104191-2
Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
Active
57794-0 Newborn screening test results panel - Dried blood spot
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Newborn screening test results panel
- Property
- -
- Time
- Pt
- System
- Bld.dot
- Scale
- -
- Method
Additional Names
- Short Name
- NBS test results pnl DBS
- Display Name
- NBS test results panel (DBS)
- Consumer Name Alpha Get Info
- NBS test results panel, Dried blood spot
Basic Attributes
- Class
- PANEL.CHEM
- Type
- Laboratory
- First Released
- Version 2.29
- Last Updated
- Version 2.67
- Order vs. Observation
- Order
- Panel Type
- Organizer
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Panel de resultados de tests de cribado del recién nacido: |
| es-MX | Spanish (Mexico) | Panel de resultados de la prueba de detección del recién nacido: |
| fr-FR | French (France) | Dépistage néonatal - Résultats des tests panel: |
| it-IT | Italian (Italy) | Screening neonatale, panel risultati test: Synonyms: Chimica Panel risultati test di screening neonatale Punto nel tempo (episodio) Sangue Set di prescrizione chimica Spot sangue secco |
| nl-NL | Dutch (Netherlands) | pasgeborene screening testresultaten panel: |
| pt-BR | Portuguese (Brazil) | Triagem neonatal teste do painel Resultados: Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Новорождённый скрининг тест результаты панель: Synonyms: Кровь Кровь сухая капля Точка во времени; |
| zh-CN | Chinese (China) | 新生儿筛查试验结果组套: Synonyms: Asympt SCN 全血斑点(滤纸); |
53261-4 Amino acid newborn screen panel
Term Description
Newborn screening dried blood spot analysis by tandem mass spectrometry (MS/MS) requires pre-processing the specimen with one of two alternative reagent methods referred to as derivatized and non-derivatized (or underivatized) methods. The methods are similar and nearly all analytes and ratios are identical with the limited number of exceptions noted in the description of the LOINC codes. Some labs choose to use the non-derivatized method because it may be faster or less expensive for their operations. There are no analytes which would be interpreted differently based on the method used to process the specimen so there is no need for different LOINC codes for the same compounds based on the reagents. In a few cases, a different LOINC code is used for the derivatized or non-derivatized tandem mass spectrometry (MS/MS) method because based on the reagents used in processing, different analytes are measured or different sets of analytes become isobaric, which means that they cannot be distinguished on the MS/MS because they have the same molecular weight after reagent processing.
Source: Regenstrief LOINC
Observation Required in Panel
Conditional
Type of Entry
Question expects user entry - requires response [Q]
Fully-Specified Name
- Component
- Amino acid newborn screen panel
- Property
- SCnc
- Time
- Pt
- System
- Bld.dot
- Scale
- -
- Method
Additional Names
- Short Name
- AA NB scn Pnl DBS-sCnc
- Display Name
- Amino acid NBS panel (DBS) [Moles/Vol]
- Consumer Name Alpha Get Info
- Amino Acid NBS Panel, Dried blood spot
Basic Attributes
- Class
- PANEL.CHEM
- Type
- Laboratory
- First Released
- Version 2.24
- Last Updated
- Version 2.77
- Order vs. Observation
- Order
- Common Test Rank Get Info
- 16129
- Panel Type
- Panel
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Panel de cribado neonatal de aminoácidos: |
| es-MX | Spanish (Mexico) | Panel de pantalla de aminoácidos para recién nacidos: |
| fr-FR | French (France) | Acides aminés dépistage néonatal panel: |
| fr-BE | French (Belgium) | Profil screening nouveau-né pour amino-acides: |
| it-IT | Italian (Italy) | Aminoacido, panel screening neonatale: Synonyms: Chimica Concentrazione di Sostanza Panel screening neonatale aminoacidi Punto nel tempo (episodio) Sangue Set di prescrizione chimica Spot sangue secco |
| nl-NL | Dutch (Netherlands) | aminozuur pasgeborene screeningpanel: |
| pt-BR | Portuguese (Brazil) | Triagem de Aminoácido neonatal painel: Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Амино кислоты новорождённый скрин панель: Synonyms: Аминокислоты новорождённый скрин панель Кровь Кровь сухая капля Молярность; |
| zh-CN | Chinese (China) | 氨基酸新生儿筛查组套: Synonyms: 克分子浓度; |
46733-2 Amino acidemias newborn screen interpretation
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Amino acidemias
- Property
- Imp
- Time
- Pt
- System
- Bld.dot
- Scale
- Nom
- Method
Additional Names
- Short Name
- Amino acidemias DBS-Imp
- Display Name
- Amino acidemias (DBS) [Interp]
- Consumer Name Alpha Get Info
- Amino acidemias, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.19
- Last Updated
- Version 2.73
- Change Reason
- Changed answer list from "Normative" to "Preferred" to fit the current LOINC model.
- Order vs. Observation
- Observation
- Common Test Rank Get Info
- 1377
Preferred Answer List LL840-0
| Answer | Code | Score | Answer ID |
|---|---|---|---|
| In range | LA18592-8 | ||
| Borderline | LA4259-3 | ||
| Indeterminate Copyright http://snomed.info/sct ID:82334004 Indeterminate (qualifier value) | LA11884-6 | ||
| Out of range | LA18593-6 | ||
| Out of range requiring further dried blood spot testing for at least one condition | LA12430-7 | ||
| Out of range requiring immediate referral | LA25817-0 | ||
| Out of range requiring immediate second-tier testing for at least one condition | LA12431-5 | ||
| Out of range requiring deferred follow-up for at least one condition | LA18594-4 | ||
| One or more tests pending | LA16204-2 | ||
| Specimen unsatisfactory for at least one condition | LA16205-9 |
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 53261-4 | Amino acid newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Aminoacidemias: |
| es-MX | Spanish (Mexico) | Amino acidemias: |
| fr-CA | French (Canada) | Aminoacidémies: |
| fr-FR | French (France) | Aminoacidémie: |
| fr-BE | French (Belgium) | Aminoacidémies: |
| it-IT | Italian (Italy) | Aminoacidemie: Synonyms: Chimica Impressione/interpretazione di studio Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | aminozuuracidemie: |
| pt-BR | Portuguese (Brazil) | Aminoacidemias: Synonyms: AA; |
| ru-RU | Russian (Russian Federation) | Аминоацидемия: Synonyms: Впечатление/интерпретация исследования Кровь Кровь сухая капля Номинальный; |
| tr-TR | Turkish (Turkey) | Amino asidemiler: |
| zh-CN | Chinese (China) | 氨基酸血症: Synonyms: AA; |
Third Party Copyright
This material includes SNOMED Clinical Terms® (SNOMED CT®) which is used by permission of the International Health Terminology Standards Development Organisation (IHTSDO) under license. All rights reserved. SNOMED CT® was originally created by The College of American Pathologists. "SNOMED" and "SNOMED CT" are registered trademarks of the IHTSDO.
This material includes content from the US Edition to SNOMED CT, which is developed and maintained by the U.S. National Library of Medicine and is available to authorized UMLS Metathesaurus Licensees from the UTS Downloads site at https://uts.nlm.nih.gov.
Use of SNOMED CT content is subject to the terms and conditions set forth in the SNOMED CT Affiliate License Agreement. It is the responsibility of those implementing this product to ensure they are appropriately licensed and for more information on the license, including how to register as an Affiliate Licensee, please refer to http://www.snomed.org/snomed-ct/get-snomed-ct or info@snomed.org<mailto:info@snomed.org>. This may incur a fee in SNOMED International non-Member countries.
57710-6 Amino acidemias newborn screening comment-discussion
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Amino acidemias newborn screening comment-discussion
- Property
- Txt
- Time
- Pt
- System
- Bld.dot
- Scale
- Nar
- Method
Additional Names
- Short Name
- Amino acidemias NBS comment
- Display Name
- Amino acidemias newborn screening comment-discussion Nar (DBS)
- Consumer Name Alpha Get Info
- Amino acidemias newborn screening comment-discussion, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.29
- Last Updated
- Version 2.73
- Order vs. Observation
- Observation
- Common Test Rank Get Info
- 16991
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 53261-4 | Amino acid newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Aminoacidemias screnning de recién nacidos comentario-discusión: |
| es-MX | Spanish (Mexico) | Amino acidemias revisión de recién nacidos comentario-discusión: |
| fr-FR | French (France) | Aminoacidémie dépistage néonatal (commentaire/discussion): |
| fr-BE | French (Belgium) | Aminoacidémies Commentaires.screening néonatal.discussion: |
| it-IT | Italian (Italy) | Aminoacidemie, screening neonatale, commenti-discussione: Synonyms: Chimica Commento/discussione di screening neonatale per aminoacidemie Punto nel tempo (episodio) Sangue Spot sangue secco Testo |
| nl-NL | Dutch (Netherlands) | aminozuuracidemie screening van pasgeborene commentaar-discussie: |
| pt-BR | Portuguese (Brazil) | Aminoacidemias na triagem neonatal comentários-discussão: Synonyms: Remarks; |
| ru-RU | Russian (Russian Federation) | Аминоацидемия новорожденный скрининг комментарий-дискуссия: Synonyms: Кровь Кровь сухая капля Описательный Текст Точка во времени; |
| tr-TR | Turkish (Turkey) | Amino asidemiler yenidoğan tarama öneri-tartışma: |
| zh-CN | Chinese (China) | 氨基酸血症 新生儿筛查注释-讨论: Synonyms: AA; |
57793-2 Amino acidemia disorder suspected [Identifier] in DBS
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Amino acidemia disorder suspected
- Property
- Prid
- Time
- Pt
- System
- Bld.dot
- Scale
- Nom
- Method
Additional Names
- Short Name
- Amino acidemia disorder suspected DBS
- Display Name
- Amino acidemia disorder suspected Nom (DBS)
- Consumer Name Alpha Get Info
- Amino acidemia disorder suspected, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.29
- Last Updated
- Version 2.73
- Change Reason
- Changed answer list from "Normative" to "Preferred" to fit the current LOINC model.
- Order vs. Observation
- Observation
- Common Test Rank Get Info
- 2318
Preferred Answer List LL837-6
| Answer | Code | Score | Answer ID |
|---|---|---|---|
| None Copyright http://snomed.info/sct ID:260413007 None (qualifier value) | LA137-2 | ||
| CIT-I or CIT-II or ASA | LA12569-2 | ||
| HCY or MET or CBL C | LA12570-0 | ||
| PKU or BIPT-BS or BIOPT-REG or H-PHE | LA12571-8 | ||
| TYR-1 or TYR-II or TYR-III | LA12572-6 | ||
| Maple syrup urine disease Copyright http://snomed.info/sct ID:27718001 Maple syrup urine disease (disorder) | LA21168-2 | ||
| Argininemia | LA21161-7 | ||
| Argininosuccinic aciduria | LA21162-5 | ||
| Carbamoyl-phosphate synthase deficiency Copyright http://snomed.info/sct ID:62522004 Congenital hyperammonemia, type I (disorder) | LA12484-4 | ||
| Citrullinemia, type I Copyright http://snomed.info/sct ID:398680004 Citrullinemia (disorder) | LA12482-8 | ||
| Citrullinemia, type II Copyright http://snomed.info/sct ID:716863007 Citrullinemia type II (disorder) | LA12483-6 | ||
| Dihydrolipoamide dehydrogenase deficiency Copyright http://snomed.info/sct ID:29914000 Dihydrolipoamide dehydrogenase deficiency (disorder) | LA12490-1 | ||
| Biopterin defect in cofactor biosynthesis Copyright http://snomed.info/sct ID:237914002 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency (disorder) | LA12472-9 | ||
| Biopterin defect in cofactor regeneration Copyright http://snomed.info/sct ID:58256000 Dihydropteridine reductase deficiency (disorder) | LA12473-7 | ||
| Girate atrophy of the retina Copyright http://snomed.info/sct ID:314467007 Gyrate atrophy (disorder) | LA12502-3 | ||
| Hypermethioninemia Copyright http://snomed.info/sct ID:43123004 Hypermethioninemia (disorder) | LA12512-2 | ||
| Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome Copyright http://snomed.info/sct ID:30287008 Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome (disorder) | LA12497-6 | ||
| Hyperphenylalaninemia (variant, benign) Copyright http://snomed.info/sct ID:68528007 Hyperphenylalaninemia (disorder) | LA12500-7 | ||
| Hyperprolinemia type I Copyright http://snomed.info/sct ID:61071003 Proline dehydrogenase deficiency (disorder) | LA12521-3 | ||
| Hyperprolinemia type II Copyright http://snomed.info/sct ID:717181004 Hyperprolinemia type 2 (disorder) | LA12522-1 | ||
| Cobalamin E disease Copyright http://snomed.info/sct ID:360373000 Homocystinuria vitamin B12-responsive type III (disorder) | LA12480-2 | ||
| Guanidinoacetate N-methyltransferase deficiency Copyright http://snomed.info/sct ID:124239003 Deficiency of guanidinoacetate methyltransferase (disorder) | LA30113-7 | ||
| L-arginine:glycine amidinotransferase deficiency Copyright http://snomed.info/sct ID:702440000 Cerebral creatine deficiency syndrome 3 (disorder) | LA30114-5 | ||
| Methylene tetrahydrofolate reductase deficiency Copyright http://snomed.info/sct ID:41797007 5,10-Methylenetetrahydrofolate reductase deficiency (disorder) | LA12514-8 | ||
| Nonketotic hyperglycinemia (glycine encephalopathy) Copyright http://snomed.info/sct ID:237939006 Non-ketotic hyperglycinemia (disorder) | LA12516-3 | ||
| Ornithine transcarbamylase deficiency Copyright http://snomed.info/sct ID:80908008 Ornithine carbamoyltransferase deficiency (disorder) | LA12518-9 | ||
| Classic phenylketonuria Copyright http://snomed.info/sct ID:7573000 Classical phenylketonuria (disorder) | LA12520-5 | ||
| Pyroglutamic acidemia Copyright http://snomed.info/sct ID:39112005 Glutathione synthase deficiency with 5-oxoprolinuria (disorder) | LA12469-5 | ||
| Pyruvate carboxylase deficiency Copyright http://snomed.info/sct ID:87694001 Pyruvate carboxylase deficiency (disorder) | LA12519-7 | ||
| Tyrosinemia, type I Copyright http://snomed.info/sct ID:410056006 Tyrosinemia type I (disorder) | LA12528-8 | ||
| Tyrosinemia, type II Copyright http://snomed.info/sct ID:4887000 Hypertyrosinemia, Richner-Hanhart type (disorder) | LA12529-6 | ||
| Tyrosinemia, type III Copyright http://snomed.info/sct ID:415764005 Tyrosinemia type III (disorder) | LA12530-4 | ||
| Valinemia Copyright http://snomed.info/sct ID:47719001 Hypervalinemia (disorder) | LA12503-1 | ||
| X-linked creatine transporter (CRTR) deficiency Copyright http://snomed.info/sct ID:698290008 X-linked creatine deficiency (disorder) | LA30492-5 |
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 53261-4 | Amino acid newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Sospecha de desorden de aminoacidemia: |
| es-MX | Spanish (Mexico) | Sospecha de trastorno por aminoacidemia: |
| fr-FR | French (France) | Aminoacidémie désordre suspecté: |
| fr-BE | French (Belgium) | Maladie des Amino-acides suspectée: |
| it-IT | Italian (Italy) | Aminoacidemia, sospetto disturbo: Synonyms: Chimica Presenza o Identità Punto nel tempo (episodio) Sangue Sospetto disturbo di aminoacidemia Spot sangue secco |
| nl-NL | Dutch (Netherlands) | aminozuuracidemiestoornis verdenking: |
| pt-BR | Portuguese (Brazil) | Suspeita de desordem de amino acidemia: Synonyms: Identity or presence; |
| ru-RU | Russian (Russian Federation) | Амино ацидемия расстройство заподозрено: Synonyms: Заподозрено аминоацидурическое расстройство Кровь Кровь сухая капля Номинальный; |
| tr-TR | Turkish (Turkey) | Amino asidemi bozukluğu şüphelenilen: |
| zh-CN | Chinese (China) | 疑似氨基酸血症: Synonyms: 全血斑点(滤纸); |
Third Party Copyright
This material includes SNOMED Clinical Terms® (SNOMED CT®) which is used by permission of the International Health Terminology Standards Development Organisation (IHTSDO) under license. All rights reserved. SNOMED CT® was originally created by The College of American Pathologists. "SNOMED" and "SNOMED CT" are registered trademarks of the IHTSDO.
This material includes content from the US Edition to SNOMED CT, which is developed and maintained by the U.S. National Library of Medicine and is available to authorized UMLS Metathesaurus Licensees from the UTS Downloads site at https://uts.nlm.nih.gov.
Use of SNOMED CT content is subject to the terms and conditions set forth in the SNOMED CT Affiliate License Agreement. It is the responsibility of those implementing this product to ensure they are appropriately licensed and for more information on the license, including how to register as an Affiliate Licensee, please refer to http://www.snomed.org/snomed-ct/get-snomed-ct or info@snomed.org<mailto:info@snomed.org>. This may incur a fee in SNOMED International non-Member countries.
46746-4 Phenylketonuria and variants/Biopterin defects newborn screen interpretation
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Phenylketonuria and variants &or biopterin defects
- Property
- Imp
- Time
- Pt
- System
- Bld.dot
- Scale
- Nom
- Method
Additional Names
- Short Name
- PKU+Var/BIOPT Defects DBS-Imp
- Display Name
- Phenylketonuria and variants/Biopterin defects (DBS) [Interp]
- Consumer Name Alpha Get Info
- Phenylketonuria and Variants/Biopterin defects, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.19
- Last Updated
- Version 2.73
- Change Reason
- Changed answer list from "Normative" to "Preferred" to fit the current LOINC model.
- Order vs. Observation
- Both
- Common Test Rank Get Info
- 19766
Preferred Answer List LL840-0
| Answer | Code | Score | Answer ID |
|---|---|---|---|
| In range | LA18592-8 | ||
| Borderline | LA4259-3 | ||
| Indeterminate Copyright http://snomed.info/sct ID:82334004 Indeterminate (qualifier value) | LA11884-6 | ||
| Out of range | LA18593-6 | ||
| Out of range requiring further dried blood spot testing for at least one condition | LA12430-7 | ||
| Out of range requiring immediate referral | LA25817-0 | ||
| Out of range requiring immediate second-tier testing for at least one condition | LA12431-5 | ||
| Out of range requiring deferred follow-up for at least one condition | LA18594-4 | ||
| One or more tests pending | LA16204-2 | ||
| Specimen unsatisfactory for at least one condition | LA16205-9 |
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 53261-4 | Amino acid newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Fenilcetonuria y variantes/defectos de biopterina: |
| es-MX | Spanish (Mexico) | Fenilcetonuria y variantes o defectos de biopterina: |
| fr-CA | French (Canada) | Défauts phénylcétonurie & variantes &ou Bioptérine Defects: |
| fr-FR | French (France) | Phénylcétonurie et variantes et/ou bioptérine carence: |
| fr-BE | French (Belgium) | Défauts phénylcétonurie & variantes/Bioptérine Defects: |
| it-IT | Italian (Italy) | Fenilchetonuria e varianti &o difetti biopterina: Synonyms: Chimica Fenilchetonuria e varianti/Difetti biopterina Impressione/interpretazione di studio Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | fenylketonurie en varianten en/of biopterinedefecten: |
| pt-BR | Portuguese (Brazil) | Fenilcetonúria e variantes e/ou biopterina defeitos: Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Фенилкетонурия и варианты &или биоптерин дефекты: Synonyms: Впечатление/интерпретация исследования Кровь Кровь сухая капля Номинальный; |
| tr-TR | Turkish (Turkey) | Fenilketonüri ve varyantları veveya biyopterin kusurları: |
| zh-CN | Chinese (China) | 苯丙酮尿症和变种和或生物蝶呤缺陷: Synonyms: BIOPT; |
Third Party Copyright
This material includes SNOMED Clinical Terms® (SNOMED CT®) which is used by permission of the International Health Terminology Standards Development Organisation (IHTSDO) under license. All rights reserved. SNOMED CT® was originally created by The College of American Pathologists. "SNOMED" and "SNOMED CT" are registered trademarks of the IHTSDO.
This material includes content from the US Edition to SNOMED CT, which is developed and maintained by the U.S. National Library of Medicine and is available to authorized UMLS Metathesaurus Licensees from the UTS Downloads site at https://uts.nlm.nih.gov.
Use of SNOMED CT content is subject to the terms and conditions set forth in the SNOMED CT Affiliate License Agreement. It is the responsibility of those implementing this product to ensure they are appropriately licensed and for more information on the license, including how to register as an Affiliate Licensee, please refer to http://www.snomed.org/snomed-ct/get-snomed-ct or info@snomed.org<mailto:info@snomed.org>. This may incur a fee in SNOMED International non-Member countries.
58231-2 Phenylketonuria and variants/Biopterin defects newborn screening comment-discussion
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Phenylketonuria and variants &or biopterin defects newborn screening comment-discussion
- Property
- Txt
- Time
- Pt
- System
- Bld.dot
- Scale
- Nar
- Method
Additional Names
- Short Name
- PKU+Var/BIOPT Defects NBS comment
- Display Name
- Phenylketonuria and variants/Biopterin defects newborn screening comment-discussion Nar (DBS)
- Consumer Name Alpha Get Info
- Phenylketonuria and Variants/Biopterin defects newborn screening comment-discussion, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.30
- Last Updated
- Version 2.73
- Order vs. Observation
- Observation
- Common Test Rank Get Info
- 19189
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 53261-4 | Amino acid newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Fenilcetonuria y variantes/defectos de biopterina screnning de recién nacidos comentario-discusión: Synonyms: Comentario/discusión del cribado de la fenilcetonuria y variantes/defectos de biopterina en el recien nacido |
| es-MX | Spanish (Mexico) | Fenilcetonuria y variantes o defectos de la biopterina cribado neonatal comentario-discusión: |
| fr-FR | French (France) | Phénylcétonurie et variantes et/ou bioptérine carence dépistage néonatal (commentaire-discussion): |
| fr-BE | French (Belgium) | Défauts phénylcétonurie & variantes/Bioptérine Defects Commentaires.screening néonatal.discussion: |
| it-IT | Italian (Italy) | Fenilchetonuria e varianti &o difetti biopterina, screening neonatale, commenti-discussione: Synonyms: Chimica Commento/discussione di screening neonatale per fenilchetonuria e varianti/difetti biopterina Fenilchetonuria e varianti/Difetti biopterina Punto nel tempo (episodio) Sangue Spot sangue secco Testo |
| nl-NL | Dutch (Netherlands) | fenylketonurie en varianten en/of biopterinedefecten screening van pasgeborene commentaar-discussie: |
| pl-PL | Polish (Poland) | Fenyloketonuria i jej warianty np, defekty syntezy biopteryny komentarz-dyskusja nad badaniami przesiewowymi noworodka: |
| pt-BR | Portuguese (Brazil) | Fenilcetonúria e variantes e/ou defeitos da biopterina triagem neonatal comentários-discussão: Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Фенилкетонурия и варианты &или биоптерин дефекты новорожденный скрининг комментарий-дискуссия: Synonyms: Кровь Кровь сухая капля Описательный Текст Точка во времени; |
| tr-TR | Turkish (Turkey) | Fenilketonüri ve varyantları veveya biyopterin kusurları yenidoğan tarama öneri-tartışma: |
| zh-CN | Chinese (China) | 苯丙酮尿症和变种和或生物蝶呤缺陷 新生儿筛查注释-讨论: Synonyms: Asympt BIOPT; |
46743-1 Maple syrup urine disease newborn screen interpretation
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Maple syrup urine disease
- Property
- Imp
- Time
- Pt
- System
- Bld.dot
- Scale
- Nom
- Method
Additional Names
- Short Name
- MSUD DBS-Imp
- Display Name
- Maple syrup urine disease (DBS) [Interp]
- Consumer Name Alpha Get Info
- Maple syrup urine disease, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.19
- Last Updated
- Version 2.73
- Change Reason
- Changed answer list from "Normative" to "Preferred" to fit the current LOINC model.
- Order vs. Observation
- Observation
- Common Test Rank Get Info
- 14378
Preferred Answer List LL840-0
| Answer | Code | Score | Answer ID |
|---|---|---|---|
| In range | LA18592-8 | ||
| Borderline | LA4259-3 | ||
| Indeterminate Copyright http://snomed.info/sct ID:82334004 Indeterminate (qualifier value) | LA11884-6 | ||
| Out of range | LA18593-6 | ||
| Out of range requiring further dried blood spot testing for at least one condition | LA12430-7 | ||
| Out of range requiring immediate referral | LA25817-0 | ||
| Out of range requiring immediate second-tier testing for at least one condition | LA12431-5 | ||
| Out of range requiring deferred follow-up for at least one condition | LA18594-4 | ||
| One or more tests pending | LA16204-2 | ||
| Specimen unsatisfactory for at least one condition | LA16205-9 |
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 53261-4 | Amino acid newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Enfermedad orina jarabe de arce: |
| es-MX | Spanish (Mexico) | Enfermedad de la orina con jarabe de arce: |
| fr-CA | French (Canada) | Leucinose: |
| fr-FR | French (France) | Leucinose: |
| fr-BE | French (Belgium) | Leucinose: |
| it-IT | Italian (Italy) | Sciroppo d'acero, malattia urine: Synonyms: Chimica Impressione/interpretazione di studio Malattia delle urine a sciroppo d''acero Punto nel tempo (episodio) Sangue Sciroppo d''acero Spot sangue secco |
| nl-NL | Dutch (Netherlands) | Maple syrup urine disease: Synonyms: ahornsiroop |
| pt-BR | Portuguese (Brazil) | Maple xarope doença urinária: Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Кленовый сироп моча болезнь: Synonyms: Болезнь кленового сиропа; |
| tr-TR | Turkish (Turkey) | Akçaağaç şurupu idrar hastalığı: |
| zh-CN | Chinese (China) | 槭糖浆尿病: Synonyms: MSUD; |
Third Party Copyright
This material includes SNOMED Clinical Terms® (SNOMED CT®) which is used by permission of the International Health Terminology Standards Development Organisation (IHTSDO) under license. All rights reserved. SNOMED CT® was originally created by The College of American Pathologists. "SNOMED" and "SNOMED CT" are registered trademarks of the IHTSDO.
This material includes content from the US Edition to SNOMED CT, which is developed and maintained by the U.S. National Library of Medicine and is available to authorized UMLS Metathesaurus Licensees from the UTS Downloads site at https://uts.nlm.nih.gov.
Use of SNOMED CT content is subject to the terms and conditions set forth in the SNOMED CT Affiliate License Agreement. It is the responsibility of those implementing this product to ensure they are appropriately licensed and for more information on the license, including how to register as an Affiliate Licensee, please refer to http://www.snomed.org/snomed-ct/get-snomed-ct or info@snomed.org<mailto:info@snomed.org>. This may incur a fee in SNOMED International non-Member countries.
58230-4 Maple syrup urine disease newborn screening comment-discussion
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Maple syrup urine disease newborn screening comment-discussion
- Property
- Txt
- Time
- Pt
- System
- Bld.dot
- Scale
- Nar
- Method
Additional Names
- Short Name
- MSUD NBS comment
- Display Name
- Maple syrup urine disease newborn screening comment-discussion Nar (DBS)
- Consumer Name Alpha Get Info
- Maple syrup urine disease newborn screening comment-discussion, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.30
- Last Updated
- Version 2.42
- Order vs. Observation
- Observation
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 53261-4 | Amino acid newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Enfermedad orina jarabe de arce screnning de recién nacidos comentario-discusión: Synonyms: Comentario/discusión del cribado de la enfermedad del jarabe de arce en el recien nacido |
| es-MX | Spanish (Mexico) | Jarabe de arce, enfermedad de la orina, evaluación del recién nacido, comentario-discusión: |
| fr-FR | French (France) | Leucinose dépistage néonatal (commentaire-discussion): |
| fr-BE | French (Belgium) | Leucinose Commentaires.screening néonatal.discussion: |
| it-IT | Italian (Italy) | Sciroppo d'acero, malattia urine, screening neonatale, commenti-discussione: Synonyms: Chimica Commento/discussione di screening neonatale per malattia delle urine a sciroppo d''acero Malattia delle urine a sciroppo d''acero Punto nel tempo (episodio) Sangue Sciroppo d''acero Spot sangue secco Testo |
| nl-NL | Dutch (Netherlands) | Maple syrup urine disease screening van pasgeborene commentaar-discussie: Synonyms: ahornsiroop |
| pt-BR | Portuguese (Brazil) | Doença do xarope de bordo na urina triagem neonatal comentários-discussão: Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Кленовый сироп моча болезнь новорожденный скрининг комментарий-дискуссия: Synonyms: Болезнь кленового сиропа; |
| tr-TR | Turkish (Turkey) | Akçaağaç şurupu idrar hastalığı yenidoğan tarama öneri-tartışma: |
| zh-CN | Chinese (China) | 槭糖浆尿病 新生儿筛查注释-讨论: Synonyms: Asympt MSUD; |
47539-2 3-Methylhistidine [Moles/volume] in DBS
Term Description
The tentative opinion of the HTSP review (5/13/08) committee was that this marker has no clinical utility based on today's knowledge.
Source: Regenstrief LOINC
Part Descriptions
LP15303-8 3-Methylhistidine
3-Methylhistidine is an amino acid occurring in myofibrillar proteins and important in the synthesis of carnosine. Increased levels of 3-Methylhistidine indicative of active catabolism of muscle protein. Information from Dorland's Medical Dictionary, www.mercksource.com, accessed 2006 11 30.
Source: Regenstrief Institute
LP15303-8 3-Methylhistidine
3-Methylhistidine is a product of peptide bond synthesis and methylation of actin and myosin. The measurement of 3-Methylhistidine provides an index of the rate of muscle protein breakdown.
Copyright Copyright ©2005-2009 Genome Alberta (Reference to original publication: Wishart DS, Knox C, Guo AC, et al. HMDB: a knowledgebase for the human metabolome. Nucleic Acids Res. 2009 37(Database issue):D603-610.)
Source: Human Metabolome Database, Human Metabolome Database
Observation Required in Panel
Conditional
Type of Entry
Question expects user entry - requires response [Q]
Fully-Specified Name
- Component
- 3-Methylhistidine
- Property
- SCnc
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- 3Me-histidine DBS-sCnc
- Display Name
- 3-Methylhistidine (DBS) [Moles/Vol]
- Consumer Name Alpha Get Info
- 3-Methylhistidine, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.21
- Last Updated
- Version 2.70
- Order vs. Observation
- Both
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 53261-4 | Amino acid newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| de-DE | German (Germany) | 3-Methylhistidin: |
| es-ES | Spanish (Spain) | 3-Metilhistidina: Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | 3-metilhistidina: |
| et-EE | Estonian (Estonia) | 3-metüülhistidiin: Synonyms: Aine kontsentratsioon Juhuslik Kvantitatiivne Veri |
| fr-CA | French (Canada) | 3-méthylhistidine: |
| fr-FR | French (France) | 3-méthylhistidine: |
| fr-BE | French (Belgium) | 3-méthylhistidine: |
| it-IT | Italian (Italy) | 3-Metilistidina: Synonyms: Chimica Concentrazione di Sostanza Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | 3-methylhistidine: |
| pt-BR | Portuguese (Brazil) | 3-Metilhistidina: Synonyms: ; |
| ru-RU | Russian (Russian Federation) | 3-Метилгистидин: Synonyms: Количественный Кровь Кровь сухая капля Молярность; |
| tr-TR | Turkish (Turkey) | 3-Metilhistidin: |
| zh-CN | Chinese (China) | 3-甲基组氨酸: Synonyms: 3Me-His; |
Example Units
| Unit | Source |
|---|---|
| umol/L | Example UCUM Units |
53232-5 5-Oxoproline+Pipecolate [Moles/volume] in DBS
Part Descriptions
LP70201-6 5-Oxoproline+Pipecolate
5-Oxoproline+Pipecolate is a primary marker for Pyroglutamic acidemia.
Source: Regenstrief LOINC
Observation Required in Panel
Conditional
Type of Entry
Question expects user entry - requires response [Q]
Fully-Specified Name
- Component
- 5-Oxoproline+Pipecolate
- Property
- SCnc
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- 5-Oxoproline+Pipecolate DBS-sCnc
- Display Name
- 5-Oxoproline+Pipecolate (DBS) [Moles/Vol]
- Consumer Name Alpha Get Info
- 5-Oxoproline+Pipecolate, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.24
- Last Updated
- Version 2.73
- Order vs. Observation
- Both
- Common Test Rank Get Info
- 16828
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 53261-4 | Amino acid newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | 5-Oxoprolina+Pipecolato: Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | 5-Oxoprolina + Pipecolate: |
| et-EE | Estonian (Estonia) | 5-oksoproliin + pipekolaat: Synonyms: Aine kontsentratsioon Juhuslik Kvantitatiivne Veri |
| fr-CA | French (Canada) | 5-oxoproline+Pipécolate: |
| fr-FR | French (France) | Pyroglutamate+pipécolate: |
| fr-BE | French (Belgium) | 5-oxoproline+Pipécolate: |
| it-IT | Italian (Italy) | 5-Oxoprolina+Pipecolato: Synonyms: Chimica Concentrazione di Sostanza Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | 5-oxoproline + pipecolaat: |
| pt-BR | Portuguese (Brazil) | 5-Oxoprolina+Pipecolate: Synonyms: Pipa; |
| ru-RU | Russian (Russian Federation) | 5-Оксопролин+Пипеколат: Synonyms: Количественный Кровь Кровь сухая капля Молярность; |
| tr-TR | Turkish (Turkey) | 5-Okzoprolin+Pipekolat: |
| zh-CN | Chinese (China) | 5-羟脯氨酸+哌啶酸: Synonyms: 5-羟脯氨酸+哌可酸 克分子浓度; |
Example Units
| Unit | Source |
|---|---|
| umol/L | Example UCUM Units |
53394-3 5-Oxoproline+Pipecolate/Phenylalanine [Molar ratio] in DBS
Part Descriptions
LP70160-4 Phenylalanine
Phenylalanine is an essential alpha-amino acid. It exists in two forms, a D and an L form, which are enantiomers (mirror-image molecules) of each other. It has a benzyl side chain and its name comes from its chemical structures that consists of a phenyl group substituted for one of the hydrogens in the side chain of alanine. Because of its phenyl group, phenylalanine is an aromatic compound that at room temperature exists as a white, powdery solid. L -phenylalanine (LPA) is an electrically-neutral amino acid and its enantiomer, D -phenylalanine (DPA), can be synthesized artificially. L -phenylalanine can also be converted into L -tyrosine, another one of the twenty protein-forming amino acids.
Copyright Text is available under the Creative Commons Attribution/Share-Alike License. See http://creativecommons.org/licenses/by-sa/3.0/ for details.
Source: Wikipedia, Phenylalanine (Wikipedia)
LP70201-6 5-Oxoproline+Pipecolate
5-Oxoproline+Pipecolate is a primary marker for Pyroglutamic acidemia.
Source: Regenstrief LOINC
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- 5-Oxoproline+Pipecolate/Phenylalanine
- Property
- SRto
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- 5-Oxoproline+Pipecolate/Phe DBS-sRto
- Display Name
- 5-Oxoproline+Pipecolate/Phenylalanine (DBS) [Molar ratio]
- Consumer Name Alpha Get Info
- 5-Oxoproline+Pipecolate/Phenylalanine, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.24
- Last Updated
- Version 2.70
- Order vs. Observation
- Observation
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 53261-4 | Amino acid newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | 5-Oxoprolina+Pipecolato/Fenilalanina: Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | 5-oxoprolina + pipecolate / fenilalanina: |
| fr-CA | French (Canada) | 5-oxoproline+Pipécolate/Phénylalanine: |
| fr-FR | French (France) | Pyroglutamate+pipécolate/phénylalanine: |
| fr-BE | French (Belgium) | 5-oxoproline+Pipécolate/Phénylalanine: |
| it-IT | Italian (Italy) | 5-Oxoprolina+Pipecolato/Fenilalanina: Synonyms: Chimica Punto nel tempo (episodio) Rapporto di sostanza Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | 5-oxoproline + pipecolaat/fenylalanine: Synonyms: phenylalanine |
| pt-BR | Portuguese (Brazil) | 5-oxoprolina+Pipecolate/Fenilalanina: Synonyms: Pipa; |
| ru-RU | Russian (Russian Federation) | 5-Оксопролин+Пипеколат/Фенилаланин: Synonyms: Количественный Кровь Кровь сухая капля Мольная доля; |
| tr-TR | Turkish (Turkey) | 5-Okzoprolin+Pipekolat/Fenilalanin: Synonyms: SubsOranı |
| zh-CN | Chinese (China) | 5-羟脯氨酸+哌啶酸/苯丙氨酸: Synonyms: 5-羟脯氨酸+哌可酸 Phe Phe; |
Example Units
| Unit | Source |
|---|---|
| {Ratio} | Example UCUM Units |
53150-9 Alanine+Beta Alanine+Sarcosine [Moles/volume] in DBS
Part Descriptions
LP70080-4 Alanine+Beta Alanine+Sarcosine
Alanine+Beta Alanine+Sarcosine is a secondary marker for Pyruvate carboxylase deficiency and Primary lactic acidemia (various types).
Source: Regenstrief LOINC
Observation Required in Panel
Conditional
Type of Entry
Question expects user entry - requires response [Q]
Fully-Specified Name
- Component
- Alanine+Beta Alanine+Sarcosine
- Property
- SCnc
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- Ala+B-Ala+Sar DBS-sCnc
- Display Name
- Alanine+Beta Alanine+Sarcosine (DBS) [Moles/Vol]
- Consumer Name Alpha Get Info
- Alanine+Beta alanine+Sarcosine, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.24
- Last Updated
- Version 2.73
- Order vs. Observation
- Both
- Common Test Rank Get Info
- 18874
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 53261-4 | Amino acid newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Alanina+ Beta alanina+ Sarcosina: Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Alanina + Beta Alanina + Sarcosina: |
| et-EE | Estonian (Estonia) | Alaniin + Beetaalaniin + sarkosiin: Synonyms: Aine kontsentratsioon Juhuslik Kvantitatiivne Veri |
| fr-CA | French (Canada) | Alanine+ Bêta-alanine+ Sarcosine: Synonyms: #REF! |
| fr-FR | French (France) | Alanine+bêta alanine+sarcosine: |
| fr-BE | French (Belgium) | Alanine+Beta Alanine+Sarcosine: |
| it-IT | Italian (Italy) | Alanina+Beta Alanina+Sarcosina: Synonyms: Chimica Concentrazione di Sostanza Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | alanine + bèta-alanine + sarcosine: |
| pt-BR | Portuguese (Brazil) | Alanina+Beta Alanina+Sarcosina: Synonyms: Sar; |
| ru-RU | Russian (Russian Federation) | Аланин+Бета Аланин+Саркозин: Synonyms: Бета-аланин Количественный Кровь Кровь сухая капля Молярность; |
| tr-TR | Turkish (Turkey) | Alanin+Beta Alanin+Sarkozin: |
| zh-CN | Chinese (China) | 丙氨酸+Beta 丙氨酸+肌氨酸: Synonyms: Ala; |
Example Units
| Unit | Source |
|---|---|
| umol/L | Example UCUM Units |
53393-5 Alloisoleucine+Isoleucine+Leucine+Hydroxyproline+Valine/Phenylalanine+Tyrosine [Molar ratio] in DBS
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Alloisoleucine+Isoleucine+Leucine+Hydroxyproline+Valine/Phenylalanine+Tyrosine
- Property
- SRto
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- Aile+Ile+Leu+Hyp+Val/Phe+Tyr DBS-sRto
- Display Name
- Alloisoleucine+Isoleucine+Leucine+Hydroxyproline+Valine/Phenylalanine+Tyrosine (DBS) [Molar ratio]
- Consumer Name Alpha Get Info
- Alloisoleucine+Isoleucine+Leucine+Hydroxyproline+Valine/Phenylalanine+Tyrosine, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.24
- Last Updated
- Version 2.73
- Order vs. Observation
- Observation
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 53261-4 | Amino acid newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Aloisoleucina + Isoleucina + Leucina + Hidroxiprolina + Valina/Fenilalanina+Tirosina: Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Aloisoleucina + Isoleucina + Leucina + Hidroxiprolina + Valina / Fenilalanina + Tirosina: |
| fr-CA | French (Canada) | Alloisoleucine+Isoleucine+Leucine+Hydroxyproline+Valine/Phénylalanine+tyrosine: |
| fr-FR | French (France) | Alloisoleucine+isoleucine+leucine+hydroxyproline+valine/phénylalanine+tyrosine: |
| fr-BE | French (Belgium) | Alloisoleucine+Isoleucine+Leucine+Hydroxyproline+Valine/Phénylalanine+tyrosine: Synonyms: OH-Proline |
| it-IT | Italian (Italy) | Alloisoleucina+Isoleucina+Leucina+Idrossiprolina+Valina/Fenilalanina+Tirosina: Synonyms: Chimica Punto nel tempo (episodio) Rapporto di sostanza Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | alloisoleucine + isoleucine + leucine + hydroxyproline + valine/fenylalanine + tyrosine: |
| pt-BR | Portuguese (Brazil) | Aloisoleucina+Isoleucina+Leucina+Hidroxiprolina+Valina/Fenilalanina+Tirosina: Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Аллоизолейцин+Изолейцин+Лейцин+Гидроксипролин+Валин/Фенилаланин+Тирозин: Synonyms: Количественный Кровь Кровь сухая капля Мольная доля; |
| tr-TR | Turkish (Turkey) | Alloizolösin+İzolösin+Lösin+Hidroksiprolin+Valin/Fenilalanin+Tirozin: Synonyms: SubsOranı |
| zh-CN | Chinese (China) | 别异亮氨酸+异亮氨酸+亮氨酸+羟脯氨酸+缬氨酸/苯丙氨酸+酪氨酸: Synonyms: 3-对羟苯基丙氨酸; |
Example Units
| Unit | Source |
|---|---|
| {Ratio} | Example UCUM Units |
53152-5 Alloisoleucine+Isoleucine+Leucine+Hydroxyproline [Moles/volume] in DBS
Part Descriptions
LP70081-2 Alloisoleucine+Isoleucine+Leucine+Hydroxyproline
Alloisoleucine+Isoleucine+Leucine+Hydroxyproline is a primary marker for Maple syrup urine disease and Hydroxyprolinemia
Source: Regenstrief LOINC
Observation Required in Panel
Conditional
Type of Entry
Question expects user entry - requires response [Q]
Fully-Specified Name
- Component
- Alloisoleucine+Isoleucine+Leucine+Hydroxyproline
- Property
- SCnc
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- Aile+Ile+Leu+Hyp DBS-sCnc
- Display Name
- Alloisoleucine+Isoleucine+Leucine+Hydroxyproline (DBS) [Moles/Vol]
- Consumer Name Alpha Get Info
- Alloisoleucine+Isoleucine+Leucine+Hydroxyproline, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.24
- Last Updated
- Version 2.73
- Order vs. Observation
- Both
- Common Test Rank Get Info
- 19300
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 53261-4 | Amino acid newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Aloisoleucina + Isoleucina + Leucina + Hidroxiprolina: Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Aloisoleucina + Isoleucina + Leucina + Hidroxiprolina: |
| et-EE | Estonian (Estonia) | Alloisoleutsiin + isoleutsiin + leutsiin + hüdroksüproliin: Synonyms: Aine kontsentratsioon Juhuslik Kvantitatiivne Veri |
| fr-CA | French (Canada) | Alloisoleucine+Isoleucine+Leucine+Hydroxyproline: |
| fr-FR | French (France) | Alloisoleucine+isoleucine+leucine+hydroxyproline: |
| fr-BE | French (Belgium) | Alloisoleucine+Isoleucine+Leucine+Hydroxyproline: Synonyms: OH-Proline |
| it-IT | Italian (Italy) | Alloisoleucina+Isoleucina+Leucina+Idrossiprolina: Synonyms: Chimica Concentrazione di Sostanza Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | alloisoleucine + isoleucine + leucine + hydroxyproline: |
| pt-BR | Portuguese (Brazil) | Aloisoleucina+Isoleucina+Leucina+Hidroxiprolina: Synonyms: Leu; |
| ru-RU | Russian (Russian Federation) | Аллоизолейцин+Изолейцин+Лейцин+Гидроксипролин: Synonyms: Количественный Кровь Кровь сухая капля Молярность; |
| tr-TR | Turkish (Turkey) | Alloizolösin+İzolösin+Lösin+Hidroksiprolin: |
| zh-CN | Chinese (China) | 别异亮氨酸+异亮氨酸+亮氨酸+羟脯氨酸: Synonyms: Hyp; |
Example Units
| Unit | Source |
|---|---|
| umol/L | Example UCUM Units |
53153-3 Alloisoleucine+Isoleucine+Leucine+Hydroxyproline/Phenylalanine [Molar ratio] in DBS
Term Description
Alloisoleucine+Isoleucine+Leucine+Hydroxyproline/Phenylalanine is a primary marker for Maple syrup urine disease and Hydroxyprolinemia
Source: Regenstrief LOINC
Part Descriptions
LP70081-2 Alloisoleucine+Isoleucine+Leucine+Hydroxyproline
Alloisoleucine+Isoleucine+Leucine+Hydroxyproline is a primary marker for Maple syrup urine disease and Hydroxyprolinemia
Source: Regenstrief LOINC
LP70160-4 Phenylalanine
Phenylalanine is an essential alpha-amino acid. It exists in two forms, a D and an L form, which are enantiomers (mirror-image molecules) of each other. It has a benzyl side chain and its name comes from its chemical structures that consists of a phenyl group substituted for one of the hydrogens in the side chain of alanine. Because of its phenyl group, phenylalanine is an aromatic compound that at room temperature exists as a white, powdery solid. L -phenylalanine (LPA) is an electrically-neutral amino acid and its enantiomer, D -phenylalanine (DPA), can be synthesized artificially. L -phenylalanine can also be converted into L -tyrosine, another one of the twenty protein-forming amino acids.
Copyright Text is available under the Creative Commons Attribution/Share-Alike License. See http://creativecommons.org/licenses/by-sa/3.0/ for details.
Source: Wikipedia, Phenylalanine (Wikipedia)
Observation Required in Panel
Conditional
Type of Entry
Question expects user entry - requires response [Q]
Fully-Specified Name
- Component
- Alloisoleucine+Isoleucine+Leucine+Hydroxyproline/Phenylalanine
- Property
- SRto
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- Aile+Ile+Leu+Hyp/Phe DBS-sRto
- Display Name
- Alloisoleucine+Isoleucine+Leucine+Hydroxyproline/Phenylalanine (DBS) [Molar ratio]
- Consumer Name Alpha Get Info
- Alloisoleucine+Isoleucine+Leucine+Hydroxyproline/Phenylalanine, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.24
- Last Updated
- Version 2.73
- Order vs. Observation
- Both
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 53261-4 | Amino acid newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Aloisoleucina + Isoleucina + Leucina + Hidroxiprolina/Fenilalanina: Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Aloisoleucina + Isoleucina + Leucina + Hidroxiprolina / Fenilalanina: |
| fr-CA | French (Canada) | Alloisoleucine+Isoleucine+Leucine+Hydroxyproline/Phénylalanine: |
| fr-FR | French (France) | Alloisoleucine+isoleucine+leucine+hydroxyproline/phénylalanine: |
| fr-BE | French (Belgium) | Alloisoleucine+Isoleucine+Leucine+Hydroxyproline/Phénylalanine: Synonyms: OH-Proline |
| it-IT | Italian (Italy) | Alloisoleucina+Isoleucina+Leucina+Idrossiprolina/Fenilalanina: Synonyms: Chimica Punto nel tempo (episodio) Rapporto di sostanza Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | alloisoleucine + isoleucine + leucine + hydroxyproline/fenylalanine: Synonyms: phenylalanine |
| pt-BR | Portuguese (Brazil) | Aloisoleucina+Isoleucina+Leucina+Hidroxiprolina/Fenilalanina: Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Аллоизолейцин+Изолейцин+Лейцин+Гидроксипролин/Фенилаланин: Synonyms: Количественный Кровь Кровь сухая капля Мольная доля; |
| tr-TR | Turkish (Turkey) | Alloizolösin+İzolösin+Lösin+Hidroksiprolin/Fenilalanin: Synonyms: SubsOranı |
| zh-CN | Chinese (China) | 别异亮氨酸+异亮氨酸+亮氨酸+羟脯氨酸/苯丙氨酸: Synonyms: Hyp; |
Example Units
| Unit | Source |
|---|---|
| {Ratio} | Example UCUM Units |
53154-1 Alloisoleucine+Isoleucine+Leucine+Hydroxyproline/Alanine [Molar ratio] in DBS
Term Description
Alloisoleucine+Isoleucine+Leucine+Hydroxyproline/Alanine is a primary marker for Maple syrup urine disease and Hydroxyprolinemia.
Source: Regenstrief LOINC
Part Descriptions
LP70081-2 Alloisoleucine+Isoleucine+Leucine+Hydroxyproline
Alloisoleucine+Isoleucine+Leucine+Hydroxyproline is a primary marker for Maple syrup urine disease and Hydroxyprolinemia
Source: Regenstrief LOINC
LP70161-2 Alanine
Alanine is a non-essential amino acid that exists as two distinct enantiomers: L-alanine and D-alanine. Alanine is one of the primary amino acids (secondary to leucine) used for protein construction. It is produced from pyruvate, exists in high levels in plasma, and is involved in the metabolism of sugar and organic acids.[PubChem: Alanine] Alanine acts as a substrate for alanine aminotransferase (ALT), an enzyme commonly measured to determine liver health. Increased alanine levels are seen in patients with lactic acidosis, carbamoyl phosphate synthetase deficiency, histidinemia, hyperprolinemia, and ornithine transcarbamylase deficiency. In patients with a mitochondrial disease, elevated alanine levels are primarily seen during times of physiologic stress or regression. PMID: 18243024
Source: Regenstrief LOINC
Observation Required in Panel
Conditional
Type of Entry
Question expects user entry - requires response [Q]
Fully-Specified Name
- Component
- Alloisoleucine+Isoleucine+Leucine+Hydroxyproline/Alanine
- Property
- SRto
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- Aile+Ile+Leu+Hyp/Alanine DBS-sRto
- Display Name
- Alloisoleucine+Isoleucine+Leucine+Hydroxyproline/Alanine (DBS) [Molar ratio]
- Consumer Name Alpha Get Info
- Alloisoleucine+Isoleucine+Leucine+Hydroxyproline/Alanine, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.24
- Last Updated
- Version 2.73
- Order vs. Observation
- Both
- Common Test Rank Get Info
- 19229
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 53261-4 | Amino acid newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Aloisoleucina + Isoleucina + Leucina + Hidroxiprolina/Alanina: Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Aloisoleucina + Isoleucina + Leucina + Hidroxiprolina / Alanina: |
| fr-CA | French (Canada) | Alloisoleucine+Isoleucine+Leucine+Hydroxyproline/Alanine: |
| fr-FR | French (France) | Alloisoleucine+isoleucine+leucine+hydroxyproline/alanine: |
| fr-BE | French (Belgium) | Alloisoleucine+Isoleucine+Leucine+Hydroxyproline/Alanine: Synonyms: OH-Proline |
| it-IT | Italian (Italy) | Alloisoleucina+Isoleucina+Leucina+Idrossiprolina/Alanina: Synonyms: Chimica Punto nel tempo (episodio) Rapporto di sostanza Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | alloisoleucine + isoleucine + leucine + hydroxyproline/alanine: |
| pt-BR | Portuguese (Brazil) | Aloisoleucina+Isoleucina+Leucina+Hidroxiprolina/Alanina: Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Аллоизолейцин+Изолейцин+Лейцин+Гидроксипролин/Аланин: Synonyms: Количественный Кровь Кровь сухая капля Мольная доля; |
| tr-TR | Turkish (Turkey) | Alloizolösin+İzolösin+Lösin+Hidroksiprolin/Alanin: Synonyms: SubsOranı |
| zh-CN | Chinese (China) | 别异亮氨酸+异亮氨酸+亮氨酸+羟脯氨酸/丙氨酸: Synonyms: Ala Ala; |
Example Units
| Unit | Source |
|---|---|
| {Ratio} | Example UCUM Units |
47562-4 Arginine [Moles/volume] in DBS
Part Descriptions
LP15416-8 Arginine
Arginine (symbol Arg or R) is an amino acid. The L-form (L-arginine) is one of the 20 most common natural amino acids. In mammals, arginine is classified as a conditionally essential amino acid, depending on the developmental stage and health status of the individuals. Infants are unable to effectively synthesize arginine, making it nutritionally essential for them. Adults, however, are able to synthesize arginine in the urea cycle. The body uses arginine for a variety of purposes, including boosting immune system function and improving blood flow. Arginine sources include diet, medication, and/or nutritional supplements. Dietary sources include meat, dairy products and fish.
Source: Medline Plus, MedlinePlus: L-arginine
Observation Required in Panel
Conditional
Type of Entry
Question expects user entry - requires response [Q]
Fully-Specified Name
- Component
- Arginine
- Property
- SCnc
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- Arginine DBS-sCnc
- Display Name
- Arginine (DBS) [Moles/Vol]
- Consumer Name Alpha Get Info
- Arginine, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.21
- Last Updated
- Version 2.73
- Order vs. Observation
- Both
- Common Test Rank Get Info
- 19379
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 53261-4 | Amino acid newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| de-AT | German (Austria) | Synonyms: Arginin /Trockenblut |
| es-ES | Spanish (Spain) | Arginina: Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Arginina: |
| et-EE | Estonian (Estonia) | Arginiin: Synonyms: Aine kontsentratsioon Juhuslik Kvantitatiivne Veri |
| fr-CA | French (Canada) | Arginine: |
| fr-FR | French (France) | Arginine: |
| fr-BE | French (Belgium) | Arginine: |
| it-IT | Italian (Italy) | Arginina: Synonyms: Chimica Concentrazione di Sostanza Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | arginine: |
| pt-BR | Portuguese (Brazil) | Arginina: Synonyms: Arg; |
| ru-RU | Russian (Russian Federation) | Аргинин: Synonyms: Количественный Кровь Кровь сухая капля Молярность; |
| tr-TR | Turkish (Turkey) | Arjinin: |
| zh-CN | Chinese (China) | 精氨酸: Synonyms: 2-氨基-5-胍基戊酸; |
Example Units
| Unit | Source |
|---|---|
| umol/L | Example UCUM Units |
75214-7 Arginine/Ornithine [Molar ratio] in DBS
Term Description
Arginine/Ornithine is a marker for argininemia, which is one of the secondary conditions on the HHS Secretary's Recommended Uniform Screening Panel for newborn screening.
Source: Regenstrief LOINC
Part Descriptions
LP15416-8 Arginine
Arginine (symbol Arg or R) is an amino acid. The L-form (L-arginine) is one of the 20 most common natural amino acids. In mammals, arginine is classified as a conditionally essential amino acid, depending on the developmental stage and health status of the individuals. Infants are unable to effectively synthesize arginine, making it nutritionally essential for them. Adults, however, are able to synthesize arginine in the urea cycle. The body uses arginine for a variety of purposes, including boosting immune system function and improving blood flow. Arginine sources include diet, medication, and/or nutritional supplements. Dietary sources include meat, dairy products and fish.
Source: Medline Plus, MedlinePlus: L-arginine
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Arginine/Ornithine
- Property
- SRto
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- Arginine/Ornithine DBS-sRto
- Display Name
- Arginine/Ornithine (DBS) [Molar ratio]
- Consumer Name Alpha Get Info
- Arginine/Ornithine, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.48
- Last Updated
- Version 2.61
- Order vs. Observation
- Both
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 53261-4 | Amino acid newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Arginina/Ornitina: Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Arginina / Ornitina: |
| fr-FR | French (France) | Arginine/ornithine: |
| it-IT | Italian (Italy) | Arginina/Ornitina: Synonyms: Chimica Punto nel tempo (episodio) Rapporto di sostanza Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | arginine/ornithine: |
| pt-BR | Portuguese (Brazil) | Arginina/Ornitina: |
| ru-RU | Russian (Russian Federation) | Аргинин/Орнитин: Synonyms: Количественный Кровь Кровь сухая капля Мольная доля; |
| tr-TR | Turkish (Turkey) | Arjinin/Ornitin: Synonyms: SubsOranı |
| zh-CN | Chinese (China) | 精氨酸/鸟氨酸: Synonyms: 2,5-二氨基戊酸; |
Example Units
| Unit | Source |
|---|---|
| {ratio} | Example UCUM Units |
53398-4 Arginine/Phenylalanine [Molar ratio] in DBS
Part Descriptions
LP15416-8 Arginine
Arginine (symbol Arg or R) is an amino acid. The L-form (L-arginine) is one of the 20 most common natural amino acids. In mammals, arginine is classified as a conditionally essential amino acid, depending on the developmental stage and health status of the individuals. Infants are unable to effectively synthesize arginine, making it nutritionally essential for them. Adults, however, are able to synthesize arginine in the urea cycle. The body uses arginine for a variety of purposes, including boosting immune system function and improving blood flow. Arginine sources include diet, medication, and/or nutritional supplements. Dietary sources include meat, dairy products and fish.
Source: Medline Plus, MedlinePlus: L-arginine
LP70160-4 Phenylalanine
Phenylalanine is an essential alpha-amino acid. It exists in two forms, a D and an L form, which are enantiomers (mirror-image molecules) of each other. It has a benzyl side chain and its name comes from its chemical structures that consists of a phenyl group substituted for one of the hydrogens in the side chain of alanine. Because of its phenyl group, phenylalanine is an aromatic compound that at room temperature exists as a white, powdery solid. L -phenylalanine (LPA) is an electrically-neutral amino acid and its enantiomer, D -phenylalanine (DPA), can be synthesized artificially. L -phenylalanine can also be converted into L -tyrosine, another one of the twenty protein-forming amino acids.
Copyright Text is available under the Creative Commons Attribution/Share-Alike License. See http://creativecommons.org/licenses/by-sa/3.0/ for details.
Source: Wikipedia, Phenylalanine (Wikipedia)
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Arginine/Phenylalanine
- Property
- SRto
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- Arginine/Phe DBS-sRto
- Display Name
- Arginine/Phenylalanine (DBS) [Molar ratio]
- Consumer Name Alpha Get Info
- Arginine/Phenylalanine, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.24
- Last Updated
- Version 2.73
- Order vs. Observation
- Observation
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 53261-4 | Amino acid newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Arginina/Fenilalanina: Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Arginina / Fenilalanina: |
| fr-CA | French (Canada) | Arginine/Phénylalanine: |
| fr-FR | French (France) | Arginine/phénylalanine: |
| fr-BE | French (Belgium) | Arginine/Phénylalanine: |
| it-IT | Italian (Italy) | Arginina/Fenilalanina: Synonyms: Chimica Punto nel tempo (episodio) Rapporto di sostanza Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | arginine/fenylalanine: Synonyms: phenylalanine |
| pt-BR | Portuguese (Brazil) | Arginina/Fenilalanina: Synonyms: Arg; |
| ru-RU | Russian (Russian Federation) | Аргинин/Фенилаланин: Synonyms: Количественный Кровь Кровь сухая капля Мольная доля; |
| tr-TR | Turkish (Turkey) | Arjinin/Fenilalanin: Synonyms: SubsOranı |
| zh-CN | Chinese (China) | 精氨酸/苯丙氨酸: Synonyms: 2-氨基-5-胍基戊酸; |
Example Units
| Unit | Source |
|---|---|
| {Ratio} | Example UCUM Units |
53062-6 Argininosuccinate [Moles/volume] in DBS
Part Descriptions
LP15417-6 Argininosuccinate
Argininosuccinic acid is a chemical compound that belongs to the class of the amino acids. Some cells synthesize it from citrulline, aspartic acid and use it as a precursor for arginine in the urea cycle or Citrulline-NO cycle. The enzyme that catalyzes the reaction is ASS.
Copyright Text is available under the Creative Commons Attribution/Share-Alike License. See http://creativecommons.org/licenses/by-sa/3.0/ for details.
Source: Wikipedia, Argininosuccinate (Wikipedia)
LP15417-6 Argininosuccinate
Argininosuccinate is a primary marker for Argininosuccinic aciduria.
Source: Regenstrief LOINC
Observation Required in Panel
Conditional
Type of Entry
Question expects user entry - requires response [Q]
Fully-Specified Name
- Component
- Argininosuccinate
- Property
- SCnc
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- Argininosuccinate DBS-sCnc
- Display Name
- Argininosuccinate (DBS) [Moles/Vol]
- Consumer Name Alpha Get Info
- Argininosuccinate, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.24
- Last Updated
- Version 2.73
- Order vs. Observation
- Both
- Common Test Rank Get Info
- 19840
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 53261-4 | Amino acid newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| de-DE | German (Germany) | Argininosuccinat: |
| es-ES | Spanish (Spain) | Arginosuccinato: Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Argininosuccinato: |
| et-EE | Estonian (Estonia) | Argininosuksinaat: Synonyms: Aine kontsentratsioon Juhuslik Kvantitatiivne Veri |
| fr-CA | French (Canada) | Argininosuccinate: |
| fr-FR | French (France) | Argininosuccinate: |
| fr-BE | French (Belgium) | Argininosuccinate: |
| it-IT | Italian (Italy) | Argininosuccinato: Synonyms: Chimica Concentrazione di Sostanza Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | argininosuccinaat: |
| pt-BR | Portuguese (Brazil) | Argininosuccinato: Synonyms: ASA; |
| ru-RU | Russian (Russian Federation) | Аргининосукцинат: Synonyms: Количественный Кровь Кровь сухая капля Молярность; |
| tr-TR | Turkish (Turkey) | Arjininosüksinat: |
| zh-CN | Chinese (China) | 精氨基琥珀酸: Synonyms: 克分子浓度; |
Example Units
| Unit | Source |
|---|---|
| umol/L | Example UCUM Units |
53200-2 Argininosuccinate/Arginine [Molar ratio] in DBS
Term Description
Argininosuccinate/Arginine is a primary marker for Argininosuccinic aciduria.
Source: Regenstrief LOINC
Part Descriptions
LP15417-6 Argininosuccinate
Argininosuccinic acid is a chemical compound that belongs to the class of the amino acids. Some cells synthesize it from citrulline, aspartic acid and use it as a precursor for arginine in the urea cycle or Citrulline-NO cycle. The enzyme that catalyzes the reaction is ASS.
Copyright Text is available under the Creative Commons Attribution/Share-Alike License. See http://creativecommons.org/licenses/by-sa/3.0/ for details.
Source: Wikipedia, Argininosuccinate (Wikipedia)
LP15417-6 Argininosuccinate
Argininosuccinate is a primary marker for Argininosuccinic aciduria.
Source: Regenstrief LOINC
Observation Required in Panel
Conditional
Type of Entry
Question expects user entry - requires response [Q]
Fully-Specified Name
- Component
- Argininosuccinate/Arginine
- Property
- SRto
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- Argininosuccinate/Arginine DBS-sRto
- Display Name
- Argininosuccinate/Arginine (DBS) [Molar ratio]
- Consumer Name Alpha Get Info
- Argininosuccinate/Arginine, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.24
- Last Updated
- Version 2.73
- Order vs. Observation
- Both
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 53261-4 | Amino acid newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Arginosuccinato/Arginina: Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Argininosuccinato / Arginina: |
| fr-CA | French (Canada) | Argininosuccinate/Arginine: |
| fr-FR | French (France) | Argininosuccinate/arginine: |
| fr-BE | French (Belgium) | Argininosuccinate/Arginine: |
| it-IT | Italian (Italy) | Argininosuccinato/Arginina: Synonyms: Chimica Punto nel tempo (episodio) Rapporto di sostanza Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | argininosuccinaat/arginine: |
| pt-BR | Portuguese (Brazil) | Argininosuccinato/Arginina: Synonyms: ASA; |
| ru-RU | Russian (Russian Federation) | Аргининосукцинат/Аргинин: Synonyms: Количественный Кровь Кровь сухая капля Мольная доля; |
| tr-TR | Turkish (Turkey) | Arjininosüksinat/Arjinin: Synonyms: SubsOranı |
| zh-CN | Chinese (China) | 精氨基琥珀酸/精氨酸: Synonyms: 2-氨基-5-胍基戊酸 2-氨基-5-胍基戊酸; |
Example Units
| Unit | Source |
|---|---|
| {Ratio} | Example UCUM Units |
53155-8 Asparagine+Ornithine [Moles/volume] in DBS
Part Descriptions
LP70082-0 Asparagine+Ornithine
Asparagine+Ornithine is a primary marker for Hyper ORN. Secondary marker for Hyperornithinemia-Hyperammonemia-Homocitrullinuria syndrome.
Source: Regenstrief LOINC
Observation Required in Panel
Conditional
Type of Entry
Question expects user entry - requires response [Q]
Fully-Specified Name
- Component
- Asparagine+Ornithine
- Property
- SCnc
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- Asn+Orn DBS-sCnc
- Display Name
- Asparagine+Ornithine (DBS) [Moles/Vol]
- Consumer Name Alpha Get Info
- Asparagine+Ornithine, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.24
- Last Updated
- Version 2.73
- Order vs. Observation
- Observation
- Common Test Rank Get Info
- 17405
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 53261-4 | Amino acid newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Asparragina + Ornitina: Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Asparagina + Ornitina: |
| et-EE | Estonian (Estonia) | Asparagiin + ornitiin: Synonyms: Aine kontsentratsioon Juhuslik Kvantitatiivne Veri |
| fr-CA | French (Canada) | Asparagine+Ornithine: |
| fr-FR | French (France) | Asparagine+ornithine: |
| fr-BE | French (Belgium) | Asparagine+Ornithine: |
| it-IT | Italian (Italy) | Asparagina+Ornitina: Synonyms: Chimica Concentrazione di Sostanza Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | asparagine + ornithine: |
| pt-BR | Portuguese (Brazil) | Asparagina+Ornitina: Synonyms: Orn; |
| ru-RU | Russian (Russian Federation) | Аспарагин+Орнитин: Synonyms: Количественный Кровь Кровь сухая капля Молярность; |
| tr-TR | Turkish (Turkey) | Asparajin+ornitin: |
| zh-CN | Chinese (China) | 天冬酰胺+鸟氨酸: Synonyms: 2,5-二氨基戊酸; |
Example Units
| Unit | Source |
|---|---|
| umol/L | Example UCUM Units |
53395-0 Asparagine+Ornithine/Serine [Molar ratio] in DBS
Part Descriptions
LP70082-0 Asparagine+Ornithine
Asparagine+Ornithine is a primary marker for Hyper ORN. Secondary marker for Hyperornithinemia-Hyperammonemia-Homocitrullinuria syndrome.
Source: Regenstrief LOINC
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Asparagine+Ornithine/Serine
- Property
- SRto
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- Asn+Orn/Serine DBS-sRto
- Display Name
- Asparagine+Ornithine/Serine (DBS) [Molar ratio]
- Consumer Name Alpha Get Info
- Asparagine+Ornithine/Serine, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.24
- Last Updated
- Version 2.70
- Order vs. Observation
- Observation
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 53261-4 | Amino acid newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Asparragina + Ornitina/Serina: Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Asparagina + Ornitina / Serina: |
| fr-CA | French (Canada) | Asparagine+Ornithine/Sérine: |
| fr-FR | French (France) | Asparagine+ornithine/sérine: |
| fr-BE | French (Belgium) | Asparagine+Ornithine/Sérine: |
| it-IT | Italian (Italy) | Asparagina+Ornitina/Serina: Synonyms: Chimica Punto nel tempo (episodio) Rapporto di sostanza Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | asparagine + ornithine/serine: |
| pt-BR | Portuguese (Brazil) | Asparagina+Ornitina/Serina: Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Аспарагин+Орнитин/Серин: Synonyms: Количественный Кровь Кровь сухая капля Мольная доля; |
| tr-TR | Turkish (Turkey) | Asparajin+ornitin/Serin: Synonyms: SubsOranı |
| zh-CN | Chinese (China) | 天冬酰胺+鸟氨酸/丝氨酸: Synonyms: 2,5-二氨基戊酸; |
Example Units
| Unit | Source |
|---|---|
| {Ratio} | Example UCUM Units |
53396-8 Asparagine+Ornithine/Phenylalanine [Molar ratio] in DBS
Part Descriptions
LP70082-0 Asparagine+Ornithine
Asparagine+Ornithine is a primary marker for Hyper ORN. Secondary marker for Hyperornithinemia-Hyperammonemia-Homocitrullinuria syndrome.
Source: Regenstrief LOINC
LP70160-4 Phenylalanine
Phenylalanine is an essential alpha-amino acid. It exists in two forms, a D and an L form, which are enantiomers (mirror-image molecules) of each other. It has a benzyl side chain and its name comes from its chemical structures that consists of a phenyl group substituted for one of the hydrogens in the side chain of alanine. Because of its phenyl group, phenylalanine is an aromatic compound that at room temperature exists as a white, powdery solid. L -phenylalanine (LPA) is an electrically-neutral amino acid and its enantiomer, D -phenylalanine (DPA), can be synthesized artificially. L -phenylalanine can also be converted into L -tyrosine, another one of the twenty protein-forming amino acids.
Copyright Text is available under the Creative Commons Attribution/Share-Alike License. See http://creativecommons.org/licenses/by-sa/3.0/ for details.
Source: Wikipedia, Phenylalanine (Wikipedia)
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Asparagine+Ornithine/Phenylalanine
- Property
- SRto
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- Asn+Orn/Phe DBS-sRto
- Display Name
- Asparagine+Ornithine/Phenylalanine (DBS) [Molar ratio]
- Consumer Name Alpha Get Info
- Asparagine+Ornithine/Phenylalanine, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.24
- Last Updated
- Version 2.70
- Order vs. Observation
- Observation
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 53261-4 | Amino acid newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Asparragina + Ornitina/Fenilalanina: Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Asparagina + Ornitina / Fenilalanina: |
| fr-CA | French (Canada) | Asparagine+Ornithine/Phénylalanine: |
| fr-FR | French (France) | Asparagine+ornithine/phénylalanine: |
| fr-BE | French (Belgium) | Asparagine+Ornithine/Phénylalanine: |
| it-IT | Italian (Italy) | Asparagina+Ornitina/Fenilalanina: Synonyms: Chimica Punto nel tempo (episodio) Rapporto di sostanza Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | asparagine + ornithine/fenylalanine: Synonyms: phenylalanine |
| pt-BR | Portuguese (Brazil) | Asparagina+Ornitina/Fenilalanina: Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Аспарагин+Орнитин/Фенилаланин: Synonyms: Количественный Кровь Кровь сухая капля Мольная доля; |
| tr-TR | Turkish (Turkey) | Asparajin+ornitin/Fenilalanin: Synonyms: SubsOranı |
| zh-CN | Chinese (China) | 天冬酰胺+鸟氨酸/苯丙氨酸: Synonyms: 2,5-二氨基戊酸; |
Example Units
| Unit | Source |
|---|---|
| {Ratio} | Example UCUM Units |
47573-1 Aspartate [Moles/volume] in DBS
Part Descriptions
LP15425-9 Aspartate
Aspartic acid (Asp), also known as aspartate, the name of its anion, is one of the 20 natural proteinogenic amino acids which are the building blocks of proteins. As with each of the 20 natural amino acids, there are two abbreviations commonly used to designate aspartic acid: Asp (three letter) and D (one letter). The abbreviations signifying a choice of either aspartic acid or asparagine are Asx (three-letter) and B (one letter). As its name indicates, aspartic acid is the carboxylic acid analog of asparagine. It is non-essential in mammals, and might serve as an excitatory neurotransmitter in the brain. It is also a metabolite in the urea cycle, and participates in gluconeogenesis. As a neurotransmitter, aspartic acid may provide resistance to fatigue and thus lead to endurance, although the evidence to support this idea is not strong.
Copyright Text is available under the Creative Commons Attribution/Share-Alike License. See http://creativecommons.org/licenses/by-sa/3.0/ for details.
Source: Wikipedia, Aspartate (Wikipedia)
LP15425-9 Aspartate
Aspartic acid is a dicarboxylic amino acid with acidic R groups which is a cosubstrate with glutamic acid for aspartate aminotransferase (AST). Aspartic acid is used in pyrimidine biosynthesis and is a metabolite in the urea cycle and participates in gluconeogenesis. Increased in dicarboxylic aminoaciduria. (Information from ARUP Laboratories 9/14/06)
Source: Regenstrief Institute
Observation Required in Panel
Conditional
Type of Entry
Question expects user entry - requires response [Q]
Fully-Specified Name
- Component
- Aspartate
- Property
- SCnc
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- Aspartate DBS-sCnc
- Display Name
- Aspartate (DBS) [Moles/Vol]
- Consumer Name Alpha Get Info
- Aspartate, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.21
- Last Updated
- Version 2.70
- Order vs. Observation
- Both
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 53261-4 | Amino acid newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Aspartato: Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Aspartato: |
| et-EE | Estonian (Estonia) | Aspartaat: Synonyms: Aine kontsentratsioon Juhuslik Kvantitatiivne Veri |
| fr-CA | French (Canada) | Aspartate: |
| fr-FR | French (France) | Aspartate: |
| fr-BE | French (Belgium) | Aspartate: |
| it-IT | Italian (Italy) | Aspartato: Synonyms: Chimica Concentrazione di Sostanza Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | aspartaat: |
| pt-BR | Portuguese (Brazil) | Aspartato: Synonyms: Asp; |
| ru-RU | Russian (Russian Federation) | Аспартат: Synonyms: Количественный Кровь Кровь сухая капля Молярность; |
| tr-TR | Turkish (Turkey) | Aspartat: |
| zh-CN | Chinese (China) | 天门冬氨酸: Synonyms: Asp; |
Example Units
| Unit | Source |
|---|---|
| umol/L | Example UCUM Units |
42892-0 Citrulline [Moles/volume] in DBS
Part Descriptions
LP15504-1 Citrulline
Citrulline is an alpha amino acid, produced from ornithine and carbamoyl phosphate during the urea cycle. Its name is derived from citrullus, the Latin word for watermelon, from which it was first isolated.
Copyright Text is available under the Creative Commons Attribution/Share-Alike License. See http://creativecommons.org/licenses/by-sa/3.0/ for details.
Source: Wikipedia, Citrulline (Wikipedia)
Observation Required in Panel
Conditional
Type of Entry
Question expects user entry - requires response [Q]
Fully-Specified Name
- Component
- Citrulline
- Property
- SCnc
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- Citrulline DBS-sCnc
- Display Name
- Citrulline (DBS) [Moles/Vol]
- Consumer Name Alpha Get Info
- Citrulline, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.16
- Last Updated
- Version 2.73
- Order vs. Observation
- Both
- Common Test Rank Get Info
- 16315
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 53261-4 | Amino acid newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| de-DE | German (Germany) | Citrullin: |
| de-AT | German (Austria) | Synonyms: Citrullin /Trockenblut |
| es-ES | Spanish (Spain) | Citrulina: Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Citrulina: |
| fr-CA | French (Canada) | Citrulline: |
| fr-FR | French (France) | Citrulline: |
| fr-BE | French (Belgium) | Citrulline: |
| it-IT | Italian (Italy) | Citrullina: Synonyms: Chimica Concentrazione di Sostanza Punto nel tempo (episodio) Sangue Spot sangue secco |
| ko-KR | Korean (Korea, Republic Of) | 시트룰린: |
| nl-NL | Dutch (Netherlands) | citrulline: |
| pt-BR | Portuguese (Brazil) | Citrulina: Synonyms: Cit; |
| ru-RU | Russian (Russian Federation) | Цитруллин: Synonyms: Количественный Кровь Кровь сухая капля Молярность; |
| tr-TR | Turkish (Turkey) | Sitrüllin: |
| zh-CN | Chinese (China) | 瓜氨酸: Synonyms: Citr 克分子浓度; |
Example Units
| Unit | Source |
|---|---|
| umol/L | Example UCUM Units |
54092-2 Citrulline/Arginine [Molar ratio] in DBS
Part Descriptions
LP15504-1 Citrulline
Citrulline is an alpha amino acid, produced from ornithine and carbamoyl phosphate during the urea cycle. Its name is derived from citrullus, the Latin word for watermelon, from which it was first isolated.
Copyright Text is available under the Creative Commons Attribution/Share-Alike License. See http://creativecommons.org/licenses/by-sa/3.0/ for details.
Source: Wikipedia, Citrulline (Wikipedia)
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Citrulline/Arginine
- Property
- SRto
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- Citrulline/Arginine DBS-sRto
- Display Name
- Citrulline/Arginine (DBS) [Molar ratio]
- Consumer Name Alpha Get Info
- Citrulline/Arginine, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.26
- Last Updated
- Version 2.73
- Order vs. Observation
- Observation
- Common Test Rank Get Info
- 15794
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 53261-4 | Amino acid newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Citrulina/Arginina: Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Citrulina / Arginina: |
| fr-CA | French (Canada) | Citrulline/Arginine: |
| fr-FR | French (France) | Citrulline/arginine: |
| fr-BE | French (Belgium) | Citrulline/Arginine: |
| it-IT | Italian (Italy) | Citrullina/Arginina: Synonyms: Chimica Punto nel tempo (episodio) Rapporto di sostanza Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | citrulline/arginine: |
| pt-BR | Portuguese (Brazil) | Citrulina/Arginina: Synonyms: Cit; |
| ru-RU | Russian (Russian Federation) | Цитруллин/Аргинин: Synonyms: Количественный Кровь Кровь сухая капля Мольная доля; |
| tr-TR | Turkish (Turkey) | Sitrüllin/Arjinin: Synonyms: SubsOranı |
| zh-CN | Chinese (China) | 瓜氨酸/精氨酸: Synonyms: 2-氨基-5-胍基戊酸 2-氨基-5-胍基戊酸; |
Example Units
| Unit | Source |
|---|---|
| {Ratio} | Example UCUM Units |
53157-4 Citrulline/Phenylalanine [Molar ratio] in DBS
Term Description
Citrulline/Phenylalanine is a primary marker for Citrullinemia type I, Tyrosinemia type II, Citrullinemia type II and Pyruvate carboxylase deficiency. Secondary marker for Carbamoyltransferase deficiency, Ornithine transcarbamylase deficiency, and Pyruvate carboxylase deficiency.
Source: Regenstrief LOINC
Part Descriptions
LP15504-1 Citrulline
Citrulline is an alpha amino acid, produced from ornithine and carbamoyl phosphate during the urea cycle. Its name is derived from citrullus, the Latin word for watermelon, from which it was first isolated.
Copyright Text is available under the Creative Commons Attribution/Share-Alike License. See http://creativecommons.org/licenses/by-sa/3.0/ for details.
Source: Wikipedia, Citrulline (Wikipedia)
LP70160-4 Phenylalanine
Phenylalanine is an essential alpha-amino acid. It exists in two forms, a D and an L form, which are enantiomers (mirror-image molecules) of each other. It has a benzyl side chain and its name comes from its chemical structures that consists of a phenyl group substituted for one of the hydrogens in the side chain of alanine. Because of its phenyl group, phenylalanine is an aromatic compound that at room temperature exists as a white, powdery solid. L -phenylalanine (LPA) is an electrically-neutral amino acid and its enantiomer, D -phenylalanine (DPA), can be synthesized artificially. L -phenylalanine can also be converted into L -tyrosine, another one of the twenty protein-forming amino acids.
Copyright Text is available under the Creative Commons Attribution/Share-Alike License. See http://creativecommons.org/licenses/by-sa/3.0/ for details.
Source: Wikipedia, Phenylalanine (Wikipedia)
Observation Required in Panel
Conditional
Type of Entry
Question expects user entry - requires response [Q]
Fully-Specified Name
- Component
- Citrulline/Phenylalanine
- Property
- SRto
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- Citrulline/Phe DBS-sRto
- Display Name
- Citrulline/Phenylalanine (DBS) [Molar ratio]
- Consumer Name Alpha Get Info
- Citrulline/Phenylalanine, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.24
- Last Updated
- Version 2.73
- Order vs. Observation
- Both
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 53261-4 | Amino acid newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Citrulina/Fenilalanina: Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Citrulina / Fenilalanina: |
| fr-CA | French (Canada) | Citrulline/Phénylalanine: |
| fr-FR | French (France) | Citrulline/phénylalanine: |
| fr-BE | French (Belgium) | Citrulline/Phénylalanine: |
| it-IT | Italian (Italy) | Citrullina/Fenilalanina: Synonyms: Chimica Punto nel tempo (episodio) Rapporto di sostanza Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | citrulline/fenylalanine: Synonyms: phenylalanine |
| pt-BR | Portuguese (Brazil) | Citrulina/Fenilalanina: Synonyms: Cit; |
| ru-RU | Russian (Russian Federation) | Цитруллин/Фенилаланин: Synonyms: Количественный Кровь Кровь сухая капля Мольная доля; |
| tr-TR | Turkish (Turkey) | Sitrüllin/Fenilalanin: Synonyms: SubsOranı |
| zh-CN | Chinese (China) | 瓜氨酸/苯丙氨酸: Synonyms: Citr Phe Phe; |
Example Units
| Unit | Source |
|---|---|
| {Ratio} | Example UCUM Units |
53399-2 Citrulline/Tyrosine [Molar ratio] in DBS
Part Descriptions
LP15504-1 Citrulline
Citrulline is an alpha amino acid, produced from ornithine and carbamoyl phosphate during the urea cycle. Its name is derived from citrullus, the Latin word for watermelon, from which it was first isolated.
Copyright Text is available under the Creative Commons Attribution/Share-Alike License. See http://creativecommons.org/licenses/by-sa/3.0/ for details.
Source: Wikipedia, Citrulline (Wikipedia)
LP32175-9 Tyrosine
Tyrosine (from the Greek tyros, meaning cheese, as it was first discovered in cheese[ citationneeded ]), 4-hydroxyphenylalanine, or 2-amino-3(4-hydroxyphenyl)-propanoic acid, is one of the 20 amino acids that are used by cells to synthesize proteins. It has a phenol side chain with a hydroxyl group. Upon the location of the hydroxyl group, there are three structural isomers of Tyr, namely para-Tyr (p-Tyr), meta-Tyr (m-Tyr) and ortho-Tyr (o-Tyr). Enzymatically, only the first isomer (p-Tyr) is produced from L-Phe by the Phe-hydroxylase enzyme. The other two isoforms, m-Tyr and o-Tyr can be produced as a consequence of free radical attack on Phe in states with increased oxidative stress.
Copyright Text is available under the Creative Commons Attribution/Share-Alike License. See http://creativecommons.org/licenses/by-sa/3.0/ for details.
Source: Wikipedia, Tyrosine (Wikipedia)
LP32175-9 Tyrosine
A non-essential amino acid. In animals it is synthesized from PHENYLALANINE. It is also the precursor of EPINEPHRINE; THYROID HORMONES; and melanin.
Source: National Library of Medicine, MeSH 2006
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Citrulline/Tyrosine
- Property
- SRto
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- Citrulline/Tyr DBS-sRto
- Display Name
- Citrulline/Tyrosine (DBS) [Molar ratio]
- Consumer Name Alpha Get Info
- Citrulline/Tyrosine, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.24
- Last Updated
- Version 2.73
- Order vs. Observation
- Observation
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 53261-4 | Amino acid newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Citrulina/Tirosina: Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Citrulina / Tirosina: |
| fr-CA | French (Canada) | Citrulline/Tyrosine: |
| fr-FR | French (France) | Citrulline/tyrosine: |
| fr-BE | French (Belgium) | Citrulline/Tyrosine: |
| it-IT | Italian (Italy) | Citrullina/Tirosina: Synonyms: Chimica Punto nel tempo (episodio) Rapporto di sostanza Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | citrulline/tyrosine: |
| pt-BR | Portuguese (Brazil) | Citrulina/Tirosina: Synonyms: Cit; |
| ru-RU | Russian (Russian Federation) | Цитруллин/Тирозин: Synonyms: Количественный Кровь Кровь сухая капля Мольная доля; |
| tr-TR | Turkish (Turkey) | Sitrüllin/Tirozin: Synonyms: SubsOranı |
| zh-CN | Chinese (China) | 瓜氨酸/酪氨酸: Synonyms: 3-对羟苯基丙氨酸; |
Example Units
| Unit | Source |
|---|---|
| {Ratio} | Example UCUM Units |
47623-4 Glutamate [Moles/volume] in DBS
Part Descriptions
LP15605-6 Glutamate
Glutamic acid (Glu), also referred to as glutamate (the anion), is one of the 20 proteinogenic, essential amino acids.
Copyright Text is available under the Creative Commons Attribution/Share-Alike License. See http://creativecommons.org/licenses/by-sa/3.0/ for details.
Source: Wikipedia, Glutamate (Wikipedia)
Observation Required in Panel
Conditional
Type of Entry
Question expects user entry - requires response [Q]
Fully-Specified Name
- Component
- Glutamate
- Property
- SCnc
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- Glutamate DBS-sCnc
- Display Name
- Glutamate (DBS) [Moles/Vol]
- Consumer Name Alpha Get Info
- Glutamate, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.21
- Last Updated
- Version 2.70
- Order vs. Observation
- Both
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 53261-4 | Amino acid newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Glutamato: Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Glutamato: |
| et-EE | Estonian (Estonia) | Glutamaat: Synonyms: Aine kontsentratsioon Juhuslik Kvantitatiivne Veri |
| fr-CA | French (Canada) | Glutamate: |
| fr-FR | French (France) | Glutamate: |
| fr-BE | French (Belgium) | Glutamate: |
| it-IT | Italian (Italy) | Glutammato: Synonyms: Chimica Concentrazione di Sostanza Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | glutamaat: |
| pt-BR | Portuguese (Brazil) | Glutamato: Synonyms: Glu; |
| ru-RU | Russian (Russian Federation) | Глутамат: Synonyms: Количественный Кровь Кровь сухая капля Молярность; |
| tr-TR | Turkish (Turkey) | Glutamat: |
| zh-CN | Chinese (China) | 谷氨酸: Synonyms: Glu 克分子浓度; |
Example Units
| Unit | Source |
|---|---|
| umol/L | Example UCUM Units |
47633-3 Glycine [Moles/volume] in DBS
Part Descriptions
LP15620-5 Glycine
A non-essential amino acid found primarily in gelatin and silk fibroin. It also inhibits neurotransmitters.
Source: National Library of Medicine, MeSH 2006
LP15620-5 Glycine
Glycine is a hydrophilic amino acid with uncharged polar groups and is used in the biosynthesis of purines and porphyrins. Increased with nonketotic hyperglycinemia, arginosuccinic aciduria, carbamoyl phosphate synthetase deficiency, lysinuric protein intolerance, hyperprolinemia, iminoglycinuria, and ornithine transcarbamylase deficiency.
Source: Regenstrief Institute
Observation Required in Panel
Conditional
Type of Entry
Question expects user entry - requires response [Q]
Fully-Specified Name
- Component
- Glycine
- Property
- SCnc
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- Glycine DBS-sCnc
- Display Name
- Glycine (DBS) [Moles/Vol]
- Consumer Name Alpha Get Info
- Glycine, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.21
- Last Updated
- Version 2.73
- Order vs. Observation
- Both
- Common Test Rank Get Info
- 19175
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 53261-4 | Amino acid newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| de-AT | German (Austria) | Synonyms: Glycin /Trockenblut |
| es-ES | Spanish (Spain) | Glicina: Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Glicina: |
| et-EE | Estonian (Estonia) | Glütsiin: Synonyms: Aine kontsentratsioon Juhuslik Kvantitatiivne Veri |
| fr-CA | French (Canada) | Glycine: |
| fr-FR | French (France) | Glycine: |
| fr-BE | French (Belgium) | Glycine: |
| it-IT | Italian (Italy) | Glicina: Synonyms: Chimica Concentrazione di Sostanza Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | glycine: |
| pt-BR | Portuguese (Brazil) | Glicina: Synonyms: Gly; |
| ru-RU | Russian (Russian Federation) | Глицин: Synonyms: Количественный Кровь Кровь сухая капля Молярность; |
| tr-TR | Turkish (Turkey) | Glisin: |
| zh-CN | Chinese (China) | 甘氨酸: Synonyms: Gly; |
Example Units
| Unit | Source |
|---|---|
| umol/L | Example UCUM Units |
93488-5 Guanidinoacetate [Moles/volume] in DBS
Part Descriptions
LP30825-1 Guanidinoacetate
Guanidinoacetate is the immediate precursor of creatine. Guanidinoacetate methyltransferase (GAMT) is the enzyme responsible for converting guanidinoacetate to creatine, and GAMT deficiency causes is a rare, autosomal recessive disorder whose manifestations include seizures, developmental delay, learning difficulties, and autism. Motor function is relatively spared. GAMT deficiency leads to elevated levels of plasma and urine guanidinoacetate, and low plasma creatine and creatinine levels. Elevated levels of guanidinoacetate in the brain are one cause of seizures in patients with GAMT deficiency. The primary treatment is creatine supplementation, which may be combined with ornithine supplementation and arginine restriction. Early diagnosis and treatment may prevent organ damage and preserve cognitive function. If the diagnosis does not occur early and brain damage has already occurred at the time of diagnosis, creatine supplementation can still help control seizures and improve quality of life. PMID: 28119378
Source: Regenstrief LOINC
Fully-Specified Name
- Component
- Guanidinoacetate
- Property
- SCnc
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- Guanidinoacetate DBS-sCnc
- Display Name
- Guanidinoacetate (DBS) [Moles/Vol]
- Consumer Name Alpha Get Info
- Guanidinoacetate, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.67
- Last Updated
- Version 2.67
- Order vs. Observation
- Both
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 53261-4 | Amino acid newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-MX | Spanish (Mexico) | Guanidinoacetato: |
| es-ES | Spanish (Spain) | Guanidinoacetato: Synonyms: Cuantitativo |
| et-EE | Estonian (Estonia) | Guanidinoatsetaat: Synonyms: Aine kontsentratsioon Juhuslik Kvantitatiivne Veri |
| fr-FR | French (France) | Guanidinoacétate: |
| fr-BE | French (Belgium) | Guanidinoacétate: |
| fr-CA | French (Canada) | Guanidinoacétate: |
| it-IT | Italian (Italy) | Guanidinoacetato: Synonyms: Chimica Concentrazione di Sostanza Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | guanidinoacetaat: |
| ru-RU | Russian (Russian Federation) | Гуанидинацетат: Synonyms: Количественный Кровь Кровь сухая капля Молярность; |
| tr-TR | Turkish (Turkey) | Guanidinoasetat: |
| zh-CN | Chinese (China) | 胍基乙酸: Synonyms: GAA; |
Example Units
| Unit | Source |
|---|---|
| umol/L | Example UCUM Units |
47643-2 Histidine [Moles/volume] in DBS
Part Descriptions
LP15637-9 Histidine
An essential amino acid that is required for the synthesis of histamine.
Source: National Library of Medicine, MeSH 2006
LP15637-9 Histidine
Histidine is one of the 20 naturally occuring amino acids with basic R groups. It serves as a precursor for histamine and carnosine biosynthesis. Its levels are increased with histidinemia and formiminoglutamic aciduria. (Information from ARUP Laboratories 9/14/06). Common dietary sources of histidine are: apples, pomogranates, alfalfa, beets, carrots, celery, cucumber, dandelion, endive, garlic, radish, spinach, and turnip greens.
Source: Regenstrief Institute
Observation Required in Panel
Conditional
Type of Entry
Question expects user entry - requires response [Q]
Fully-Specified Name
- Component
- Histidine
- Property
- SCnc
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- Histidine DBS-sCnc
- Display Name
- Histidine (DBS) [Moles/Vol]
- Consumer Name Alpha Get Info
- Histidine, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.21
- Last Updated
- Version 2.70
- Order vs. Observation
- Both
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 53261-4 | Amino acid newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Histidina: Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Histidina: |
| et-EE | Estonian (Estonia) | Histidiin: Synonyms: Aine kontsentratsioon Juhuslik Kvantitatiivne Veri |
| fr-CA | French (Canada) | Histidine: |
| fr-FR | French (France) | Histidine: |
| fr-BE | French (Belgium) | Histidine: |
| it-IT | Italian (Italy) | Istidina: Synonyms: Chimica Concentrazione di Sostanza Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | histidine: |
| pt-BR | Portuguese (Brazil) | Histidina: Synonyms: His; |
| ru-RU | Russian (Russian Federation) | Гистидин: Synonyms: Количественный Кровь Кровь сухая капля Молярность; |
| tr-TR | Turkish (Turkey) | Histidin: |
| zh-CN | Chinese (China) | 组氨酸: Synonyms: His; |
Example Units
| Unit | Source |
|---|---|
| umol/L | Example UCUM Units |
53158-2 Homocitrulline [Moles/volume] in DBS
Part Descriptions
LP15640-3 Homocitrulline
Homocitrulline is a primary marker for Hyperornithinemia-Hyperammonemia-Homocitrullinuria. Secondary marker for Short-chain L-3-hydroxy acyl-CoA dehydrogenase deficiency.
Source: Regenstrief Institute
Observation Required in Panel
Conditional
Type of Entry
Question expects user entry - requires response [Q]
Fully-Specified Name
- Component
- Homocitrulline
- Property
- SCnc
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- Homocitrulline DBS-sCnc
- Display Name
- Homocitrulline (DBS) [Moles/Vol]
- Consumer Name Alpha Get Info
- Homocitrulline, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.24
- Last Updated
- Version 2.70
- Order vs. Observation
- Both
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 53261-4 | Amino acid newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Homocitrulina: Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Homocitrulina: |
| et-EE | Estonian (Estonia) | Homotsitruliin: Synonyms: Aine kontsentratsioon Juhuslik Kvantitatiivne Veri |
| fr-CA | French (Canada) | Homocitrulline: |
| fr-FR | French (France) | Homocitrulline: |
| fr-BE | French (Belgium) | Homocitrulline: |
| it-IT | Italian (Italy) | Omocitrullina: Synonyms: Chimica Concentrazione di Sostanza Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | homocitrulline: |
| pt-BR | Portuguese (Brazil) | Homocitrulina: Synonyms: Hci; |
| ru-RU | Russian (Russian Federation) | Гомоцитруллин: Synonyms: Количественный Кровь Кровь сухая капля Молярность; |
| tr-TR | Turkish (Turkey) | Homositrüllin: |
| zh-CN | Chinese (China) | 同型瓜氨酸: Synonyms: Hci 克分子浓度; |
Example Units
| Unit | Source |
|---|---|
| umol/L | Example UCUM Units |
47689-5 Lysine [Moles/volume] in DBS
Part Descriptions
LP15716-1 Lysine
An essential amino acid often added to animal feed.
Source: National Library of Medicine, MeSH 2006
LP15716-1 Lysine
Lysine is an essential basic amino acid that plays a major role in calcium absorption and the production of hormones, enzymes, and antibodies. Lack of lysine can result in niacin deficiency and cause the pellagra. Other diseases associated with lysine include hyperlysinemia, lysine intolerance, carbamoyl phosphate synthetase deficiency, and saccharopinuria (saccharopine is an intermediate in the metabolism of lysine).
Source: Regenstrief Institute
Observation Required in Panel
Conditional
Type of Entry
Question expects user entry - requires response [Q]
Fully-Specified Name
- Component
- Lysine
- Property
- SCnc
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- Lysine DBS-sCnc
- Display Name
- Lysine (DBS) [Moles/Vol]
- Consumer Name Alpha Get Info
- Lysine, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.21
- Last Updated
- Version 2.70
- Order vs. Observation
- Both
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 53261-4 | Amino acid newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Lisina: Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Lisina: |
| et-EE | Estonian (Estonia) | Lüsiin: Synonyms: Aine kontsentratsioon Juhuslik Kvantitatiivne Veri |
| fr-CA | French (Canada) | Lysine: |
| fr-FR | French (France) | Lysine: |
| fr-BE | French (Belgium) | Lysine: |
| it-IT | Italian (Italy) | Lisina: Synonyms: Chimica Concentrazione di Sostanza Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | lysine: |
| pt-BR | Portuguese (Brazil) | Lisina: Synonyms: Lys; |
| ru-RU | Russian (Russian Federation) | Лизин: Synonyms: Количественный Кровь Кровь сухая капля Молярность; |
| tr-TR | Turkish (Turkey) | Lizin: |
| zh-CN | Chinese (China) | 赖氨酸: Synonyms: 2,6-二氨基已酸; |
Example Units
| Unit | Source |
|---|---|
| umol/L | Example UCUM Units |
47700-0 Methionine [Moles/volume] in DBS
Part Descriptions
LP15730-2 Methionine
Methionine is an essential nonpolar amino acid, and a lipotropic. Methionine and cysteine are the only sulfur-containing proteinogenic amino acids. The methionine derivative S-adenosyl methionine (SAM) serves as a methyl donor. Methionine plays a role in cysteine, carnitine and taurine synthesis by the transsulfuration pathway, lecithin production, the synthesis of phosphatidylcholine and other phospholipids. Improper conversion of methionine can lead to atherosclerosis. Methionine, a chelating agent, is one of only two amino acids encoded by a single codon (AUG) in the standard genetic code (tryptophan, encoded by UGG, is the other). The codon AUG is also significant, in that it carries the Start message for a ribosome to begin protein translation from mRNA. As a consequence, methionine is incorporated into the N-terminal position of all proteins in eukaryotes and archaea during translation, although it is usually removed by post-translational modification.
Copyright Text is available under the Creative Commons Attribution/Share-Alike License. See http://creativecommons.org/licenses/by-sa/3.0/ for details.
Source: Wikipedia, Methionine (Wikipedia)
Observation Required in Panel
Conditional
Type of Entry
Question expects user entry - requires response [Q]
Fully-Specified Name
- Component
- Methionine
- Property
- SCnc
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- Methionine DBS-sCnc
- Display Name
- Methionine (DBS) [Moles/Vol]
- Consumer Name Alpha Get Info
- Methionine, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.21
- Last Updated
- Version 2.73
- Order vs. Observation
- Both
- Common Test Rank Get Info
- 16316
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 53261-4 | Amino acid newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
| 94573-3 | Tyrosinemia newborn screening follow-up and therapeutic monitoring panel - DBS |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| de-AT | German (Austria) | Synonyms: Methionin /Trockenblut |
| es-ES | Spanish (Spain) | Metionina: Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Metionina: |
| et-EE | Estonian (Estonia) | Metioniin: Synonyms: Aine kontsentratsioon Juhuslik Kvantitatiivne Veri |
| fr-CA | French (Canada) | Méthionine: |
| fr-FR | French (France) | Méthionine: |
| fr-BE | French (Belgium) | Méthionine: |
| it-IT | Italian (Italy) | Metionina: Synonyms: Chimica Concentrazione di Sostanza Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | methionine: |
| pt-BR | Portuguese (Brazil) | Metionina: Synonyms: Met; |
| ru-RU | Russian (Russian Federation) | Метионин: Synonyms: Количественный Кровь Кровь сухая капля Молярность; |
| tr-TR | Turkish (Turkey) | Metiyonin: |
| uk-UA | Ukrainian (Ukraine) | Метіонін: Synonyms: Blood; |
| zh-CN | Chinese (China) | 蛋氨酸: Synonyms: Met; |
Example Units
| Unit | Source |
|---|---|
| umol/L | Example UCUM Units |
53397-6 Methionine/Alloisoleucine+Isoleucine+Leucine+Hydroxyproline [Molar ratio] in DBS
Part Descriptions
LP15730-2 Methionine
Methionine is an essential nonpolar amino acid, and a lipotropic. Methionine and cysteine are the only sulfur-containing proteinogenic amino acids. The methionine derivative S-adenosyl methionine (SAM) serves as a methyl donor. Methionine plays a role in cysteine, carnitine and taurine synthesis by the transsulfuration pathway, lecithin production, the synthesis of phosphatidylcholine and other phospholipids. Improper conversion of methionine can lead to atherosclerosis. Methionine, a chelating agent, is one of only two amino acids encoded by a single codon (AUG) in the standard genetic code (tryptophan, encoded by UGG, is the other). The codon AUG is also significant, in that it carries the Start message for a ribosome to begin protein translation from mRNA. As a consequence, methionine is incorporated into the N-terminal position of all proteins in eukaryotes and archaea during translation, although it is usually removed by post-translational modification.
Copyright Text is available under the Creative Commons Attribution/Share-Alike License. See http://creativecommons.org/licenses/by-sa/3.0/ for details.
Source: Wikipedia, Methionine (Wikipedia)
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Methionine/Alloisoleucine+Isoleucine+Leucine+Hydroxyproline
- Property
- SRto
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- Methionine/Aile+Ile+Leu+Hyp DBS-sRto
- Display Name
- Methionine/Alloisoleucine+Isoleucine+Leucine+Hydroxyproline (DBS) [Molar ratio]
- Consumer Name Alpha Get Info
- Methionine/Alloisoleucine+Isoleucine+Leucine+Hydroxyproline, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.24
- Last Updated
- Version 2.73
- Order vs. Observation
- Observation
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 53261-4 | Amino acid newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Metionina/Aloisoleucina + Isoleucina + Leucina + Hidroxiprolina: Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Metionina / Aloisoleucina + Isoleucina + Leucina + Hidroxiprolina: |
| fr-CA | French (Canada) | Méthionine/Alloisoleucine+Isoleucine+Leucine+Hydroxyproline: |
| fr-FR | French (France) | Méthionine/alloisoleucine+isoleucine+leucine+hydroxyproline: |
| fr-BE | French (Belgium) | Méthionine/Alloisoleucine+Isoleucine+Leucine+Hydroxyproline: Synonyms: OH-Proline |
| it-IT | Italian (Italy) | Metionina/Alloisoleucina+Isoleucina+Leucina+Idrossiprolina: Synonyms: Chimica Punto nel tempo (episodio) Rapporto di sostanza Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | methionine/allo-isoleucine + isoleucine + leucine + hydroxyproline: |
| pt-BR | Portuguese (Brazil) | Metionina/Aloisoleucina+Isoleucina+Leucina+Hidroxiprolina: Synonyms: Met; |
| ru-RU | Russian (Russian Federation) | Метионин/Аллоизолейцин+Изолейцин+Лейцин+Гидроксипролин: Synonyms: Количественный Кровь Кровь сухая капля Мольная доля; |
| tr-TR | Turkish (Turkey) | Metiyonin/Alloizolösin+İzolösin+Lösin+Hidroksiprolin: Synonyms: SubsOranı |
| zh-CN | Chinese (China) | 蛋氨酸/别异亮氨酸+异亮氨酸+亮氨酸+羟脯氨酸: Synonyms: Hyp; |
Example Units
| Unit | Source |
|---|---|
| {Ratio} | Example UCUM Units |
53156-6 Methionine/Phenylalanine [Molar ratio] in DBS
Term Description
Methionine/Phenylalanine is a primary marker for Homocystinuria, Hypermethioninemia, Methylene tetrahydrofolate reductase deficiency, Methylcobalamin deficiency and Homocystinuria-megaloblastic anemia. Secondary marker for Methylmalonic aciduria and homocystinuria.
Source: Regenstrief LOINC
Part Descriptions
LP15730-2 Methionine
Methionine is an essential nonpolar amino acid, and a lipotropic. Methionine and cysteine are the only sulfur-containing proteinogenic amino acids. The methionine derivative S-adenosyl methionine (SAM) serves as a methyl donor. Methionine plays a role in cysteine, carnitine and taurine synthesis by the transsulfuration pathway, lecithin production, the synthesis of phosphatidylcholine and other phospholipids. Improper conversion of methionine can lead to atherosclerosis. Methionine, a chelating agent, is one of only two amino acids encoded by a single codon (AUG) in the standard genetic code (tryptophan, encoded by UGG, is the other). The codon AUG is also significant, in that it carries the Start message for a ribosome to begin protein translation from mRNA. As a consequence, methionine is incorporated into the N-terminal position of all proteins in eukaryotes and archaea during translation, although it is usually removed by post-translational modification.
Copyright Text is available under the Creative Commons Attribution/Share-Alike License. See http://creativecommons.org/licenses/by-sa/3.0/ for details.
Source: Wikipedia, Methionine (Wikipedia)
LP70160-4 Phenylalanine
Phenylalanine is an essential alpha-amino acid. It exists in two forms, a D and an L form, which are enantiomers (mirror-image molecules) of each other. It has a benzyl side chain and its name comes from its chemical structures that consists of a phenyl group substituted for one of the hydrogens in the side chain of alanine. Because of its phenyl group, phenylalanine is an aromatic compound that at room temperature exists as a white, powdery solid. L -phenylalanine (LPA) is an electrically-neutral amino acid and its enantiomer, D -phenylalanine (DPA), can be synthesized artificially. L -phenylalanine can also be converted into L -tyrosine, another one of the twenty protein-forming amino acids.
Copyright Text is available under the Creative Commons Attribution/Share-Alike License. See http://creativecommons.org/licenses/by-sa/3.0/ for details.
Source: Wikipedia, Phenylalanine (Wikipedia)
Observation Required in Panel
Conditional
Type of Entry
Question expects user entry - requires response [Q]
Fully-Specified Name
- Component
- Methionine/Phenylalanine
- Property
- SRto
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- Methionine/Phe DBS-sRto
- Display Name
- Methionine/Phenylalanine (DBS) [Molar ratio]
- Consumer Name Alpha Get Info
- Methionine/Phenylalanine, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.24
- Last Updated
- Version 2.73
- Order vs. Observation
- Both
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 53261-4 | Amino acid newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| de-DE | German (Germany) | Methionin/Phenylalanin: |
| es-ES | Spanish (Spain) | Metionina/Fenilalanina: Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Metionina / Fenilalanina: |
| fr-CA | French (Canada) | Méthionine/Phénylalanine: |
| fr-FR | French (France) | Méthionine/phénylalanine: |
| fr-BE | French (Belgium) | Méthionine/Phénylalanine: |
| it-IT | Italian (Italy) | Metionina/Fenilalanina: Synonyms: Chimica Punto nel tempo (episodio) Rapporto di sostanza Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | methionine/fenylalanine: Synonyms: phenylalanine |
| pt-BR | Portuguese (Brazil) | Metionina/Fenilalanina: Synonyms: Met; |
| ru-RU | Russian (Russian Federation) | Метионин/Фенилаланин: Synonyms: Количественный Кровь Кровь сухая капля Мольная доля; |
| tr-TR | Turkish (Turkey) | Metiyonin/Fenilalanin: Synonyms: SubsOranı |
| zh-CN | Chinese (China) | 蛋氨酸/苯丙氨酸: Synonyms: Met; |
Example Units
| Unit | Source |
|---|---|
| {Ratio} | Example UCUM Units |
75215-4 Ornithine/Citrulline [Molar ratio] in DBS
Term Description
Ornithine/Citrulline is a marker for gyrate atrophy of the retina, ornithine transcarbamylase deficiency, carbamoyl-phosphate synthase deficiency, and hyperornithinemia-hyperammonemia-homocitrullinuria syndrome, which are all conditions that some states include on their newborn screening panel.
Source: Regenstrief LOINC
Part Descriptions
LP15753-4 Ornithine
Ornithine is an amino acid that, under the action of the enzyme arginase on L-arginine, yields urea. Therefore, ornithine is a central part of the urea cycle, which eliminates excess nitrogen. Ornithine is not an amino acid coded by DNA, and in that sense, it is not involved in protein synthesis. In mammalian non-hepatic tissues, however, the urea cycle is mainly involved in arginine biosynthesis, making ornithine an important metabolic process. It is not directly a product of the the genetic code because polypeptides containing unprotected ornithines undergo spontaneous lactamization. This proved to be a problem when ornithine was originally classified among the other 20 naturally occuring amino acids.
Copyright Text is available under the Creative Commons Attribution/Share-Alike License. See http://creativecommons.org/licenses/by-sa/3.0/ for details.
Source: Wikipedia, Ornithine (Wikipedia)
LP15753-4 Ornithine
An amino acid produced in the urea cycle when the enzyme arginase cleaves off urea from arginine.
Source: National Library of Medicine, MeSH 2006
LP70358-4 Citrulline
Citrulline is an alpha amino acid, produced from ornithine and carbamoyl phosphate during the urea cycle. Its name is derived from citrullus, the Latin word for watermelon, from which it was first isolated.
Copyright Text is available under the Creative Commons Attribution/Share-Alike License. See http://creativecommons.org/licenses/by-sa/3.0/ for details.
Source: Wikipedia, Citrulline (Wikipedia)
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Ornithine/Citrulline
- Property
- SRto
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- Ornithine/Cit DBS-sRto
- Display Name
- Ornithine/Citrulline (DBS) [Molar ratio]
- Consumer Name Alpha Get Info
- Ornithine/Citrulline, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.48
- Last Updated
- Version 2.73
- Order vs. Observation
- Both
- Common Test Rank Get Info
- 19291
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 53261-4 | Amino acid newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Ornitina/Citrulina: Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Ornitina / Citrulina: |
| fr-CA | French (Canada) | Ornithine/Citrulline: |
| fr-FR | French (France) | Ornithine/citrulline: |
| fr-BE | French (Belgium) | Ornithine/Citrulline: |
| it-IT | Italian (Italy) | Ornitina/Citrullina: Synonyms: Chimica Punto nel tempo (episodio) Rapporto di sostanza Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | ornithine/citrulline: |
| pt-BR | Portuguese (Brazil) | Ornitina/Citrulina: |
| ru-RU | Russian (Russian Federation) | Орнитин/Цитруллин: Synonyms: Количественный Кровь Кровь сухая капля Мольная доля; |
| tr-TR | Turkish (Turkey) | Ornitin/Sitrüllin: Synonyms: SubsOranı |
| zh-CN | Chinese (China) | 鸟氨酸/瓜氨酸: Synonyms: 2,5-二氨基戊酸; |
Example Units
| Unit | Source |
|---|---|
| {ratio} | Example UCUM Units |
29573-3 Phenylalanine [Moles/volume] in DBS
Part Descriptions
LP15792-2 Phenylalanine
Phenylalanine is an essential alpha-amino acid. It exists in two forms, a D and an L form, which are enantiomers (mirror-image molecules) of each other. It has a benzyl side chain and its name comes from its chemical structures that consists of a phenyl group substituted for one of the hydrogens in the side chain of alanine. Because of its phenyl group, phenylalanine is an aromatic compound that at room temperature exists as a white, powdery solid. L -phenylalanine (LPA) is an electrically-neutral amino acid and its enantiomer, D -phenylalanine (DPA), can be synthesized artificially. L -phenylalanine can also be converted into L -tyrosine, another one of the twenty protein-forming amino acids.
Copyright Text is available under the Creative Commons Attribution/Share-Alike License. See http://creativecommons.org/licenses/by-sa/3.0/ for details.
Source: Wikipedia, Phenylalanine (Wikipedia)
Observation Required in Panel
Conditional
Type of Entry
Question expects user entry - requires response [Q]
Fully-Specified Name
- Component
- Phenylalanine
- Property
- SCnc
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- Phe DBS-sCnc
- Display Name
- Phenylalanine (DBS) [Moles/Vol]
- Consumer Name Alpha Get Info
- Phenylalanine, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.03
- Last Updated
- Version 2.73
- Order vs. Observation
- Both
- Common Test Rank Get Info
- 4629
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 53261-4 | Amino acid newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
| 79621-9 | Phenylalanine and Tyrosine panel - DBS |
| 94573-3 | Tyrosinemia newborn screening follow-up and therapeutic monitoring panel - DBS |
Member of these Groups Get Info
| LOINC Group | Group Name |
|---|---|
| LG49958-8 | Phenylalanine| |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| de-AT | German (Austria) | Synonyms: Phenylalanin /Trockenblut |
| de-DE | German (Germany) | Phenylalanin: |
| es-ES | Spanish (Spain) | Fenilalanina: Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Fenilalanina: |
| es-AR | Spanish (Argentina) | fenilalanina: |
| et-EE | Estonian (Estonia) | Fenüülalaniin: Synonyms: Aine kontsentratsioon Juhuslik Kvantitatiivne Veri |
| fr-CA | French (Canada) | Phénylalanine: |
| fr-FR | French (France) | Phénylalanine: |
| fr-BE | French (Belgium) | Phénylalanine: |
| it-IT | Italian (Italy) | Fenilalanina: Synonyms: Chimica Concentrazione di Sostanza Punto nel tempo (episodio) Sangue Spot sangue secco |
| ko-KR | Korean (Korea, Republic Of) | 페닐알라닌: |
| nl-NL | Dutch (Netherlands) | fenylalanine: |
| pl-PL | Polish (Poland) | Fenyloalanina: |
| pt-BR | Portuguese (Brazil) | Fenilalanina: Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Фенилаланин: Synonyms: Количественный Кровь Кровь сухая капля Молярность; |
| tr-TR | Turkish (Turkey) | Fenilalanin: |
| uk-UA | Ukrainian (Ukraine) | Фенілаланін: Synonyms: Blood; |
| zh-CN | Chinese (China) | 苯丙氨酸: Synonyms: Phe; |
Example Units
| Unit | Source |
|---|---|
| umol/L | Example UCUM Units |
| mmol/L | eCHN |
35572-7 Phenylalanine/Tyrosine [Molar ratio] in DBS
Part Descriptions
LP15792-2 Phenylalanine
Phenylalanine is an essential alpha-amino acid. It exists in two forms, a D and an L form, which are enantiomers (mirror-image molecules) of each other. It has a benzyl side chain and its name comes from its chemical structures that consists of a phenyl group substituted for one of the hydrogens in the side chain of alanine. Because of its phenyl group, phenylalanine is an aromatic compound that at room temperature exists as a white, powdery solid. L -phenylalanine (LPA) is an electrically-neutral amino acid and its enantiomer, D -phenylalanine (DPA), can be synthesized artificially. L -phenylalanine can also be converted into L -tyrosine, another one of the twenty protein-forming amino acids.
Copyright Text is available under the Creative Commons Attribution/Share-Alike License. See http://creativecommons.org/licenses/by-sa/3.0/ for details.
Source: Wikipedia, Phenylalanine (Wikipedia)
LP32175-9 Tyrosine
Tyrosine (from the Greek tyros, meaning cheese, as it was first discovered in cheese[ citationneeded ]), 4-hydroxyphenylalanine, or 2-amino-3(4-hydroxyphenyl)-propanoic acid, is one of the 20 amino acids that are used by cells to synthesize proteins. It has a phenol side chain with a hydroxyl group. Upon the location of the hydroxyl group, there are three structural isomers of Tyr, namely para-Tyr (p-Tyr), meta-Tyr (m-Tyr) and ortho-Tyr (o-Tyr). Enzymatically, only the first isomer (p-Tyr) is produced from L-Phe by the Phe-hydroxylase enzyme. The other two isoforms, m-Tyr and o-Tyr can be produced as a consequence of free radical attack on Phe in states with increased oxidative stress.
Copyright Text is available under the Creative Commons Attribution/Share-Alike License. See http://creativecommons.org/licenses/by-sa/3.0/ for details.
Source: Wikipedia, Tyrosine (Wikipedia)
LP32175-9 Tyrosine
A non-essential amino acid. In animals it is synthesized from PHENYLALANINE. It is also the precursor of EPINEPHRINE; THYROID HORMONES; and melanin.
Source: National Library of Medicine, MeSH 2006
Observation Required in Panel
Conditional
Type of Entry
Question expects user entry - requires response [Q]
Fully-Specified Name
- Component
- Phenylalanine/Tyrosine
- Property
- SRto
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- Phe/Tyr DBS-sRto
- Display Name
- Phenylalanine/Tyrosine (DBS) [Molar ratio]
- Consumer Name Alpha Get Info
- Phenylalanine/Tyrosine, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.13
- Last Updated
- Version 2.73
- Order vs. Observation
- Observation
- Common Test Rank Get Info
- 3731
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 53261-4 | Amino acid newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Fenilalanina/Tirosina: Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Fenilalanina / Tirosina: |
| es-AR | Spanish (Argentina) | fenilalanina/tirosina: |
| fr-CA | French (Canada) | Phénylalanine/Tyrosine: |
| fr-FR | French (France) | Phénylalanine/tyrosine: |
| fr-BE | French (Belgium) | Phénylalanine/Tyrosine: |
| it-IT | Italian (Italy) | Fenilalanina/Tirosina: Synonyms: Chimica Punto nel tempo (episodio) Rapporto di sostanza Sangue Spot sangue secco |
| ko-KR | Korean (Korea, Republic Of) | 페닐알라닌/티로신: |
| nl-NL | Dutch (Netherlands) | fenylalanine/tyrosine: |
| pl-PL | Polish (Poland) | Fenyloalanina/tyrozyna: |
| pt-BR | Portuguese (Brazil) | Fenilalanina/Tirosina: Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Фенилаланин/Тирозин: Synonyms: Количественный Кровь Кровь сухая капля Мольная доля; |
| tr-TR | Turkish (Turkey) | Fenilalanin/Tirozin: Synonyms: SubsOranı |
| zh-CN | Chinese (China) | 苯丙氨酸/酪氨酸: Synonyms: 3-对羟苯基丙氨酸; |
Example Units
| Unit | Source |
|---|---|
| {Ratio} | Example UCUM Units |
47732-3 Proline [Moles/volume] in DBS
Part Descriptions
LP15818-5 Proline
L-Proline is one of the twenty proteinogenic units used in the building blocks of proteins. The other nineteen units are all primary amino acids, but due to the cyclic binding of the three-carbon side chain to the nitrogen of the backbone, proline lacks a primary amine group (ˆ'NH2). The nitrogen in proline is referred to as a secondary amine. Proline is sometimes called an amino acid, although the IUPAC definition of an amine requires a carbon-nitrogen double bond.
Copyright Text is available under the Creative Commons Attribution/Share-Alike License. See http://creativecommons.org/licenses/by-sa/3.0/ for details.
Source: Wikipedia, Proline (Wikipedia)
LP15818-5 Proline
Proline is an amino acid that is the cyclized form of glutamic acid. The hydroxylation of proline increases the stability of collagen and is critical for maintaining connective tissue. Increased with iminoglycinuria,Type I and II hyperprolinemia, and lysinuric protein intolerance.
Source: Regenstrief Institute
Observation Required in Panel
Conditional
Type of Entry
Question expects user entry - requires response [Q]
Fully-Specified Name
- Component
- Proline
- Property
- SCnc
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- Proline DBS-sCnc
- Display Name
- Proline (DBS) [Moles/Vol]
- Consumer Name Alpha Get Info
- Proline, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.21
- Last Updated
- Version 2.73
- Order vs. Observation
- Both
- Common Test Rank Get Info
- 19909
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 53261-4 | Amino acid newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| de-AT | German (Austria) | Synonyms: Prolin /Trockenblut |
| es-ES | Spanish (Spain) | Prolina: Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Prolina: |
| et-EE | Estonian (Estonia) | Proliin: Synonyms: Aine kontsentratsioon Juhuslik Kvantitatiivne Veri |
| fr-CA | French (Canada) | Proline: |
| fr-FR | French (France) | Proline: |
| fr-BE | French (Belgium) | Proline: |
| it-IT | Italian (Italy) | Prolina: Synonyms: Chimica Concentrazione di Sostanza Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | proline: |
| pt-BR | Portuguese (Brazil) | Prolina: Synonyms: Pro; |
| ru-RU | Russian (Russian Federation) | Пролин: Synonyms: Количественный Кровь Кровь сухая капля Молярность; |
| tr-TR | Turkish (Turkey) | Prolin: |
| zh-CN | Chinese (China) | 脯氨酸: Synonyms: Pro 克分子浓度; |
Example Units
| Unit | Source |
|---|---|
| umol/L | Example UCUM Units |
53392-7 Proline/Phenylalanine [Molar ratio] in DBS
Part Descriptions
LP15818-5 Proline
L-Proline is one of the twenty proteinogenic units used in the building blocks of proteins. The other nineteen units are all primary amino acids, but due to the cyclic binding of the three-carbon side chain to the nitrogen of the backbone, proline lacks a primary amine group (ˆ'NH2). The nitrogen in proline is referred to as a secondary amine. Proline is sometimes called an amino acid, although the IUPAC definition of an amine requires a carbon-nitrogen double bond.
Copyright Text is available under the Creative Commons Attribution/Share-Alike License. See http://creativecommons.org/licenses/by-sa/3.0/ for details.
Source: Wikipedia, Proline (Wikipedia)
LP15818-5 Proline
Proline is an amino acid that is the cyclized form of glutamic acid. The hydroxylation of proline increases the stability of collagen and is critical for maintaining connective tissue. Increased with iminoglycinuria,Type I and II hyperprolinemia, and lysinuric protein intolerance.
Source: Regenstrief Institute
LP70160-4 Phenylalanine
Phenylalanine is an essential alpha-amino acid. It exists in two forms, a D and an L form, which are enantiomers (mirror-image molecules) of each other. It has a benzyl side chain and its name comes from its chemical structures that consists of a phenyl group substituted for one of the hydrogens in the side chain of alanine. Because of its phenyl group, phenylalanine is an aromatic compound that at room temperature exists as a white, powdery solid. L -phenylalanine (LPA) is an electrically-neutral amino acid and its enantiomer, D -phenylalanine (DPA), can be synthesized artificially. L -phenylalanine can also be converted into L -tyrosine, another one of the twenty protein-forming amino acids.
Copyright Text is available under the Creative Commons Attribution/Share-Alike License. See http://creativecommons.org/licenses/by-sa/3.0/ for details.
Source: Wikipedia, Phenylalanine (Wikipedia)
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Proline/Phenylalanine
- Property
- SRto
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- Proline/Phe DBS-sRto
- Display Name
- Proline/Phenylalanine (DBS) [Molar ratio]
- Consumer Name Alpha Get Info
- Proline/Phenylalanine, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.24
- Last Updated
- Version 2.70
- Order vs. Observation
- Observation
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 53261-4 | Amino acid newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| de-DE | German (Germany) | Prolin/Phenylalanin: |
| es-ES | Spanish (Spain) | Prolina/Fenilalanina: Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Prolina / Fenilalanina: |
| fr-CA | French (Canada) | Proline/Phénylalanine: |
| fr-FR | French (France) | Proline/phénylalanine: |
| fr-BE | French (Belgium) | Proline/Phénylalanine: |
| it-IT | Italian (Italy) | Prolina/Fenilalanina: Synonyms: Chimica Punto nel tempo (episodio) Rapporto di sostanza Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | proline/fenylalanine: Synonyms: phenylalanine |
| pt-BR | Portuguese (Brazil) | Prolina/Fenilalanina: Synonyms: Pro; |
| ru-RU | Russian (Russian Federation) | Пролин/Фенилаланин: Synonyms: Количественный Кровь Кровь сухая капля Мольная доля; |
| tr-TR | Turkish (Turkey) | Prolin/Fenilalanin: Synonyms: SubsOranı |
| zh-CN | Chinese (China) | 脯氨酸/苯丙氨酸: Synonyms: Phe Phe; |
Example Units
| Unit | Source |
|---|---|
| {Ratio} | Example UCUM Units |
47742-2 Serine [Moles/volume] in DBS
Part Descriptions
LP15861-5 Serine
Serine, one of the 20 amino acids, is commonly found in animal proteins. Only the L-stereoisomer appears in nature. It is not essential to the human diet, because it can be synthesized from other metabolites, including glycine. Serine was first obtained from silk protein, a particularly rich source, in 1865. Its name is derived from the Latin for silk, sericum. Serine's structure was established in 1902.
Copyright Text is available under the Creative Commons Attribution/Share-Alike License. See http://creativecommons.org/licenses/by-sa/3.0/ for details.
Source: Wikipedia, Serine (Wikipedia)
LP15861-5 Serine
Serine is classified as an hydroxylic amino acid. Its levels in urine are elevated in hyperprolinemia, cystinosis, and Hartnup disease.
Source: Regenstrief Institute
Observation Required in Panel
Conditional
Type of Entry
Question expects user entry - requires response [Q]
Fully-Specified Name
- Component
- Serine
- Property
- SCnc
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- Serine DBS-sCnc
- Display Name
- Serine (DBS) [Moles/Vol]
- Consumer Name Alpha Get Info
- Serine, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.21
- Last Updated
- Version 2.70
- Order vs. Observation
- Both
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 53261-4 | Amino acid newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Serina: Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Serina: |
| et-EE | Estonian (Estonia) | Seriin: Synonyms: Aine kontsentratsioon Juhuslik Kvantitatiivne Veri |
| fr-CA | French (Canada) | Sérine: |
| fr-FR | French (France) | Sérine: |
| fr-BE | French (Belgium) | Sérine: |
| it-IT | Italian (Italy) | Serina: Synonyms: Chimica Concentrazione di Sostanza Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | serine: |
| pt-BR | Portuguese (Brazil) | Serina: Synonyms: Ser; |
| ru-RU | Russian (Russian Federation) | Серин: Synonyms: Количественный Кровь Кровь сухая капля Молярность; |
| tr-TR | Turkish (Turkey) | Serin: |
| zh-CN | Chinese (China) | 丝氨酸: Synonyms: Ser 克分子浓度; |
Example Units
| Unit | Source |
|---|---|
| umol/L | Example UCUM Units |
53231-7 Succinylacetone [Moles/volume] in DBS
Part Descriptions
LP15872-2 Succinylacetone
Succinylacetone is a primary marker for Tyrosinemia type I.
Source: Regenstrief LOINC
Observation Required in Panel
Conditional
Type of Entry
Question expects user entry - requires response [Q]
Fully-Specified Name
- Component
- Succinylacetone
- Property
- SCnc
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- Succinylacetone DBS-sCnc
- Display Name
- Succinylacetone (DBS) [Moles/Vol]
- Consumer Name Alpha Get Info
- Succinylacetone, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.24
- Last Updated
- Version 2.73
- Order vs. Observation
- Both
- Common Test Rank Get Info
- 17177
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 53261-4 | Amino acid newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
| 94573-3 | Tyrosinemia newborn screening follow-up and therapeutic monitoring panel - DBS |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Succinilacetona: Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Succinilacetona: |
| et-EE | Estonian (Estonia) | Suktsinüülatsetoon: Synonyms: Aine kontsentratsioon Juhuslik Kvantitatiivne Veri |
| fr-CA | French (Canada) | Succinylacétone: |
| fr-FR | French (France) | Succinylacétone: |
| fr-BE | French (Belgium) | Succinylacétone: |
| it-IT | Italian (Italy) | Succinilacetone: Synonyms: Chimica Concentrazione di Sostanza Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | succinylaceton: |
| pt-BR | Portuguese (Brazil) | Succinil acetona: Synonyms: SUAC; |
| ru-RU | Russian (Russian Federation) | Сукцинилацетон: Synonyms: Количественный Кровь Кровь сухая капля Молярность; |
| tr-TR | Turkish (Turkey) | Süksinilaseton: |
| zh-CN | Chinese (China) | 琥珀酰丙酮: Synonyms: SA 克分子浓度; |
Example Units
| Unit | Source |
|---|---|
| umol/L | Example UCUM Units |
47784-4 Threonine [Moles/volume] in DBS
Part Descriptions
LP15890-4 Threonine
Threonine, one of the 20 naturally occuring amino acids, is nutritionally essential in humans because they cannot synthesze it. Threonine contains two chiral centers, so there are four possible stereoisomers of threonine, or two possible diastereomers of L-threonine. However, the name L-threonine is used for one single enantiomer, (2 S ,3 R)-2-amino-3-hydroxybutanoic acid. The second diastereomer (2 S ,3 S), which is rarely present in nature, is called L-allo-threonine. The threonine side chain can undergo O-linked glycosylation. Threonine can become phosphorylated through the action of a threonine kinase. In its phosphorylated form, it is referred to as phosphothreonine. Foods high in threonine are cottage cheese, poultry, fish, meat, lentils, and sesame seeds. Threonine is a secondary marker for citrullinemia type II, an inherited disorder that causes ammonia and other toxic products to accumulate in the blood.
Copyright Text is available under the Creative Commons Attribution/Share-Alike License. See http://creativecommons.org/licenses/by-sa/3.0/ for details.
Source: Wikipedia, Threonine (Wikipedia)
LP15890-4 Threonine
An essential amino acid occurring naturally in the L-form, which is the active form. It is found in eggs, milk, gelatin, cottage cheese, poultry, fish, meat, lentils, sesame seeds and other proteins.
Source: National Library of Medicine, MeSH 2006
Observation Required in Panel
Conditional
Type of Entry
Question expects user entry - requires response [Q]
Fully-Specified Name
- Component
- Threonine
- Property
- SCnc
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- Threonine DBS-sCnc
- Display Name
- Threonine (DBS) [Moles/Vol]
- Consumer Name Alpha Get Info
- Threonine, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.21
- Last Updated
- Version 2.73
- Order vs. Observation
- Both
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 53261-4 | Amino acid newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Treonina: Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Treonina: |
| et-EE | Estonian (Estonia) | Treoniin: Synonyms: Aine kontsentratsioon Juhuslik Kvantitatiivne Veri |
| fr-CA | French (Canada) | Thréonine: |
| fr-FR | French (France) | Thréonine: |
| fr-BE | French (Belgium) | Thréonine: |
| it-IT | Italian (Italy) | Treonina: Synonyms: Chimica Concentrazione di Sostanza Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | threonine: |
| pt-BR | Portuguese (Brazil) | Treonina: Synonyms: Thr; |
| ru-RU | Russian (Russian Federation) | Треонин: Synonyms: Количественный Кровь Кровь сухая капля Молярность; |
| tr-TR | Turkish (Turkey) | Treonin: |
| zh-CN | Chinese (China) | 苏氨酸: Synonyms: Beta-羟丁氨酸; |
Example Units
| Unit | Source |
|---|---|
| umol/L | Example UCUM Units |
53159-0 Tryptophan [Moles/volume] in DBS
Part Descriptions
LP15931-6 Tryptophan
Tryptophan is an amino acid and essential in human nutrition. It is one of the 20 amino acids in the genetic code (codon UGG). Only the L-stereoisomer appears in mammalian protein, however the D-stereoisomer is occasionally found in natural materials (for example, the marine venom peptide contryphan).
Copyright Text is available under the Creative Commons Attribution/Share-Alike License. See http://creativecommons.org/licenses/by-sa/3.0/ for details.
Source: Wikipedia, Tryptophan (Wikipedia)
LP15931-6 Tryptophan
An essential amino acid that is necessary for normal growth in infants and for NITROGEN balance in adults. It is a precursor of INDOLE ALKALOIDS in plants. It is a precursor of SEROTONIN (hence its use as an antidepressant and sleep aid). It can be a precursor to NIACIN, albeit inefficiently, in mammals.
Source: National Library of Medicine, MeSH 2006
LP15931-6 Tryptophan
Tryptophoan (or L-tryptophan) is an amino acid, a protein building block that can be found in many plant and animal proteins. L-tryptophan is called an "essential" amino acid because the body can't make it. It must be acquired from food. L-tryptophan is used for insomnia, sleep apnea, depression, anxiety, facial pain, a severe form of premenstrual syndrome called premenstrual dysphoric disorder (PMDD), smoking cessation, grinding teeth during sleep (bruxism), attention deficit-hyperactivity disorder (ADHD), Tourette's syndrome, and to improve athletic performance. L-tryptophan is naturally found in animal and plant proteins. L-tryptophan is considered an essential amino acid because our bodies can't make it. It is important for the development and functioning of many organs in the body. After absorbing L-tryptophan from food, our bodies convert it to 5-HTP (5-hyrdoxytryptophan), and then to serotonin. Serotonin is a hormone that transmits signals between nerve cells. It also causes blood vessels to narrow. Changes in the level of serotonin in the brain can alter mood.
Source: Medline Plus, MedlinePlus: L-tryptophan
Observation Required in Panel
Conditional
Type of Entry
Question expects user entry - requires response [Q]
Fully-Specified Name
- Component
- Tryptophan
- Property
- SCnc
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- Tryptophan DBS-sCnc
- Display Name
- Tryptophan (DBS) [Moles/Vol]
- Consumer Name Alpha Get Info
- Tryptophan, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.24
- Last Updated
- Version 2.73
- Order vs. Observation
- Both
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 53261-4 | Amino acid newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Triptófano: Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Triptófano: |
| et-EE | Estonian (Estonia) | Trüptopfaan: Synonyms: Aine kontsentratsioon Juhuslik Kvantitatiivne Veri |
| fr-CA | French (Canada) | Tryptophane: |
| fr-FR | French (France) | Tryptophane: |
| fr-BE | French (Belgium) | Tryptophane: |
| it-IT | Italian (Italy) | Triptofano: Synonyms: Chimica Concentrazione di Sostanza Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | tryptofaan: |
| pt-BR | Portuguese (Brazil) | Triptofano: Synonyms: c244; |
| ru-RU | Russian (Russian Federation) | Триптофан: Synonyms: Количественный Кровь Кровь сухая капля Молярность; |
| tr-TR | Turkish (Turkey) | Triptofan: |
| zh-CN | Chinese (China) | 色氨酸: Synonyms: B 吲哚基丙氨酸; |
Example Units
| Unit | Source |
|---|---|
| umol/L | Example UCUM Units |
35571-9 Tyrosine [Moles/volume] in DBS
Part Descriptions
LP15793-0 Tyrosine
Tyrosine is an aromatic amino acid and its urine levels rise in tyrosinemia, TNT (Transient Neonatal Tyrosinemia), cystinosis, hartnup disease, methionine malabsorption, and alkaptonuria.
Source: Regenstrief Institute
Observation Required in Panel
Conditional
Type of Entry
Question expects user entry - requires response [Q]
Fully-Specified Name
- Component
- Tyrosine
- Property
- SCnc
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- Tyrosine DBS-sCnc
- Display Name
- Tyrosine (DBS) [Moles/Vol]
- Consumer Name Alpha Get Info
- Tyrosine, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.13
- Last Updated
- Version 2.73
- Order vs. Observation
- Both
- Common Test Rank Get Info
- 4630
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 53261-4 | Amino acid newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
| 79621-9 | Phenylalanine and Tyrosine panel - DBS |
| 94573-3 | Tyrosinemia newborn screening follow-up and therapeutic monitoring panel - DBS |
Member of these Groups Get Info
| LOINC Group | Group Name |
|---|---|
| LG49975-2 | Tyrosine| |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| de-AT | German (Austria) | Synonyms: Tyrosin /Trockenblut |
| de-DE | German (Germany) | Tyrosin: |
| es-ES | Spanish (Spain) | Tirosina: Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Tirosina: |
| es-AR | Spanish (Argentina) | cristales de tirosina: |
| et-EE | Estonian (Estonia) | Türosiin: Synonyms: Aine kontsentratsioon Juhuslik Kvantitatiivne Veri |
| fr-CA | French (Canada) | Tyrosine: |
| fr-FR | French (France) | Tyrosine: |
| fr-BE | French (Belgium) | Tyrosine: |
| it-IT | Italian (Italy) | Tirosina: Synonyms: Chimica Concentrazione di Sostanza Punto nel tempo (episodio) Sangue Spot sangue secco |
| ko-KR | Korean (Korea, Republic Of) | 티로신: |
| nl-NL | Dutch (Netherlands) | tyrosine: |
| pt-BR | Portuguese (Brazil) | Tirosina: Synonyms: Tyr; |
| ru-RU | Russian (Russian Federation) | Тирозин: Synonyms: Количественный Кровь Кровь сухая капля Молярность; |
| tr-TR | Turkish (Turkey) | Tirozin: |
| uk-UA | Ukrainian (Ukraine) | Тирозин: Synonyms: Blood; |
| zh-CN | Chinese (China) | 酪氨酸: Synonyms: 3-对羟苯基丙氨酸; |
Example Units
| Unit | Source |
|---|---|
| umol/L | Example UCUM Units |
| mcmol/L | REGENSTRIEF |
47799-2 Valine [Moles/volume] in DBS
Part Descriptions
LP15946-4 Valine
Valine, one of the 20 proteinogenic amino acids, is nutritionally essential. It is named after the plant valerian. Foods that are good sources of valine include cottage cheese, fish, poultry, peanuts, sesame seeds, and lentils. In sickle cell disease, the replacement of an A by T in the beta chain gene of hemoglobin changes the codon GAG (for glutamic acid) to GTG (which encodes valine). Thus valine, a hydrophic amnio acid, replaces glutamic acid, a hydrophilic amino acid, causing hemoglobin to not fold correctly. It is also a precursor in the penicillin biosynthetic pathway.
Copyright Text is available under the Creative Commons Attribution/Share-Alike License. See http://creativecommons.org/licenses/by-sa/3.0/ for details.
Source: Wikipedia, Valine (Wikipedia)
LP15946-4 Valine
A branched-chain essential amino acid that stimulates activity and promotes muscle growth and tissue repair. It is a precursor in the penicillin biosynthetic pathway.
Source: National Library of Medicine, MeSH 2006
LP15946-4 Valine
Valine is a branched-chain amino acid that stimulates activity and promotes muscle growth and tissue repair. It is elevated in branched-chain ketoaciduria (maple syrup urine disease), along with leucine, isoleucine, and alloisoleucine.
Source: Regenstrief Institute
Observation Required in Panel
Conditional
Type of Entry
Question expects user entry - requires response [Q]
Fully-Specified Name
- Component
- Valine
- Property
- SCnc
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- Valine DBS-sCnc
- Display Name
- Valine (DBS) [Moles/Vol]
- Consumer Name Alpha Get Info
- Valine, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.21
- Last Updated
- Version 2.73
- Order vs. Observation
- Both
- Common Test Rank Get Info
- 16392
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 53261-4 | Amino acid newborn screen panel |
| 94571-7 | Branched chain amino acid panel - DBS |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| de-AT | German (Austria) | Synonyms: Valin /Trockenblut |
| es-ES | Spanish (Spain) | Valina: Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Valina: |
| et-EE | Estonian (Estonia) | Valiin: Synonyms: Aine kontsentratsioon Juhuslik Kvantitatiivne Veri |
| fr-CA | French (Canada) | Valine: |
| fr-FR | French (France) | Valine: |
| fr-BE | French (Belgium) | Valine: |
| it-IT | Italian (Italy) | Valina: Synonyms: Chimica Concentrazione di Sostanza Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | valine: |
| pt-BR | Portuguese (Brazil) | Valina: Synonyms: Val; |
| ru-RU | Russian (Russian Federation) | Валин: Synonyms: Количественный Кровь Кровь сухая капля Молярность; |
| tr-TR | Turkish (Turkey) | Valin: |
| uk-UA | Ukrainian (Ukraine) | Валін: Synonyms: Blood; |
| zh-CN | Chinese (China) | 缬氨酸: Synonyms: Alpha-氨基异戊酸; |
Example Units
| Unit | Source |
|---|---|
| umol/L | Example UCUM Units |
53151-7 Valine/Phenylalanine [Molar ratio] in DBS
Term Description
Valine/Phenylalanine is a primary marker for Maple syrup urine disease and Valinemia.
Source: Regenstrief LOINC
Part Descriptions
LP15946-4 Valine
Valine, one of the 20 proteinogenic amino acids, is nutritionally essential. It is named after the plant valerian. Foods that are good sources of valine include cottage cheese, fish, poultry, peanuts, sesame seeds, and lentils. In sickle cell disease, the replacement of an A by T in the beta chain gene of hemoglobin changes the codon GAG (for glutamic acid) to GTG (which encodes valine). Thus valine, a hydrophic amnio acid, replaces glutamic acid, a hydrophilic amino acid, causing hemoglobin to not fold correctly. It is also a precursor in the penicillin biosynthetic pathway.
Copyright Text is available under the Creative Commons Attribution/Share-Alike License. See http://creativecommons.org/licenses/by-sa/3.0/ for details.
Source: Wikipedia, Valine (Wikipedia)
LP15946-4 Valine
A branched-chain essential amino acid that stimulates activity and promotes muscle growth and tissue repair. It is a precursor in the penicillin biosynthetic pathway.
Source: National Library of Medicine, MeSH 2006
LP15946-4 Valine
Valine is a branched-chain amino acid that stimulates activity and promotes muscle growth and tissue repair. It is elevated in branched-chain ketoaciduria (maple syrup urine disease), along with leucine, isoleucine, and alloisoleucine.
Source: Regenstrief Institute
LP70160-4 Phenylalanine
Phenylalanine is an essential alpha-amino acid. It exists in two forms, a D and an L form, which are enantiomers (mirror-image molecules) of each other. It has a benzyl side chain and its name comes from its chemical structures that consists of a phenyl group substituted for one of the hydrogens in the side chain of alanine. Because of its phenyl group, phenylalanine is an aromatic compound that at room temperature exists as a white, powdery solid. L -phenylalanine (LPA) is an electrically-neutral amino acid and its enantiomer, D -phenylalanine (DPA), can be synthesized artificially. L -phenylalanine can also be converted into L -tyrosine, another one of the twenty protein-forming amino acids.
Copyright Text is available under the Creative Commons Attribution/Share-Alike License. See http://creativecommons.org/licenses/by-sa/3.0/ for details.
Source: Wikipedia, Phenylalanine (Wikipedia)
Observation Required in Panel
Conditional
Type of Entry
Question expects user entry - requires response [Q]
Fully-Specified Name
- Component
- Valine/Phenylalanine
- Property
- SRto
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- Valine/Phe DBS-sRto
- Display Name
- Valine/Phenylalanine (DBS) [Molar ratio]
- Consumer Name Alpha Get Info
- Valine/Phenylalanine, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.24
- Last Updated
- Version 2.73
- Order vs. Observation
- Both
- Common Test Rank Get Info
- 18115
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 53261-4 | Amino acid newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| de-DE | German (Germany) | Valin/Phenylalanin: |
| es-ES | Spanish (Spain) | Valina/Fenilalanina: Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Valina / Fenilalanina: |
| fr-CA | French (Canada) | Valine/Phénylalanine: |
| fr-FR | French (France) | Valine/phénylalanine: |
| fr-BE | French (Belgium) | Valine/Phénylalanine: |
| it-IT | Italian (Italy) | Valina/Fenilalanina: Synonyms: Chimica Punto nel tempo (episodio) Rapporto di sostanza Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | valine/fenylalanine: Synonyms: phenylalanine |
| pt-BR | Portuguese (Brazil) | Valina/Fenilalanina: Synonyms: Val; |
| ru-RU | Russian (Russian Federation) | Валин/Фенилаланин: Synonyms: Количественный Кровь Кровь сухая капля Мольная доля; |
| tr-TR | Turkish (Turkey) | Valin/Fenilalanin: Synonyms: SubsOranı |
| zh-CN | Chinese (China) | 缬氨酸/苯丙氨酸: Synonyms: Alpha-氨基异戊酸; |
Example Units
| Unit | Source |
|---|---|
| {Ratio} | Example UCUM Units |
58092-8 Acylcarnitine newborn screen panel
Term Description
Newborn screening dried blood spot analysis by tandem mass spectrometry (MS/MS) requires pre-processing the specimen with one of two alternative reagent methods referred to as derivatized and non-derivatized (or underivatized) methods. The methods are similar and nearly all analytes and ratios are identical with the limited number of exceptions noted in the description of the LOINC codes. Some labs choose to use the non-derivatized method because it may be faster or less expensive for their operations. There are no analytes which would be interpreted differently based on the method used to process the specimen so there is no need for different LOINC codes for the same compounds based on the reagents. In a few cases, a different LOINC code is used for the derivatized or non-derivatized tandem mass spectrometry (MS/MS) method because based on the reagents used in processing, different analytes are measured or different sets of analytes become isobaric, which means that they cannot be distinguished on the MS/MS because they have the same molecular weight after reagent processing.
Source: Regenstrief LOINC
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Acylcarnitine newborn screen panel
- Property
- -
- Time
- Pt
- System
- Bld.dot
- Scale
- -
- Method
Additional Names
- Short Name
- Acylcarnitine NBS pnl DBS
- Display Name
- Acylcarnitine NBS panel (DBS)
- Consumer Name Alpha Get Info
- Acylcarnitine NBS Panel, Dried blood spot
Basic Attributes
- Class
- PANEL.CHEM
- Type
- Laboratory
- First Released
- Version 2.29
- Last Updated
- Version 2.77
- Order vs. Observation
- Order
- Common Test Rank Get Info
- 16130
- Panel Type
- Panel
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Panel de cribado neonatal de acilcarnitina: |
| es-MX | Spanish (Mexico) | Panel de pantalla para recién nacidos de acilcarnitina: |
| et-EE | Estonian (Estonia) | Atsüülkarnitiini sõeluuring vastsündinul: Synonyms: Juhuslik Veri |
| fr-FR | French (France) | Acylcarnitine dépistage néonatal panel: |
| fr-BE | French (Belgium) | Panel screening néonatal acylcarnitine: |
| it-IT | Italian (Italy) | Acilcarnitina, panel screening neonatale: Synonyms: Chimica Panel screening neonatale acilcarnitina Punto nel tempo (episodio) Sangue Set di prescrizione chimica Spot sangue secco |
| nl-NL | Dutch (Netherlands) | acylcarnitine pasgeborene screening panel: |
| pt-BR | Portuguese (Brazil) | Acilcarnitina triagem neonatal painel: Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Ацилкарнитин новорождённый скрин панель: Synonyms: Кровь Кровь сухая капля Точка во времени; |
| zh-CN | Chinese (China) | 酰基肉碱新生儿筛查组套: Synonyms: 全血斑点(滤纸); |
58088-6 Acylcarnitine newborn screen interpretation
Term Description
Acylcarnitine concentration measured in blood dot (Filter Paper) as part of newborn screen. It detects Fatty Acid Oxidation and Organic Acidemia Disorders.
Source: Regenstrief Institute
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Acylcarnitine
- Property
- Imp
- Time
- Pt
- System
- Bld.dot
- Scale
- Nar
- Method
Additional Names
- Short Name
- Acylcarnitine DBS-Imp
- Display Name
- Acylcarnitine Nar (DBS) [Interp]
- Consumer Name Alpha Get Info
- Interpretation of Acylcarnitine test result, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.29
- Last Updated
- Version 2.73
- Change Reason
- Changed answer list from "Normative" to "Preferred" to fit the current LOINC model.
- Order vs. Observation
- Observation
- Common Test Rank Get Info
- 17693
Preferred Answer List LL840-0
| Answer | Code | Score | Answer ID |
|---|---|---|---|
| In range | LA18592-8 | ||
| Borderline | LA4259-3 | ||
| Indeterminate Copyright http://snomed.info/sct ID:82334004 Indeterminate (qualifier value) | LA11884-6 | ||
| Out of range | LA18593-6 | ||
| Out of range requiring further dried blood spot testing for at least one condition | LA12430-7 | ||
| Out of range requiring immediate referral | LA25817-0 | ||
| Out of range requiring immediate second-tier testing for at least one condition | LA12431-5 | ||
| Out of range requiring deferred follow-up for at least one condition | LA18594-4 | ||
| One or more tests pending | LA16204-2 | ||
| Specimen unsatisfactory for at least one condition | LA16205-9 |
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 58092-8 | Acylcarnitine newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Acilcarnitina: |
| es-MX | Spanish (Mexico) | Acilcarnitina: |
| fr-CA | French (Canada) | Acylcarnitine: |
| fr-FR | French (France) | Acylcarnitine: |
| fr-BE | French (Belgium) | Acylcarnitine: |
| it-IT | Italian (Italy) | Acilcarnitina: Synonyms: Chimica Impressione/interpretazione di studio Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | acylcarnitine: |
| pt-BR | Portuguese (Brazil) | Acilcarnitina: Synonyms: Acylcarni; |
| ru-RU | Russian (Russian Federation) | Ацилкарнитин: Synonyms: Впечатление/интерпретация исследования Кровь Кровь сухая капля Описательный Точка во времени; |
| tr-TR | Turkish (Turkey) | Açilkarnitin: |
| zh-CN | Chinese (China) | 酰基肉碱: Synonyms: 全血斑点(滤纸); |
Third Party Copyright
This material includes SNOMED Clinical Terms® (SNOMED CT®) which is used by permission of the International Health Terminology Standards Development Organisation (IHTSDO) under license. All rights reserved. SNOMED CT® was originally created by The College of American Pathologists. "SNOMED" and "SNOMED CT" are registered trademarks of the IHTSDO.
This material includes content from the US Edition to SNOMED CT, which is developed and maintained by the U.S. National Library of Medicine and is available to authorized UMLS Metathesaurus Licensees from the UTS Downloads site at https://uts.nlm.nih.gov.
Use of SNOMED CT content is subject to the terms and conditions set forth in the SNOMED CT Affiliate License Agreement. It is the responsibility of those implementing this product to ensure they are appropriately licensed and for more information on the license, including how to register as an Affiliate Licensee, please refer to http://www.snomed.org/snomed-ct/get-snomed-ct or info@snomed.org<mailto:info@snomed.org>. This may incur a fee in SNOMED International non-Member countries.
58093-6 Acylcarnitine newborn screening comment-discussion
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Acylcarnitine newborn screening comment-discussion
- Property
- Txt
- Time
- Pt
- System
- Bld.dot
- Scale
- Nar
- Method
Additional Names
- Short Name
- Acylcarnitine NBS comment
- Display Name
- Acylcarnitine newborn screening comment-discussion Nar (DBS)
- Consumer Name Alpha Get Info
- Acylcarnitine newborn screening comment-discussion, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.29
- Last Updated
- Version 2.73
- Order vs. Observation
- Observation
- Common Test Rank Get Info
- 18419
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 58092-8 | Acylcarnitine newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Acilcarnitina screnning de recién nacidos comentario-discusión: |
| es-MX | Spanish (Mexico) | Comentario-discusión sobre el cribado neonatal de acilcarnitina: |
| fr-FR | French (France) | Acylcarnitine dépistage néonatal (commentaire/discussion): |
| fr-BE | French (Belgium) | Acylcarnitine Commentaires.screening néonatal.discussion: |
| it-IT | Italian (Italy) | Acilcarnitina, screening neonatale, commenti-discussione: Synonyms: Chimica Commento/discussione di screening neonatale acilcarnitina Punto nel tempo (episodio) Sangue Spot sangue secco Testo |
| nl-NL | Dutch (Netherlands) | acylcarnitine screening van pasgeborene commentaar-discussie: |
| pt-BR | Portuguese (Brazil) | Acilcarnitina triagem neonatal comentários-discussão: Synonyms: Remarks; |
| ru-RU | Russian (Russian Federation) | Ацилкарнитин новорожденный скрининг комментарий-дискуссия: Synonyms: Кровь Кровь сухая капля Описательный Текст Точка во времени; |
| tr-TR | Turkish (Turkey) | Açilkarnitin yenidoğan tarama öneri-tartışma: |
| zh-CN | Chinese (China) | 酰基肉碱 新生儿筛查注释-讨论: Synonyms: Asympt SCN 全血斑点(滤纸); |
57084-6 Fatty acid oxidation newborn screen panel
Term Description
Newborn screening dried blood spot analysis by tandem mass spectrometry (MS/MS) requires pre-processing the specimen with one of two alternative reagent methods referred to as derivatized and non-derivatized (or underivatized) methods. The methods are similar and nearly all analytes and ratios are identical with the limited number of exceptions noted in the description of the LOINC codes. Some labs choose to use the non-derivatized method because it may be faster or less expensive for their operations. There are no analytes which would be interpreted differently based on the method used to process the specimen so there is no need for different LOINC codes for the same compounds based on the reagents. In a few cases, a different LOINC code is used for the derivatized or non-derivatized tandem mass spectrometry (MS/MS) method because based on the reagents used in processing, different analytes are measured or different sets of analytes become isobaric, which means that they cannot be distinguished on the MS/MS because they have the same molecular weight after reagent processing.
Source: Regenstrief LOINC
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Fatty acid oxidation newborn screen panel
- Property
- -
- Time
- Pt
- System
- Bld.dot
- Scale
- -
- Method
Additional Names
- Short Name
- FA oxidation NB scn pnl DBS
- Display Name
- Fatty acid oxidation NBS panel (DBS)
- Consumer Name Alpha Get Info
- Fatty Acid Oxidation NBS Panel, Dried blood spot
Basic Attributes
- Class
- PANEL.CHEM
- Type
- Laboratory
- First Released
- Version 2.29
- Last Updated
- Version 2.77
- Order vs. Observation
- Order
- Common Test Rank Get Info
- 17172
- Panel Type
- Panel
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 58092-8 | Acylcarnitine newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Panel de cribado de la oxidación de ácidos grasos en el recién nacido: |
| es-MX | Spanish (Mexico) | Panel de pantalla recién nacido de oxidación de ácidos grasos: |
| et-EE | Estonian (Estonia) | Rasvhapete oksüdatsioonidefektis sõeluuring vastsündinul: Synonyms: Juhuslik Veri |
| fr-FR | French (France) | Oxydation des acides gras dépistage néonatal panel: |
| fr-BE | French (Belgium) | Panel screening nouveau-né oxidation des acides gras: |
| it-IT | Italian (Italy) | Acidi grassi, panel di screening neonatale per ossidazione: Synonyms: Chimica Ossidazione degli acidi grassi Panel screening neonatale per ossidazione degli ac Punto nel tempo (episodio) Sangue Set di prescrizione chimica Spot sangue secco |
| nl-NL | Dutch (Netherlands) | vetzuuroxidatie pasgeborene screening panel: |
| pl-PL | Polish (Poland) | Panel przesiewowy noworodka utleniania kwasów tłuszczowych: |
| pt-BR | Portuguese (Brazil) | Oxidação de ácidos graxos painel da tela de recém-nascido: Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Жирные кислоты окисление новорождённый скрин панель: Synonyms: Кровь Кровь сухая капля Точка во времени; |
| zh-CN | Chinese (China) | 脂肪酸氧化新生儿筛查组套: Synonyms: FAO 全血斑点(滤纸); |
46736-5 Fatty acid oxidation defects newborn screen interpretation
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Fatty acid oxidation defects
- Property
- Imp
- Time
- Pt
- System
- Bld.dot
- Scale
- Nom
- Method
Additional Names
- Short Name
- FOD DBS-Imp
- Display Name
- Fatty acid oxidation defects (DBS) [Interp]
- Consumer Name Alpha Get Info
- Fatty acid oxidation defects, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.19
- Last Updated
- Version 2.73
- Change Reason
- Changed answer list from "Normative" to "Preferred" to fit the current LOINC model.
- Order vs. Observation
- Observation
- Common Test Rank Get Info
- 1323
Preferred Answer List LL840-0
| Answer | Code | Score | Answer ID |
|---|---|---|---|
| In range | LA18592-8 | ||
| Borderline | LA4259-3 | ||
| Indeterminate Copyright http://snomed.info/sct ID:82334004 Indeterminate (qualifier value) | LA11884-6 | ||
| Out of range | LA18593-6 | ||
| Out of range requiring further dried blood spot testing for at least one condition | LA12430-7 | ||
| Out of range requiring immediate referral | LA25817-0 | ||
| Out of range requiring immediate second-tier testing for at least one condition | LA12431-5 | ||
| Out of range requiring deferred follow-up for at least one condition | LA18594-4 | ||
| One or more tests pending | LA16204-2 | ||
| Specimen unsatisfactory for at least one condition | LA16205-9 |
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 58092-8 | Acylcarnitine newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Defectos de la oxidación de ácidos grasos: |
| es-MX | Spanish (Mexico) | Defectos de oxidación de ácidos grasos: |
| fr-CA | French (Canada) | Défauts de l'oxydation des acides gras: |
| fr-FR | French (France) | Oxydation des acides gras déficit: |
| fr-BE | French (Belgium) | Défauts de l'oxydation des acides gras: |
| it-IT | Italian (Italy) | Acidi grassi, difetti di ossidazione: Synonyms: Chimica Difetti di ossidazione degli acidi grassi Impressione/interpretazione di studio Ossidazione degli acidi grassi Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | vetzuuroxidatiedefecten: |
| pt-BR | Portuguese (Brazil) | Defeitos de oxidação de ácidos graxos: Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Жирных кислот окисления дефекты: Synonyms: Впечатление/интерпретация исследования Кровь Кровь сухая капля Номинальный; |
| tr-TR | Turkish (Turkey) | Yağ asidi oksidasyonu kusurları: |
| zh-CN | Chinese (China) | 脂肪酸氧化过程缺陷: Synonyms: FAO FAODS; |
Third Party Copyright
This material includes SNOMED Clinical Terms® (SNOMED CT®) which is used by permission of the International Health Terminology Standards Development Organisation (IHTSDO) under license. All rights reserved. SNOMED CT® was originally created by The College of American Pathologists. "SNOMED" and "SNOMED CT" are registered trademarks of the IHTSDO.
This material includes content from the US Edition to SNOMED CT, which is developed and maintained by the U.S. National Library of Medicine and is available to authorized UMLS Metathesaurus Licensees from the UTS Downloads site at https://uts.nlm.nih.gov.
Use of SNOMED CT content is subject to the terms and conditions set forth in the SNOMED CT Affiliate License Agreement. It is the responsibility of those implementing this product to ensure they are appropriately licensed and for more information on the license, including how to register as an Affiliate Licensee, please refer to http://www.snomed.org/snomed-ct/get-snomed-ct or info@snomed.org<mailto:info@snomed.org>. This may incur a fee in SNOMED International non-Member countries.
57792-4 Fatty acid oxidation conditions suspected [Identifier] in DBS
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Fatty acid oxidation conditions suspected
- Property
- Prid
- Time
- Pt
- System
- Bld.dot
- Scale
- Nom
- Method
Additional Names
- Short Name
- FA oxidation conditions suspected DBS
- Display Name
- Fatty acid oxidation conditions suspected Nom (DBS)
- Consumer Name Alpha Get Info
- Fatty acid oxidation conditions suspected, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.29
- Last Updated
- Version 2.61
- Change Reason
- Changed answer list from "Normative" to "Preferred" to fit the current LOINC model.
- Order vs. Observation
- Observation
Preferred Answer List LL838-4
| Answer | Code | Score | Answer ID |
|---|---|---|---|
| None Copyright http://snomed.info/sct ID:260413007 None (qualifier value) | LA137-2 | ||
| Carnitine palmitoyltransferase type I deficiency Copyright http://snomed.info/sct ID:238001003 Carnitine palmitoyltransferase I deficiency (disorder) | LA12485-1 | ||
| Carnitine uptake deficiency/carnitine transport defect Copyright http://snomed.info/sct ID:21764004 Renal carnitine transport defect (disorder) | LA12487-7 | ||
| CPT-II or CACT | LA12573-4 | ||
| LCHAD or TFP | LA12574-2 | ||
| Medium-chain acyl-CoA dehydrogenase deficiency Copyright http://snomed.info/sct ID:128596003 Medium-chain acyl-coenzyme A dehydrogenase deficiency (disorder) | LA12509-8 | ||
| MCAD or SCAD or GA-2(MADD) | LA12575-9 | ||
| SCAD or EMA or IBG or GA-2 (MADD) | LA12576-7 | ||
| Very long-chain acyl-CoA dehydrogenase deficiency Copyright http://snomed.info/sct ID:237997005 Very long chain acyl-coenzyme A dehydrogenase deficiency (disorder) | LA12531-2 | ||
| 2,4-Dienoyl-CoA reductase deficiency Copyright http://snomed.info/sct ID:444944006 Deficiency of 2,4-dienoyl-coenzyme A reductase (disorder) | LA12489-3 | ||
| Carnitine acylcarnitine translocase deficiency Copyright http://snomed.info/sct ID:238003000 Carnitine acylcarnitine translocase deficiency (disorder) | LA12475-2 | ||
| Carnitine palmitoyltransferase type II deficiency Copyright http://snomed.info/sct ID:238002005 Carnitine palmitoyltransferase II deficiency (disorder) | LA12486-9 | ||
| Glutaric acidemia type II Copyright http://snomed.info/sct ID:22886006 Glutaric aciduria, type 2 (disorder) | LA12495-0 | ||
| Long-chain L-3 hydroxyacyl-CoA dehydrogenase deficiency Copyright http://snomed.info/sct ID:307127004 Isolated long chain hydroxyacyl-CoA dehydrogenase deficiency (disorder) | LA12507-2 | ||
| Carnitine uptake deficiency/carnitine transport defect (maternal) Copyright http://snomed.info/sct ID:206001006 Fetal or neonatal effect of maternal problem unrelated to pregnancy (disorder) | LA12488-5 | ||
| Medium-chain ketoacyl-CoA thiolase deficiency Copyright http://snomed.info/sct ID:124265004 Deficiency of acetyl-coenzyme A acyltransferase (disorder) | LA12511-4 | ||
| Short-chain acyl-CoA dehydrogenase deficiency Copyright http://snomed.info/sct ID:124166007 Deficiency of butyryl-CoA dehydrogenase (disorder) | SCAD | LA12524-7 | |
| Short-chain L-3-hydroxy acyl-CoA dehydrogenase deficiency Copyright http://snomed.info/sct ID:237998000 Short chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency (disorder) | LA12525-4 | ||
| Trifunctional protein deficiency Copyright http://snomed.info/sct ID:237999008 Mitochondrial trifunctional protein deficiency (disorder) | LA12527-0 | ||
| CUD or CUD (mat) or CPT-Ia | LA12916-5 | ||
| GA-1 or GA-2 | LA12917-3 | ||
| X-linked adrenoleukodystrophy Copyright http://snomed.info/sct ID:65389002 Adrenoleukodystrophy (disorder) | LA25796-6 |
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 58092-8 | Acylcarnitine newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Condiciones de oxidación de ácidos grasos: |
| es-MX | Spanish (Mexico) | Sospecha de condiciones de oxidación de ácidos grasos: |
| fr-FR | French (France) | Oxydation des acides gras conditions suspectées: |
| fr-BE | French (Belgium) | Conditions suspectes d'oxydation des acides gras: |
| it-IT | Italian (Italy) | Acidi grassi, condizioni sospette di ossidazione: Synonyms: Chimica Condizioni sospette di ossidazione degli acidi gra Ossidazione degli acidi grassi Presenza o Identità Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | vetzuuroxidatie omstandigheden vermoed: |
| pl-PL | Polish (Poland) | Badanie statusu utlenienie kwasów tłuszczowych: |
| pt-BR | Portuguese (Brazil) | Condições suspeitas de oxidação de ácidos graxos: Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Жирная кислота окисление состояние заподозрены: Synonyms: Кровь Кровь сухая капля Номинальный; |
| tr-TR | Turkish (Turkey) | Yağ asidi oksidasyonu koşulları şüphelenilen: |
| zh-CN | Chinese (China) | 疑似脂肪酸氧化障碍: Synonyms: FAO 全血斑点(滤纸); |
Third Party Copyright
This material includes SNOMED Clinical Terms® (SNOMED CT®) which is used by permission of the International Health Terminology Standards Development Organisation (IHTSDO) under license. All rights reserved. SNOMED CT® was originally created by The College of American Pathologists. "SNOMED" and "SNOMED CT" are registered trademarks of the IHTSDO.
This material includes content from the US Edition to SNOMED CT, which is developed and maintained by the U.S. National Library of Medicine and is available to authorized UMLS Metathesaurus Licensees from the UTS Downloads site at https://uts.nlm.nih.gov.
Use of SNOMED CT content is subject to the terms and conditions set forth in the SNOMED CT Affiliate License Agreement. It is the responsibility of those implementing this product to ensure they are appropriately licensed and for more information on the license, including how to register as an Affiliate Licensee, please refer to http://www.snomed.org/snomed-ct/get-snomed-ct or info@snomed.org<mailto:info@snomed.org>. This may incur a fee in SNOMED International non-Member countries.
57709-8 Fatty acid oxidation defects newborn screening comment-discussion
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Fatty acid oxidation defects newborn screening comment-discussion
- Property
- Txt
- Time
- Pt
- System
- Bld.dot
- Scale
- Nar
- Method
Additional Names
- Short Name
- FOD NBS comment
- Display Name
- Fatty acid oxidation defects newborn screening comment-discussion Nar (DBS)
- Consumer Name Alpha Get Info
- Fatty acid oxidation defects newborn screening comment-discussion, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.29
- Last Updated
- Version 2.42
- Order vs. Observation
- Observation
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 58092-8 | Acylcarnitine newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Defectos de la oxidación de ácidos grasos screnning de recién nacidos comentario-discusión: |
| es-MX | Spanish (Mexico) | Defectos de oxidación de ácidos grasos cribado neonatal comentario-discusión: |
| fr-FR | French (France) | Oxydation des acides gras déficit dépistage néonatal: |
| fr-BE | French (Belgium) | Défauts de l'oxydation des acides gras Commentaires.screening néonatal.discussion: |
| it-IT | Italian (Italy) | Acidi grassi, difetti di ossidazione, screening neonatale, commenti-discussione: Synonyms: Chimica Commento/discussione di screening neonatale per difetti di ossidazione degli acidi grassi Difetti di ossidazione degli acidi grassi Ossidazione degli acidi grassi Punto nel tempo (episodio) Sangue Spot sangue secco Testo |
| nl-NL | Dutch (Netherlands) | vetzuuroxidatiedefecten screening van pasgeborene commentaar-discussie: |
| pl-PL | Polish (Poland) | Zaburzenia utleniania kwasów tłuszczowych komentarz-dyskusja nad badaniami przesiewowymi noworodka: |
| pt-BR | Portuguese (Brazil) | Defeitos de oxidação de ácidos graxos na triagem neonatal comentários-discussão: Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Жирных кислот окисления дефекты новорожденный скрининг комментарий-дискуссия: Synonyms: Кровь Кровь сухая капля Описательный Текст Точка во времени; |
| tr-TR | Turkish (Turkey) | Yağ asidi oksidasyonu kusurları yenidoğan tarama öneri-tartışma: |
| zh-CN | Chinese (China) | 脂肪酸氧化过程缺陷 新生儿筛查注释-讨论: Synonyms: Asympt FAO FAODS; |
38481-8 Carnitine free (C0) [Moles/volume] in DBS
Part Descriptions
LP18431-4 Carnitine.free (C0)
Carnitine.free is a primary marker for carnitine uptake defect, propionic acidemia, maternal carnitine uptake defect, carnitine palmitoyltransferase I deficiency and primary lactic acidemia (various types). It is also a secondary marker for maternal glutaric acidemia type I.
Source: Regenstrief LOINC
Observation Required in Panel
Conditional
Type of Entry
Question expects user entry - requires response [Q]
Fully-Specified Name
- Component
- Carnitine.free (C0)
- Property
- SCnc
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- Carnitine Free DBS-sCnc
- Display Name
- C0 (DBS) [Moles/Vol]
- Consumer Name Alpha Get Info
- C0, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.14
- Last Updated
- Version 2.73
- Order vs. Observation
- Both
- Common Test Rank Get Info
- 19326
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 58092-8 | Acylcarnitine newborn screen panel |
| 79284-6 | Carnitine biosynthesis intermediates panel - DBS |
| 53262-2 | Carnitine newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Carnitina libre: Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Carnitina libre (C0): |
| es-AR | Spanish (Argentina) | carnitina.libre: |
| et-EE | Estonian (Estonia) | Karnitiin.vaba (C0): Synonyms: Aine kontsentratsioon Juhuslik Kvantitatiivne Veri |
| fr-CA | French (Canada) | Carnitine.libre (C0): |
| fr-FR | French (France) | Carnitine libre (C0): |
| fr-BE | French (Belgium) | Carnitine.libre (C0): |
| it-IT | Italian (Italy) | Carnitina.libera (C0): Synonyms: Carnitina libera (C0) Chimica Concentrazione di Sostanza Punto nel tempo (episodio) Sangue Spot sangue secco |
| ko-KR | Korean (Korea, Republic Of) | 유리카르니틴: |
| nl-NL | Dutch (Netherlands) | carnitine.vrij (C0): |
| pt-BR | Portuguese (Brazil) | Carnitina.livre (C0): Synonyms: Substance concentration; |
| ru-RU | Russian (Russian Federation) | Карнитин.свободный(С0): Synonyms: Количественный Кровь Кровь сухая капля Молярность; |
| tr-TR | Turkish (Turkey) | Karnitin.serb (C0): |
| zh-CN | Chinese (China) | 肉碱.游离型 (C0): Synonyms: 克分子浓度; |
Example Units
| Unit | Source |
|---|---|
| umol/L | Example UCUM Units |
| mcmol/L | REGENSTRIEF |
53233-3 Carnitine free (C0)/Palmitoylcarnitine (C16) [Molar ratio] in DBS
Term Description
Carnitine.free/Palmitoylcarnitine is a secondary marker for Carnitine acylcarnitine translocase deficiency.
Source: Regenstrief LOINC
Part Descriptions
LP18431-4 Carnitine.free (C0)
Carnitine.free is a primary marker for carnitine uptake defect, propionic acidemia, maternal carnitine uptake defect, carnitine palmitoyltransferase I deficiency and primary lactic acidemia (various types). It is also a secondary marker for maternal glutaric acidemia type I.
Source: Regenstrief LOINC
LP70162-0 Palmitoylcarnitine (C16)
Palmitoylcarnitine is a primary marker for Very long-chain acyl-CoA dehydrogenase deficiency, Long-chain L-3-Hydroxy dehydrogenase deficiency, Trifunctional protein deficiency, Carnitine palmitoyltransferase I deficiency, Carnitine acylcarnitine translocase deficiency, and Carnitine palmitoyltransferase II deficiency. Secondary marker for Carnitine uptake defect.
Source: Regenstrief LOINC
Observation Required in Panel
Conditional
Type of Entry
Question expects user entry - requires response [Q]
Fully-Specified Name
- Component
- Carnitine.free (C0)/Palmitoylcarnitine (C16)
- Property
- SRto
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- Carnitine Free/C16 DBS-sRto
- Display Name
- C0/Palmitoylcarnitine (C16) (DBS) [Molar ratio]
- Consumer Name Alpha Get Info
- C0/Palmitoylcarnitine (C16), Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.24
- Last Updated
- Version 2.61
- Order vs. Observation
- Both
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 58092-8 | Acylcarnitine newborn screen panel |
| 53262-2 | Carnitine newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Carnitina libre/Palmitoilcarnitina (C16): Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Carnitine.libre (C0) / Palmitoylcarnitine (C16): |
| fr-CA | French (Canada) | Carnitine.libre (C0)/Palmitoylcarnitine (C16): |
| fr-FR | French (France) | Carnitine libre (C0)/palmitoylcarnitine (C16): |
| fr-BE | French (Belgium) | Carnitine.libre (C0)/Palmitoylcarnitine (C16): |
| it-IT | Italian (Italy) | Carnitina.libera (C0)/Palmitoilcarnitina (C16): Synonyms: Carnitina libera (C0) Chimica Punto nel tempo (episodio) Rapporto di sostanza Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | carnitine.vrij (C0)/palmitoylcarnitine (C16): |
| pt-BR | Portuguese (Brazil) | Carnitina.livre (C0)/Palmitoilcarnitina (C16): Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Карнитин.свободный(С0)/Пальмитоилкарнитин (C16): Synonyms: Количественный Кровь Кровь сухая капля Мольная доля; |
| tr-TR | Turkish (Turkey) | Karnitin.serb (C0)/Palmitoilkarnitin (C16): Synonyms: SubsOranı |
| zh-CN | Chinese (China) | 肉碱.游离型 (C0)/棕榈酰肉碱 (C16): Synonyms: 全血斑点(滤纸); |
Example Units
| Unit | Source |
|---|---|
| {Ratio} | Example UCUM Units |
53234-1 Carnitine free (C0)/Stearoylcarnitine (C18) [Molar ratio] in DBS
Term Description
Carnitine.free/Stearoylcarnitine is a secondary marker for Carnitine acylcarnitine translocase deficiency.
Source: Regenstrief LOINC
Part Descriptions
LP18431-4 Carnitine.free (C0)
Carnitine.free is a primary marker for carnitine uptake defect, propionic acidemia, maternal carnitine uptake defect, carnitine palmitoyltransferase I deficiency and primary lactic acidemia (various types). It is also a secondary marker for maternal glutaric acidemia type I.
Source: Regenstrief LOINC
LP70197-6 Stearoylcarnitine (C18)
Stearoylcarnitine is a primary marker for Carnitine palmitoyltransferase I deficiency, Carnitine acylcarnitine translocase deficiency, and Carnitine palmitoyltransferase II deficiency. Secondary marker for Long-chain L-3-Hydroxy dehydrogenase deficiency, Trifunctional protein deficiency, and Carnitine uptake defect.
Source: Regenstrief LOINC
Observation Required in Panel
Conditional
Type of Entry
Question expects user entry - requires response [Q]
Fully-Specified Name
- Component
- Carnitine.free (C0)/Stearoylcarnitine (C18)
- Property
- SRto
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- Carnitine Free/C18 DBS-sRto
- Display Name
- C0/Stearoylcarnitine (C18) (DBS) [Molar ratio]
- Consumer Name Alpha Get Info
- C0/Stearoylcarnitine (C18), Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.24
- Last Updated
- Version 2.61
- Order vs. Observation
- Both
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 58092-8 | Acylcarnitine newborn screen panel |
| 53262-2 | Carnitine newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Carnitina libre/Estearoilcarnitina (C18): Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Carnitine.libre (C0) / Estearoilcarnitina (C18): |
| fr-CA | French (Canada) | Carnitine.libre (C0)/Stéaroylcarnitine (C18): |
| fr-FR | French (France) | Carnitine libre (C0)/stéaroylcarnitine(C18): |
| fr-BE | French (Belgium) | Carnitine.libre (C0)/Stéaroylcarnitine (C18): |
| it-IT | Italian (Italy) | Carnitina.libera (C0)/Stearoilcarnitina (C18): Synonyms: Carnitina libera (C0) Chimica Punto nel tempo (episodio) Rapporto di sostanza Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | carnitine.vrij (C0)/stearoylcarnitine (C18): |
| pt-BR | Portuguese (Brazil) | Carnitina.livre (C0)/Estearoilcarnitina (C18): Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Карнитин.свободный(С0)/Стеароилкарнитин (C18): Synonyms: Количественный Кровь Кровь сухая капля Мольная доля; |
| tr-TR | Turkish (Turkey) | Karnitin.serb (C0)/Stearoilkarnitin (C18): Synonyms: SubsOranı |
| zh-CN | Chinese (China) | 肉碱.游离型 (C0)/硬脂酰肉碱 (C18): Synonyms: 全血斑点(滤纸); |
Example Units
| Unit | Source |
|---|---|
| {Ratio} | Example UCUM Units |
53235-8 Carnitine free (C0)/Palmitoylcarnitine (C16)+Stearoylcarnitine (C18) [Molar ratio] in DBS
Term Description
Carnitine.free/Palmityolcarnitine+Stearoylcarnitine is a primary marker for Carnitine palmitoyltransferase I deficiency. Secondary marker for Carnitine acylcarnitine translocase deficiency and Carnitine palmitoyltransferase II deficiency.
Source: Regenstrief LOINC
Part Descriptions
LP18431-4 Carnitine.free (C0)
Carnitine.free is a primary marker for carnitine uptake defect, propionic acidemia, maternal carnitine uptake defect, carnitine palmitoyltransferase I deficiency and primary lactic acidemia (various types). It is also a secondary marker for maternal glutaric acidemia type I.
Source: Regenstrief LOINC
Observation Required in Panel
Conditional
Type of Entry
Question expects user entry - requires response [Q]
Fully-Specified Name
- Component
- Carnitine.free (C0)/Palmitoylcarnitine (C16)+Stearoylcarnitine (C18)
- Property
- SRto
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- Carnitine Free/C16+C18 DBS-sRto
- Display Name
- C0/Palmitoylcarnitine (C16)+Stearoylcarnitine (C18) (DBS) [Molar ratio]
- Consumer Name Alpha Get Info
- C0/Palmitoylcarnitine (C16)+Stearoylcarnitine (C18), Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.24
- Last Updated
- Version 2.73
- Order vs. Observation
- Both
- Common Test Rank Get Info
- 19307
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 58092-8 | Acylcarnitine newborn screen panel |
| 53262-2 | Carnitine newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Carnitina libre/Palmitoilcarnitina (C16)+Estearoilcarnitina (C18): Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Carnitina libre (C0) / Palmitoilcarnitina (C16) + Estearoilcarnitina (C18): |
| fr-CA | French (Canada) | Carnitine.libre (C0)/Palmitoylcarnitine (C16)+Stéaroylcarnitine (C18): |
| fr-FR | French (France) | Carnitine libre (C0)/palmitoylcarnitine (C16)+stéaroylcarnitine(C18): |
| fr-BE | French (Belgium) | Carnitine.libre (C0)/Palmitoylcarnitine (C16)+Stearoylcarnitine (C18): |
| it-IT | Italian (Italy) | Carnitina.libera (C0)/Palmitoilcarnitina (C16)+Stearoilcarnitina (C18): Synonyms: Carnitina libera (C0) Chimica Punto nel tempo (episodio) Rapporto di sostanza Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | carnitine.vrij (C0)/palmitoylcarnitine (C16) + stearoylcarnitine (C18): |
| pt-BR | Portuguese (Brazil) | Carnitina.livre (C0)/Palmitoilcarnitina (C16)+Estearoilcarnitina (C18): Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Карнитин.свободный(С0)/Пальмитоилкарнитин (C16)+Стеароилкарнитин (C18): Synonyms: Количественный Кровь Кровь сухая капля Мольная доля; |
| tr-TR | Turkish (Turkey) | Karnitin.serb (C0)/Palmitoilkarnitin (C16)+Stearoilkarnitin (C18): Synonyms: SubsOranı |
| zh-CN | Chinese (China) | 肉碱.游离型 (C0)/棕榈酰肉碱 (C16)+硬脂酰肉碱 (C18): Synonyms: 全血斑点(滤纸); |
Example Units
| Unit | Source |
|---|---|
| {Ratio} | Example UCUM Units |
53236-6 Carnitine.free (C0)+Acetylcarnitine (C2)+Propionylcarnitine (C3)+Palmitoylcarnitine (C16)+Oleoylcarnitine (C18:1)+Stearoylcarnitine (C18)/Citrulline [Molar ratio] in DBS
Term Description
Carnitine.free+Acetylcarnitine+Propionylcarnitine+Palmitoylcarnitine+Oleoylcarnitine+Stearoylcarnitine/Citrulline is a primary marker for Carnitine uptake defect, Maternal carnitine uptake defect. Secondary marker for Maternal glutaric acidemia type I and Maternal 3-Methylcrotonyl-CoA carboxylase deficiency.
Source: Regenstrief LOINC
Part Descriptions
LP70358-4 Citrulline
Citrulline is an alpha amino acid, produced from ornithine and carbamoyl phosphate during the urea cycle. Its name is derived from citrullus, the Latin word for watermelon, from which it was first isolated.
Copyright Text is available under the Creative Commons Attribution/Share-Alike License. See http://creativecommons.org/licenses/by-sa/3.0/ for details.
Source: Wikipedia, Citrulline (Wikipedia)
Observation Required in Panel
Conditional
Type of Entry
Question expects user entry - requires response [Q]
Fully-Specified Name
- Component
- Carnitine.free (C0)+Acetylcarnitine (C2)+Propionylcarnitine (C3)+Palmitoylcarnitine (C16)+Oleoylcarnitine (C18:1)+Stearoylcarnitine (C18)/Citrulline
- Property
- SRto
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- C0+C2+C3+C16+C18/Cit DBS-sRto
- Display Name
- C0+C2+C3+C16+C18:1+C18/Citrulline (DBS) [Molar ratio]
- Consumer Name Alpha Get Info
- C0+C2+C3+C16+C18:1+C18/Citrulline, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.24
- Last Updated
- Version 2.73
- Order vs. Observation
- Both
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 58092-8 | Acylcarnitine newborn screen panel |
| 53262-2 | Carnitine newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Carnitina.libre (C0)+Acetilcarnitina (C2)+Propionilcarnitina (C3)+Palmitoilcarnitina (C16)+Oleoilcarnitina (C18: Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Carnitina libre (C0) + Acetilcarnitina (C2) + Propionilcarnitina (C3) + Palmitoilcarnitina (C16) + Oleoilcarnitina (C18: |
| fr-CA | French (Canada) | Carnitine.libre (C0)+Acylcarnitine (C2)+Propionylcarnitine (C3)+Palmitoylcarnitine (C16)+Oléoylcarnitine (C18: |
| fr-FR | French (France) | Carnitine libre(C0)+acétylcarnitine(C2)+propionylcarnitine(C3)+palmitoylcarnitine(C16)+oléoylcarnitine(C18: |
| fr-BE | French (Belgium) | Carnitine.free (C0)+Acetylcarnitine (C2)+Propionylcarnitine (C3)+Palmitoylcarnitine (C16)+Oleoylcarnitine (C18: |
| it-IT | Italian (Italy) | Carnitina.libera (C0)+Acetilcarnitina (C2)+Propionilcarnitina (C3)+Palmitoilcarnitina (C16)+Oleoilcarnitina (C18: Synonyms: Carnitina libera (C0) Chimica Punto nel tempo (episodio) Rapporto di sostanza Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | carnitine.vrij (C0) + acetylcarnitine (C2) + propionylcarnitine (C3) + palmitoylcarnitine (C16) + oleoylcarnitine (C18: |
| pt-BR | Portuguese (Brazil) | Carnitina.livre (C0)+Acetilcarnitina (C2)+Propionilcarnitina (C3)+Palmitoilcarnitina (C16)+Oleoilcarnitina (C18: Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Карнитин.свободный (C0)+Ацетилкарнитин (C2)+Пропионилкарнитин (C3)+Пальмитоилкарнитин (C16)+Олеоилкарнитин (C18: Synonyms: Количественный Кровь Кровь сухая капля Мольная доля; |
| tr-TR | Turkish (Turkey) | Karnitin.serb (C0)+Asetilkarnitin (C2)+Propiyonilkarnitin (C3)+Palmitoilkarnitin (C16)+Oleoilkarnitin (C18: Synonyms: SubsOranı |
| zh-CN | Chinese (China) | 肉碱.游离型 (C0)+酰基肉碱 (C2)+丙酰肉碱 (C3)+棕榈酰肉碱 (C16)+油酰肉碱 (C18: Synonyms: Ⅰ Citr I 丙酰肉碱（肉毒碱、 |
Example Units
| Unit | Source |
|---|---|
| {Ratio} | Example UCUM Units |
75211-3 Propionylcarnitine (C3)+Palmitoylcarnitine (C16) [Moles/volume] in DBS
Part Descriptions
LP183637-0 Propionylcarnitine (C3)+Palmitoylcarnitine (C16)
C3 (Propionylcarnitine)+C16 (Palmitoylcarnitine) is a marker for carnitine uptake defect, which is one of the core conditions on the HHS Secretary's Recommended Uniform Screening Panel for newborn screening.
Source: Newborn screening workgroup
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Propionylcarnitine (C3)+Palmitoylcarnitine (C16)
- Property
- SCnc
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- C3+C16 DBS-sCnc
- Display Name
- C3+C16 (DBS) [Moles/Vol]
- Consumer Name Alpha Get Info
- C3+C16, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.48
- Last Updated
- Version 2.73
- Order vs. Observation
- Both
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 58092-8 | Acylcarnitine newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Propionilcarnitina (C3)+Palmitoilcarnitina (C16): Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Propionilcarnitina (C3) + Palmitoilcarnitina (C16): |
| fr-FR | French (France) | Propionylcarnitine (C3)+palmitoylcarnitine (C16): |
| it-IT | Italian (Italy) | Propionilcarnitina (C3)+Palmitoilcarnitina (C16): Synonyms: Chimica Concentrazione di Sostanza Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | propionylcarnitine (C3) + palmitoylcarnitine (C16): |
| pt-BR | Portuguese (Brazil) | Propionilcarnitina (C3)+Palmitoilcarnitina (C16): |
| ru-RU | Russian (Russian Federation) | Пропионилкарнитин (C3)+Пальмитоилкарнитин (C16): Synonyms: Количественный Кровь Кровь сухая капля Молярность; |
| tr-TR | Turkish (Turkey) | Propionilcarnitine (C3)+Palmitoilcarnitine (C16): |
| zh-CN | Chinese (China) | 丙酰肉碱 (C3)+棕榈酰肉碱 (C16): Synonyms: 丙酰肉碱（肉毒碱、 |
Example Units
| Unit | Source |
|---|---|
| umol/L | Example UCUM Units |
75212-1 Malonylcarnitine (C3-DC)/Decanoylcarnitine (C10) [Molar ratio] in DBS
Term Description
C3DC (Malonylcarnitine)/C10 (Decanoylcarnitine) is a marker for malonic acidemia (also known as malonic aciduria), which is one of the secondary conditions on the HHS Secretary's Recommended Uniform Screening Panel for newborn screening.
Source: Regenstrief LOINC
Part Descriptions
LP70167-9 Decanoylcarnitine (C10)
Decanoylcarnitine is a primary marker for Medium-chain acyl-CoA dehydrogenase deficiency and Glutaric acidemia type II. Secondary marker for Medium-chain ketoacyl-CoA thiolase deficiency.
Source: Regenstrief LOINC
LP70363-4 Malonylcarnitine (C3-DC)
Malonylcarnitine is a metabolite that accumulates with specific disruption of fatty-acid oxidation caused by impaired entry of long-chain acylcarnitine esters into the mitochondria and failure of the mitochondrial respiratory chain at complex 11 and malonyl-CoA decarboxylase (EC 4.1.1.9) deficiency [OMIM: 248360]. Malonylcarnitine has also been found to accumulate in some newborns with medium-chain acyl-CoA dehydrogenase (EC 1.3.99.3) deficiency [OMIM: 201450], PMID: 11558490, PMID: 15303003, PMID: 12651823.
Copyright Copyright ©2005-2009 Genome Alberta (Reference to original publication: Wishart DS, Knox C, Guo AC, et al. HMDB: a knowledgebase for the human metabolome. Nucleic Acids Res. 2009 37(Database issue):D603-610.)
Source: Human Metabolome Database, Malonylcarnitine
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Malonylcarnitine (C3-DC)/Decanoylcarnitine (C10)
- Property
- SRto
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- Malonylcarn/C10 DBS-sRto
- Display Name
- C3-DC/Decanoylcarnitine (C10) (DBS) [Molar ratio]
- Consumer Name Alpha Get Info
- C3-DC/Decanoylcarnitine (C10), Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.48
- Last Updated
- Version 2.73
- Order vs. Observation
- Both
- Common Test Rank Get Info
- 18573
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 58092-8 | Acylcarnitine newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Malonilcarnitina (C3-DC)/Decanoilcarnitina (C10): Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Malonilcarnitina (C3-DC) / Decanoilcarnitina (C10): |
| fr-CA | French (Canada) | Malonylcarnitine (C3-DC)/Décanoylcarnitine (C10): |
| fr-FR | French (France) | Malonylcarnitine (C3-DC)/décanoylcarnitine (C10): |
| fr-BE | French (Belgium) | Malonylcarnitine (C3-DC)/Décanoylcarnitine (C10): |
| it-IT | Italian (Italy) | Malonilcarnitina (C3-DC)/Decanoilcarnitina (C10): Synonyms: Chimica Punto nel tempo (episodio) Rapporto di sostanza Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | malonylcarnitine (C3-DC)/decanoylcarnitine (C10): |
| pt-BR | Portuguese (Brazil) | Malonilcarnitina (C3-DC)/Decanoilcarnitina (C10): |
| ru-RU | Russian (Russian Federation) | Малонилкарнитин (C3-DC)/Деканоилкарнитин (C10): Synonyms: Количественный Кровь Кровь сухая капля Мольная доля; |
| tr-TR | Turkish (Turkey) | Malonilkarnitin (C3-DC)/Dekanoilkarnitin (C10): Synonyms: SubsOranı |
| zh-CN | Chinese (China) | 丙二酰肉碱 (C3-DC)/癸酰肉碱 (C10): Synonyms: 丙二酰肉碱（肉毒碱、 |
Example Units
| Unit | Source |
|---|---|
| {ratio} | Example UCUM Units |
54462-7 Malonylcarnitine (C3-DC) [Moles/volume] in DBS
Part Descriptions
LP70363-4 Malonylcarnitine (C3-DC)
Malonylcarnitine is a metabolite that accumulates with specific disruption of fatty-acid oxidation caused by impaired entry of long-chain acylcarnitine esters into the mitochondria and failure of the mitochondrial respiratory chain at complex 11 and malonyl-CoA decarboxylase (EC 4.1.1.9) deficiency [OMIM: 248360]. Malonylcarnitine has also been found to accumulate in some newborns with medium-chain acyl-CoA dehydrogenase (EC 1.3.99.3) deficiency [OMIM: 201450], PMID: 11558490, PMID: 15303003, PMID: 12651823.
Copyright Copyright ©2005-2009 Genome Alberta (Reference to original publication: Wishart DS, Knox C, Guo AC, et al. HMDB: a knowledgebase for the human metabolome. Nucleic Acids Res. 2009 37(Database issue):D603-610.)
Source: Human Metabolome Database, Malonylcarnitine
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Malonylcarnitine (C3-DC)
- Property
- SCnc
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- Malonylcarn DBS-sCnc
- Display Name
- C3-DC (DBS) [Moles/Vol]
- Consumer Name Alpha Get Info
- C3-DC, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.27
- Last Updated
- Version 2.70
- Order vs. Observation
- Both
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 58092-8 | Acylcarnitine newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Malonilcarnitina (C3-DC): Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Malonilcarnitina (C3-DC): |
| et-EE | Estonian (Estonia) | Malonüülkarnitiin (C3-DC): Synonyms: Aine kontsentratsioon Juhuslik Kvantitatiivne Veri |
| fr-CA | French (Canada) | Malonylcarnitine (C3-DC): |
| fr-FR | French (France) | Malonylcarnitine (C3-DC): |
| fr-BE | French (Belgium) | Malonylcarnitine (C3-DC): |
| it-IT | Italian (Italy) | Malonilcarnitina (C3-DC): Synonyms: Chimica Concentrazione di Sostanza Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | malonylcarnitine (C3-DC): |
| pt-BR | Portuguese (Brazil) | Malonilcarnitina (C3-DC): Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Малонилкарнитин (C3-DC): Synonyms: Количественный Кровь Кровь сухая капля Молярность; |
| tr-TR | Turkish (Turkey) | Malonilkarnitin (C3-DC): |
| zh-CN | Chinese (China) | 丙二酰肉碱 (C3-DC): Synonyms: 丙二酰肉碱（肉毒碱、 |
Example Units
| Unit | Source |
|---|---|
| umol/L | Example UCUM Units |
75213-9 Malonylcarnitine (C3-DC)+3-Hydroxybutyrylcarnitine (C4-OH)/Decanoylcarnitine (C10) [Molar ratio] in DBS
Term Description
C3DC (Malonylcarnitine)+C4OH (3-Hydroxybutyrylcarnitine)/C10 (Decanoylcarnitine) is a marker for malonic acidemia (also known as malonic aciduria), which is one of the secondary conditions on the HHS Secretary's Recommended Uniform Screening Panel for newborn screening.
Source: Regenstrief LOINC
Part Descriptions
LP70167-9 Decanoylcarnitine (C10)
Decanoylcarnitine is a primary marker for Medium-chain acyl-CoA dehydrogenase deficiency and Glutaric acidemia type II. Secondary marker for Medium-chain ketoacyl-CoA thiolase deficiency.
Source: Regenstrief LOINC
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Malonylcarnitine (C3-DC)+3-Hydroxybutyrylcarnitine (C4-OH)/Decanoylcarnitine (C10)
- Property
- SRto
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- Malonyl+3OHbutyrylcarn/C10 DBS-sRto
- Display Name
- C3-DC+C4-OH/Decanoylcarnitine (C10) (DBS) [Molar ratio]
- Consumer Name Alpha Get Info
- C3-DC+C4-OH/Decanoylcarnitine (C10), Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.48
- Last Updated
- Version 2.61
- Order vs. Observation
- Both
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 58092-8 | Acylcarnitine newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Malonilcarnitina (C3-DC)+3-hidroxibutirilcarnitina (C4-OH)/Decanoilcarnitina (C10): Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Malonilcarnitina (C3-DC) + 3-Hidroxibutirilcarnitina (C4-OH) / Decanoilcarnitina (C10): |
| fr-CA | French (Canada) | Malonylcarnitine (C3-DC)+3-hydroxybutyrylcarnitine (C4-OH)/Décanoylcarnitine (C10): |
| fr-FR | French (France) | Malonylcarnitine (C3-DC)+3-hydroxybutyrylcarnitine (C4-OH)/décanoylcarnitine (C10): |
| it-IT | Italian (Italy) | Malonilcarnitina (C3-DC)+3-Idrossibutirilcarnitina (C4-OH)/Decanoilcarnitina (C10): Synonyms: Chimica Punto nel tempo (episodio) Rapporto di sostanza Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | malonylcarnitine (C3-DC) + 3-hydroxybutyrylcarnitine (C4-OH)/decanoylcarnitine (C10): |
| pt-BR | Portuguese (Brazil) | Malonilcarnitina (C3-DC)+3-Hidroxibutirilcarnitina (C4-OH)/Decanoilcarnitina (C10): |
| ru-RU | Russian (Russian Federation) | Малонилкарнитин (C3-DC)+3-Гидроксибутирилкарнитин (C4-OH)/Деканоилкарнитин (C10): Synonyms: Количественный Кровь Кровь сухая капля Мольная доля; |
| tr-TR | Turkish (Turkey) | Malonilkarnitin (C3-DC)+3-Hidroksibütirilkarnitin (C4-OH)/Dekanoilkarnitin (C10): Synonyms: SubsOranı |
| zh-CN | Chinese (China) | 丙二酰肉碱 (C3-DC)+3-羟基异丁酰肉碱 (C4-OH)/癸酰肉碱 (C10): Synonyms: 3-羟基丁酰肉碱（肉毒碱、 |
Example Units
| Unit | Source |
|---|---|
| {ratio} | Example UCUM Units |
50157-7 Acetylcarnitine (C2) [Moles/volume] in DBS
Part Descriptions
LP19301-8 Acetylcarnitine (C2)
An acetic acid ester of CARNITINE that facilitates movement of ACETYL COA into the matrices of mammalian MITOCHONDRIA during the oxidation of FATTY ACIDS.
Source: National Library of Medicine, MeSH 2006
LP19301-8 Acetylcarnitine (C2)
Acetylcarnitine is a primary marker for Carnitine uptake defect. Secondary marker for Short-chain L-3-hydroxy acyl-CoA dehydrogenase deficiency, Maternal carnitine uptake defect, Maternal 3-Methylcrotonyl-CoA carboxylase deficiency, Formiminoglutamic acidemia, and Succinyl-CoA ligase deficiency.
Source: Regenstrief LOINC
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Acetylcarnitine (C2)
- Property
- SCnc
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- Acetylcarn DBS-sCnc
- Display Name
- C2 (DBS) [Moles/Vol]
- Consumer Name Alpha Get Info
- C2, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.22
- Last Updated
- Version 2.73
- Order vs. Observation
- Both
- Common Test Rank Get Info
- 17972
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 58092-8 | Acylcarnitine newborn screen panel |
| 53262-2 | Carnitine newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Acetilcarnitina (C2): Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Acetilcarnitina (C2): |
| et-EE | Estonian (Estonia) | Atsetüülkarnitiin (C2): Synonyms: Aine kontsentratsioon Juhuslik Kvantitatiivne Veri |
| fr-CA | French (Canada) | Acétylcarnitine (C2): |
| fr-FR | French (France) | Acétylcarnitine (C2): |
| fr-BE | French (Belgium) | Acétylcarnitine (C2): |
| it-IT | Italian (Italy) | Acetilcarnitina (C2): Synonyms: Chimica Concentrazione di Sostanza Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | acetylcarnitine (C2): |
| pt-BR | Portuguese (Brazil) | Acetilcarnitina (C2): Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Ацетилкарнитин (C2): Synonyms: Количественный Кровь Кровь сухая капля Молярность; |
| tr-TR | Turkish (Turkey) | Asetilkarnitin (C2): |
| zh-CN | Chinese (China) | 乙酰肉碱 (C2): Synonyms: 乙酰肉碱（肉毒碱、 |
Example Units
| Unit | Source |
|---|---|
| umol/L | Example UCUM Units |
53166-5 Butyrylcarnitine+Isobutyrylcarnitine (C4) [Moles/volume] in DBS
Part Descriptions
LP66333-3 Butyrylcarnitine+Isobutyrylcarnitine (C4)
Butyrylcarnitine+Isobutyrylcarnitine is a primary marker for Short-chain acyl-CoA dehydrogenase deficiency, Glutaric acidemia type II and Isobutyrylglycinuria, Ethylmalonic encephalopathy.
Source: Regenstrief LOINC
Observation Required in Panel
Conditional
Type of Entry
Question expects user entry - requires response [Q]
Fully-Specified Name
- Component
- Butyrylcarnitine+Isobutyrylcarnitine (C4)
- Property
- SCnc
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- Butyryl+Isobutyrylcarn DBS-sCnc
- Display Name
- Butyrylcarnitine+Isobutyrylcarnitine (C4) (DBS) [Moles/Vol]
- Consumer Name Alpha Get Info
- Butyrylcarnitine+Isobutyrylcarnitine (C4), Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.24
- Last Updated
- Version 2.73
- Order vs. Observation
- Observation
- Common Test Rank Get Info
- 17344
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 58092-8 | Acylcarnitine newborn screen panel |
| 53262-2 | Carnitine newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Butirilcarnitina+Isobutirilcarnitina: Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Butirilcarnitina + Isobutirilcarnitina (C4): |
| et-EE | Estonian (Estonia) | Butürüülkarnitiin + isobutürüülkarnitiin (C4): Synonyms: Aine kontsentratsioon Juhuslik Kvantitatiivne Veri |
| fr-CA | French (Canada) | Butyrylcarnitine+Isobutyrylcarnitine (C4): |
| fr-FR | French (France) | Butyrylcarnitine+isobutyrylcarnitine (C4): |
| fr-BE | French (Belgium) | Butyrylcarnitine+Isobutyrylcarnitine (C4): |
| it-IT | Italian (Italy) | Butirrilcarnitina+Isobutirrilcarnitina (C4): Synonyms: Chimica Concentrazione di Sostanza Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | butyrylcarnitine + isobutyrylcarnitine (C4): |
| pt-BR | Portuguese (Brazil) | Butirilcarnitina+Isobutirilcarnitina (C4): Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Бутирилкарнитин+Изобутирилкарнитин (C4): Synonyms: Количественный Кровь Кровь сухая капля Молярность; |
| tr-TR | Turkish (Turkey) | Bütirilkarnitin+izobütirilkarnitin (C4): |
| zh-CN | Chinese (China) | 丁酰肉碱+异丁酰肉碱 (C4): Synonyms: 丁酰肉碱（肉毒碱、 |
Example Units
| Unit | Source |
|---|---|
| umol/L | Example UCUM Units |
53167-3 Butyrylcarnitine+Isobutyrylcarnitine (C4)/Acetylcarnitine (C2) [Molar ratio] in DBS
Term Description
Butyrylcarnitine+Isobutyrylcarnitine/Acetylcarnitine is a primary marker for Short-chain acyl-CoA dehydrogenase deficiency, Glutaric acidemia type II and Isobutyrylglycinuria, Ethylmalonic encephalopathy.
Source: Regenstrief LOINC
Part Descriptions
LP66333-3 Butyrylcarnitine+Isobutyrylcarnitine (C4)
Butyrylcarnitine+Isobutyrylcarnitine is a primary marker for Short-chain acyl-CoA dehydrogenase deficiency, Glutaric acidemia type II and Isobutyrylglycinuria, Ethylmalonic encephalopathy.
Source: Regenstrief LOINC
LP70165-3 Acetylcarnitine (C2)
Acetyl-L-carnitine or ALCAR, is an acetylated form of L-carnitine. ALCAR has been claimed to be superior to normal L-carnitine in terms of bioavailability. However, at least one study has suggested that the acetylated form may have a lower oral bioavailability.
Copyright Text is available under the Creative Commons Attribution/Share-Alike License. See http://creativecommons.org/licenses/by-sa/3.0/ for details.
Source: Wikipedia, Acetylcarnitine
Observation Required in Panel
Conditional
Type of Entry
Question expects user entry - requires response [Q]
Fully-Specified Name
- Component
- Butyrylcarnitine+Isobutyrylcarnitine (C4)/Acetylcarnitine (C2)
- Property
- SRto
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- Butyryl+Isobutyrylcarn/C2 DBS-sRto
- Display Name
- Butyrylcarnitine+Isobutyrylcarnitine (C4)/Acetylcarnitine (C2) (DBS) [Molar ratio]
- Consumer Name Alpha Get Info
- Butyrylcarnitine+Isobutyrylcarnitine (C4)/Acetylcarnitine (C2), Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.24
- Last Updated
- Version 2.61
- Order vs. Observation
- Both
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 58092-8 | Acylcarnitine newborn screen panel |
| 53262-2 | Carnitine newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Butirilcarnitina+Isobutirilcarnitina/Acetilcarnitina (C2): Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Butirilcarnitina + Isobutirilcarnitina (C4) / Acetilcarnitina (C2): |
| fr-CA | French (Canada) | Butyrylcarnitine+Isobutyrylcarnitine (C4)/Acétylcarnitine (C2): |
| fr-FR | French (France) | Butyrylcarnitine+isobutyrylcarnitine (C4)/acétylcarnitine (C2): |
| fr-BE | French (Belgium) | Butyrylcarnitine+Isobutyrylcarnitine (C4)/Acétylcarnitine (C2): |
| it-IT | Italian (Italy) | Butirrilcarnitina+Isobutirrilcarnitina (C4)/Acetilcarnitina (C2): Synonyms: Chimica Punto nel tempo (episodio) Rapporto di sostanza Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | butyrylcarnitine + isobutyrylcarnitine (C4)/acetylcarnitine (C2): |
| pt-BR | Portuguese (Brazil) | Butirilcarnitina+Isobutirilcarnitina (C4)/Acetilcarnitina (C2): Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Бутирилкарнитин+Изобутирилкарнитин (C4)/Ацетилкарнитин (C2): Synonyms: Количественный Кровь Кровь сухая капля Мольная доля; |
| tr-TR | Turkish (Turkey) | Bütirilkarnitin+izobütirilkarnitin (C4)/Asetilkarnitin (C2): Synonyms: SubsOranı |
| zh-CN | Chinese (China) | 丁酰肉碱+异丁酰肉碱 (C4)/乙酰肉碱 (C2): Synonyms: 丁酰肉碱（肉毒碱、 |
Example Units
| Unit | Source |
|---|---|
| {Ratio} | Example UCUM Units |
53168-1 Butyrylcarnitine+Isobutyrylcarnitine (C4)/Propionylcarnitine (C3) [Molar ratio] in DBS
Term Description
Butyrylcarnitine+Isobutyrylcarnitine/Propionylcarnitine is a primary marker for Short-chain acyl-CoA dehydrogenase deficiency, Glutaric acidemia type II and Isobutyrylglycinuria, Ethylmalonic encephalopathy.
Source: Regenstrief LOINC
Part Descriptions
LP66333-3 Butyrylcarnitine+Isobutyrylcarnitine (C4)
Butyrylcarnitine+Isobutyrylcarnitine is a primary marker for Short-chain acyl-CoA dehydrogenase deficiency, Glutaric acidemia type II and Isobutyrylglycinuria, Ethylmalonic encephalopathy.
Source: Regenstrief LOINC
LP70306-3 Propionylcarnitine (C3)
Propionylcarnitine is a primary marker for Propionic acidemia, Methylmalonic acidemia (mut), Methylmalonic acidemia (Cbl A, B), Methylmalonic aciduria and homocystinuria, and Succinyl-CoA ligase deficiency. Secondary marker for Multiple carboxylase deficiency.
Source: Regenstrief LOINC
Observation Required in Panel
Conditional
Type of Entry
Question expects user entry - requires response [Q]
Fully-Specified Name
- Component
- Butyrylcarnitine+Isobutyrylcarnitine (C4)/Propionylcarnitine (C3)
- Property
- SRto
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- Butyryl+Isobutyrylcarn/C3 DBS-sRto
- Display Name
- Butyrylcarnitine+Isobutyrylcarnitine (C4)/Propionylcarnitine (C3) (DBS) [Molar ratio]
- Consumer Name Alpha Get Info
- Butyrylcarnitine+Isobutyrylcarnitine (C4)/Propionylcarnitine (C3), Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.24
- Last Updated
- Version 2.61
- Order vs. Observation
- Both
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 58092-8 | Acylcarnitine newborn screen panel |
| 53262-2 | Carnitine newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Butirilcarnitina+Isobutirilcarnitina/Propionilcarnitina (C39: Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Butirilcarnitina + Isobutirilcarnitina (C4) / Propionilcarnitina (C3): |
| fr-CA | French (Canada) | Butyrylcarnitine+Isobutyrylcarnitine (C4)/Propionylcarnitine (C3): |
| fr-FR | French (France) | Butyrylcarnitine+isobutyrylcarnitine (C4)/propionycarnitine (C3): |
| fr-BE | French (Belgium) | Butyrylcarnitine+Isobutyrylcarnitine (C4)/Propionylcarnitine (C3): |
| it-IT | Italian (Italy) | Butirrilcarnitina+Isobutirrilcarnitina (C4)/Propionilcarnitina (C3): Synonyms: Chimica Punto nel tempo (episodio) Rapporto di sostanza Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | butyrylcarnitine + isobutyrylcarnitine (C4)/propionylcarnitine (C3): |
| pt-BR | Portuguese (Brazil) | Butirilcarnitina+Isobutirilcarnitina (C4)/Propionilcarnitina (C3): Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Бутирилкарнитин+Изобутирилкарнитин (C4)/Пропионилкарнитин (C3): Synonyms: Количественный Кровь Кровь сухая капля Мольная доля; |
| tr-TR | Turkish (Turkey) | Bütirilkarnitin+izobütirilkarnitin (C4)/Propiyonilkarnitin (C3): Synonyms: SubsOranı |
| zh-CN | Chinese (China) | 丁酰肉碱+异丁酰肉碱 (C4)/丙酰肉碱 (C3): Synonyms: 丁酰肉碱（肉毒碱、 |
Example Units
| Unit | Source |
|---|---|
| {Ratio} | Example UCUM Units |
53169-9 Butyrylcarnitine+Isobutyrylcarnitine (C4)/Octanoylcarnitine (C8) [Molar ratio] in DBS
Term Description
Butyrylcarnitine+Isobutyrylcarnitine/Octanoylcarnitine is a primary marker for Short-chain acyl-CoA dehydrogenase deficiency, Isobutyrylglycinuria and Ethylmalonic encephalopathy.
Source: Regenstrief LOINC
Part Descriptions
LP66333-3 Butyrylcarnitine+Isobutyrylcarnitine (C4)
Butyrylcarnitine+Isobutyrylcarnitine is a primary marker for Short-chain acyl-CoA dehydrogenase deficiency, Glutaric acidemia type II and Isobutyrylglycinuria, Ethylmalonic encephalopathy.
Source: Regenstrief LOINC
LP70166-1 Octanoylcarnitine (C8)
Octanoylcarnitine is a primary marker for Medium-chain acyl-CoA dehydrogenase deficiency, Glutaric acidemia type II and Medium-chain ketoacyl-CoA thiolase deficiency.
Source: Regenstrief LOINC
Observation Required in Panel
Conditional
Type of Entry
Question expects user entry - requires response [Q]
Fully-Specified Name
- Component
- Butyrylcarnitine+Isobutyrylcarnitine (C4)/Octanoylcarnitine (C8)
- Property
- SRto
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- Butyryl+Isobutyrylcarn/C8 DBS-sRto
- Display Name
- Butyrylcarnitine+Isobutyrylcarnitine (C4)/Octanoylcarnitine (C8) (DBS) [Molar ratio]
- Consumer Name Alpha Get Info
- Butyrylcarnitine+Isobutyrylcarnitine (C4)/Octanoylcarnitine (C8), Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.24
- Last Updated
- Version 2.61
- Order vs. Observation
- Both
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 58092-8 | Acylcarnitine newborn screen panel |
| 53262-2 | Carnitine newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Butirilcarnitina+Isobutirilcarnitina/Octanoilcarnitina (C8): Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Butirilcarnitina + Isobutirilcarnitina (C4) / Octanoilcarnitina (C8): |
| fr-CA | French (Canada) | Butyrylcarnitine+Isobutyrylcarnitine (C4)/Octanoylcarnitine (C8): |
| fr-FR | French (France) | Butyrylcarnitine+isobutyrylcarnitine (C4)/octanoylcarnitine (C8): |
| fr-BE | French (Belgium) | Butyrylcarnitine+Isobutyrylcarnitine (C4)/Octanoylcarnitine (C8): |
| it-IT | Italian (Italy) | Butirrilcarnitina+Isobutirrilcarnitina (C4)/Octanoilcarnitina (C8): Synonyms: Chimica Punto nel tempo (episodio) Rapporto di sostanza Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | butyrylcarnitine + isobutyrylcarnitine (C4)/octanoylcarnitine (C8): |
| pt-BR | Portuguese (Brazil) | Butirilcarnitina+Isobutirilcarnitina (C4)/Octanoilcarnitina (C8): Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Бутирилкарнитин+Изобутирилкарнитин (C4)/Октаноилкарнитин (C8): Synonyms: Количественный Кровь Кровь сухая капля Мольная доля; |
| tr-TR | Turkish (Turkey) | Bütirilkarnitin+izobütirilkarnitin (C4)/Oktanoilkarnitin (C8): Synonyms: SubsOranı |
| zh-CN | Chinese (China) | 丁酰肉碱+异丁酰肉碱 (C4)/辛酰肉碱 (C8): Synonyms: 丁酰肉碱（肉毒碱、 |
Example Units
| Unit | Source |
|---|---|
| {Ratio} | Example UCUM Units |
50102-3 3-Hydroxybutyrylcarnitine (C4-OH) [Moles/volume] in DBS
Part Descriptions
LP19307-5 3-Hydroxybutyrylcarnitine (C4-OH)
3-Hydroxybutyrylcarnitine is a primary marker for Short-chain L-3-hydroxy acyl-CoA dehydrogenase deficiency.
Source: Regenstrief LOINC
Observation Required in Panel
Conditional
Type of Entry
Question expects user entry - requires response [Q]
Fully-Specified Name
- Component
- 3-Hydroxybutyrylcarnitine (C4-OH)
- Property
- SCnc
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- 3OH-Butyrcarn DBS-sCnc
- Display Name
- C4-OH (DBS) [Moles/Vol]
- Consumer Name Alpha Get Info
- C4-OH, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.22
- Last Updated
- Version 2.70
- Order vs. Observation
- Both
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 58092-8 | Acylcarnitine newborn screen panel |
| 53262-2 | Carnitine newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | 3-Hidroxibutirilcarnitina (C4-OH): Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | 3-hidroxibutirilcarnitina (C4-OH): |
| et-EE | Estonian (Estonia) | 3-hüdroksübutürüülkarnitiin (C4-OH): Synonyms: Aine kontsentratsioon Juhuslik Kvantitatiivne Veri |
| fr-CA | French (Canada) | 3-hydroxybutyrylcarnitine (C4-OH): |
| fr-FR | French (France) | 3-hydroxybutyrylcarnitine (C4-OH): |
| fr-BE | French (Belgium) | 3-hydroxybutyrylcarnitine (C4-OH): |
| it-IT | Italian (Italy) | 3-Idrossibutirrilcarnitina (C4-OH): Synonyms: Chimica Concentrazione di Sostanza Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | 3-hydroxybutyrylcarnitine (C4-OH): |
| pt-BR | Portuguese (Brazil) | 3-Hidroxibutirilcarnitina (C4-OH): Synonyms: ; |
| ru-RU | Russian (Russian Federation) | 3-Гидроксибутирилкарнитин (C4-OH): Synonyms: Количественный Кровь Кровь сухая капля Молярность; |
| tr-TR | Turkish (Turkey) | 3-Hidroksibütirilkarnitin (C4-OH): |
| zh-CN | Chinese (China) | 3-羟基丁酰肉碱 (C4-OH): Synonyms: 3-羟基丁酰肉碱（肉毒碱、 |
Example Units
| Unit | Source |
|---|---|
| umol/L | Example UCUM Units |
45211-0 Hexanoylcarnitine (C6) [Moles/volume] in DBS
Part Descriptions
LP19308-3 Hexanoylcarnitine (C6)
Hexanoylcarnitine is a secondary marker for Medium-chain acyl-CoA dehydrogenase deficiency, and Glutaric acidemia type II.
Source: Regenstrief Institute
Observation Required in Panel
Conditional
Type of Entry
Question expects user entry - requires response [Q]
Fully-Specified Name
- Component
- Hexanoylcarnitine (C6)
- Property
- SCnc
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- Hexanoylcarn DBS-sCnc
- Display Name
- C6 (DBS) [Moles/Vol]
- Consumer Name Alpha Get Info
- C6, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.17
- Last Updated
- Version 2.73
- Order vs. Observation
- Both
- Common Test Rank Get Info
- 16684
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 58092-8 | Acylcarnitine newborn screen panel |
| 53262-2 | Carnitine newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Hexanoilcarnitina (C6): Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Hexanoilcarnitina (C6): |
| et-EE | Estonian (Estonia) | Heksanoüülkarnitiin (C6): Synonyms: Aine kontsentratsioon Juhuslik Kvantitatiivne Veri |
| fr-CA | French (Canada) | Hexanoylcarnitine (C6): |
| fr-FR | French (France) | Hexanoylcarnitine (C6): |
| fr-BE | French (Belgium) | Hexanoylcarnitine (C6): |
| it-IT | Italian (Italy) | Esanoilcarnitina (C6): Synonyms: Chimica Concentrazione di Sostanza Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | hexanoylcarnitine (C6): |
| pt-BR | Portuguese (Brazil) | Hexanoilcarnitina (C6): Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Гексаноилкарнитин (C6): Synonyms: Количественный Кровь Кровь сухая капля Молярность; |
| tr-TR | Turkish (Turkey) | Hekzanoilkarnitin (C6): |
| zh-CN | Chinese (China) | 己酰肉碱 (C6): Synonyms: 克分子浓度; |
Example Units
| Unit | Source |
|---|---|
| umol/L | Example UCUM Units |
53173-1 3-Hydroxyhexanoylcarnitine (C6-OH) [Moles/volume] in DBS
Part Descriptions
LP28987-3 3-Hydroxyhexanoylcarnitine (C6-OH)
3-Hydroxyhexanoylcarnitine is a primary marker for Short-chain L-3-hydroxy acyl-CoA dehydrogenase deficiency and Medium-chain ketoacyl-CoA thiolase deficiency. Secondary marker for Short-chain L-3-hydroxy acyl-CoA dehydrogenase deficiency, Medium-chain ketoacyl-CoA thiolase deficiency
Source: Regenstrief LOINC
Observation Required in Panel
Conditional
Type of Entry
Question expects user entry - requires response [Q]
Fully-Specified Name
- Component
- 3-Hydroxyhexanoylcarnitine (C6-OH)
- Property
- SCnc
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- 3OH-Hexanoylcarn DBS-sCnc
- Display Name
- C6-OH (DBS) [Moles/Vol]
- Consumer Name Alpha Get Info
- C6-OH, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.24
- Last Updated
- Version 2.70
- Order vs. Observation
- Both
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 58092-8 | Acylcarnitine newborn screen panel |
| 53262-2 | Carnitine newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | 3-hidroxihexanoilcarnitina (C6-OH): Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | 3-hidroxihexanoilcarnitina (C6-OH): |
| et-EE | Estonian (Estonia) | 3-hüdroksüheksanoüülkarnitiin (C6-OH): Synonyms: Aine kontsentratsioon Juhuslik Kvantitatiivne Veri |
| fr-CA | French (Canada) | 3-hydroxyhexanoylcarnitine: |
| fr-FR | French (France) | 3-hydroxyhexanoylcarnitine (C6-OH): |
| fr-BE | French (Belgium) | 3-hydroxyhexanoylcarnitine (C6: |
| it-IT | Italian (Italy) | 3-Idrossiesanoilcarnitina (C6-OH): Synonyms: Chimica Concentrazione di Sostanza Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | 3-hydroxyhexanoylcarnitine (C6-OH): |
| pt-BR | Portuguese (Brazil) | 3-Hidroxihexanoilcarnitina (C6-OH): Synonyms: ; |
| ru-RU | Russian (Russian Federation) | 3-Гидроксигексаноилкарнитин (C6-OH): Synonyms: Количественный Кровь Кровь сухая капля Молярность; |
| tr-TR | Turkish (Turkey) | 3-Hidroksihekzanoylkarnitin (C6-OH): |
| zh-CN | Chinese (China) | 3-羟基己酰肉碱 (C6-OH): Synonyms: 3-羟基己酰肉碱（肉毒碱、 |
Example Units
| Unit | Source |
|---|---|
| umol/L | Example UCUM Units |
45207-8 Glutarylcarnitine (C5-DC) [Moles/volume] in DBS
Part Descriptions
LP19314-1 Glutarylcarnitine (C5-DC)
Glutaric aciduria type I (GA I) is an autosomal-recessive deficiency of glutaryl-CoA-dehydrogenase and leads to encephalopathic crises resulting in neurological damage. A screening parameter is glutarylcarnitine (C5DC) with carnitine ratios. C5DC was shown to be significantly associated with renal manifestations. Creatinine correlates significantly with C5DC and all C5DC/acylcarnitine ratios. PMID: 20033292
Source: Regenstrief LOINC
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Glutarylcarnitine (C5-DC)
- Property
- SCnc
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- Glutarylcarn DBS-sCnc
- Display Name
- C5-DC (DBS) [Moles/Vol]
- Consumer Name Alpha Get Info
- C5-DC, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.17
- Last Updated
- Version 2.73
- Order vs. Observation
- Both
- Common Test Rank Get Info
- 17229
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 58092-8 | Acylcarnitine newborn screen panel |
| 53262-2 | Carnitine newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Glutarilcarnitina (C5-DC): Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Glutarilcarnitina (C5-DC): |
| et-EE | Estonian (Estonia) | Glutarüülkarnitiin (C5-DC): Synonyms: Aine kontsentratsioon Juhuslik Kvantitatiivne Veri |
| fr-CA | French (Canada) | Glutarylcarnitine (C5-DC): |
| fr-FR | French (France) | Glutarylcarnitine (C5-DC): |
| fr-BE | French (Belgium) | Glutarylcarnitine (C5-DC): |
| it-IT | Italian (Italy) | Glutarilcarnitina (C5-DC): Synonyms: Chimica Concentrazione di Sostanza Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | glutarylcarnitine (C5-DC): |
| pt-BR | Portuguese (Brazil) | Glutarilcarnitina (C5-DC): Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Глутарилкарнитин (C5-DC): Synonyms: Количественный Кровь Кровь сухая капля Молярность; |
| tr-TR | Turkish (Turkey) | Glutarilkarnitin (C5-DC): |
| zh-CN | Chinese (China) | 戊二酰肉碱 (C5-DC): Synonyms: 克分子浓度; |
Example Units
| Unit | Source |
|---|---|
| umol/L | Example UCUM Units |
53174-9 Octenoylcarnitine (C8:1) [Moles/volume] in DBS
Part Descriptions
LP19312-5 Octenoylcarnitine (C8:1)
Octenoylcarnitine is a secondary marker for Medium-chain ketoacyl-CoA thiolase deficiency.
Source: Regenstrief LOINC
Observation Required in Panel
Conditional
Type of Entry
Question expects user entry - requires response [Q]
Fully-Specified Name
- Component
- Octenoylcarnitine (C8:1)
- Property
- SCnc
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- Octenoylcarn DBS-sCnc
- Display Name
- C8:1 (DBS) [Moles/Vol]
- Consumer Name Alpha Get Info
- C8:1, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.24
- Last Updated
- Version 2.73
- Order vs. Observation
- Both
- Common Test Rank Get Info
- 17563
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 58092-8 | Acylcarnitine newborn screen panel |
| 53262-2 | Carnitine newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Octenoilcarnitina (C8: Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Octenoilcarnitina (C8: |
| et-EE | Estonian (Estonia) | Oktenoüülkarnitiin (C8: Synonyms: Aine kontsentratsioon Juhuslik Kvantitatiivne Veri |
| fr-CA | French (Canada) | Octenoylcarnitine (C8: |
| fr-FR | French (France) | Octènoylcarnitine (C8: |
| fr-BE | French (Belgium) | Octenoylcarnitine (C8: |
| it-IT | Italian (Italy) | Octenoilcarnitina (C8: Synonyms: Chimica Concentrazione di Sostanza Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | octenoylcarnitine (C8: |
| pt-BR | Portuguese (Brazil) | Octenoilcarnitina (C8: Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Октеноилкарнитин (C8: Synonyms: Количественный Кровь Кровь сухая капля Молярность; |
| tr-TR | Turkish (Turkey) | Oktenoilkarnitin (C8: |
| zh-CN | Chinese (China) | 辛烯酰肉碱 (C8: Synonyms: Ⅰ I 克分子浓度; |
Example Units
| Unit | Source |
|---|---|
| umol/L | Example UCUM Units |
53175-6 Octanoylcarnitine (C8) [Moles/volume] in DBS
Part Descriptions
LP19313-3 Octanoylcarnitine (C8)
Octanoylcarnitine is a primary marker for Medium-chain acyl-CoA dehydrogenase deficiency, Glutaric acidemia type II and Medium-chain ketoacyl-CoA thiolase deficiency.
Source: Regenstrief LOINC
Observation Required in Panel
Conditional
Type of Entry
Question expects user entry - requires response [Q]
Fully-Specified Name
- Component
- Octanoylcarnitine (C8)
- Property
- SCnc
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- Octanoylcarn DBS-sCnc
- Display Name
- C8 (DBS) [Moles/Vol]
- Consumer Name Alpha Get Info
- C8, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.24
- Last Updated
- Version 2.73
- Order vs. Observation
- Both
- Common Test Rank Get Info
- 17769
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 58092-8 | Acylcarnitine newborn screen panel |
| 53262-2 | Carnitine newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Octanoilcarnitina (C8): Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Octanoilcarnitina (C8): |
| et-EE | Estonian (Estonia) | Oktanoüülkarnitiin (C8): Synonyms: Aine kontsentratsioon Juhuslik Kvantitatiivne Veri |
| fr-CA | French (Canada) | Octanoylcarnitine (C8): |
| fr-FR | French (France) | Octanoylcarnitine (C8): |
| fr-BE | French (Belgium) | Octanoylcarnitine (C8): |
| it-IT | Italian (Italy) | Octanoilcarnitina (C8): Synonyms: Chimica Concentrazione di Sostanza Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | octanoylcarnitine (C8): |
| pt-BR | Portuguese (Brazil) | Octanoilcarnitina (C8): Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Октаноилкарнитин (C8): Synonyms: Количественный Кровь Кровь сухая капля Молярность; |
| tr-TR | Turkish (Turkey) | Oktanoilkarnitin (C8): |
| zh-CN | Chinese (China) | 辛酰肉碱 (C8): Synonyms: 克分子浓度; |
Example Units
| Unit | Source |
|---|---|
| umol/L | Example UCUM Units |
53176-4 Octanoylcarnitine (C8)/Acetylcarnitine (C2) [Molar ratio] in DBS
Term Description
Octanoylcarnitine/Acetylcarnitine is a primary marker for Medium-chain acyl-CoA dehydrogenase deficiency, Glutaric acidemia type II and Medium-chain ketoacyl-CoA thiolase deficiency.
Source: Regenstrief LOINC
Part Descriptions
LP19313-3 Octanoylcarnitine (C8)
Octanoylcarnitine is a primary marker for Medium-chain acyl-CoA dehydrogenase deficiency, Glutaric acidemia type II and Medium-chain ketoacyl-CoA thiolase deficiency.
Source: Regenstrief LOINC
LP70165-3 Acetylcarnitine (C2)
Acetyl-L-carnitine or ALCAR, is an acetylated form of L-carnitine. ALCAR has been claimed to be superior to normal L-carnitine in terms of bioavailability. However, at least one study has suggested that the acetylated form may have a lower oral bioavailability.
Copyright Text is available under the Creative Commons Attribution/Share-Alike License. See http://creativecommons.org/licenses/by-sa/3.0/ for details.
Source: Wikipedia, Acetylcarnitine
Observation Required in Panel
Conditional
Type of Entry
Question expects user entry - requires response [Q]
Fully-Specified Name
- Component
- Octanoylcarnitine (C8)/Acetylcarnitine (C2)
- Property
- SRto
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- Octanoylcarn/C2 DBS-sRto
- Display Name
- C8/Acetylcarnitine (C2) (DBS) [Molar ratio]
- Consumer Name Alpha Get Info
- C8/Acetylcarnitine (C2), Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.24
- Last Updated
- Version 2.73
- Order vs. Observation
- Both
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 58092-8 | Acylcarnitine newborn screen panel |
| 53262-2 | Carnitine newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Octanoilcarnitina (C8)/Acetilcarnitina (C2): Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Octanoilcarnitina (C8) / Acetilcarnitina (C2): |
| fr-CA | French (Canada) | Octanoylcarnitine (C8)/Acétylcarnitine (C2): |
| fr-FR | French (France) | Octanoylcarnitine (C8)/acétylcarnitine (C2): |
| fr-BE | French (Belgium) | Octanoylcarnitine (C8)/Acétylcarnitine (C2): |
| it-IT | Italian (Italy) | Octanoilcarnitina (C8)/Acetilcarnitina (C2): Synonyms: Chimica Punto nel tempo (episodio) Rapporto di sostanza Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | octanoylcarnitine (C8)/acetylcarnitine (C2): |
| pt-BR | Portuguese (Brazil) | Octanoilcarnitina (C8)/Acetilcarnitina (C2): Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Октаноилкарнитин (C8)/Ацетилкарнитин (C2): Synonyms: Количественный Кровь Кровь сухая капля Мольная доля; |
| tr-TR | Turkish (Turkey) | Oktanoilkarnitin (C8)/Asetilkarnitin (C2): Synonyms: SubsOranı |
| zh-CN | Chinese (China) | 辛酰肉碱 (C8)/乙酰肉碱 (C2): Synonyms: 乙酰肉碱（肉毒碱、 |
Example Units
| Unit | Source |
|---|---|
| {Ratio} | Example UCUM Units |
53177-2 Octanoylcarnitine (C8)/Decanoylcarnitine (C10) [Molar ratio] in DBS
Term Description
Octanoylcarnitine/Decanoylcarnitine is a primary marker for Secondary marker for Medium-chain acyl-CoA dehydrogenase deficiency, and Medium-chain ketoacyl-CoA thiolase deficiency.
Source: Regenstrief LOINC
Part Descriptions
LP19313-3 Octanoylcarnitine (C8)
Octanoylcarnitine is a primary marker for Medium-chain acyl-CoA dehydrogenase deficiency, Glutaric acidemia type II and Medium-chain ketoacyl-CoA thiolase deficiency.
Source: Regenstrief LOINC
LP70167-9 Decanoylcarnitine (C10)
Decanoylcarnitine is a primary marker for Medium-chain acyl-CoA dehydrogenase deficiency and Glutaric acidemia type II. Secondary marker for Medium-chain ketoacyl-CoA thiolase deficiency.
Source: Regenstrief LOINC
Observation Required in Panel
Conditional
Type of Entry
Question expects user entry - requires response [Q]
Fully-Specified Name
- Component
- Octanoylcarnitine (C8)/Decanoylcarnitine (C10)
- Property
- SRto
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- Octanoylcarn/C10 DBS-sRto
- Display Name
- C8/Decanoylcarnitine (C10) (DBS) [Molar ratio]
- Consumer Name Alpha Get Info
- C8/Decanoylcarnitine (C10), Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.24
- Last Updated
- Version 2.73
- Order vs. Observation
- Both
- Common Test Rank Get Info
- 17083
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 58092-8 | Acylcarnitine newborn screen panel |
| 53262-2 | Carnitine newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Octanoilcarnitina (C8)/Decanoilcarnitina (C10): Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Octanoilcarnitina (C8) / Decanoilcarnitina (C10): |
| fr-CA | French (Canada) | Octanoylcarnitine (C8)/Décanoylcarnitine (C10): |
| fr-FR | French (France) | Octanoylcarnitine (C8)/décanoylcarnitine (C10): |
| fr-BE | French (Belgium) | Octanoylcarnitine (C8)/Décanoylcarnitine (C10): |
| it-IT | Italian (Italy) | Octanoilcarnitina (C8)/Decanoilcarnitina (C10): Synonyms: Chimica Punto nel tempo (episodio) Rapporto di sostanza Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | octanoylcarnitine (C8)/decanoylcarnitine (C10): |
| pt-BR | Portuguese (Brazil) | Octanoilcarnitina (C8)/Decanoilcarnitina (C10): Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Октаноилкарнитин (C8)/Деканоилкарнитин (C10): Synonyms: Количественный Кровь Кровь сухая капля Мольная доля; |
| tr-TR | Turkish (Turkey) | Oktanoilkarnitin (C8)/Dekanoilkarnitin (C10): Synonyms: SubsOranı |
| zh-CN | Chinese (China) | 辛酰肉碱 (C8)/癸酰肉碱 (C10): Synonyms: 全血斑点(滤纸); |
Example Units
| Unit | Source |
|---|---|
| {Ratio} | Example UCUM Units |
53178-0 3-Hydroxyoctanoylcarnitine (C8-OH)+Malonylcarnitine (C3-DC) [Moles/volume] in DBS
Part Descriptions
LP70084-6 3-Hydroxyoctanoylcarnitine (C8-OH)+Malonylcarnitine (C3-DC)
3-Hydroxyoctanoylcarnitine+Malonylcarnitine is a primary marker for Malonic acidemia and Medium-chain ketoacyl-CoA thiolase deficiency.
Source: Regenstrief LOINC
Observation Required in Panel
Conditional
Type of Entry
Question expects user entry - requires response [Q]
Fully-Specified Name
- Component
- 3-Hydroxyoctanoylcarnitine (C8-OH)+Malonylcarnitine (C3-DC)
- Property
- SCnc
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- 3OHoctanoyl+Malonylcarn DBS-sCnc
- Display Name
- C8-OH+C3-DC (DBS) [Moles/Vol]
- Consumer Name Alpha Get Info
- C8-OH+C3-DC, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.24
- Last Updated
- Version 2.70
- Order vs. Observation
- Both
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 58092-8 | Acylcarnitine newborn screen panel |
| 53262-2 | Carnitine newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | 3-Hidroxioctanoilcarnitina (C8-OH)+Malonilcarnitina (C3-DC): Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | 3-hidroxioctanoilcarnitina (C8-OH) + malonilcarnitina (C3-DC): |
| et-EE | Estonian (Estonia) | 3-hüdroksüoktanoüülkarnitiin (C8-OH) + malonüülkarnitiin (C3-DC): Synonyms: Aine kontsentratsioon Juhuslik Kvantitatiivne Veri |
| fr-CA | French (Canada) | 3-hydroxyoctanoylcarnitine (C8-OH)+ Malonylcarnitine (C3-DC): Synonyms: #REF! |
| fr-FR | French (France) | 3-hydroxyoctanoylcarnitine (C8-OH)+malonylcarnitine (C3-DC): |
| fr-BE | French (Belgium) | 3-Hydroxyoctanoylcarnitine (C8-OH)+Malonylcarnitine (C3-DC): |
| it-IT | Italian (Italy) | 3-Idrossiottanoilcarnitina (C8-OH)+Malonilcarnitina (C3-DC): Synonyms: Chimica Concentrazione di Sostanza Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | 3-hydroxyoctanoylcarnitine (C8-OH) + malonylcarnitine (C3-DC): |
| pt-BR | Portuguese (Brazil) | 3-Hidroxioctanoilcarnitina (C8-OH)+Malonilcarnitina (C3-DC): Synonyms: ; |
| ru-RU | Russian (Russian Federation) | 3-Гидроксиоктаноилкарнитин (C8-OH)+Малонилкарнитин (C3-DC): Synonyms: Количественный Кровь Кровь сухая капля Молярность; |
| tr-TR | Turkish (Turkey) | 3-Hidroksioktanoilkarnitin (C8-OH)+Malonylkarnitin (C3-DC): |
| zh-CN | Chinese (China) | 3-羟基辛酰基肉碱 (C8-OH)+丙二酰肉碱 (C3-DC): Synonyms: 3-羟基辛酰基肉碱（肉毒碱、 |
Example Units
| Unit | Source |
|---|---|
| umol/L | Example UCUM Units |
53402-4 3-Hydroxyoctanoylcarnitine (C8-OH)+Malonylcarnitine (C3-DC)/Butyrylcarnitine+Isobutyrylcarnitine (C4) [Molar ratio] in DBS
Part Descriptions
LP70084-6 3-Hydroxyoctanoylcarnitine (C8-OH)+Malonylcarnitine (C3-DC)
3-Hydroxyoctanoylcarnitine+Malonylcarnitine is a primary marker for Malonic acidemia and Medium-chain ketoacyl-CoA thiolase deficiency.
Source: Regenstrief LOINC
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- 3-Hydroxyoctanoylcarnitine (C8-OH)+Malonylcarnitine (C3-DC)/Butyrylcarnitine+Isobutyrylcarnitine (C4)
- Property
- SRto
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- 3OHoctanoyl+Malonylcarn/C4 DBS-sRto
- Display Name
- C8-OH+C3-DC/Butyrylcarnitine+Isobutyrylcarnitine (C4) (DBS) [Molar ratio]
- Consumer Name Alpha Get Info
- C8-OH+C3-DC/Butyrylcarnitine+Isobutyrylcarnitine (C4), Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.24
- Last Updated
- Version 2.70
- Order vs. Observation
- Observation
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 58092-8 | Acylcarnitine newborn screen panel |
| 53262-2 | Carnitine newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | 3-Hidroxioctanoilcarnitina (C8-OH)+Malonilcarnitina (C3-DC)/Butirilcarnitina + Isobutirilcarnitina (C4): Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | 3-hidroxioctanoilcarnitina (C8-OH) + malonilcarnitina (C3-DC) / butirilcarnitina + isobutirilcarnitina (C4): |
| fr-CA | French (Canada) | 3-hydroxyoctanoylcarnitine (C8-OH)+ Malonylcarnitine (C3-DC)/Butyrylcarnitine+Isobutyrylcarnitine (C4): Synonyms: #REF! |
| fr-FR | French (France) | 3-hydroxyoctanoylcarnitine (C8-OH)+malonylcarnitine (C3-DC)/butyrylcarnitine+isobutyrylcarnitine (C4): |
| fr-BE | French (Belgium) | 3-Hydroxyoctanoylcarnitine (C8-OH)+Malonylcarnitine (C3-DC)/Butyrylcarnitine+Isobutyrylcarnitine (C4): |
| it-IT | Italian (Italy) | 3-Idrossiottanoilcarnitina (C8-OH)+Malonilcarnitina (C3-DC)/Butirrilcarnitina+Isobutirrilcarnitina (C4): Synonyms: Chimica Punto nel tempo (episodio) Rapporto di sostanza Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | 3-hydroxyoctanoylcarnitine (C8-OH) + malonylcarnitine (C3-DC)/butyrylcarnitine + isobutyrylcarnitine (C4): |
| pt-BR | Portuguese (Brazil) | 3-Hidroxioctanoilcarnitina (C8-OH)+Malonilcarnitina (C3-DC)/Butirilcarnitina+Isobutirilcarnitina (C4): Synonyms: ; |
| ru-RU | Russian (Russian Federation) | 3-Гидроксиоктаноилкарнитин (C8-OH)+Малонилкарнитин (C3-DC)/Бутирилкарнитин+Изобутирилкарнитин (C4): Synonyms: Количественный Кровь Кровь сухая капля Мольная доля; |
| tr-TR | Turkish (Turkey) | 3-Hidroksioktanoilkarnitin (C8-OH)+Malonylkarnitin (C3-DC)/Bütirilkarnitin+izobütirilkarnitin (C4): Synonyms: SubsOranı |
| zh-CN | Chinese (China) | 3-羟基辛酰基肉碱 (C8-OH)+丙二酰肉碱 (C3-DC)/丁酰肉碱+异丁酰肉碱 (C4): Synonyms: 3-羟基辛酰基肉碱（肉毒碱、 |
Example Units
| Unit | Source |
|---|---|
| {Ratio} | Example UCUM Units |
53179-8 3-Hydroxyoctanoylcarnitine (C8-OH)+Malonylcarnitine (C3-DC)/Decanoylcarnitine (C10) [Molar ratio] in DBS
Term Description
3-Hydroxyoctanoylcarnitine+Malonylcarnitine/Decanoylcarnitine is a primary marker for Malonic acidemia and Medium-chain ketoacyl-CoA thiolase deficiency.
Source: Regenstrief LOINC
Part Descriptions
LP70084-6 3-Hydroxyoctanoylcarnitine (C8-OH)+Malonylcarnitine (C3-DC)
3-Hydroxyoctanoylcarnitine+Malonylcarnitine is a primary marker for Malonic acidemia and Medium-chain ketoacyl-CoA thiolase deficiency.
Source: Regenstrief LOINC
LP70167-9 Decanoylcarnitine (C10)
Decanoylcarnitine is a primary marker for Medium-chain acyl-CoA dehydrogenase deficiency and Glutaric acidemia type II. Secondary marker for Medium-chain ketoacyl-CoA thiolase deficiency.
Source: Regenstrief LOINC
Observation Required in Panel
Conditional
Type of Entry
Question expects user entry - requires response [Q]
Fully-Specified Name
- Component
- 3-Hydroxyoctanoylcarnitine (C8-OH)+Malonylcarnitine (C3-DC)/Decanoylcarnitine (C10)
- Property
- SRto
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- 3OHoctanoyl+Malonylcarn/C10 DBS-sRto
- Display Name
- C8-OH+C3-DC/Decanoylcarnitine (C10) (DBS) [Molar ratio]
- Consumer Name Alpha Get Info
- C8-OH+C3-DC/Decanoylcarnitine (C10), Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.24
- Last Updated
- Version 2.61
- Order vs. Observation
- Both
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 58092-8 | Acylcarnitine newborn screen panel |
| 53262-2 | Carnitine newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | 3-Hidroxioctanoilcarnitina (C8-OH)+Malonilcarnitina (C3-DC)/Decanoilcarnitina (C10): Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | 3-hidroxioctanoilcarnitina (C8-OH) + malonilcarnitina (C3-DC) / decanoilcarnitina (C10): |
| fr-CA | French (Canada) | 3-hydroxyoctanoylcarnitine (C8-OH)+ Malonylcarnitine (C3-DC)/Décanoylcarnitine (C10): Synonyms: #REF! |
| fr-FR | French (France) | 3-hydroxyoctanoylcarnitine (C8-OH)+malonylcarnitine (C3-DC)/décanoylcarnitine (C10): |
| fr-BE | French (Belgium) | 3-Hydroxyoctanoylcarnitine (C8-OH)+Malonylcarnitine (C3-DC)/Décanoylcarnitine (C10): |
| it-IT | Italian (Italy) | 3-Idrossiottanoilcarnitina (C8-OH)+Malonilcarnitina (C3-DC)/Decanoilcarnitina (C10): Synonyms: Chimica Punto nel tempo (episodio) Rapporto di sostanza Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | 3-hydroxyoctanoylcarnitine (C8-OH) + malonylcarnitine (C3-DC)/decanoylcarnitine (C10): |
| pt-BR | Portuguese (Brazil) | 3-Hidroxioctanoilcarnitina (C8-OH)+Malonilcarnitina (C3-DC)/Decanoilcarnitina (C10): Synonyms: ; |
| ru-RU | Russian (Russian Federation) | 3-Гидроксиоктаноилкарнитин (C8-OH)+Малонилкарнитин (C3-DC)/Деканоилкарнитин (C10): Synonyms: Количественный Кровь Кровь сухая капля Мольная доля; |
| tr-TR | Turkish (Turkey) | 3-Hidroksioktanoilkarnitin (C8-OH)+Malonylkarnitin (C3-DC)/Dekanoilkarnitin (C10): Synonyms: SubsOranı |
| zh-CN | Chinese (China) | 3-羟基辛酰基肉碱 (C8-OH)+丙二酰肉碱 (C3-DC)/癸酰肉碱 (C10): Synonyms: 3-羟基辛酰基肉碱（肉毒碱、 |
Example Units
| Unit | Source |
|---|---|
| {Ratio} | Example UCUM Units |
53180-6 Decadienoylcarnitine (C10:2) [Moles/volume] in DBS
Part Descriptions
LP70085-3 Decadienoylcarnitine (C10:2)
Decadienoylcarnitine is a primary marker for 2,4-Dienoyl-CoA reductase deficiency.
Source: Regenstrief LOINC
Observation Required in Panel
Conditional
Type of Entry
Question expects user entry - requires response [Q]
Fully-Specified Name
- Component
- Decadienoylcarnitine (C10:2)
- Property
- SCnc
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- Decadienoylcarn DBS-sCnc
- Display Name
- C10:2 (DBS) [Moles/Vol]
- Consumer Name Alpha Get Info
- C10:2, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.24
- Last Updated
- Version 2.73
- Order vs. Observation
- Both
- Common Test Rank Get Info
- 18254
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 58092-8 | Acylcarnitine newborn screen panel |
| 53262-2 | Carnitine newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Decadienoilcarnitina (C10: Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Decadienoilcarnitina (C10: |
| et-EE | Estonian (Estonia) | Dekadienoüülkarnitiin (C10: Synonyms: Aine kontsentratsioon Juhuslik Kvantitatiivne Veri |
| fr-CA | French (Canada) | Décadienoylcarnitine (C10: |
| fr-FR | French (France) | Décadiénoylcarnitine (C10: |
| fr-BE | French (Belgium) | Décadienoylcarnitine (C10: |
| it-IT | Italian (Italy) | Decadienoilcarnitina (C10: Synonyms: Chimica Concentrazione di Sostanza Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | decadienoylcarnitine (C10: |
| pt-BR | Portuguese (Brazil) | Decadienoilcarnitina (C10: Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Декадиеноилкарнитин (C10: Synonyms: Количественный Кровь Кровь сухая капля Молярность; |
| tr-TR | Turkish (Turkey) | Dekadienoilkarnitin (C10: |
| zh-CN | Chinese (China) | 癸二烯酰肉碱 (C10: Synonyms: Ⅱ II 克分子浓度; |
Example Units
| Unit | Source |
|---|---|
| umol/L | Example UCUM Units |
45198-9 Decenoylcarnitine (C10:1) [Moles/volume] in DBS
Part Descriptions
LP29044-2 Decenoylcarnitine (C10:1)
Decenoylcarnitine is a primary marker for Medium-chain acyl-CoA dehydrogenase deficiency and Glutaric acidemia type II. Secondary marker for Medium-chain ketoacyl-CoA thiolase deficiency.
Source: Regenstrief LOINC
Observation Required in Panel
Conditional
Type of Entry
Question expects user entry - requires response [Q]
Fully-Specified Name
- Component
- Decenoylcarnitine (C10:1)
- Property
- SCnc
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- Decenoylcarn DBS-sCnc
- Display Name
- C10:1 (DBS) [Moles/Vol]
- Consumer Name Alpha Get Info
- C10:1, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.17
- Last Updated
- Version 2.73
- Order vs. Observation
- Both
- Common Test Rank Get Info
- 19935
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 58092-8 | Acylcarnitine newborn screen panel |
| 53262-2 | Carnitine newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Decenoilcarnitina (C10: Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Decenoilcarnitina (C10: |
| et-EE | Estonian (Estonia) | Dekenoüülkarnitiin (C10: Synonyms: Aine kontsentratsioon Juhuslik Kvantitatiivne Veri |
| fr-CA | French (Canada) | Décénoylcarnitine: |
| fr-FR | French (France) | Décènoylcarnitine (C10: |
| fr-BE | French (Belgium) | Décénoylcarnitine (C10: |
| it-IT | Italian (Italy) | Decenoilcarnitina (C10: Synonyms: Chimica Concentrazione di Sostanza Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | decenoylcarnitine (C10: |
| pt-BR | Portuguese (Brazil) | Decenoilcarnitina (C10: Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Деценоилкарнитин (C10: Synonyms: Количественный Кровь Кровь сухая капля Молярность; |
| tr-TR | Turkish (Turkey) | Dekenoilkarnitin (C10: |
| zh-CN | Chinese (China) | 癸烯酰肉碱 (C10: Synonyms: Ⅰ I 克分子浓度; |
Example Units
| Unit | Source |
|---|---|
| umol/L | Example UCUM Units |
45197-1 Decanoylcarnitine (C10) [Moles/volume] in DBS
Part Descriptions
LP19317-4 Decanoylcarnitine (C10)
Decanoylcarnitine is a primary marker for Medium-chain acyl-CoA dehydrogenase deficiency and Glutaric acidemia type II. Secondary marker for Medium-chain ketoacyl-CoA thiolase deficiency.
Source: Regenstrief LOINC
Observation Required in Panel
Conditional
Type of Entry
Question expects user entry - requires response [Q]
Fully-Specified Name
- Component
- Decanoylcarnitine (C10)
- Property
- SCnc
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- Decanoylcarn DBS-sCnc
- Display Name
- C10 (DBS) [Moles/Vol]
- Consumer Name Alpha Get Info
- C10, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.17
- Last Updated
- Version 2.73
- Order vs. Observation
- Both
- Common Test Rank Get Info
- 18157
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 58092-8 | Acylcarnitine newborn screen panel |
| 53262-2 | Carnitine newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Decanoilcarnitina (C10): Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Decanoilcarnitina (C10): |
| et-EE | Estonian (Estonia) | Dekanoüülkarnitiin (C10): Synonyms: Aine kontsentratsioon Juhuslik Kvantitatiivne Veri |
| fr-CA | French (Canada) | Décanoylcarnitine (C10): |
| fr-FR | French (France) | Décanoylcarnitine (C10): |
| fr-BE | French (Belgium) | Décanoylcarnitine (C10): |
| it-IT | Italian (Italy) | Decanoilcarnitina (C10): Synonyms: Chimica Concentrazione di Sostanza Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | decanoylcarnitine (C10): |
| pt-BR | Portuguese (Brazil) | Decanoilcarnitina (C10): Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Деканоилкарнитин (C10): Synonyms: Количественный Кровь Кровь сухая капля Молярность; |
| tr-TR | Turkish (Turkey) | Dekanoilkarnitin (C10): |
| zh-CN | Chinese (China) | 癸酰肉碱 (C10): Synonyms: 克分子浓度; |
Example Units
| Unit | Source |
|---|---|
| umol/L | Example UCUM Units |
53182-2 3-Hydroxydecenoylcarnitine (C10:1-OH) [Moles/volume] in DBS
Part Descriptions
LP70087-9 3-Hydroxydecenoylcarnitine (C10:1-OH)
3-Hydroxydecenoylcarnitine is a secondary marker for Long-chain L-3-Hydroxy dehydrogenase deficiency, Medium-chain ketoacyl-CoA thiolase deficiency, and Trifunctional protein deficiency.
Source: Regenstrief LOINC
Observation Required in Panel
Conditional
Type of Entry
Question expects user entry - requires response [Q]
Fully-Specified Name
- Component
- 3-Hydroxydecenoylcarnitine (C10:1-OH)
- Property
- SCnc
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- 3-OH-decenoylcarn DBS-sCnc
- Display Name
- C10:1-OH (DBS) [Moles/Vol]
- Consumer Name Alpha Get Info
- C10:1-OH, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.24
- Last Updated
- Version 2.73
- Order vs. Observation
- Both
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 58092-8 | Acylcarnitine newborn screen panel |
| 53262-2 | Carnitine newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | 3-Hidroxidecenoilcarnitina (C10: Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | 3-hidroxidocenoilcarnitina (C10: |
| et-EE | Estonian (Estonia) | 3-hüdroksüdekenoüülkarnitiin (C10: Synonyms: Aine kontsentratsioon Juhuslik Kvantitatiivne Veri |
| fr-CA | French (Canada) | 3-hydroxydécenoylcarnitine (C10: |
| fr-FR | French (France) | 3-hydroxydécénoylcarnitine (C10: |
| fr-BE | French (Belgium) | 3-Hydroxydécenoylcarnitine (C10: |
| it-IT | Italian (Italy) | 3-Idrossidecanoilcarnitina (C10: Synonyms: Chimica Concentrazione di Sostanza Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | 3-hydroxydecenoylcarnitine (C10: |
| pt-BR | Portuguese (Brazil) | 3-Hidroxidecenoilcarnitina (C10: Synonyms: ; |
| ru-RU | Russian (Russian Federation) | 3-Гидроксидеценоилкарнитин (C10: Synonyms: Количественный Кровь Кровь сухая капля Молярность; |
| tr-TR | Turkish (Turkey) | 3-Hidroksidecenoylkarnitin (C10: |
| zh-CN | Chinese (China) | 3-羟基十二烯酸基肉碱 (C10: Synonyms: Ⅰ 3-羟基十二烯酸基肉碱（肉毒碱、 |
Example Units
| Unit | Source |
|---|---|
| umol/L | Example UCUM Units |
53183-0 Glutarylcarnitine (C5-DC)+3-Hydroxydecanoylcarnitine (C10-OH) [Moles/volume] in DBS
Part Descriptions
LP66334-1 Glutarylcarnitine (C5-DC)+3-Hydroxydecanoylcarnitine (C10-OH)
Glutarylcarnitine+3-Hydroxydecanoylcarnitine is a primary marker for Glutaric acidemia type I and Glutaric acidemia type II. Secondary marker for Maternal glutaric acidemia type I.
Source: Regenstrief LOINC
Observation Required in Panel
Conditional
Type of Entry
Question expects user entry - requires response [Q]
Fully-Specified Name
- Component
- Glutarylcarnitine (C5-DC)+3-Hydroxydecanoylcarnitine (C10-OH)
- Property
- SCnc
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- Glut+3OHdecanoylcarn DBS-sCnc
- Display Name
- C5-DC+C10-OH (DBS) [Moles/Vol]
- Consumer Name Alpha Get Info
- C5-DC+C10-OH, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.24
- Last Updated
- Version 2.73
- Order vs. Observation
- Both
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 58092-8 | Acylcarnitine newborn screen panel |
| 53262-2 | Carnitine newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Glutarilcarnitina+3-Hidroxidecanoilcarnitina: Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Glutarilcarnitina (C5-DC) + 3-Hidroxidocanoilcarnitina (C10-OH): |
| et-EE | Estonian (Estonia) | Glutarüülkarnitiin (C5-DC) + 3-hüdroksüdekanoüülkarnitiin (C10-OH): Synonyms: Aine kontsentratsioon Juhuslik Kvantitatiivne Veri |
| fr-CA | French (Canada) | Glutarylcarnitine (C5-DC)+ 3-hydroxydécanoylcarnitine (C10-OH): |
| fr-FR | French (France) | Glutarylcarnitine (C5-DC)+3-hydroxydécanoylcarnitine (C10-OH): |
| fr-BE | French (Belgium) | Glutarylcarnitine (C5-DC)+3-Hydroxydecanoylcarnitine (C10-OH): |
| it-IT | Italian (Italy) | Glutarilcarnitina (C5-DC)+3-Idrossidecanoilcarnitina (C10-OH): Synonyms: Chimica Concentrazione di Sostanza Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | glutarylcarnitine (C5-DC) + 3-hydroxydecanoylcarnitine (C10-OH): |
| pt-BR | Portuguese (Brazil) | Glutarilcarnitina (C5-DC)+3-Hidroxidecanoilcarnitina (C10-OH): Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Глутарилкарнитин (C5-DC)+3-Гидроксидканоилкарнитин (C10-OH): Synonyms: Количественный Кровь Кровь сухая капля Молярность; |
| tr-TR | Turkish (Turkey) | Glutarilkarnitin (C5-DC)+3-Hidroksidekanoilkarnitin (C10-OH): |
| zh-CN | Chinese (China) | 戊二酰肉碱 (C5-DC)+3-羟癸酰肉碱 (C10-OH): Synonyms: 3-羟癸酰肉碱（肉毒碱、 |
Example Units
| Unit | Source |
|---|---|
| umol/L | Example UCUM Units |
53403-2 Glutarylcarnitine (C5-DC)+3-Hydroxydecanoylcarnitine (C10-OH)/Butyrylcarnitine+Isobutyrylcarnitine (C4) [Molar ratio] in DBS
Part Descriptions
LP66334-1 Glutarylcarnitine (C5-DC)+3-Hydroxydecanoylcarnitine (C10-OH)
Glutarylcarnitine+3-Hydroxydecanoylcarnitine is a primary marker for Glutaric acidemia type I and Glutaric acidemia type II. Secondary marker for Maternal glutaric acidemia type I.
Source: Regenstrief LOINC
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Glutarylcarnitine (C5-DC)+3-Hydroxydecanoylcarnitine (C10-OH)/Butyrylcarnitine+Isobutyrylcarnitine (C4)
- Property
- SRto
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- Glut+3OHdecanoylcarn/C4 DBS-sRto
- Display Name
- C5-DC+C10-OH/Butyrylcarnitine+Isobutyrylcarnitine (C4) (DBS) [Molar ratio]
- Consumer Name Alpha Get Info
- C5-DC+C10-OH/Butyrylcarnitine+Isobutyrylcarnitine (C4), Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.24
- Last Updated
- Version 2.73
- Order vs. Observation
- Observation
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 58092-8 | Acylcarnitine newborn screen panel |
| 53262-2 | Carnitine newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Glutarilcarnitina+3-Hidroxidecanoilcarnitina/Butirilcarnitina + Isobutirilcarnitina (C4): Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Glutarilcarnitina (C5-DC) + 3-Hidroxidocanoilcarnitina (C10-OH) / Butirilcarnitina + Isobutirilcarnitina (C4): |
| fr-CA | French (Canada) | Glutarylcarnitine (C5-DC)+ 3-hydroxydécanoylcarnitine (C10-OH)/Butyrylcarnitine+Isobutyrylcarnitine (C4): |
| fr-FR | French (France) | Glutarylcarnitine (C5-DC)+3-hydroxydécanoylcarnitine (C10-OH)/butyrylcarnitine+Isobutyrylcarnitine (C4): |
| fr-BE | French (Belgium) | Glutarylcarnitine (C5-DC)+3-Hydroxydecanoylcarnitine (C10-OH)/Butyrylcarnitine+Isobutyrylcarnitine (C4): |
| it-IT | Italian (Italy) | Glutarilcarnitina (C5-DC)+3-Idrossidecanoilcarnitina (C10-OH)/Butirrilcarnitina+Isobutirrilcarnitina (C4): Synonyms: Chimica Punto nel tempo (episodio) Rapporto di sostanza Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | glutarylcarnitine (C5-DC) + 3-hydroxydecanoylcarnitine (C10-OH)/butyrylcarnitine + isobutyrylcarnitine (C4): |
| pt-BR | Portuguese (Brazil) | Glutarilcarnitina (C5-DC)+3-Hidroxidecanoilcarnitina (C10-OH)/Butirilcarnitina+Isobutirilcarnitina (C4): Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Глутарилкарнитин (C5-DC)+3-Гидроксидканоилкарнитин (C10-OH)/Бутирилкарнитин+Изобутирилкарнитин (C4): Synonyms: Количественный Кровь Кровь сухая капля Мольная доля; |
| tr-TR | Turkish (Turkey) | Glutarilkarnitin (C5-DC)+3-Hidroksidekanoilkarnitin (C10-OH)/Bütirilkarnitin+izobütirilkarnitin (C4): Synonyms: SubsOranı |
| zh-CN | Chinese (China) | 戊二酰肉碱 (C5-DC)+3-羟癸酰肉碱 (C10-OH)/丁酰肉碱+异丁酰肉碱 (C4): Synonyms: 3-羟癸酰肉碱（肉毒碱、 |
Example Units
| Unit | Source |
|---|---|
| {Ratio} | Example UCUM Units |
53184-8 Glutarylcarnitine (C5-DC)+3-Hydroxydecanoylcarnitine (C10-OH)/3-Hydroxyisovalerylcarnitine (C5-OH) [Molar ratio] in DBS
Term Description
Glutarylcarnitine+3-Hydroxydecanoylcarnitine/3-Hydroxyisovalerylcarnitine is a primary marker for Glutaric acidemia type I and Glutaric acidemia type II Secondary marker for Maternal glutaric acidemia type I.
Source: Regenstrief LOINC
Part Descriptions
LP66334-1 Glutarylcarnitine (C5-DC)+3-Hydroxydecanoylcarnitine (C10-OH)
Glutarylcarnitine+3-Hydroxydecanoylcarnitine is a primary marker for Glutaric acidemia type I and Glutaric acidemia type II. Secondary marker for Maternal glutaric acidemia type I.
Source: Regenstrief LOINC
LP70356-8 3-Hydroxyisovalerylcarnitine (C5-OH)
3-Hydroxyisovalerylcarnitine is a primary marker for 3-Methylcrotonyl-CoA carboxylase deficiency, Beta-Ketothiolase deficiency, Multiple carboxylase deficiency, 3-Hydroxy-3-methylglutaric aciduria, 2-Methyl-3-hydroxybutyric aciduria, Maternal 3-Methylcrotonyl-CoA carboxylase deficiency, and 2-Methylbutyrylglycinuria.
Source: Regenstrief LOINC
Observation Required in Panel
Conditional
Type of Entry
Question expects user entry - requires response [Q]
Fully-Specified Name
- Component
- Glutarylcarnitine (C5-DC)+3-Hydroxydecanoylcarnitine (C10-OH)/3-Hydroxyisovalerylcarnitine (C5-OH)
- Property
- SRto
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- Glut+3OHdecanoylcarn/C5OH DBS-sRto
- Display Name
- C5-DC+C10-OH/3-Hydroxyisovalerylcarnitine (C5-OH) (DBS) [Molar ratio]
- Consumer Name Alpha Get Info
- C5-DC+C10-OH/3-Hydroxyisovalerylcarnitine (C5-OH), Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.24
- Last Updated
- Version 2.73
- Order vs. Observation
- Both
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 58092-8 | Acylcarnitine newborn screen panel |
| 53262-2 | Carnitine newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Glutarilcarnitina+3-Hidroxidecanoilcarnitina/3-Hidroxiisovalerilcarnitina (C5-OH): Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Glutarilcarnitina (C5-DC) + 3-Hidroxidocanoilcarnitina (C10-OH) / 3-Hidroxiisovalerilcarnitina (C5-OH): |
| fr-CA | French (Canada) | Glutarylcarnitine (C5-DC)+ 3-hydroxydécanoylcarnitine (C10-OH)/3-hydroxyisovalérylcarnitine (C5-OH): |
| fr-FR | French (France) | Glutarylcarnitine (C5-DC)+3-hydroxydécanoylcarnitine (C10-OH)/3-hydroxyisovalérylcarnitine (C5-OH): |
| fr-BE | French (Belgium) | Glutarylcarnitine (C5-DC)+3-Hydroxydecanoylcarnitine (C10-OH)/3-hydroxyisovalérylcarnitine (C5-OH): |
| it-IT | Italian (Italy) | Glutarilcarnitina (C5-DC)+3-Idrossidecanoilcarnitina (C10-OH)/3-Idrossiisovalerilcarnitina (C5-OH): Synonyms: Chimica Punto nel tempo (episodio) Rapporto di sostanza Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | glutarylcarnitine (C5-DC) + 3-hydroxydecanoylcarnitine (C10-OH)/3-hydroxyisovalerylcarnitine (C5-OH): |
| pt-BR | Portuguese (Brazil) | Glutarilcarnitina (C5-DC)+3-Hidroxidecanoilcarnitina (C10-OH)/3-Hidroxisovalerilcarnitina (C5-OH): Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Глутарилкарнитин (C5-DC)+3-Гидроксидканоилкарнитин (C10-OH)/3-Гидроксиизовалерилкарнитин (C5-OH): Synonyms: Количественный Кровь Кровь сухая капля Мольная доля; |
| tr-TR | Turkish (Turkey) | Glutarilkarnitin (C5-DC)+3-Hidroksidekanoilkarnitin (C10-OH)/3-Hidroksiizovalerilkarnitin (C5-OH): Synonyms: SubsOranı |
| zh-CN | Chinese (China) | 戊二酰肉碱 (C5-DC)+3-羟癸酰肉碱 (C10-OH)/3-羟基异戊酰肉碱 (C5-OH): Synonyms: 3-羟基异戊酰肉碱（肉毒碱、 |
Example Units
| Unit | Source |
|---|---|
| {Ratio} | Example UCUM Units |
53185-5 Glutarylcarnitine (C5-DC)+3-Hydroxydecanoylcarnitine (C10-OH)/Octanoylcarnitine (C8) [Molar ratio] in DBS
Term Description
Glutarylcarnitine+3-Hydroxydecanoylcarnitine/Octanoylcarnitine is a primary marker for Very long-chain acyl-CoA dehydrogenase deficiency.
Source: Regenstrief LOINC
Part Descriptions
LP66334-1 Glutarylcarnitine (C5-DC)+3-Hydroxydecanoylcarnitine (C10-OH)
Glutarylcarnitine+3-Hydroxydecanoylcarnitine is a primary marker for Glutaric acidemia type I and Glutaric acidemia type II. Secondary marker for Maternal glutaric acidemia type I.
Source: Regenstrief LOINC
LP70166-1 Octanoylcarnitine (C8)
Octanoylcarnitine is a primary marker for Medium-chain acyl-CoA dehydrogenase deficiency, Glutaric acidemia type II and Medium-chain ketoacyl-CoA thiolase deficiency.
Source: Regenstrief LOINC
Observation Required in Panel
Conditional
Type of Entry
Question expects user entry - requires response [Q]
Fully-Specified Name
- Component
- Glutarylcarnitine (C5-DC)+3-Hydroxydecanoylcarnitine (C10-OH)/Octanoylcarnitine (C8)
- Property
- SRto
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- Glut+3OHdecanoylcarn/C8 DBS-sRto
- Display Name
- C5-DC+C10-OH/Octanoylcarnitine (C8) (DBS) [Molar ratio]
- Consumer Name Alpha Get Info
- C5-DC+C10-OH/Octanoylcarnitine (C8), Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.24
- Last Updated
- Version 2.73
- Order vs. Observation
- Both
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 58092-8 | Acylcarnitine newborn screen panel |
| 53262-2 | Carnitine newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Glutarilcarnitina+3-Hidroxidecanoilcarnitina/Octanoilcarnitina (C8): Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Glutarilcarnitina (C5-DC) + 3-hidroxidocanoilcarnitina (C10-OH) / octanoilcarnitina (C8): |
| fr-CA | French (Canada) | Glutarylcarnitine (C5-DC)+ 3-hydroxydécanoylcarnitine (C10-OH)/Octanoylcarnitine (C8): |
| fr-FR | French (France) | Glutarylcarnitine (C5-DC)+3-hydroxydécanoylcarnitine (C10-OH)/octanoylcarnitine (C8): |
| fr-BE | French (Belgium) | Glutarylcarnitine (C5-DC)+3-Hydroxydecanoylcarnitine (C10-OH)/Octanoylcarnitine (C8): |
| it-IT | Italian (Italy) | Glutarilcarnitina (C5-DC)+3-Idrossidecanoilcarnitina (C10-OH)/Octanoilcarnitina (C8): Synonyms: Chimica Punto nel tempo (episodio) Rapporto di sostanza Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | glutarylcarnitine (C5-DC) + 3-hydroxydecanoylcarnitine (C10-OH)/octanoylcarnitine (C8): |
| pt-BR | Portuguese (Brazil) | Glutarilcarnitina (C5-DC)+3-Hidroxidecanoilcarnitina (C10-OH)/Octanoilcarnitina (C8): Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Глутарилкарнитин (C5-DC)+3-Гидроксидканоилкарнитин (C10-OH)/Октаноилкарнитин (C8): Synonyms: Количественный Кровь Кровь сухая капля Мольная доля; |
| tr-TR | Turkish (Turkey) | Glutarilkarnitin (C5-DC)+3-Hidroksidekanoilkarnitin (C10-OH)/Oktanoilkarnitin (C8): Synonyms: SubsOranı |
| zh-CN | Chinese (China) | 戊二酰肉碱 (C5-DC)+3-羟癸酰肉碱 (C10-OH)/辛酰肉碱 (C8): Synonyms: 3-羟癸酰肉碱（肉毒碱、 |
Example Units
| Unit | Source |
|---|---|
| {Ratio} | Example UCUM Units |
53186-3 Glutarylcarnitine (C5-DC)+3-Hydroxydecanoylcarnitine (C10-OH)/Palmitoylcarnitine (C16) [Molar ratio] in DBS
Term Description
Glutarylcarnitine+3-Hydroxydecanoylcarnitine/Palmitoylcarnitine is a primary marker for Very long-chain acyl-CoA dehydrogenase deficiency. Secondary marker for Long-chain L-3-Hydroxy dehydrogenase deficiency, and Trifunctional protein deficiency.
Source: Regenstrief LOINC
Part Descriptions
LP66334-1 Glutarylcarnitine (C5-DC)+3-Hydroxydecanoylcarnitine (C10-OH)
Glutarylcarnitine+3-Hydroxydecanoylcarnitine is a primary marker for Glutaric acidemia type I and Glutaric acidemia type II. Secondary marker for Maternal glutaric acidemia type I.
Source: Regenstrief LOINC
LP70162-0 Palmitoylcarnitine (C16)
Palmitoylcarnitine is a primary marker for Very long-chain acyl-CoA dehydrogenase deficiency, Long-chain L-3-Hydroxy dehydrogenase deficiency, Trifunctional protein deficiency, Carnitine palmitoyltransferase I deficiency, Carnitine acylcarnitine translocase deficiency, and Carnitine palmitoyltransferase II deficiency. Secondary marker for Carnitine uptake defect.
Source: Regenstrief LOINC
Observation Required in Panel
Conditional
Type of Entry
Question expects user entry - requires response [Q]
Fully-Specified Name
- Component
- Glutarylcarnitine (C5-DC)+3-Hydroxydecanoylcarnitine (C10-OH)/Palmitoylcarnitine (C16)
- Property
- SRto
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- Glut+3OHdecanoylcarn/C16 DBS-sRto
- Display Name
- C5-DC+C10-OH/Palmitoylcarnitine (C16) (DBS) [Molar ratio]
- Consumer Name Alpha Get Info
- C5-DC+C10-OH/Palmitoylcarnitine (C16), Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.24
- Last Updated
- Version 2.73
- Order vs. Observation
- Both
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 58092-8 | Acylcarnitine newborn screen panel |
| 53262-2 | Carnitine newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Glutarilcarnitina+3-Hidroxidecanoilcarnitina/Palmitoilcarnitina (C16): Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Glutarilcarnitina (C5-DC) + 3-Hidroxidocanoilcarnitina (C10-OH) / Palmitoilcarnitina (C16): |
| fr-CA | French (Canada) | Glutarylcarnitine (C5-DC)+ 3-hydroxydécanoylcarnitine (C10-OH)/Palmitoylcarnitine (C16): |
| fr-FR | French (France) | Glutarylcarnitine (C5-DC)+3-hydroxydécanoylcarnitine (C10-OH)/palmitoylcarnitine (C16): |
| fr-BE | French (Belgium) | Glutarylcarnitine (C5-DC)+3-Hydroxydecanoylcarnitine (C10-OH)/Palmitoylcarnitine (C16): |
| it-IT | Italian (Italy) | Glutarilcarnitina (C5-DC)+3-Idrossidecanoilcarnitina (C10-OH)/Palmitoilcarnitina (C16): Synonyms: Chimica Punto nel tempo (episodio) Rapporto di sostanza Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | glutarylcarnitine (C5-DC) + 3-hydroxydecanoylcarnitine (C10-OH)/palmitoylcarnitine (C16): |
| pt-BR | Portuguese (Brazil) | Glutarilcarnitina (C5-DC)+3-Hidroxidecanoilcarnitina (C10-OH)/Palmitoilcarnitina (C16): Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Глутарилкарнитин (C5-DC)+3-Гидроксидканоилкарнитин (C10-OH)/Пальмитоилкарнитин (C16): Synonyms: Количественный Кровь Кровь сухая капля Мольная доля; |
| tr-TR | Turkish (Turkey) | Glutarilkarnitin (C5-DC)+3-Hidroksidekanoilkarnitin (C10-OH)/Palmitoilkarnitin (C16): Synonyms: SubsOranı |
| zh-CN | Chinese (China) | 戊二酰肉碱 (C5-DC)+3-羟癸酰肉碱 (C10-OH)/棕榈酰肉碱 (C16): Synonyms: 3-羟癸酰肉碱（肉毒碱、 |
Example Units
| Unit | Source |
|---|---|
| {Ratio} | Example UCUM Units |
45200-3 Dodecenoylcarnitine (C12:1) [Moles/volume] in DBS
Part Descriptions
LP19319-0 Dodecenoylcarnitine (C12:1)
Dodecenoylcarnitine is a primary marker for Very long-chain acyl-CoA dehydrogenase deficiency. Secondary marker for Carnitine acylcarnitine translocase deficiency, and Carnitine palmitoyltransferase II deficiency.
Source: Regenstrief LOINC
Observation Required in Panel
Conditional
Type of Entry
Question expects user entry - requires response [Q]
Fully-Specified Name
- Component
- Dodecenoylcarnitine (C12:1)
- Property
- SCnc
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- Dodecenoylcarn DBS-sCnc
- Display Name
- C12:1 (DBS) [Moles/Vol]
- Consumer Name Alpha Get Info
- C12:1, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.17
- Last Updated
- Version 2.73
- Order vs. Observation
- Both
- Common Test Rank Get Info
- 18829
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 58092-8 | Acylcarnitine newborn screen panel |
| 53262-2 | Carnitine newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Dodecenoilcarnitina (C12: Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Dodecenoilcarnitina (C12: |
| et-EE | Estonian (Estonia) | Dodekenoüülkarnitiin (C12: Synonyms: Aine kontsentratsioon Juhuslik Kvantitatiivne Veri |
| fr-CA | French (Canada) | Dodecenoylcarnitine (C12: |
| fr-FR | French (France) | Dodécènoylcarnitine (C12: |
| fr-BE | French (Belgium) | Dodecenoylcarnitine (C12: |
| it-IT | Italian (Italy) | Dodecenoilcarnitina (C12: Synonyms: Chimica Concentrazione di Sostanza Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | dodecenoylcarnitine (C12: |
| pt-BR | Portuguese (Brazil) | Dodecenoilcarnitina (C12: Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Додеценоилкарнитин (C12: Synonyms: Количественный Кровь Кровь сухая капля Молярность; |
| tr-TR | Turkish (Turkey) | Dodesenoilkarnitin (C12: |
| zh-CN | Chinese (China) | 十二烯酰肉碱 (C12: Synonyms: Ⅰ I 克分子浓度; |
Example Units
| Unit | Source |
|---|---|
| umol/L | Example UCUM Units |
45199-7 Dodecanoylcarnitine (C12) [Moles/volume] in DBS
Part Descriptions
LP19320-8 Dodecanoylcarnitine (C12)
Dodecanoylcarnitine is a primary marker for Very long-chain acyl-CoA dehydrogenase deficiency.
Source: Regenstrief Institute
Observation Required in Panel
Conditional
Type of Entry
Question expects user entry - requires response [Q]
Fully-Specified Name
- Component
- Dodecanoylcarnitine (C12)
- Property
- SCnc
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- Dodecanoylcarn DBS-sCnc
- Display Name
- C12 (DBS) [Moles/Vol]
- Consumer Name Alpha Get Info
- C12, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.17
- Last Updated
- Version 2.73
- Order vs. Observation
- Both
- Common Test Rank Get Info
- 18895
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 58092-8 | Acylcarnitine newborn screen panel |
| 53262-2 | Carnitine newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Dodecanoilcarnitina (C12): Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Dodecanoilcarnitina (C12): |
| et-EE | Estonian (Estonia) | Dodekanoüülkarnitiin (C12): Synonyms: Aine kontsentratsioon Juhuslik Kvantitatiivne Veri |
| fr-CA | French (Canada) | Dodecanoylcarnitine (C12): |
| fr-FR | French (France) | Dodécanoylcarnitine (C12): |
| fr-BE | French (Belgium) | Dodecanoylcarnitine (C12): |
| it-IT | Italian (Italy) | Dodecanoilcarnitina (C12): Synonyms: Chimica Concentrazione di Sostanza Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | dodecanoylcarnitine (C12): |
| pt-BR | Portuguese (Brazil) | Dodecanoilcarnitina (C12): Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Додеканоилкарнитин (C12): Synonyms: Количественный Кровь Кровь сухая капля Молярность; |
| tr-TR | Turkish (Turkey) | Dodekanoilkarnitin (C12): |
| zh-CN | Chinese (China) | 十二烷酰肉碱 (C12): Synonyms: 克分子浓度; |
Example Units
| Unit | Source |
|---|---|
| umol/L | Example UCUM Units |
53188-9 3-Hydroxydodecenoylcarnitine (C12:1-OH) [Moles/volume] in DBS
Part Descriptions
LP70088-7 3-Hydroxydodecenoylcarnitine (C12:1-OH)
3-Hydroxydodecenoylcarnitine is a primary marker for Very long-chain acyl-CoA dehydrogenase deficiency.
Source: Regenstrief LOINC
Observation Required in Panel
Conditional
Type of Entry
Question expects user entry - requires response [Q]
Fully-Specified Name
- Component
- 3-Hydroxydodecenoylcarnitine (C12:1-OH)
- Property
- SCnc
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- 3-OH-dodecenoylcarn DBS-sCnc
- Display Name
- C12:1-OH (DBS) [Moles/Vol]
- Consumer Name Alpha Get Info
- C12:1-OH, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.24
- Last Updated
- Version 2.73
- Order vs. Observation
- Both
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 58092-8 | Acylcarnitine newborn screen panel |
| 53262-2 | Carnitine newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | 3-Hidroxidodecenoilcarnitina (C12: Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | 3-hidroxidodecenoilcarnitina (C12: |
| et-EE | Estonian (Estonia) | 3-hüdroksüdodekenoüülkarnitiin (C12: Synonyms: Aine kontsentratsioon Juhuslik Kvantitatiivne Veri |
| fr-CA | French (Canada) | 3-hydroxydodécenoylcarnitine (C12: |
| fr-FR | French (France) | 3-hydroxydodécènoylcarnitine (C12: |
| fr-BE | French (Belgium) | 3-Hydroxydodécenoylcarnitine (C12: |
| it-IT | Italian (Italy) | 3-Idrossidodecenoilcarnitina (C12: Synonyms: Chimica Concentrazione di Sostanza Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | 3-hydroxydodecenoylcarnitine (C12: |
| pt-BR | Portuguese (Brazil) | 3-Hidroxidodecenoilcarnitina (C12: Synonyms: ; |
| ru-RU | Russian (Russian Federation) | 3-Гидроксидодеценоилкарнитин (C12: Synonyms: Количественный Кровь Кровь сухая капля Молярность; |
| tr-TR | Turkish (Turkey) | 3-Hidroksidodecenoylkarnitin (C12: |
| zh-CN | Chinese (China) | 3-羟基十二烯酸基肉碱 (C12: Synonyms: Ⅰ 3-羟基十二烯酸基肉碱（肉毒碱、 |
Example Units
| Unit | Source |
|---|---|
| umol/L | Example UCUM Units |
53189-7 3-Hydroxydodecanoylcarnitine (C12-OH) [Moles/volume] in DBS
Part Descriptions
LP28984-0 3-Hydroxydodecanoylcarnitine (C12-OH)
3-Hydroxydodecanoylcarnitine is a secondary marker for Long-chain L-3-Hydroxy dehydrogenase deficiency, and Trifunctional protein deficiency.
Source: Regenstrief LOINC
Observation Required in Panel
Conditional
Type of Entry
Question expects user entry - requires response [Q]
Fully-Specified Name
- Component
- 3-Hydroxydodecanoylcarnitine (C12-OH)
- Property
- SCnc
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- 3OH-Dodecanoylcarn DBS-sCnc
- Display Name
- C12-OH (DBS) [Moles/Vol]
- Consumer Name Alpha Get Info
- C12-OH, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.24
- Last Updated
- Version 2.73
- Order vs. Observation
- Both
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 58092-8 | Acylcarnitine newborn screen panel |
| 53262-2 | Carnitine newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | 3-hidroxidodecanoilcarnitina (C12-OH): Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | 3-hidroxidodecanoilcarnitina (C12-OH): |
| et-EE | Estonian (Estonia) | 3-hüdroksüdodekanoüülkarnitiin (C12-OH): Synonyms: Aine kontsentratsioon Juhuslik Kvantitatiivne Veri |
| fr-CA | French (Canada) | 3-hydroxydodécanoylcarnitine: |
| fr-FR | French (France) | 3-hydroxydodécanoylcarnitine (C12-OH): |
| fr-BE | French (Belgium) | 3-hydroxydodécanoylcarnitine (C12: |
| it-IT | Italian (Italy) | 3-Idrossidodecanoilcarnitina (C12-OH): Synonyms: Chimica Concentrazione di Sostanza Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | 3-hydroxydodecanoylcarnitine (C12-OH): |
| pt-BR | Portuguese (Brazil) | 3-Hidroxidodecanoilcarnitina (C12-OH): Synonyms: ; |
| ru-RU | Russian (Russian Federation) | 3-Гидроксидодеканоилкарнитин (C12-OH): Synonyms: Количественный Кровь Кровь сухая капля Молярность; |
| tr-TR | Turkish (Turkey) | 3-Hidroksidodekanoylkarnitin (C12-OH): |
| zh-CN | Chinese (China) | 3-羟基十二烷酰肉碱 (C12-OH): Synonyms: 3-羟基十二烷酰肉碱（肉毒碱、 |
Example Units
| Unit | Source |
|---|---|
| umol/L | Example UCUM Units |
53190-5 Tetradecadienoylcarnitine (C14:2) [Moles/volume] in DBS
Part Descriptions
LP19321-6 Tetradecadienoylcarnitine (C14:2)
Tetradecadienoylcarnitine is a primary marker for Glutaric acidemia type I. Secondary marker for Maternal glutaric acidemia type I.
Source: Regenstrief LOINC
Observation Required in Panel
Conditional
Type of Entry
Question expects user entry - requires response [Q]
Fully-Specified Name
- Component
- Tetradecadienoylcarnitine (C14:2)
- Property
- SCnc
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- Tdecadienoylcarn DBS-sCnc
- Display Name
- C14:2 (DBS) [Moles/Vol]
- Consumer Name Alpha Get Info
- C14:2, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.24
- Last Updated
- Version 2.73
- Order vs. Observation
- Both
- Common Test Rank Get Info
- 17564
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 58092-8 | Acylcarnitine newborn screen panel |
| 53262-2 | Carnitine newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Tetradecadienoilcarnitina (C14: Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Tetradecadienoilcarnitina (C14: |
| et-EE | Estonian (Estonia) | Tetradekadienoüülkarnitiin (C14: Synonyms: Aine kontsentratsioon Juhuslik Kvantitatiivne Veri |
| fr-CA | French (Canada) | Tétradecadienoylcarnitine (C14: |
| fr-FR | French (France) | Tétradécadiénoylcarnitine (C14: |
| fr-BE | French (Belgium) | Tétradecadienoylcarnitine (C14: |
| it-IT | Italian (Italy) | Tetradecadienoilcarnitina (C14: Synonyms: Chimica Concentrazione di Sostanza Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | tetradecadienoylcarnitine (C14: |
| pt-BR | Portuguese (Brazil) | Tetradecadienoilcarnitina (C14: Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Тетрадекадиеноилкарнитин (C14: Synonyms: Количественный Кровь Кровь сухая капля Молярность; |
| tr-TR | Turkish (Turkey) | Tetradekadienoilkarnitin (C14: |
| zh-CN | Chinese (China) | 十四烷二烯酰肉碱 (C14: Synonyms: Ⅱ II 克分子浓度; |
Example Units
| Unit | Source |
|---|---|
| umol/L | Example UCUM Units |
53191-3 Tetradecenoylcarnitine (C14:1) [Moles/volume] in DBS
Part Descriptions
LP19322-4 Tetradecenoylcarnitine (C14:1)
Tetradecenoylcarnitine is a primary marker for Glutaric acidemia type I and Maternal glutaric acidemia type I.
Source: Regenstrief LOINC
Observation Required in Panel
Conditional
Type of Entry
Question expects user entry - requires response [Q]
Fully-Specified Name
- Component
- Tetradecenoylcarnitine (C14:1)
- Property
- SCnc
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- Tdecenoylcarn DBS-sCnc
- Display Name
- C14:1 (DBS) [Moles/Vol]
- Consumer Name Alpha Get Info
- C14:1, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.24
- Last Updated
- Version 2.73
- Order vs. Observation
- Both
- Common Test Rank Get Info
- 18166
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 58092-8 | Acylcarnitine newborn screen panel |
| 53262-2 | Carnitine newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Tetradecenoilcarnitina (C14: Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Tetradecenoilcarnitina (C14: |
| et-EE | Estonian (Estonia) | Tetradekenoüülkarnitiin (C14: Synonyms: Aine kontsentratsioon Juhuslik Kvantitatiivne Veri |
| fr-CA | French (Canada) | Tétradécenoylcarnitine (C14: |
| fr-FR | French (France) | Tétradécènoylcarnitine (C14: |
| fr-BE | French (Belgium) | Tétradécenoylcarnitine (C14: |
| it-IT | Italian (Italy) | Tetradecenoilcarnitina (C14: Synonyms: Chimica Concentrazione di Sostanza Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | tetradecenoylcarnitine (C14: |
| pt-BR | Portuguese (Brazil) | Tetradecenoilcarnitina (C14: Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Тетрадеценоилкарнитин (C14: Synonyms: Количественный Кровь Кровь сухая капля Молярность; |
| tr-TR | Turkish (Turkey) | Tetradecenoilkarnitin (C14: |
| zh-CN | Chinese (China) | 十四烯酰肉碱 (C14: Synonyms: Ⅰ I 克分子浓度; |
Example Units
| Unit | Source |
|---|---|
| umol/L | Example UCUM Units |
53192-1 Tetradecanoylcarnitine (C14) [Moles/volume] in DBS
Part Descriptions
LP29117-6 Tetradecanoylcarnitine (C14)
Tetradecanoylcarnitine is a secondary marker for Very long-chain acyl-CoA dehydrogenase deficiency.
Source: Regenstrief Institute
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Tetradecanoylcarnitine (C14)
- Property
- SCnc
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- Tdecanoylcarn DBS-sCnc
- Display Name
- C14 (DBS) [Moles/Vol]
- Consumer Name Alpha Get Info
- C14, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.24
- Last Updated
- Version 2.73
- Order vs. Observation
- Both
- Common Test Rank Get Info
- 11288
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 58092-8 | Acylcarnitine newborn screen panel |
| 53262-2 | Carnitine newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Tetradecanoilcarnitina (C14): Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Tetradecanoilcarnitina (C14): |
| et-EE | Estonian (Estonia) | Tetradekanoüülkarnitiin (C14): Synonyms: Aine kontsentratsioon Juhuslik Kvantitatiivne Veri |
| fr-CA | French (Canada) | Tétradécanoylcarnitine (C14): |
| fr-FR | French (France) | Tétradécanoylcarnitine (C14): |
| fr-BE | French (Belgium) | Tétradécanoylcarnitine (C14): |
| it-IT | Italian (Italy) | Tetradecanoilcarnitina (C14): Synonyms: Chimica Concentrazione di Sostanza Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | tetradecanoylcarnitine (C14): |
| pt-BR | Portuguese (Brazil) | Tetradecanoilcarnitina (C14): Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Тетрадеканоилкарнитин (C14): Synonyms: Количественный Кровь Кровь сухая капля Молярность; |
| tr-TR | Turkish (Turkey) | Tetradekanoilkarnitin (C14): |
| zh-CN | Chinese (China) | 十四烷酰肉碱 (C14): Synonyms: 克分子浓度; |
Example Units
| Unit | Source |
|---|---|
| umol/L | Example UCUM Units |
53193-9 Tetradecenoylcarnitine (C14:1)/Acetylcarnitine (C2) [Molar ratio] in DBS
Term Description
Tetradecenoylcarnitine/Acetylcarnitine is a secondary marker for Very long-chain acyl-CoA dehydrogenase deficiency.
Source: Regenstrief LOINC
Part Descriptions
LP19322-4 Tetradecenoylcarnitine (C14:1)
Tetradecenoylcarnitine is a primary marker for Glutaric acidemia type I and Maternal glutaric acidemia type I.
Source: Regenstrief LOINC
LP70165-3 Acetylcarnitine (C2)
Acetyl-L-carnitine or ALCAR, is an acetylated form of L-carnitine. ALCAR has been claimed to be superior to normal L-carnitine in terms of bioavailability. However, at least one study has suggested that the acetylated form may have a lower oral bioavailability.
Copyright Text is available under the Creative Commons Attribution/Share-Alike License. See http://creativecommons.org/licenses/by-sa/3.0/ for details.
Source: Wikipedia, Acetylcarnitine
Observation Required in Panel
Conditional
Type of Entry
Question expects user entry - requires response [Q]
Fully-Specified Name
- Component
- Tetradecenoylcarnitine (C14:1)/Acetylcarnitine (C2)
- Property
- SRto
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- Tdecenoylcarn/C2 DBS-sRto
- Display Name
- C14:1/Acetylcarnitine (C2) (DBS) [Molar ratio]
- Consumer Name Alpha Get Info
- C14:1/Acetylcarnitine (C2), Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.24
- Last Updated
- Version 2.73
- Order vs. Observation
- Both
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 58092-8 | Acylcarnitine newborn screen panel |
| 53262-2 | Carnitine newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Tetradecenoilcarnitina (C14: Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Tetradecenoilcarnitina (C14: |
| fr-CA | French (Canada) | Tétradécenoylcarnitine (C14: |
| fr-FR | French (France) | Tétradécènoylcarnitine (C14: |
| fr-BE | French (Belgium) | Tétradécenoylcarnitine (C14: |
| it-IT | Italian (Italy) | Tetradecenoilcarnitina (C14: Synonyms: Chimica Punto nel tempo (episodio) Rapporto di sostanza Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | tetradecenoylcarnitine (C14: |
| pt-BR | Portuguese (Brazil) | Tetradecenoilcarnitina (C14: Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Тетрадеценоилкарнитин (C14: Synonyms: Количественный Кровь Кровь сухая капля Мольная доля; |
| tr-TR | Turkish (Turkey) | Tetradecenoilkarnitin (C14: Synonyms: SubsOranı |
| zh-CN | Chinese (China) | 十四烯酰肉碱 (C14: Synonyms: Ⅰ I 乙酰肉碱（肉毒碱、 |
Example Units
| Unit | Source |
|---|---|
| {Ratio} | Example UCUM Units |
53194-7 Tetradecenoylcarnitine (C14:1)/Dodecenoylcarnitine (C12:1) [Molar ratio] in DBS
Term Description
Tetradecenoylcarnitine/Dodecenoylcarnitine is a primary marker for 3-Hydroxy-3-methylglutaric aciduria.
Source: Regenstrief LOINC
Part Descriptions
LP19322-4 Tetradecenoylcarnitine (C14:1)
Tetradecenoylcarnitine is a primary marker for Glutaric acidemia type I and Maternal glutaric acidemia type I.
Source: Regenstrief LOINC
LP70355-0 Dodecenoylcarnitine (C12:1)
Dodecenoylcarnitine is a primary marker for Very long-chain acyl-CoA dehydrogenase deficiency. Secondary marker for Carnitine acylcarnitine translocase deficiency, and Carnitine palmitoyltransferase II deficiency.
Source: Regenstrief LOINC
Observation Required in Panel
Conditional
Type of Entry
Question expects user entry - requires response [Q]
Fully-Specified Name
- Component
- Tetradecenoylcarnitine (C14:1)/Dodecenoylcarnitine (C12:1)
- Property
- SRto
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- Tdecenoylcarn/C12:1 DBS-sRto
- Display Name
- C14:1/Dodecenoylcarnitine (C12:1) (DBS) [Molar ratio]
- Consumer Name Alpha Get Info
- C14:1/Dodecenoylcarnitine (C12:1), Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.24
- Last Updated
- Version 2.73
- Order vs. Observation
- Both
- Common Test Rank Get Info
- 18649
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 58092-8 | Acylcarnitine newborn screen panel |
| 53262-2 | Carnitine newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Tetradecenoilcarnitina (C14: Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Tetradecenoilcarnitina (C14: |
| fr-CA | French (Canada) | Tétradécenoylcarnitine (C14: |
| fr-FR | French (France) | Tétradécènoylcarnitine (C14: |
| fr-BE | French (Belgium) | Tétradécenoylcarnitine (C14: |
| it-IT | Italian (Italy) | Tetradecenoilcarnitina (C14: Synonyms: Chimica Punto nel tempo (episodio) Rapporto di sostanza Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | tetradecenoylcarnitine (C14: |
| pt-BR | Portuguese (Brazil) | Tetradecenoilcarnitina (C14: Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Тетрадеценоилкарнитин (C14: Synonyms: Количественный Кровь Кровь сухая капля Мольная доля; |
| tr-TR | Turkish (Turkey) | Tetradecenoilkarnitin (C14: Synonyms: SubsOranı |
| zh-CN | Chinese (China) | 十四烯酰肉碱 (C14: Synonyms: Ⅰ I 全血斑点(滤纸); |
Example Units
| Unit | Source |
|---|---|
| {Ratio} | Example UCUM Units |
53195-4 Tetradecenoylcarnitine (C14:1)/Palmitoylcarnitine (C16) [Molar ratio] in DBS
Term Description
Tetradecenoylcarnitine/Palmitoylcarnitine is a secondary marker for Long-chain L-3-Hydroxy dehydrogenase deficiency, and Trifunctional protein deficiency.
Source: Regenstrief LOINC
Part Descriptions
LP19322-4 Tetradecenoylcarnitine (C14:1)
Tetradecenoylcarnitine is a primary marker for Glutaric acidemia type I and Maternal glutaric acidemia type I.
Source: Regenstrief LOINC
LP70162-0 Palmitoylcarnitine (C16)
Palmitoylcarnitine is a primary marker for Very long-chain acyl-CoA dehydrogenase deficiency, Long-chain L-3-Hydroxy dehydrogenase deficiency, Trifunctional protein deficiency, Carnitine palmitoyltransferase I deficiency, Carnitine acylcarnitine translocase deficiency, and Carnitine palmitoyltransferase II deficiency. Secondary marker for Carnitine uptake defect.
Source: Regenstrief LOINC
Observation Required in Panel
Conditional
Type of Entry
Question expects user entry - requires response [Q]
Fully-Specified Name
- Component
- Tetradecenoylcarnitine (C14:1)/Palmitoylcarnitine (C16)
- Property
- SRto
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- Tdecenoylcarn/C16 DBS-sRto
- Display Name
- C14:1/Palmitoylcarnitine (C16) (DBS) [Molar ratio]
- Consumer Name Alpha Get Info
- C14:1/Palmitoylcarnitine (C16), Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.24
- Last Updated
- Version 2.73
- Order vs. Observation
- Both
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 58092-8 | Acylcarnitine newborn screen panel |
| 53262-2 | Carnitine newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Tetradecenoilcarnitina (C14: Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Tetradecenoilcarnitina (C14: |
| fr-CA | French (Canada) | Tétradécenoylcarnitine (C14: |
| fr-FR | French (France) | Tétradécènoylcarnitine (C14: |
| fr-BE | French (Belgium) | Tétradécenoylcarnitine (C14: |
| it-IT | Italian (Italy) | Tetradecenoilcarnitina (C14: Synonyms: Chimica Punto nel tempo (episodio) Rapporto di sostanza Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | tetradecenoylcarnitine (C14: |
| pt-BR | Portuguese (Brazil) | Propionilcarnitina (C3)/Palmitoilcarnitina (C16): Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Тетрадеценоилкарнитин (C14: Synonyms: Количественный Кровь Кровь сухая капля Мольная доля; |
| tr-TR | Turkish (Turkey) | Tetradecenoilkarnitin (C14: Synonyms: SubsOranı |
| zh-CN | Chinese (China) | 十四烯酰肉碱 (C14: Synonyms: Ⅰ I 全血斑点(滤纸); |
Example Units
| Unit | Source |
|---|---|
| {Ratio} | Example UCUM Units |
70159-9 Tetradecenoylcarnitine (C14:1)/Tetradecanoylcarnitine (C14) [Molar ratio] in DBS
Part Descriptions
LP19322-4 Tetradecenoylcarnitine (C14:1)
Tetradecenoylcarnitine is a primary marker for Glutaric acidemia type I and Maternal glutaric acidemia type I.
Source: Regenstrief LOINC
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Tetradecenoylcarnitine (C14:1)/Tetradecanoylcarnitine (C14)
- Property
- SRto
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- Tdecenoylcarn/C14 DBS-sRto
- Display Name
- C14:1/Tetradecanoylcarnitine (C14) (DBS) [Molar ratio]
- Consumer Name Alpha Get Info
- C14:1/Tetradecanoylcarnitine (C14), Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.40
- Last Updated
- Version 2.73
- Order vs. Observation
- Both
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 58092-8 | Acylcarnitine newborn screen panel |
| 53262-2 | Carnitine newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Tetradecenoilcarnitina (C14: Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Tetradecenoilcarnitina (C14: |
| fr-CA | French (Canada) | Tétradécenoylcarnitine (C14: |
| fr-FR | French (France) | Tétradécènoylcarnitine (C14: |
| it-IT | Italian (Italy) | Tetradecenoilcarnitina (C14: Synonyms: Chimica Punto nel tempo (episodio) Rapporto di sostanza Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | tetradecenoylcarnitine (C14: |
| pt-BR | Portuguese (Brazil) | Tetradecenoilcarnitine (C14: |
| ru-RU | Russian (Russian Federation) | Тетрадеценоилкарнитин (C14: Synonyms: Количественный Кровь Кровь сухая капля Мольная доля; |
| tr-TR | Turkish (Turkey) | Tetradecenoilkarnitin (C14: Synonyms: SubsOranı |
| zh-CN | Chinese (China) | 十四烯酰肉碱 (C14: Synonyms: Ⅰ I 全血斑点(滤纸); |
Example Units
| Unit | Source |
|---|---|
| {ratio} | Example UCUM Units |
53196-2 3-Hydroxytetradecadienoylcarnitine (C14:2-OH) [Moles/volume] in DBS
Observation Required in Panel
Conditional
Type of Entry
Question expects user entry - requires response [Q]
Fully-Specified Name
- Component
- 3-Hydroxytetradecadienoylcarnitine (C14:2-OH)
- Property
- SCnc
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- 3OH-Tdecadienoylcar DBS-sCnc
- Display Name
- 3-Hydroxytetradecadienoylcarnitine (C14:2-OH) (DBS) [Moles/Vol]
- Consumer Name Alpha Get Info
- 3-Hydroxytetradecadienoylcarnitine (C14:2-OH), Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.24
- Last Updated
- Version 2.73
- Order vs. Observation
- Both
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 58092-8 | Acylcarnitine newborn screen panel |
| 53262-2 | Carnitine newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | 3-Hidroxitetradecadienoilcarnitina (C14: Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | 3-hidroxitetradecadienoilcarnitina (C14: |
| et-EE | Estonian (Estonia) | 3-hüdroksütetradekadieenoüülkarnitiin (C14: Synonyms: Aine kontsentratsioon Juhuslik Kvantitatiivne Veri |
| fr-CA | French (Canada) | 3-hydroxytetradecadienoylcarnitine (C14: |
| fr-FR | French (France) | 3-hydroxytétradécadiénoylcarnitine (C14: |
| fr-BE | French (Belgium) | 3-Hydroxytetradecadienoylcarnitine (C14: |
| it-IT | Italian (Italy) | 3-Idrossitetradecadienoilcarnitina (C14: Synonyms: Chimica Concentrazione di Sostanza Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | 3-hydroxytetradecadienoylcarnitine (C14: |
| pt-BR | Portuguese (Brazil) | 3-Hidroxitetradecadienoilcarnitina (C14: Synonyms: ; |
| ru-RU | Russian (Russian Federation) | 3-Гидрокситетрадекадиеноилкарнитин (C14: Synonyms: Количественный Кровь Кровь сухая капля Молярность; |
| tr-TR | Turkish (Turkey) | 3-Hidroksitetradekadienoilkarnitin (C14: |
| zh-CN | Chinese (China) | 3-羟基十四烷二烯酰肉碱 (C14: Synonyms: Ⅱ 3-羟基十四烷二烯酰肉碱（肉毒碱、 |
Example Units
| Unit | Source |
|---|---|
| umol/L | Example UCUM Units |
53197-0 3-Hydroxytetradecenoylcarnitine (C14:1-OH) [Moles/volume] in DBS
Observation Required in Panel
Conditional
Type of Entry
Question expects user entry - requires response [Q]
Fully-Specified Name
- Component
- 3-Hydroxytetradecenoylcarnitine (C14:1-OH)
- Property
- SCnc
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- 3OH-Tdecenoylcarn DBS-sCnc
- Display Name
- 3-Hydroxytetradecenoylcarnitine (C14:1-OH) (DBS) [Moles/Vol]
- Consumer Name Alpha Get Info
- 3-Hydroxytetradecenoylcarnitine (C14:1-OH), Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.24
- Last Updated
- Version 2.73
- Order vs. Observation
- Both
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 58092-8 | Acylcarnitine newborn screen panel |
| 53262-2 | Carnitine newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | 3-Hidroxitetradecenoilcarnitina (C14: Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | 3-hidroxitetradecenoilcarnitina (C14: |
| et-EE | Estonian (Estonia) | 3-hüdroksütetradekenoüülkarnitiin (C14: Synonyms: Aine kontsentratsioon Juhuslik Kvantitatiivne Veri |
| fr-CA | French (Canada) | 3-hydroxytetradecenoylcarnitine (C14: |
| fr-FR | French (France) | 3-hydroxytétradécènoylcarnitine (C14: |
| fr-BE | French (Belgium) | 3-Hydroxytetradecenoylcarnitine (C14: |
| it-IT | Italian (Italy) | 3-Idrossitetradecenoilcarnitina (C14: Synonyms: Chimica Concentrazione di Sostanza Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | 3-hydroxytetradecenoylcarnitine (C14: |
| pt-BR | Portuguese (Brazil) | 3-Hidroxitetradecenoilcarnitina (C14: Synonyms: ; |
| ru-RU | Russian (Russian Federation) | 3-Гидрокситетрадеценоилкарнитин (C14: Synonyms: Количественный Кровь Кровь сухая капля Молярность; |
| tr-TR | Turkish (Turkey) | 3-Hidroksitetradekenoylkarnitin (C14: |
| zh-CN | Chinese (China) | 3-羟基十四烯酰肉碱 (C14: Synonyms: Ⅰ 3-羟基十四烯酰肉碱（肉毒碱、 |
Example Units
| Unit | Source |
|---|---|
| umol/L | Example UCUM Units |
50281-5 3-Hydroxytetradecanoylcarnitine (C14-OH) [Moles/volume] in DBS
Observation Required in Panel
Conditional
Type of Entry
Question expects user entry - requires response [Q]
Fully-Specified Name
- Component
- 3-Hydroxytetradecanoylcarnitine (C14-OH)
- Property
- SCnc
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- 3OH-Tdecanoylcarn DBS-sCnc
- Display Name
- C14-OH (DBS) [Moles/Vol]
- Consumer Name Alpha Get Info
- C14-OH, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.22
- Last Updated
- Version 2.73
- Order vs. Observation
- Both
- Common Test Rank Get Info
- 18760
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 58092-8 | Acylcarnitine newborn screen panel |
| 53262-2 | Carnitine newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | 3-hidroxitetradecanoilcarnitina (C14-OH): Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | 3-hidroxitetradecanoilcarnitina (C14-OH): |
| et-EE | Estonian (Estonia) | 3-hüdroksütetradekanoüülkarnitiin (C14-OH): Synonyms: Aine kontsentratsioon Juhuslik Kvantitatiivne Veri |
| fr-CA | French (Canada) | 3-hydroxytétradécanoylcarnitine: |
| fr-FR | French (France) | 3-hydroxytétradécanoylcarnitine (C14-OH): |
| fr-BE | French (Belgium) | 3-hydroxytétradécanoylcarnitine (C14-OH): |
| it-IT | Italian (Italy) | 3-Idrossitetradecanoilcarnitina (C14-OH): Synonyms: Chimica Concentrazione di Sostanza Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | 3-hydroxytetradecanoylcarnitine (C14-OH): |
| pt-BR | Portuguese (Brazil) | 3-Hidroxitetradecanoilcarnitina (C14-OH): Synonyms: ; |
| ru-RU | Russian (Russian Federation) | 3-Гидрокситетрадеканоилкарнитин (C14-OH): Synonyms: Количественный Кровь Кровь сухая капля Молярность; |
| tr-TR | Turkish (Turkey) | 3-Hidroksitetradekenoylkarnitin (C14-OH): |
| zh-CN | Chinese (China) | 3-羟基十四烷酰肉碱 (C14-OH): Synonyms: 3-羟基十四烷酰肉碱（肉毒碱、 |
Example Units
| Unit | Source |
|---|---|
| umol/L | Example UCUM Units |
53198-8 Palmitoleylcarnitine (C16:1) [Moles/volume] in DBS
Part Descriptions
LP29060-8 Palmitoleylcarnitine (C16:1)
Palmitoleylcarnitine is a secondary marker for Very long-chain acyl-CoA dehydrogenase deficiency, Long-chain L-3-Hydroxy dehydrogenase deficiency, Trifunctional protein deficiency, Carnitine acylcarnitine translocase deficiency, and Carnitine palmitoyltransferase II deficiency.
Source: Regenstrief LOINC
Observation Required in Panel
Conditional
Type of Entry
Question expects user entry - requires response [Q]
Fully-Specified Name
- Component
- Palmitoleylcarnitine (C16:1)
- Property
- SCnc
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- Palmitoleylcarn DBS-sCnc
- Display Name
- C16:1 (DBS) [Moles/Vol]
- Consumer Name Alpha Get Info
- C16:1, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.24
- Last Updated
- Version 2.73
- Order vs. Observation
- Both
- Common Test Rank Get Info
- 17507
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 58092-8 | Acylcarnitine newborn screen panel |
| 53262-2 | Carnitine newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Palmitoleilcarnitina (C16: Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Palmitoleilcarnitina (C16: |
| et-EE | Estonian (Estonia) | Palmitoleüülkarnitiin (C16: Synonyms: Aine kontsentratsioon Juhuslik Kvantitatiivne Veri |
| fr-CA | French (Canada) | Palmitoleylcarnitine (C16: |
| fr-FR | French (France) | Palmitoléylcarnitine (C16: |
| fr-BE | French (Belgium) | Palmitoleylcarnitine (C16: |
| it-IT | Italian (Italy) | Palmitoleilcarnitina (C16: Synonyms: Chimica Concentrazione di Sostanza Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | palmitoleylcarnitine (C16: |
| pt-BR | Portuguese (Brazil) | Palmitoleilcarnitina (C16: Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Пальмитоилкарнитин (C16: Synonyms: Количественный Кровь Кровь сухая капля Молярность; |
| tr-TR | Turkish (Turkey) | Palmitoleilkarnitin (C16: |
| zh-CN | Chinese (China) | 棕榈烯酰肉碱 (C16: Synonyms: Ⅰ I 克分子浓度; |
Example Units
| Unit | Source |
|---|---|
| umol/L | Example UCUM Units |
53199-6 Palmitoylcarnitine (C16) [Moles/volume] in DBS
Part Descriptions
LP19325-7 Palmitoylcarnitine (C16)
Palmitoylcarnitine is a primary marker for Very long-chain acyl-CoA dehydrogenase deficiency, Long-chain L-3-Hydroxy dehydrogenase deficiency, Trifunctional protein deficiency, Carnitine palmitoyltransferase I deficiency, Carnitine acylcarnitine translocase deficiency, and Carnitine palmitoyltransferase II deficiency. Secondary marker for Carnitine uptake defect.
Source: Regenstrief LOINC
Observation Required in Panel
Conditional
Type of Entry
Question expects user entry - requires response [Q]
Fully-Specified Name
- Component
- Palmitoylcarnitine (C16)
- Property
- SCnc
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- Palmitoylcarn DBS-sCnc
- Display Name
- C16 (DBS) [Moles/Vol]
- Consumer Name Alpha Get Info
- C16, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.24
- Last Updated
- Version 2.73
- Order vs. Observation
- Both
- Common Test Rank Get Info
- 19433
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 58092-8 | Acylcarnitine newborn screen panel |
| 53262-2 | Carnitine newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Palmitoilcarnitina (C16): Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Palmitoilcarnitina (C16): |
| et-EE | Estonian (Estonia) | Palmitoüülkarnitiin (C16): Synonyms: Aine kontsentratsioon Juhuslik Kvantitatiivne Veri |
| fr-CA | French (Canada) | Palmitoylcarnitine (C16): |
| fr-FR | French (France) | Palmitoylcarnitine (C16): |
| fr-BE | French (Belgium) | Palmitoylcarnitine (C16): |
| it-IT | Italian (Italy) | Palmitoilcarnitina (C16): Synonyms: Chimica Concentrazione di Sostanza Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | palmitoylcarnitine (C16): |
| pt-BR | Portuguese (Brazil) | Palmitoilcarnitina (C16): Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Пальмитоилкарнитин (C16): Synonyms: Количественный Кровь Кровь сухая капля Молярность; |
| tr-TR | Turkish (Turkey) | Palmitoilkarnitin (C16): |
| zh-CN | Chinese (China) | 棕榈酰肉碱 (C16): Synonyms: 克分子浓度; |
Example Units
| Unit | Source |
|---|---|
| umol/L | Example UCUM Units |
50121-3 3-Hydroxypalmitoleylcarnitine (C16:1-OH) [Moles/volume] in DBS
Part Descriptions
LP28986-5 3-Hydroxypalmitoleylcarnitine (C16:1-OH)
3-Hydroxypalmitoleylcarnitine is a primary marker for Long-chain L-3-Hydroxy dehydrogenase deficiency, and Trifunctional protein deficiency.
Source: Regenstrief LOINC
Observation Required in Panel
Conditional
Type of Entry
Question expects user entry - requires response [Q]
Fully-Specified Name
- Component
- 3-Hydroxypalmitoleylcarnitine (C16:1-OH)
- Property
- SCnc
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- 3OH-Palmitoleylcarn DBS-sCnc
- Display Name
- C16:1-OH (DBS) [Moles/Vol]
- Consumer Name Alpha Get Info
- C16:1-OH, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.22
- Last Updated
- Version 2.73
- Order vs. Observation
- Both
- Common Test Rank Get Info
- 17957
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 58092-8 | Acylcarnitine newborn screen panel |
| 53262-2 | Carnitine newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | 3-hidroxipalmitoleilcarnitina (C16: Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | 3-hidroxipamitoleilcarnitina (C16: |
| et-EE | Estonian (Estonia) | 3-hüdroksüpalmitoleüülkarnitiin (C16: Synonyms: Aine kontsentratsioon Juhuslik Kvantitatiivne Veri |
| fr-CA | French (Canada) | 3-hydroxypalmitoleylcarnitine: |
| fr-FR | French (France) | 3-hydroxypalmitoléylcarnitine (C16: |
| fr-BE | French (Belgium) | 3-hydroxypalmitoleylcarnitine (C16: |
| it-IT | Italian (Italy) | 3-Idrossipalmitoleilcarnitina (C16: Synonyms: Chimica Concentrazione di Sostanza Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | 3-hydroxypalmitoleylcarnitine (C16: |
| pt-BR | Portuguese (Brazil) | 3-Hidroxipalmitoleilcarnitina (C16: Synonyms: ; |
| ru-RU | Russian (Russian Federation) | 3-Гидроксипальмитолеилкарнитин (C16: Synonyms: Количественный Кровь Кровь сухая капля Молярность; |
| tr-TR | Turkish (Turkey) | 3-Hidroksipalmitoleilkarnitin (C16: |
| zh-CN | Chinese (China) | 3-羟基棕榈烯酰肉碱 (C16: Synonyms: Ⅰ 3-羟基棕榈烯酰肉碱（肉毒碱、 |
Example Units
| Unit | Source |
|---|---|
| umol/L | Example UCUM Units |
50125-4 3-Hydroxypalmitoylcarnitine (C16-OH) [Moles/volume] in DBS
Part Descriptions
LP19326-5 3-Hydroxypalmitoylcarnitine (C16-OH)
3-Hydroxypalmitoylcarnitine is a primary marker for Long-chain L-3-Hydroxy dehydrogenase deficiency, and Trifunctional protein deficiency.
Source: Regenstrief LOINC
Observation Required in Panel
Conditional
Type of Entry
Question expects user entry - requires response [Q]
Fully-Specified Name
- Component
- 3-Hydroxypalmitoylcarnitine (C16-OH)
- Property
- SCnc
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- 3OH-Palmitoylcarn DBS-sCnc
- Display Name
- C16-OH (DBS) [Moles/Vol]
- Consumer Name Alpha Get Info
- C16-OH, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.22
- Last Updated
- Version 2.73
- Order vs. Observation
- Both
- Common Test Rank Get Info
- 17963
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 58092-8 | Acylcarnitine newborn screen panel |
| 53262-2 | Carnitine newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | 3-Hidroxipalmitoilcarnitina (C16-OH): Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | 3-hidroxipamitoilcarnitina (C16-OH): |
| et-EE | Estonian (Estonia) | 3-hüdroksüpalmitoüülkarnitiin (C16-OH): Synonyms: Aine kontsentratsioon Juhuslik Kvantitatiivne Veri |
| fr-CA | French (Canada) | 3-hydroxypalmitoylcarnitine (C16-OH): |
| fr-FR | French (France) | 3-hydroxypalmitoylcarnitine (C16-OH): |
| fr-BE | French (Belgium) | 3-hydroxypalmitoylcarnitine (C16-OH): |
| it-IT | Italian (Italy) | 3-Idrossipalmitoilcarnitina (C16-OH): Synonyms: Chimica Concentrazione di Sostanza Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | 3-hydroxypalmitoylcarnitine (C16-OH): |
| pt-BR | Portuguese (Brazil) | 3-Hidroxipalmitoilcarnitina (C16-OH): Synonyms: ; |
| ru-RU | Russian (Russian Federation) | 3-Гидроксипальмитоилкарнитин (C16-OH): Synonyms: Количественный Кровь Кровь сухая капля Молярность; |
| tr-TR | Turkish (Turkey) | 3-Hidroksipalmitoilkarnitin (C16-OH): |
| zh-CN | Chinese (China) | 3-羟基棕榈酰肉碱 (C16-OH): Synonyms: 3-羟基棕榈酰肉碱（肉毒碱、 |
Example Units
| Unit | Source |
|---|---|
| umol/L | Example UCUM Units |
53201-0 3-Hydroxypalmitoylcarnitine (C16-OH)/Palmitoylcarnitine (C16) [Molar ratio] in DBS
Term Description
3-Hydroxypalmitoylcarnitine/Palmitoylcarnitine is a primary marker for Long-chain L-3-Hydroxy dehydrogenase deficiency, and Trifunctional protein deficiency.
Source: Regenstrief LOINC
Part Descriptions
LP19326-5 3-Hydroxypalmitoylcarnitine (C16-OH)
3-Hydroxypalmitoylcarnitine is a primary marker for Long-chain L-3-Hydroxy dehydrogenase deficiency, and Trifunctional protein deficiency.
Source: Regenstrief LOINC
LP70162-0 Palmitoylcarnitine (C16)
Palmitoylcarnitine is a primary marker for Very long-chain acyl-CoA dehydrogenase deficiency, Long-chain L-3-Hydroxy dehydrogenase deficiency, Trifunctional protein deficiency, Carnitine palmitoyltransferase I deficiency, Carnitine acylcarnitine translocase deficiency, and Carnitine palmitoyltransferase II deficiency. Secondary marker for Carnitine uptake defect.
Source: Regenstrief LOINC
Observation Required in Panel
Conditional
Type of Entry
Question expects user entry - requires response [Q]
Fully-Specified Name
- Component
- 3-Hydroxypalmitoylcarnitine (C16-OH)/Palmitoylcarnitine (C16)
- Property
- SRto
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- 3OH-Palmitoylcarn/C16 DBS-sRto
- Display Name
- C16-OH/Palmitoylcarnitine (C16) (DBS) [Molar ratio]
- Consumer Name Alpha Get Info
- C16-OH/Palmitoylcarnitine (C16), Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.24
- Last Updated
- Version 2.73
- Order vs. Observation
- Both
- Common Test Rank Get Info
- 19471
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 58092-8 | Acylcarnitine newborn screen panel |
| 53262-2 | Carnitine newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | 3-Hidroxipalmitoilcarnitina (C16-OH)/Palmitoilcarnitina (C16): Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | 3-Hydroxypalmitoylcarnitine (C16-OH) / Palmitoylcarnitine (C16): |
| fr-CA | French (Canada) | 3-hydroxypalmitoylcarnitine (C16-OH)/Palmitoylcarnitine (C16): |
| fr-FR | French (France) | 3-hydroxypalmitoylcarnitine (C16-OH)/palmitoylcarnitine (C16): |
| fr-BE | French (Belgium) | 3-hydroxypalmitoylcarnitine (C16-OH)/Palmitoylcarnitine (C16): |
| it-IT | Italian (Italy) | 3-Idrossipalmitoilcarnitina (C16-OH)/Palmitoilcarnitina (C16): Synonyms: Chimica Punto nel tempo (episodio) Rapporto di sostanza Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | 3-hydroxypalmitoylcarnitine (C16-OH)/palmitoylcarnitine (C16): |
| pt-BR | Portuguese (Brazil) | 3-Hidroxipalmitoilcarnitina (C16-OH/Palmitoilcarnitina (C16): Synonyms: ; |
| ru-RU | Russian (Russian Federation) | 3-Гидроксипальмитоилкарнитин (C16-OH)/Пальмитоилкарнитин (C16): Synonyms: Количественный Кровь Кровь сухая капля Мольная доля; |
| tr-TR | Turkish (Turkey) | 3-Hidroksipalmitoilkarnitin (C16-OH)/Palmitoilkarnitin (C16): Synonyms: SubsOranı |
| zh-CN | Chinese (China) | 3-羟基棕榈酰肉碱 (C16-OH)/棕榈酰肉碱 (C16): Synonyms: 3-羟基棕榈酰肉碱（肉毒碱、 |
Example Units
| Unit | Source |
|---|---|
| {Ratio} | Example UCUM Units |
45217-7 Linoleoylcarnitine (C18:2) [Moles/volume] in DBS
Part Descriptions
LP19327-3 Linoleoylcarnitine (C18:2)
Linoleoylcarnitine is a primary marker for Carnitine palmitoyltransferase I deficiency, Carnitine acylcarnitine translocase deficiency, and Carnitine palmitoyltransferase II deficiency. Secondary marker for Long-chain L-3-Hydroxy dehydrogenase deficiency, Trifunctional protein deficiency, and Carnitine uptake defect.
Source: Regenstrief Institute
Observation Required in Panel
Conditional
Type of Entry
Question expects user entry - requires response [Q]
Fully-Specified Name
- Component
- Linoleoylcarnitine (C18:2)
- Property
- SCnc
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- Linoleoylcarn DBS-sCnc
- Display Name
- C18:2 (DBS) [Moles/Vol]
- Consumer Name Alpha Get Info
- C18:2, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.17
- Last Updated
- Version 2.73
- Order vs. Observation
- Both
- Common Test Rank Get Info
- 12124
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 58092-8 | Acylcarnitine newborn screen panel |
| 53262-2 | Carnitine newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Linoleoilcarnitina (C18: Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Linoleoilcarnitina (C18: |
| et-EE | Estonian (Estonia) | Linoleoüülkarnitiin (C18: Synonyms: Aine kontsentratsioon Juhuslik Kvantitatiivne Veri |
| fr-CA | French (Canada) | Linoleoylcarnitine (C18: |
| fr-FR | French (France) | Linoléoylcarnitine (C18: |
| fr-BE | French (Belgium) | Linoleoylcarnitine (C18: |
| it-IT | Italian (Italy) | Linoleoilcarnitina (C18: Synonyms: Chimica Concentrazione di Sostanza Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | linoleoylcarnitine (C18: |
| pt-BR | Portuguese (Brazil) | Linoleoilcarnitina (C18: Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Линоленоилкарнитин (C18: Synonyms: Количественный Кровь Кровь сухая капля Молярность; |
| tr-TR | Turkish (Turkey) | Linoleoilkarnitin (C18: |
| zh-CN | Chinese (China) | 亚油酰肉碱 (C18: Synonyms: Ⅱ II 亚油酰肉碱（肉毒碱、 |
Example Units
| Unit | Source |
|---|---|
| umol/L | Example UCUM Units |
53202-8 Oleoylcarnitine (C18:1) [Moles/volume] in DBS
Part Descriptions
LP19328-1 Oleoylcarnitine (C18:1)
Oleoylcarnitine is a primary marker for Carnitine palmitoyltransferase I deficiency, Carnitine acylcarnitine translocase deficiency, and Carnitine palmitoyltransferase II deficiency. Secondary marker for Long-chain L-3-Hydroxy dehydrogenase deficiency, Trifunctional protein deficiency, and Carnitine uptake defect.
Source: Regenstrief LOINC
Observation Required in Panel
Conditional
Type of Entry
Question expects user entry - requires response [Q]
Fully-Specified Name
- Component
- Oleoylcarnitine (C18:1)
- Property
- SCnc
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- Oleoylcarn DBS-sCnc
- Display Name
- C18:1 (DBS) [Moles/Vol]
- Consumer Name Alpha Get Info
- C18:1, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.24
- Last Updated
- Version 2.73
- Order vs. Observation
- Both
- Common Test Rank Get Info
- 12270
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 58092-8 | Acylcarnitine newborn screen panel |
| 53262-2 | Carnitine newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Oleoilcarnitina (C18: Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Oleoilcarnitina (C18: |
| et-EE | Estonian (Estonia) | Oleoüülkarnitiin (C18: Synonyms: Aine kontsentratsioon Juhuslik Kvantitatiivne Veri |
| fr-CA | French (Canada) | Oléoylcarnitine (C18: |
| fr-FR | French (France) | Oléoylcarnitine (C18: |
| fr-BE | French (Belgium) | Oléoylcarnitine (C18: |
| it-IT | Italian (Italy) | Oleoilcarnitina (C18: Synonyms: Chimica Concentrazione di Sostanza Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | oleoylcarnitine (C18: |
| pt-BR | Portuguese (Brazil) | Oleoilcarnitina (C18: Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Олеоилкарнитин (C18: Synonyms: Количественный Кровь Кровь сухая капля Молярность; |
| tr-TR | Turkish (Turkey) | Oleoilkarnitin (C18: |
| zh-CN | Chinese (China) | 油酰肉碱 (C18: Synonyms: Ⅰ I 克分子浓度; |
Example Units
| Unit | Source |
|---|---|
| umol/L | Example UCUM Units |
53241-6 Stearoylcarnitine (C18) [Moles/volume] in DBS
Part Descriptions
LP29115-0 Stearoylcarnitine (C18)
Stearoylcarnitine is a primary marker for Carnitine palmitoyltransferase I deficiency, Carnitine acylcarnitine translocase deficiency, and Carnitine palmitoyltransferase II deficiency. Secondary marker for Long-chain L-3-Hydroxy dehydrogenase deficiency, Trifunctional protein deficiency, and Carnitine uptake defect.
Source: Regenstrief LOINC
Observation Required in Panel
Conditional
Type of Entry
Question expects user entry - requires response [Q]
Fully-Specified Name
- Component
- Stearoylcarnitine (C18)
- Property
- SCnc
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- Stearoylcarn DBS-sCnc
- Display Name
- C18 (DBS) [Moles/Vol]
- Consumer Name Alpha Get Info
- C18, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.24
- Last Updated
- Version 2.73
- Order vs. Observation
- Both
- Common Test Rank Get Info
- 19549
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 58092-8 | Acylcarnitine newborn screen panel |
| 53262-2 | Carnitine newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Estearoilcarnitina (C18): Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Estearoilcarnitina (C18): |
| et-EE | Estonian (Estonia) | Stearoüülkarnitiin (C18): Synonyms: Aine kontsentratsioon Juhuslik Kvantitatiivne Veri |
| fr-CA | French (Canada) | Stéaroylcarnitine (C18): |
| fr-FR | French (France) | Stéaroylcarnitine (C18): |
| fr-BE | French (Belgium) | Stéaroylcarnitine (C18): |
| it-IT | Italian (Italy) | Stearoilcarnitina (C18): Synonyms: Chimica Concentrazione di Sostanza Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | stearoylcarnitine (C18): |
| pt-BR | Portuguese (Brazil) | Estearoilcarnitina (C18): Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Стеароилкарнитин (C18): Synonyms: Количественный Кровь Кровь сухая капля Молярность; |
| tr-TR | Turkish (Turkey) | Stearoilkarnitin (C18): |
| zh-CN | Chinese (China) | 硬脂酰肉碱 (C18): Synonyms: 克分子浓度; |
Example Units
| Unit | Source |
|---|---|
| umol/L | Example UCUM Units |
53400-8 Stearoylcarnitine (C18)/Propionylcarnitine (C3) [Molar ratio] in DBS
Part Descriptions
LP29115-0 Stearoylcarnitine (C18)
Stearoylcarnitine is a primary marker for Carnitine palmitoyltransferase I deficiency, Carnitine acylcarnitine translocase deficiency, and Carnitine palmitoyltransferase II deficiency. Secondary marker for Long-chain L-3-Hydroxy dehydrogenase deficiency, Trifunctional protein deficiency, and Carnitine uptake defect.
Source: Regenstrief LOINC
LP70306-3 Propionylcarnitine (C3)
Propionylcarnitine is a primary marker for Propionic acidemia, Methylmalonic acidemia (mut), Methylmalonic acidemia (Cbl A, B), Methylmalonic aciduria and homocystinuria, and Succinyl-CoA ligase deficiency. Secondary marker for Multiple carboxylase deficiency.
Source: Regenstrief LOINC
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Stearoylcarnitine (C18)/Propionylcarnitine (C3)
- Property
- SRto
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- Stearoylcarn/C3 DBS-sRto
- Display Name
- C18/Propionylcarnitine (C3) (DBS) [Molar ratio]
- Consumer Name Alpha Get Info
- C18/Propionylcarnitine (C3), Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.24
- Last Updated
- Version 2.70
- Order vs. Observation
- Observation
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 58092-8 | Acylcarnitine newborn screen panel |
| 53262-2 | Carnitine newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Estearoilcarnitina (C18)/Propionilcarnitina (C39: Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Estearoilcarnitina (C18) / Propionilcarnitina (C3): |
| fr-CA | French (Canada) | Stéaroylcarnitine (C18)/Propionylcarnitine (C3): |
| fr-FR | French (France) | Stéaroylcarnitine (C18)/propionylcarnitine (C3): |
| fr-BE | French (Belgium) | Stéaroylcarnitine (C18)/Propionylcarnitine (C3): |
| it-IT | Italian (Italy) | Stearoilcarnitina (C18)/Propionilcarnitina (C3): Synonyms: Chimica Punto nel tempo (episodio) Rapporto di sostanza Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | stearoylcarnitine (C18)/propionylcarnitine (C3): |
| pt-BR | Portuguese (Brazil) | Estearoilcarnitina (C18)/Propionilcarnitina (C3): Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Стеароилкарнитин (C18)/Пропионилкарнитин (C3): Synonyms: Количественный Кровь Кровь сухая капля Мольная доля; |
| tr-TR | Turkish (Turkey) | Stearoilkarnitin (C18)/Propiyonilkarnitin (C3): Synonyms: SubsOranı |
| zh-CN | Chinese (China) | 硬脂酰肉碱 (C18)/丙酰肉碱 (C3): Synonyms: 丙酰肉碱（肉毒碱、 |
Example Units
| Unit | Source |
|---|---|
| {Ratio} | Example UCUM Units |
50109-8 3-Hydroxylinoleoylcarnitine (C18:2-OH) [Moles/volume] in DBS
Part Descriptions
LP19329-9 3-Hydroxylinoleoylcarnitine (C18:2-OH)
3-Hydroxylinoleoylcarnitine is a secondary marker for Long-chain L-3-Hydroxy dehydrogenase deficiency, and Trifunctional protein deficiency.
Source: Regenstrief LOINC
Observation Required in Panel
Conditional
Type of Entry
Question expects user entry - requires response [Q]
Fully-Specified Name
- Component
- 3-Hydroxylinoleoylcarnitine (C18:2-OH)
- Property
- SCnc
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- 3OH-Linoleoylcarn DBS-sCnc
- Display Name
- C18:2-OH (DBS) [Moles/Vol]
- Consumer Name Alpha Get Info
- C18:2-OH, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.22
- Last Updated
- Version 2.73
- Order vs. Observation
- Both
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 58092-8 | Acylcarnitine newborn screen panel |
| 53262-2 | Carnitine newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | 3-Hidroxilinoleoilcarnitina (C18: Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | 3-hidroxilinoleoilcarnitina (C18: |
| et-EE | Estonian (Estonia) | 3-hüdroksülinoleoüülkarnitiin (C18: Synonyms: Aine kontsentratsioon Juhuslik Kvantitatiivne Veri |
| fr-CA | French (Canada) | 3-hydroxylinoleoylcarnitine (C18: |
| fr-FR | French (France) | 3-hydroxylinoléoylcarnitine (C18: |
| fr-BE | French (Belgium) | 3-Hydroxylinoleoylcarnitine (C18: |
| it-IT | Italian (Italy) | 3-Idrossilinoleoilcarnitina (C18: Synonyms: Chimica Concentrazione di Sostanza Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | 3-hydroxylinoleoylcarnitine (C18: |
| pt-BR | Portuguese (Brazil) | 3-Hidroxilinoleoilcarnitina (C18: Synonyms: ; |
| ru-RU | Russian (Russian Federation) | 3-Гидроксилинолеоилкарнитин (C18: Synonyms: Количественный Кровь Кровь сухая капля Молярность; |
| tr-TR | Turkish (Turkey) | 3-Hidroksilinoleoilkarnitin (C18: |
| zh-CN | Chinese (China) | 3-羟基亚油酰肉碱 (C18: Synonyms: Ⅱ 3-羟基亚油酰肉碱（肉毒碱、 |
Example Units
| Unit | Source |
|---|---|
| umol/L | Example UCUM Units |
50113-0 3-Hydroxyoleoylcarnitine (C18:1-OH) [Moles/volume] in DBS
Part Descriptions
LP19330-7 3-Hydroxyoleoylcarnitine (C18:1-OH)
3-Hydroxyoleoylcarnitine is a primary marker for Long-chain L-3-Hydroxy dehydrogenase deficiency, and Trifunctional protein deficiency.
Source: Regenstrief LOINC
Observation Required in Panel
Conditional
Type of Entry
Question expects user entry - requires response [Q]
Fully-Specified Name
- Component
- 3-Hydroxyoleoylcarnitine (C18:1-OH)
- Property
- SCnc
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- 3OH-Oleoylcarn DBS-sCnc
- Display Name
- C18:1-OH (DBS) [Moles/Vol]
- Consumer Name Alpha Get Info
- C18:1-OH, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.22
- Last Updated
- Version 2.73
- Order vs. Observation
- Both
- Common Test Rank Get Info
- 17953
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 58092-8 | Acylcarnitine newborn screen panel |
| 53262-2 | Carnitine newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | 3-Hidroxioleoilcarnitina (C18: Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | 3-hidroxioleoilcarnitina (C18: |
| et-EE | Estonian (Estonia) | 3-hüdroksüoleüülkarnitiin (C18: Synonyms: Aine kontsentratsioon Juhuslik Kvantitatiivne Veri |
| fr-CA | French (Canada) | 3-hydroxyoléoylcarnitine (C18: |
| fr-FR | French (France) | 3-hydroxyoléoylcarnitine (C18: |
| fr-BE | French (Belgium) | 3-hydroxyoléoylcarnitine (C18: |
| it-IT | Italian (Italy) | 3-Idrossioleoilcarnitina (C18: Synonyms: Chimica Concentrazione di Sostanza Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | 3-hydroxyoleoylcarnitine (C18: |
| pt-BR | Portuguese (Brazil) | 3-Hidroxioleoilcarnitina (C18: Synonyms: ; |
| ru-RU | Russian (Russian Federation) | 3-Гидроксиолеоилкарнитин (C18: Synonyms: Количественный Кровь Кровь сухая капля Молярность; |
| tr-TR | Turkish (Turkey) | 3-Hidroksioleoilkarnitin (C18: |
| zh-CN | Chinese (China) | 3-羟基油酰肉碱 (C18: Synonyms: Ⅰ 3-羟基油酰肉碱（肉毒碱、 |
Example Units
| Unit | Source |
|---|---|
| umol/L | Example UCUM Units |
50132-0 3-Hydroxystearoylcarnitine (C18-OH) [Moles/volume] in DBS
Part Descriptions
LP33294-7 3-Hydroxystearoylcarnitine (C18-OH)
3-Hydroxystearoylcarnitine is a primary marker for Long-chain L-3-Hydroxy dehydrogenase deficiency, and Trifunctional protein deficiency.
Source: Regenstrief LOINC
Observation Required in Panel
Conditional
Type of Entry
Question expects user entry - requires response [Q]
Fully-Specified Name
- Component
- 3-Hydroxystearoylcarnitine (C18-OH)
- Property
- SCnc
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- 3OH-stearoylcarn DBS-sCnc
- Display Name
- C18-OH (DBS) [Moles/Vol]
- Consumer Name Alpha Get Info
- C18-OH, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.22
- Last Updated
- Version 2.73
- Order vs. Observation
- Both
- Common Test Rank Get Info
- 17969
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 58092-8 | Acylcarnitine newborn screen panel |
| 53262-2 | Carnitine newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | 3-Hidroxiestearoilcarnitina (C18-OH): Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | 3-hidroxiesteaaroilcarnitina (C18-OH): |
| et-EE | Estonian (Estonia) | 3-hüdroksüstearoüülkarnitiin (C18-OH): Synonyms: Aine kontsentratsioon Juhuslik Kvantitatiivne Veri |
| fr-CA | French (Canada) | 3-hydroxystéaroylcarnitine: |
| fr-FR | French (France) | 3-hydroxystéaroylcarnitine (C18-OH): |
| fr-BE | French (Belgium) | 3-hydroxystéaroylcarnitine (C18-OH): |
| it-IT | Italian (Italy) | 3-Idrossistearoilcarnitina (C18-OH): Synonyms: Chimica Concentrazione di Sostanza Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | 3-hydroxystearoylcarnitine (C18-OH): |
| pt-BR | Portuguese (Brazil) | 3-Hidroxiestearoilcarnitina (C18-OH)/: Synonyms: ; |
| ru-RU | Russian (Russian Federation) | 3-Гидроксистеароилкарнитин (C18-OH): Synonyms: Количественный Кровь Кровь сухая капля Молярность; |
| tr-TR | Turkish (Turkey) | 3-Hidroksistearoilkarnitin (C18-OH): |
| zh-CN | Chinese (China) | 3-羟基硬脂酰肉碱 (C18-OH): Synonyms: 3-羟基硬脂酰肉碱（肉毒碱、 |
Example Units
| Unit | Source |
|---|---|
| umol/L | Example UCUM Units |
53836-3 ABCD1 gene targeted mutation analysis in Blood or Tissue by Molecular genetics method
Part Descriptions
LP71403-7 ABCD1 gene
The ABCD1 gene (ATP-binding cassette, sub-family D (ALD), member 1) [HGNC Gene ID:61] is located on chromosome Xq28. The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the ALD subfamily, which is involved in peroxisomal import of fatty acids and/or fatty acyl-CoAs in the organelle. All known peroxisomal ABC transporters are half transporters which require a partner half transporter molecule to form a functional homodimeric or heterodimeric transporter. This peroxisomal membrane protein is likely involved in the peroxisomal transport or catabolism of very long chain fatty acids. Defects in this gene have been identified as the underlying cause of adrenoleukodystrophy, an X-chromosome recessively inherited demyelinating disorder of the nervous system. [provided by RefSeq, Jul 2008] [NCBI Gene ID:215]
Source: National Center for Biotechnology Information (NCBI) Gene
Fully-Specified Name
- Component
- ABCD1 gene targeted mutation analysis
- Property
- Find
- Time
- Pt
- System
- Bld/Tiss
- Scale
- Doc
- Method
- Molgen
Additional Names
- Short Name
- ABCD1 gene Mut Anl Bld/T
- Display Name
- ABCD1 gene targeted mutation analysis Molgen Doc (Bld/Tiss)
- Consumer Name Alpha Get Info
- ABCD1 gene targeted mutation analysis, Blood or tissue specimen
Basic Attributes
- Class
- MOLPATH.MUT
- Type
- Laboratory
- First Released
- Version 2.26
- Last Updated
- Version 2.66
- Change Reason
- Based on LOINC Committee review (June 2016), "targeted" was added to the Component to clarify that this test is looking for a specific set of mutations as described in the LOINC User Guide under the Molecular Genetics section.; Based on LOINC Committee review (June 2019), updated the Property from "Prid" to "Find" and Scale from "Nar" to "Doc" to align with the current LOINC model for naming collections of information reported in narrative and/or structured formats.
- Order vs. Observation
- Both
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 58092-8 | Acylcarnitine newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Gen ABCD1 Analisis de mutaciones: |
| es-MX | Spanish (Mexico) | Análisis de mutaciones dirigidas al gen ABCD1: |
| fr-FR | French (France) | ABCD1 gène mutation cible trouvée: |
| it-IT | Italian (Italy) | ABCD1, gene analisi di mutazione mirata: Synonyms: Gene ABCD1 Genetica molecolare Mutazione genica Osservazione Patologia molecolare Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & |
| nl-NL | Dutch (Netherlands) | ABCD1-gen doelgerichte mutatie-analyse: Synonyms: ABCD1 gen molgen targeted |
| pt-BR | Portuguese (Brazil) | ABCD1 análise de mutação genética: Synonyms: AcC42; |
| ru-RU | Russian (Russian Federation) | ABCD1 ген исследование на мутацию: Synonyms: Документ Кровь Кровь или Ткань Ткань и мазки Точка во времени; |
| tr-TR | Turkish (Turkey) | ABCD1 geni Mutasyon analizi: |
| zh-CN | Chinese (China) | ABCD1 基因 突变分析: Synonyms: ATP结合转运子超家族成员D1基因; |
57085-3 Organic acid newborn screen panel
Term Description
Newborn screening dried blood spot analysis by tandem mass spectrometry (MS/MS) requires pre-processing the specimen with one of two alternative reagent methods referred to as derivatized and non-derivatized (or underivatized) methods. The methods are similar and nearly all analytes and ratios are identical with the limited number of exceptions noted in the description of the LOINC codes. Some labs choose to use the non-derivatized method because it may be faster or less expensive for their operations. There are no analytes which would be interpreted differently based on the method used to process the specimen so there is no need for different LOINC codes for the same compounds based on the reagents. In a few cases, a different LOINC code is used for the derivatized or non-derivatized tandem mass spectrometry (MS/MS) method because based on the reagents used in processing, different analytes are measured or different sets of analytes become isobaric, which means that they cannot be distinguished on the MS/MS because they have the same molecular weight after reagent processing.
Source: Regenstrief LOINC
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Organic acid newborn screen panel
- Property
- -
- Time
- Pt
- System
- Bld.dot
- Scale
- -
- Method
Additional Names
- Short Name
- OA NB scn pnl DBS
- Display Name
- Organic acid NBS panel (DBS)
- Consumer Name Alpha Get Info
- Organic Acid NBS Panel, Dried blood spot
Basic Attributes
- Class
- PANEL.CHEM
- Type
- Laboratory
- First Released
- Version 2.29
- Last Updated
- Version 2.77
- Order vs. Observation
- Order
- Panel Type
- Panel
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 58092-8 | Acylcarnitine newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Panel de cribado de ácidos orgánicos en el recién nacido: |
| es-MX | Spanish (Mexico) | Panel de monitoreo de ácido orgánico para recién nacidos: |
| fr-FR | French (France) | Acides organiques dépistage néonatal panel: |
| it-IT | Italian (Italy) | Acidi organici, panel screening neonatale: Synonyms: Chimica Panel screening neonatale degli acidi organici Punto nel tempo (episodio) Sangue Set di prescrizione chimica Spot sangue secco |
| nl-NL | Dutch (Netherlands) | organische zuren pasgeborene screening panel: |
| pt-BR | Portuguese (Brazil) | Ácidos Orgânicos, triagem neonatal, painel: Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Органические кислоты новорождённый скрин панель: Synonyms: Кровь Кровь сухая капля Точка во времени; |
| zh-CN | Chinese (China) | 有机酸新生儿筛查组套: Synonyms: 全血斑点(滤纸); |
46744-9 Organic acidemias newborn screen interpretation
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Organic acidemias
- Property
- Imp
- Time
- Pt
- System
- Bld.dot
- Scale
- Nom
- Method
Additional Names
- Short Name
- OA DBS-Imp
- Display Name
- Organic acidemias (DBS) [Interp]
- Consumer Name Alpha Get Info
- Organic acidemias, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.19
- Last Updated
- Version 2.73
- Change Reason
- Changed answer list from "Normative" to "Preferred" to fit the current LOINC model.
- Order vs. Observation
- Observation
- Common Test Rank Get Info
- 1324
Preferred Answer List LL840-0
| Answer | Code | Score | Answer ID |
|---|---|---|---|
| In range | LA18592-8 | ||
| Borderline | LA4259-3 | ||
| Indeterminate Copyright http://snomed.info/sct ID:82334004 Indeterminate (qualifier value) | LA11884-6 | ||
| Out of range | LA18593-6 | ||
| Out of range requiring further dried blood spot testing for at least one condition | LA12430-7 | ||
| Out of range requiring immediate referral | LA25817-0 | ||
| Out of range requiring immediate second-tier testing for at least one condition | LA12431-5 | ||
| Out of range requiring deferred follow-up for at least one condition | LA18594-4 | ||
| One or more tests pending | LA16204-2 | ||
| Specimen unsatisfactory for at least one condition | LA16205-9 |
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 58092-8 | Acylcarnitine newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Acidemias orgánicas: |
| es-MX | Spanish (Mexico) | Acidemias orgánicas: |
| fr-CA | French (Canada) | Acidémies organiques: |
| fr-FR | French (France) | Acidémie organiques: |
| fr-BE | French (Belgium) | Acidémies organiques: |
| it-IT | Italian (Italy) | Acidemie organiche: Synonyms: Chimica Impressione/interpretazione di studio Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | organische acidemieën: |
| pt-BR | Portuguese (Brazil) | Acidemias orgânicas: Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Органические ацидемии: Synonyms: Впечатление/интерпретация исследования Кровь Кровь сухая капля Номинальный; |
| tr-TR | Turkish (Turkey) | Organik asidemiler: |
| zh-CN | Chinese (China) | 有机酸血症: Synonyms: OA; |
Third Party Copyright
This material includes SNOMED Clinical Terms® (SNOMED CT®) which is used by permission of the International Health Terminology Standards Development Organisation (IHTSDO) under license. All rights reserved. SNOMED CT® was originally created by The College of American Pathologists. "SNOMED" and "SNOMED CT" are registered trademarks of the IHTSDO.
This material includes content from the US Edition to SNOMED CT, which is developed and maintained by the U.S. National Library of Medicine and is available to authorized UMLS Metathesaurus Licensees from the UTS Downloads site at https://uts.nlm.nih.gov.
Use of SNOMED CT content is subject to the terms and conditions set forth in the SNOMED CT Affiliate License Agreement. It is the responsibility of those implementing this product to ensure they are appropriately licensed and for more information on the license, including how to register as an Affiliate Licensee, please refer to http://www.snomed.org/snomed-ct/get-snomed-ct or info@snomed.org<mailto:info@snomed.org>. This may incur a fee in SNOMED International non-Member countries.
57791-6 Organic acidemia conditions suspected [Identifier] in DBS
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Organic acidemia conditions suspected
- Property
- Prid
- Time
- Pt
- System
- Bld.dot
- Scale
- Nom
- Method
Additional Names
- Short Name
- OA conditions suspected DBS
- Display Name
- Organic acidemia conditions suspected Nom (DBS)
- Consumer Name Alpha Get Info
- Organic acidemia conditions suspected, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.29
- Last Updated
- Version 2.61
- Change Reason
- Changed answer list from "Normative" to "Preferred" to fit the current LOINC model.
- Order vs. Observation
- Observation
Preferred Answer List LL839-2
| Answer | Code | Score | Answer ID |
|---|---|---|---|
| None Copyright http://snomed.info/sct ID:260413007 None (qualifier value) | LA137-2 | ||
| 2M3HBA or BKT-2 | LA12577-5 | ||
| Glutaric acidemia type I Copyright http://snomed.info/sct ID:76175005 Glutaric aciduria, type 1 (disorder) | LA12493-5 | ||
| IVA or 2MBG or GA-2 or EMA | LA12578-3 | ||
| Malonic acidemia Copyright http://snomed.info/sct ID:124594007 Deficiency of malonyl-coenzyme A decarboxylase (disorder) | LA12508-0 | ||
| PROP or CBL A or CBL B or MUT or CBL C or MCD | LA12579-1 | ||
| 2-Methyl-3-hydroxybutyric aciduria Copyright http://snomed.info/sct ID:791000124107 2-methyl-3-hydroxybutyric aciduria (disorder) | 2M3HBA | LA12464-6 | |
| 2-Methylbutyrylglycinuria Copyright http://snomed.info/sct ID:445596006 2-methylbutyrylglycinuria (disorder) | LA12465-3 | ||
| 3-Hydroxy-3-methylglutaric aciduria Copyright http://snomed.info/sct ID:410059004 Hydroxymethylglutaric aciduria (disorder) | LA12499-2 | ||
| 3-Methylcrotonyl-CoA carboxylase deficiency Copyright http://snomed.info/sct ID:13144005 Methylcrotonyl-coenzyme A carboxylase deficiency (disorder) | LA12466-1 | ||
| Beta-ketothiolase deficiency Copyright http://snomed.info/sct ID:237953006 Mitochondrial 2-methylacetoacetyl-CoA thiolase deficiency - potassium stimulated (disorder) | LA12474-5 | ||
| Ethylmalonic encephalopathy Copyright http://snomed.info/sct ID:723307008 Ethylmalonic encephalopathy (disorder) | LA12491-9 | ||
| Formiminoglutamic acidemia Copyright http://snomed.info/sct ID:59761008 Glutamate formiminotransferase deficiency (disorder) | LA12492-7 | ||
| Isobutyrylglycinuria Copyright http://snomed.info/sct ID:445571008 Isobutyrylglycinuria (disorder) | LA12504-9 | ||
| Isovaleric acidemia Copyright http://snomed.info/sct ID:87827003 Isovaleryl-coenzyme A dehydrogenase deficiency (disorder) | LA12505-6 | ||
| 3-Methylcrotonyl-CoA carboxylase deficiency (maternal) Copyright http://snomed.info/sct ID:206001006 Fetal or neonatal effect of maternal problem unrelated to pregnancy (disorder) | LA12467-9 | ||
| Cobalamin A disease Copyright http://snomed.info/sct ID:73843004 Cobalamin A disease (disorder) | LA12476-0 | ||
| Cobalamin B disease Copyright http://snomed.info/sct ID:82245003 Cobalamin B disease (disorder) | LA12477-8 | ||
| Methylmalonic acidemia Copyright http://snomed.info/sct ID:124680001 Deficiency of methylmalonyl-coenzyme A mutase (disorder) | LA12515-5 | ||
| Cobalamin C disease Copyright http://snomed.info/sct ID:74653006 Cobalamin C disease (disorder) | LA12478-6 | ||
| Cobalamin D disease Copyright http://snomed.info/sct ID:31220004 Cobalamin D disease (disorder) | LA12479-4 | ||
| Holoocarboxylase synthase deficiency Copyright http://snomed.info/sct ID:360369003 Holocarboxylase synthase deficiency (disorder) | LA12510-6 | ||
| Primary lactic acidemia Copyright http://snomed.info/sct ID:190882007 Lactic acidemia (disorder) | LA12506-4 | ||
| Propionic acidemia Copyright http://snomed.info/sct ID:69080001 Propionic acidemia (disorder) | LA12523-9 | ||
| Succinyl-CoA ligase deficiency Copyright http://snomed.info/sct ID:445275003 Deficiency of succinate-coenzyme A ligase (disorder) | LA12526-2 | ||
| 3-MCC or 3-MCC (mat) or 3MGA or BKT or HMG or MCD or BIO | LA12915-7 | ||
| GA-1 or GA-2 | LA12917-3 |
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 58092-8 | Acylcarnitine newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Sospecha de estado de acidemia orgánica: |
| es-MX | Spanish (Mexico) | Sospecha de condiciones de acidemia orgánica: |
| fr-FR | French (France) | Acidémie organiques suspectées: |
| it-IT | Italian (Italy) | Acidemia organica, condizioni sospette: Synonyms: Chimica Condizioni sospette di acidemia organica Presenza o Identità Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | organische acidemie aandoeningen vermoed: |
| pt-BR | Portuguese (Brazil) | Condições acidemia orgânica suspeita: Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Органическая ацидемия состояния заподозрены: Synonyms: Кровь Кровь сухая капля Номинальный; |
| tr-TR | Turkish (Turkey) | Organik asidemi koşulları şüphelenilen: |
| zh-CN | Chinese (China) | 所怀疑的有机酸血症情况: Synonyms: 全血斑点(滤纸); |
Third Party Copyright
This material includes SNOMED Clinical Terms® (SNOMED CT®) which is used by permission of the International Health Terminology Standards Development Organisation (IHTSDO) under license. All rights reserved. SNOMED CT® was originally created by The College of American Pathologists. "SNOMED" and "SNOMED CT" are registered trademarks of the IHTSDO.
This material includes content from the US Edition to SNOMED CT, which is developed and maintained by the U.S. National Library of Medicine and is available to authorized UMLS Metathesaurus Licensees from the UTS Downloads site at https://uts.nlm.nih.gov.
Use of SNOMED CT content is subject to the terms and conditions set forth in the SNOMED CT Affiliate License Agreement. It is the responsibility of those implementing this product to ensure they are appropriately licensed and for more information on the license, including how to register as an Affiliate Licensee, please refer to http://www.snomed.org/snomed-ct/get-snomed-ct or info@snomed.org<mailto:info@snomed.org>. This may incur a fee in SNOMED International non-Member countries.
57708-0 Organic acidemias defects newborn screening comment-discussion
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Organic acidemias defects newborn screening comment-discussion
- Property
- Txt
- Time
- Pt
- System
- Bld.dot
- Scale
- Nar
- Method
Additional Names
- Short Name
- OA defects NBS comment
- Display Name
- Organic acidemias defects newborn screening comment-discussion Nar (DBS)
- Consumer Name Alpha Get Info
- Organic acidemias defects newborn screening comment-discussion, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.29
- Last Updated
- Version 2.42
- Order vs. Observation
- Observation
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 58092-8 | Acylcarnitine newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Defecto de acidemias orgánicas screnning de recién nacidos comentario-discusión: |
| es-MX | Spanish (Mexico) | Acidemias orgánicas defectos cribado neonatal comentario-discusión: |
| fr-FR | French (France) | Acidémie organiques déficit dépistage néonatal (commentaire-discussion): |
| it-IT | Italian (Italy) | Acidemie organiche, difetti, screening neonatale, commenti-discussione: Synonyms: Chimica Commento/discussione di screening neonatale per difetti di acidemia organica Difetti di acidemie organiche Punto nel tempo (episodio) Sangue Spot sangue secco Testo |
| nl-NL | Dutch (Netherlands) | organische acidemie afwijking screening van pasgeborene commentaar-discussie: |
| pt-BR | Portuguese (Brazil) | Defeitos de acidemias orgânicas na triagem neonatal comentários-discussão: Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Органическая ацидемия дефекты новорожденный скрининг комментарий-дискуссия: Synonyms: Кровь Кровь сухая капля Описательный Текст Точка во времени; |
| tr-TR | Turkish (Turkey) | Organik asidemi eksiklikleri yenidoğan tarama öneri-tartışma: |
| zh-CN | Chinese (China) | 有机酸血症缺陷 新生儿筛查注释-讨论: Synonyms: Asympt OA; |
50157-7 Acetylcarnitine (C2) [Moles/volume] in DBS
Part Descriptions
LP19301-8 Acetylcarnitine (C2)
An acetic acid ester of CARNITINE that facilitates movement of ACETYL COA into the matrices of mammalian MITOCHONDRIA during the oxidation of FATTY ACIDS.
Source: National Library of Medicine, MeSH 2006
LP19301-8 Acetylcarnitine (C2)
Acetylcarnitine is a primary marker for Carnitine uptake defect. Secondary marker for Short-chain L-3-hydroxy acyl-CoA dehydrogenase deficiency, Maternal carnitine uptake defect, Maternal 3-Methylcrotonyl-CoA carboxylase deficiency, Formiminoglutamic acidemia, and Succinyl-CoA ligase deficiency.
Source: Regenstrief LOINC
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Acetylcarnitine (C2)
- Property
- SCnc
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- Acetylcarn DBS-sCnc
- Display Name
- C2 (DBS) [Moles/Vol]
- Consumer Name Alpha Get Info
- C2, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.22
- Last Updated
- Version 2.73
- Order vs. Observation
- Both
- Common Test Rank Get Info
- 17972
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 58092-8 | Acylcarnitine newborn screen panel |
| 53262-2 | Carnitine newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Acetilcarnitina (C2): Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Acetilcarnitina (C2): |
| et-EE | Estonian (Estonia) | Atsetüülkarnitiin (C2): Synonyms: Aine kontsentratsioon Juhuslik Kvantitatiivne Veri |
| fr-CA | French (Canada) | Acétylcarnitine (C2): |
| fr-FR | French (France) | Acétylcarnitine (C2): |
| fr-BE | French (Belgium) | Acétylcarnitine (C2): |
| it-IT | Italian (Italy) | Acetilcarnitina (C2): Synonyms: Chimica Concentrazione di Sostanza Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | acetylcarnitine (C2): |
| pt-BR | Portuguese (Brazil) | Acetilcarnitina (C2): Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Ацетилкарнитин (C2): Synonyms: Количественный Кровь Кровь сухая капля Молярность; |
| tr-TR | Turkish (Turkey) | Asetilkarnitin (C2): |
| zh-CN | Chinese (China) | 乙酰肉碱 (C2): Synonyms: 乙酰肉碱（肉毒碱、 |
Example Units
| Unit | Source |
|---|---|
| umol/L | Example UCUM Units |
53237-4 Acrylylcarnitine (C3:1) [Moles/volume] in DBS
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Acrylylcarnitine (C3:1)
- Property
- SCnc
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- Acrylylcarn DBS-sCnc
- Display Name
- C3:1 (DBS) [Moles/Vol]
- Consumer Name Alpha Get Info
- C3:1, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.24
- Last Updated
- Version 2.70
- Order vs. Observation
- Both
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 58092-8 | Acylcarnitine newborn screen panel |
| 53262-2 | Carnitine newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Acrililcarnitina (C3: Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Acrililcarnitina (C3: |
| et-EE | Estonian (Estonia) | Akrülüülkarnitiin (C3: Synonyms: Aine kontsentratsioon Juhuslik Kvantitatiivne Veri |
| fr-CA | French (Canada) | Acrylylcarnitine (C3: |
| fr-FR | French (France) | Acrylylcarnitine (C3: |
| fr-BE | French (Belgium) | Acrylylcarnitine (C3: |
| it-IT | Italian (Italy) | Acrililcarnitina (C3: Synonyms: Chimica Concentrazione di Sostanza Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | acrylylcarnitine (C3: |
| pt-BR | Portuguese (Brazil) | Acrililcarnitina (C3: Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Акрилилкарнитин (C3: Synonyms: Количественный Кровь Кровь сухая капля Молярность; |
| tr-TR | Turkish (Turkey) | Akrililkarnitin (C3: |
| zh-CN | Chinese (China) | 丙烯酰肉碱 (C3: Synonyms: Ⅰ I 丙烯酰肉碱（肉毒碱、 |
Example Units
| Unit | Source |
|---|---|
| umol/L | Example UCUM Units |
53160-8 Propionylcarnitine (C3) [Moles/volume] in DBS
Part Descriptions
LP19303-4 Propionylcarnitine (C3)
Propionylcarnitine is a primary marker for Propionic acidemia, Methylmalonic acidemia (mut), Methylmalonic acidemia (Cbl A, B), Methylmalonic aciduria and homocystinuria, and Succinyl-CoA ligase deficiency. Secondary marker for Multiple carboxylase deficiency.
Source: Regenstrief LOINC
Observation Required in Panel
Conditional
Type of Entry
Question expects user entry - requires response [Q]
Fully-Specified Name
- Component
- Propionylcarnitine (C3)
- Property
- SCnc
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- Propionylcarn DBS-sCnc
- Display Name
- C3 (DBS) [Moles/Vol]
- Consumer Name Alpha Get Info
- C3, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.24
- Last Updated
- Version 2.73
- Order vs. Observation
- Both
- Common Test Rank Get Info
- 18808
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 58092-8 | Acylcarnitine newborn screen panel |
| 53262-2 | Carnitine newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Propionilcarnitina (C3): Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Propionilcarnitina (C3): |
| et-EE | Estonian (Estonia) | Propionüülkarnitiin (C3): Synonyms: Aine kontsentratsioon Juhuslik Kvantitatiivne Veri |
| fr-CA | French (Canada) | Propionylcarnitine (C3): |
| fr-FR | French (France) | Propionylcarnitine (C3): |
| fr-BE | French (Belgium) | Propionylcarnitine (C3): |
| it-IT | Italian (Italy) | Propionilcarnitina (C3): Synonyms: Chimica Concentrazione di Sostanza Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | propionylcarnitine (C3): |
| pt-BR | Portuguese (Brazil) | Propionilcarnitina (C3): Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Пропионилкарнитин (C3): Synonyms: Количественный Кровь Кровь сухая капля Молярность; |
| tr-TR | Turkish (Turkey) | Propiyonilkarnitin (C3): |
| zh-CN | Chinese (China) | 丙酰肉碱 (C3): Synonyms: 丙酰肉碱（肉毒碱、 |
Example Units
| Unit | Source |
|---|---|
| umol/L | Example UCUM Units |
53161-6 Propionylcarnitine (C3)/Methionine [Molar ratio] in DBS
Term Description
Propionylcarnitine/Methionine is a secondary marker for Methylmalonic aciduria and homocystinuria.
Source: Regenstrief LOINC
Propionylcarnitine/Palmitoylcarnitine is a primary marker for Secondary marker for Propionic acidemia, Methylmalonic acidemia (mut), Methylmalonic acidemia (Cbl A, B), Methylmalonic aciduria and homocystinuria, Succinyl-CoA ligase deficiency, and Multiple carboxylase deficiency.
Source: Regenstrief LOINC
Part Descriptions
LP19303-4 Propionylcarnitine (C3)
Propionylcarnitine is a primary marker for Propionic acidemia, Methylmalonic acidemia (mut), Methylmalonic acidemia (Cbl A, B), Methylmalonic aciduria and homocystinuria, and Succinyl-CoA ligase deficiency. Secondary marker for Multiple carboxylase deficiency.
Source: Regenstrief LOINC
LP70164-6 Methionine
Methionine is an essential nonpolar amino acid, and a lipotropic. Methionine and cysteine are the only sulfur-containing proteinogenic amino acids. The methionine derivative S-adenosyl methionine (SAM) serves as a methyl donor. Methionine plays a role in cysteine, carnitine and taurine synthesis by the transsulfuration pathway, lecithin production, the synthesis of phosphatidylcholine and other phospholipids. Improper conversion of methionine can lead to atherosclerosis. Methionine, a chelating agent, is one of only two amino acids encoded by a single codon (AUG) in the standard genetic code (tryptophan, encoded by UGG, is the other). The codon AUG is also significant, in that it carries the Start message for a ribosome to begin protein translation from mRNA. As a consequence, methionine is incorporated into the N-terminal position of all proteins in eukaryotes and archaea during translation, although it is usually removed by post-translational modification.
Copyright Text is available under the Creative Commons Attribution/Share-Alike License. See http://creativecommons.org/licenses/by-sa/3.0/ for details.
Source: Wikipedia, Methionine (Wikipedia)
Observation Required in Panel
Conditional
Type of Entry
Question expects user entry - requires response [Q]
Fully-Specified Name
- Component
- Propionylcarnitine (C3)/Methionine
- Property
- SRto
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- Propionylcarn/Methionine DBS-sRto
- Display Name
- C3/Methionine (DBS) [Molar ratio]
- Consumer Name Alpha Get Info
- C3/Methionine, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.24
- Last Updated
- Version 2.61
- Order vs. Observation
- Both
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 58092-8 | Acylcarnitine newborn screen panel |
| 53262-2 | Carnitine newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Propionilcarnitina (C3)/Metionina: Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Propionilcarnitina (C3) / Metionina: |
| fr-CA | French (Canada) | Propionylcarnitine (C3)/Méthionine: |
| fr-FR | French (France) | Propionylcarnitine (C3)/méthionine: |
| fr-BE | French (Belgium) | Propionylcarnitine (C3)/Méthionine: |
| it-IT | Italian (Italy) | Propionilcarnitina (C3)/Metionina: Synonyms: Chimica Punto nel tempo (episodio) Rapporto di sostanza Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | propionylcarnitine (C3)/methionine: |
| pt-BR | Portuguese (Brazil) | Propionilcarnitina (C3)/Metionina: Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Пропионилкарнитин (C3)/Метионин: Synonyms: Количественный Кровь Кровь сухая капля Мольная доля; |
| tr-TR | Turkish (Turkey) | Propiyonilkarnitin (C3)/Metiyonin: Synonyms: SubsOranı |
| zh-CN | Chinese (China) | 丙酰肉碱 (C3)/蛋氨酸: Synonyms: Met; |
Example Units
| Unit | Source |
|---|---|
| {Ratio} | Example UCUM Units |
53162-4 Propionylcarnitine (C3)/Carnitine.free (C0) [Molar ratio] in DBS
Term Description
Propionylcarnitine/Carnitine.free is a secondary marker for Propionic acidemia, Methylmalonic acidemia (mut), Methylmalonic acidemia (Cbl A, B), Methylmalonic aciduria and homocystinuria, Succinyl-CoA ligase deficiency, and Multiple carboxylase deficiency.
Source: Regenstrief LOINC
Part Descriptions
LP19303-4 Propionylcarnitine (C3)
Propionylcarnitine is a primary marker for Propionic acidemia, Methylmalonic acidemia (mut), Methylmalonic acidemia (Cbl A, B), Methylmalonic aciduria and homocystinuria, and Succinyl-CoA ligase deficiency. Secondary marker for Multiple carboxylase deficiency.
Source: Regenstrief LOINC
LP32015-7 Carnitine.free (C0)
Carnitine.free is a primary marker for carnitine uptake defect, propionic acidemia, maternal carnitine uptake defect, carnitine palmitoyltransferase I deficiency and primary lactic acidemia (various types). It is also a secondary marker for maternal glutaric acidemia type I.
Source: Regenstrief LOINC
Observation Required in Panel
Conditional
Type of Entry
Question expects user entry - requires response [Q]
Fully-Specified Name
- Component
- Propionylcarnitine (C3)/Carnitine.free (C0)
- Property
- SRto
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- Propionylcarn/C0 DBS-sRto
- Display Name
- C3/Carnitine.free (C0) (DBS) [Molar ratio]
- Consumer Name Alpha Get Info
- C3/Free Carnitine (C0), Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.24
- Last Updated
- Version 2.73
- Order vs. Observation
- Both
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 58092-8 | Acylcarnitine newborn screen panel |
| 53262-2 | Carnitine newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Propionilcarnitina (C3)/Carnitina libre: Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Propionilcarnitina (C3) / Carnitina.libre (C0): |
| fr-CA | French (Canada) | Propionylcarnitine (C3)/Carnitine.libre (C0): |
| fr-FR | French (France) | Propionylcarnitine (C3)/carnitine libre (C0): |
| fr-BE | French (Belgium) | Propionylcarnitine (C3)/Carnitine.libre (C0): |
| it-IT | Italian (Italy) | Propionilcarnitina (C3)/Carnitina.libera (C0): Synonyms: Carnitina libera (C0) Chimica Punto nel tempo (episodio) Rapporto di sostanza Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | propionylcarnitine (C3)/carnitine.vrij (C0): |
| pt-BR | Portuguese (Brazil) | Propionilcarnitina (C3)/Carnitina.livre (C0): Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Пропионилкарнитин (C3)/Карнитин.свободный(С0): Synonyms: Количественный Кровь Кровь сухая капля Мольная доля; |
| tr-TR | Turkish (Turkey) | Propiyonilkarnitin (C3)/Karnitin.serb (C0): Synonyms: SubsOranı |
| zh-CN | Chinese (China) | 丙酰肉碱 (C3)/肉碱.游离型 (C0): Synonyms: 丙酰肉碱（肉毒碱、 |
Example Units
| Unit | Source |
|---|---|
| {Ratio} | Example UCUM Units |
53163-2 Propionylcarnitine (C3)/Acetylcarnitine (C2) [Molar ratio] in DBS
Term Description
Propionylcarnitine/Acetylcarnitine is a primary marker for Propionic acidemia, Methylmalonic acidemia (Cbl A, B), Multiple carboxylase deficiency, Methylmalonic aciduria and homocystinuria. Secondary marker for Succinyl-CoA ligase deficiency.
Source: Regenstrief LOINC
Part Descriptions
LP19303-4 Propionylcarnitine (C3)
Propionylcarnitine is a primary marker for Propionic acidemia, Methylmalonic acidemia (mut), Methylmalonic acidemia (Cbl A, B), Methylmalonic aciduria and homocystinuria, and Succinyl-CoA ligase deficiency. Secondary marker for Multiple carboxylase deficiency.
Source: Regenstrief LOINC
LP70165-3 Acetylcarnitine (C2)
Acetyl-L-carnitine or ALCAR, is an acetylated form of L-carnitine. ALCAR has been claimed to be superior to normal L-carnitine in terms of bioavailability. However, at least one study has suggested that the acetylated form may have a lower oral bioavailability.
Copyright Text is available under the Creative Commons Attribution/Share-Alike License. See http://creativecommons.org/licenses/by-sa/3.0/ for details.
Source: Wikipedia, Acetylcarnitine
Observation Required in Panel
Conditional
Type of Entry
Question expects user entry - requires response [Q]
Fully-Specified Name
- Component
- Propionylcarnitine (C3)/Acetylcarnitine (C2)
- Property
- SRto
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- Propionylcarn/C2 DBS-sRto
- Display Name
- C3/Acetylcarnitine (C2) (DBS) [Molar ratio]
- Consumer Name Alpha Get Info
- C3/Acetylcarnitine (C2), Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.24
- Last Updated
- Version 2.73
- Order vs. Observation
- Both
- Common Test Rank Get Info
- 18646
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 58092-8 | Acylcarnitine newborn screen panel |
| 53262-2 | Carnitine newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Propionilcarnitina (C3)/Acetilcarnitina (C2): Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Propionilcarnitina (C3) / Acetilcarnitina (C2): |
| fr-CA | French (Canada) | Propionylcarnitine (C3)/Acétylcarnitine (C2): |
| fr-FR | French (France) | Propionylcarnitine (C3)/acétylcarnitine (C2): |
| fr-BE | French (Belgium) | Propionylcarnitine (C3)/Acétylcarnitine (C2): |
| it-IT | Italian (Italy) | Propionilcarnitina (C3)/Acetilcarnitina (C2): Synonyms: Chimica Punto nel tempo (episodio) Rapporto di sostanza Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | propionylcarnitine (C3)/acetylcarnitine (C2): |
| pt-BR | Portuguese (Brazil) | Propionilcarnitina (C3)/Acetilcarnitina (C2): Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Пропионилкарнитин (C3)/Ацетилкарнитин (C2): Synonyms: Количественный Кровь Кровь сухая капля Мольная доля; |
| tr-TR | Turkish (Turkey) | Propiyonilkarnitin (C3)/Asetilkarnitin (C2): Synonyms: SubsOranı |
| zh-CN | Chinese (China) | 丙酰肉碱 (C3)/乙酰肉碱 (C2): Synonyms: 丙酰肉碱（肉毒碱、 |
Example Units
| Unit | Source |
|---|---|
| {Ratio} | Example UCUM Units |
54462-7 Malonylcarnitine (C3-DC) [Moles/volume] in DBS
Part Descriptions
LP70363-4 Malonylcarnitine (C3-DC)
Malonylcarnitine is a metabolite that accumulates with specific disruption of fatty-acid oxidation caused by impaired entry of long-chain acylcarnitine esters into the mitochondria and failure of the mitochondrial respiratory chain at complex 11 and malonyl-CoA decarboxylase (EC 4.1.1.9) deficiency [OMIM: 248360]. Malonylcarnitine has also been found to accumulate in some newborns with medium-chain acyl-CoA dehydrogenase (EC 1.3.99.3) deficiency [OMIM: 201450], PMID: 11558490, PMID: 15303003, PMID: 12651823.
Copyright Copyright ©2005-2009 Genome Alberta (Reference to original publication: Wishart DS, Knox C, Guo AC, et al. HMDB: a knowledgebase for the human metabolome. Nucleic Acids Res. 2009 37(Database issue):D603-610.)
Source: Human Metabolome Database, Malonylcarnitine
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Malonylcarnitine (C3-DC)
- Property
- SCnc
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- Malonylcarn DBS-sCnc
- Display Name
- C3-DC (DBS) [Moles/Vol]
- Consumer Name Alpha Get Info
- C3-DC, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.27
- Last Updated
- Version 2.70
- Order vs. Observation
- Both
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 58092-8 | Acylcarnitine newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Malonilcarnitina (C3-DC): Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Malonilcarnitina (C3-DC): |
| et-EE | Estonian (Estonia) | Malonüülkarnitiin (C3-DC): Synonyms: Aine kontsentratsioon Juhuslik Kvantitatiivne Veri |
| fr-CA | French (Canada) | Malonylcarnitine (C3-DC): |
| fr-FR | French (France) | Malonylcarnitine (C3-DC): |
| fr-BE | French (Belgium) | Malonylcarnitine (C3-DC): |
| it-IT | Italian (Italy) | Malonilcarnitina (C3-DC): Synonyms: Chimica Concentrazione di Sostanza Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | malonylcarnitine (C3-DC): |
| pt-BR | Portuguese (Brazil) | Malonilcarnitina (C3-DC): Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Малонилкарнитин (C3-DC): Synonyms: Количественный Кровь Кровь сухая капля Молярность; |
| tr-TR | Turkish (Turkey) | Malonilkarnitin (C3-DC): |
| zh-CN | Chinese (China) | 丙二酰肉碱 (C3-DC): Synonyms: 丙二酰肉碱（肉毒碱、 |
Example Units
| Unit | Source |
|---|---|
| umol/L | Example UCUM Units |
67708-8 Malonylcarnitine (C3-DC)+3-Hydroxybutyrylcarnitine (C4-OH) [Moles/volume] in DBS
Term Description
This analyte is measured using the non-derivatized tandem mass spectrometry (MS/MS) method and is not measured when using the derivatized reagents. When using the derivatized reagents, it will instead be measured as the C3-DC+C8-OH analyte [LOINC: 53178-0]. A different LOINC code is used for the derivatized or non-derivatized method because based on the reagents used in processing, different sets of analytes become isobaric, which means that they cannot be distinguished on the MS/MS because they have the same molecular weight after reagent processing.
Source: Regenstrief LOINC
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Malonylcarnitine (C3-DC)+3-Hydroxybutyrylcarnitine (C4-OH)
- Property
- SCnc
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- Malonyl+3OHbutyrylcarn DBS-sCnc
- Display Name
- C3-DC+C4-OH (DBS) [Moles/Vol]
- Consumer Name Alpha Get Info
- C3-DC+C4-OH, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.38
- Last Updated
- Version 2.73
- Order vs. Observation
- Both
- Common Test Rank Get Info
- 17981
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 58092-8 | Acylcarnitine newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Malonilcarnitina (C3-DC)+3-hidroxibutirilcarnitina (C4-OH): Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Malonilcarnitina (C3-DC) + 3-Hidroxibutirilcarnitina (C4-OH): |
| fr-CA | French (Canada) | Malonylcarnitine (C3-DC)+3-hydroxybutyrylcarnitine (C4-OH): |
| fr-FR | French (France) | Malonylcarnitine (C3-DC)+3-hydroxybutyrylcarnitine (C4-OH): |
| it-IT | Italian (Italy) | Malonilcarnitina (C3-DC)+3-Idrossibutirilcarnitina (C4-OH): Synonyms: Chimica Concentrazione di Sostanza Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | malonylcarnitine (C3-DC) + 3-hydroxybutyrylcarnitine (C4-OH): |
| ru-RU | Russian (Russian Federation) | Малонилкарнитин (C3-DC)+3-Гидроксибутирилкарнитин (C4-OH): Synonyms: Количественный Кровь Кровь сухая капля Молярность; |
| tr-TR | Turkish (Turkey) | Malonilkarnitin (C3-DC)+3-Hidroksibütirilkarnitin (C4-OH): |
| zh-CN | Chinese (China) | 丙二酰肉碱 (C3-DC)+3-羟基异丁酰肉碱 (C4-OH): Synonyms: 3-羟基丁酰肉碱（肉毒碱、 |
Example Units
| Unit | Source |
|---|---|
| umol/L | Example UCUM Units |
75213-9 Malonylcarnitine (C3-DC)+3-Hydroxybutyrylcarnitine (C4-OH)/Decanoylcarnitine (C10) [Molar ratio] in DBS
Term Description
C3DC (Malonylcarnitine)+C4OH (3-Hydroxybutyrylcarnitine)/C10 (Decanoylcarnitine) is a marker for malonic acidemia (also known as malonic aciduria), which is one of the secondary conditions on the HHS Secretary's Recommended Uniform Screening Panel for newborn screening.
Source: Regenstrief LOINC
Part Descriptions
LP70167-9 Decanoylcarnitine (C10)
Decanoylcarnitine is a primary marker for Medium-chain acyl-CoA dehydrogenase deficiency and Glutaric acidemia type II. Secondary marker for Medium-chain ketoacyl-CoA thiolase deficiency.
Source: Regenstrief LOINC
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Malonylcarnitine (C3-DC)+3-Hydroxybutyrylcarnitine (C4-OH)/Decanoylcarnitine (C10)
- Property
- SRto
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- Malonyl+3OHbutyrylcarn/C10 DBS-sRto
- Display Name
- C3-DC+C4-OH/Decanoylcarnitine (C10) (DBS) [Molar ratio]
- Consumer Name Alpha Get Info
- C3-DC+C4-OH/Decanoylcarnitine (C10), Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.48
- Last Updated
- Version 2.61
- Order vs. Observation
- Both
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 58092-8 | Acylcarnitine newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Malonilcarnitina (C3-DC)+3-hidroxibutirilcarnitina (C4-OH)/Decanoilcarnitina (C10): Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Malonilcarnitina (C3-DC) + 3-Hidroxibutirilcarnitina (C4-OH) / Decanoilcarnitina (C10): |
| fr-CA | French (Canada) | Malonylcarnitine (C3-DC)+3-hydroxybutyrylcarnitine (C4-OH)/Décanoylcarnitine (C10): |
| fr-FR | French (France) | Malonylcarnitine (C3-DC)+3-hydroxybutyrylcarnitine (C4-OH)/décanoylcarnitine (C10): |
| it-IT | Italian (Italy) | Malonilcarnitina (C3-DC)+3-Idrossibutirilcarnitina (C4-OH)/Decanoilcarnitina (C10): Synonyms: Chimica Punto nel tempo (episodio) Rapporto di sostanza Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | malonylcarnitine (C3-DC) + 3-hydroxybutyrylcarnitine (C4-OH)/decanoylcarnitine (C10): |
| pt-BR | Portuguese (Brazil) | Malonilcarnitina (C3-DC)+3-Hidroxibutirilcarnitina (C4-OH)/Decanoilcarnitina (C10): |
| ru-RU | Russian (Russian Federation) | Малонилкарнитин (C3-DC)+3-Гидроксибутирилкарнитин (C4-OH)/Деканоилкарнитин (C10): Synonyms: Количественный Кровь Кровь сухая капля Мольная доля; |
| tr-TR | Turkish (Turkey) | Malonilkarnitin (C3-DC)+3-Hidroksibütirilkarnitin (C4-OH)/Dekanoilkarnitin (C10): Synonyms: SubsOranı |
| zh-CN | Chinese (China) | 丙二酰肉碱 (C3-DC)+3-羟基异丁酰肉碱 (C4-OH)/癸酰肉碱 (C10): Synonyms: 3-羟基丁酰肉碱（肉毒碱、 |
Example Units
| Unit | Source |
|---|---|
| {ratio} | Example UCUM Units |
53164-0 Propionylcarnitine (C3)/Palmitoylcarnitine (C16) [Molar ratio] in DBS
Part Descriptions
LP19303-4 Propionylcarnitine (C3)
Propionylcarnitine is a primary marker for Propionic acidemia, Methylmalonic acidemia (mut), Methylmalonic acidemia (Cbl A, B), Methylmalonic aciduria and homocystinuria, and Succinyl-CoA ligase deficiency. Secondary marker for Multiple carboxylase deficiency.
Source: Regenstrief LOINC
LP70162-0 Palmitoylcarnitine (C16)
Palmitoylcarnitine is a primary marker for Very long-chain acyl-CoA dehydrogenase deficiency, Long-chain L-3-Hydroxy dehydrogenase deficiency, Trifunctional protein deficiency, Carnitine palmitoyltransferase I deficiency, Carnitine acylcarnitine translocase deficiency, and Carnitine palmitoyltransferase II deficiency. Secondary marker for Carnitine uptake defect.
Source: Regenstrief LOINC
Observation Required in Panel
Conditional
Type of Entry
Question expects user entry - requires response [Q]
Fully-Specified Name
- Component
- Propionylcarnitine (C3)/Palmitoylcarnitine (C16)
- Property
- SRto
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- Propionylcarn/C16 DBS-sRto
- Display Name
- C3/Palmitoylcarnitine (C16) (DBS) [Molar ratio]
- Consumer Name Alpha Get Info
- C3/Palmitoylcarnitine (C16), Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.24
- Last Updated
- Version 2.73
- Order vs. Observation
- Both
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 58092-8 | Acylcarnitine newborn screen panel |
| 53262-2 | Carnitine newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Propionilcarnitina (C3)/Palmitoilcarnitina (C16): Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Propionilcarnitina (C3) / Palmitoilcarnitina (C16): |
| fr-CA | French (Canada) | Propionylcarnitine (C3)/Palmitoylcarnitine (C16): |
| fr-FR | French (France) | Propionylcarnitine (C3)/palmitoylcarnitine (C16): |
| fr-BE | French (Belgium) | Propionylcarnitine (C3)/Palmitoylcarnitine (C16): |
| it-IT | Italian (Italy) | Propionilcarnitina (C3)/Palmitoilcarnitina (C16): Synonyms: Chimica Punto nel tempo (episodio) Rapporto di sostanza Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | propionylcarnitine (C3)/palmitoylcarnitine (C16): |
| pt-BR | Portuguese (Brazil) | Propionilcarnitina (C3)/Palmitoilcarnitina (C16): Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Пропионилкарнитин (C3)/Пальмитоилкарнитин (C16): Synonyms: Количественный Кровь Кровь сухая капля Мольная доля; |
| tr-TR | Turkish (Turkey) | Propiyonilkarnitin (C3)/Palmitoilkarnitin (C16): Synonyms: SubsOranı |
| zh-CN | Chinese (China) | 丙酰肉碱 (C3)/棕榈酰肉碱 (C16): Synonyms: 丙酰肉碱（肉毒碱、 |
Example Units
| Unit | Source |
|---|---|
| {Ratio} | Example UCUM Units |
53166-5 Butyrylcarnitine+Isobutyrylcarnitine (C4) [Moles/volume] in DBS
Part Descriptions
LP66333-3 Butyrylcarnitine+Isobutyrylcarnitine (C4)
Butyrylcarnitine+Isobutyrylcarnitine is a primary marker for Short-chain acyl-CoA dehydrogenase deficiency, Glutaric acidemia type II and Isobutyrylglycinuria, Ethylmalonic encephalopathy.
Source: Regenstrief LOINC
Observation Required in Panel
Conditional
Type of Entry
Question expects user entry - requires response [Q]
Fully-Specified Name
- Component
- Butyrylcarnitine+Isobutyrylcarnitine (C4)
- Property
- SCnc
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- Butyryl+Isobutyrylcarn DBS-sCnc
- Display Name
- Butyrylcarnitine+Isobutyrylcarnitine (C4) (DBS) [Moles/Vol]
- Consumer Name Alpha Get Info
- Butyrylcarnitine+Isobutyrylcarnitine (C4), Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.24
- Last Updated
- Version 2.73
- Order vs. Observation
- Observation
- Common Test Rank Get Info
- 17344
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 58092-8 | Acylcarnitine newborn screen panel |
| 53262-2 | Carnitine newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Butirilcarnitina+Isobutirilcarnitina: Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Butirilcarnitina + Isobutirilcarnitina (C4): |
| et-EE | Estonian (Estonia) | Butürüülkarnitiin + isobutürüülkarnitiin (C4): Synonyms: Aine kontsentratsioon Juhuslik Kvantitatiivne Veri |
| fr-CA | French (Canada) | Butyrylcarnitine+Isobutyrylcarnitine (C4): |
| fr-FR | French (France) | Butyrylcarnitine+isobutyrylcarnitine (C4): |
| fr-BE | French (Belgium) | Butyrylcarnitine+Isobutyrylcarnitine (C4): |
| it-IT | Italian (Italy) | Butirrilcarnitina+Isobutirrilcarnitina (C4): Synonyms: Chimica Concentrazione di Sostanza Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | butyrylcarnitine + isobutyrylcarnitine (C4): |
| pt-BR | Portuguese (Brazil) | Butirilcarnitina+Isobutirilcarnitina (C4): Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Бутирилкарнитин+Изобутирилкарнитин (C4): Synonyms: Количественный Кровь Кровь сухая капля Молярность; |
| tr-TR | Turkish (Turkey) | Bütirilkarnitin+izobütirilkarnitin (C4): |
| zh-CN | Chinese (China) | 丁酰肉碱+异丁酰肉碱 (C4): Synonyms: 丁酰肉碱（肉毒碱、 |
Example Units
| Unit | Source |
|---|---|
| umol/L | Example UCUM Units |
53167-3 Butyrylcarnitine+Isobutyrylcarnitine (C4)/Acetylcarnitine (C2) [Molar ratio] in DBS
Term Description
Butyrylcarnitine+Isobutyrylcarnitine/Acetylcarnitine is a primary marker for Short-chain acyl-CoA dehydrogenase deficiency, Glutaric acidemia type II and Isobutyrylglycinuria, Ethylmalonic encephalopathy.
Source: Regenstrief LOINC
Part Descriptions
LP66333-3 Butyrylcarnitine+Isobutyrylcarnitine (C4)
Butyrylcarnitine+Isobutyrylcarnitine is a primary marker for Short-chain acyl-CoA dehydrogenase deficiency, Glutaric acidemia type II and Isobutyrylglycinuria, Ethylmalonic encephalopathy.
Source: Regenstrief LOINC
LP70165-3 Acetylcarnitine (C2)
Acetyl-L-carnitine or ALCAR, is an acetylated form of L-carnitine. ALCAR has been claimed to be superior to normal L-carnitine in terms of bioavailability. However, at least one study has suggested that the acetylated form may have a lower oral bioavailability.
Copyright Text is available under the Creative Commons Attribution/Share-Alike License. See http://creativecommons.org/licenses/by-sa/3.0/ for details.
Source: Wikipedia, Acetylcarnitine
Observation Required in Panel
Conditional
Type of Entry
Question expects user entry - requires response [Q]
Fully-Specified Name
- Component
- Butyrylcarnitine+Isobutyrylcarnitine (C4)/Acetylcarnitine (C2)
- Property
- SRto
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- Butyryl+Isobutyrylcarn/C2 DBS-sRto
- Display Name
- Butyrylcarnitine+Isobutyrylcarnitine (C4)/Acetylcarnitine (C2) (DBS) [Molar ratio]
- Consumer Name Alpha Get Info
- Butyrylcarnitine+Isobutyrylcarnitine (C4)/Acetylcarnitine (C2), Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.24
- Last Updated
- Version 2.61
- Order vs. Observation
- Both
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 58092-8 | Acylcarnitine newborn screen panel |
| 53262-2 | Carnitine newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Butirilcarnitina+Isobutirilcarnitina/Acetilcarnitina (C2): Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Butirilcarnitina + Isobutirilcarnitina (C4) / Acetilcarnitina (C2): |
| fr-CA | French (Canada) | Butyrylcarnitine+Isobutyrylcarnitine (C4)/Acétylcarnitine (C2): |
| fr-FR | French (France) | Butyrylcarnitine+isobutyrylcarnitine (C4)/acétylcarnitine (C2): |
| fr-BE | French (Belgium) | Butyrylcarnitine+Isobutyrylcarnitine (C4)/Acétylcarnitine (C2): |
| it-IT | Italian (Italy) | Butirrilcarnitina+Isobutirrilcarnitina (C4)/Acetilcarnitina (C2): Synonyms: Chimica Punto nel tempo (episodio) Rapporto di sostanza Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | butyrylcarnitine + isobutyrylcarnitine (C4)/acetylcarnitine (C2): |
| pt-BR | Portuguese (Brazil) | Butirilcarnitina+Isobutirilcarnitina (C4)/Acetilcarnitina (C2): Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Бутирилкарнитин+Изобутирилкарнитин (C4)/Ацетилкарнитин (C2): Synonyms: Количественный Кровь Кровь сухая капля Мольная доля; |
| tr-TR | Turkish (Turkey) | Bütirilkarnitin+izobütirilkarnitin (C4)/Asetilkarnitin (C2): Synonyms: SubsOranı |
| zh-CN | Chinese (China) | 丁酰肉碱+异丁酰肉碱 (C4)/乙酰肉碱 (C2): Synonyms: 丁酰肉碱（肉毒碱、 |
Example Units
| Unit | Source |
|---|---|
| {Ratio} | Example UCUM Units |
53168-1 Butyrylcarnitine+Isobutyrylcarnitine (C4)/Propionylcarnitine (C3) [Molar ratio] in DBS
Term Description
Butyrylcarnitine+Isobutyrylcarnitine/Propionylcarnitine is a primary marker for Short-chain acyl-CoA dehydrogenase deficiency, Glutaric acidemia type II and Isobutyrylglycinuria, Ethylmalonic encephalopathy.
Source: Regenstrief LOINC
Part Descriptions
LP66333-3 Butyrylcarnitine+Isobutyrylcarnitine (C4)
Butyrylcarnitine+Isobutyrylcarnitine is a primary marker for Short-chain acyl-CoA dehydrogenase deficiency, Glutaric acidemia type II and Isobutyrylglycinuria, Ethylmalonic encephalopathy.
Source: Regenstrief LOINC
LP70306-3 Propionylcarnitine (C3)
Propionylcarnitine is a primary marker for Propionic acidemia, Methylmalonic acidemia (mut), Methylmalonic acidemia (Cbl A, B), Methylmalonic aciduria and homocystinuria, and Succinyl-CoA ligase deficiency. Secondary marker for Multiple carboxylase deficiency.
Source: Regenstrief LOINC
Observation Required in Panel
Conditional
Type of Entry
Question expects user entry - requires response [Q]
Fully-Specified Name
- Component
- Butyrylcarnitine+Isobutyrylcarnitine (C4)/Propionylcarnitine (C3)
- Property
- SRto
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- Butyryl+Isobutyrylcarn/C3 DBS-sRto
- Display Name
- Butyrylcarnitine+Isobutyrylcarnitine (C4)/Propionylcarnitine (C3) (DBS) [Molar ratio]
- Consumer Name Alpha Get Info
- Butyrylcarnitine+Isobutyrylcarnitine (C4)/Propionylcarnitine (C3), Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.24
- Last Updated
- Version 2.61
- Order vs. Observation
- Both
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 58092-8 | Acylcarnitine newborn screen panel |
| 53262-2 | Carnitine newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Butirilcarnitina+Isobutirilcarnitina/Propionilcarnitina (C39: Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Butirilcarnitina + Isobutirilcarnitina (C4) / Propionilcarnitina (C3): |
| fr-CA | French (Canada) | Butyrylcarnitine+Isobutyrylcarnitine (C4)/Propionylcarnitine (C3): |
| fr-FR | French (France) | Butyrylcarnitine+isobutyrylcarnitine (C4)/propionycarnitine (C3): |
| fr-BE | French (Belgium) | Butyrylcarnitine+Isobutyrylcarnitine (C4)/Propionylcarnitine (C3): |
| it-IT | Italian (Italy) | Butirrilcarnitina+Isobutirrilcarnitina (C4)/Propionilcarnitina (C3): Synonyms: Chimica Punto nel tempo (episodio) Rapporto di sostanza Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | butyrylcarnitine + isobutyrylcarnitine (C4)/propionylcarnitine (C3): |
| pt-BR | Portuguese (Brazil) | Butirilcarnitina+Isobutirilcarnitina (C4)/Propionilcarnitina (C3): Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Бутирилкарнитин+Изобутирилкарнитин (C4)/Пропионилкарнитин (C3): Synonyms: Количественный Кровь Кровь сухая капля Мольная доля; |
| tr-TR | Turkish (Turkey) | Bütirilkarnitin+izobütirilkarnitin (C4)/Propiyonilkarnitin (C3): Synonyms: SubsOranı |
| zh-CN | Chinese (China) | 丁酰肉碱+异丁酰肉碱 (C4)/丙酰肉碱 (C3): Synonyms: 丁酰肉碱（肉毒碱、 |
Example Units
| Unit | Source |
|---|---|
| {Ratio} | Example UCUM Units |
53169-9 Butyrylcarnitine+Isobutyrylcarnitine (C4)/Octanoylcarnitine (C8) [Molar ratio] in DBS
Term Description
Butyrylcarnitine+Isobutyrylcarnitine/Octanoylcarnitine is a primary marker for Short-chain acyl-CoA dehydrogenase deficiency, Isobutyrylglycinuria and Ethylmalonic encephalopathy.
Source: Regenstrief LOINC
Part Descriptions
LP66333-3 Butyrylcarnitine+Isobutyrylcarnitine (C4)
Butyrylcarnitine+Isobutyrylcarnitine is a primary marker for Short-chain acyl-CoA dehydrogenase deficiency, Glutaric acidemia type II and Isobutyrylglycinuria, Ethylmalonic encephalopathy.
Source: Regenstrief LOINC
LP70166-1 Octanoylcarnitine (C8)
Octanoylcarnitine is a primary marker for Medium-chain acyl-CoA dehydrogenase deficiency, Glutaric acidemia type II and Medium-chain ketoacyl-CoA thiolase deficiency.
Source: Regenstrief LOINC
Observation Required in Panel
Conditional
Type of Entry
Question expects user entry - requires response [Q]
Fully-Specified Name
- Component
- Butyrylcarnitine+Isobutyrylcarnitine (C4)/Octanoylcarnitine (C8)
- Property
- SRto
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- Butyryl+Isobutyrylcarn/C8 DBS-sRto
- Display Name
- Butyrylcarnitine+Isobutyrylcarnitine (C4)/Octanoylcarnitine (C8) (DBS) [Molar ratio]
- Consumer Name Alpha Get Info
- Butyrylcarnitine+Isobutyrylcarnitine (C4)/Octanoylcarnitine (C8), Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.24
- Last Updated
- Version 2.61
- Order vs. Observation
- Both
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 58092-8 | Acylcarnitine newborn screen panel |
| 53262-2 | Carnitine newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Butirilcarnitina+Isobutirilcarnitina/Octanoilcarnitina (C8): Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Butirilcarnitina + Isobutirilcarnitina (C4) / Octanoilcarnitina (C8): |
| fr-CA | French (Canada) | Butyrylcarnitine+Isobutyrylcarnitine (C4)/Octanoylcarnitine (C8): |
| fr-FR | French (France) | Butyrylcarnitine+isobutyrylcarnitine (C4)/octanoylcarnitine (C8): |
| fr-BE | French (Belgium) | Butyrylcarnitine+Isobutyrylcarnitine (C4)/Octanoylcarnitine (C8): |
| it-IT | Italian (Italy) | Butirrilcarnitina+Isobutirrilcarnitina (C4)/Octanoilcarnitina (C8): Synonyms: Chimica Punto nel tempo (episodio) Rapporto di sostanza Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | butyrylcarnitine + isobutyrylcarnitine (C4)/octanoylcarnitine (C8): |
| pt-BR | Portuguese (Brazil) | Butirilcarnitina+Isobutirilcarnitina (C4)/Octanoilcarnitina (C8): Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Бутирилкарнитин+Изобутирилкарнитин (C4)/Октаноилкарнитин (C8): Synonyms: Количественный Кровь Кровь сухая капля Мольная доля; |
| tr-TR | Turkish (Turkey) | Bütirilkarnitin+izobütirilkarnitin (C4)/Oktanoilkarnitin (C8): Synonyms: SubsOranı |
| zh-CN | Chinese (China) | 丁酰肉碱+异丁酰肉碱 (C4)/辛酰肉碱 (C8): Synonyms: 丁酰肉碱（肉毒碱、 |
Example Units
| Unit | Source |
|---|---|
| {Ratio} | Example UCUM Units |
53170-7 Tiglylcarnitine (C5:1) [Moles/volume] in DBS
Part Descriptions
LP66336-6 Tiglylcarnitine (C5:1)
Tiglylcarnitine is a primary marker for Beta-Ketothiolase deficiency and 2-Methyl-3-hydroxybutyric aciduria.
Source: Regenstrief LOINC
Observation Required in Panel
Conditional
Type of Entry
Question expects user entry - requires response [Q]
Fully-Specified Name
- Component
- Tiglylcarnitine (C5:1)
- Property
- SCnc
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- Tiglylcarn DBS-sCnc
- Display Name
- Tiglylcarnitine (C5:1) (DBS) [Moles/Vol]
- Consumer Name Alpha Get Info
- Tiglylcarnitine (C5:1), Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.24
- Last Updated
- Version 2.73
- Order vs. Observation
- Both
- Common Test Rank Get Info
- 19853
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 58092-8 | Acylcarnitine newborn screen panel |
| 53262-2 | Carnitine newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Tiglilcarnitina (C5: Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Tiglylcarnitine (C5: |
| et-EE | Estonian (Estonia) | Tiglülkarnitiin (C5: Synonyms: Aine kontsentratsioon Juhuslik Kvantitatiivne Veri |
| fr-CA | French (Canada) | Tiglylcarnitine (C5: |
| fr-FR | French (France) | Tiglylcarnitine (C5: |
| fr-BE | French (Belgium) | Tiglylcarnitine (C5: |
| it-IT | Italian (Italy) | Tiglilcarnitina (C5: Synonyms: Chimica Concentrazione di Sostanza Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | tiglylcarnitine (C5: |
| pl-PL | Polish (Poland) | Tiglilokarnityna (C5: Synonyms: Tiglicarnityna (C5: |
| pt-BR | Portuguese (Brazil) | Tiglilcarnitina (C5: Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Тиглилкарнитин (C5: Synonyms: Количественный Кровь Кровь сухая капля Молярность; |
| tr-TR | Turkish (Turkey) | Tiglilkarnitin (C5: |
| zh-CN | Chinese (China) | 甲基巴豆酰肉碱 (C5: Synonyms: Ⅰ I 克分子浓度; |
Example Units
| Unit | Source |
|---|---|
| umol/L | Example UCUM Units |
45207-8 Glutarylcarnitine (C5-DC) [Moles/volume] in DBS
Part Descriptions
LP19314-1 Glutarylcarnitine (C5-DC)
Glutaric aciduria type I (GA I) is an autosomal-recessive deficiency of glutaryl-CoA-dehydrogenase and leads to encephalopathic crises resulting in neurological damage. A screening parameter is glutarylcarnitine (C5DC) with carnitine ratios. C5DC was shown to be significantly associated with renal manifestations. Creatinine correlates significantly with C5DC and all C5DC/acylcarnitine ratios. PMID: 20033292
Source: Regenstrief LOINC
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Glutarylcarnitine (C5-DC)
- Property
- SCnc
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- Glutarylcarn DBS-sCnc
- Display Name
- C5-DC (DBS) [Moles/Vol]
- Consumer Name Alpha Get Info
- C5-DC, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.17
- Last Updated
- Version 2.73
- Order vs. Observation
- Both
- Common Test Rank Get Info
- 17229
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 58092-8 | Acylcarnitine newborn screen panel |
| 53262-2 | Carnitine newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Glutarilcarnitina (C5-DC): Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Glutarilcarnitina (C5-DC): |
| et-EE | Estonian (Estonia) | Glutarüülkarnitiin (C5-DC): Synonyms: Aine kontsentratsioon Juhuslik Kvantitatiivne Veri |
| fr-CA | French (Canada) | Glutarylcarnitine (C5-DC): |
| fr-FR | French (France) | Glutarylcarnitine (C5-DC): |
| fr-BE | French (Belgium) | Glutarylcarnitine (C5-DC): |
| it-IT | Italian (Italy) | Glutarilcarnitina (C5-DC): Synonyms: Chimica Concentrazione di Sostanza Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | glutarylcarnitine (C5-DC): |
| pt-BR | Portuguese (Brazil) | Glutarilcarnitina (C5-DC): Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Глутарилкарнитин (C5-DC): Synonyms: Количественный Кровь Кровь сухая капля Молярность; |
| tr-TR | Turkish (Turkey) | Glutarilkarnitin (C5-DC): |
| zh-CN | Chinese (China) | 戊二酰肉碱 (C5-DC): Synonyms: 克分子浓度; |
Example Units
| Unit | Source |
|---|---|
| umol/L | Example UCUM Units |
75216-2 Glutarylcarnitine (C5-DC)/Malonylcarnitine (C3-DC) [Molar ratio] in DBS
Term Description
C5DC (Glutarylcarnitine)/C3DC (Malonylcarnitine) is a marker for malonic acidemia (also known as malonic aciduria), which is one of the secondary conditions on the HHS Secretary's Recommended Uniform Screening Panel for newborn screening.
Source: Regenstrief LOINC
Part Descriptions
LP19314-1 Glutarylcarnitine (C5-DC)
Glutaric aciduria type I (GA I) is an autosomal-recessive deficiency of glutaryl-CoA-dehydrogenase and leads to encephalopathic crises resulting in neurological damage. A screening parameter is glutarylcarnitine (C5DC) with carnitine ratios. C5DC was shown to be significantly associated with renal manifestations. Creatinine correlates significantly with C5DC and all C5DC/acylcarnitine ratios. PMID: 20033292
Source: Regenstrief LOINC
Fully-Specified Name
- Component
- Glutarylcarnitine (C5-DC)/Malonylcarnitine (C3-DC)
- Property
- SRto
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- Glutarylcarn/C3-DC DBS-sRto
- Display Name
- C5-DC/Malonylcarnitine (C3-DC) (DBS) [Molar ratio]
- Consumer Name Alpha Get Info
- C5-DC/Malonylcarnitine (C3-DC), Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.48
- Last Updated
- Version 2.61
- Order vs. Observation
- Both
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 58092-8 | Acylcarnitine newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Glutarilcarnitina (C5-DC)/Malonilcarnitina (C3-DC): Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Glutarilcarnitina (C5-DC) / Malonilcarnitina (C3-DC): |
| fr-FR | French (France) | Glutarylcarnitine (C5-DC)/malonylcarnitine (C3-DC): |
| it-IT | Italian (Italy) | Glutarilcarnitina (C5-DC)/Malonilcarnitina (C3-DC): Synonyms: Chimica Punto nel tempo (episodio) Rapporto di sostanza Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | glutarylcarnitine (C5-DC)/malonylcarnitine (C3-DC): |
| pt-BR | Portuguese (Brazil) | Glutarilcarnitina (C5-DC)/Malonilcarnitina (C3-DC): |
| ru-RU | Russian (Russian Federation) | Глутарилкарнитин (C5-DC)/Малонилкарнитин (C3-DC): Synonyms: Количественный Кровь Кровь сухая капля Мольная доля; |
| tr-TR | Turkish (Turkey) | Glutarilkarnitin (C5-DC)/Malonilkarnitin (C3-DC): Synonyms: SubsOranı |
| zh-CN | Chinese (China) | 戊二酰肉碱 (C5-DC)/丙二酰肉碱 (C3-DC): Synonyms: 丙二酰肉碱（肉毒碱、 |
Example Units
| Unit | Source |
|---|---|
| {ratio} | Example UCUM Units |
67701-3 Glutarylcarnitine (C5-DC)+3-Hydroxyhexanoylcarnitine (C6-OH)/Palmitoylcarnitine (C16) [Molar ratio] in DBS
Term Description
This ratio may be computed only when using the non-derivatized tandem mass spectrometry (MS/MS) method reagents which measure the numerator, C5-DC+C6-OH, as a single isobaric analyte.
Source: Regenstrief LOINC
Part Descriptions
LP70162-0 Palmitoylcarnitine (C16)
Palmitoylcarnitine is a primary marker for Very long-chain acyl-CoA dehydrogenase deficiency, Long-chain L-3-Hydroxy dehydrogenase deficiency, Trifunctional protein deficiency, Carnitine palmitoyltransferase I deficiency, Carnitine acylcarnitine translocase deficiency, and Carnitine palmitoyltransferase II deficiency. Secondary marker for Carnitine uptake defect.
Source: Regenstrief LOINC
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Glutarylcarnitine (C5-DC)+3-Hydroxyhexanoylcarnitine (C6-OH)/Palmitoylcarnitine (C16)
- Property
- SRto
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- Glut+3OHhexanoylcarn/C16 DBS-sRto
- Display Name
- C5-DC+C6-OH/Palmitoylcarnitine (C16) (DBS) [Molar ratio]
- Consumer Name Alpha Get Info
- C5-DC+C6-OH/Palmitoylcarnitine (C16), Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.38
- Last Updated
- Version 2.73
- Order vs. Observation
- Observation
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 58092-8 | Acylcarnitine newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Glutarilcarnitina (C5-DC)+3-Hidroxihexanoilcarnitina (C6-OH)/Palmitoilcarnitina (C16): Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Glutarilcarnitina (C5-DC) + 3-Hidroxihexanoilcarnitina (C6-OH) / Palmitoilcarnitina (C16): |
| fr-FR | French (France) | Glutarylcarnitine (C5-DC)+3-hydroxyhexanoylcarnitine (C6-OH)/palmitoylcarnitine (C16): |
| it-IT | Italian (Italy) | Glutarilcarnitina (C5-DC)+3-Idrossiesanoilcarnitina (C6-OH)/Palmitoilcarnitina (C16): Synonyms: Chimica Punto nel tempo (episodio) Rapporto di sostanza Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | glutarylcarnitine (C5-DC) + 3-hydroxyhexanoylcarnitine (C6-OH)/palmitoylcarnitine (C16): |
| ru-RU | Russian (Russian Federation) | Глутарилкарнитин (C5-DC)+3-Гидроксигексаноилкарнитин (C6-OH)/Пальмитоилкарнитин (C16): Synonyms: Количественный Кровь Кровь сухая капля Мольная доля; |
| tr-TR | Turkish (Turkey) | Glutarilkarnitin (C5-DC)+3-Hidroksihekzanoilkarnitin (C6-OH)/Palmitoilkarnitin (C16): Synonyms: SubsOranı |
| zh-CN | Chinese (China) | 戊二酰肉碱 (C5-DC)+3-羟基己酰肉碱 (C6-OH)/棕榈酰肉碱 (C16): Synonyms: 3-羟基己酰肉碱（肉毒碱、 |
Example Units
| Unit | Source |
|---|---|
| {Ratio} | Example UCUM Units |
67710-4 Glutarylcarnitine (C5-DC)+3-Hydroxyhexanoylcarnitine (C6-OH) [Moles/volume] in DBS
Term Description
This analyte is measured using the non-derivatized tandem mass spectrometry (MS/MS) method and is not measured when using the derivatized reagents. When using the derivatized reagents, it will instead be measured as the C5-DC+C10-OH analyte [LOINC: 53183-0]. A different LOINC code is used for the derivatized or non-derivatized method because based on the reagents used in processing, different sets of analytes become isobaric, which means that they cannot be distinguished on the MS/MS because they have the same molecular weight after reagent processing.
Source: Regenstrief LOINC
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Glutarylcarnitine (C5-DC)+3-Hydroxyhexanoylcarnitine (C6-OH)
- Property
- SCnc
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- Glut+3OHhexanoylcarn DBS-sCnc
- Display Name
- C5-DC+C6-OH (DBS) [Moles/Vol]
- Consumer Name Alpha Get Info
- C5-DC+C6-OH, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.38
- Last Updated
- Version 2.73
- Order vs. Observation
- Both
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 58092-8 | Acylcarnitine newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Glutarilcarnitina (C5-DC)+3-Hidroxihexanoilcarnitina (C6-OH): Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Glutarilcarnitina (C5-DC) + 3-Hidroxihexanoilcarnitina (C6-OH): |
| fr-FR | French (France) | Glutarylcarnitine (C5-DC)+3-hydroxyhexanoylcarnitine (C6-OH): |
| it-IT | Italian (Italy) | Glutarilcarnitina (C5-DC)+3-Idrossiesanoilcarnitina (C6-OH): Synonyms: Chimica Concentrazione di Sostanza Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | glutarylcarnitine (C5-DC) + 3-hydroxyhexanoylcarnitine (C6-OH): |
| ru-RU | Russian (Russian Federation) | Глутарилкарнитин (C5-DC)+3-Гидроксигексаноилкарнитин (C6-OH): Synonyms: Количественный Кровь Кровь сухая капля Молярность; |
| tr-TR | Turkish (Turkey) | Glutarilkarnitin (C5-DC)+3-Hidroksihekzanoilkarnitin (C6-OH): |
| zh-CN | Chinese (China) | 戊二酰肉碱 (C5-DC)+3-羟基己酰肉碱 (C6-OH): Synonyms: 3-羟基己酰肉碱（肉毒碱、 |
Example Units
| Unit | Source |
|---|---|
| umol/L | Example UCUM Units |
67711-2 Glutarylcarnitine (C5-DC)+3-Hydroxyhexanoylcarnitine (C6-OH)/Octanoylcarnitine (C8) [Molar ratio] in DBS
Term Description
This ratio may be computed only when using the non-derivatized tandem mass spectrometry (MS/MS) method reagents which measure the numerator, C5-DC+C6-OH, as a single isobaric analyte.
Source: Regenstrief LOINC
Part Descriptions
LP70166-1 Octanoylcarnitine (C8)
Octanoylcarnitine is a primary marker for Medium-chain acyl-CoA dehydrogenase deficiency, Glutaric acidemia type II and Medium-chain ketoacyl-CoA thiolase deficiency.
Source: Regenstrief LOINC
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Glutarylcarnitine (C5-DC)+3-Hydroxyhexanoylcarnitine (C6-OH)/Octanoylcarnitine (C8)
- Property
- SRto
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- Glut+3OHhexanoylcarn/C8 DBS-sRto
- Display Name
- C5-DC+C6-OH/Octanoylcarnitine (C8) (DBS) [Molar ratio]
- Consumer Name Alpha Get Info
- C5-DC+C6-OH/Octanoylcarnitine (C8), Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.38
- Last Updated
- Version 2.73
- Order vs. Observation
- Observation
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 58092-8 | Acylcarnitine newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Glutarilcarnitina (C5-DC)+3-Hidroxihexanoilcarnitina (C6-OH)/Octanoilcarnitina (C8): Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Glutarilcarnitina (C5-DC) + 3-Hidroxihexanoilcarnitina (C6-OH) / Octanoilcarnitina (C8): |
| fr-FR | French (France) | Glutarylcarnitine (C5-DC)+3-hydroxyhexanoylcarnitine (C6-OH)/octanoylcarnitine (C8): |
| it-IT | Italian (Italy) | Glutarilcarnitina (C5-DC)+3-Idrossiesanoilcarnitina (C6-OH)/Octanoilcarnitina (C8): Synonyms: Chimica Punto nel tempo (episodio) Rapporto di sostanza Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | glutarylcarnitine (C5-DC) + 3-hydroxyhexanoylcarnitine (C6-OH)/octanoylcarnitine (C8): |
| ru-RU | Russian (Russian Federation) | Глутарилкарнитин (C5-DC)+3-Гидроксигексаноилкарнитин (C6-OH)/Октаноилкарнитин (C8): Synonyms: Количественный Кровь Кровь сухая капля Мольная доля; |
| tr-TR | Turkish (Turkey) | Glutarilkarnitin (C5-DC)+3-Hidroksihekzanoilkarnitin (C6-OH)/Oktanoilkarnitin (C8): Synonyms: SubsOranı |
| zh-CN | Chinese (China) | 戊二酰肉碱 (C5-DC)+3-羟基己酰肉碱 (C6-OH)/辛酰肉碱 (C8): Synonyms: 3-羟基己酰肉碱（肉毒碱、 |
Example Units
| Unit | Source |
|---|---|
| {Ratio} | Example UCUM Units |
45216-9 Isovalerylcarnitine+Methylbutyrylcarnitine (C5) [Moles/volume] in DBS
Part Descriptions
LP70195-0 Isovalerylcarnitine+Methylbutyrylcarnitine (C5)
Isovalerylcarnitine+Methylbutyrylcarnitine is a primary marker for Isovaleric acidemia, Glutaric acidemia type II, 2-Methylbutyrylglycinuria and Ethylmalonic encephalopathy.
Source: Regenstrief Institute
Observation Required in Panel
Conditional
Type of Entry
Question expects user entry - requires response [Q]
Fully-Specified Name
- Component
- Isovalerylcarnitine+Methylbutyrylcarnitine (C5)
- Property
- SCnc
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- Isovaleryl+MeButyrylcarn DBS-sCnc
- Display Name
- Isovalerylcarnitine+Methylbutyrylcarnitine (C5) (DBS) [Moles/Vol]
- Consumer Name Alpha Get Info
- Isovalerylcarnitine+Methylbutyrylcarnitine (C5), Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.17
- Last Updated
- Version 2.73
- Order vs. Observation
- Both
- Common Test Rank Get Info
- 18875
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 58092-8 | Acylcarnitine newborn screen panel |
| 53262-2 | Carnitine newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Isovalerilcarnitina+Metilbutirilcarnitina (C5): Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Isovalerilcarnitina + Metilbutirilcarnitina (C5): |
| et-EE | Estonian (Estonia) | isovalerüülkarnitiin + metüülbutürüülkarnitiin (C5): Synonyms: Aine kontsentratsioon Juhuslik Kvantitatiivne Veri |
| fr-CA | French (Canada) | Isovalérylcarnitine+Méthylbutyrylcarnitine (C5): |
| fr-FR | French (France) | Isovalérylcarnitine+méthylbutyrylcarnitine (C5): |
| fr-BE | French (Belgium) | Isovalérylcarnitine+Méthylbutyrylcarnitine (C5): |
| it-IT | Italian (Italy) | Isovalerilcarnitina+Metilbutirrilcarnitina (C5): Synonyms: Chimica Concentrazione di Sostanza Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | isovalerylcarnitine + methylbutyrylcarnitine (C5): |
| pt-BR | Portuguese (Brazil) | Isovalerilcarnitina+Metilbutirilcarnitina (C5): Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Изовалерилкарнитин+Метилбутирилкарнитин (C5): Synonyms: Количественный Кровь Кровь сухая капля Молярность; |
| tr-TR | Turkish (Turkey) | İzovalerilkarnitin+Metilbütirilkarnitin (C5): |
| zh-CN | Chinese (China) | 异戊酰肉碱+甲基丁酰肉碱 (C5): Synonyms: 克分子浓度; |
Example Units
| Unit | Source |
|---|---|
| umol/L | Example UCUM Units |
53238-2 Isovalerylcarnitine+Methylbutyrylcarnitine (C5)/Carnitine.free (C0) [Molar ratio] in DBS
Part Descriptions
LP32015-7 Carnitine.free (C0)
Carnitine.free is a primary marker for carnitine uptake defect, propionic acidemia, maternal carnitine uptake defect, carnitine palmitoyltransferase I deficiency and primary lactic acidemia (various types). It is also a secondary marker for maternal glutaric acidemia type I.
Source: Regenstrief LOINC
LP70195-0 Isovalerylcarnitine+Methylbutyrylcarnitine (C5)
Isovalerylcarnitine+Methylbutyrylcarnitine is a primary marker for Isovaleric acidemia, Glutaric acidemia type II, 2-Methylbutyrylglycinuria and Ethylmalonic encephalopathy.
Source: Regenstrief Institute
Observation Required in Panel
Conditional
Type of Entry
Question expects user entry - requires response [Q]
Fully-Specified Name
- Component
- Isovalerylcarnitine+Methylbutyrylcarnitine (C5)/Carnitine.free (C0)
- Property
- SRto
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- Isovaleryl+MeButyrylcarn/C0 DBS-sRto
- Display Name
- Isovalerylcarnitine+Methylbutyrylcarnitine (C5)/Carnitine.free (C0) (DBS) [Molar ratio]
- Consumer Name Alpha Get Info
- Isovalerylcarnitine+Methylbutyrylcarnitine (C5)/Free Carnitine (C0), Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.24
- Last Updated
- Version 2.73
- Order vs. Observation
- Both
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 58092-8 | Acylcarnitine newborn screen panel |
| 53262-2 | Carnitine newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Isovalerilcarnitina+Metilbutirilcarnitina (C5)/Carnitina libre: Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Isovalerilcarnitina + Metilbutirilcarnitina (C5) / Carnitina libre (C0): |
| fr-CA | French (Canada) | Isovalérylcarnitine+Méthylbutyrylcarnitine (C5)/Carnitine.libre (C0): |
| fr-FR | French (France) | Isovalérylcarnitine+méthylbutyrylcarnitine (C5)/carnitine libre (C0): |
| fr-BE | French (Belgium) | Isovalérylcarnitine+Méthylbutyrylcarnitine (C5)/Carnitine.libre (C0): |
| it-IT | Italian (Italy) | Isovalerilcarnitina+Metilbutirrilcarnitina (C5)/Carnitina.libera (C0): Synonyms: Carnitina libera (C0) Chimica Punto nel tempo (episodio) Rapporto di sostanza Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | isovalerylcarnitine + methylbutyrylcarnitine (C5)/carnitine.vrij (C0): |
| pt-BR | Portuguese (Brazil) | Isovalerilcarnitina+Metilbutirilcarnitina (C5)/Carnitina.livre (C0): Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Изовалерилкарнитин+Метилбутирилкарнитин (C5)/Карнитин.свободный(С0): Synonyms: Количественный Кровь Кровь сухая капля Мольная доля; |
| tr-TR | Turkish (Turkey) | İzovalerilkarnitin+Metilbütirilkarnitin (C5)/Karnitin.serb (C0): Synonyms: SubsOranı |
| zh-CN | Chinese (China) | 异戊酰肉碱+甲基丁酰肉碱 (C5)/肉碱.游离型 (C0): Synonyms: 全血斑点(滤纸); |
Example Units
| Unit | Source |
|---|---|
| {Ratio} | Example UCUM Units |
53239-0 Isovalerylcarnitine+Methylbutyrylcarnitine (C5)/Acetylcarnitine (C2) [Molar ratio] in DBS
Term Description
Isovalerylcarnitine+Methylbutyrylcarnitine/Acetylcarnitine is a primary marker for Isovaleric acidemia, Glutaric acidemia type II, 2-Methylbutyrylglycinuria and Ethylmalonic encephalopathy.
Source: Regenstrief LOINC
Part Descriptions
LP70165-3 Acetylcarnitine (C2)
Acetyl-L-carnitine or ALCAR, is an acetylated form of L-carnitine. ALCAR has been claimed to be superior to normal L-carnitine in terms of bioavailability. However, at least one study has suggested that the acetylated form may have a lower oral bioavailability.
Copyright Text is available under the Creative Commons Attribution/Share-Alike License. See http://creativecommons.org/licenses/by-sa/3.0/ for details.
Source: Wikipedia, Acetylcarnitine
LP70195-0 Isovalerylcarnitine+Methylbutyrylcarnitine (C5)
Isovalerylcarnitine+Methylbutyrylcarnitine is a primary marker for Isovaleric acidemia, Glutaric acidemia type II, 2-Methylbutyrylglycinuria and Ethylmalonic encephalopathy.
Source: Regenstrief Institute
Observation Required in Panel
Conditional
Type of Entry
Question expects user entry - requires response [Q]
Fully-Specified Name
- Component
- Isovalerylcarnitine+Methylbutyrylcarnitine (C5)/Acetylcarnitine (C2)
- Property
- SRto
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- Isovaleryl+MeButyrylcarn/C2 DBS-sRto
- Display Name
- Isovalerylcarnitine+Methylbutyrylcarnitine (C5)/Acetylcarnitine (C2) (DBS) [Molar ratio]
- Consumer Name Alpha Get Info
- Isovalerylcarnitine+Methylbutyrylcarnitine (C5)/Acetylcarnitine (C2), Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.24
- Last Updated
- Version 2.73
- Order vs. Observation
- Both
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 58092-8 | Acylcarnitine newborn screen panel |
| 53262-2 | Carnitine newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Isovalerilcarnitina+Metilbutirilcarnitina (C5)/Acetilcarnitina (C2): Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Isovalerilcarnitina + Metilbutirilcarnitina (C5) / Acetilcarnitina (C2): |
| fr-CA | French (Canada) | Isovalérylcarnitine+Méthylbutyrylcarnitine (C5)/Acétylcarnitine (C2): |
| fr-FR | French (France) | Isovalérylcarnitine+méthylbutyrylcarnitine (C5)/acétylcarnitine (C2): |
| fr-BE | French (Belgium) | Isovalérylcarnitine+Méthylbutyrylcarnitine (C5)/Acétylcarnitine (C2): |
| it-IT | Italian (Italy) | Isovalerilcarnitina+Metilbutirrilcarnitina (C5)/Acetilcarnitina (C2): Synonyms: Chimica Punto nel tempo (episodio) Rapporto di sostanza Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | isovalerylcarnitine + methylbutyrylcarnitine (C5)/acetylcarnitine (C2): |
| pt-BR | Portuguese (Brazil) | Isovalerilcarnitina+Metilbutirilcarnitina (C5)/Acetilcarnitina (C2): Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Изовалерилкарнитин+Метилбутирилкарнитин (C5)/Ацетилкарнитин (C2): Synonyms: Количественный Кровь Кровь сухая капля Мольная доля; |
| tr-TR | Turkish (Turkey) | İzovalerilkarnitin+Metilbütirilkarnitin (C5)/Asetilkarnitin (C2): Synonyms: SubsOranı |
| zh-CN | Chinese (China) | 异戊酰肉碱+甲基丁酰肉碱 (C5)/乙酰肉碱 (C2): Synonyms: 乙酰肉碱（肉毒碱、 |
Example Units
| Unit | Source |
|---|---|
| {Ratio} | Example UCUM Units |
53240-8 Isovalerylcarnitine+Methylbutyrylcarnitine (C5)/Propionylcarnitine (C3) [Molar ratio] in DBS
Term Description
Isovalerylcarnitine+Methylbutyrylcarnitine/Propionylcarnitine is a primary marker for Isovaleric acidemia, Glutaric acidemia type II, 2-Methylbutyrylglycinuria and Ethylmalonic encephalopathy.
Source: Regenstrief LOINC
Part Descriptions
LP70195-0 Isovalerylcarnitine+Methylbutyrylcarnitine (C5)
Isovalerylcarnitine+Methylbutyrylcarnitine is a primary marker for Isovaleric acidemia, Glutaric acidemia type II, 2-Methylbutyrylglycinuria and Ethylmalonic encephalopathy.
Source: Regenstrief Institute
LP70306-3 Propionylcarnitine (C3)
Propionylcarnitine is a primary marker for Propionic acidemia, Methylmalonic acidemia (mut), Methylmalonic acidemia (Cbl A, B), Methylmalonic aciduria and homocystinuria, and Succinyl-CoA ligase deficiency. Secondary marker for Multiple carboxylase deficiency.
Source: Regenstrief LOINC
Observation Required in Panel
Conditional
Type of Entry
Question expects user entry - requires response [Q]
Fully-Specified Name
- Component
- Isovalerylcarnitine+Methylbutyrylcarnitine (C5)/Propionylcarnitine (C3)
- Property
- SRto
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- Isovaleryl+MeButyrylcarn/C3 DBS-sRto
- Display Name
- Isovalerylcarnitine+Methylbutyrylcarnitine (C5)/Propionylcarnitine (C3) (DBS) [Molar ratio]
- Consumer Name Alpha Get Info
- Isovalerylcarnitine+Methylbutyrylcarnitine (C5)/Propionylcarnitine (C3), Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.24
- Last Updated
- Version 2.73
- Order vs. Observation
- Both
- Common Test Rank Get Info
- 16602
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 58092-8 | Acylcarnitine newborn screen panel |
| 53262-2 | Carnitine newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Isovalerilcarnitina+Metilbutirilcarnitina (C5)/Propionilcarnitina (C39: Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Isovalerilcarnitina + Metilbutirilcarnitina (C5) / Propionilcarnitina (C3): |
| fr-CA | French (Canada) | Isovalérylcarnitine+Méthylbutyrylcarnitine (C5)/Propionylcarnitine (C3): |
| fr-FR | French (France) | Isovalérylcarnitine+méthylbutyrylcarnitine (C5)/propionylcarnitine (C3): |
| fr-BE | French (Belgium) | Isovalérylcarnitine+Méthylbutyrylcarnitine (C5)/Propionylcarnitine (C3): |
| it-IT | Italian (Italy) | Isovalerilcarnitina+Metilbutirrilcarnitina (C5)/Propionilcarnitina (C3): Synonyms: Chimica Punto nel tempo (episodio) Rapporto di sostanza Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | isovalerylcarnitine + methylbutyrylcarnitine (C5)/propionylcarnitine (C3): |
| pt-BR | Portuguese (Brazil) | Isovalerilcarnitina+Metilbutirilcarnitina (C5)/Propionilcarnitina (C3): Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Изовалерилкарнитин+Метилбутирилкарнитин (C5)/Пропионилкарнитин (C3): Synonyms: Количественный Кровь Кровь сухая капля Мольная доля; |
| tr-TR | Turkish (Turkey) | İzovalerilkarnitin+Metilbütirilkarnitin (C5)/Propiyonilkarnitin (C3): Synonyms: SubsOranı |
| zh-CN | Chinese (China) | 异戊酰肉碱+甲基丁酰肉碱 (C5)/丙酰肉碱 (C3): Synonyms: 丙酰肉碱（肉毒碱、 |
Example Units
| Unit | Source |
|---|---|
| {Ratio} | Example UCUM Units |
53401-6 Isovalerylcarnitine+Methylbutyrylcarnitine (C5)/Octanoylcarnitine (C8) [Molar ratio] in DBS
Part Descriptions
LP70166-1 Octanoylcarnitine (C8)
Octanoylcarnitine is a primary marker for Medium-chain acyl-CoA dehydrogenase deficiency, Glutaric acidemia type II and Medium-chain ketoacyl-CoA thiolase deficiency.
Source: Regenstrief LOINC
LP70195-0 Isovalerylcarnitine+Methylbutyrylcarnitine (C5)
Isovalerylcarnitine+Methylbutyrylcarnitine is a primary marker for Isovaleric acidemia, Glutaric acidemia type II, 2-Methylbutyrylglycinuria and Ethylmalonic encephalopathy.
Source: Regenstrief Institute
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Isovalerylcarnitine+Methylbutyrylcarnitine (C5)/Octanoylcarnitine (C8)
- Property
- SRto
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- Isovaleryl+MeButyrylcarn/C8 DBS-sRto
- Display Name
- Isovalerylcarnitine+Methylbutyrylcarnitine (C5)/Octanoylcarnitine (C8) (DBS) [Molar ratio]
- Consumer Name Alpha Get Info
- Isovalerylcarnitine+Methylbutyrylcarnitine (C5)/Octanoylcarnitine (C8), Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.24
- Last Updated
- Version 2.73
- Order vs. Observation
- Observation
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 58092-8 | Acylcarnitine newborn screen panel |
| 53262-2 | Carnitine newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Isovalerilcarnitina+Metilbutirilcarnitina (C5)/Octanoilcarnitina (C8): Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Isovalerilcarnitina + Metilbutirilcarnitina (C5) / Octanoilcarnitina (C8): |
| fr-CA | French (Canada) | Isovalérylcarnitine+Méthylbutyrylcarnitine (C5)/Octanoylcarnitine (C8): |
| fr-FR | French (France) | Isovalérylcarnitine+méthylbutyrylcarnitine (C5)/octanoylcarnitine (C8): |
| fr-BE | French (Belgium) | Isovalérylcarnitine+Méthylbutyrylcarnitine (C5)/Octanoylcarnitine (C8): |
| it-IT | Italian (Italy) | Isovalerilcarnitina+Metilbutirrilcarnitina (C5)/Octanoilcarnitina (C8): Synonyms: Chimica Punto nel tempo (episodio) Rapporto di sostanza Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | isovalerylcarnitine + methylbutyrylcarnitine (C5)/octanoylcarnitine (C8): |
| pt-BR | Portuguese (Brazil) | Isovalerilcarnitina+Metilbutirilcarnitina (C5)/Octanoilcarnitina (C8): Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Изовалерилкарнитин+Метилбутирилкарнитин (C5)/Октаноилкарнитин (C8): Synonyms: Количественный Кровь Кровь сухая капля Мольная доля; |
| tr-TR | Turkish (Turkey) | İzovalerilkarnitin+Metilbütirilkarnitin (C5)/Oktanoilkarnitin (C8): Synonyms: SubsOranı |
| zh-CN | Chinese (China) | 异戊酰肉碱+甲基丁酰肉碱 (C5)/辛酰肉碱 (C8): Synonyms: 全血斑点(滤纸); |
Example Units
| Unit | Source |
|---|---|
| {Ratio} | Example UCUM Units |
50106-4 3-Hydroxyisovalerylcarnitine (C5-OH) [Moles/volume] in DBS
Part Descriptions
LP19309-1 3-Hydroxyisovalerylcarnitine (C5-OH)
3-Hydroxyisovalerylcarnitine is a primary marker for 3-Methylcrotonyl-CoA carboxylase deficiency, Beta-Ketothiolase deficiency, Multiple carboxylase deficiency, 3-Hydroxy-3-methylglutaric aciduria, 2-Methyl-3-hydroxybutyric aciduria, Maternal 3-Methylcrotonyl-CoA carboxylase deficiency, and 2-Methylbutyrylglycinuria.
Source: Regenstrief LOINC
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- 3-Hydroxyisovalerylcarnitine (C5-OH)
- Property
- SCnc
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- 3OH-Isovalerylcarn DBS-sCnc
- Display Name
- 3-Hydroxyisovalerylcarnitine (C5-OH) (DBS) [Moles/Vol]
- Consumer Name Alpha Get Info
- 3-Hydroxyisovalerylcarnitine (C5-OH), Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.22
- Last Updated
- Version 2.73
- Order vs. Observation
- Both
- Common Test Rank Get Info
- 17950
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 58092-8 | Acylcarnitine newborn screen panel |
| 53262-2 | Carnitine newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | 3-Hidroxiisovalerilcarnitina (C5-OH): Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | 3-hidroxiisovalerilcarnitina (C5-OH): |
| et-EE | Estonian (Estonia) | 3-hüdroksüisovalerüülkarnitiin (C5-OH): Synonyms: Aine kontsentratsioon Juhuslik Kvantitatiivne Veri |
| fr-CA | French (Canada) | 3-hydroxyisovalérylcarnitine (C5-OH): |
| fr-FR | French (France) | 3-hydroxyisovalérylcarnitine (C5-OH): |
| fr-BE | French (Belgium) | 3-hydroxyisovalérylcarnitine (C5-OH): |
| it-IT | Italian (Italy) | 3-Idrossiisovalerilcarnitina (C5-OH): Synonyms: Chimica Concentrazione di Sostanza Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | 3-hydroxyisovalerylcarnitine (C5-OH): |
| pt-BR | Portuguese (Brazil) | 3-Hidroxisovalerilcarnitina (C5-OH): Synonyms: ; |
| ru-RU | Russian (Russian Federation) | 3-Гидроксиизовалерилкарнитин (C5-OH): Synonyms: Количественный Кровь Кровь сухая капля Молярность; |
| tr-TR | Turkish (Turkey) | 3-Hidroksiizovalerilkarnitin (C5-OH): |
| zh-CN | Chinese (China) | 3-羟基异戊酰肉碱 (C5-OH): Synonyms: 3-羟基异戊酰肉碱（肉毒碱、 |
Example Units
| Unit | Source |
|---|---|
| umol/L | Example UCUM Units |
53171-5 3-Hydroxyisovalerylcarnitine (C5-OH)/Carnitine.free (C0) [Molar ratio] in DBS
Term Description
3-Hydroxyisovalerylcarnitine/Carnitine.free is a primary marker for 3-Methylcrotonyl-CoA carboxylase deficiency, Beta-Ketothiolase deficiency, Multiple carboxylase deficiency, 3-Hydroxy-3-methylglutaric aciduria, 2-Methyl-3-hydroxybutyric aciduria, Maternal 3-Methylcrotonyl-CoA carboxylase deficiency, and 2-Methylbutyrylglycinuria. Secondary marker for 3-Methylcrotonyl-CoA carboxylase deficiency, Beta-Ketothiolase deficiency, Multiple carboxylase deficiency, and 3-Hydroxy-3-methylglutaric aciduria.
Source: Regenstrief LOINC
Part Descriptions
LP19309-1 3-Hydroxyisovalerylcarnitine (C5-OH)
3-Hydroxyisovalerylcarnitine is a primary marker for 3-Methylcrotonyl-CoA carboxylase deficiency, Beta-Ketothiolase deficiency, Multiple carboxylase deficiency, 3-Hydroxy-3-methylglutaric aciduria, 2-Methyl-3-hydroxybutyric aciduria, Maternal 3-Methylcrotonyl-CoA carboxylase deficiency, and 2-Methylbutyrylglycinuria.
Source: Regenstrief LOINC
LP32015-7 Carnitine.free (C0)
Carnitine.free is a primary marker for carnitine uptake defect, propionic acidemia, maternal carnitine uptake defect, carnitine palmitoyltransferase I deficiency and primary lactic acidemia (various types). It is also a secondary marker for maternal glutaric acidemia type I.
Source: Regenstrief LOINC
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- 3-Hydroxyisovalerylcarnitine (C5-OH)/Carnitine.free (C0)
- Property
- SRto
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- 3OH-Isovalerylcarn/C0 DBS-sRto
- Display Name
- 3-Hydroxyisovalerylcarnitine (C5-OH)/Carnitine.free (C0) (DBS) [Molar ratio]
- Consumer Name Alpha Get Info
- 3-Hydroxyisovalerylcarnitine (C5-OH)/Free Carnitine (C0), Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.24
- Last Updated
- Version 2.73
- Order vs. Observation
- Both
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 58092-8 | Acylcarnitine newborn screen panel |
| 53262-2 | Carnitine newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | 3-Hidroxiisovalerilcarnitina (C5-OH)/Carnitina libre: Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | 3-hidroxiisovalerilcarnitina (C5-OH) / carnitina libre (C0): |
| fr-CA | French (Canada) | 3-hydroxyisovalérylcarnitine (C5-OH): |
| fr-FR | French (France) | 3-hydroxyisovalérylcarnitine (C5-OH)/carnitine libre (C0): |
| fr-BE | French (Belgium) | 3-hydroxyisovalérylcarnitine (C5-OH)/Carnitine.libre (C0): |
| it-IT | Italian (Italy) | 3-Idrossiisovalerilcarnitina (C5-OH)/Carnitina.libera (C0): Synonyms: Carnitina libera (C0) Chimica Punto nel tempo (episodio) Rapporto di sostanza Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | 3-hydroxyisovalerylcarnitine (C5-OH)/carnitine.vrij (C0): |
| pt-BR | Portuguese (Brazil) | 3-Hidroxisovalerilcarnitina (C5-OH)/Carnitina.livre (C0): Synonyms: ; |
| ru-RU | Russian (Russian Federation) | 3-Гидроксиизовалерилкарнитин (C5-OH)/Карнитин.свободный(С0): Synonyms: Количественный Кровь Кровь сухая капля Мольная доля; |
| tr-TR | Turkish (Turkey) | 3-Hidroksiizovalerilkarnitin (C5-OH)/Karnitin.serb (C0): Synonyms: SubsOranı |
| zh-CN | Chinese (China) | 3-羟基异戊酰肉碱 (C5-OH)/肉碱.游离型 (C0): Synonyms: 3-羟基异戊酰肉碱（肉毒碱、 |
Example Units
| Unit | Source |
|---|---|
| {Ratio} | Example UCUM Units |
53172-3 3-Hydroxyisovalerylcarnitine (C5-OH)/Octanoylcarnitine (C8) [Molar ratio] in DBS
Term Description
3-Hydroxyisovalerylcarnitine/Octanoylcarnitine is a primary marker for 3-Methylcrotonyl-CoA carboxylase deficiency, Beta-Ketothiolase deficiency, Multiple carboxylase deficiency, 3-Hydroxy-3-methylglutaric aciduria, 2-Methyl-3-hydroxybutyric aciduria, Maternal 3-Methylcrotonyl-CoA carboxylase deficiency, and 2-Methylbutyrylglycinuria.
Source: Regenstrief LOINC
Part Descriptions
LP19309-1 3-Hydroxyisovalerylcarnitine (C5-OH)
3-Hydroxyisovalerylcarnitine is a primary marker for 3-Methylcrotonyl-CoA carboxylase deficiency, Beta-Ketothiolase deficiency, Multiple carboxylase deficiency, 3-Hydroxy-3-methylglutaric aciduria, 2-Methyl-3-hydroxybutyric aciduria, Maternal 3-Methylcrotonyl-CoA carboxylase deficiency, and 2-Methylbutyrylglycinuria.
Source: Regenstrief LOINC
LP70166-1 Octanoylcarnitine (C8)
Octanoylcarnitine is a primary marker for Medium-chain acyl-CoA dehydrogenase deficiency, Glutaric acidemia type II and Medium-chain ketoacyl-CoA thiolase deficiency.
Source: Regenstrief LOINC
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- 3-Hydroxyisovalerylcarnitine (C5-OH)/Octanoylcarnitine (C8)
- Property
- SRto
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- 3OH-Isovalerylcarn/C8 DBS-sRto
- Display Name
- 3-Hydroxyisovalerylcarnitine (C5-OH)/Octanoylcarnitine (C8) (DBS) [Molar ratio]
- Consumer Name Alpha Get Info
- 3-Hydroxyisovalerylcarnitine (C5-OH)/Octanoylcarnitine (C8), Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.24
- Last Updated
- Version 2.73
- Order vs. Observation
- Both
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 58092-8 | Acylcarnitine newborn screen panel |
| 53262-2 | Carnitine newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | 3-Hidroxiisovalerilcarnitina (C5-OH)/Octanoilcarnitina (C8): Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | 3-hidroxiisovalerilcarnitina (C5-OH) / octanoilcarnitina (C8): |
| fr-CA | French (Canada) | 3-hydroxyisovalérylcarnitine (C5-OH): |
| fr-FR | French (France) | 3-hydroxyisovalérylcarnitine (C5-OH)/octanoylcarnitine (C8): |
| fr-BE | French (Belgium) | 3-hydroxyisovalérylcarnitine (C5-OH)/Octanoylcarnitine (C8): |
| it-IT | Italian (Italy) | 3-Idrossiisovalerilcarnitina (C5-OH)/Octanoilcarnitina (C8): Synonyms: Chimica Punto nel tempo (episodio) Rapporto di sostanza Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | 3-hydroxyisovalerylcarnitine (C5-OH)/octanoylcarnitine (C8): |
| pt-BR | Portuguese (Brazil) | 3-Hidroxisovalerilcarnitina (C5-OH): Synonyms: ; |
| ru-RU | Russian (Russian Federation) | 3-Гидроксиизовалерилкарнитин (C5-OH)/Октаноилкарнитин (C8): Synonyms: Количественный Кровь Кровь сухая капля Мольная доля; |
| tr-TR | Turkish (Turkey) | 3-Hidroksiizovalerilkarnitin (C5-OH)/Oktanoilkarnitin (C8): Synonyms: SubsOranı |
| zh-CN | Chinese (China) | 3-羟基异戊酰肉碱 (C5-OH)/辛酰肉碱 (C8): Synonyms: 3-羟基异戊酰肉碱（肉毒碱、 |
Example Units
| Unit | Source |
|---|---|
| {Ratio} | Example UCUM Units |
53178-0 3-Hydroxyoctanoylcarnitine (C8-OH)+Malonylcarnitine (C3-DC) [Moles/volume] in DBS
Part Descriptions
LP70084-6 3-Hydroxyoctanoylcarnitine (C8-OH)+Malonylcarnitine (C3-DC)
3-Hydroxyoctanoylcarnitine+Malonylcarnitine is a primary marker for Malonic acidemia and Medium-chain ketoacyl-CoA thiolase deficiency.
Source: Regenstrief LOINC
Observation Required in Panel
Conditional
Type of Entry
Question expects user entry - requires response [Q]
Fully-Specified Name
- Component
- 3-Hydroxyoctanoylcarnitine (C8-OH)+Malonylcarnitine (C3-DC)
- Property
- SCnc
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- 3OHoctanoyl+Malonylcarn DBS-sCnc
- Display Name
- C8-OH+C3-DC (DBS) [Moles/Vol]
- Consumer Name Alpha Get Info
- C8-OH+C3-DC, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.24
- Last Updated
- Version 2.70
- Order vs. Observation
- Both
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 58092-8 | Acylcarnitine newborn screen panel |
| 53262-2 | Carnitine newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | 3-Hidroxioctanoilcarnitina (C8-OH)+Malonilcarnitina (C3-DC): Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | 3-hidroxioctanoilcarnitina (C8-OH) + malonilcarnitina (C3-DC): |
| et-EE | Estonian (Estonia) | 3-hüdroksüoktanoüülkarnitiin (C8-OH) + malonüülkarnitiin (C3-DC): Synonyms: Aine kontsentratsioon Juhuslik Kvantitatiivne Veri |
| fr-CA | French (Canada) | 3-hydroxyoctanoylcarnitine (C8-OH)+ Malonylcarnitine (C3-DC): Synonyms: #REF! |
| fr-FR | French (France) | 3-hydroxyoctanoylcarnitine (C8-OH)+malonylcarnitine (C3-DC): |
| fr-BE | French (Belgium) | 3-Hydroxyoctanoylcarnitine (C8-OH)+Malonylcarnitine (C3-DC): |
| it-IT | Italian (Italy) | 3-Idrossiottanoilcarnitina (C8-OH)+Malonilcarnitina (C3-DC): Synonyms: Chimica Concentrazione di Sostanza Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | 3-hydroxyoctanoylcarnitine (C8-OH) + malonylcarnitine (C3-DC): |
| pt-BR | Portuguese (Brazil) | 3-Hidroxioctanoilcarnitina (C8-OH)+Malonilcarnitina (C3-DC): Synonyms: ; |
| ru-RU | Russian (Russian Federation) | 3-Гидроксиоктаноилкарнитин (C8-OH)+Малонилкарнитин (C3-DC): Synonyms: Количественный Кровь Кровь сухая капля Молярность; |
| tr-TR | Turkish (Turkey) | 3-Hidroksioktanoilkarnitin (C8-OH)+Malonylkarnitin (C3-DC): |
| zh-CN | Chinese (China) | 3-羟基辛酰基肉碱 (C8-OH)+丙二酰肉碱 (C3-DC): Synonyms: 3-羟基辛酰基肉碱（肉毒碱、 |
Example Units
| Unit | Source |
|---|---|
| umol/L | Example UCUM Units |
53402-4 3-Hydroxyoctanoylcarnitine (C8-OH)+Malonylcarnitine (C3-DC)/Butyrylcarnitine+Isobutyrylcarnitine (C4) [Molar ratio] in DBS
Part Descriptions
LP70084-6 3-Hydroxyoctanoylcarnitine (C8-OH)+Malonylcarnitine (C3-DC)
3-Hydroxyoctanoylcarnitine+Malonylcarnitine is a primary marker for Malonic acidemia and Medium-chain ketoacyl-CoA thiolase deficiency.
Source: Regenstrief LOINC
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- 3-Hydroxyoctanoylcarnitine (C8-OH)+Malonylcarnitine (C3-DC)/Butyrylcarnitine+Isobutyrylcarnitine (C4)
- Property
- SRto
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- 3OHoctanoyl+Malonylcarn/C4 DBS-sRto
- Display Name
- C8-OH+C3-DC/Butyrylcarnitine+Isobutyrylcarnitine (C4) (DBS) [Molar ratio]
- Consumer Name Alpha Get Info
- C8-OH+C3-DC/Butyrylcarnitine+Isobutyrylcarnitine (C4), Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.24
- Last Updated
- Version 2.70
- Order vs. Observation
- Observation
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 58092-8 | Acylcarnitine newborn screen panel |
| 53262-2 | Carnitine newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | 3-Hidroxioctanoilcarnitina (C8-OH)+Malonilcarnitina (C3-DC)/Butirilcarnitina + Isobutirilcarnitina (C4): Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | 3-hidroxioctanoilcarnitina (C8-OH) + malonilcarnitina (C3-DC) / butirilcarnitina + isobutirilcarnitina (C4): |
| fr-CA | French (Canada) | 3-hydroxyoctanoylcarnitine (C8-OH)+ Malonylcarnitine (C3-DC)/Butyrylcarnitine+Isobutyrylcarnitine (C4): Synonyms: #REF! |
| fr-FR | French (France) | 3-hydroxyoctanoylcarnitine (C8-OH)+malonylcarnitine (C3-DC)/butyrylcarnitine+isobutyrylcarnitine (C4): |
| fr-BE | French (Belgium) | 3-Hydroxyoctanoylcarnitine (C8-OH)+Malonylcarnitine (C3-DC)/Butyrylcarnitine+Isobutyrylcarnitine (C4): |
| it-IT | Italian (Italy) | 3-Idrossiottanoilcarnitina (C8-OH)+Malonilcarnitina (C3-DC)/Butirrilcarnitina+Isobutirrilcarnitina (C4): Synonyms: Chimica Punto nel tempo (episodio) Rapporto di sostanza Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | 3-hydroxyoctanoylcarnitine (C8-OH) + malonylcarnitine (C3-DC)/butyrylcarnitine + isobutyrylcarnitine (C4): |
| pt-BR | Portuguese (Brazil) | 3-Hidroxioctanoilcarnitina (C8-OH)+Malonilcarnitina (C3-DC)/Butirilcarnitina+Isobutirilcarnitina (C4): Synonyms: ; |
| ru-RU | Russian (Russian Federation) | 3-Гидроксиоктаноилкарнитин (C8-OH)+Малонилкарнитин (C3-DC)/Бутирилкарнитин+Изобутирилкарнитин (C4): Synonyms: Количественный Кровь Кровь сухая капля Мольная доля; |
| tr-TR | Turkish (Turkey) | 3-Hidroksioktanoilkarnitin (C8-OH)+Malonylkarnitin (C3-DC)/Bütirilkarnitin+izobütirilkarnitin (C4): Synonyms: SubsOranı |
| zh-CN | Chinese (China) | 3-羟基辛酰基肉碱 (C8-OH)+丙二酰肉碱 (C3-DC)/丁酰肉碱+异丁酰肉碱 (C4): Synonyms: 3-羟基辛酰基肉碱（肉毒碱、 |
Example Units
| Unit | Source |
|---|---|
| {Ratio} | Example UCUM Units |
53179-8 3-Hydroxyoctanoylcarnitine (C8-OH)+Malonylcarnitine (C3-DC)/Decanoylcarnitine (C10) [Molar ratio] in DBS
Term Description
3-Hydroxyoctanoylcarnitine+Malonylcarnitine/Decanoylcarnitine is a primary marker for Malonic acidemia and Medium-chain ketoacyl-CoA thiolase deficiency.
Source: Regenstrief LOINC
Part Descriptions
LP70084-6 3-Hydroxyoctanoylcarnitine (C8-OH)+Malonylcarnitine (C3-DC)
3-Hydroxyoctanoylcarnitine+Malonylcarnitine is a primary marker for Malonic acidemia and Medium-chain ketoacyl-CoA thiolase deficiency.
Source: Regenstrief LOINC
LP70167-9 Decanoylcarnitine (C10)
Decanoylcarnitine is a primary marker for Medium-chain acyl-CoA dehydrogenase deficiency and Glutaric acidemia type II. Secondary marker for Medium-chain ketoacyl-CoA thiolase deficiency.
Source: Regenstrief LOINC
Observation Required in Panel
Conditional
Type of Entry
Question expects user entry - requires response [Q]
Fully-Specified Name
- Component
- 3-Hydroxyoctanoylcarnitine (C8-OH)+Malonylcarnitine (C3-DC)/Decanoylcarnitine (C10)
- Property
- SRto
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- 3OHoctanoyl+Malonylcarn/C10 DBS-sRto
- Display Name
- C8-OH+C3-DC/Decanoylcarnitine (C10) (DBS) [Molar ratio]
- Consumer Name Alpha Get Info
- C8-OH+C3-DC/Decanoylcarnitine (C10), Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.24
- Last Updated
- Version 2.61
- Order vs. Observation
- Both
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 58092-8 | Acylcarnitine newborn screen panel |
| 53262-2 | Carnitine newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | 3-Hidroxioctanoilcarnitina (C8-OH)+Malonilcarnitina (C3-DC)/Decanoilcarnitina (C10): Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | 3-hidroxioctanoilcarnitina (C8-OH) + malonilcarnitina (C3-DC) / decanoilcarnitina (C10): |
| fr-CA | French (Canada) | 3-hydroxyoctanoylcarnitine (C8-OH)+ Malonylcarnitine (C3-DC)/Décanoylcarnitine (C10): Synonyms: #REF! |
| fr-FR | French (France) | 3-hydroxyoctanoylcarnitine (C8-OH)+malonylcarnitine (C3-DC)/décanoylcarnitine (C10): |
| fr-BE | French (Belgium) | 3-Hydroxyoctanoylcarnitine (C8-OH)+Malonylcarnitine (C3-DC)/Décanoylcarnitine (C10): |
| it-IT | Italian (Italy) | 3-Idrossiottanoilcarnitina (C8-OH)+Malonilcarnitina (C3-DC)/Decanoilcarnitina (C10): Synonyms: Chimica Punto nel tempo (episodio) Rapporto di sostanza Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | 3-hydroxyoctanoylcarnitine (C8-OH) + malonylcarnitine (C3-DC)/decanoylcarnitine (C10): |
| pt-BR | Portuguese (Brazil) | 3-Hidroxioctanoilcarnitina (C8-OH)+Malonilcarnitina (C3-DC)/Decanoilcarnitina (C10): Synonyms: ; |
| ru-RU | Russian (Russian Federation) | 3-Гидроксиоктаноилкарнитин (C8-OH)+Малонилкарнитин (C3-DC)/Деканоилкарнитин (C10): Synonyms: Количественный Кровь Кровь сухая капля Мольная доля; |
| tr-TR | Turkish (Turkey) | 3-Hidroksioktanoilkarnitin (C8-OH)+Malonylkarnitin (C3-DC)/Dekanoilkarnitin (C10): Synonyms: SubsOranı |
| zh-CN | Chinese (China) | 3-羟基辛酰基肉碱 (C8-OH)+丙二酰肉碱 (C3-DC)/癸酰肉碱 (C10): Synonyms: 3-羟基辛酰基肉碱（肉毒碱、 |
Example Units
| Unit | Source |
|---|---|
| {Ratio} | Example UCUM Units |
45222-7 Methylmalonylcarnitine (C4-DC) [Moles/volume] in DBS
Part Descriptions
LP19311-7 Methylmalonylcarnitine (C4-DC)
Methylmalonylcarnitine is a primary marker for Succinyl-CoA ligase deficiency. Secondary marker for Methylmalonic acidemia (mut), Methylmalonic acidemia (Cbl A, B), Methylmalonic aciduria and homocystinuria.
Source: Regenstrief Institute
Observation Required in Panel
Conditional
Type of Entry
Question expects user entry - requires response [Q]
Fully-Specified Name
- Component
- Methylmalonylcarnitine (C4-DC)
- Property
- SCnc
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- Me-malonylcarn DBS-sCnc
- Display Name
- C4-DC (DBS) [Moles/Vol]
- Consumer Name Alpha Get Info
- C4-DC, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.17
- Last Updated
- Version 2.73
- Order vs. Observation
- Both
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 58092-8 | Acylcarnitine newborn screen panel |
| 53262-2 | Carnitine newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Metilmalonilcarnitina (C4-DC): Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Metilmalonilcarnitina (C4-DC): |
| et-EE | Estonian (Estonia) | Metüülmalonüülkarnitiin (C4-DC): Synonyms: Aine kontsentratsioon Juhuslik Kvantitatiivne Veri |
| fr-CA | French (Canada) | Méthylmalonylcarnitine (C4-DC): |
| fr-FR | French (France) | Méthylmalonylcarnitine (C4-DC): |
| fr-BE | French (Belgium) | Méthylmalonylcarnitine (C4-DC): |
| it-IT | Italian (Italy) | Metilmalonilcarnitina (C4-DC): Synonyms: Chimica Concentrazione di Sostanza Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | methylmalonylcarnitine (C4-DC): |
| pt-BR | Portuguese (Brazil) | Metilmalonilcarnitina (C4-DC): Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Метилмалонилкарнитин (C4-DC): Synonyms: Количественный Кровь Кровь сухая капля Молярность; |
| tr-TR | Turkish (Turkey) | Metilmalonilkarnitin (C4-DC): |
| zh-CN | Chinese (China) | 甲基丙二酰肉碱 (C4-DC): Synonyms: 克分子浓度; |
Example Units
| Unit | Source |
|---|---|
| umol/L | Example UCUM Units |
67709-6 Methylmalonylcarnitine (C4-DC)+3-Hydroxyisovalerylcarnitine (C5-OH) [Moles/volume] in DBS
Term Description
This analyte is measured using the non-derivatized tandem mass spectrometry (MS/MS) method and is not measured when using the derivatized reagents. When using the derivatized reagents, it will instead be measured as two separate analytes C4-DC [LOINC: 45222-7] and C5-OH [LOINC: 50106-4]. A different LOINC code is used for the derivatized or non-derivatized method because based on the reagents used in processing, different sets of analytes become isobaric, which means that they cannot be distinguished on the MS/MS because they have the same molecular weight after reagent processing.
Source: Regenstrief LOINC
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Methylmalonylcarnitine (C4-DC)+3-Hydroxyisovalerylcarnitine (C5-OH)
- Property
- SCnc
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- C4-DC+C5-OH DBS-sCnc
- Display Name
- C4-DC+C5-OH (DBS) [Moles/Vol]
- Consumer Name Alpha Get Info
- C4-DC+C5-OH, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.38
- Last Updated
- Version 2.73
- Order vs. Observation
- Both
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 58092-8 | Acylcarnitine newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Metilmalonilcarnitina (C4-DC)+3-Hidroxiisovalerilcarnitina (C5-OH): Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Metilmalonilcarnitina (C4-DC) + 3-Hidroxiisovalerilcarnitina (C5-OH): |
| fr-CA | French (Canada) | Méthylmalonylcarnitine (C4-DC)+3-hydroxyisovalérylcarnitine (C5-OH): |
| fr-FR | French (France) | Méthylmalonylcarnitine (C4-DC)+3-hydroxyisovalerylcarnitine (C5-OH): |
| it-IT | Italian (Italy) | Metilmalonilcarnitina (C4-DC)+3-Idrossiisovalerilcarnitina (C5-OH): Synonyms: Chimica Concentrazione di Sostanza Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | methylmalonylcarnitine (C4-DC) + 3-hydroxyisovalerylcarnitine (C5-OH): |
| ru-RU | Russian (Russian Federation) | Метилмалонилкарнитин (C4-DC)+3-Гидроксиизовалерилкарнитин (C5-OH): Synonyms: Количественный Кровь Кровь сухая капля Молярность; |
| tr-TR | Turkish (Turkey) | Metilmalonilkarnitin (C4-DC)+3-Hidroksiizovalerilkarnitin (C5-OH): |
| zh-CN | Chinese (China) | 甲基丙二酰肉碱 (C4-DC)+3-羟基异戊酰肉碱 (C5-OH): Synonyms: 3-羟基异戊酰肉碱（肉毒碱、 |
Example Units
| Unit | Source |
|---|---|
| umol/L | Example UCUM Units |
53181-4 Methylmalonylcarnitine (C4-DC)/3-Hydroxyisovalerylcarnitine (C5-OH) [Molar ratio] in DBS
Term Description
Methylmalonylcarnitine/3-Hydroxyisovalerylcarnitine is a primary marker for Succinyl-CoA ligase deficiency. Secondary marker for Methylmalonic acidemia (mut), Methylmalonic acidemia (Cbl A, B), Methylmalonic aciduria and homocystinuria.
Source: Regenstrief LOINC
Part Descriptions
LP19311-7 Methylmalonylcarnitine (C4-DC)
Methylmalonylcarnitine is a primary marker for Succinyl-CoA ligase deficiency. Secondary marker for Methylmalonic acidemia (mut), Methylmalonic acidemia (Cbl A, B), Methylmalonic aciduria and homocystinuria.
Source: Regenstrief Institute
LP70356-8 3-Hydroxyisovalerylcarnitine (C5-OH)
3-Hydroxyisovalerylcarnitine is a primary marker for 3-Methylcrotonyl-CoA carboxylase deficiency, Beta-Ketothiolase deficiency, Multiple carboxylase deficiency, 3-Hydroxy-3-methylglutaric aciduria, 2-Methyl-3-hydroxybutyric aciduria, Maternal 3-Methylcrotonyl-CoA carboxylase deficiency, and 2-Methylbutyrylglycinuria.
Source: Regenstrief LOINC
Observation Required in Panel
Conditional
Type of Entry
Question expects user entry - requires response [Q]
Fully-Specified Name
- Component
- Methylmalonylcarnitine (C4-DC)/3-Hydroxyisovalerylcarnitine (C5-OH)
- Property
- SRto
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- Me-malonylcarn/C5OH DBS-sRto
- Display Name
- C4-DC/3-Hydroxyisovalerylcarnitine (C5-OH) (DBS) [Molar ratio]
- Consumer Name Alpha Get Info
- C4-DC/3-Hydroxyisovalerylcarnitine (C5-OH), Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.24
- Last Updated
- Version 2.73
- Order vs. Observation
- Both
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 58092-8 | Acylcarnitine newborn screen panel |
| 53262-2 | Carnitine newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Metilmalonilcarnitina (C4-DC)/3-Hidroxiisovalerilcarnitina (C5-OH): Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Metilmalonilcarnitina (C4-DC) / 3-hidroxiisovalerilcarnitina (C5-OH): |
| fr-CA | French (Canada) | Méthylmalonylcarnitine (C4-DC)/3-hydroxyisovalérylcarnitine (C5-OH): |
| fr-FR | French (France) | Méthylmalonylcarnitine (C4-DC)/3-hydroxyisovalérylcarnitine (C5-OH): |
| fr-BE | French (Belgium) | Méthylmalonylcarnitine (C4-DC)/3-hydroxyisovalérylcarnitine (C5-OH): |
| it-IT | Italian (Italy) | Metilmalonilcarnitina (C4-DC)/3-Idrossiisovalerilcarnitina (C5-OH): Synonyms: Chimica Punto nel tempo (episodio) Rapporto di sostanza Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | methylmalonylcarnitine (C4-DC)/3-hydroxyisovalerylcarnitine (C5-OH): |
| pt-BR | Portuguese (Brazil) | 3-Hidroxisovalerilcarnitina (C5-OH): Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Метилмалонилкарнитин (C4-DC)/3-Гидроксиизовалерилкарнитин (C5-OH): Synonyms: Количественный Кровь Кровь сухая капля Мольная доля; |
| tr-TR | Turkish (Turkey) | Metilmalonilkarnitin (C4-DC)/3-Hidroksiizovalerilkarnitin (C5-OH): Synonyms: SubsOranı |
| zh-CN | Chinese (China) | 甲基丙二酰肉碱 (C4-DC)/3-羟基异戊酰肉碱 (C5-OH): Synonyms: 3-羟基异戊酰肉碱（肉毒碱、 |
Example Units
| Unit | Source |
|---|---|
| {Ratio} | Example UCUM Units |
53183-0 Glutarylcarnitine (C5-DC)+3-Hydroxydecanoylcarnitine (C10-OH) [Moles/volume] in DBS
Part Descriptions
LP66334-1 Glutarylcarnitine (C5-DC)+3-Hydroxydecanoylcarnitine (C10-OH)
Glutarylcarnitine+3-Hydroxydecanoylcarnitine is a primary marker for Glutaric acidemia type I and Glutaric acidemia type II. Secondary marker for Maternal glutaric acidemia type I.
Source: Regenstrief LOINC
Observation Required in Panel
Conditional
Type of Entry
Question expects user entry - requires response [Q]
Fully-Specified Name
- Component
- Glutarylcarnitine (C5-DC)+3-Hydroxydecanoylcarnitine (C10-OH)
- Property
- SCnc
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- Glut+3OHdecanoylcarn DBS-sCnc
- Display Name
- C5-DC+C10-OH (DBS) [Moles/Vol]
- Consumer Name Alpha Get Info
- C5-DC+C10-OH, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.24
- Last Updated
- Version 2.73
- Order vs. Observation
- Both
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 58092-8 | Acylcarnitine newborn screen panel |
| 53262-2 | Carnitine newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Glutarilcarnitina+3-Hidroxidecanoilcarnitina: Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Glutarilcarnitina (C5-DC) + 3-Hidroxidocanoilcarnitina (C10-OH): |
| et-EE | Estonian (Estonia) | Glutarüülkarnitiin (C5-DC) + 3-hüdroksüdekanoüülkarnitiin (C10-OH): Synonyms: Aine kontsentratsioon Juhuslik Kvantitatiivne Veri |
| fr-CA | French (Canada) | Glutarylcarnitine (C5-DC)+ 3-hydroxydécanoylcarnitine (C10-OH): |
| fr-FR | French (France) | Glutarylcarnitine (C5-DC)+3-hydroxydécanoylcarnitine (C10-OH): |
| fr-BE | French (Belgium) | Glutarylcarnitine (C5-DC)+3-Hydroxydecanoylcarnitine (C10-OH): |
| it-IT | Italian (Italy) | Glutarilcarnitina (C5-DC)+3-Idrossidecanoilcarnitina (C10-OH): Synonyms: Chimica Concentrazione di Sostanza Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | glutarylcarnitine (C5-DC) + 3-hydroxydecanoylcarnitine (C10-OH): |
| pt-BR | Portuguese (Brazil) | Glutarilcarnitina (C5-DC)+3-Hidroxidecanoilcarnitina (C10-OH): Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Глутарилкарнитин (C5-DC)+3-Гидроксидканоилкарнитин (C10-OH): Synonyms: Количественный Кровь Кровь сухая капля Молярность; |
| tr-TR | Turkish (Turkey) | Glutarilkarnitin (C5-DC)+3-Hidroksidekanoilkarnitin (C10-OH): |
| zh-CN | Chinese (China) | 戊二酰肉碱 (C5-DC)+3-羟癸酰肉碱 (C10-OH): Synonyms: 3-羟癸酰肉碱（肉毒碱、 |
Example Units
| Unit | Source |
|---|---|
| umol/L | Example UCUM Units |
53403-2 Glutarylcarnitine (C5-DC)+3-Hydroxydecanoylcarnitine (C10-OH)/Butyrylcarnitine+Isobutyrylcarnitine (C4) [Molar ratio] in DBS
Part Descriptions
LP66334-1 Glutarylcarnitine (C5-DC)+3-Hydroxydecanoylcarnitine (C10-OH)
Glutarylcarnitine+3-Hydroxydecanoylcarnitine is a primary marker for Glutaric acidemia type I and Glutaric acidemia type II. Secondary marker for Maternal glutaric acidemia type I.
Source: Regenstrief LOINC
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Glutarylcarnitine (C5-DC)+3-Hydroxydecanoylcarnitine (C10-OH)/Butyrylcarnitine+Isobutyrylcarnitine (C4)
- Property
- SRto
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- Glut+3OHdecanoylcarn/C4 DBS-sRto
- Display Name
- C5-DC+C10-OH/Butyrylcarnitine+Isobutyrylcarnitine (C4) (DBS) [Molar ratio]
- Consumer Name Alpha Get Info
- C5-DC+C10-OH/Butyrylcarnitine+Isobutyrylcarnitine (C4), Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.24
- Last Updated
- Version 2.73
- Order vs. Observation
- Observation
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 58092-8 | Acylcarnitine newborn screen panel |
| 53262-2 | Carnitine newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Glutarilcarnitina+3-Hidroxidecanoilcarnitina/Butirilcarnitina + Isobutirilcarnitina (C4): Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Glutarilcarnitina (C5-DC) + 3-Hidroxidocanoilcarnitina (C10-OH) / Butirilcarnitina + Isobutirilcarnitina (C4): |
| fr-CA | French (Canada) | Glutarylcarnitine (C5-DC)+ 3-hydroxydécanoylcarnitine (C10-OH)/Butyrylcarnitine+Isobutyrylcarnitine (C4): |
| fr-FR | French (France) | Glutarylcarnitine (C5-DC)+3-hydroxydécanoylcarnitine (C10-OH)/butyrylcarnitine+Isobutyrylcarnitine (C4): |
| fr-BE | French (Belgium) | Glutarylcarnitine (C5-DC)+3-Hydroxydecanoylcarnitine (C10-OH)/Butyrylcarnitine+Isobutyrylcarnitine (C4): |
| it-IT | Italian (Italy) | Glutarilcarnitina (C5-DC)+3-Idrossidecanoilcarnitina (C10-OH)/Butirrilcarnitina+Isobutirrilcarnitina (C4): Synonyms: Chimica Punto nel tempo (episodio) Rapporto di sostanza Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | glutarylcarnitine (C5-DC) + 3-hydroxydecanoylcarnitine (C10-OH)/butyrylcarnitine + isobutyrylcarnitine (C4): |
| pt-BR | Portuguese (Brazil) | Glutarilcarnitina (C5-DC)+3-Hidroxidecanoilcarnitina (C10-OH)/Butirilcarnitina+Isobutirilcarnitina (C4): Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Глутарилкарнитин (C5-DC)+3-Гидроксидканоилкарнитин (C10-OH)/Бутирилкарнитин+Изобутирилкарнитин (C4): Synonyms: Количественный Кровь Кровь сухая капля Мольная доля; |
| tr-TR | Turkish (Turkey) | Glutarilkarnitin (C5-DC)+3-Hidroksidekanoilkarnitin (C10-OH)/Bütirilkarnitin+izobütirilkarnitin (C4): Synonyms: SubsOranı |
| zh-CN | Chinese (China) | 戊二酰肉碱 (C5-DC)+3-羟癸酰肉碱 (C10-OH)/丁酰肉碱+异丁酰肉碱 (C4): Synonyms: 3-羟癸酰肉碱（肉毒碱、 |
Example Units
| Unit | Source |
|---|---|
| {Ratio} | Example UCUM Units |
53184-8 Glutarylcarnitine (C5-DC)+3-Hydroxydecanoylcarnitine (C10-OH)/3-Hydroxyisovalerylcarnitine (C5-OH) [Molar ratio] in DBS
Term Description
Glutarylcarnitine+3-Hydroxydecanoylcarnitine/3-Hydroxyisovalerylcarnitine is a primary marker for Glutaric acidemia type I and Glutaric acidemia type II Secondary marker for Maternal glutaric acidemia type I.
Source: Regenstrief LOINC
Part Descriptions
LP66334-1 Glutarylcarnitine (C5-DC)+3-Hydroxydecanoylcarnitine (C10-OH)
Glutarylcarnitine+3-Hydroxydecanoylcarnitine is a primary marker for Glutaric acidemia type I and Glutaric acidemia type II. Secondary marker for Maternal glutaric acidemia type I.
Source: Regenstrief LOINC
LP70356-8 3-Hydroxyisovalerylcarnitine (C5-OH)
3-Hydroxyisovalerylcarnitine is a primary marker for 3-Methylcrotonyl-CoA carboxylase deficiency, Beta-Ketothiolase deficiency, Multiple carboxylase deficiency, 3-Hydroxy-3-methylglutaric aciduria, 2-Methyl-3-hydroxybutyric aciduria, Maternal 3-Methylcrotonyl-CoA carboxylase deficiency, and 2-Methylbutyrylglycinuria.
Source: Regenstrief LOINC
Observation Required in Panel
Conditional
Type of Entry
Question expects user entry - requires response [Q]
Fully-Specified Name
- Component
- Glutarylcarnitine (C5-DC)+3-Hydroxydecanoylcarnitine (C10-OH)/3-Hydroxyisovalerylcarnitine (C5-OH)
- Property
- SRto
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- Glut+3OHdecanoylcarn/C5OH DBS-sRto
- Display Name
- C5-DC+C10-OH/3-Hydroxyisovalerylcarnitine (C5-OH) (DBS) [Molar ratio]
- Consumer Name Alpha Get Info
- C5-DC+C10-OH/3-Hydroxyisovalerylcarnitine (C5-OH), Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.24
- Last Updated
- Version 2.73
- Order vs. Observation
- Both
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 58092-8 | Acylcarnitine newborn screen panel |
| 53262-2 | Carnitine newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Glutarilcarnitina+3-Hidroxidecanoilcarnitina/3-Hidroxiisovalerilcarnitina (C5-OH): Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Glutarilcarnitina (C5-DC) + 3-Hidroxidocanoilcarnitina (C10-OH) / 3-Hidroxiisovalerilcarnitina (C5-OH): |
| fr-CA | French (Canada) | Glutarylcarnitine (C5-DC)+ 3-hydroxydécanoylcarnitine (C10-OH)/3-hydroxyisovalérylcarnitine (C5-OH): |
| fr-FR | French (France) | Glutarylcarnitine (C5-DC)+3-hydroxydécanoylcarnitine (C10-OH)/3-hydroxyisovalérylcarnitine (C5-OH): |
| fr-BE | French (Belgium) | Glutarylcarnitine (C5-DC)+3-Hydroxydecanoylcarnitine (C10-OH)/3-hydroxyisovalérylcarnitine (C5-OH): |
| it-IT | Italian (Italy) | Glutarilcarnitina (C5-DC)+3-Idrossidecanoilcarnitina (C10-OH)/3-Idrossiisovalerilcarnitina (C5-OH): Synonyms: Chimica Punto nel tempo (episodio) Rapporto di sostanza Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | glutarylcarnitine (C5-DC) + 3-hydroxydecanoylcarnitine (C10-OH)/3-hydroxyisovalerylcarnitine (C5-OH): |
| pt-BR | Portuguese (Brazil) | Glutarilcarnitina (C5-DC)+3-Hidroxidecanoilcarnitina (C10-OH)/3-Hidroxisovalerilcarnitina (C5-OH): Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Глутарилкарнитин (C5-DC)+3-Гидроксидканоилкарнитин (C10-OH)/3-Гидроксиизовалерилкарнитин (C5-OH): Synonyms: Количественный Кровь Кровь сухая капля Мольная доля; |
| tr-TR | Turkish (Turkey) | Glutarilkarnitin (C5-DC)+3-Hidroksidekanoilkarnitin (C10-OH)/3-Hidroksiizovalerilkarnitin (C5-OH): Synonyms: SubsOranı |
| zh-CN | Chinese (China) | 戊二酰肉碱 (C5-DC)+3-羟癸酰肉碱 (C10-OH)/3-羟基异戊酰肉碱 (C5-OH): Synonyms: 3-羟基异戊酰肉碱（肉毒碱、 |
Example Units
| Unit | Source |
|---|---|
| {Ratio} | Example UCUM Units |
53185-5 Glutarylcarnitine (C5-DC)+3-Hydroxydecanoylcarnitine (C10-OH)/Octanoylcarnitine (C8) [Molar ratio] in DBS
Term Description
Glutarylcarnitine+3-Hydroxydecanoylcarnitine/Octanoylcarnitine is a primary marker for Very long-chain acyl-CoA dehydrogenase deficiency.
Source: Regenstrief LOINC
Part Descriptions
LP66334-1 Glutarylcarnitine (C5-DC)+3-Hydroxydecanoylcarnitine (C10-OH)
Glutarylcarnitine+3-Hydroxydecanoylcarnitine is a primary marker for Glutaric acidemia type I and Glutaric acidemia type II. Secondary marker for Maternal glutaric acidemia type I.
Source: Regenstrief LOINC
LP70166-1 Octanoylcarnitine (C8)
Octanoylcarnitine is a primary marker for Medium-chain acyl-CoA dehydrogenase deficiency, Glutaric acidemia type II and Medium-chain ketoacyl-CoA thiolase deficiency.
Source: Regenstrief LOINC
Observation Required in Panel
Conditional
Type of Entry
Question expects user entry - requires response [Q]
Fully-Specified Name
- Component
- Glutarylcarnitine (C5-DC)+3-Hydroxydecanoylcarnitine (C10-OH)/Octanoylcarnitine (C8)
- Property
- SRto
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- Glut+3OHdecanoylcarn/C8 DBS-sRto
- Display Name
- C5-DC+C10-OH/Octanoylcarnitine (C8) (DBS) [Molar ratio]
- Consumer Name Alpha Get Info
- C5-DC+C10-OH/Octanoylcarnitine (C8), Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.24
- Last Updated
- Version 2.73
- Order vs. Observation
- Both
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 58092-8 | Acylcarnitine newborn screen panel |
| 53262-2 | Carnitine newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Glutarilcarnitina+3-Hidroxidecanoilcarnitina/Octanoilcarnitina (C8): Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Glutarilcarnitina (C5-DC) + 3-hidroxidocanoilcarnitina (C10-OH) / octanoilcarnitina (C8): |
| fr-CA | French (Canada) | Glutarylcarnitine (C5-DC)+ 3-hydroxydécanoylcarnitine (C10-OH)/Octanoylcarnitine (C8): |
| fr-FR | French (France) | Glutarylcarnitine (C5-DC)+3-hydroxydécanoylcarnitine (C10-OH)/octanoylcarnitine (C8): |
| fr-BE | French (Belgium) | Glutarylcarnitine (C5-DC)+3-Hydroxydecanoylcarnitine (C10-OH)/Octanoylcarnitine (C8): |
| it-IT | Italian (Italy) | Glutarilcarnitina (C5-DC)+3-Idrossidecanoilcarnitina (C10-OH)/Octanoilcarnitina (C8): Synonyms: Chimica Punto nel tempo (episodio) Rapporto di sostanza Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | glutarylcarnitine (C5-DC) + 3-hydroxydecanoylcarnitine (C10-OH)/octanoylcarnitine (C8): |
| pt-BR | Portuguese (Brazil) | Glutarilcarnitina (C5-DC)+3-Hidroxidecanoilcarnitina (C10-OH)/Octanoilcarnitina (C8): Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Глутарилкарнитин (C5-DC)+3-Гидроксидканоилкарнитин (C10-OH)/Октаноилкарнитин (C8): Synonyms: Количественный Кровь Кровь сухая капля Мольная доля; |
| tr-TR | Turkish (Turkey) | Glutarilkarnitin (C5-DC)+3-Hidroksidekanoilkarnitin (C10-OH)/Oktanoilkarnitin (C8): Synonyms: SubsOranı |
| zh-CN | Chinese (China) | 戊二酰肉碱 (C5-DC)+3-羟癸酰肉碱 (C10-OH)/辛酰肉碱 (C8): Synonyms: 3-羟癸酰肉碱（肉毒碱、 |
Example Units
| Unit | Source |
|---|---|
| {Ratio} | Example UCUM Units |
53186-3 Glutarylcarnitine (C5-DC)+3-Hydroxydecanoylcarnitine (C10-OH)/Palmitoylcarnitine (C16) [Molar ratio] in DBS
Term Description
Glutarylcarnitine+3-Hydroxydecanoylcarnitine/Palmitoylcarnitine is a primary marker for Very long-chain acyl-CoA dehydrogenase deficiency. Secondary marker for Long-chain L-3-Hydroxy dehydrogenase deficiency, and Trifunctional protein deficiency.
Source: Regenstrief LOINC
Part Descriptions
LP66334-1 Glutarylcarnitine (C5-DC)+3-Hydroxydecanoylcarnitine (C10-OH)
Glutarylcarnitine+3-Hydroxydecanoylcarnitine is a primary marker for Glutaric acidemia type I and Glutaric acidemia type II. Secondary marker for Maternal glutaric acidemia type I.
Source: Regenstrief LOINC
LP70162-0 Palmitoylcarnitine (C16)
Palmitoylcarnitine is a primary marker for Very long-chain acyl-CoA dehydrogenase deficiency, Long-chain L-3-Hydroxy dehydrogenase deficiency, Trifunctional protein deficiency, Carnitine palmitoyltransferase I deficiency, Carnitine acylcarnitine translocase deficiency, and Carnitine palmitoyltransferase II deficiency. Secondary marker for Carnitine uptake defect.
Source: Regenstrief LOINC
Observation Required in Panel
Conditional
Type of Entry
Question expects user entry - requires response [Q]
Fully-Specified Name
- Component
- Glutarylcarnitine (C5-DC)+3-Hydroxydecanoylcarnitine (C10-OH)/Palmitoylcarnitine (C16)
- Property
- SRto
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- Glut+3OHdecanoylcarn/C16 DBS-sRto
- Display Name
- C5-DC+C10-OH/Palmitoylcarnitine (C16) (DBS) [Molar ratio]
- Consumer Name Alpha Get Info
- C5-DC+C10-OH/Palmitoylcarnitine (C16), Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.24
- Last Updated
- Version 2.73
- Order vs. Observation
- Both
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 58092-8 | Acylcarnitine newborn screen panel |
| 53262-2 | Carnitine newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Glutarilcarnitina+3-Hidroxidecanoilcarnitina/Palmitoilcarnitina (C16): Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Glutarilcarnitina (C5-DC) + 3-Hidroxidocanoilcarnitina (C10-OH) / Palmitoilcarnitina (C16): |
| fr-CA | French (Canada) | Glutarylcarnitine (C5-DC)+ 3-hydroxydécanoylcarnitine (C10-OH)/Palmitoylcarnitine (C16): |
| fr-FR | French (France) | Glutarylcarnitine (C5-DC)+3-hydroxydécanoylcarnitine (C10-OH)/palmitoylcarnitine (C16): |
| fr-BE | French (Belgium) | Glutarylcarnitine (C5-DC)+3-Hydroxydecanoylcarnitine (C10-OH)/Palmitoylcarnitine (C16): |
| it-IT | Italian (Italy) | Glutarilcarnitina (C5-DC)+3-Idrossidecanoilcarnitina (C10-OH)/Palmitoilcarnitina (C16): Synonyms: Chimica Punto nel tempo (episodio) Rapporto di sostanza Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | glutarylcarnitine (C5-DC) + 3-hydroxydecanoylcarnitine (C10-OH)/palmitoylcarnitine (C16): |
| pt-BR | Portuguese (Brazil) | Glutarilcarnitina (C5-DC)+3-Hidroxidecanoilcarnitina (C10-OH)/Palmitoilcarnitina (C16): Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Глутарилкарнитин (C5-DC)+3-Гидроксидканоилкарнитин (C10-OH)/Пальмитоилкарнитин (C16): Synonyms: Количественный Кровь Кровь сухая капля Мольная доля; |
| tr-TR | Turkish (Turkey) | Glutarilkarnitin (C5-DC)+3-Hidroksidekanoilkarnitin (C10-OH)/Palmitoilkarnitin (C16): Synonyms: SubsOranı |
| zh-CN | Chinese (China) | 戊二酰肉碱 (C5-DC)+3-羟癸酰肉碱 (C10-OH)/棕榈酰肉碱 (C16): Synonyms: 3-羟癸酰肉碱（肉毒碱、 |
Example Units
| Unit | Source |
|---|---|
| {Ratio} | Example UCUM Units |
53187-1 Methylglutarylcarnitine (C6-DC) [Moles/volume] in DBS
Part Descriptions
LP69348-8 Methylglutarylcarnitine (C6-DC)
Methylglutarylcarnitine is a primary marker for is a secondary marker for Very long-chain acyl-CoA dehydrogenase deficiency.
Source: Regenstrief LOINC
Observation Required in Panel
Conditional
Type of Entry
Question expects user entry - requires response [Q]
Fully-Specified Name
- Component
- Methylglutarylcarnitine (C6-DC)
- Property
- SCnc
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- MeGlutarylcarn DBS-sCnc
- Display Name
- Methylglutarylcarnitine (C6-DC) (DBS) [Moles/Vol]
- Consumer Name Alpha Get Info
- Methylglutarylcarnitine (C6-DC), Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.24
- Last Updated
- Version 2.73
- Order vs. Observation
- Both
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 58092-8 | Acylcarnitine newborn screen panel |
| 53262-2 | Carnitine newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Metilglutarilcarnitina (C6-DC): Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Metilglutarilcarnitina (C6-DC): |
| et-EE | Estonian (Estonia) | Metüülglutarüülkarnitiin (C6-DC): Synonyms: Aine kontsentratsioon Juhuslik Kvantitatiivne Veri |
| fr-CA | French (Canada) | Méthylglutarylcarnitine (C6-DC): |
| fr-FR | French (France) | Méthylglutarylcarnitine (C6-DC): |
| fr-BE | French (Belgium) | Méthylglutarylcarnitine (C6-DC): |
| it-IT | Italian (Italy) | Metilglutarilcarnitina (C6-DC): Synonyms: Chimica Concentrazione di Sostanza Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | methylglutarylcarnitine (C6-DC): |
| pt-BR | Portuguese (Brazil) | Metilglutarilcarnitina (C6-DC): Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Метилглутарилкарнитин (C6-DC): Synonyms: Количественный Кровь Кровь сухая капля Молярность; |
| tr-TR | Turkish (Turkey) | Metilglutarilkarnitin (C6-DC): |
| zh-CN | Chinese (China) | 甲基戊二酰肉碱 (C6-DC): Synonyms: 克分子浓度; |
Example Units
| Unit | Source |
|---|---|
| umol/L | Example UCUM Units |
53165-7 Formiminoglutamate [Moles/volume] in DBS
Part Descriptions
LP70083-8 Formiminoglutamate
Formiminoglutamic acid (FIGLU) is an intermediate in the metabolism of histidine. The "FIGLU" test is used to identify deficiency of vitamin B12 or folate deficiency or liver disease.
Copyright Text is available under the Creative Commons Attribution/Share-Alike License. See http://creativecommons.org/licenses/by-sa/3.0/ for details.
Source: Wikipedia, Wikipedia
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Formiminoglutamate
- Property
- SCnc
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- Formiminoglutamate DBS-sCnc
- Display Name
- Formiminoglutamate (DBS) [Moles/Vol]
- Consumer Name Alpha Get Info
- Formiminoglutamate, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.24
- Last Updated
- Version 2.70
- Order vs. Observation
- Both
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 58092-8 | Acylcarnitine newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Formiminoglutamato: Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Formiminoglutamato: |
| et-EE | Estonian (Estonia) | Formiminoglutamaat: Synonyms: Aine kontsentratsioon Juhuslik Kvantitatiivne Veri |
| fr-FR | French (France) | Formiminoglutamate: |
| fr-BE | French (Belgium) | Formiminoglutamate: |
| it-IT | Italian (Italy) | Formiminoglutammato: Synonyms: Chimica Concentrazione di Sostanza Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | formiminoglutamaat: |
| pt-BR | Portuguese (Brazil) | Formiminoglutamato: Synonyms: FIGLU; |
| ru-RU | Russian (Russian Federation) | Формиминоглутамат: Synonyms: Количественный Кровь Кровь сухая капля Молярность; |
| tr-TR | Turkish (Turkey) | Formiminoglutamat: |
| zh-CN | Chinese (China) | 亚胺甲基谷氨酸: Synonyms: 亚胺甲基麸氨酸 克分子浓度; |
Example Units
| Unit | Source |
|---|---|
| umol/L | Example UCUM Units |
54078-1 Cystic fibrosis newborn screening panel
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Cystic fibrosis newborn screening panel
- Property
- -
- Time
- Pt
- System
- ^Patient
- Scale
- -
- Method
Additional Names
- Short Name
- NB pnl CF Patient
- Display Name
- Cystic fibrosis NBS panel
- Consumer Name Alpha Get Info
- Cystic Fibrosis NBS Panel
Basic Attributes
- Class
- PANEL.CHEM
- Type
- Laboratory
- First Released
- Version 2.26
- Last Updated
- Version 2.77
- Order vs. Observation
- Order
- Common Test Rank Get Info
- 8535
- Panel Type
- Panel
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Panel de cribado neonatal fibrosis quística: |
| es-MX | Spanish (Mexico) | Panel de cribado neonatal de fibrosis quística: |
| fr-FR | French (France) | Fibrose kystique dépistage néonatal panel: |
| fr-BE | French (Belgium) | Panel screening nouveau-né mucoviscidose: |
| it-IT | Italian (Italy) | Fibrosi cistica, panel screening neonatale: Synonyms: Chimica Panel screening neonatale Panel screening neonatale per fibrosi cistica paziente Punto nel tempo (episodio) Set di prescrizione chimica |
| nl-NL | Dutch (Netherlands) | cystische fibrose pasgeborene screening panel: Synonyms: cystic fibrosis; |
| pt-BR | Portuguese (Brazil) | Recém nascido triagem fibrose cística painel: Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Кистозный фиброз новорождённый скрининг панель: Synonyms: Муковисцидоз Точка во времени; |
| zh-CN | Chinese (China) | 囊性纤维化新生儿筛查组套: Synonyms: Asympt CF; |
46769-6 Cystic fibrosis newborn screen interpretation
Part Descriptions
LP56779-9 Cystic fibrosis
An autosomal recessive genetic disease of the exocrine glands. It is caused by mutations in the gene encoding the cystic fibrosis transmembrane conductance regulator expressed in several organs including the lung, the pancreas, the biliary system, and the sweat glands. Cystic fibrosis is characterized by epithelial secretory dysfunction associated with ductal obstruction resulting in airway obstruction, chronic respiratory infections, pancreatic insufficiency, maldigestion, salt depletion, and heat prostration.
Source: National Library of Medicine, MeSH 2006
Observation Required in Panel
Required
Fully-Specified Name
- Component
- Cystic fibrosis
- Property
- Imp
- Time
- Pt
- System
- Bld.dot
- Scale
- Nom
- Method
Additional Names
- Short Name
- CF DBS-Imp
- Display Name
- Cystic fibrosis (DBS) [Interp]
- Consumer Name Alpha Get Info
- Cystic fibrosis, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.19
- Last Updated
- Version 2.73
- Change Reason
- Changed answer list from "Normative" to "Preferred" to fit the current LOINC model.
- Order vs. Observation
- Observation
- Common Test Rank Get Info
- 3938
Preferred Answer List LL840-0
| Answer | Code | Score | Answer ID |
|---|---|---|---|
| In range | LA18592-8 | ||
| Borderline | LA4259-3 | ||
| Indeterminate Copyright http://snomed.info/sct ID:82334004 Indeterminate (qualifier value) | LA11884-6 | ||
| Out of range | LA18593-6 | ||
| Out of range requiring further dried blood spot testing for at least one condition | LA12430-7 | ||
| Out of range requiring immediate referral | LA25817-0 | ||
| Out of range requiring immediate second-tier testing for at least one condition | LA12431-5 | ||
| Out of range requiring deferred follow-up for at least one condition | LA18594-4 | ||
| One or more tests pending | LA16204-2 | ||
| Specimen unsatisfactory for at least one condition | LA16205-9 |
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 54078-1 | Cystic fibrosis newborn screening panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Fibrosis quística: |
| es-MX | Spanish (Mexico) | Fibrosis quística: |
| fr-CA | French (Canada) | Mucovscidose: |
| fr-FR | French (France) | Fibrose kystique: |
| fr-BE | French (Belgium) | Mucovscidose: |
| it-IT | Italian (Italy) | Fibrosi cistica: Synonyms: Chimica Impressione/interpretazione di studio Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | cystische fibrose: Synonyms: cystic fibrosis; |
| pt-BR | Portuguese (Brazil) | Fibrose cística: Synonyms: Cystic fibr; |
| ru-RU | Russian (Russian Federation) | Кистозный фиброз: Synonyms: Впечатление/интерпретация исследования Кровь Кровь сухая капля Муковисцидоз Номинальный; |
| tr-TR | Turkish (Turkey) | Kistik fibrozis: |
| zh-CN | Chinese (China) | 囊性纤维化: Synonyms: CF; |
Third Party Copyright
This material includes SNOMED Clinical Terms® (SNOMED CT®) which is used by permission of the International Health Terminology Standards Development Organisation (IHTSDO) under license. All rights reserved. SNOMED CT® was originally created by The College of American Pathologists. "SNOMED" and "SNOMED CT" are registered trademarks of the IHTSDO.
This material includes content from the US Edition to SNOMED CT, which is developed and maintained by the U.S. National Library of Medicine and is available to authorized UMLS Metathesaurus Licensees from the UTS Downloads site at https://uts.nlm.nih.gov.
Use of SNOMED CT content is subject to the terms and conditions set forth in the SNOMED CT Affiliate License Agreement. It is the responsibility of those implementing this product to ensure they are appropriately licensed and for more information on the license, including how to register as an Affiliate Licensee, please refer to http://www.snomed.org/snomed-ct/get-snomed-ct or info@snomed.org<mailto:info@snomed.org>. This may incur a fee in SNOMED International non-Member countries.
57707-2 Cystic fibrosis newborn screening comment-discussion
Part Descriptions
LP56779-9 Cystic fibrosis
An autosomal recessive genetic disease of the exocrine glands. It is caused by mutations in the gene encoding the cystic fibrosis transmembrane conductance regulator expressed in several organs including the lung, the pancreas, the biliary system, and the sweat glands. Cystic fibrosis is characterized by epithelial secretory dysfunction associated with ductal obstruction resulting in airway obstruction, chronic respiratory infections, pancreatic insufficiency, maldigestion, salt depletion, and heat prostration.
Source: National Library of Medicine, MeSH 2006
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Cystic fibrosis newborn screening comment-discussion
- Property
- Txt
- Time
- Pt
- System
- Bld.dot
- Scale
- Nar
- Method
Additional Names
- Short Name
- CF NBS comment
- Display Name
- Cystic fibrosis newborn screening comment-discussion Nar (DBS)
- Consumer Name Alpha Get Info
- Cystic fibrosis newborn screening comment-discussion, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.29
- Last Updated
- Version 2.73
- Order vs. Observation
- Observation
- Common Test Rank Get Info
- 16265
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 54078-1 | Cystic fibrosis newborn screening panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Fibrosis quística screnning de recién nacidos comentario-discusión: |
| es-MX | Spanish (Mexico) | Comentario-discusión sobre el cribado neonatal de fibrosis quística: |
| fr-FR | French (France) | Fibrose kystique dépistage néonatal (commentaire-discussion): |
| fr-BE | French (Belgium) | Mucovscidose Commentaires.screening néonatal.discussion: |
| it-IT | Italian (Italy) | Fibrosi cistica, screening neonatale, commenti-discussione: Synonyms: Chimica Commento/discussione di screening neonatale per fibrosi cistica Punto nel tempo (episodio) Sangue Spot sangue secco Testo |
| nl-NL | Dutch (Netherlands) | cystische fibrose screening van pasgeborene commentaar-discussie: Synonyms: cystic fibrosis; |
| pt-BR | Portuguese (Brazil) | Fibrose cística na triagem neonatal comentários-discussão: Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Кистозный фиброз новорожденный скрининг комментарий-дискуссия: Synonyms: Кровь Кровь сухая капля Муковисцидоз Описательный Текст Точка во времени; |
| tr-TR | Turkish (Turkey) | Kistik fibrozis yenidoğan tarama öneri-tartışma: |
| zh-CN | Chinese (China) | 囊性纤维化 新生儿筛查注释-讨论: Synonyms: Asympt CF; |
54083-1 CFTR gene mutations found [Identifier] in DBS by Molecular genetics method Nominal
Part Descriptions
LP19684-7 CFTR gene
The CFTR gene (cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)) [HGNC Gene ID:1884] is located on chromosome 7q31.2. This gene encodes a member of the ATP-binding cassette (ABC) transporter superfamily. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MRP subfamily that is involved in multi-drug resistance. The encoded protein functions as a chloride channel and controls the regulation of other transport pathways. Mutations in this gene are associated with the autosomal recessive disorders cystic fibrosis and congenital bilateral aplasia of the vas deferens. Alternatively spliced transcript variants have been described, many of which result from mutations in this gene. [provided by RefSeq, Jul 2008] [NCBI Gene ID:1080]
Source: National Center for Biotechnology Information (NCBI) Gene
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- CFTR gene targeted mutation analysis
- Property
- Prid
- Time
- Pt
- System
- Bld.dot
- Scale
- Nom
- Method
- Molgen
Additional Names
- Short Name
- CFTR Mut Anl DBS
- Display Name
- CFTR gene targeted mutation analysis Molgen Nom (DBS)
- Consumer Name Alpha Get Info
- CFTR gene targeted mutation analysis, Dried blood spot
Basic Attributes
- Class
- MOLPATH.MUT
- Type
- Laboratory
- First Released
- Version 2.26
- Last Updated
- Version 2.73
- Change Reason
- Based on LOINC Committee review (June 2016), "targeted" was added to the Component to clarify that this test is looking for a specific set of mutations as described in the LOINC User Guide under the Molecular Genetics section.
- Order vs. Observation
- Both
- Common Test Rank Get Info
- 17117
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 54078-1 | Cystic fibrosis newborn screening panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Gen CFTR Analisis de mutaciones: |
| es-MX | Spanish (Mexico) | Análisis de mutaciones dirigidas al gen CFTR: |
| fr-FR | French (France) | CFTR gène mutation cible trouvée: |
| it-IT | Italian (Italy) | CFTR, gene analisi di mutazione mirata: Synonyms: Gene CFTR Genetica molecolare Mutazione genica Patologia molecolare Presenza o Identità Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | CFTR-gen doelgerichte mutatie-analyse: Synonyms: CFTR gen molgen targeted |
| pt-BR | Portuguese (Brazil) | CFTR análise de mutação do gene: Synonyms: Cystic fibrosis transmembrane conductance regulator; |
| ru-RU | Russian (Russian Federation) | CFTR ген исследование на мутацию: Synonyms: Кровь Кровь сухая капля Номинальный; |
| tr-TR | Turkish (Turkey) | CFTR geni Mutasyon analizi: |
| zh-CN | Chinese (China) | CFTR 基因 突变分析: Synonyms: ABC35; |
2077-6 Chloride [Moles/volume] in Sweat
Term Description
Extended monitoring of sweat composition allows for athlete and patient health, welfare and performance to be examined. With this information, corrective modifications to fluid and dietary intake can be made. Sweat contains many ions, including sodium, potassium, calcium, magnesium, and chloride among others. Sweat composition analysis also detects chemical changes indicative of cystic fibrosis, infections and other imbalances. PMID: 28336151
Source: Regenstrief LOINC
Part Descriptions
LP15483-8 Chloride
The chloride ion is formed when the element chlorine picks up one electron to form an anion negatively-charged ion Cl−. The salts of hydrochloric acid contain chloride ions and can also be called chlorides.
Copyright Text is available under the Creative Commons Attribution/Share-Alike License. See http://creativecommons.org/licenses/by-sa/3.0/ for details.
Source: Wikipedia, Chloride
LP15483-8 Chloride
Chloride is an essential mineral required by humans that is found mainly in body fluids. It is an important, negatively charged ion in the blood, and a major electrolyte that helps to conduct electrical impulses. Electrolytes including chloride are located in the blood, lymph, and intra- and extra-cellular fluid. Chloride helps to regulate osmolarity by offsetting the positively charged sodium and potassium ions in the serum. It combines with hydrogen to form hydrochloric acid in the digestive tract which breaks down proteins, absorbs metallic minerals, and activates intrinsic factor. Chloride is absorbed both actively and passively in order to help maintain extracellular fluid volume. There is a continuous exchange of chloride and bicarbonate that occurs between the red blood cells and the plasma that controls the pH and excretion of carbon dioxide, a waste product of respiration.[https://traceminerals.com/chloride-the-forgotten-essential-mineral/]
Source: Regenstrief LOINC
Reference Information
| Type | Source | Reference |
|---|---|---|
| Webcontent | Lab Tests Online®Copyright Copyright © 2021 Lab Tests Online. All rights reserved. | Sweat Chloride Test |
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Chloride
- Property
- SCnc
- Time
- Pt
- System
- Sweat
- Scale
- Qn
- Method
Additional Names
- Short Name
- Chloride Sweat-sCnc
- Display Name
- Chloride (Sweat) [Moles/Vol]
- Consumer Name Alpha Get Info
- Chloride, Sweat
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 1.0
- Last Updated
- Version 2.73
- Order vs. Observation
- Both
- Common Test Rank Get Info
- 2927
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 74993-7 | Chloride and sodium panel [Moles/volume] - Sweat |
| 54078-1 | Cystic fibrosis newborn screening panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| de-DE | German (Germany) | Chlorid: |
| de-AT | German (Austria) | Synonyms: Chlorid /SW |
| es-ES | Spanish (Spain) | Cloro: Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Cloruro: |
| es-AR | Spanish (Argentina) | cloruro: |
| et-EE | Estonian (Estonia) | Kloriid: Synonyms: Aine kontsentratsioon Higi Juhuslik Kvantitatiivne |
| fr-CA | French (Canada) | Chlorure: |
| fr-FR | French (France) | Chlore: |
| fr-BE | French (Belgium) | Chlorure: Synonyms: Cl- |
| it-IT | Italian (Italy) | Cloruro: Synonyms: Chimica Concentrazione di Sostanza Punto nel tempo (episodio) |
| ko-KR | Korean (Korea, Republic Of) | 염화물: |
| nl-NL | Dutch (Netherlands) | chloride: |
| pl-PL | Polish (Poland) | Chlorek: |
| pt-BR | Portuguese (Brazil) | Cloreto: Synonyms: Cl-; |
| ru-RU | Russian (Russian Federation) | Хлорид: Synonyms: Количественный Молярность; |
| tr-TR | Turkish (Turkey) | Klorür: |
| zh-CN | Chinese (China) | 氯: Synonyms: Cl; |
Example Units
| Unit | Source |
|---|---|
| mmol/L | Example UCUM Units |
| mmol/L | REGENSTRIEF |
48633-2 Trypsinogen I Free [Mass/volume] in DBS
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Trypsinogen I.free
- Property
- MCnc
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- Trypsinogen I Free DBS-mCnc
- Display Name
- Trypsinogen I Free (DBS) [Mass/Vol]
- Consumer Name Alpha Get Info
- Free Trypsinogen I, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.21
- Last Updated
- Version 2.73
- Order vs. Observation
- Both
- Common Test Rank Get Info
- 1406
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 54078-1 | Cystic fibrosis newborn screening panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Tripsinógeno I libre: Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Tripsinógeno I libre: |
| et-EE | Estonian (Estonia) | Trüpsinogeen I.vaba: Synonyms: Juhuslik Kvantitatiivne Veri |
| fr-CA | French (Canada) | Trypsinogène I.libre: |
| fr-FR | French (France) | Trypsinogène I libre: |
| fr-BE | French (Belgium) | Trypsinogène I.libre: |
| it-IT | Italian (Italy) | Tripsinogeno I.libero: Synonyms: Chimica Concentrazione di Massa Punto nel tempo (episodio) Sangue Spot sangue secco Tripsinogeno I Libero |
| nl-NL | Dutch (Netherlands) | trypsinogeen I.vrij: |
| pt-BR | Portuguese (Brazil) | Tripsinogênio I.livre: Synonyms: Mass concentration; |
| ru-RU | Russian (Russian Federation) | Трипсиноген I.свободный: Synonyms: Количественный Кровь Кровь сухая капля Массовая концентрация Точка во времени; |
| tr-TR | Turkish (Turkey) | Tripsinojen I.serb: |
| zh-CN | Chinese (China) | 胰蛋白酶原 I.游离型: Synonyms: I 型 IRT 免疫反应性胰朊酶 免疫反应性胰蛋白酶 免疫反应性胰蛋白酶（Immunoreactive trypsin， |
Example Units
| Unit | Source |
|---|---|
| ug/L | Example UCUM Units |
54076-5 Endocrine newborn screening panel
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Endocrine newborn screening panel
- Property
- -
- Time
- Pt
- System
- Bld.dot
- Scale
- -
- Method
Additional Names
- Short Name
- NB pnl Endocrine DBS
- Display Name
- Endocrine NBS panel (DBS)
- Consumer Name Alpha Get Info
- Endocrine NBS Panel, Dried blood spot
Basic Attributes
- Class
- PANEL.CHEM
- Type
- Laboratory
- First Released
- Version 2.26
- Last Updated
- Version 2.77
- Order vs. Observation
- Order
- Panel Type
- Panel
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Panel endocrino de cribado neonatal: |
| es-MX | Spanish (Mexico) | Panel de cribado endocrino neonatal: |
| fr-FR | French (France) | Dépistage néonatal endocrinien panel: |
| it-IT | Italian (Italy) | Screening panel endocrino neonatale: Synonyms: Chimica Panel screening neonatale Punto nel tempo (episodio) Sangue Set di prescrizione chimica Spot sangue secco |
| nl-NL | Dutch (Netherlands) | endocriene pasgeborene screening panel: |
| pt-BR | Portuguese (Brazil) | Recém nascido triagem endócrino painel: Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Эндокринный новорождённый скрининг панель: Synonyms: Кровь Кровь сухая капля Точка во времени; |
| zh-CN | Chinese (China) | 内分泌新生儿筛查组套: Synonyms: Asympt SCN 全血斑点(滤纸); |
57086-1 Congenital adrenal hyperplasia newborn screening panel
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Congenital adrenal hyperplasia newborn screening panel
- Property
- -
- Time
- Pt
- System
- Bld.dot
- Scale
- -
- Method
Additional Names
- Short Name
- CAH NB scn pnl DBS
- Display Name
- Congenital adrenal hyperplasia NBS panel (DBS)
- Consumer Name Alpha Get Info
- Congenital Adrenal Hyperplasia NBS Panel, Dried blood spot
Basic Attributes
- Class
- PANEL.CHEM
- Type
- Laboratory
- First Released
- Version 2.29
- Last Updated
- Version 2.77
- Order vs. Observation
- Order
- Panel Type
- Panel
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 54076-5 | Endocrine newborn screening panel |
| 54075-7 | Endocrine newborn screening panel (SI units) |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Panel de cribado neonatal de la hiperplasia adrenal congénita: |
| es-MX | Spanish (Mexico) | Panel de cribado neonatal de hiperplasia suprarrenal congénita: |
| fr-FR | French (France) | Hyperplasie congénitale des surrénales dépistage néonatal panel: |
| it-IT | Italian (Italy) | Iperplasia surrenale congenita, panel screening neonatale: Synonyms: Chimica Panel screening neonatale Panel screening neonatale per iperplasia surrenale Punto nel tempo (episodio) Sangue Set di prescrizione chimica Spot sangue secco Surrene |
| nl-NL | Dutch (Netherlands) | congenitale bijnierhyperplasie pasgeborene screening panel: |
| pt-BR | Portuguese (Brazil) | Hiperplasia adrenal congênita painel de triagem neonatal: Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Врождённая надпочечник гиперплазия новорождённый скрининг панель: Synonyms: Врождённая гиперплазия надпочечников Кровь Кровь сухая капля Точка во времени; |
| zh-CN | Chinese (China) | 先天性肾上腺皮质增生新生儿筛查组套: Synonyms: Asympt CAH; |
46758-9 Congenital adrenal hyperplasia newborn screen interpretation
Observation Required in Panel
Required
Fully-Specified Name
- Component
- Congenital adrenal hyperplasia
- Property
- Imp
- Time
- Pt
- System
- Bld.dot
- Scale
- Nom
- Method
Additional Names
- Short Name
- CAH DBS-Imp
- Display Name
- Congenital adrenal hyperplasia (DBS) [Interp]
- Consumer Name Alpha Get Info
- Congenital adrenal hyperplasia, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.19
- Last Updated
- Version 2.73
- Change Reason
- Changed answer list from "Normative" to "Preferred" to fit the current LOINC model.
- Order vs. Observation
- Observation
- Common Test Rank Get Info
- 12993
Preferred Answer List LL840-0
| Answer | Code | Score | Answer ID |
|---|---|---|---|
| In range | LA18592-8 | ||
| Borderline | LA4259-3 | ||
| Indeterminate Copyright http://snomed.info/sct ID:82334004 Indeterminate (qualifier value) | LA11884-6 | ||
| Out of range | LA18593-6 | ||
| Out of range requiring further dried blood spot testing for at least one condition | LA12430-7 | ||
| Out of range requiring immediate referral | LA25817-0 | ||
| Out of range requiring immediate second-tier testing for at least one condition | LA12431-5 | ||
| Out of range requiring deferred follow-up for at least one condition | LA18594-4 | ||
| One or more tests pending | LA16204-2 | ||
| Specimen unsatisfactory for at least one condition | LA16205-9 |
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 54076-5 | Endocrine newborn screening panel |
| 54075-7 | Endocrine newborn screening panel (SI units) |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Hiperplasia adrenal congenita: |
| es-MX | Spanish (Mexico) | Hiperplasia suprarrenal congénita: |
| fr-CA | French (Canada) | Hyperplasie congénitale de la surrénale: |
| fr-FR | French (France) | Hyperplasie congénitale des surrénales: |
| fr-BE | French (Belgium) | Hyperplasie congénitale de la surrénale: Synonyms: Surrénale |
| it-IT | Italian (Italy) | Iperplasia surrenale congenita: Synonyms: Chimica Impressione/interpretazione di studio Punto nel tempo (episodio) Sangue Spot sangue secco Surrene |
| nl-NL | Dutch (Netherlands) | congenitale bijnierhyperplasie: |
| pt-BR | Portuguese (Brazil) | Hiperplasia adrenal congênita: Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Врождённая надпочечников гиперплазия: Synonyms: Впечатление/интерпретация исследования Врождённая гиперплазия надпочечников Кровь Кровь сухая капля Номинальный; |
| tr-TR | Turkish (Turkey) | Konjenital adrenal hiperplazi: |
| zh-CN | Chinese (China) | 先天性肾上腺皮质增生症: Synonyms: CAH; |
Third Party Copyright
This material includes SNOMED Clinical Terms® (SNOMED CT®) which is used by permission of the International Health Terminology Standards Development Organisation (IHTSDO) under license. All rights reserved. SNOMED CT® was originally created by The College of American Pathologists. "SNOMED" and "SNOMED CT" are registered trademarks of the IHTSDO.
This material includes content from the US Edition to SNOMED CT, which is developed and maintained by the U.S. National Library of Medicine and is available to authorized UMLS Metathesaurus Licensees from the UTS Downloads site at https://uts.nlm.nih.gov.
Use of SNOMED CT content is subject to the terms and conditions set forth in the SNOMED CT Affiliate License Agreement. It is the responsibility of those implementing this product to ensure they are appropriately licensed and for more information on the license, including how to register as an Affiliate Licensee, please refer to http://www.snomed.org/snomed-ct/get-snomed-ct or info@snomed.org<mailto:info@snomed.org>. This may incur a fee in SNOMED International non-Member countries.
57706-4 Congenital adrenal hyperplasia newborn screening comment-discussion
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Congenital adrenal hyperplasia newborn screening comment-discussion
- Property
- Txt
- Time
- Pt
- System
- Bld.dot
- Scale
- Nar
- Method
Additional Names
- Short Name
- CAH NBS comment
- Display Name
- Congenital adrenal hyperplasia newborn screening comment-discussion Nar (DBS)
- Consumer Name Alpha Get Info
- Congenital adrenal hyperplasia newborn screening comment-discussion, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.29
- Last Updated
- Version 2.73
- Order vs. Observation
- Observation
- Common Test Rank Get Info
- 17585
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 54076-5 | Endocrine newborn screening panel |
| 54075-7 | Endocrine newborn screening panel (SI units) |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Hiperplasia adrenal congenita screnning de recién nacidos comentario-discusión: |
| es-MX | Spanish (Mexico) | Cribado neonatal de hiperplasia suprarrenal congénita comentario-discusión: |
| fr-FR | French (France) | Hyperplasie congénitale des surrénales dépistage néonatal (commentaire-discussion): |
| fr-BE | French (Belgium) | Hyperplasie congénitale de la surrénale Commentaires.screening néonatal.discussion: Synonyms: Surrénale |
| it-IT | Italian (Italy) | Iperplasia surrenale congenita, screening neonatale, commenti-discussione: Synonyms: Chimica Commento/discussione di screening neonatale per iperplasia surrenale congenita Punto nel tempo (episodio) Sangue Spot sangue secco Surrene Testo |
| nl-NL | Dutch (Netherlands) | congenitale bijnierhyperplasie screening van pasgeborene commentaar-discussie: |
| pt-BR | Portuguese (Brazil) | Hiperplasia adrenal congênita na triagem neonatal comentários-discussão: Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Врождённая надпочечников гиперплазия новорожденный скрининг комментарий-дискуссия: Synonyms: Врождённая гиперплазия надпочечников Кровь Кровь сухая капля Описательный Текст Точка во времени; |
| tr-TR | Turkish (Turkey) | Konjenital adrenal hiperplazi yenidoğan tarama öneri-tartışma: |
| zh-CN | Chinese (China) | 先天性肾上腺皮质增生症 新生儿筛查注释-讨论: Synonyms: Asympt CAH; |
53347-1 11-Deoxycorticosterone [Mass/volume] in DBS
Part Descriptions
LP15283-2 11-Deoxycorticosterone
Deoxycorticosterone is a steroid hormone produced by the adrenal gland that possess mineralocorticoid activity and acts as a precursor to aldosterone.
Copyright Text is available under the Creative Commons Attribution/Share-Alike License. See http://creativecommons.org/licenses/by-sa/3.0/ for details.
Source: Wikipedia, 11-deoxycorticosterone (Wikipedia)
LP15283-2 11-Deoxycorticosterone
Deoxycorticosterone (DOC) is a precursor of corticosterone and aldosterone. The elevations of DOC observed in patients with 11-hydroxylase deficiency (the second leading cause of congenital adrenal hyperplasia) may reflect the hypertension observed. Patients with DOC-secreting tumors also exhibit hypertension.
Source: Regenstrief Institute
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- 11-Deoxycorticosterone
- Property
- MCnc
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- 11DOC DBS-mCnc
- Display Name
- 11-Deoxycorticosterone (DBS) [Mass/Vol]
- Consumer Name Alpha Get Info
- 11-Deoxycorticosterone, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.24
- Last Updated
- Version 2.73
- Order vs. Observation
- Both
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 54076-5 | Endocrine newborn screening panel |
| 54075-7 | Endocrine newborn screening panel (SI units) |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Member of these Groups Get Info
| LOINC Group | Group Name |
|---|---|
| LG41875-2 | 11-Deoxycorticosterone| |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | 11-Desoxicorticosterona: Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | 11-desoxicorticosterona: |
| et-EE | Estonian (Estonia) | 11-deoksükortikosteroon: Synonyms: Juhuslik Kvantitatiivne Veri |
| fr-CA | French (Canada) | 11-désoxycorticostérone: |
| fr-FR | French (France) | 11-déoxycorticostérone: |
| fr-BE | French (Belgium) | 11-désoxycorticostérone: |
| it-IT | Italian (Italy) | 11-Deossicorticosterone: Synonyms: Chimica Concentrazione di Massa Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | 11-deoxycorticosteron: |
| pt-BR | Portuguese (Brazil) | 11-Deoxicorticosterona: Synonyms: ; |
| ru-RU | Russian (Russian Federation) | 1-Деоксикортикостерон: Synonyms: 1-Дезоксикортикостерон Количественный Кровь Кровь сухая капля Массовая концентрация Точка во времени; |
| tr-TR | Turkish (Turkey) | 11-Deoksikortikosteron: |
| zh-CN | Chinese (China) | 11-脱氧皮质酮: Synonyms: 11DOC; |
Example Units
| Unit | Source |
|---|---|
| ng/dL | Example UCUM Units |
53338-0 11-Deoxycortisol [Mass/volume] in DBS
Part Descriptions
LP15252-7 11-Deoxycortisol
11-Deoxycortisol, also known as cortexolone or cortodoxone. is an immediate precursor of cortisol and belongs to the class of organic compounds known as 21-hydroxysteroids. 11-Deoxycortisol is a potentially toxic compound. Accumulation of Cortexolone can happen in a defect known as congenital adrenal hyperplasia, which is due to 11-beta-hydroxylase deficiency, resulting in androgen excess, virilization, and hypertension. PMID: 2022736
Source: Regenstrief LOINC, 11-deoxycortisol
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- 11-Deoxycortisol
- Property
- MCnc
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- 11DC DBS-mCnc
- Display Name
- 11-Deoxycortisol (DBS) [Mass/Vol]
- Consumer Name Alpha Get Info
- 11-Deoxycortisol, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.24
- Last Updated
- Version 2.73
- Order vs. Observation
- Both
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 54076-5 | Endocrine newborn screening panel |
| 54075-7 | Endocrine newborn screening panel (SI units) |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Member of these Groups Get Info
| LOINC Group | Group Name |
|---|---|
| LG41877-8 | 11-Deoxycortisol| |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | 11-Deoxicortisol: Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | 11-desoxicortisol: |
| et-EE | Estonian (Estonia) | 11-deoksükortisool: Synonyms: Juhuslik Kvantitatiivne Veri |
| fr-CA | French (Canada) | 11-désoxycortisol: |
| fr-FR | French (France) | 11-déoxycortisol: |
| fr-BE | French (Belgium) | 11-déoxycortisol: |
| it-IT | Italian (Italy) | 11-Deossicortisolo: Synonyms: Chimica Concentrazione di Massa Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | 11-deoxycortisol: |
| pt-BR | Portuguese (Brazil) | 11-Deoxicortisol: Synonyms: ; |
| ru-RU | Russian (Russian Federation) | 11-Деоксикортизол: Synonyms: 11-Дезоксикортизол Количественный Кровь Кровь сухая капля Массовая концентрация Точка во времени; |
| tr-TR | Turkish (Turkey) | 11-Deoksikortizol: |
| zh-CN | Chinese (China) | 11-脱氧皮质醇: Synonyms: 11DC; |
Example Units
| Unit | Source |
|---|---|
| ug/dL | Example UCUM Units |
38473-5 17-Hydroxyprogesterone [Mass/volume] in DBS
Part Descriptions
LP14974-7 17-Hydroxyprogesterone
17-hydroxyprogesterone (17-OHP) is a steroid that is a member of the adrenal biosynthetic pathway and measured in order to diagnose congenital adrenal hyperplasia (CAH). Classic CAH is suspected when virilisation is seen in females at birth. The diagnosis of CAH in boys can be delayed. CAH is characterized by decreased cortisol as a result of a mutation in the CYP21A2 gene, which encodes the enzyme 21-hydroxylase. Increased blood concentrations of 17-OHP indicate a deficiency in 21-hydroxylase since 17-OHP is the substrate for 21-hydroxylase. Reduced levels of 21-hydroxylase negatively affect the production of cortisol. CAH is among the most frequent genetic disorders in humans. The severity of the physical manifestations are related to the degree of 21-hydroxylase deficiency. PMID: 24711560
Source: Regenstrief LOINC
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- 17-Hydroxyprogesterone
- Property
- MCnc
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- 17OHP DBS-mCnc
- Display Name
- 17-Hydroxyprogesterone (DBS) [Mass/Vol]
- Consumer Name Alpha Get Info
- 17-Hydroxyprogesterone, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.14
- Last Updated
- Version 2.73
- Order vs. Observation
- Both
- Common Test Rank Get Info
- 17486
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 54076-5 | Endocrine newborn screening panel |
| 54075-7 | Endocrine newborn screening panel (SI units) |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Member of these Groups Get Info
| LOINC Group | Group Name |
|---|---|
| LG50877-6 | 17-Hydroxyprogesterone| |
| LG42190-5 | 17-Hydroxyprogesterone| |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| de-DE | German (Germany) | 17-Hydroxyprogesteron: Synonyms: 17-OH-Progesteron; |
| es-ES | Spanish (Spain) | 17-hidroxiprogesterona: Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | 17-hidroxiprogesterona: |
| es-AR | Spanish (Argentina) | 17-hidroxiprogesterona: |
| et-EE | Estonian (Estonia) | 17-alfahüdroksüprogesteroon: Synonyms: Juhuslik Kvantitatiivne Veri |
| fr-CA | French (Canada) | 17-hydroxyprogestérone: |
| fr-FR | French (France) | 17-hydroxyprogestérone: |
| fr-BE | French (Belgium) | 17-hydroxyprogestérone: |
| it-IT | Italian (Italy) | 17-Idrossiprogesterone: Synonyms: Chimica Concentrazione di Massa Punto nel tempo (episodio) Sangue Spot sangue secco |
| ko-KR | Korean (Korea, Republic Of) | 17-하이드록시프로게스테론: |
| nl-NL | Dutch (Netherlands) | 17-hydroxyprogesteron: |
| pt-BR | Portuguese (Brazil) | 17-hidroxiprogesterona: Synonyms: ; |
| ru-RU | Russian (Russian Federation) | 17-гидроксипрогестерон: Synonyms: Количественный Кровь Кровь сухая капля Массовая концентрация Точка во времени; |
| tr-TR | Turkish (Turkey) | 17-Hidroksiprogesteron: |
| uk-UA | Ukrainian (Ukraine) | 17-Гідроксипрогестерон: Synonyms: 17-alpha-hydroxyprogesterone; |
| zh-CN | Chinese (China) | 17-羟孕酮: Synonyms: 17-Alpha-OH 黄体酮; |
Example Units
| Unit | Source |
|---|---|
| ng/mL | Example UCUM Units |
| ng/mL | REGENSTRIEF |
53336-4 17-Hydroxyprogesterone+Androstenedione/Cortisol [Mass Ratio] in DBS
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- 17-Hydroxyprogesterone+Androstenedione/Cortisol
- Property
- MRto
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- 17OHCS+Androst/Cortis DBS
- Display Name
- 17-Hydroxyprogesterone+Androstenedione/Cortisol (DBS) [Mass ratio]
- Consumer Name Alpha Get Info
- 17-Hydroxyprogesterone+Androstenedione/Cortisol, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.24
- Last Updated
- Version 2.73
- Order vs. Observation
- Both
- Common Test Rank Get Info
- 16126
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 54076-5 | Endocrine newborn screening panel |
| 54075-7 | Endocrine newborn screening panel (SI units) |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | 17-Hidroxiprogesterona+Androstendiona/Cortisol: Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | 17-hidroxiprogesterona + androstenediona / cortisol: |
| et-EE | Estonian (Estonia) | 17-hüdroksüprogesteroon + androsteendioon/kortisool: Synonyms: Juhuslik Kvantitatiivne Veri |
| fr-CA | French (Canada) | 17-hydroxyprogestérone+Androstènedione/Cortisol: |
| fr-FR | French (France) | 17-hydroxyprogestérone+androstènedione/cortisol: |
| fr-BE | French (Belgium) | 17-hydroxyprogestérone+Androstènedione/Cortisol: Synonyms: Rapport de masse |
| it-IT | Italian (Italy) | 17-Idrossiprogesterone+Androstenedione/Cortisolo: Synonyms: Chimica Punto nel tempo (episodio) Rapporto di Massa Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | 17-hydroxyprogesteron + androsteendion/cortisol: |
| pt-BR | Portuguese (Brazil) | 17-hidroxiprogesterona+Androstenediona/Cortisol: Synonyms: ; |
| ru-RU | Russian (Russian Federation) | 17-Гидроксипрогестерон+Андростендион/Кортизол: Synonyms: Количественный Кровь Кровь сухая капля Масс отношение Точка во времени; |
| tr-TR | Turkish (Turkey) | 17-Hidroksiprogesteron+Androstenedion/Kortizol: |
| zh-CN | Chinese (China) | 17-羟孕酮+雄烯二酮/皮质醇: Synonyms: 17-Alpha-OH 黄体酮; |
Example Units
| Unit | Source |
|---|---|
| {ratio} | Example UCUM Units |
53341-4 21-Deoxycortisol [Mass/volume] in DBS
Part Descriptions
LP65144-5 21-Deoxycortisol
Plasma 21-deoxycortisol (21DF) is an excellent marker of 21-hydroxylase deficiency. Currently, it is the only marker able to detect heterozygous carriers with 21-hydroxylase deficiency after Adrenocorticotropic Hormone (ACTH) stimulation. The syndrome of congenital adrenal hyperplasia (CAH) comprises the spectrum of autosomal recessive enzymatic disorders that impair cortisol biosynthesis. The hormonal pattern and clinical manifestations result from hyperstimulation of the adrenal cortex by excessive production of ACTH, untied from the negative feedback exerted by reduced cortisol levels, and the ultimate accumulation of F precursors and androgens. These abnormalities predispose the female newborn to ambiguous genitalia (female pseudohermaphroditism) and precocious puberty that may occur in both sexes. CAH due to 21-hydroxylase deficiency (21OHD) comprises nearly 90% of all cases, with an estimated worldwide incidence of 1 in 14,000 live births. Because 21-deoxycortisol (21DF) is an 11b-hydroxylase (11bOH) derivative of 17-hydroxyprogesterone (17OHP), its serum levels are parallel and proportionally elevated in patients with 21OHD but decreased or undetectable in those with 11b-hydroxylase deficiency (11bOHD). Due to the marked buildup of 17OHP in 21OHD, this precursor steroid can proceed directly to 11-hydroxylation, producing distinct elevations of 21DF. PMID: 16551734, PMID: 10731638
Copyright Copyright ©2005-2009 Genome Alberta (Reference to original publication: Wishart DS, Knox C, Guo AC, et al. HMDB: a knowledgebase for the human metabolome. Nucleic Acids Res. 2009 37(Database issue):D603-610.)
Source: Human Metabolome Database, 21-Deoxycortisol
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- 21-Deoxycortisol
- Property
- MCnc
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- 21DC DBS-mCnc
- Display Name
- 21-Deoxycortisol (DBS) [Mass/Vol]
- Consumer Name Alpha Get Info
- 21-Deoxycortisol, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.24
- Last Updated
- Version 2.73
- Order vs. Observation
- Both
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 54076-5 | Endocrine newborn screening panel |
| 54075-7 | Endocrine newborn screening panel (SI units) |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Member of these Groups Get Info
| LOINC Group | Group Name |
|---|---|
| LG43267-0 | 21-Deoxycortisol| |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | 21-Deoxicortisol: Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | 21-desoxicortisol: |
| et-EE | Estonian (Estonia) | 21-deoksükortisool: Synonyms: Juhuslik Kvantitatiivne Veri |
| fr-CA | French (Canada) | 21-désoxycortisol: |
| fr-FR | French (France) | 21-déoxycortisol: |
| fr-BE | French (Belgium) | 21-déoxycortisol: |
| it-IT | Italian (Italy) | 21-Deossicortisolo: Synonyms: Chimica Concentrazione di Massa Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | 21-deoxycortisol: |
| pt-BR | Portuguese (Brazil) | 21-Deoxicortisol: Synonyms: ; |
| ru-RU | Russian (Russian Federation) | 21-Дезоксикортизол: Synonyms: Количественный Кровь Кровь сухая капля Массовая концентрация Точка во времени; |
| tr-TR | Turkish (Turkey) | 21-Deoksikortizol: |
| zh-CN | Chinese (China) | 21-脱氧皮质醇: Synonyms: 21DC; |
Example Units
| Unit | Source |
|---|---|
| ug/dL | Example UCUM Units |
53343-0 Androstenedione [Mass/volume] in DBS
Part Descriptions
LP14493-8 Androstenedione
Androstenedione (also known as 4-androstenedione) is a 19-carbon steroid hormone produced in the adrenal glands and the gonads as an intermediate step in the biochemical pathway that produces the androgen testosterone and the estrogens estrone and estradiol. It is the common precursor of male and female sex hormones. Some androstenedione is also secreted into the plasma, and may be converted in peripheral tissues to testosterone and estrogens. Androstenedione originates either from the conversion of dehydroepiandrosterone or from 17-hydroxyprogesterone. It is further converted to either testosterone or estrone. The production of adrenal androstenedione is governed by ACTH, while production of gonadal androstenedione is controled by gonadotropins. In premenopausal women the adrenal glands and ovaries each produce about half of the total androstendione (about 3 mgday).
Copyright Text is available under the Creative Commons Attribution/Share-Alike License. See http://creativecommons.org/licenses/by-sa/3.0/ for details.
Source: Wikipedia, Androstenedione (Wikipedia)
LP14493-8 Androstenedione
Testing for androstenedione is used to diagnose viralizing syndromes including congenital adrenal hyperplasia, female virilization, hirsutism, polycystic ovarian disease, Stein-Levethal syndrome. and to detect abuse of anabolic steroids. It is also a drug- an anabolic steroid- used to enhance atheletic performance, but banned as an OTC drug by the FDA in 2004.
Source: Regenstrief Institute
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Androstenedione
- Property
- MCnc
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- Androst DBS-mCnc
- Display Name
- Androstenedione (DBS) [Mass/Vol]
- Consumer Name Alpha Get Info
- Androstenedione, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.24
- Last Updated
- Version 2.73
- Order vs. Observation
- Both
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 54076-5 | Endocrine newborn screening panel |
| 54075-7 | Endocrine newborn screening panel (SI units) |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Member of these Groups Get Info
| LOINC Group | Group Name |
|---|---|
| LG42767-0 | Androstenedione| |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Androstenediona: Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Androstenediona: |
| et-EE | Estonian (Estonia) | Androsteendioon: Synonyms: Juhuslik Kvantitatiivne Veri |
| fr-CA | French (Canada) | Androstènedione: |
| fr-FR | French (France) | Androstènedione: |
| fr-BE | French (Belgium) | Androstènedione: |
| it-IT | Italian (Italy) | Androstenedione: Synonyms: Chimica Concentrazione di Massa Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | androsteendion: |
| pt-BR | Portuguese (Brazil) | Androstenediona: Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Андростендион: Synonyms: Количественный Кровь Кровь сухая капля Массовая концентрация Точка во времени; |
| tr-TR | Turkish (Turkey) | Androstenediyon: |
| zh-CN | Chinese (China) | 雄烯二酮: Synonyms: Androst; |
Example Units
| Unit | Source |
|---|---|
| ng/dL | Example UCUM Units |
53345-5 Cortisol [Mass/volume] in DBS
Part Descriptions
LP14161-1 Cortisol
Cortisol is a glucocorticoid produced in the adrenal cortex. A synthetic version of this same chemical is called hydrocortisone and manufactured as medication. Cortisol is not to be confused with cortisone, a closely related compound with much less (PubChem calls it "inactive") biologic activity. Cortisone is also offered as a drug, and it is converted to cortisol (the active form) in the liver. They both have a circadian rhythm with peak in the AM (around 8AM) and trough in the evening (around midnight), but this shifts according to sleep habits (work shifts). The morning measurement, which should be high, is most useful for diagnosing Addison's disease (too little cortisol) and the evening measurement, which should be low, is the most useful for diagnosing Cushing's disease (too much cortisol). Salivary cortisol may be a more sensitive measure than serum or plasma.
Source: Regenstrief Help
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Cortisol
- Property
- MCnc
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- Cortis DBS-mCnc
- Display Name
- Cortisol (DBS) [Mass/Vol]
- Consumer Name Alpha Get Info
- Cortisol, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.24
- Last Updated
- Version 2.73
- Order vs. Observation
- Both
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 54076-5 | Endocrine newborn screening panel |
| 54075-7 | Endocrine newborn screening panel (SI units) |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Member of these Groups Get Info
| LOINC Group | Group Name |
|---|---|
| LG43172-2 | Cortisol| |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Cortisol: Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Cortisol: |
| et-EE | Estonian (Estonia) | Kortisool: Synonyms: Juhuslik Kvantitatiivne Veri |
| fr-CA | French (Canada) | Cortisol: |
| fr-FR | French (France) | Cortisol: |
| fr-BE | French (Belgium) | Cortisol: |
| it-IT | Italian (Italy) | Cortisolo: Synonyms: Chimica Concentrazione di Massa Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | cortisol: |
| pt-BR | Portuguese (Brazil) | Cortisol: Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Кортизол: Synonyms: Количественный Кровь Кровь сухая капля Массовая концентрация Точка во времени; |
| tr-TR | Turkish (Turkey) | Kortizol: |
| zh-CN | Chinese (China) | 皮质醇: Synonyms: 17-羟皮质甾酮; |
Example Units
| Unit | Source |
|---|---|
| ug/dL | Example UCUM Units |
54090-6 Thyroid newborn screening panel
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Thyroid newborn screening panel
- Property
- -
- Time
- Pt
- System
- Bld.dot
- Scale
- -
- Method
Additional Names
- Short Name
- NB pnl Thyroid DBS
- Display Name
- Thyroid NBS panel (DBS)
- Consumer Name Alpha Get Info
- Thyroid NBS Panel, Dried blood spot
Basic Attributes
- Class
- PANEL.CHEM
- Type
- Laboratory
- First Released
- Version 2.26
- Last Updated
- Version 2.77
- Order vs. Observation
- Order
- Panel Type
- Panel
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 54076-5 | Endocrine newborn screening panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Panel de tiroides en cribado neonatal: |
| es-MX | Spanish (Mexico) | Panel de detección de tiroides para recién nacidos: |
| fr-FR | French (France) | Anomalie thyroïdienne dépistage néonatal panel: |
| it-IT | Italian (Italy) | Tiroide, panel screening neonatale: Synonyms: Chimica Panel screening neonatale Panel screening neonatale per tiroide Punto nel tempo (episodio) Sangue Set di prescrizione chimica Spot sangue secco |
| nl-NL | Dutch (Netherlands) | thyroïd pasgeborene screening panel: Synonyms: thyroid pasgeborene screening panel |
| pt-BR | Portuguese (Brazil) | Recém nascido triagem tireóide painel: Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Щитовидная скрининг панель: Synonyms: Кровь Кровь сухая капля Точка во времени; |
| zh-CN | Chinese (China) | 甲状腺新生儿筛查组套: Synonyms: Asympt SCN 全血斑点(滤纸); |
46762-1 Congenital hypothyroidism newborn screen interpretation
Part Descriptions
LP56766-6 Congenital hypothyroidism
A condition in infancy or early childhood due to an in-utero deficiency of THYROID HORMONES that can be caused by genetic or environmental factors, such as thyroid dysgenesis or HYPOTHYROIDISM in infants of mothers treated with THIOURACIL during pregnancy. Endemic cretinism is the result of iodine deficiency. Clinical symptoms include severe MENTAL RETARDATION, impaired skeletal development, short stature, and MYXEDEMA.
Source: National Library of Medicine, MeSH 2006
Observation Required in Panel
Required
Fully-Specified Name
- Component
- Congenital hypothyroidism
- Property
- Imp
- Time
- Pt
- System
- Bld.dot
- Scale
- Nom
- Method
Additional Names
- Short Name
- CH DBS-Imp
- Display Name
- Congenital hypothyroidism (DBS) [Interp]
- Consumer Name Alpha Get Info
- Congenital hypothyroidism, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.19
- Last Updated
- Version 2.73
- Change Reason
- Changed answer list from "Normative" to "Preferred" to fit the current LOINC model.
- Order vs. Observation
- Observation
- Common Test Rank Get Info
- 14221
Preferred Answer List LL840-0
| Answer | Code | Score | Answer ID |
|---|---|---|---|
| In range | LA18592-8 | ||
| Borderline | LA4259-3 | ||
| Indeterminate Copyright http://snomed.info/sct ID:82334004 Indeterminate (qualifier value) | LA11884-6 | ||
| Out of range | LA18593-6 | ||
| Out of range requiring further dried blood spot testing for at least one condition | LA12430-7 | ||
| Out of range requiring immediate referral | LA25817-0 | ||
| Out of range requiring immediate second-tier testing for at least one condition | LA12431-5 | ||
| Out of range requiring deferred follow-up for at least one condition | LA18594-4 | ||
| One or more tests pending | LA16204-2 | ||
| Specimen unsatisfactory for at least one condition | LA16205-9 |
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 54076-5 | Endocrine newborn screening panel |
| 54075-7 | Endocrine newborn screening panel (SI units) |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
| 54077-3 | Thyroid newborn screening panel (SI units) |
Member of these Groups Get Info
| LOINC Group | Group Name |
|---|---|
| LG18377-8 | Congenital hypothyroidism| |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Hipotiroidismo Congenito: |
| es-MX | Spanish (Mexico) | Hipotiroidismo congénito: |
| fr-CA | French (Canada) | Hypothyroïdie congénitale: |
| fr-FR | French (France) | Hypothyroïdisme congénital: |
| fr-BE | French (Belgium) | Hypothyroïdie congénitale: |
| it-IT | Italian (Italy) | Ipotiroidismo congenito: Synonyms: Chimica Impressione/interpretazione di studio Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | congenitale hypothyreoïdie: |
| pt-BR | Portuguese (Brazil) | Hipotireoidismo congênito: Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Врождённый гипотиреоидизм: Synonyms: Впечатление/интерпретация исследования Кровь Кровь сухая капля Номинальный; |
| tr-TR | Turkish (Turkey) | Konjenital hipotiroizm: |
| zh-CN | Chinese (China) | 先天性甲状腺机能减退: Synonyms: CH; |
Third Party Copyright
This material includes SNOMED Clinical Terms® (SNOMED CT®) which is used by permission of the International Health Terminology Standards Development Organisation (IHTSDO) under license. All rights reserved. SNOMED CT® was originally created by The College of American Pathologists. "SNOMED" and "SNOMED CT" are registered trademarks of the IHTSDO.
This material includes content from the US Edition to SNOMED CT, which is developed and maintained by the U.S. National Library of Medicine and is available to authorized UMLS Metathesaurus Licensees from the UTS Downloads site at https://uts.nlm.nih.gov.
Use of SNOMED CT content is subject to the terms and conditions set forth in the SNOMED CT Affiliate License Agreement. It is the responsibility of those implementing this product to ensure they are appropriately licensed and for more information on the license, including how to register as an Affiliate Licensee, please refer to http://www.snomed.org/snomed-ct/get-snomed-ct or info@snomed.org<mailto:info@snomed.org>. This may incur a fee in SNOMED International non-Member countries.
57705-6 Congenital hypothyroidism newborn screening comment-discussion
Part Descriptions
LP56766-6 Congenital hypothyroidism
A condition in infancy or early childhood due to an in-utero deficiency of THYROID HORMONES that can be caused by genetic or environmental factors, such as thyroid dysgenesis or HYPOTHYROIDISM in infants of mothers treated with THIOURACIL during pregnancy. Endemic cretinism is the result of iodine deficiency. Clinical symptoms include severe MENTAL RETARDATION, impaired skeletal development, short stature, and MYXEDEMA.
Source: National Library of Medicine, MeSH 2006
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Congenital hypothyroidism newborn screening comment-discussion
- Property
- Txt
- Time
- Pt
- System
- Bld.dot
- Scale
- Nar
- Method
Additional Names
- Short Name
- CH NBS comment
- Display Name
- Congenital hypothyroidism newborn screening comment-discussion Nar (DBS)
- Consumer Name Alpha Get Info
- Congenital hypothyroidism newborn screening comment-discussion, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.29
- Last Updated
- Version 2.73
- Order vs. Observation
- Observation
- Common Test Rank Get Info
- 19792
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 54076-5 | Endocrine newborn screening panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Hipotiroidismo Congenito screnning de recién nacidos comentario-discusión: |
| es-MX | Spanish (Mexico) | Hipotiroidismo congénito cribado neonatal comentario-discusión: |
| fr-FR | French (France) | Hypothyroïdisme congénital dépistage néonatal (commentaire-discusssion): |
| fr-BE | French (Belgium) | Hypothyroïdie congénitale Commentaires.screening néonatal.discussion: |
| it-IT | Italian (Italy) | Ipotiroidismo congenito, screening neonatale, commenti-discussione: Synonyms: Chimica Commento/discussione di screening neonatale per ipotiroidismo congenito Punto nel tempo (episodio) Sangue Spot sangue secco Testo |
| nl-NL | Dutch (Netherlands) | congenitale hypothyreoïdie screening van pasgeborene commentaar-discussie: |
| pt-BR | Portuguese (Brazil) | Hipotireoidismo congênito na triagem neonatal comentários-discussão: Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Врождённый гипотиреоидизм новорожденный скрининг комментарий-дискуссия: Synonyms: Кровь Кровь сухая капля Описательный Текст Точка во времени; |
| tr-TR | Turkish (Turkey) | Konjenital hipotiroizm yenidoğan tarama öneri-tartışma: |
| zh-CN | Chinese (China) | 先天性甲状腺机能减退 新生儿筛查注释-讨论: Synonyms: Asympt CH; |
31144-9 Thyroxine (T4) [Mass/volume] in DBS
Part Descriptions
LP15900-1 Thyroxine
The major hormone derived from the thyroid gland. Thyroxine is synthesized via the iodination of tyrosine (monoiodotyrosine) and the coupling of iodotyrosine (diiodotyrosine) in thyroglobulin. Thyroxine is separated from thyroglobulin by proteolysis and released in the blood. Thyroxine is peripherally deiodinated to form triiodothyronine which exerts broad stimulatory effects on cell metabolism.
Source: National Library of Medicine, MeSH 2006
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Thyroxine
- Property
- MCnc
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- T4 DBS-mCnc
- Display Name
- T4 (DBS) [Mass/Vol]
- Consumer Name Alpha Get Info
- T4, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.07
- Last Updated
- Version 2.73
- Order vs. Observation
- Both
- Common Test Rank Get Info
- 580
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 54076-5 | Endocrine newborn screening panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Member of these Groups Get Info
| LOINC Group | Group Name |
|---|---|
| LG46372-5 | Thyroxine| |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Tiroxina: Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Tiroxina: |
| es-AR | Spanish (Argentina) | tiroxina: |
| et-EE | Estonian (Estonia) | Türoksiin: Synonyms: Juhuslik Kvantitatiivne Veri |
| fr-CA | French (Canada) | Thyroxine: |
| fr-FR | French (France) | Thyroxine: |
| fr-BE | French (Belgium) | Thyroxine: Synonyms: T4 |
| it-IT | Italian (Italy) | Tiroxina: Synonyms: Chimica Concentrazione di Massa Punto nel tempo (episodio) Sangue Spot sangue secco |
| ko-KR | Korean (Korea, Republic Of) | 티록신: |
| nl-NL | Dutch (Netherlands) | thyroxine: |
| pl-PL | Polish (Poland) | Tyroksyna: |
| pt-BR | Portuguese (Brazil) | Tiroxina: Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Тироксин: Synonyms: Количественный Кровь Кровь сухая капля Массовая концентрация Точка во времени; |
| tr-TR | Turkish (Turkey) | Tiroksin: |
| zh-CN | Chinese (China) | 甲状腺素: Synonyms: T4; |
Example Units
| Unit | Source |
|---|---|
| ug/dL | Example UCUM Units |
| mcg/dL | REGENSTRIEF |
29575-8 Thyrotropin [Units/volume] in DBS
Part Descriptions
LP14487-0 Thyrotropin
A glycoprotein hormone secreted by the adenohypophysis (anterior pituitary gland). Thyrotropin stimulates the thyroid gland by increasing the iodide transport, synthesis and release of thyroid hormones (thyroxine and triiodothyronine). Thyrotropin consists of two noncovalently linked subunits, alpha and beta. Within a species, the alpha subunit is common in the pituitary glycoprotein hormones (TSH; Luteinizing hormone and FSH), but the beta subunit is unique and confers its biological specificity.
Source: National Library of Medicine, MeSH 2006
Reference Information
| Type | Source | Reference |
|---|---|---|
| Webcontent | Lab Tests Online®Copyright Copyright © 2021 Lab Tests Online. All rights reserved. | Thyroid-stimulating Hormone (TSH) |
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Thyrotropin
- Property
- ACnc
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- TSH DBS-aCnc
- Display Name
- TSH Qn (DBS)
- Consumer Name Alpha Get Info
- Thyroid Stimulating Hormone (TSH; Thyrotropin), Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.03
- Last Updated
- Version 2.73
- Order vs. Observation
- Both
- Common Test Rank Get Info
- 581
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 54076-5 | Endocrine newborn screening panel |
| 54075-7 | Endocrine newborn screening panel (SI units) |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
| 54077-3 | Thyroid newborn screening panel (SI units) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Tirotropina: Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Tirotropina: |
| es-AR | Spanish (Argentina) | tirotrofina: |
| et-EE | Estonian (Estonia) | Kilpnääret stimuleeriv hormoon: Synonyms: Juhuslik Kvantitatiivne Türotropiin Veri |
| fr-CA | French (Canada) | Hormone thyréostimulante: |
| fr-FR | French (France) | Thyréostimuline: |
| fr-BE | French (Belgium) | Hormone thyréostimulante: Synonyms: TSH |
| it-IT | Italian (Italy) | Tireotropina: Synonyms: Chimica Concentrazione Arbitraria Punto nel tempo (episodio) Sangue Spot sangue secco TSH |
| ko-KR | Korean (Korea, Republic Of) | 갑상샘자극호르몬: |
| nl-NL | Dutch (Netherlands) | TSH: |
| pl-PL | Polish (Poland) | Tyreotropina: |
| pt-BR | Portuguese (Brazil) | Tirotropina: Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Тиреотропин: Synonyms: Количественный Кровь Кровь сухая капля Произвольная концентрация Точка во времени; |
| tr-TR | Turkish (Turkey) | Tirotropin: |
| zh-CN | Chinese (China) | 促甲状腺激素: Synonyms: TSH; |
Example Units
| Unit | Source |
|---|---|
| m[IU]/L | Example UCUM Units |
| mIU/L | eCHN |
54079-9 Galactosemia newborn screening panel
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Galactosemia newborn screening panel
- Property
- -
- Time
- Pt
- System
- Bld.dot
- Scale
- -
- Method
Additional Names
- Short Name
- NB pnl Galactosemia DBS
- Display Name
- Galactosemia NBS panel (DBS)
- Consumer Name Alpha Get Info
- Galactosemia NBS Panel, Dried blood spot
Basic Attributes
- Class
- PANEL.CHEM
- Type
- Laboratory
- First Released
- Version 2.26
- Last Updated
- Version 2.77
- Order vs. Observation
- Order
- Common Test Rank Get Info
- 18618
- Panel Type
- Panel
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Panel de cribado neonatal para galactosemia: |
| es-MX | Spanish (Mexico) | Panel de cribado neonatal de galactosemia: |
| fr-FR | French (France) | Galactosémie dépistage néonatal panel: |
| it-IT | Italian (Italy) | Galattosemia, panel di screening neonatale: Synonyms: Chimica Panel screening neonatale Panel screening neonatale per galattosemia Punto nel tempo (episodio) Sangue Set di prescrizione chimica Spot sangue secco |
| nl-NL | Dutch (Netherlands) | galactosemie pasgeborene screening panel: |
| pt-BR | Portuguese (Brazil) | Recém nascido triagem galactosemia painel: Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Галактоземия новорождённый скрининг панель: Synonyms: Кровь Кровь сухая капля Точка во времени; |
| zh-CN | Chinese (China) | 半乳糖血症新生儿筛查组套: Synonyms: Asympt SCN 全血斑点(滤纸); |
46737-3 Galactosemias newborn screen interpretation
Observation Required in Panel
Required
Type of Entry
Question expects user entry - requires response [Q]
Fully-Specified Name
- Component
- Galactosemias
- Property
- Imp
- Time
- Pt
- System
- Bld.dot
- Scale
- Nom
- Method
Additional Names
- Short Name
- Galactosemias DBS-Imp
- Display Name
- Galactosemias (DBS) [Interp]
- Consumer Name Alpha Get Info
- Galactosemias, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.19
- Last Updated
- Version 2.73
- Change Reason
- Changed answer list from "Normative" to "Preferred" to fit the current LOINC model.
- Order vs. Observation
- Observation
- Common Test Rank Get Info
- 1405
Preferred Answer List LL840-0
| Answer | Code | Score | Answer ID |
|---|---|---|---|
| In range | LA18592-8 | ||
| Borderline | LA4259-3 | ||
| Indeterminate Copyright http://snomed.info/sct ID:82334004 Indeterminate (qualifier value) | LA11884-6 | ||
| Out of range | LA18593-6 | ||
| Out of range requiring further dried blood spot testing for at least one condition | LA12430-7 | ||
| Out of range requiring immediate referral | LA25817-0 | ||
| Out of range requiring immediate second-tier testing for at least one condition | LA12431-5 | ||
| Out of range requiring deferred follow-up for at least one condition | LA18594-4 | ||
| One or more tests pending | LA16204-2 | ||
| Specimen unsatisfactory for at least one condition | LA16205-9 |
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 54079-9 | Galactosemia newborn screening panel |
| 54080-7 | Galactosemia newborn screening panel (SI units) |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Galactosemias: |
| es-MX | Spanish (Mexico) | Galactosemias: |
| fr-CA | French (Canada) | Galactosémies: |
| fr-FR | French (France) | Galactosémie: |
| fr-BE | French (Belgium) | Galactosémies: |
| it-IT | Italian (Italy) | Galattosemie: Synonyms: Chimica Impressione/interpretazione di studio Punto nel tempo (episodio) Sangue Spot sangue secco |
| ko-KR | Korean (Korea, Republic Of) | 갈락토스혈증: |
| nl-NL | Dutch (Netherlands) | galactosemieën: |
| pt-BR | Portuguese (Brazil) | Galactosemia: Synonyms: Interpretation; |
| ru-RU | Russian (Russian Federation) | Галактоземии: Synonyms: Впечатление/интерпретация исследования Кровь Кровь сухая капля Номинальный; |
| tr-TR | Turkish (Turkey) | Galaktozemiler: |
| zh-CN | Chinese (China) | 半乳糖血症: Synonyms: 全血斑点(滤纸); |
Third Party Copyright
This material includes SNOMED Clinical Terms® (SNOMED CT®) which is used by permission of the International Health Terminology Standards Development Organisation (IHTSDO) under license. All rights reserved. SNOMED CT® was originally created by The College of American Pathologists. "SNOMED" and "SNOMED CT" are registered trademarks of the IHTSDO.
This material includes content from the US Edition to SNOMED CT, which is developed and maintained by the U.S. National Library of Medicine and is available to authorized UMLS Metathesaurus Licensees from the UTS Downloads site at https://uts.nlm.nih.gov.
Use of SNOMED CT content is subject to the terms and conditions set forth in the SNOMED CT Affiliate License Agreement. It is the responsibility of those implementing this product to ensure they are appropriately licensed and for more information on the license, including how to register as an Affiliate Licensee, please refer to http://www.snomed.org/snomed-ct/get-snomed-ct or info@snomed.org<mailto:info@snomed.org>. This may incur a fee in SNOMED International non-Member countries.
57704-9 Galactosemias newborn screening comment-discussion
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Galactosemias newborn screening comment-discussion
- Property
- Txt
- Time
- Pt
- System
- Bld.dot
- Scale
- Nar
- Method
Additional Names
- Short Name
- Galactosemias NBS comment
- Display Name
- Galactosemias newborn screening comment-discussion Nar (DBS)
- Consumer Name Alpha Get Info
- Galactosemias newborn screening comment-discussion, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.29
- Last Updated
- Version 2.73
- Order vs. Observation
- Observation
- Common Test Rank Get Info
- 17841
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 54079-9 | Galactosemia newborn screening panel |
| 54080-7 | Galactosemia newborn screening panel (SI units) |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Galactosemias screnning de recién nacidos comentario-discusión: |
| es-MX | Spanish (Mexico) | Comentario-discusión sobre la detección de galactosemias en recién nacidos: |
| fr-FR | French (France) | Galactosémie dépistage néonatal (commentaire-discussion): |
| fr-BE | French (Belgium) | Galactosémies Commentaires.screening néonatal.discussion: |
| it-IT | Italian (Italy) | Galattosemie, screening neonatale, commenti-discussione: Synonyms: Chimica Commento/discussione di screening neonatale per galattosemie Punto nel tempo (episodio) Sangue Spot sangue secco Testo |
| nl-NL | Dutch (Netherlands) | galactosemieën screening van pasgeborene commentaar-discussie: |
| pt-BR | Portuguese (Brazil) | Galactosemias na triagem neonatal comentários-discussão: Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Галактоземии новорожденный скрининг комментарий-дискуссия: Synonyms: Кровь Кровь сухая капля Описательный Текст Точка во времени; |
| tr-TR | Turkish (Turkey) | Galaktozemiler yenidoğan tarama öneri-tartışma: |
| zh-CN | Chinese (China) | 半乳糖血症 新生儿筛查注释-讨论: Synonyms: Asympt SCN 全血斑点(滤纸); |
54084-9 Galactose [Mass/volume] in DBS
Part Descriptions
LP15263-4 Galactose
Galactose (Gal) (also called brain sugar) is a type of sugar found in dairy products, in sugar beets and other gums and mucilages. It is also synthesized by the body, where it forms part of glycolipids and glycoproteins in several tissues. It is considered a nutritive sweetener because it has food energy. Galactose is less sweet than glucose and not very water-soluble. Galactan is a polymer of the sugar galactose. It is found in hemicellulose and can be converted to galactose by hydrolysis. Galactose is a monosaccharide constituent, together with glucose, of the disaccharide lactose. The hydrolysis of lactose to glucose and galactose is catalyzed by the enzyme beta-galactosidase, a lactase. In the human body, glucose is changed into galactose in order to enable the mammary glands to secrete lactose.
Copyright Text is available under the Creative Commons Attribution/Share-Alike License. See http://creativecommons.org/licenses/by-sa/3.0/ for details.
Source: Wikipedia, Galactose (Wikipedia)
LP15263-4 Galactose
An aldohexose that occurs naturally in the D-form in lactose, cerebrosides, gangliosides, and mucoproteins. Deficiency of galactosyl-1-phosphate uridyltransferase (GALACTOSE-1-PHOSPHATE URIDYL-TRANSFERASE DEFICIENCY DISEASE) causes an error in galactose metabolism called GALACTOSEMIA, resulting in elevations of galactose in the blood.
Source: National Library of Medicine, MeSH 2006
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Galactose
- Property
- MCnc
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- Galactose DBS-mCnc
- Display Name
- Galactose (DBS) [Mass/Vol]
- Consumer Name Alpha Get Info
- Galactose, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.26
- Last Updated
- Version 2.73
- Order vs. Observation
- Both
- Common Test Rank Get Info
- 14170
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 54079-9 | Galactosemia newborn screening panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Member of these Groups Get Info
| LOINC Group | Group Name |
|---|---|
| LG46708-0 | Galactose| |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-MX | Spanish (Mexico) | Galactosa: |
| es-ES | Spanish (Spain) | Galactosa: Synonyms: Cuantitativo |
| et-EE | Estonian (Estonia) | Galaktoos: Synonyms: Juhuslik Kvantitatiivne Veri |
| fr-CA | French (Canada) | Galactose: |
| fr-FR | French (France) | Galactose: |
| fr-BE | French (Belgium) | Galactose: |
| it-IT | Italian (Italy) | Galattosio: Synonyms: Chimica Concentrazione di Massa Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | galactose: |
| pt-BR | Portuguese (Brazil) | Galactose: Synonyms: Cerebrose; |
| ru-RU | Russian (Russian Federation) | Галактоза: Synonyms: Количественный Кровь Кровь сухая капля Массовая концентрация Точка во времени; |
| tr-TR | Turkish (Turkey) | Galaktoz: |
| zh-CN | Chinese (China) | 半乳糖: Synonyms: 乳单糖; |
Example Units
| Unit | Source |
|---|---|
| mg/dL | Example UCUM Units |
33288-2 Galactose 1 phosphate uridyl transferase [Presence] in DBS
Part Descriptions
LP14026-6 Galactose 1 phosphate uridyl transferase
Galactose-1-phosphate uridylyltransferase (or GALT) is an enzyme (EC 2.7.7.12) responsible for converting ingested galactose to glucose. GALT catalyzes the second step of the Leloir pathway of galactose metabolism. The expression of GALT is controlled by the actions of the FOXO3 gene. Deficiency of GALT causes classic galactosemia and can be fatal in the newborn period if lactose is not removed from the diet. Symptoms include ovarian failure, cataracts, and neurologic deficits.
Copyright Text is available under the Creative Commons Attribution/Share-Alike License. See http://creativecommons.org/licenses/by-sa/3.0/ for details.
Source: Wikipedia, Galactose-1-phosphate uridylyltransferase
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Galactose 1 phosphate uridyl transferase
- Property
- PrThr
- Time
- Pt
- System
- Bld.dot
- Scale
- Ord
- Method
Additional Names
- Short Name
- Gal1PUT DBS Ql
- Display Name
- Galactose 1 phosphate uridyl transferase Ql (DBS)
- Consumer Name Alpha Get Info
- Galactose 1 phosphate uridyl transferase, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.09
- Last Updated
- Version 2.73
- Change Reason
- The PrThr property is used for LOINC terms whose results are reported using an ordered categorical scale, regardless of whether or not an internal threshold was used to make that determination. This change was approved by the Laboratory LOINC Committee in June 2016.
- Order vs. Observation
- Both
- Common Test Rank Get Info
- 1408
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 54079-9 | Galactosemia newborn screening panel |
| 54080-7 | Galactosemia newborn screening panel (SI units) |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| de-AT | German (Austria) | Synonyms: Galactose-1-Phosphat-Uridyl-Transferase ql. /BT |
| es-ES | Spanish (Spain) | Galactosa 1 fosfato uridil transferasa: |
| es-MX | Spanish (Mexico) | Galactosa 1 fosfato uridil transferasa: |
| es-AR | Spanish (Argentina) | galactosa 1 fosfato uridiltransferasa: |
| et-EE | Estonian (Estonia) | Galaktoos-1-fosfaaturidüüli transferaas: Synonyms: Järgarvuline Juhuslik Veri |
| fr-CA | French (Canada) | Galactose 1-phosphate uridyl transférase: |
| fr-FR | French (France) | Galactose-1-phosphate uridyl transférase: |
| fr-BE | French (Belgium) | Galactose 1-phosphate uridyl transférase: |
| it-IT | Italian (Italy) | Galattosio 1 fosfato uridil transferasi: Synonyms: Chimica Presenza o Soglia Punto nel tempo (episodio) Sangue Spot sangue secco |
| ko-KR | Korean (Korea, Republic Of) | 갈락토스 1 인산염 우리딜 전이효소: |
| nl-NL | Dutch (Netherlands) | galactose-1-fosfaaturidyltransferase: |
| pt-BR | Portuguese (Brazil) | Galactose 1 Fosfato uridil transferase: Synonyms: Hexose-1-phosphate uridyltransferase; |
| ru-RU | Russian (Russian Federation) | Галактозо 1 фосфат уридил трансфераза: Synonyms: Галактозо-1-фосфат Кровь Кровь сухая капля Порядковый Точка во времени; |
| tr-TR | Turkish (Turkey) | Galaktoz 1 fosfat üridil transferaz: Synonyms: Mevcut |
| zh-CN | Chinese (China) | 半乳糖-1-磷酸尿苷酰转移酶: Synonyms: Ⅰ GAL-1-P; |
42906-8 Galactose 1 phosphate uridyl transferase [Enzymatic activity/volume] in DBS
Part Descriptions
LP14026-6 Galactose 1 phosphate uridyl transferase
Galactose-1-phosphate uridylyltransferase (or GALT) is an enzyme (EC 2.7.7.12) responsible for converting ingested galactose to glucose. GALT catalyzes the second step of the Leloir pathway of galactose metabolism. The expression of GALT is controlled by the actions of the FOXO3 gene. Deficiency of GALT causes classic galactosemia and can be fatal in the newborn period if lactose is not removed from the diet. Symptoms include ovarian failure, cataracts, and neurologic deficits.
Copyright Text is available under the Creative Commons Attribution/Share-Alike License. See http://creativecommons.org/licenses/by-sa/3.0/ for details.
Source: Wikipedia, Galactose-1-phosphate uridylyltransferase
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Galactose 1 phosphate uridyl transferase
- Property
- CCnc
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- Gal1PUT DBS-cCnc
- Display Name
- Galactose 1 phosphate uridyl transferase (DBS) [Catalytic activity/Vol]
- Consumer Name Alpha Get Info
- Galactose 1 phosphate uridyl transferase, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.16
- Last Updated
- Version 2.73
- Order vs. Observation
- Both
- Common Test Rank Get Info
- 19799
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 54079-9 | Galactosemia newborn screening panel |
| 54080-7 | Galactosemia newborn screening panel (SI units) |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Galactosa 1 fosfato uridil transferasa: Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Galactosa 1 fosfato uridil transferasa: |
| et-EE | Estonian (Estonia) | Galaktoos-1-fosfaaturidüüli transferaas: Synonyms: Juhuslik Kvantitatiivne Veri |
| fr-CA | French (Canada) | Galactose 1-phosphate uridyl transférase: |
| fr-FR | French (France) | Galactose-1-phosphate uridyl transférase: |
| fr-BE | French (Belgium) | Galactose 1-phosphate uridyl transférase: |
| it-IT | Italian (Italy) | Galattosio 1 fosfato uridil transferasi: Synonyms: Chimica Concentrazione Catalitica Punto nel tempo (episodio) Sangue Spot sangue secco |
| ko-KR | Korean (Korea, Republic Of) | 갈락토스 1 인산염 우리딜 전이효소: |
| nl-NL | Dutch (Netherlands) | galactose-1-fosfaaturidyltransferase: |
| pt-BR | Portuguese (Brazil) | Galactose 1 Fosfato uridil transferase: Synonyms: Hexose-1-phosphate uridyltransferase; |
| ru-RU | Russian (Russian Federation) | Галактозо 1 фосфат уридил трансфераза: Synonyms: Галактозо-1-фосфат Каталитическая концентрация Количественный Кровь Кровь сухая капля Точка во времени; |
| tr-TR | Turkish (Turkey) | Galaktoz 1 fosfat üridil transferaz: |
| zh-CN | Chinese (China) | 半乳糖-1-磷酸尿苷酰转移酶: Synonyms: Ⅰ GAL-1-P; |
Example Units
| Unit | Source |
|---|---|
| nmol/h/mL | Example UCUM Units |
40842-7 Galactose 1 phosphate [Mass/volume] in DBS
Part Descriptions
LP15586-8 Galactose 1 phosphate
Galactose-1-phosphate uridylyltransferase (or GALT) is an enzyme (EC 2.7.7.12) responsible for converting ingested galactose to glucose. Deficiency of GALT causes galactosemia. The GALT gene is located on the ninth chromosome (9p13).
Copyright Text is available under the Creative Commons Attribution/Share-Alike License. See http://creativecommons.org/licenses/by-sa/3.0/ for details.
Source: Wikipedia, Galactose 1 phosphate (Wikipedia)
LP15586-8 Galactose 1 phosphate
Measures galactose-1-phosphate concentrations when galactosemia patients are challenged with galactose load.
Source: Regenstrief Institute
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Galactose 1 phosphate
- Property
- MCnc
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- Gal1PO4 DBS-mCnc
- Display Name
- Galactose 1 phosphate (DBS) [Mass/Vol]
- Consumer Name Alpha Get Info
- Galactose 1 phosphate, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.15
- Last Updated
- Version 2.70
- Order vs. Observation
- Both
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 54079-9 | Galactosemia newborn screening panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| de-DE | German (Germany) | Galaktose-1-Phosphat: |
| es-ES | Spanish (Spain) | Galactosa 1 fosfato: Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Fosfato de galactosa 1: |
| et-EE | Estonian (Estonia) | Galaktoos-1-fosfaat: Synonyms: Juhuslik Kvantitatiivne Veri |
| fr-CA | French (Canada) | Galactose-1-phosphate: |
| fr-FR | French (France) | Galactose-1-phosphate: |
| fr-BE | French (Belgium) | Galactose-1-phosphate: |
| it-IT | Italian (Italy) | Galattosio 1 fosfato: Synonyms: Chimica Concentrazione di Massa Punto nel tempo (episodio) Sangue Spot sangue secco |
| ko-KR | Korean (Korea, Republic Of) | 갈락토스 1 인산염: |
| nl-NL | Dutch (Netherlands) | galactose-1-fosfaat: |
| pt-BR | Portuguese (Brazil) | Galactose 1 Fosfato: Synonyms: Phos; |
| ru-RU | Russian (Russian Federation) | Галактоза 1 фосфат: Synonyms: Галактозо-1-фосфат Количественный Кровь Кровь сухая капля Массовая концентрация Точка во времени; |
| tr-TR | Turkish (Turkey) | Galaktoz 1 fosfat: |
| zh-CN | Chinese (China) | 半乳糖-1-磷酸: Synonyms: Ⅰ GAL-1-P; |
Example Units
| Unit | Source |
|---|---|
| mg/dL | Example UCUM Units |
54081-5 Hemoglobinopathies newborn screening panel
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Hemoglobinopathies newborn screening panel
- Property
- -
- Time
- Pt
- System
- Bld.dot
- Scale
- -
- Method
Additional Names
- Short Name
- NB pnl Hemoglobinopathies DBS
- Display Name
- Hemoglobinopathies NBS panel (DBS)
- Consumer Name Alpha Get Info
- Hemoglobinopathies NBS Panel, Dried blood spot
Basic Attributes
- Class
- PANEL.HEM/BC
- Type
- Laboratory
- First Released
- Version 2.26
- Last Updated
- Version 2.77
- Order vs. Observation
- Order
- Common Test Rank Get Info
- 19207
- Panel Type
- Panel
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Panel de cribado neonatal de hemoglobinopatías: |
| es-MX | Spanish (Mexico) | Panel de cribado neonatal de hemoglobinopatías: |
| fr-FR | French (France) | Hémoglobinopathies dépistage néonatal panel: |
| fr-BE | French (Belgium) | Panel screening nouveau-né Hémoglobinopathies: |
| it-IT | Italian (Italy) | Emoglobinopatie, panel screening neonatale: Synonyms: Ematologia (coagulazione) conta differenziale Panel screening neonatale Panel screening neonatale per emoglobinopatie Punto nel tempo (episodio) Sangue Set di prescrizione per ematologia e conta del san Spot sangue secco |
| nl-NL | Dutch (Netherlands) | hemoglobineopathieën pasgeborene screening panel: |
| pl-PL | Polish (Poland) | Test przesiewowy wykrywania hemoglobinopatii u noworodków: |
| pt-BR | Portuguese (Brazil) | Hemoglobinopatias triagem neonatal,painel: Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Гемоглобинопатии новорождённый скрининг панель: Synonyms: Кровь Кровь сухая капля Точка во времени; |
| zh-CN | Chinese (China) | 血红蛋白病新生儿筛查组套: Synonyms: Asympt SCN 全血斑点(滤纸); |
64116-7 Hemoglobin observations newborn screening panel
Fully-Specified Name
- Component
- Hemoglobin observations newborn screening panel
- Property
- -
- Time
- Pt
- System
- Bld.dot
- Scale
- -
- Method
Additional Names
- Short Name
- Hb observations NBS pnl DBS
- Display Name
- Hemoglobin observations NBS panel (DBS)
- Consumer Name Alpha Get Info
- Hemoglobin Observations NBS Panel, Dried blood spot
Basic Attributes
- Class
- PANEL.HEM/BC
- Type
- Laboratory
- First Released
- Version 2.36
- Last Updated
- Version 2.77
- Order vs. Observation
- Order
- Common Test Rank Get Info
- 14194
- Panel Type
- Panel
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54081-5 | Hemoglobinopathies newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| de-DE | German (Germany) | Hämoglobinuntersuchung Neugeborenenscreening (Liste): |
| es-ES | Spanish (Spain) | Perfilde screening de observaciones de hemoglobina en recien nacidos: |
| es-MX | Spanish (Mexico) | Observaciones de hemoglobina panel de detección de recién nacidos: |
| fr-FR | French (France) | Hemoglobine dépistage néonatal panel: |
| it-IT | Italian (Italy) | Osservazioni emoglobina, panel screening neonatale: Synonyms: Ematologia (coagulazione) conta differenziale Panel screening neonatale Panel screening neonatale per osservazioni emoglob Punto nel tempo (episodio) Sangue Set di prescrizione per ematologia e conta del san Spot sangue secco |
| nl-NL | Dutch (Netherlands) | hemoglobine waarnemingen pasgeborene screeningspanel: |
| pl-PL | Polish (Poland) | Badania hemoglobiny w panelu przesiewowym noworodka: |
| ru-RU | Russian (Russian Federation) | Гемоглобина исследования новорожденных скринига панель: Synonyms: Кровь Кровь сухая капля Точка во времени; |
| zh-CN | Chinese (China) | 血红蛋白观测新生儿筛查组套: Synonyms: Asympt SCN 全血斑点(滤纸); |
64122-5 Hemoglobins that can be presumptively identified based on available controls in DBS
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Hemoglobins that can be presumptively identified based on available controls
- Property
- Find
- Time
- Pt
- System
- Bld.dot
- Scale
- Nom
- Method
Additional Names
- Short Name
- Hb pres ID based on avail contr DBS
- Display Name
- Hemoglobins that can be presumptively identified based on available controls Nom (DBS)
- Consumer Name Alpha Get Info
- Dried blood spot Hemoglobins that can be presumptively identified based on available controls test
Basic Attributes
- Class
- HEM/BC
- Type
- Laboratory
- First Released
- Version 2.36
- Last Updated
- Version 2.73
- Change Reason
- Changed answer list from "Normative" to "Example" to fit the current LOINC model.
- Order vs. Observation
- Observation
Example Answer List LL1511-6
| Answer | Code | Score | Answer ID |
|---|---|---|---|
| Hb F | LA16208-3 | ||
| Hb A | LA16209-1 | ||
| Hb A - indeterminate | LA16210-9 | ||
| Hb A2 | LA16211-7 | ||
| Hb A2 - elevated | LA16212-5 | ||
| Hb Bart's - low level | LA16213-3 | ||
| Hb Bart's - highly elevated | LA16214-1 | ||
| Hb C | LA13002-3 | ||
| Hb Constant Spring | LA16215-8 | ||
| Hb D | LA13003-1 | ||
| Hb D-Punjab | LA16216-6 | ||
| Hb D/G | LA16217-4 | ||
| Hb E | LA13005-6 | ||
| Hb G | LA16218-2 | ||
| Hb G-Philadelphia | LA16219-0 | ||
| Hb H | LA16220-8 | ||
| Hb Lepore Boston | LA16221-6 | ||
| Hb O-Arab | LA16222-4 | ||
| Hb S | LA13007-2 | ||
| Hb unidentified | LA16223-2 |
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54081-5 | Hemoglobinopathies newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| de-DE | German (Germany) | Hämoglobine, die auf der Grundlage der verfügbaren Kontrollen vermutlich identifiziert werden können: |
| es-ES | Spanish (Spain) | Hemoglobinas que presuntamente pueden ser identificadas basandose en controles disponibles: |
| es-MX | Spanish (Mexico) | Hemoglobinas que pueden identificarse presuntamente según los controles disponibles.: |
| fr-FR | French (France) | Hémoglobines identifiées par contrôles disponibles: |
| it-IT | Italian (Italy) | Emoglobine che possono essere presumibilmente identificate in base ai controlli disponibili: Synonyms: Ematologia (coagulazione) conta differenziale Osservazione Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | hemoglobinen die vermoedelijk kunnen worden geïdentificeerd op basis van beschikbaar controle materiaal: |
| pl-PL | Polish (Poland) | Hemoglobiny, które można wstępnie zidentyfikować na podstawie dostępnych badań kontrolnych: |
| ru-RU | Russian (Russian Federation) | Гемоглобин, который может быть предположительно идентифицирован на основании доступных средств: Synonyms: Кровь Кровь сухая капля Номинальный; |
| tr-TR | Turkish (Turkey) | Hemoglobinler, mevcut kontrol göre varsayımsal olarak saptanabilen: |
| zh-CN | Chinese (China) | 依据现有对照可推测确定的血红蛋白: Synonyms: 全血斑点(滤纸); |
64117-5 Most predominant hemoglobin in DBS
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Most predominant hemoglobin
- Property
- Find
- Time
- Pt
- System
- Bld.dot
- Scale
- Nom
- Method
Additional Names
- Short Name
- Most predominant Hb DBS
- Display Name
- Most predominant hemoglobin Nom (DBS)
- Consumer Name Alpha Get Info
- Most predominant hemoglobin, Dried blood spot
Basic Attributes
- Class
- HEM/BC
- Type
- Laboratory
- First Released
- Version 2.36
- Last Updated
- Version 2.73
- Change Reason
- Changed answer list from "Normative" to "Example" to fit the current LOINC model.
- Order vs. Observation
- Observation
Example Answer List LL1511-6
| Answer | Code | Score | Answer ID |
|---|---|---|---|
| Hb F | LA16208-3 | ||
| Hb A | LA16209-1 | ||
| Hb A - indeterminate | LA16210-9 | ||
| Hb A2 | LA16211-7 | ||
| Hb A2 - elevated | LA16212-5 | ||
| Hb Bart's - low level | LA16213-3 | ||
| Hb Bart's - highly elevated | LA16214-1 | ||
| Hb C | LA13002-3 | ||
| Hb Constant Spring | LA16215-8 | ||
| Hb D | LA13003-1 | ||
| Hb D-Punjab | LA16216-6 | ||
| Hb D/G | LA16217-4 | ||
| Hb E | LA13005-6 | ||
| Hb G | LA16218-2 | ||
| Hb G-Philadelphia | LA16219-0 | ||
| Hb H | LA16220-8 | ||
| Hb Lepore Boston | LA16221-6 | ||
| Hb O-Arab | LA16222-4 | ||
| Hb S | LA13007-2 | ||
| Hb unidentified | LA16223-2 |
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54081-5 | Hemoglobinopathies newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| de-DE | German (Germany) | Häufigstes Hämoglobin: |
| es-ES | Spanish (Spain) | Hemoglobina mas predominante: |
| es-MX | Spanish (Mexico) | Hemoglobina más predominante: |
| fr-FR | French (France) | Hémoglobine prédominante: |
| it-IT | Italian (Italy) | Emoglobina più predominante: Synonyms: Ematologia (coagulazione) conta differenziale Osservazione Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | meest overheersende hemoglobine: |
| ru-RU | Russian (Russian Federation) | Наиболее преобладающий гемоглобин: Synonyms: Кровь Кровь сухая капля Номинальный; |
| tr-TR | Turkish (Turkey) | En yaygın hemoglobin: |
| zh-CN | Chinese (China) | 最主要的血红蛋白: Synonyms: 全血斑点(滤纸); |
64118-3 Second most predominant hemoglobin in DBS
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Second most predominant hemoglobin
- Property
- Find
- Time
- Pt
- System
- Bld.dot
- Scale
- Nom
- Method
Additional Names
- Short Name
- 2nd most predominant Hb DBS
- Display Name
- Second most predominant hemoglobin Nom (DBS)
- Consumer Name Alpha Get Info
- Second most predominant hemoglobin, Dried blood spot
Basic Attributes
- Class
- HEM/BC
- Type
- Laboratory
- First Released
- Version 2.36
- Last Updated
- Version 2.73
- Change Reason
- Changed answer list from "Normative" to "Example" to fit the current LOINC model.
- Order vs. Observation
- Observation
Example Answer List LL1511-6
| Answer | Code | Score | Answer ID |
|---|---|---|---|
| Hb F | LA16208-3 | ||
| Hb A | LA16209-1 | ||
| Hb A - indeterminate | LA16210-9 | ||
| Hb A2 | LA16211-7 | ||
| Hb A2 - elevated | LA16212-5 | ||
| Hb Bart's - low level | LA16213-3 | ||
| Hb Bart's - highly elevated | LA16214-1 | ||
| Hb C | LA13002-3 | ||
| Hb Constant Spring | LA16215-8 | ||
| Hb D | LA13003-1 | ||
| Hb D-Punjab | LA16216-6 | ||
| Hb D/G | LA16217-4 | ||
| Hb E | LA13005-6 | ||
| Hb G | LA16218-2 | ||
| Hb G-Philadelphia | LA16219-0 | ||
| Hb H | LA16220-8 | ||
| Hb Lepore Boston | LA16221-6 | ||
| Hb O-Arab | LA16222-4 | ||
| Hb S | LA13007-2 | ||
| Hb unidentified | LA16223-2 |
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54081-5 | Hemoglobinopathies newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| de-DE | German (Germany) | Zweithäufigstes Hämoglobin: |
| es-ES | Spanish (Spain) | Segunda hemoglobina mas predominante: |
| es-MX | Spanish (Mexico) | Segunda hemoglobina más predominante: |
| fr-FR | French (France) | Hémoglobine prédominante 2nd: |
| it-IT | Italian (Italy) | Seconda emoglobina più predominante: Synonyms: Ematologia (coagulazione) conta differenziale Osservazione Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | tweede meest overheersende hemoglobine: |
| ru-RU | Russian (Russian Federation) | Второй наиболее преобладающий гемоглобин: Synonyms: Кровь Кровь сухая капля Номинальный; |
| tr-TR | Turkish (Turkey) | İkinci en yaygın hemoglobin: |
| zh-CN | Chinese (China) | 第2位最主要的血红蛋白: Synonyms: 2nd 全血斑点(滤纸); |
64119-1 Third most predominant hemoglobin in DBS
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Third most predominant hemoglobin
- Property
- Find
- Time
- Pt
- System
- Bld.dot
- Scale
- Nom
- Method
Additional Names
- Short Name
- 3rd most predominant Hb DBS
- Display Name
- Third most predominant hemoglobin Nom (DBS)
- Consumer Name Alpha Get Info
- Third most predominant hemoglobin, Dried blood spot
Basic Attributes
- Class
- HEM/BC
- Type
- Laboratory
- First Released
- Version 2.36
- Last Updated
- Version 2.73
- Change Reason
- Changed answer list from "Normative" to "Example" to fit the current LOINC model.
- Order vs. Observation
- Observation
Example Answer List LL1511-6
| Answer | Code | Score | Answer ID |
|---|---|---|---|
| Hb F | LA16208-3 | ||
| Hb A | LA16209-1 | ||
| Hb A - indeterminate | LA16210-9 | ||
| Hb A2 | LA16211-7 | ||
| Hb A2 - elevated | LA16212-5 | ||
| Hb Bart's - low level | LA16213-3 | ||
| Hb Bart's - highly elevated | LA16214-1 | ||
| Hb C | LA13002-3 | ||
| Hb Constant Spring | LA16215-8 | ||
| Hb D | LA13003-1 | ||
| Hb D-Punjab | LA16216-6 | ||
| Hb D/G | LA16217-4 | ||
| Hb E | LA13005-6 | ||
| Hb G | LA16218-2 | ||
| Hb G-Philadelphia | LA16219-0 | ||
| Hb H | LA16220-8 | ||
| Hb Lepore Boston | LA16221-6 | ||
| Hb O-Arab | LA16222-4 | ||
| Hb S | LA13007-2 | ||
| Hb unidentified | LA16223-2 |
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54081-5 | Hemoglobinopathies newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| de-DE | German (Germany) | Dritthäufigstes Hämoglobin: |
| es-ES | Spanish (Spain) | Tercera hemoglobina mas predominante: |
| es-MX | Spanish (Mexico) | Tercera hemoglobina más predominante: |
| fr-FR | French (France) | Hémoglobine prédominante 3ème: |
| it-IT | Italian (Italy) | Terza emoglobina più predominante: Synonyms: Ematologia (coagulazione) conta differenziale Osservazione Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | derde meest overheersende hemoglobine: |
| ru-RU | Russian (Russian Federation) | Третий наиболее преобладающий гемоглобин: Synonyms: Кровь Кровь сухая капля Номинальный; |
| tr-TR | Turkish (Turkey) | Üçüncü en yaygın hemoglobin: |
| zh-CN | Chinese (China) | 第3位最主要的血红蛋白: Synonyms: 全血斑点(滤纸); |
64120-9 Fourth most predominant hemoglobin in DBS
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Fourth most predominant hemoglobin
- Property
- Find
- Time
- Pt
- System
- Bld.dot
- Scale
- Nom
- Method
Additional Names
- Short Name
- 4th most predominant Hb DBS
- Display Name
- Fourth most predominant hemoglobin Nom (DBS)
- Consumer Name Alpha Get Info
- Fourth most predominant hemoglobin, Dried blood spot
Basic Attributes
- Class
- HEM/BC
- Type
- Laboratory
- First Released
- Version 2.36
- Last Updated
- Version 2.73
- Change Reason
- Changed answer list from "Normative" to "Example" to fit the current LOINC model.
- Order vs. Observation
- Observation
Example Answer List LL1511-6
| Answer | Code | Score | Answer ID |
|---|---|---|---|
| Hb F | LA16208-3 | ||
| Hb A | LA16209-1 | ||
| Hb A - indeterminate | LA16210-9 | ||
| Hb A2 | LA16211-7 | ||
| Hb A2 - elevated | LA16212-5 | ||
| Hb Bart's - low level | LA16213-3 | ||
| Hb Bart's - highly elevated | LA16214-1 | ||
| Hb C | LA13002-3 | ||
| Hb Constant Spring | LA16215-8 | ||
| Hb D | LA13003-1 | ||
| Hb D-Punjab | LA16216-6 | ||
| Hb D/G | LA16217-4 | ||
| Hb E | LA13005-6 | ||
| Hb G | LA16218-2 | ||
| Hb G-Philadelphia | LA16219-0 | ||
| Hb H | LA16220-8 | ||
| Hb Lepore Boston | LA16221-6 | ||
| Hb O-Arab | LA16222-4 | ||
| Hb S | LA13007-2 | ||
| Hb unidentified | LA16223-2 |
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54081-5 | Hemoglobinopathies newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| de-DE | German (Germany) | Vierthäufigstes Hämoglobin: |
| es-ES | Spanish (Spain) | Cuarta hemoglobina mas predominante: |
| es-MX | Spanish (Mexico) | Cuarto hemoglobina más predominante: |
| fr-FR | French (France) | Hémoglobine prédominante 4ème: |
| it-IT | Italian (Italy) | Quarta emoglobina più predominante: Synonyms: Ematologia (coagulazione) conta differenziale Osservazione Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | vierde meest overheersende hemoglobine: |
| ru-RU | Russian (Russian Federation) | Четвертый наиболее преобладающий гемоглобин: Synonyms: Кровь Кровь сухая капля Номинальный; |
| tr-TR | Turkish (Turkey) | Dördüncü en yaygın hemoglobin: |
| zh-CN | Chinese (China) | 第4位最主要的血红蛋白: Synonyms: 全血斑点(滤纸); |
64121-7 Fifth most predominant hemoglobin in DBS
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Fifth most predominant hemoglobin
- Property
- Find
- Time
- Pt
- System
- Bld.dot
- Scale
- Nom
- Method
Additional Names
- Short Name
- 5th most predominant Hb DBS
- Display Name
- Fifth most predominant hemoglobin Nom (DBS)
- Consumer Name Alpha Get Info
- Fifth most predominant hemoglobin, Dried blood spot
Basic Attributes
- Class
- HEM/BC
- Type
- Laboratory
- First Released
- Version 2.36
- Last Updated
- Version 2.73
- Change Reason
- Changed answer list from "Normative" to "Example" to fit the current LOINC model.
- Order vs. Observation
- Observation
Example Answer List LL1511-6
| Answer | Code | Score | Answer ID |
|---|---|---|---|
| Hb F | LA16208-3 | ||
| Hb A | LA16209-1 | ||
| Hb A - indeterminate | LA16210-9 | ||
| Hb A2 | LA16211-7 | ||
| Hb A2 - elevated | LA16212-5 | ||
| Hb Bart's - low level | LA16213-3 | ||
| Hb Bart's - highly elevated | LA16214-1 | ||
| Hb C | LA13002-3 | ||
| Hb Constant Spring | LA16215-8 | ||
| Hb D | LA13003-1 | ||
| Hb D-Punjab | LA16216-6 | ||
| Hb D/G | LA16217-4 | ||
| Hb E | LA13005-6 | ||
| Hb G | LA16218-2 | ||
| Hb G-Philadelphia | LA16219-0 | ||
| Hb H | LA16220-8 | ||
| Hb Lepore Boston | LA16221-6 | ||
| Hb O-Arab | LA16222-4 | ||
| Hb S | LA13007-2 | ||
| Hb unidentified | LA16223-2 |
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54081-5 | Hemoglobinopathies newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| de-DE | German (Germany) | Fünfthäufigstes Hämoglobin: |
| es-ES | Spanish (Spain) | Quinta hemoglobina mas predominante: |
| es-MX | Spanish (Mexico) | Quinta hemoglobina más predominante: |
| fr-FR | French (France) | Hémoglobine prédominante 5ème: |
| it-IT | Italian (Italy) | Quinta emoglobina più predominante: Synonyms: Ematologia (coagulazione) conta differenziale Osservazione Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | vijfde meest overheersende hemoglobine: |
| ru-RU | Russian (Russian Federation) | Пятый наиболее преобладающий гемоглобин: Synonyms: Кровь Кровь сухая капля Номинальный; |
| tr-TR | Turkish (Turkey) | Beşinci en yaygın hemoglobin: |
| zh-CN | Chinese (China) | 第5位最主要的血红蛋白: Synonyms: 全血斑点(滤纸); |
46740-7 Hemoglobin disorders newborn screen interpretation
Part Descriptions
LP31618-9 Hemoglobin disorders
A group of inherited disorders characterized by structural alterations within the hemoglobin molecule.
Source: National Library of Medicine, MeSH 2006
Observation Required in Panel
Required
Fully-Specified Name
- Component
- Hemoglobin disorders
- Property
- Imp
- Time
- Pt
- System
- Bld.dot
- Scale
- Nom
- Method
Additional Names
- Short Name
- Hemoglobin disorders DBS-Imp
- Display Name
- Hemoglobin disorders (DBS) [Interp]
- Consumer Name Alpha Get Info
- Hemoglobin disorders, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.19
- Last Updated
- Version 2.73
- Change Reason
- Changed answer list from "Normative" to "Preferred" to fit the current LOINC model.
- Order vs. Observation
- Observation
- Common Test Rank Get Info
- 543
Preferred Answer List LL840-0
| Answer | Code | Score | Answer ID |
|---|---|---|---|
| In range | LA18592-8 | ||
| Borderline | LA4259-3 | ||
| Indeterminate Copyright http://snomed.info/sct ID:82334004 Indeterminate (qualifier value) | LA11884-6 | ||
| Out of range | LA18593-6 | ||
| Out of range requiring further dried blood spot testing for at least one condition | LA12430-7 | ||
| Out of range requiring immediate referral | LA25817-0 | ||
| Out of range requiring immediate second-tier testing for at least one condition | LA12431-5 | ||
| Out of range requiring deferred follow-up for at least one condition | LA18594-4 | ||
| One or more tests pending | LA16204-2 | ||
| Specimen unsatisfactory for at least one condition | LA16205-9 |
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54081-5 | Hemoglobinopathies newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Hemoglobinopatías: |
| es-MX | Spanish (Mexico) | Trastornos de la hemoglobina: |
| fr-CA | French (Canada) | Hémoglobinopathies: |
| fr-FR | French (France) | Troubles de l'hémoglobine: |
| fr-BE | French (Belgium) | Hémoglobinopathies: Synonyms: Hb |
| it-IT | Italian (Italy) | Emoglobina, disturbi: Synonyms: Chimica disturbi di emoglobina Impressione/interpretazione di studio Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | hemoglobine-aandoeningen: |
| pt-BR | Portuguese (Brazil) | Hemoglobinopatias: Synonyms: Hemoglobinopathies; |
| ru-RU | Russian (Russian Federation) | Гемоглобинозы: Synonyms: Впечатление/интерпретация исследования Кровь Кровь сухая капля Номинальный; |
| tr-TR | Turkish (Turkey) | Hemoglobin bozuklukları: |
| zh-CN | Chinese (China) | 血红蛋白病: Synonyms: 全血斑点(滤纸); |
Third Party Copyright
This material includes SNOMED Clinical Terms® (SNOMED CT®) which is used by permission of the International Health Terminology Standards Development Organisation (IHTSDO) under license. All rights reserved. SNOMED CT® was originally created by The College of American Pathologists. "SNOMED" and "SNOMED CT" are registered trademarks of the IHTSDO.
This material includes content from the US Edition to SNOMED CT, which is developed and maintained by the U.S. National Library of Medicine and is available to authorized UMLS Metathesaurus Licensees from the UTS Downloads site at https://uts.nlm.nih.gov.
Use of SNOMED CT content is subject to the terms and conditions set forth in the SNOMED CT Affiliate License Agreement. It is the responsibility of those implementing this product to ensure they are appropriately licensed and for more information on the license, including how to register as an Affiliate Licensee, please refer to http://www.snomed.org/snomed-ct/get-snomed-ct or info@snomed.org<mailto:info@snomed.org>. This may incur a fee in SNOMED International non-Member countries.
57703-1 Hemoglobin disorders newborn screening comment-discussion
Part Descriptions
LP31618-9 Hemoglobin disorders
A group of inherited disorders characterized by structural alterations within the hemoglobin molecule.
Source: National Library of Medicine, MeSH 2006
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Hemoglobin disorders newborn screening comment-discussion
- Property
- Txt
- Time
- Pt
- System
- Bld.dot
- Scale
- Nar
- Method
Additional Names
- Short Name
- Hemoglobin disorders NBS comment
- Display Name
- Hemoglobin disorders newborn screening comment-discussion Nar (DBS)
- Consumer Name Alpha Get Info
- Hemoglobin disorders newborn screening comment-discussion, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.29
- Last Updated
- Version 2.73
- Order vs. Observation
- Observation
- Common Test Rank Get Info
- 17794
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54081-5 | Hemoglobinopathies newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Hemoglobinopatías screnning de recién nacidos comentario-discusión: |
| es-MX | Spanish (Mexico) | Trastornos de la hemoglobina cribado neonatal comentario / discusión: |
| fr-FR | French (France) | Troubles de l'hémoglobine dépistage néonatal (commentaire-discussion): |
| fr-BE | French (Belgium) | Hémoglobinopathies Commentaires.screening néonatal.discussion: Synonyms: Hb |
| it-IT | Italian (Italy) | Emoglobina, disturbi, screening neonatale, commenti-discussione: Synonyms: Chimica Commento/discussione di screeening neonatale per disturbi emoglobinici disturbi di emoglobina Punto nel tempo (episodio) Sangue Spot sangue secco Testo |
| nl-NL | Dutch (Netherlands) | hemoglobine-aandoeningen screening van pasgeborene commentaar-discussie: |
| pl-PL | Polish (Poland) | Hemoglobinopatie komentarz-dyskusja nad badaniami przesiewowymi noworodka: Synonyms: Badania przesiewowe noworodków w kierunku zaburzeń hemoglobiny komentarz-dyskusja |
| pt-BR | Portuguese (Brazil) | Hemoglobinopatias na triagem neonatal comentários-discussão: Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Гемоглобинозы новорожденный скрининг комментарий-дискуссия: Synonyms: Кровь Кровь сухая капля Описательный Текст Точка во времени; |
| tr-TR | Turkish (Turkey) | Hemoglobin bozuklukları yenidoğan tarama öneri-tartışma: |
| zh-CN | Chinese (China) | 血红蛋白病 新生儿筛查注释-讨论: Synonyms: Asympt SCN 全血斑点(滤纸); |
71592-0 Hemoglobinopathies conditions suspected [Identifier] in DBS
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Hemoglobinopathies conditions suspected
- Property
- Prid
- Time
- Pt
- System
- Bld.dot
- Scale
- Nom
- Method
Additional Names
- Short Name
- Hemoglobinopathies suspected DBS
- Display Name
- Hemoglobinopathies conditions suspected Nom (DBS)
- Consumer Name Alpha Get Info
- Hemoglobinopathies conditions suspected, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.40
- Last Updated
- Version 2.61
- Change Reason
- Changed answer list from "Normative" to "Example" to fit the current LOINC model.
- Order vs. Observation
- Observation
Example Answer List LL2094-2
| Answer | Code | Score | Answer ID |
|---|---|---|---|
| None Copyright http://snomed.info/sct ID:260413007 None (qualifier value) | LA137-2 | ||
| Likely transfusion Copyright http://snomed.info/sct ID:10593005 Posttransfusion state (finding) | LA18557-1 | ||
| Hb SS-disease (sickle cell anemia) Copyright http://snomed.info/sct ID:127040003 Sickle cell-hemoglobin SS disease (disorder) | LA12614-6 | ||
| Hb S (sickle)-carrier Copyright http://snomed.info/sct ID:16402000 Sickle cell trait (disorder) | LA12606-2 | ||
| Hb S beta plus thalassemia Copyright http://snomed.info/sct ID:127042006 Sickle cell beta plus thalassemia (disorder) | LA18558-9 | ||
| Hb S beta zero thalassemia Copyright http://snomed.info/sct ID:127043001 Sickle cell-beta^0^-thalassemia (disorder) | LA18559-7 | ||
| Hb S beta-thalassemia Copyright http://snomed.info/sct ID:127041004 Sickle cell-beta-thalassemia (disorder) | LA12615-3 | ||
| Hb SC-disease Copyright http://snomed.info/sct ID:35434009 Sickle cell-hemoglobin C disease (disorder) | LA12616-1 | ||
| Hb SD-disease Copyright http://snomed.info/sct ID:25472008 Sickle cell-hemoglobin D disease (disorder) | LA12617-9 | ||
| Hb SE-disease Copyright http://snomed.info/sct ID:47024008 Sickle cell-hemoglobin E disease (disorder) | LA12618-7 | ||
| Hb S,O-Arab | LA13012-2 | ||
| Hb S variant | LA18560-5 | ||
| Hb S/Hereditary persistence of fetal hemoglobin Copyright http://snomed.info/sct ID:234391009 Sickle cell anemia with high hemoglobin F (disorder) | LA18561-3 | ||
| Homozygous Hereditary persistence of fetal hemoglobin Copyright http://snomed.info/sct ID:191201002 Hereditary persistence of fetal hemoglobin (disorder) | LA18562-1 | ||
| Beta plus thalassemia Copyright http://snomed.info/sct ID:79592006 Beta plus thalassemia (disorder) | LA18563-9 | ||
| Hb beta zero-thalassemia Copyright http://snomed.info/sct ID:86715000 Beta zero thalassemia (disorder) | LA12611-2 | ||
| Beta thalassemia Copyright http://snomed.info/sct ID:65959000 beta Thalassemia (disorder) | LA18564-7 | ||
| Hb C-disease Copyright http://snomed.info/sct ID:51053007 Hemoglobin C disease (disorder) | LA12607-0 | ||
| Hb C-carrier Copyright http://snomed.info/sct ID:76050008 Hemoglobin C trait (disorder) | LA12602-1 | ||
| Hb C beta plus thalassemia Copyright http://snomed.info/sct ID:119691000119106 Hemoglobin C/beta thalassemia disease (disorder) | LA18565-4 | ||
| Hb C beta zero thalassemia Copyright http://snomed.info/sct ID:119691000119106 Hemoglobin C/beta thalassemia disease (disorder) | LA18566-2 | ||
| Hb C beta-thalassemia Copyright http://snomed.info/sct ID:119691000119106 Hemoglobin C/beta thalassemia disease (disorder) | LA12608-8 | ||
| Hb Constant Spring carrier | LA19957-2 | ||
| Hb D-disease | LA12609-6 | ||
| Hb D-carrier Copyright http://snomed.info/sct ID:7391009 Hemoglobin D trait (disorder) | LA12603-9 | ||
| Hb D beta plus thalassemia | LA18567-0 | ||
| Hb D beta zero thalassemia | LA18568-8 | ||
| Hb D beta-thalassemia Copyright http://snomed.info/sct ID:119701000119106 Hemoglobin D/beta thalassemia disease (disorder) | LA12610-4 | ||
| Hb E-disease Copyright http://snomed.info/sct ID:25065001 Hemoglobin E disease (disorder) | LA12612-0 | ||
| Hb E-carrier Copyright http://snomed.info/sct ID:46248003 Hemoglobin E trait (disorder) | LA12604-7 | ||
| Hb E beta plus thalassemia Copyright http://snomed.info/sct ID:234392002 Hemoglobin E/beta thalassemia disease (disorder) | LA18569-6 | ||
| Hb E beta zero thalassemia Copyright http://snomed.info/sct ID:234392002 Hemoglobin E/beta thalassemia disease (disorder) | LA18570-4 | ||
| Hb E delta beta thalassemia Copyright http://snomed.info/sct ID:234392002 Hemoglobin E/beta thalassemia disease (disorder) | LA18571-2 | ||
| Hb E beta-thalassemia Copyright http://snomed.info/sct ID:234392002 Hemoglobin E/beta thalassemia disease (disorder) | LA12613-8 | ||
| Hb G disease | LA18572-0 | ||
| Hb G carrier | LA18573-8 | ||
| Hb G beta plus thalassemia | LA18574-6 | ||
| Hb G beta thalassemia | LA18575-3 | ||
| Hb G beta zero thalassemia | LA18576-1 | ||
| Hb D/G disease | LA18577-9 | ||
| Hb D/G carrier | LA18578-7 | ||
| Hb D/G beta plus thalassemia | LA18579-5 | ||
| Hb D/G beta thalassemia | LA18580-3 | ||
| Hb D/G beta zero thalassemia | LA18581-1 | ||
| Hb O-Arab carrier | LA12605-4 | ||
| Alpha thalassemia major Copyright http://snomed.info/sct ID:5300004 Hemoglobin Bart's hydrops syndrome (disorder) | LA18582-9 | ||
| Alpha thalassemia trait Copyright http://snomed.info/sct ID:191187006 Alpha trait thalassemia (disorder) | LA18583-7 | ||
| Hb H disease Copyright http://snomed.info/sct ID:48553001 Hemoglobin H disease (disorder) | LA18584-5 | ||
| Hb H Constant Spring disease Copyright http://snomed.info/sct ID:447117006 Hemoglobin H constant spring thalassemia (disorder) | LA18585-2 | ||
| Hb H with other variant point mutations | LA18586-0 | ||
| Other Hb disease Copyright http://snomed.info/sct ID:123772008 Homozygous hemoglobinopathy (disorder) | LA18587-8 | ||
| Other Hb carrier | LA18588-6 | ||
| Other beta plus thalassemia | LA18589-4 | ||
| Other beta zero thalassemia | LA18590-2 | ||
| Other beta thalassemia | LA18591-0 |
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54081-5 | Hemoglobinopathies newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Condiciones de susceptibilidad de hemoglobinopatías: |
| es-MX | Spanish (Mexico) | Sospecha de condiciones de hemoglobinopatías: |
| fr-FR | French (France) | Hémoglobinopathies conditions suspectées: |
| it-IT | Italian (Italy) | Emoglobinopatie, condizioni sospette: Synonyms: Chimica Presenza o Identità Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | hemoglobinopathie-aandoeningen vermoed: Synonyms: hemoglobinopathie aandoeningen vermoed |
| pl-PL | Polish (Poland) | Podejrzenie hemoglobinopatii: |
| pt-BR | Portuguese (Brazil) | Hemoglobinopatias condições suspeitas: |
| ru-RU | Russian (Russian Federation) | Гемоглобинопатии состояние заподозренное: Synonyms: Кровь Кровь сухая капля Номинальный; |
| tr-TR | Turkish (Turkey) | Hemoglobinopati durumları süphelenilen: |
| zh-CN | Chinese (China) | 所怀疑的血红蛋白病: Synonyms: 全血斑点(滤纸); |
Third Party Copyright
This material includes SNOMED Clinical Terms® (SNOMED CT®) which is used by permission of the International Health Terminology Standards Development Organisation (IHTSDO) under license. All rights reserved. SNOMED CT® was originally created by The College of American Pathologists. "SNOMED" and "SNOMED CT" are registered trademarks of the IHTSDO.
This material includes content from the US Edition to SNOMED CT, which is developed and maintained by the U.S. National Library of Medicine and is available to authorized UMLS Metathesaurus Licensees from the UTS Downloads site at https://uts.nlm.nih.gov.
Use of SNOMED CT content is subject to the terms and conditions set forth in the SNOMED CT Affiliate License Agreement. It is the responsibility of those implementing this product to ensure they are appropriately licensed and for more information on the license, including how to register as an Affiliate Licensee, please refer to http://www.snomed.org/snomed-ct/get-snomed-ct or info@snomed.org<mailto:info@snomed.org>. This may incur a fee in SNOMED International non-Member countries.
54072-4 Hemoglobin A/Hemoglobin.total in DBS
Part Descriptions
LP14554-7 Hemoglobin A
Normal adult human hemoglobin. The globin moiety consists of two alpha and two beta chains.
Source: National Library of Medicine, MeSH 2006
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Hemoglobin A/Hemoglobin.total
- Property
- MFr
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- Hgb A MFr DBS
- Display Name
- Hemoglobin A (DBS) [Mass fraction]
- Consumer Name Alpha Get Info
- Hemoglobin A/Total Hgb, Dried blood spot
Basic Attributes
- Class
- HEM/BC
- Type
- Laboratory
- First Released
- Version 2.26
- Last Updated
- Version 2.61
- Order vs. Observation
- Observation
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54081-5 | Hemoglobinopathies newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| de-DE | German (Germany) | Hämoglobin A/Hämoglobin.gesamt: |
| es-ES | Spanish (Spain) | Hemoglobina A/Hemoglobina.total: Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Hemoglobina A / Hemoglobina total: |
| et-EE | Estonian (Estonia) | Hemoglobiin A/hemoglobiin.üld: Synonyms: Juhuslik Kvantitatiivne Veri |
| fr-CA | French (Canada) | Hémoglobine A/Hémoglobine.totale: |
| fr-FR | French (France) | Hémoglobine A/hémoglobine totale: |
| fr-BE | French (Belgium) | Hémoglobine A/Hémoglobine.totale: Synonyms: Hb Hb A Hb.totale |
| it-IT | Italian (Italy) | Emoglobina A/Emoglobina.totale: Synonyms: Ematologia (coagulazione) conta differenziale Frazione di massa Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | hemoglobine A/hemoglobine.totaal: |
| pl-PL | Polish (Poland) | Hemoglobina A/hemoglobina całkowita: Synonyms: Hemoglobina A/Hemoglobina całkowita |
| pt-BR | Portuguese (Brazil) | Hemoglobina A/Hemoglobina.total: Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Гемоглобин А/Гемоглобин.общий: Synonyms: Количественный Кровь Кровь сухая капля Массовая доля Точка во времени; |
| tr-TR | Turkish (Turkey) | Hemoglobin A/Hemoglobin.total: |
| zh-CN | Chinese (China) | 血红蛋白 A/血红蛋白.总计: Synonyms: A 型 HbA; |
Example Units
| Unit | Source |
|---|---|
| % | Example UCUM Units |
54069-0 Hemoglobin Barts/Hemoglobin.total in DBS
Part Descriptions
LP16418-3 Hemoglobin Barts
Hemoglobin Barts is a relatively common hemoglobin variant consisting of four gamma chains. Hemoglobin Barts is an extremely high affinity hemoglobin that is not effective at delivering oxygen to tissues. Hemoglobin Barts is only seen during the newborn period and usually indicates that one or more of the baby's alpha-globin genes are deleted, resulting in alpha-thalassemia. Alpha thalassemia is caused by deletions of the alpha globin genes on chromosome 16. Normal patients have four copies of the alpha-globin gene, 2 on each chromosome. A silent carrier will have one deleted alpha gene and usually result in a benign condition. Alpha thalassmia trait occurs when there are two deleted alpha genes, resulting in mild or no anemia with microcytosis and hypochromia. Hemoglobin H disease results from the deletion of three alpha genes with resultant moderately severe alpha thalassemia. Most patients are anemic and display some degree of splenomegaly. Fetal hydrops syndrome occurs when all four alpha genes are deleted. Fetal hydrops is not compatible with life and death occurs in utero or during early infancy.Carrier states for alpha thalassemia are very common in the African, Meditteranean and Asian populations. In general, only the loss of one or two genes is seen in African Americans. Asian and Meditteranean populations may have all types of alpha thalassemia. Information from The Georgia Comphensive Sickle Cell Center at Grady Health System, Emory University School of Medicine Department of Pediatrics, Atlanta, GA at www.scinfo.org, accessed 2007 11 02, and The Utah Department of Health at www.health.utah.gov, accessed 2007 11 02.
Source: Regenstrief Institute
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Hemoglobin Barts/Hemoglobin.total
- Property
- MFr
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- Hgb Barts MFr DBS
- Display Name
- Hemoglobin Barts (DBS) [Mass fraction]
- Consumer Name Alpha Get Info
- Hemoglobin barts/Total Hgb, Dried blood spot
Basic Attributes
- Class
- HEM/BC
- Type
- Laboratory
- First Released
- Version 2.26
- Last Updated
- Version 2.61
- Order vs. Observation
- Observation
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54081-5 | Hemoglobinopathies newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Hemoglobina Barts/Hemoglobina.total: Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Barts de hemoglobina / hemoglobina total: |
| fr-CA | French (Canada) | Hémoglobine Bart/Hémoglobine.totale: |
| fr-FR | French (France) | Hémoglobine Barts/hémoglobine totale: |
| fr-BE | French (Belgium) | Hémoglobine Bart/Hémoglobine.totale: Synonyms: Hb Hb Bart Hb.totale |
| it-IT | Italian (Italy) | Emoglobina Bart/Emoglobina.totale: Synonyms: Ematologia (coagulazione) conta differenziale Emoglobina di Bart Frazione di massa Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | hemoglobine Barts/hemoglobine.totaal: |
| pl-PL | Polish (Poland) | Hemoglobina Barts/hemoglobina całkowita: Synonyms: Hemoglobina Barta/Hemoglobina całkowita |
| pt-BR | Portuguese (Brazil) | Hemoglobina Barts/Hemoglobina.total: Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Гемоглобин Barts/Гемоглобин.общий: Synonyms: Количественный Кровь Кровь сухая капля Массовая доля Точка во времени; |
| tr-TR | Turkish (Turkey) | Hemoglobin Barts/Hemoglobin.total: |
| zh-CN | Chinese (China) | 血红蛋白 Barts/血红蛋白.总计: Synonyms: Bart Bart's Hgb Barts MFr 全体数量 全血斑点(滤纸); |
Example Units
| Unit | Source |
|---|---|
| % | Example UCUM Units |
54073-2 Hemoglobin C/Hemoglobin.total in DBS
Part Descriptions
LP16420-9 Hemoglobin C
A commonly occurring abnormal hemoglobin in which lysine replaces a glutamic acid residue at the sixth position of the beta chains. It results in reduced plasticity of erythrocytes.
Source: National Library of Medicine, MeSH 2006
LP16420-9 Hemoglobin C
Hemoglobin C (abbreviated as Hb C or HbC) is an abnormal hemoglobin with substitution of a glutamic acid residue for a lysine residue at the 6th position of the β-globin chain.
This mutated form reduces the normal plasticity of host erythrocytes causing a hemoglobinopathy. In those who are heterozygous for the mutation, about 28-44% of total hemoglobin (Hb) is HbC, and no anemia develops. In homozygotes, nearly all Hb is in the HbC form, resulting in mild hemolytic anemia.
Target cells, microspherocytes and HbC crystals are found in a blood smear from a homozygous patient.
Copyright Text is available under the Creative Commons Attribution/Share-Alike License. See http://creativecommons.org/licenses/by-sa/3.0/ for details.
Source: Wikipedia, Wikipedia
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Hemoglobin C/Hemoglobin.total
- Property
- MFr
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- Hgb C MFr DBS
- Display Name
- Hemoglobin C (DBS) [Mass fraction]
- Consumer Name Alpha Get Info
- Hemoglobin C/Total Hgb, Dried blood spot
Basic Attributes
- Class
- HEM/BC
- Type
- Laboratory
- First Released
- Version 2.26
- Last Updated
- Version 2.61
- Order vs. Observation
- Observation
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54081-5 | Hemoglobinopathies newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| de-DE | German (Germany) | Hämoglobin C/Hämoglobin.gesamt: |
| es-ES | Spanish (Spain) | Hemoglobina C/Hemoglobina.total: Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Hemoglobina C / Hemoglobina total: |
| et-EE | Estonian (Estonia) | Hemoglobiin C/hemoglobiin.üld: Synonyms: Juhuslik Kvantitatiivne Veri |
| fr-CA | French (Canada) | Hémoglobine C/Hémoglobine.totale: |
| fr-FR | French (France) | Hémoglobine C/hémoglobine totale: |
| fr-BE | French (Belgium) | Hémoglobine C/Hémoglobine.totale: Synonyms: Hb Hb.totale HbC |
| it-IT | Italian (Italy) | Emoglobina C/Emoglobina.totale: Synonyms: Ematologia (coagulazione) conta differenziale Frazione di massa Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | hemoglobine C/hemoglobine.totaal: |
| pl-PL | Polish (Poland) | Hemoglobina C/hemoglobina całkowita: Synonyms: Hemoglobina C/Hemoglobina całkowita |
| pt-BR | Portuguese (Brazil) | Hemoglobina C/Hemoglobina.total: Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Гемоглобин С/Гемоглобин.общий: Synonyms: Количественный Кровь Кровь сухая капля Массовая доля Точка во времени; |
| tr-TR | Turkish (Turkey) | Hemoglobin C/Hemoglobin.total: |
| zh-CN | Chinese (China) | 血红蛋白 C/血红蛋白.总计: Synonyms: C 型; |
Example Units
| Unit | Source |
|---|---|
| % | Example UCUM Units |
54070-8 Hemoglobin D/Hemoglobin.total in DBS
Part Descriptions
LP16424-1 Hemoglobin D
Hemoglobin D (HbD) is a common hemoglobin variant that occurs primarily in north-west India, Pakistan and Iran. Hemoglobin D disease occurs when an individual inherits two copies of the HbD gene. It is a rare and relatively mild disease associated with mild anemia. HbD levels can be detected electrophoretically and compared to the total hemoglobin. HbD Punjab, also known as HbD-Los Angeles, is the most common variant among the HbD variants. Hemoglobins exhibit different migration patterns in alkaline versus acidic electrophoresis conditions. So a combination of 2 procedures can be used in tandem to identify the hemoglobin variants.
Source: Regenstrief LOINC
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Hemoglobin D/Hemoglobin.total
- Property
- MFr
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- Hgb D MFr DBS
- Display Name
- Hemoglobin D (DBS) [Mass fraction]
- Consumer Name Alpha Get Info
- Hemoglobin D/Total Hgb, Dried blood spot
Basic Attributes
- Class
- HEM/BC
- Type
- Laboratory
- First Released
- Version 2.26
- Last Updated
- Version 2.61
- Order vs. Observation
- Observation
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54081-5 | Hemoglobinopathies newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| de-DE | German (Germany) | Hämoglobin D/Hämoglobin.gesamt: |
| es-ES | Spanish (Spain) | Hemoglobina D/Hemoglobina.total: Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Hemoglobina D / Hemoglobina total: |
| et-EE | Estonian (Estonia) | Hemoglobiin D/hemoglobiin.üld: Synonyms: Juhuslik Kvantitatiivne Veri |
| fr-CA | French (Canada) | Hémoglobine D/Hémoglobine.totale: |
| fr-FR | French (France) | Hémoglobine D/hémoglobine totale: |
| fr-BE | French (Belgium) | Hémoglobine D/Hémoglobine.totale: Synonyms: Hb Hb.totale HbD |
| it-IT | Italian (Italy) | Emoglobina D/Emoglobina.totale: Synonyms: Ematologia (coagulazione) conta differenziale Frazione di massa Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | hemoglobine D/hemoglobine.totaal: |
| pl-PL | Polish (Poland) | Hemoglobina D/hemoglobina całkowita: Synonyms: Hemoglobina D/Hemoglobina całkowita |
| pt-BR | Portuguese (Brazil) | Hemoglobina D/Hemoglobina.total: Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Гемоглобин D/Гемоглобин.общий: Synonyms: Количественный Кровь Кровь сухая капля Массовая доля Точка во времени; |
| tr-TR | Turkish (Turkey) | Hemoglobin D/Hemoglobin.total: |
| zh-CN | Chinese (China) | 血红蛋白 D/血红蛋白.总计: Synonyms: Hgb D MFr Rh; |
Example Units
| Unit | Source |
|---|---|
| % | Example UCUM Units |
54071-6 Hemoglobin E/Hemoglobin.total in DBS
Part Descriptions
LP16427-4 Hemoglobin E
An abnormal hemoglobin that results from the substitution of lysine for glutamic acid at position 26 of the beta chain. It is most frequently observed in southeast Asian populations.
Source: National Library of Medicine, MeSH 2006
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Hemoglobin E/Hemoglobin.total
- Property
- MFr
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- Hgb E MFr DBS
- Display Name
- Hemoglobin E (DBS) [Mass fraction]
- Consumer Name Alpha Get Info
- Hemoglobin E/Total Hgb, Dried blood spot
Basic Attributes
- Class
- HEM/BC
- Type
- Laboratory
- First Released
- Version 2.26
- Last Updated
- Version 2.61
- Order vs. Observation
- Observation
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54081-5 | Hemoglobinopathies newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| de-DE | German (Germany) | Hämoglobin E/Hämoglobin.gesamt: |
| es-ES | Spanish (Spain) | Hemoglobina E/Hemoglobina.total: Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Hemoglobina E / Hemoglobina total: |
| et-EE | Estonian (Estonia) | Hemoglobiin E/hemoglobiin.üld: Synonyms: Juhuslik Kvantitatiivne Veri |
| fr-CA | French (Canada) | Hémoglobine E/Hémoglobine.totale: |
| fr-FR | French (France) | Hémoglobine E/hémoglobine totale: |
| fr-BE | French (Belgium) | Hémoglobine E/Hémoglobine.totale: Synonyms: Hb Hb.totale HbE |
| it-IT | Italian (Italy) | Emoglobina E/Emoglobina.totale: Synonyms: Ematologia (coagulazione) conta differenziale Frazione di massa Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | hemoglobine E/hemoglobine.totaal: |
| pl-PL | Polish (Poland) | Hemoglobina E/hemoglobina całkowita: Synonyms: Hemoglobina E/Hemoglobina całkowita |
| pt-BR | Portuguese (Brazil) | Hemoglobina E/Hemoglobina.total: Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Гемоглобин Е/Гемоглобин.общий: Synonyms: Количественный Кровь Кровь сухая капля Массовая доля Точка во времени; |
| tr-TR | Turkish (Turkey) | Hemoglobin E/Hemoglobin.total: |
| zh-CN | Chinese (China) | 血红蛋白 E/血红蛋白.总计: Synonyms: E 型 Hgb E MFr 全体数量 全血斑点(滤纸); |
Example Units
| Unit | Source |
|---|---|
| % | Example UCUM Units |
54074-0 Hemoglobin F/Hemoglobin.total in DBS
Part Descriptions
LP16428-2 Hemoglobin F
Hemoglobin F is used to screen for fetal-to-maternal hemorrrhage. The presence of fetal red cells in the maternal circulation may be identified by use of the acid elution principle first described by Kleihauer, Brown, and Betke, or by several modifications. Very small volumes of red cells commonly escape from the fetal intravascular compartment across the placental barrier into the maternal intervillous space.
Source: Regenstrief Institute
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Hemoglobin F/Hemoglobin.total
- Property
- MFr
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- Hgb F MFr DBS
- Display Name
- Hemoglobin F (DBS) [Mass fraction]
- Consumer Name Alpha Get Info
- Hemoglobin F/Total Hgb, Dried blood spot
Basic Attributes
- Class
- HEM/BC
- Type
- Laboratory
- First Released
- Version 2.26
- Last Updated
- Version 2.61
- Order vs. Observation
- Observation
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54081-5 | Hemoglobinopathies newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| de-DE | German (Germany) | Hämoglobin F/Hämoglobin.gesamt: |
| es-ES | Spanish (Spain) | Hemoglobina fetal/Hemoglobina.total: Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Hemoglobina F / Hemoglobina total: |
| et-EE | Estonian (Estonia) | Hemoglobiin F/hemoglobiin.üld: Synonyms: Juhuslik Kvantitatiivne Veri |
| fr-CA | French (Canada) | Hémoglobine F/Hémoglobine.totale: |
| fr-FR | French (France) | Hémoglobine F/hémoglobine totale: |
| fr-BE | French (Belgium) | Hémoglobine F/Hémoglobine.totale: Synonyms: Hb Hb.totale HbF |
| it-IT | Italian (Italy) | Emoglobina F/Emoglobina.totale: Synonyms: Ematologia (coagulazione) conta differenziale Frazione di massa Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | hemoglobine F/hemoglobine.totaal: |
| pl-PL | Polish (Poland) | Hemoglobina F/hemoglobina całkowita: Synonyms: Hemoglobina F/Hemoglobina całkowita |
| pt-BR | Portuguese (Brazil) | Hemoglobina F/Hemoglobina.total: Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Гемоглобин F/Гемоглобин.общий: Synonyms: Количественный Кровь Кровь сухая капля Массовая доля Точка во времени; |
| tr-TR | Turkish (Turkey) | Hemoglobin F/Hemoglobin.total: |
| zh-CN | Chinese (China) | 血红蛋白 F/血红蛋白.总计: Synonyms: HbF; |
Example Units
| Unit | Source |
|---|---|
| % | Example UCUM Units |
54068-2 Hemoglobin O - Arab/Hemoglobin.total in DBS
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Hemoglobin O-Arab/Hemoglobin.total
- Property
- MFr
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- Hgb O-Arab MFr DBS
- Display Name
- Hemoglobin O - Arab (DBS) [Mass fraction]
- Consumer Name Alpha Get Info
- Hemoglobin O - Arab/Total Hgb, Dried blood spot
Basic Attributes
- Class
- HEM/BC
- Type
- Laboratory
- First Released
- Version 2.26
- Last Updated
- Version 2.61
- Order vs. Observation
- Observation
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54081-5 | Hemoglobinopathies newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Hemoglobina O - Arab/Hemoglobina.total: Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Hemoglobina O-Arab / Hemoglobina total: |
| fr-CA | French (Canada) | Hémoglobine O-Arab/Hémoglobine.totale: |
| fr-FR | French (France) | Hémoglobine O-Arab/hémoglobine totale: |
| fr-BE | French (Belgium) | Hémoglobine O-Arab/Hémoglobine.totale: Synonyms: Hb Hb O -Arab Hb.totale |
| it-IT | Italian (Italy) | Emoglobina O-Arab/Emoglobina.totale: Synonyms: Ematologia (coagulazione) conta differenziale Emoglobina O - Arab Frazione di massa Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | hemoglobine O-Arab/hemoglobine.totaal: |
| pl-PL | Polish (Poland) | Hemoglobina O-Arab/hemoglobina całkowita: Synonyms: Hemoglobina O-Arab/Hemoglobina całkowita |
| pt-BR | Portuguese (Brazil) | Hemoglobina O-Arab/Hemoglobina.total: Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Гемоглобин О-Arab/Гемоглобин.общий: Synonyms: Количественный Кровь Кровь сухая капля Массовая доля Точка во времени; |
| tr-TR | Turkish (Turkey) | Hemoglobin O-Arab/Hemoglobin.total: |
| zh-CN | Chinese (China) | 血红蛋白 O-Arab/血红蛋白.总计: Synonyms: Hgb O-Arab MFr 全体数量 全血斑点(滤纸); |
Example Units
| Unit | Source |
|---|---|
| % | Example UCUM Units |
56476-5 Hemoglobin S/Hemoglobin.total in DBS
Part Descriptions
LP16455-5 Hemoglobin S
Hemoglobin S (HbS) is a variant form of hemoglobin found in people with sickle cell disease. The Hb S variant occurs primarily among people of African, Hispanic, and Mediterranean descent. Hb S has a variation in the β-chain gene that causes a change in the properties of hemoglobin, resulting in abnormal, rigid, sickling shape of red blood cells. Individuals with two copies of the Hb S variant have classic sickle cell disease (sickle cell anemia, HbSS). Individuals with one HbS variant and one normal hemoglobin, Hb A, have sickle cell trait (HbAS) and usually have no associated symptoms. Hemoglobins exhibit different migration patterns in alkaline versus acidic electrophoresis conditions. So a combination of 2 procedures can be used in tandem to identify the hemoglobin variants.
Source: Regenstrief LOINC, Sickle-cell disease (Wikipedia)
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Hemoglobin S/Hemoglobin.total
- Property
- MFr
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- Hgb S MFr DBS
- Display Name
- Hemoglobin S (DBS) [Mass fraction]
- Consumer Name Alpha Get Info
- Hemoglobin S/Total Hgb, Dried blood spot
Basic Attributes
- Class
- HEM/BC
- Type
- Laboratory
- First Released
- Version 2.29
- Last Updated
- Version 2.61
- Order vs. Observation
- Observation
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54081-5 | Hemoglobinopathies newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| de-DE | German (Germany) | Hämoglobin S/Hämoglobin.gesamt: |
| es-ES | Spanish (Spain) | Hemoglobina S/Hemoglobina.total: Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Hemoglobina S / Hemoglobina total: |
| et-EE | Estonian (Estonia) | Hemoglobiin S/hemoglobiin.üld: Synonyms: Juhuslik Kvantitatiivne Veri |
| fr-CA | French (Canada) | Hémoglobine S/Hémoglobine.totale: |
| fr-FR | French (France) | Hémoglobine S/hémoglobine totale: |
| fr-BE | French (Belgium) | Hémoglobine S/Hémoglobine.totale: Synonyms: Hb Hb.totale HbS |
| it-IT | Italian (Italy) | Emoglobina S/Emoglobina.totale: Synonyms: Ematologia (coagulazione) conta differenziale Frazione di massa Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | hemoglobine S/hemoglobine.totaal: |
| pl-PL | Polish (Poland) | Hemoglobina S/hemoglobina całkowita: Synonyms: Hemoglobina S/Hemoglobina całkowita |
| pt-BR | Portuguese (Brazil) | Hemoglobina S/Hemoglobina.total: Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Гемоглобин S/Гемоглобин.общий: Synonyms: Количественный Кровь Кровь сухая капля Массовая доля Точка во времени; |
| tr-TR | Turkish (Turkey) | Hemoglobin S/Hemoglobin.total: |
| zh-CN | Chinese (China) | 血红蛋白 S/血红蛋白.总计: Synonyms: HbS; |
Example Units
| Unit | Source |
|---|---|
| % | Example UCUM Units |
54082-3 Infectious diseases newborn screening panel
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Infectious diseases newborn screening panel
- Property
- -
- Time
- Pt
- System
- Bld.dot
- Scale
- -
- Method
Additional Names
- Short Name
- NB pnl Infectious diseases DBS
- Display Name
- Infectious diseases NBS panel (DBS)
- Consumer Name Alpha Get Info
- Infectious diseases NBS panel, Dried blood spot
Basic Attributes
- Class
- PANEL.MICRO
- Type
- Laboratory
- First Released
- Version 2.26
- Last Updated
- Version 2.77
- Order vs. Observation
- Order
- Panel Type
- Panel
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Panel de cribado neonatal de enfermedades infecciosas: |
| es-MX | Spanish (Mexico) | Panel de cribado neonatal de enfermedades infecciosas: |
| fr-FR | French (France) | Maladies infectieuses dépistage néonatal panel: |
| fr-BE | French (Belgium) | Panel screening nouveau-né maladies infectieuses: |
| it-IT | Italian (Italy) | Malattie infettive, panel screening neonatale: Synonyms: Microbiologia Panel screening neonatale Panel screening neonatale per malattie infettive Punto nel tempo (episodio) Sangue Set di prescrizione microbiologia Spot sangue secco |
| nl-NL | Dutch (Netherlands) | besmettelijke ziekten pasgeborene screening panel: |
| pt-BR | Portuguese (Brazil) | Recém nascido triagem doenças infecciosas painel: Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Инфекционные болезни новорождённый скрининг панель: Synonyms: Кровь Кровь сухая капля Точка во времени; |
| zh-CN | Chinese (China) | 传染病新生儿筛查组套: Synonyms: Asympt SCN 传染性疾病类; |
57702-3 Infectious diseases newborn screen interpretation
Observation Required in Panel
Required
Fully-Specified Name
- Component
- Infectious diseases
- Property
- Imp
- Time
- Pt
- System
- Bld.dot
- Scale
- Nom
- Method
Additional Names
- Short Name
- Infectious diseases DBS-Imp
- Display Name
- Infectious diseases (DBS) [Interp]
- Consumer Name Alpha Get Info
- Infectious diseases, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.29
- Last Updated
- Version 2.56
- Change Reason
- Changed answer list from "Normative" to "Preferred" to fit the current LOINC model.
- Order vs. Observation
- Observation
Preferred Answer List LL833-5
| Answer | Code | Score | Answer ID |
|---|---|---|---|
| Normal Copyright http://snomed.info/sct ID:17621005 Normal (qualifier value) | LA6626-1 | ||
| Borderline | LA4259-3 | ||
| Suspect HIV | LA12446-3 | ||
| Suspect TOXO | LA12447-1 |
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54082-3 | Infectious diseases newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Enfermedades infecciosas: |
| es-MX | Spanish (Mexico) | Enfermedades infecciosas: |
| fr-FR | French (France) | Maladies infectieuses: |
| fr-BE | French (Belgium) | Maladies infectieuses: |
| it-IT | Italian (Italy) | Malattie infettive: Synonyms: Chimica Impressione/interpretazione di studio Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | besmettelijke ziekten: |
| pt-BR | Portuguese (Brazil) | Doenças infecciosas: Synonyms: Interpretation; |
| ru-RU | Russian (Russian Federation) | Инфекционные болезни: Synonyms: Впечатление/интерпретация исследования Кровь Кровь сухая капля Номинальный; |
| tr-TR | Turkish (Turkey) | Enfeksiyöz hastalıklar: |
| zh-CN | Chinese (China) | 传染病类: Synonyms: 传染性疾病类; |
Third Party Copyright
This material includes SNOMED Clinical Terms® (SNOMED CT®) which is used by permission of the International Health Terminology Standards Development Organisation (IHTSDO) under license. All rights reserved. SNOMED CT® was originally created by The College of American Pathologists. "SNOMED" and "SNOMED CT" are registered trademarks of the IHTSDO.
This material includes content from the US Edition to SNOMED CT, which is developed and maintained by the U.S. National Library of Medicine and is available to authorized UMLS Metathesaurus Licensees from the UTS Downloads site at https://uts.nlm.nih.gov.
Use of SNOMED CT content is subject to the terms and conditions set forth in the SNOMED CT Affiliate License Agreement. It is the responsibility of those implementing this product to ensure they are appropriately licensed and for more information on the license, including how to register as an Affiliate Licensee, please refer to http://www.snomed.org/snomed-ct/get-snomed-ct or info@snomed.org<mailto:info@snomed.org>. This may incur a fee in SNOMED International non-Member countries.
57701-5 Infectious diseases newborn screening comment-discussion
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Infectious diseases newborn screening comment-discussion
- Property
- Txt
- Time
- Pt
- System
- Bld.dot
- Scale
- Nar
- Method
Additional Names
- Short Name
- Infectious diseases NBS comment
- Display Name
- Infectious diseases newborn screening comment-discussion Nar (DBS)
- Consumer Name Alpha Get Info
- Infectious diseases newborn screening comment-discussion, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.29
- Last Updated
- Version 2.42
- Order vs. Observation
- Observation
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54082-3 | Infectious diseases newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Enfermedades infecciosas screnning de recién nacidos comentario-discusión: |
| es-MX | Spanish (Mexico) | Comentario / discusión sobre enfermedades infecciosas de detección de recién nacidos: |
| fr-FR | French (France) | Maladies infectieuses dépistage néonatal (commentaire-discussion): |
| fr-BE | French (Belgium) | Maladies infectieuses Commentaires.screening néonatal.discussion: |
| it-IT | Italian (Italy) | Malattie infettive, screening neonatale, commenti-discussione: Synonyms: Chimica Commento/discussione di screening neonatale per malattie infettive Punto nel tempo (episodio) Sangue Spot sangue secco Testo |
| nl-NL | Dutch (Netherlands) | besmettelijke ziekten screening van pasgeborene commentaar-discussie: |
| pt-BR | Portuguese (Brazil) | Doenças infecciosas na triagem neonatal comentários-discussão: Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Инфекционные болезни новорожденный скрининг комментарий-дискуссия: Synonyms: Кровь Кровь сухая капля Описательный Текст Точка во времени; |
| tr-TR | Turkish (Turkey) | Enfeksiyöz hastalıklar yenidoğan tarama öneri-tartışma: |
| zh-CN | Chinese (China) | 传染病类 新生儿筛查注释-讨论: Synonyms: Asympt SCN 传染性疾病类; |
54086-4 HIV 1+2 IgG Ab [Presence] in DBS
Part Descriptions
LP16715-2 HIV 1+2
Two types of human immunodeficiency viruses (HIV) have been characterized: HIV-1 and HIV-2. HIV-1 was initially discovered in the early 1980s and thought to be the sole causative agent of HIV infections and ultimately AIDS. In 1986, HIV-2 was isolated and also found to cause AIDs. HIV-1 is more virulent and the predominant cause of the HIV infections worldwide. HIV-2 is poorly transmitted and is primarily concentrated in West Africa.
Presently (2012), HIV-1 strains are divided into four groups, including group M (major) with subtypes A through K, group O (outlier), group N (non-M or O), and group P. HIV-2 is divided into subtypes A through E. Occasionally, two viruses of different subtypes can "cross react" and blend their genetic material to create a new hybrid HIV virus. However, many of these new strains do not survive for long. Studies have also shown that the core proteins of HIV-1 and HIV-2 display frequent cross-reactivity whereas the envelope proteins are more type-specific.
Source: Regenstrief LOINC
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- HIV 1+2 Ab.IgG
- Property
- PrThr
- Time
- Pt
- System
- Bld.dot
- Scale
- Ord
- Method
Additional Names
- Short Name
- HIV1+2 IgG DBS Ql
- Display Name
- HIV 1+2 IgG Ql (DBS)
- Consumer Name Alpha Get Info
- HIV 1+2 IgG antibody, Dried blood spot
Basic Attributes
- Class
- MICRO
- Type
- Laboratory
- First Released
- Version 2.26
- Last Updated
- Version 2.61
- Change Reason
- The PrThr property is used for LOINC terms whose results are reported using an ordered categorical scale, regardless of whether or not an internal threshold was used to make that determination. This change was approved by the Laboratory LOINC Committee in June 2016.
- Order vs. Observation
- Both
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 75622-1 | HIV 1 and 2 tests - Meaningful Use set |
| 54082-3 | Infectious diseases newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | VIH 1-2 IgG: |
| es-MX | Spanish (Mexico) | VIH 1 + 2 Ab.IgG: |
| et-EE | Estonian (Estonia) | HIV 1+2 antikehad.IgG: Synonyms: Immuunglobuliin G Inimese immuunpuudulikkuse viirus Inimese immuunpuudulikkuse viiruse 1. ja 2 tüüp Järgarvuline Juhuslik Veri |
| fr-CA | French (Canada) | VIH 1+2, IgG: |
| fr-FR | French (France) | VIH-1+2 Ac IgG: |
| fr-BE | French (Belgium) | VIH 1+2 Anticorps. IgG: Synonyms: Anticorps HIV HIV 1 HIV 1& |
| it-IT | Italian (Italy) | HIV 1+2 Ab.IgG: Synonyms: anticorpi IgG anticorpo Microbiologia Presenza o Soglia Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | HIV 1+2 As.IgG: Synonyms: antistof; |
| pl-PL | Polish (Poland) | HIV 1+2 Ab.IgG: Synonyms: IgG Ludzki wirus niedoboru odporności typu 1 Ludzki wirus niedoboru odporności typu 1 i 2 Ludzki wirus niedoboru odporności typu 1+2 Przeciwciała do HIV 1 i 2 Przeciwciała do HIV 1+2 Przeciwciała IgG do HIV 1 i 2 Przeciwciała IgG do HIV 1+2 |
| pt-BR | Portuguese (Brazil) | HIV 1+2 Ac.IgG: Synonyms: Immune globulin G; |
| ru-RU | Russian (Russian Federation) | HIV 1+2 Ат.IgG: Synonyms: Антитело ВИЧ ВИЧ 1 ВИЧ 1 и 2 ВИЧ 1+2 Кровь Кровь сухая капля Порядковый Точка во времени; |
| tr-TR | Turkish (Turkey) | HIV 1+2 Ab.IgG: Synonyms: Ak Ak.IgG Mevcut |
| zh-CN | Chinese (China) | HIV 1 型+2 型 抗体.IgG: Synonyms: Ⅰ Ⅱ Ab.IgG; |
54087-2 Toxoplasma gondii IgG Ab [Presence] in DBS
Part Descriptions
LP14252-8 Toxoplasma gondii
Toxoplasma gondii is an intestinal coccidium that multiplies within cats as definitive hosts as well as within many other mammals and birds as intermediate hosts. T. gondii reproduces sexually only in cats. It infects the intestinal epithelium and produces oocysts which are shed in the feces. Humans acquire infections most often by consumption of undercooked meat containing tissue cysts or food contaminated by cat feces. Less than 0.1 percent of human cases are acquired congenitally. Toxoplasmosis is minor and self-limiting in immunocompetent individuals who may be asymptomatic or present with fever, lymphadenopathy, muscle aches and headache. Toxoplasma may manifest as encephalitis in immunosuppressed individuals including patients with acquired immune deficiency syndrome (AIDS) and may lead to coma or death. T. gondii often infects the brain and retina in congenitally infected children. Mild symptoms include slightly diminished vision while severely diseased children exhibit a pattern of retinochoroiditis, hydrocephalus, convulsions and intracerebral calcifications. Ocular disease may also occur. Toxoplasma is diagnosed through serology and upon histologic examination of tissues. Prevention includes thorough cooking of meat and proper management of cats. Sulfadiazine and pyrimethamine can be used to treat acute cases. [NCBI Books:NBK7627]
Source: Regenstrief LOINC
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Toxoplasma gondii Ab.IgG
- Property
- PrThr
- Time
- Pt
- System
- Bld.dot
- Scale
- Ord
- Method
Additional Names
- Short Name
- T gondii IgG DBS Ql
- Display Name
- T. gondii IgG Ql (DBS)
- Consumer Name Alpha Get Info
- Toxoplasma gondii IgG antibody, Dried blood spot
Basic Attributes
- Class
- MICRO
- Type
- Laboratory
- First Released
- Version 2.26
- Last Updated
- Version 2.61
- Change Reason
- The PrThr property is used for LOINC terms whose results are reported using an ordered categorical scale, regardless of whether or not an internal threshold was used to make that determination. This change was approved by the Laboratory LOINC Committee in June 2016.
- Order vs. Observation
- Both
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54082-3 | Infectious diseases newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| de-DE | German (Germany) | Toxoplasma gondii Ak.IgG: |
| es-MX | Spanish (Mexico) | Toxoplasma gondii Ab.IgG: |
| es-ES | Spanish (Spain) | Toxoplasma gondii IgG: |
| et-EE | Estonian (Estonia) | Toxoplasma gondii antikehad.IgG: Synonyms: Immuunglobuliin G Järgarvuline Juhuslik Veri |
| fr-CA | French (Canada) | Toxoplasma gondii, IgG: |
| fr-FR | French (France) | Toxoplasma gondii Ac IgG: |
| fr-BE | French (Belgium) | Toxoplasma gondii Anticorps. IgG: Synonyms: Anticorps |
| it-IT | Italian (Italy) | Toxoplasma gondii Ab.IgG: Synonyms: anticorpi IgG anticorpo Microbiologia Presenza o Soglia Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | Toxoplasma gondii As.IgG: Synonyms: antistof; |
| pt-BR | Portuguese (Brazil) | Toxoplasma gondii Ac.IgG: Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Toxoplasma gondii Ат.IgG: Synonyms: Антитело Кровь Кровь сухая капля Порядковый Точка во времени; |
| tr-TR | Turkish (Turkey) | Toxoplasma gondii Ab.IgG: Synonyms: Ak Ak.IgG Mevcut |
| zh-CN | Chinese (China) | 刚地弓形虫 抗体.IgG: Synonyms: Ab.IgG; |
54088-0 Toxoplasma gondii IgM Ab [Presence] in DBS
Part Descriptions
LP14252-8 Toxoplasma gondii
Toxoplasma gondii is an intestinal coccidium that multiplies within cats as definitive hosts as well as within many other mammals and birds as intermediate hosts. T. gondii reproduces sexually only in cats. It infects the intestinal epithelium and produces oocysts which are shed in the feces. Humans acquire infections most often by consumption of undercooked meat containing tissue cysts or food contaminated by cat feces. Less than 0.1 percent of human cases are acquired congenitally. Toxoplasmosis is minor and self-limiting in immunocompetent individuals who may be asymptomatic or present with fever, lymphadenopathy, muscle aches and headache. Toxoplasma may manifest as encephalitis in immunosuppressed individuals including patients with acquired immune deficiency syndrome (AIDS) and may lead to coma or death. T. gondii often infects the brain and retina in congenitally infected children. Mild symptoms include slightly diminished vision while severely diseased children exhibit a pattern of retinochoroiditis, hydrocephalus, convulsions and intracerebral calcifications. Ocular disease may also occur. Toxoplasma is diagnosed through serology and upon histologic examination of tissues. Prevention includes thorough cooking of meat and proper management of cats. Sulfadiazine and pyrimethamine can be used to treat acute cases. [NCBI Books:NBK7627]
Source: Regenstrief LOINC
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Toxoplasma gondii Ab.IgM
- Property
- PrThr
- Time
- Pt
- System
- Bld.dot
- Scale
- Ord
- Method
Additional Names
- Short Name
- T gondii IgM DBS Ql
- Display Name
- T. gondii IgM Ql (DBS)
- Consumer Name Alpha Get Info
- Toxoplasma gondii IgM antibody, Dried blood spot
Basic Attributes
- Class
- MICRO
- Type
- Laboratory
- First Released
- Version 2.26
- Last Updated
- Version 2.61
- Change Reason
- The PrThr property is used for LOINC terms whose results are reported using an ordered categorical scale, regardless of whether or not an internal threshold was used to make that determination. This change was approved by the Laboratory LOINC Committee in June 2016.
- Order vs. Observation
- Both
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54082-3 | Infectious diseases newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| de-DE | German (Germany) | Toxoplasma gondii Ak.IgM: |
| es-ES | Spanish (Spain) | Toxoplasma gondii IgM: |
| es-MX | Spanish (Mexico) | Toxoplasma gondii Ab.IgM: |
| et-EE | Estonian (Estonia) | Toxoplasma gondii antikehad.IgM: Synonyms: Immuunglobuliin M Järgarvuline Juhuslik Veri |
| fr-CA | French (Canada) | Toxoplasma gondii, IgM: |
| fr-FR | French (France) | Toxoplasma gondii Ac IgM: |
| fr-BE | French (Belgium) | Toxoplasma gondii Anticorps. IgM: Synonyms: Anticorps |
| it-IT | Italian (Italy) | Toxoplasma gondii Ab.IgM: Synonyms: Anticorpi IgM anticorpo Microbiologia Presenza o Soglia Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | Toxoplasma gondii As.IgM: Synonyms: antistof; |
| pt-BR | Portuguese (Brazil) | Toxoplasma gondii Ac.IgM: Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Toxoplasma gondii Ат.IgM: Synonyms: Антитело Кровь Кровь сухая капля Порядковый Точка во времени; |
| tr-TR | Turkish (Turkey) | Toxoplasma gondii Ab.IgM: Synonyms: Ak Ak.IgM Mevcut |
| zh-CN | Chinese (China) | 刚地弓形虫 抗体.IgM: Synonyms: Ab.IgM; |
57087-9 Biotinidase newborn screening panel
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Biotinidase newborn screening panel
- Property
- -
- Time
- Pt
- System
- Bld.dot
- Scale
- -
- Method
Additional Names
- Short Name
- BIO NB scn pnl DBS
- Display Name
- Biotinidase NBS panel (DBS)
- Consumer Name Alpha Get Info
- Biotinidase NBS Panel, Dried blood spot
Basic Attributes
- Class
- PANEL.CHEM
- Type
- Laboratory
- First Released
- Version 2.29
- Last Updated
- Version 2.77
- Order vs. Observation
- Order
- Panel Type
- Panel
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Panel de cribado neonatal de biotinidasa: |
| es-MX | Spanish (Mexico) | Panel de detección de biotinidasa en recién nacidos: |
| fr-FR | French (France) | Biotinidase dépistage néonatal panel: |
| it-IT | Italian (Italy) | Biotinidasi, panel di screening neonatale: Synonyms: Chimica Panel screening neonatale Panel screening neonatale per biotinidasi Punto nel tempo (episodio) Sangue Set di prescrizione chimica Spot sangue secco |
| nl-NL | Dutch (Netherlands) | biotinidase pasgeborene screening panel: |
| pt-BR | Portuguese (Brazil) | Biotinidase painel de triagem neonatal: Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Биотинидаза новорождённый скрининг панель: Synonyms: Кровь Кровь сухая капля Точка во времени; |
| zh-CN | Chinese (China) | 生物素酶新生儿筛查组套: Synonyms: Asympt SCN 全血斑点(滤纸); |
46761-3 Biotinidase deficiency newborn screen interpretation
Part Descriptions
LP56771-6 Biotinidase deficiency
The late onset form of MULTIPLE CARBOXYLASE DEFICIENCY (deficiency of the activities of biotin-dependent enzymes propionyl-CoA carboxylase, methylcrotonyl-CoA carboxylase, and PYRUVATE CARBOXYLASE) due to a defect or deficiency in biotinidase which is essential for recycling BIOTIN.
Source: National Library of Medicine, MeSH 2006
Observation Required in Panel
Required
Fully-Specified Name
- Component
- Biotinidase deficiency
- Property
- Imp
- Time
- Pt
- System
- Bld.dot
- Scale
- Nom
- Method
Additional Names
- Short Name
- BIOT DBS-Imp
- Display Name
- Biotinidase deficiency (DBS) [Interp]
- Consumer Name Alpha Get Info
- Biotinidase deficiency, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.19
- Last Updated
- Version 2.73
- Change Reason
- Changed answer list from "Normative" to "Preferred" to fit the current LOINC model.
- Order vs. Observation
- Observation
- Common Test Rank Get Info
- 5014
Preferred Answer List LL840-0
| Answer | Code | Score | Answer ID |
|---|---|---|---|
| In range | LA18592-8 | ||
| Borderline | LA4259-3 | ||
| Indeterminate Copyright http://snomed.info/sct ID:82334004 Indeterminate (qualifier value) | LA11884-6 | ||
| Out of range | LA18593-6 | ||
| Out of range requiring further dried blood spot testing for at least one condition | LA12430-7 | ||
| Out of range requiring immediate referral | LA25817-0 | ||
| Out of range requiring immediate second-tier testing for at least one condition | LA12431-5 | ||
| Out of range requiring deferred follow-up for at least one condition | LA18594-4 | ||
| One or more tests pending | LA16204-2 | ||
| Specimen unsatisfactory for at least one condition | LA16205-9 |
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 57087-9 | Biotinidase newborn screening panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Deficiencia de Biotinidasa: |
| es-MX | Spanish (Mexico) | Deficiencia de biotinidasa: |
| fr-CA | French (Canada) | Déficit en biotinidase: |
| fr-FR | French (France) | Biotinidase carence: |
| fr-BE | French (Belgium) | Déficit en biotinidase: |
| it-IT | Italian (Italy) | Biotinidasi, deficit: Synonyms: Chimica Deficit di biotinidasi Impressione/interpretazione di studio Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | biotinidasedeficiëntie: Synonyms: biotinidase deficientie |
| pt-BR | Portuguese (Brazil) | Deficiência de Biotinidase: Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Биотинидаза недостаточность: Synonyms: Впечатление/интерпретация исследования Кровь Кровь сухая капля Недостаточность биотинидазы Номинальный; |
| tr-TR | Turkish (Turkey) | Biyotinidaz yetmezliği: |
| zh-CN | Chinese (China) | 生物素化物酶缺陷: Synonyms: BIOT 全血斑点(滤纸); |
Third Party Copyright
This material includes SNOMED Clinical Terms® (SNOMED CT®) which is used by permission of the International Health Terminology Standards Development Organisation (IHTSDO) under license. All rights reserved. SNOMED CT® was originally created by The College of American Pathologists. "SNOMED" and "SNOMED CT" are registered trademarks of the IHTSDO.
This material includes content from the US Edition to SNOMED CT, which is developed and maintained by the U.S. National Library of Medicine and is available to authorized UMLS Metathesaurus Licensees from the UTS Downloads site at https://uts.nlm.nih.gov.
Use of SNOMED CT content is subject to the terms and conditions set forth in the SNOMED CT Affiliate License Agreement. It is the responsibility of those implementing this product to ensure they are appropriately licensed and for more information on the license, including how to register as an Affiliate Licensee, please refer to http://www.snomed.org/snomed-ct/get-snomed-ct or info@snomed.org<mailto:info@snomed.org>. This may incur a fee in SNOMED International non-Member countries.
57699-1 Biotinidase deficiency newborn screening comment-discussion
Part Descriptions
LP56771-6 Biotinidase deficiency
The late onset form of MULTIPLE CARBOXYLASE DEFICIENCY (deficiency of the activities of biotin-dependent enzymes propionyl-CoA carboxylase, methylcrotonyl-CoA carboxylase, and PYRUVATE CARBOXYLASE) due to a defect or deficiency in biotinidase which is essential for recycling BIOTIN.
Source: National Library of Medicine, MeSH 2006
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Biotinidase deficiency newborn screening comment-discussion
- Property
- Txt
- Time
- Pt
- System
- Bld.dot
- Scale
- Nar
- Method
Additional Names
- Short Name
- BIOT NBS comment
- Display Name
- Biotinidase deficiency newborn screening comment-discussion Nar (DBS)
- Consumer Name Alpha Get Info
- Biotinidase deficiency newborn screening comment-discussion, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.29
- Last Updated
- Version 2.73
- Order vs. Observation
- Observation
- Common Test Rank Get Info
- 19546
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 57087-9 | Biotinidase newborn screening panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Deficiencia de Biotinidasa screnning de recién nacidos comentario-discusión: |
| es-MX | Spanish (Mexico) | Comentario-discusión sobre el cribado neonatal por deficiencia de biotinidasa: |
| fr-FR | French (France) | Biotinidase carence dépistage néonatal (commentaire/discussion): |
| fr-BE | French (Belgium) | Déficit en biotinidase Commentaires.screening néonatal.discussion: |
| it-IT | Italian (Italy) | Biotinidasi, deficit, screening neonatale, commenti-discussione: Synonyms: Chimica Commento/discussione di screening neonatale per deficit di biotinidasi Deficit di biotinidasi Punto nel tempo (episodio) Sangue Spot sangue secco Testo |
| nl-NL | Dutch (Netherlands) | biotinidasedeficiëntie screening van pasgeborene commentaar-discussie: Synonyms: biotinidase deficientie |
| pt-BR | Portuguese (Brazil) | Deficiência de biotinidase na triagem neonatal comentários-discussão: Synonyms: Remarks; |
| ru-RU | Russian (Russian Federation) | Биотинидаза недостаточность новорожденный скрининг комментарий-дискуссия: Synonyms: Кровь Кровь сухая капля Недостаточность биотинидазы Описательный Текст Точка во времени; |
| tr-TR | Turkish (Turkey) | Biyotinidaz yetmezliği yenidoğan tarama öneri-tartışma: |
| zh-CN | Chinese (China) | 生物素化物酶缺陷 新生儿筛查注释-讨论: Synonyms: Asympt BIOT SCN 全血斑点(滤纸); |
38478-4 Biotinidase [Presence] in DBS
Part Descriptions
LP15452-3 Biotinidase
Biotinidase is a human enzyme coded for by the BTD gene. It facilitates the use and recycling of the B vitamin biotin, sometimes called vitamin H. It removes biotin from food because biotin is needed in its free form. Biotinidase also recycles biotin from certain enzymes, known as carboxylases. These enzymes are important in the processing of fats, carbohydrates and proteins. Biotin is attached to the carboxylases through an amino acid called lysine, forming a complex called biocytin. Biotinidase removes biotin from biocytin and makes it available to be reused by other enzymes.
Mutations in the BTD gene cause biotinidase deficiency. Approximately 100 mutations in the BTD gene that lead to biotinidase deficiency have been discovered. These mutations either prevent the enzyme from being made or cause the enzyme that is produced to be nonfunctional.
Copyright Text is available under the Creative Commons Attribution/Share-Alike License. See http://creativecommons.org/licenses/by-sa/3.0/ for details.
Source: Wikipedia, Biotinidase
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Biotinidase
- Property
- PrThr
- Time
- Pt
- System
- Bld.dot
- Scale
- Ord
- Method
Additional Names
- Short Name
- Biotinidase DBS Ql
- Display Name
- Biotinidase Ql (DBS)
- Consumer Name Alpha Get Info
- Biotinidase, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.14
- Last Updated
- Version 2.73
- Change Reason
- The PrThr property is used for LOINC terms whose results are reported using an ordered categorical scale, regardless of whether or not an internal threshold was used to make that determination. This change was approved by the Laboratory LOINC Committee in June 2016.
- Order vs. Observation
- Both
- Common Test Rank Get Info
- 1407
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 57087-9 | Biotinidase newborn screening panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| de-DE | German (Germany) | Biotinidase: |
| es-ES | Spanish (Spain) | Biotinidasa: |
| es-MX | Spanish (Mexico) | Biotinidasa: |
| es-AR | Spanish (Argentina) | biotinidasa: |
| et-EE | Estonian (Estonia) | Biotinidaas: Synonyms: Järgarvuline Juhuslik Veri |
| fr-CA | French (Canada) | Biotinidase: |
| fr-FR | French (France) | Biotinidase: |
| fr-BE | French (Belgium) | Biotinidase: |
| it-IT | Italian (Italy) | Biotinidasi: Synonyms: Chimica Presenza o Soglia Punto nel tempo (episodio) Sangue Spot sangue secco |
| ko-KR | Korean (Korea, Republic Of) | 바이오티니다아제: |
| nl-NL | Dutch (Netherlands) | biotinidase: |
| pt-BR | Portuguese (Brazil) | Biotinidase: Synonyms: Arbitrary concentration; |
| ru-RU | Russian (Russian Federation) | Биотинидаза: Synonyms: Кровь Кровь сухая капля Порядковый Точка во времени; |
| tr-TR | Turkish (Turkey) | Biyotinidaz: Synonyms: Mevcut |
| zh-CN | Chinese (China) | 生物素化物酶: Synonyms: 依次型; |
75217-0 Biotinidase [Enzymatic activity/volume] in DBS
Term Description
Biotinidase is a marker for biotinidase deficiency, which is one of the core conditions on the HHS Secretary's Recommended Uniform Screening Panel for newborn screening. The submitter's lab uses Astoria-Pacific's SPOTCHECK analyzer to measure biotinidase, which is reported in ERUs (enzyme response units). ERU units are defined as follows: "One ERU is equal to one micromole of PABA (product) produced from Biotin-PAB (substrate) per 100 mL per 90 minutes in the extract from a dried blood spot."
Source: Regenstrief LOINC
Part Descriptions
LP15452-3 Biotinidase
Biotinidase is a human enzyme coded for by the BTD gene. It facilitates the use and recycling of the B vitamin biotin, sometimes called vitamin H. It removes biotin from food because biotin is needed in its free form. Biotinidase also recycles biotin from certain enzymes, known as carboxylases. These enzymes are important in the processing of fats, carbohydrates and proteins. Biotin is attached to the carboxylases through an amino acid called lysine, forming a complex called biocytin. Biotinidase removes biotin from biocytin and makes it available to be reused by other enzymes.
Mutations in the BTD gene cause biotinidase deficiency. Approximately 100 mutations in the BTD gene that lead to biotinidase deficiency have been discovered. These mutations either prevent the enzyme from being made or cause the enzyme that is produced to be nonfunctional.
Copyright Text is available under the Creative Commons Attribution/Share-Alike License. See http://creativecommons.org/licenses/by-sa/3.0/ for details.
Source: Wikipedia, Biotinidase
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Biotinidase
- Property
- CCnc
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- Biotinidase DBS-cCnc
- Display Name
- Biotinidase (DBS) [Catalytic activity/Vol]
- Consumer Name Alpha Get Info
- Biotinidase, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.48
- Last Updated
- Version 2.73
- Order vs. Observation
- Both
- Common Test Rank Get Info
- 16427
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 57087-9 | Biotinidase newborn screening panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Biotinidasa: Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Biotinidasa: |
| et-EE | Estonian (Estonia) | Biotinidaas: Synonyms: Juhuslik Kvantitatiivne Veri |
| fr-CA | French (Canada) | Biotinidase: |
| fr-FR | French (France) | Biotinidase: |
| fr-BE | French (Belgium) | Biotinidase: |
| it-IT | Italian (Italy) | Biotinidasi: Synonyms: Chimica Concentrazione Catalitica Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | biotinidase: |
| pt-BR | Portuguese (Brazil) | Biotinidase: |
| ru-RU | Russian (Russian Federation) | Биотинидаза: Synonyms: Каталитическая концентрация Количественный Кровь Кровь сухая капля Точка во времени; |
| tr-TR | Turkish (Turkey) | Biyotinidaz: |
| zh-CN | Chinese (China) | 生物素化物酶: Synonyms: 催化浓度(单位体积); |
Example Units
| Unit | Source |
|---|---|
| nmol/mL/min | Example UCUM Units |
58091-0 Glucose-6-Phosphate dehydrogenase newborn screen panel
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Glucose-6-Phosphate dehydrogenase newborn screen panel
- Property
- -
- Time
- Pt
- System
- Bld.dot
- Scale
- -
- Method
Additional Names
- Short Name
- G6PD NBS pnl DBS
- Display Name
- G6PD NBS panel (DBS)
- Consumer Name Alpha Get Info
- G6PD NBS Panel, Dried blood spot
Basic Attributes
- Class
- PANEL.CHEM
- Type
- Laboratory
- First Released
- Version 2.29
- Last Updated
- Version 2.77
- Order vs. Observation
- Order
- Panel Type
- Panel
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Panel de cribado de la glucosa-6-fosfato deshidrogenasa en el recién nacido: |
| es-MX | Spanish (Mexico) | Panel de pantalla para recién nacidos de glucosa-6-fosfato deshidrogenasa: |
| et-EE | Estonian (Estonia) | Glükoos-6-fosfaatdehüdrogenaasi sõeluuring vastsündinul: Synonyms: Juhuslik Veri |
| fr-FR | French (France) | Glucose-6-phosphate déhydrogénase dépistage néonatal panel: |
| fr-BE | French (Belgium) | Panel screening néonatal G6PDH: Synonyms: G6P-déshydrogénase, G6PD,G6PDH Panel screening néonatal Glucose-6Phosphate-DésHydrogénase |
| it-IT | Italian (Italy) | Glucosio-6-Fosfato deidrogenasi, panel screening neonatale: Synonyms: Chimica G6PD Panel screening neonatale per glucosio-6-Fosfato d Punto nel tempo (episodio) Sangue Set di prescrizione chimica Spot sangue secco |
| nl-NL | Dutch (Netherlands) | glucose-6-fosfatedehydrogenase pasgeborene screening panel: |
| pl-PL | Polish (Poland) | Panel przesiewowy dla noworodków dehydrogenazy glukozo-6-fosforanowej: |
| pt-BR | Portuguese (Brazil) | Glicose-6-Fosfato dehidrogenase triagem neonatal painel: Synonyms: Phos; |
| ru-RU | Russian (Russian Federation) | Глюкозо-6-Фосфат дегидрогеназа новорождённый скрин панель: Synonyms: Кровь Кровь сухая капля Точка во времени; |
| zh-CN | Chinese (China) | 葡萄糖-6-磷酸脱氢酶新生儿筛查组套: Synonyms: G6PD; |
58089-4 Glucose-6-Phosphate dehydrogenase newborn screen interpretation
Part Descriptions
LP15601-5 Glucose-6-Phosphate dehydrogenase
Glucose 6-Phosphate Dehydrogenase (G6PD) deficiency causes hemolytic anemia following the use of some drugs, bacterial or viral infections, or metabolic disorder such as acidosis. Three G6PD variants occur frequently and have clinical implications in different ethnic groups. Heinz bodies may appear in peripheral red blood cells when G6PD-mediated hemolysis occurs. Younger red cells and reticulocytes contain more G6PD and may cause normal values if blood is collected following a hemolytic crisis.
Source: Regenstrief Institute
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Glucose-6-Phosphate dehydrogenase
- Property
- Imp
- Time
- Pt
- System
- Bld.dot
- Scale
- Nar
- Method
Additional Names
- Short Name
- G6PD DBS-Imp
- Display Name
- G6PD Nar (DBS) [Interp]
- Consumer Name Alpha Get Info
- Interpretation of Glucose-6-Phosphate dehydrogenase test result, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.29
- Last Updated
- Version 2.56
- Change Reason
- Changed answer list from "Normative" to "Preferred" to fit the current LOINC model.
- Order vs. Observation
- Observation
Preferred Answer List LL840-0
| Answer | Code | Score | Answer ID |
|---|---|---|---|
| In range | LA18592-8 | ||
| Borderline | LA4259-3 | ||
| Indeterminate Copyright http://snomed.info/sct ID:82334004 Indeterminate (qualifier value) | LA11884-6 | ||
| Out of range | LA18593-6 | ||
| Out of range requiring further dried blood spot testing for at least one condition | LA12430-7 | ||
| Out of range requiring immediate referral | LA25817-0 | ||
| Out of range requiring immediate second-tier testing for at least one condition | LA12431-5 | ||
| Out of range requiring deferred follow-up for at least one condition | LA18594-4 | ||
| One or more tests pending | LA16204-2 | ||
| Specimen unsatisfactory for at least one condition | LA16205-9 |
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 58091-0 | Glucose-6-Phosphate dehydrogenase newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Glucosa 6-Fosfatodeshidrogenasa: |
| es-MX | Spanish (Mexico) | Glucosa-6-fosfato deshidrogenasa: |
| fr-CA | French (Canada) | Glucose-6-phosphate déshydrogénase: |
| fr-FR | French (France) | Glucose-6-phosphate déhydrogénase: |
| fr-BE | French (Belgium) | Glucose-6-phosphate déshydrogénase: Synonyms: G6P-déshydrogénase, G6PD,G6PDH |
| it-IT | Italian (Italy) | Glucosio-6-Fosfato deidrogenasi: Synonyms: Chimica G6PD Impressione/interpretazione di studio Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | glucose-6-fosfatedehydrogenase: |
| pt-BR | Portuguese (Brazil) | Glicose-6-Fosfato dehidrogenase: Synonyms: Phos; |
| ru-RU | Russian (Russian Federation) | Глюкозо-6-фосфат дегидрогеназа: Synonyms: Впечатление/интерпретация исследования Кровь Кровь сухая капля Описательный Точка во времени; |
| tr-TR | Turkish (Turkey) | Glukoz-6-Fosfat dehidrojenaz: |
| zh-CN | Chinese (China) | 葡萄糖-6-磷酸脱氢酶: Synonyms: G6PD; |
Third Party Copyright
This material includes SNOMED Clinical Terms® (SNOMED CT®) which is used by permission of the International Health Terminology Standards Development Organisation (IHTSDO) under license. All rights reserved. SNOMED CT® was originally created by The College of American Pathologists. "SNOMED" and "SNOMED CT" are registered trademarks of the IHTSDO.
This material includes content from the US Edition to SNOMED CT, which is developed and maintained by the U.S. National Library of Medicine and is available to authorized UMLS Metathesaurus Licensees from the UTS Downloads site at https://uts.nlm.nih.gov.
Use of SNOMED CT content is subject to the terms and conditions set forth in the SNOMED CT Affiliate License Agreement. It is the responsibility of those implementing this product to ensure they are appropriately licensed and for more information on the license, including how to register as an Affiliate Licensee, please refer to http://www.snomed.org/snomed-ct/get-snomed-ct or info@snomed.org<mailto:info@snomed.org>. This may incur a fee in SNOMED International non-Member countries.
58090-2 Glucose-6-Phosphate dehydrogenase newborn screening comment-discussion
Part Descriptions
LP15601-5 Glucose-6-Phosphate dehydrogenase
Glucose 6-Phosphate Dehydrogenase (G6PD) deficiency causes hemolytic anemia following the use of some drugs, bacterial or viral infections, or metabolic disorder such as acidosis. Three G6PD variants occur frequently and have clinical implications in different ethnic groups. Heinz bodies may appear in peripheral red blood cells when G6PD-mediated hemolysis occurs. Younger red cells and reticulocytes contain more G6PD and may cause normal values if blood is collected following a hemolytic crisis.
Source: Regenstrief Institute
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Glucose-6-Phosphate dehydrogenase newborn screening comment-discussion
- Property
- Txt
- Time
- Pt
- System
- Bld.dot
- Scale
- Nar
- Method
Additional Names
- Short Name
- G6PD NBS comment
- Display Name
- G6PD newborn screening comment-discussion Nar (DBS)
- Consumer Name Alpha Get Info
- Glucose-6-Phosphate dehydrogenase newborn screening comment-discussion, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.29
- Last Updated
- Version 2.42
- Order vs. Observation
- Observation
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 58091-0 | Glucose-6-Phosphate dehydrogenase newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Glucosa 6-Fosfatodeshidrogenasa screnning de recién nacidos comentario-discusión: |
| es-MX | Spanish (Mexico) | Comentario-discusión del cribado de recién nacidos con glucosa-6-fosfato deshidrogenasa: |
| fr-FR | French (France) | Glucose-6-phosphate déhydrogénase dépistage néonatal (commentaire-discussion): |
| fr-BE | French (Belgium) | Glucose-6-phosphate déshydrogénase Commentaires.screening néonatal.discussion: Synonyms: G6P-déshydrogénase, G6PD,G6PDH |
| it-IT | Italian (Italy) | Glucosio-6-Fosfato deidrogenasi, screening neonatale, commenti-discussione: Synonyms: Chimica Commento/discussione di screening neonatale per glucosio-6-Fosfato deidrogenasi G6PD Punto nel tempo (episodio) Sangue Spot sangue secco Testo |
| nl-NL | Dutch (Netherlands) | glucose-6-fosfatedehydrogenase screening van pasgeborene commentaar-discussie: |
| pl-PL | Polish (Poland) | Dehydrogenaza glukozo-6-fosforanu komentarz-dyskusja nad badaniami przesiewowymi noworodka: Synonyms: Dehydrogenaza glukozo-6-fosforanu (G6PD) badanie przesiewowe noworodków interpretacja |
| pt-BR | Portuguese (Brazil) | Glicose-6-Fosfato dehidrogenase triagem neonatal comentários-discussão: Synonyms: Phos; |
| ru-RU | Russian (Russian Federation) | Глюкозо-6-фосфат дегидрогеназа новорожденный скрининг комментарий-дискуссия: Synonyms: Кровь Кровь сухая капля Описательный Текст Точка во времени; |
| tr-TR | Turkish (Turkey) | Glukoz-6-Fosfat dehidrojenaz yenidoğan tarama öneri-tartışma: |
| zh-CN | Chinese (China) | 葡萄糖-6-磷酸脱氢酶 新生儿筛查注释-讨论: Synonyms: Asympt G6PD; |
33287-4 Glucose-6-Phosphate dehydrogenase [Presence] in DBS
Part Descriptions
LP15601-5 Glucose-6-Phosphate dehydrogenase
Glucose 6-Phosphate Dehydrogenase (G6PD) deficiency causes hemolytic anemia following the use of some drugs, bacterial or viral infections, or metabolic disorder such as acidosis. Three G6PD variants occur frequently and have clinical implications in different ethnic groups. Heinz bodies may appear in peripheral red blood cells when G6PD-mediated hemolysis occurs. Younger red cells and reticulocytes contain more G6PD and may cause normal values if blood is collected following a hemolytic crisis.
Source: Regenstrief Institute
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Glucose-6-Phosphate dehydrogenase
- Property
- PrThr
- Time
- Pt
- System
- Bld.dot
- Scale
- Ord
- Method
Additional Names
- Short Name
- G6PD DBS Ql
- Display Name
- G6PD Ql (DBS)
- Consumer Name Alpha Get Info
- Glucose-6-Phosphate dehydrogenase, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.09
- Last Updated
- Version 2.73
- Change Reason
- The PrThr property is used for LOINC terms whose results are reported using an ordered categorical scale, regardless of whether or not an internal threshold was used to make that determination. This change was approved by the Laboratory LOINC Committee in June 2016.
- Order vs. Observation
- Both
- Common Test Rank Get Info
- 2488
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 58091-0 | Glucose-6-Phosphate dehydrogenase newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-MX | Spanish (Mexico) | Glucosa-6-fosfato deshidrogenasa: |
| es-ES | Spanish (Spain) | Glucosa 6-Fosfatodeshidrogenasa: |
| es-AR | Spanish (Argentina) | glucosa-6-fosfato deshidrogenasa: |
| et-EE | Estonian (Estonia) | Glükoos-6-fosfaadi dehüdrogenaas: Synonyms: Järgarvuline Juhuslik Veri |
| fr-CA | French (Canada) | Glucose-6-phosphate déshydrogénase: |
| fr-FR | French (France) | Glucose-6-phosphate déhydrogénase: |
| fr-BE | French (Belgium) | Glucose-6-phosphate déshydrogénase: Synonyms: G6P-déshydrogénase, G6PD,G6PDH |
| it-IT | Italian (Italy) | Glucosio-6-Fosfato deidrogenasi: Synonyms: Chimica G6PD Presenza o Soglia Punto nel tempo (episodio) Sangue Spot sangue secco |
| ko-KR | Korean (Korea, Republic Of) | 포도당-6-인산탈수소효소: |
| nl-NL | Dutch (Netherlands) | glucose-6-fosfatedehydrogenase: |
| pl-PL | Polish (Poland) | Dehydrogenaza glukozo-6-fosforanu: |
| pt-BR | Portuguese (Brazil) | Glicose-6-Fosfato Dehidrogenase: Synonyms: Phos; |
| ru-RU | Russian (Russian Federation) | Глюкозо-6-фосфат дегидрогеназа: Synonyms: Кровь Кровь сухая капля Порядковый Точка во времени; |
| tr-TR | Turkish (Turkey) | Glukoz-6-Fosfat dehidrojenaz: Synonyms: Mevcut |
| zh-CN | Chinese (China) | 葡萄糖-6-磷酸脱氢酶: Synonyms: G6PD; |
62300-9 Lysosomal storage disorders newborn screening panel
Reference Information
| Type | Source | Reference |
|---|---|---|
| Article | National Library of Medicine | Wang RY, Bodamer OA, Watson MS, Wilcox WR; ACMG Work Group on Diagnostic Confirmation of Lysosomal Storage Diseases. Lysosomal storage diseases: diagnostic confirmation and management of presymptomatic individuals. Genet Med. 2011 May;13(5):457-84. [PMID: 21502868] Genet Med |
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Lysosomal storage disorders newborn screening panel
- Property
- -
- Time
- Pt
- System
- Bld.dot
- Scale
- -
- Method
Additional Names
- Short Name
- LSD NBS pnl DBS
- Display Name
- Lysosomal storage disorders NBS panel (DBS)
- Consumer Name Alpha Get Info
- Lysosomal Storage Disorders NBS Panel, Dried blood spot
Basic Attributes
- Class
- PANEL.CHEM
- Type
- Laboratory
- First Released
- Version 2.34
- Last Updated
- Version 2.77
- Order vs. Observation
- Order
- Panel Type
- Panel
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Cribado de trastornos de almacenamiento lisosomal en recién nacido: |
| es-MX | Spanish (Mexico) | Panel de cribado neonatal de trastornos por almacenamiento lisosómico: |
| fr-FR | French (France) | Maladie lysosomiales dépistage néonatal panel: |
| it-IT | Italian (Italy) | Disturbo da accumulo lisosomiale, panel screening neonatale: Synonyms: Chimica Panel screening neonatale Panel screening neonatale per disturbo da accumulo Punto nel tempo (episodio) Sangue Set di prescrizione chimica Spot sangue secco |
| nl-NL | Dutch (Netherlands) | lysosomale stapelingsziekte pasgeborene screening panel: |
| pt-BR | Portuguese (Brazil) | Doenças de depósito lisossômico painel de triagem neonatal: |
| ru-RU | Russian (Russian Federation) | Лизосомальные болезни накопления новорождённых скрининг панель: Synonyms: Кровь Кровь сухая капля Точка во времени; |
| zh-CN | Chinese (China) | 溶酶体贮积症新生儿筛查组套: Synonyms: Asympt SCN 全血斑点(滤纸); |
62301-7 Lysosomal storage disorders newborn screen interpretation
Part Descriptions
LP111174-1 Lysosomal storage disorders
Lysosomal storage diseases (LSDs) are a group of approximately 40 rare inherited metabolic disorders that result from defects in lysosomal function. Lysosomal storage diseases result when a specific organelle in the body's cells - the lysosome - malfunctions.
Tay-Sachs disease was the first of these disorders to be described, followed by Gaucher disease.
Lysosomal storage disorders are caused by lysosomal dysfunction usually as a consequence of deficiency of a single enzyme required for the metabolism of lipids, glycoproteins (sugar containing proteins) or so-called mucopolysaccharides. Individually, LSDs occur with incidences of less than 1:100.000, however, as a group the incidence is about 1:5000 - 1:10.000. Most of these disorders are autosomal recessively inherited, however a few are X-linked recessively inherited, such as Fabry disease and Hunter syndrome (MPS II).
Copyright Text is available under the Creative Commons Attribution/Share-Alike License. See http://creativecommons.org/licenses/by-sa/3.0/ for details.
Source: Wikipedia, Wikipedia
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Lysosomal storage disorders
- Property
- Imp
- Time
- Pt
- System
- Bld.dot
- Scale
- Nom
- Method
Additional Names
- Short Name
- LSD DBS-Imp
- Display Name
- Lysosomal storage disorders (DBS) [Interp]
- Consumer Name Alpha Get Info
- Lysosomal storage disorders, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.34
- Last Updated
- Version 2.71
- Change Reason
- Changed answer list from "Normative" to "Preferred" to fit the current LOINC model.
- Order vs. Observation
- Observation
Preferred Answer List LL840-0
| Answer | Code | Score | Answer ID |
|---|---|---|---|
| In range | LA18592-8 | ||
| Borderline | LA4259-3 | ||
| Indeterminate Copyright http://snomed.info/sct ID:82334004 Indeterminate (qualifier value) | LA11884-6 | ||
| Out of range | LA18593-6 | ||
| Out of range requiring further dried blood spot testing for at least one condition | LA12430-7 | ||
| Out of range requiring immediate referral | LA25817-0 | ||
| Out of range requiring immediate second-tier testing for at least one condition | LA12431-5 | ||
| Out of range requiring deferred follow-up for at least one condition | LA18594-4 | ||
| One or more tests pending | LA16204-2 | ||
| Specimen unsatisfactory for at least one condition | LA16205-9 |
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 105458-4 | Lysosomal and peroxisomal storage disorders panel - DBS |
| 62300-9 | Lysosomal storage disorders newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Trastornos de almacenamiento lisosomal: |
| es-MX | Spanish (Mexico) | Trastornos por almacenamiento lisosómico: |
| fr-FR | French (France) | Maladie lysosomiales: |
| fr-BE | French (Belgium) | Lysosomes.Maladie stockage.: |
| it-IT | Italian (Italy) | Disturbo da accumulo lisosomiale: Synonyms: Chimica Impressione/interpretazione di studio Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | lysosomale stapelingsziekte: |
| pt-BR | Portuguese (Brazil) | Doenças de depósito lisossômico: |
| ru-RU | Russian (Russian Federation) | Лизосомальные болезни накопления: Synonyms: Впечатление/интерпретация исследования Кровь Кровь сухая капля Номинальный; |
| tr-TR | Turkish (Turkey) | Lizozomal depo bozukluğu: |
| zh-CN | Chinese (China) | 溶酶体贮积症: Synonyms: 全血斑点(滤纸); |
Third Party Copyright
This material includes SNOMED Clinical Terms® (SNOMED CT®) which is used by permission of the International Health Terminology Standards Development Organisation (IHTSDO) under license. All rights reserved. SNOMED CT® was originally created by The College of American Pathologists. "SNOMED" and "SNOMED CT" are registered trademarks of the IHTSDO.
This material includes content from the US Edition to SNOMED CT, which is developed and maintained by the U.S. National Library of Medicine and is available to authorized UMLS Metathesaurus Licensees from the UTS Downloads site at https://uts.nlm.nih.gov.
Use of SNOMED CT content is subject to the terms and conditions set forth in the SNOMED CT Affiliate License Agreement. It is the responsibility of those implementing this product to ensure they are appropriately licensed and for more information on the license, including how to register as an Affiliate Licensee, please refer to http://www.snomed.org/snomed-ct/get-snomed-ct or info@snomed.org<mailto:info@snomed.org>. This may incur a fee in SNOMED International non-Member countries.
62303-3 Lysosomal storage disorders newborn screening comment-discussion
Part Descriptions
LP111174-1 Lysosomal storage disorders
Lysosomal storage diseases (LSDs) are a group of approximately 40 rare inherited metabolic disorders that result from defects in lysosomal function. Lysosomal storage diseases result when a specific organelle in the body's cells - the lysosome - malfunctions.
Tay-Sachs disease was the first of these disorders to be described, followed by Gaucher disease.
Lysosomal storage disorders are caused by lysosomal dysfunction usually as a consequence of deficiency of a single enzyme required for the metabolism of lipids, glycoproteins (sugar containing proteins) or so-called mucopolysaccharides. Individually, LSDs occur with incidences of less than 1:100.000, however, as a group the incidence is about 1:5000 - 1:10.000. Most of these disorders are autosomal recessively inherited, however a few are X-linked recessively inherited, such as Fabry disease and Hunter syndrome (MPS II).
Copyright Text is available under the Creative Commons Attribution/Share-Alike License. See http://creativecommons.org/licenses/by-sa/3.0/ for details.
Source: Wikipedia, Wikipedia
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Lysosomal storage disorders newborn screening comment-discussion
- Property
- Txt
- Time
- Pt
- System
- Bld.dot
- Scale
- Nar
- Method
Additional Names
- Short Name
- LSD NBS comment
- Display Name
- Lysosomal storage disorders newborn screening comment-discussion Nar (DBS)
- Consumer Name Alpha Get Info
- Lysosomal storage disorders newborn screening comment-discussion, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.34
- Last Updated
- Version 2.42
- Order vs. Observation
- Observation
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 62300-9 | Lysosomal storage disorders newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Trastornos de almacenamiento lisosomal screnning de recién nacidos comentario-discusión: |
| es-MX | Spanish (Mexico) | Trastornos por almacenamiento lisosómico cribado neonatal comentario / discusión: |
| fr-FR | French (France) | Maladie lysosomiales dépistage néonatal (commentaire-discussion): |
| fr-BE | French (Belgium) | Lysosomes.Maladie stockage. Commentaires.screening néonatal.discussion: |
| it-IT | Italian (Italy) | Disturbo da accumulo lisosomiale, screening neonatale, commenti-discussione: Synonyms: Chimica Commento-discussione di screening neonatale per disturbo da accumulo lisosomiale Punto nel tempo (episodio) Sangue Spot sangue secco Testo |
| nl-NL | Dutch (Netherlands) | lysosomale stapelingsziekte screening van pasgeborene commentaar-discussie: |
| pt-BR | Portuguese (Brazil) | Doenças de depósito lisossômico triagem neonatal comentários-discussão: |
| ru-RU | Russian (Russian Federation) | Лизосомальные болезни накопления новорожденный скрининг комментарий-дискуссия: Synonyms: Кровь Кровь сухая капля Описательный Текст Точка во времени; |
| tr-TR | Turkish (Turkey) | Lizozomal depo bozukluğu yenidoğan tarama öneri-tartışma: |
| zh-CN | Chinese (China) | 溶酶体贮积症 新生儿筛查注释-讨论: Synonyms: Asympt SCN 全血斑点(滤纸); |
62302-5 Lysosomal storage disorders suspected [Identifier] in DBS
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Lysosomal storage disorders suspected
- Property
- Prid
- Time
- Pt
- System
- Bld.dot
- Scale
- Nom
- Method
Additional Names
- Short Name
- LSD suspected DBS
- Display Name
- Lysosomal storage disorders suspected Nom (DBS)
- Consumer Name Alpha Get Info
- Lysosomal storage disorders suspected, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.34
- Last Updated
- Version 2.61
- Change Reason
- Changed answer list from "Normative" to "Preferred" to fit the current LOINC model.
- Order vs. Observation
- Observation
Preferred Answer List LL1043-0
| Answer | Code | Score | Answer ID |
|---|---|---|---|
| Fabry disease Copyright http://snomed.info/sct ID:16652001 Fabry's disease (disorder) | LA14036-0 | ||
| Pompe disease Copyright http://snomed.info/sct ID:274864009 Glycogen storage disease due to acid maltase deficiency (disorder) | LA14037-8 | ||
| Krabbe disease Copyright http://snomed.info/sct ID:192782005 Galactosylceramide beta-galactosidase deficiency (disorder) | LA14038-6 | ||
| Niemann Pick disease A/B Copyright http://snomed.info/sct ID:58459009 Sphingomyelin/cholesterol lipidosis (disorder) | LA14040-2 | ||
| Gaucher disease Copyright http://snomed.info/sct ID:190794006 Glucosylceramide beta-glucosidase deficiency (disorder) | LA14039-4 | ||
| Mucopolysaccharidosis type I Copyright http://snomed.info/sct ID:75610003 Mucopolysaccharidosis type I (disorder) | LA25797-4 | ||
| Mucopolysaccharidosis type II (disorder) | LA34470-7 |
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 62300-9 | Lysosomal storage disorders newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Sospecha de trastornos de almacenamiento lisosomal: |
| es-MX | Spanish (Mexico) | Se sospecha de trastornos por almacenamiento lisosómico: |
| fr-FR | French (France) | Maladie lysosomiales suspectées: |
| fr-BE | French (Belgium) | Lysosomes.Suspicion Maladie stockage.: |
| it-IT | Italian (Italy) | Disturbo da accumulo lisosomiale sospetto: Synonyms: Chimica Presenza o Identità Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | lysosomale stapelingsziekte verdenking: |
| pt-BR | Portuguese (Brazil) | Suspeita de Doenças de depósito lisossômico: |
| ru-RU | Russian (Russian Federation) | Лизосомальные болезни накопления предполагаемые: Synonyms: Кровь Кровь сухая капля Номинальный; |
| tr-TR | Turkish (Turkey) | Lizozomal depo bozukluğu şüpheli: |
| zh-CN | Chinese (China) | 所怀疑的溶酶体贮积症: Synonyms: 全血斑点(滤纸); |
Third Party Copyright
This material includes SNOMED Clinical Terms® (SNOMED CT®) which is used by permission of the International Health Terminology Standards Development Organisation (IHTSDO) under license. All rights reserved. SNOMED CT® was originally created by The College of American Pathologists. "SNOMED" and "SNOMED CT" are registered trademarks of the IHTSDO.
This material includes content from the US Edition to SNOMED CT, which is developed and maintained by the U.S. National Library of Medicine and is available to authorized UMLS Metathesaurus Licensees from the UTS Downloads site at https://uts.nlm.nih.gov.
Use of SNOMED CT content is subject to the terms and conditions set forth in the SNOMED CT Affiliate License Agreement. It is the responsibility of those implementing this product to ensure they are appropriately licensed and for more information on the license, including how to register as an Affiliate Licensee, please refer to http://www.snomed.org/snomed-ct/get-snomed-ct or info@snomed.org<mailto:info@snomed.org>. This may incur a fee in SNOMED International non-Member countries.
62304-1 Fabry disease newborn screening panel
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Fabry disease newborn screening panel
- Property
- -
- Time
- Pt
- System
- Bld.dot
- Scale
- -
- Method
Additional Names
- Short Name
- Fabry disease NBS pnl DBS
- Display Name
- Fabry disease NBS panel (DBS)
- Consumer Name Alpha Get Info
- Fabry Disease NBS Panel, Dried blood spot
Basic Attributes
- Class
- PANEL.CHEM
- Type
- Laboratory
- First Released
- Version 2.34
- Last Updated
- Version 2.77
- Order vs. Observation
- Order
- Panel Type
- Panel
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 62300-9 | Lysosomal storage disorders newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Cribado de enfermedad de Fabry en recién nacido: |
| es-MX | Spanish (Mexico) | Panel de cribado neonatal de la enfermedad de Fabry: |
| fr-FR | French (France) | Maladie de Fabry dépistage néonatal panel: |
| it-IT | Italian (Italy) | Malattia di Fabry, panel screening neonatale: Synonyms: Chimica Panel screening neonatale Panel screening neonatale per malattia di Fabry Punto nel tempo (episodio) Sangue Set di prescrizione chimica Spot sangue secco |
| nl-NL | Dutch (Netherlands) | ziekte van Fabry pasgeborene screeningspanel: |
| pt-BR | Portuguese (Brazil) | Doença de Fabry painel de triagem neonatal: |
| ru-RU | Russian (Russian Federation) | Фабри болезнь новорожденных скрининг панель: Synonyms: Кровь Кровь сухая капля Точка во времени; |
| zh-CN | Chinese (China) | 法布里病新生儿筛查组套: Synonyms: Asympt SCN 全血斑点(滤纸); |
62305-8 Fabry disease newborn screen interpretation
Observation Required in Panel
Required
Fully-Specified Name
- Component
- Fabry disease
- Property
- Imp
- Time
- Pt
- System
- Bld.dot
- Scale
- Nom
- Method
Additional Names
- Short Name
- Fabry disease DBS-Imp
- Display Name
- Fabry disease (DBS) [Interp]
- Consumer Name Alpha Get Info
- Fabry disease, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.34
- Last Updated
- Version 2.56
- Change Reason
- Changed answer list from "Normative" to "Preferred" to fit the current LOINC model.
- Order vs. Observation
- Observation
Preferred Answer List LL840-0
| Answer | Code | Score | Answer ID |
|---|---|---|---|
| In range | LA18592-8 | ||
| Borderline | LA4259-3 | ||
| Indeterminate Copyright http://snomed.info/sct ID:82334004 Indeterminate (qualifier value) | LA11884-6 | ||
| Out of range | LA18593-6 | ||
| Out of range requiring further dried blood spot testing for at least one condition | LA12430-7 | ||
| Out of range requiring immediate referral | LA25817-0 | ||
| Out of range requiring immediate second-tier testing for at least one condition | LA12431-5 | ||
| Out of range requiring deferred follow-up for at least one condition | LA18594-4 | ||
| One or more tests pending | LA16204-2 | ||
| Specimen unsatisfactory for at least one condition | LA16205-9 |
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 62300-9 | Lysosomal storage disorders newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Enfemedad de Fabry: |
| es-MX | Spanish (Mexico) | Enfermedad de Fabry: |
| fr-CA | French (Canada) | Maladie de Fabry: |
| fr-FR | French (France) | Maladie de Fabry: |
| fr-BE | French (Belgium) | Maladie de Fabry: |
| it-IT | Italian (Italy) | Malattia di Fabry: Synonyms: Chimica Impressione/interpretazione di studio Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | ziekte van Fabry: |
| pt-BR | Portuguese (Brazil) | Doença de Fabry: |
| ru-RU | Russian (Russian Federation) | Фабри болезнь: Synonyms: Впечатление/интерпретация исследования Кровь Кровь сухая капля Номинальный; |
| tr-TR | Turkish (Turkey) | Fabry hastalığı: |
| zh-CN | Chinese (China) | 法布里病: Synonyms: 全血斑点(滤纸); |
Third Party Copyright
This material includes SNOMED Clinical Terms® (SNOMED CT®) which is used by permission of the International Health Terminology Standards Development Organisation (IHTSDO) under license. All rights reserved. SNOMED CT® was originally created by The College of American Pathologists. "SNOMED" and "SNOMED CT" are registered trademarks of the IHTSDO.
This material includes content from the US Edition to SNOMED CT, which is developed and maintained by the U.S. National Library of Medicine and is available to authorized UMLS Metathesaurus Licensees from the UTS Downloads site at https://uts.nlm.nih.gov.
Use of SNOMED CT content is subject to the terms and conditions set forth in the SNOMED CT Affiliate License Agreement. It is the responsibility of those implementing this product to ensure they are appropriately licensed and for more information on the license, including how to register as an Affiliate Licensee, please refer to http://www.snomed.org/snomed-ct/get-snomed-ct or info@snomed.org<mailto:info@snomed.org>. This may incur a fee in SNOMED International non-Member countries.
62306-6 Fabry disease newborn screening comment-discussion
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Fabry disease newborn screening comment-discussion
- Property
- Txt
- Time
- Pt
- System
- Bld.dot
- Scale
- Nar
- Method
Additional Names
- Short Name
- Fabry disease NBS comment
- Display Name
- Fabry disease newborn screening comment-discussion Nar (DBS)
- Consumer Name Alpha Get Info
- Fabry disease newborn screening comment-discussion, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.34
- Last Updated
- Version 2.42
- Order vs. Observation
- Observation
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 62300-9 | Lysosomal storage disorders newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Enfemedad de Fabry screnning de recién nacidos comentario-discusión: |
| es-MX | Spanish (Mexico) | Comentario-discusión sobre la detección del recién nacido de la enfermedad de Fabry: |
| fr-FR | French (France) | Maladie de Fabry dépistage néonatal (commentaire-discussion): |
| fr-BE | French (Belgium) | Maladie de Fabry Commentaires.screening néonatal.discussion: |
| it-IT | Italian (Italy) | Malattia di Fabry, screening neonatale, commenti-discussione: Synonyms: Chimica Commento-discussione di screening neonatale per malattia di Fabry Punto nel tempo (episodio) Sangue Spot sangue secco Testo |
| nl-NL | Dutch (Netherlands) | ziekte van Fabry screening van pasgeborene commentaar-discussie: |
| pt-BR | Portuguese (Brazil) | Doença de Fabry triagem neonatal comentários-discussão: |
| ru-RU | Russian (Russian Federation) | Фабри болезнь новорожденный скрининг комментарий-дискуссия: Synonyms: Кровь Кровь сухая капля Описательный Текст Точка во времени; |
| tr-TR | Turkish (Turkey) | Fabry hastalığı yenidoğan tarama öneri-tartışma: |
| zh-CN | Chinese (China) | 法布里病 新生儿筛查注释-讨论: Synonyms: Asympt SCN 全血斑点(滤纸); |
55908-8 Alpha galactosidase A [Enzymatic activity/volume] in DBS
Term Description
This is a newborn screening test to detect enzymatic activity in dried blood spot to screen for Fabry disease, which is an inherited disorder that results from the buildup of a fatty substance called globotriaosylceramide in the body's cells. This buildup leads to episodes of pain, particularly in the hands and feet; small, dark red spots on the skin called angiokeratomas; decreased sweating (hypohidrosis); corneal opacity; and hearing loss. Fabry disease can also involve potentially life-threatening complications such as progressive kidney damage, heart attack, and stroke. This disorder is caused by mutations in the GLA gene; it has an X-linked pattern of inheritance.
Source: Regenstrief LOINC
Part Descriptions
LP14012-6 Alpha galactosidase A
Alpha (A) galactosidase is an enzyme used in sphingolipid metabolism. The deficiency of the enzyme leads to accumulation of various products that may lead to Fabry's disease, which is lysosomal storage disorder.
Source: Regenstrief Institute
Reference Information
| Type | Source | Reference |
|---|---|---|
| Article | National Library of Medicine | Wang RY, Bodamer OA, Watson MS, Wilcox WR; ACMG Work Group on Diagnostic Confirmation of Lysosomal Storage Diseases. Lysosomal storage diseases: diagnostic confirmation and management of presymptomatic individuals. Genet Med. 2011 May;13(5):457-84. [PMID: 21502868] Genet Med |
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Alpha galactosidase A
- Property
- CCnc
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- A-Galactosidase A DBS-cCnc
- Display Name
- Alpha galactosidase A (DBS) [Catalytic activity/Vol]
- Consumer Name Alpha Get Info
- Alpha Galactosidase A, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.29
- Last Updated
- Version 2.70
- Order vs. Observation
- Both
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 105458-4 | Lysosomal and peroxisomal storage disorders panel - DBS |
| 62300-9 | Lysosomal storage disorders newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| de-AT | German (Austria) | Synonyms: Alpha-Galaktosidase /BT |
| es-ES | Spanish (Spain) | Alfa galactosidasa A: Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Alfa galactosidasa A: |
| et-EE | Estonian (Estonia) | Alfagalaktosidaas: Synonyms: Juhuslik Kvantitatiivne Veri |
| fr-CA | French (Canada) | Alpha galactosidase A: |
| fr-FR | French (France) | Alpha galactosidase A: |
| fr-BE | French (Belgium) | Alpha galactosidase A: |
| it-IT | Italian (Italy) | Alfa galattosidasi A: Synonyms: Chimica Concentrazione Catalitica Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | alfa-galactosidase A: |
| pt-BR | Portuguese (Brazil) | Alfa galactosidase: Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Альфа галактозидаза A: Synonyms: Каталитическая концентрация Количественный Кровь Кровь сухая капля Точка во времени; |
| tr-TR | Turkish (Turkey) | Alfa galaktozidaz A: |
| zh-CN | Chinese (China) | Alpha 半乳糖苷酶: Synonyms: A 型 A-D-半乳糖苷酶; |
Example Units
| Unit | Source |
|---|---|
| umol/L/h | Example UCUM Units |
62307-4 Krabbe disease newborn screening panel
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Krabbe disease newborn screening panel
- Property
- -
- Time
- Pt
- System
- Bld.dot
- Scale
- -
- Method
Additional Names
- Short Name
- Krabbe disease NBS pnl DBS
- Display Name
- Krabbe disease NBS panel (DBS)
- Consumer Name Alpha Get Info
- Krabbe Disease NBS Panel, Dried blood spot
Basic Attributes
- Class
- PANEL.CHEM
- Type
- Laboratory
- First Released
- Version 2.34
- Last Updated
- Version 2.77
- Order vs. Observation
- Order
- Panel Type
- Panel
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 62300-9 | Lysosomal storage disorders newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Cribado de enfermedad de Krabbe en recién nacido: |
| es-MX | Spanish (Mexico) | Panel de detección de recién nacidos con enfermedad de Krabbe: |
| fr-FR | French (France) | Maladie de Krabbe dépistage néonatal panel: |
| it-IT | Italian (Italy) | Malattia di Krabbe, panel screening neonatale: Synonyms: Chimica Panel screening neonatale Panel screening neonatale per malattia di Krabbe Punto nel tempo (episodio) Sangue Set di prescrizione chimica Spot sangue secco |
| nl-NL | Dutch (Netherlands) | ziekte van Krabbe pasgeborene screening panel: |
| pt-BR | Portuguese (Brazil) | Doença de Krabbe painel de triagem neonatal: |
| ru-RU | Russian (Russian Federation) | Краббе болезнь новорожденных скрининг панель: Synonyms: Кровь Кровь сухая капля Точка во времени; |
| zh-CN | Chinese (China) | 遗传性脑白质萎缩新生儿筛查组套: Synonyms: Asympt SCN 克拉伯病; |
62308-2 Krabbe disease newborn screen interpretation
Observation Required in Panel
Required
Fully-Specified Name
- Component
- Krabbe disease
- Property
- Imp
- Time
- Pt
- System
- Bld.dot
- Scale
- Nom
- Method
Additional Names
- Short Name
- Krabbe disease DBS-Imp
- Display Name
- Krabbe disease (DBS) [Interp]
- Consumer Name Alpha Get Info
- Krabbe disease, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.34
- Last Updated
- Version 2.56
- Change Reason
- Changed answer list from "Normative" to "Preferred" to fit the current LOINC model.
- Order vs. Observation
- Observation
Preferred Answer List LL840-0
| Answer | Code | Score | Answer ID |
|---|---|---|---|
| In range | LA18592-8 | ||
| Borderline | LA4259-3 | ||
| Indeterminate Copyright http://snomed.info/sct ID:82334004 Indeterminate (qualifier value) | LA11884-6 | ||
| Out of range | LA18593-6 | ||
| Out of range requiring further dried blood spot testing for at least one condition | LA12430-7 | ||
| Out of range requiring immediate referral | LA25817-0 | ||
| Out of range requiring immediate second-tier testing for at least one condition | LA12431-5 | ||
| Out of range requiring deferred follow-up for at least one condition | LA18594-4 | ||
| One or more tests pending | LA16204-2 | ||
| Specimen unsatisfactory for at least one condition | LA16205-9 |
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 62300-9 | Lysosomal storage disorders newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Enfermedad de Krabbe: |
| es-MX | Spanish (Mexico) | Enfermedad de Krabbe: |
| fr-CA | French (Canada) | Maladie de Krabbe: |
| fr-FR | French (France) | Maladie de Krabbe: |
| fr-BE | French (Belgium) | Maladie de Krabbe: |
| it-IT | Italian (Italy) | Malattia di Krabbe: Synonyms: Chimica Impressione/interpretazione di studio Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | ziekte van Krabbe: |
| pt-BR | Portuguese (Brazil) | Doença de Krabbe: |
| ru-RU | Russian (Russian Federation) | Краббе болезнь: Synonyms: Впечатление/интерпретация исследования Кровь Кровь сухая капля Номинальный; |
| tr-TR | Turkish (Turkey) | Krabbe hastalığı: |
| zh-CN | Chinese (China) | 遗传性脑白质萎缩: Synonyms: 克拉伯病; |
Third Party Copyright
This material includes SNOMED Clinical Terms® (SNOMED CT®) which is used by permission of the International Health Terminology Standards Development Organisation (IHTSDO) under license. All rights reserved. SNOMED CT® was originally created by The College of American Pathologists. "SNOMED" and "SNOMED CT" are registered trademarks of the IHTSDO.
This material includes content from the US Edition to SNOMED CT, which is developed and maintained by the U.S. National Library of Medicine and is available to authorized UMLS Metathesaurus Licensees from the UTS Downloads site at https://uts.nlm.nih.gov.
Use of SNOMED CT content is subject to the terms and conditions set forth in the SNOMED CT Affiliate License Agreement. It is the responsibility of those implementing this product to ensure they are appropriately licensed and for more information on the license, including how to register as an Affiliate Licensee, please refer to http://www.snomed.org/snomed-ct/get-snomed-ct or info@snomed.org<mailto:info@snomed.org>. This may incur a fee in SNOMED International non-Member countries.
62309-0 Krabbe disease newborn screening comment-discussion
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Krabbe disease newborn screening comment-discussion
- Property
- Txt
- Time
- Pt
- System
- Bld.dot
- Scale
- Nar
- Method
Additional Names
- Short Name
- Krabbe disease NBS comment
- Display Name
- Krabbe disease newborn screening comment-discussion Nar (DBS)
- Consumer Name Alpha Get Info
- Krabbe disease newborn screening comment-discussion, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.34
- Last Updated
- Version 2.42
- Order vs. Observation
- Observation
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 62300-9 | Lysosomal storage disorders newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Enfermedad de Krabbe screnning de recién nacidos comentario-discusión: |
| es-MX | Spanish (Mexico) | Comentario-discusión sobre la detección del recién nacido de la enfermedad de Krabbe: |
| fr-FR | French (France) | Maladie de Krabbe dépistage néonatal (commentaire-discussion): |
| fr-BE | French (Belgium) | Maladie de Krabbe Commentaires.screening néonatal.discussion: |
| it-IT | Italian (Italy) | Malattia di Krabbe, screening neonatale, commenti-discussione: Synonyms: Chimica Commento-discussione di screening neonatale per malattia di Krabbe Punto nel tempo (episodio) Sangue Spot sangue secco Testo |
| nl-NL | Dutch (Netherlands) | ziekte van Krabbe screening van pasgeborene commentaar-discussie: |
| pt-BR | Portuguese (Brazil) | Doença de Krabbe triagem neonatal comentários-discussão: |
| ru-RU | Russian (Russian Federation) | Краббе болезнь новорожденный скрининг комментарий-дискуссия: Synonyms: Кровь Кровь сухая капля Описательный Текст Точка во времени; |
| tr-TR | Turkish (Turkey) | Krabbe hastalığı yenidoğan tarama öneri-tartışma: |
| zh-CN | Chinese (China) | 遗传性脑白质萎缩 新生儿筛查注释-讨论: Synonyms: Asympt SCN 克拉伯病; |
62310-8 Galactosylceramidase [Enzymatic activity/volume] in DBS
Part Descriptions
LP14027-4 Galactosylceramidase
An enzyme that hydrolyzes galactose from ceramide monohexosides. Deficiency of this enzyme may cause globoid cell leukodystrophy (LEUKODYSTROPHY, GLOBOID CELL). EC 3.2.1.46.
Source: National Library of Medicine, MeSH 2006
Reference Information
| Type | Source | Reference |
|---|---|---|
| Article | National Library of Medicine | Wang RY, Bodamer OA, Watson MS, Wilcox WR; ACMG Work Group on Diagnostic Confirmation of Lysosomal Storage Diseases. Lysosomal storage diseases: diagnostic confirmation and management of presymptomatic individuals. Genet Med. 2011 May;13(5):457-84. [PMID: 21502868] Genet Med |
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Galactosylceramidase
- Property
- CCnc
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- GALC DBS-cCnc
- Display Name
- Galactosylceramidase (DBS) [Catalytic activity/Vol]
- Consumer Name Alpha Get Info
- Galactosylceramidase, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.34
- Last Updated
- Version 2.61
- Order vs. Observation
- Both
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 105458-4 | Lysosomal and peroxisomal storage disorders panel - DBS |
| 62300-9 | Lysosomal storage disorders newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Galactosilceramidasa: Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Galactosilceramidasa: |
| et-EE | Estonian (Estonia) | Galaktosüülkeramidaas: Synonyms: Juhuslik Kvantitatiivne Veri |
| fr-CA | French (Canada) | Galactosylcéramidase: |
| fr-FR | French (France) | Galactosylcéramidase: |
| fr-BE | French (Belgium) | Galactosylcéramidase: |
| it-IT | Italian (Italy) | Galattosilceramidasi: Synonyms: Chimica Concentrazione Catalitica Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | galactosylceramidase: |
| pt-BR | Portuguese (Brazil) | Galactocerebrosidase: |
| ru-RU | Russian (Russian Federation) | Галактозилцерамидаза: Synonyms: Каталитическая концентрация Количественный Кровь Кровь сухая капля Точка во времени; |
| tr-TR | Turkish (Turkey) | Galaktozilseramidaz: |
| zh-CN | Chinese (China) | 半乳糖苷神经酰胺酶: Synonyms: Beta-半乳糖脑苷沉积症; |
Example Units
| Unit | Source |
|---|---|
| umol/L/h | Example UCUM Units |
62311-6 Gaucher disease newborn screening panel
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Gaucher disease newborn screening panel
- Property
- -
- Time
- Pt
- System
- Bld.dot
- Scale
- -
- Method
Additional Names
- Short Name
- Gaucher disease NBS pnl DBS
- Display Name
- Gaucher disease NBS panel (DBS)
- Consumer Name Alpha Get Info
- Gaucher Disease NBS Panel, Dried blood spot
Basic Attributes
- Class
- PANEL.CHEM
- Type
- Laboratory
- First Released
- Version 2.34
- Last Updated
- Version 2.77
- Order vs. Observation
- Order
- Panel Type
- Panel
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 62300-9 | Lysosomal storage disorders newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Cribado de enfermedad de Gaucher recién nacido: |
| es-MX | Spanish (Mexico) | Panel de cribado neonatal de la enfermedad de Gaucher: |
| fr-FR | French (France) | Maladie de Gaucher dépistage néonatal panel: |
| it-IT | Italian (Italy) | Malattia di Gaucher, panel screening neonatale: Synonyms: Chimica Panel screening neonatale Panel screening neonatale per malattia di Gaucher Punto nel tempo (episodio) Sangue Set di prescrizione chimica Spot sangue secco |
| nl-NL | Dutch (Netherlands) | ziekte van Gaucher pasgeborene screening panel: |
| pt-BR | Portuguese (Brazil) | Doença de Gaucher painel de triagem neonatal: |
| ru-RU | Russian (Russian Federation) | Гоше болезнь новорожденных скрининг панель: Synonyms: Кровь Кровь сухая капля Точка во времени; |
| zh-CN | Chinese (China) | 戈谢病新生儿筛查组套: Synonyms: Asympt Gaucher 病; |
62312-4 Gaucher disease newborn screen interpretation
Observation Required in Panel
Required
Fully-Specified Name
- Component
- Gaucher disease
- Property
- Imp
- Time
- Pt
- System
- Bld.dot
- Scale
- Nom
- Method
Additional Names
- Short Name
- Gaucher disease DBS-Imp
- Display Name
- Gaucher disease (DBS) [Interp]
- Consumer Name Alpha Get Info
- Gaucher disease, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.34
- Last Updated
- Version 2.56
- Change Reason
- Changed answer list from "Normative" to "Preferred" to fit the current LOINC model.
- Order vs. Observation
- Observation
Preferred Answer List LL840-0
| Answer | Code | Score | Answer ID |
|---|---|---|---|
| In range | LA18592-8 | ||
| Borderline | LA4259-3 | ||
| Indeterminate Copyright http://snomed.info/sct ID:82334004 Indeterminate (qualifier value) | LA11884-6 | ||
| Out of range | LA18593-6 | ||
| Out of range requiring further dried blood spot testing for at least one condition | LA12430-7 | ||
| Out of range requiring immediate referral | LA25817-0 | ||
| Out of range requiring immediate second-tier testing for at least one condition | LA12431-5 | ||
| Out of range requiring deferred follow-up for at least one condition | LA18594-4 | ||
| One or more tests pending | LA16204-2 | ||
| Specimen unsatisfactory for at least one condition | LA16205-9 |
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 62300-9 | Lysosomal storage disorders newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Enfermedad de Gaucher: |
| es-MX | Spanish (Mexico) | Enfermedad de Gaucher: |
| fr-FR | French (France) | Maladie de Gaucher: |
| it-IT | Italian (Italy) | Malattia di Gaucher: Synonyms: Chimica Impressione/interpretazione di studio Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | ziekte van Gaucher: |
| pt-BR | Portuguese (Brazil) | Doença de Gaucher: |
| ru-RU | Russian (Russian Federation) | Гоше болезнь: Synonyms: Впечатление/интерпретация исследования Кровь Кровь сухая капля Номинальный; |
| tr-TR | Turkish (Turkey) | Gaucher hastalığı: |
| zh-CN | Chinese (China) | 戈谢病: Synonyms: Gaucher 病; |
Third Party Copyright
This material includes SNOMED Clinical Terms® (SNOMED CT®) which is used by permission of the International Health Terminology Standards Development Organisation (IHTSDO) under license. All rights reserved. SNOMED CT® was originally created by The College of American Pathologists. "SNOMED" and "SNOMED CT" are registered trademarks of the IHTSDO.
This material includes content from the US Edition to SNOMED CT, which is developed and maintained by the U.S. National Library of Medicine and is available to authorized UMLS Metathesaurus Licensees from the UTS Downloads site at https://uts.nlm.nih.gov.
Use of SNOMED CT content is subject to the terms and conditions set forth in the SNOMED CT Affiliate License Agreement. It is the responsibility of those implementing this product to ensure they are appropriately licensed and for more information on the license, including how to register as an Affiliate Licensee, please refer to http://www.snomed.org/snomed-ct/get-snomed-ct or info@snomed.org<mailto:info@snomed.org>. This may incur a fee in SNOMED International non-Member countries.
62313-2 Gaucher disease newborn screening comment-discussion
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Gaucher disease newborn screening comment-discussion
- Property
- Txt
- Time
- Pt
- System
- Bld.dot
- Scale
- Nar
- Method
Additional Names
- Short Name
- Gaucher disease NBS comment
- Display Name
- Gaucher disease newborn screening comment-discussion Nar (DBS)
- Consumer Name Alpha Get Info
- Gaucher disease newborn screening comment-discussion, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.34
- Last Updated
- Version 2.42
- Order vs. Observation
- Observation
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 62300-9 | Lysosomal storage disorders newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Enfermedad de Gaucher screnning de recién nacidos comentario-discusión: |
| es-MX | Spanish (Mexico) | Comentario-discusión sobre la detección del recién nacido de la enfermedad de Gaucher: |
| fr-FR | French (France) | Maladie de Gaucher dépistage néonatal (commentaire-discussion): |
| it-IT | Italian (Italy) | Malattia di Gaucher, screening neonatale, commenti-discussione: Synonyms: Chimica Commento-discussione di screening neonatale per malattia di Gaucher Punto nel tempo (episodio) Sangue Spot sangue secco Testo |
| nl-NL | Dutch (Netherlands) | ziekte van Gaucher screening van pasgeborene commentaar-discussie: |
| pt-BR | Portuguese (Brazil) | Doença de Gaucher triagem neonatal comentários-discussão: |
| ru-RU | Russian (Russian Federation) | Гоше болезнь новорожденный скрининг комментарий-дискуссия: Synonyms: Кровь Кровь сухая капля Описательный Текст Точка во времени; |
| tr-TR | Turkish (Turkey) | Gaucher hastalığı yenidoğan tarama öneri-tartışma: |
| zh-CN | Chinese (China) | 戈谢病 新生儿筛查注释-讨论: Synonyms: Asympt Gaucher 病; |
55917-9 Glucosylceramidase [Enzymatic activity/volume] in DBS
Part Descriptions
LP15604-9 Glucosylceramidase
A glycosidase that hydrolyzes a glucosylceramide to yield free ceramide plus glucose. Deficiency of this enzyme leads to abnormally high concentrations of glucosylceramide in the brain in GAUCHER DISEASE. EC 3.2.1.45.
Source: National Library of Medicine, MeSH 2006
Reference Information
| Type | Source | Reference |
|---|---|---|
| Article | National Library of Medicine | Wang RY, Bodamer OA, Watson MS, Wilcox WR; ACMG Work Group on Diagnostic Confirmation of Lysosomal Storage Diseases. Lysosomal storage diseases: diagnostic confirmation and management of presymptomatic individuals. Genet Med. 2011 May;13(5):457-84. [PMID: 21502868] Genet Med |
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Glucosylceramidase
- Property
- CCnc
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- Glucosylceramidase DBS-cCnc
- Display Name
- Glucosylceramidase (DBS) [Catalytic activity/Vol]
- Consumer Name Alpha Get Info
- Glucosylceramidase, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.29
- Last Updated
- Version 2.70
- Change Reason
- Updated Component from "Acid beta glucosidase" per the recommended nomenclature [UniProt: P04062]
- Order vs. Observation
- Both
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 105458-4 | Lysosomal and peroxisomal storage disorders panel - DBS |
| 62300-9 | Lysosomal storage disorders newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| de-DE | German (Germany) | Beta-Glucosidase: |
| es-ES | Spanish (Spain) | Glucosilceramidasa: Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Glucosilceramidasa: |
| et-EE | Estonian (Estonia) | Glükosüülkeramidaas: Synonyms: Juhuslik Kvantitatiivne Veri |
| fr-CA | French (Canada) | Glucosylcéramidase: |
| fr-FR | French (France) | Glucosylcéramidase: |
| fr-BE | French (Belgium) | Glucosylcéramidase: |
| it-IT | Italian (Italy) | Glucosilceramidasi: Synonyms: Chimica Concentrazione Catalitica Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | glucosylceramidase: |
| pl-PL | Polish (Poland) | Ceramidaza glukozylowa: Synonyms: Ceramidaza glukozylowa |
| pt-BR | Portuguese (Brazil) | Beta glucosidase: Synonyms: Glucoinvertase; |
| ru-RU | Russian (Russian Federation) | Глюкозилцерамидаза: Synonyms: Каталитическая концентрация Количественный Кровь Кровь сухая капля Точка во времени; |
| tr-TR | Turkish (Turkey) | Glukozilseramidaz: |
| zh-CN | Chinese (China) | 葡糖神经酰胺酶: Synonyms: Beta 葡糖脑苷脂酶; |
Example Units
| Unit | Source |
|---|---|
| umol/L/h | Example UCUM Units |
79563-3 Mucopolysaccharidosis type I newborn screening panel
Term Description
The Mucopolysaccharidosis type I (MPS I) newborn screening panel is used to report the results of newborn screening for the diagnosis of MPS I, also known as Hurler syndrome, an inherited disorder in which the body is unable to produce an enzyme that is involved in the breakdown of large sugar molecules called glycosaminoglycans (GAGs). MPS I is caused by mutations in the IDUA gene and has an autosomal recessive pattern of inheritance.
Source: Regenstrief LOINC
Fully-Specified Name
- Component
- Mucopolysaccharidosis type I newborn screening panel
- Property
- -
- Time
- Pt
- System
- Bld.dot
- Scale
- -
- Method
Additional Names
- Short Name
- MPS I NBS Pnl DBS
- Display Name
- Mucopolysaccharidosis type I NBS panel (DBS)
- Consumer Name Alpha Get Info
- Mucopolysaccharidosis Type I NBS Panel, Dried blood spot
Basic Attributes
- Class
- PANEL.CHEM
- Type
- Laboratory
- First Released
- Version 2.54
- Last Updated
- Version 2.77
- Order vs. Observation
- Order
- Panel Type
- Panel
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 62300-9 | Lysosomal storage disorders newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Panel de cribado neonatal Mucopolisacaridosis tipo I: |
| es-MX | Spanish (Mexico) | Panel de cribado neonatal de mucopolisacaridosis tipo I: |
| fr-FR | French (France) | Mucopolysaccharidoses type I dépistage néonatal panel: |
| it-IT | Italian (Italy) | Mucopolisaccaridosi tipologia 1 screening neonatale, panel: Synonyms: Chimica Panel Mucopolisaccaridosi tipologia 1 screening ne Panel screening neonatale Punto nel tempo (episodio) Sangue Set di prescrizione chimica Spot sangue secco |
| nl-NL | Dutch (Netherlands) | mucopolysaccharidose type I pasgeborene screening panel: Synonyms: MPS soort |
| zh-CN | Chinese (China) | 粘多糖贮积症 I 型新生儿筛查组套: Synonyms: Asympt I 型 SCN 全血斑点(滤纸); |
55909-6 Alpha-L-iduronidase [Enzymatic activity/volume] in DBS
Part Descriptions
LP14016-7 Alpha-L-iduronidase
Hurler syndrome, also known as mucopolysaccharidosis type I (MPS I), Hurler's disease or gargoylism, is a genetic disorder that results in the buildup of mucopolysaccharides due to a deficiency of alpha-L iduronidase, an enzyme responsible for the degradation of mucopolysaccharides in lysosomes. Without this enzyme, a buildup of heparan sulfate and dermatan sulfate occurs in the body. Symptoms appear during childhood and early death can occur due to organ damage.
Copyright Text is available under the Creative Commons Attribution/Share-Alike License. See http://creativecommons.org/licenses/by-sa/3.0/ for details.
Source: Wikipedia, Alpha-L iduronidase
Fully-Specified Name
- Component
- Alpha-L-iduronidase
- Property
- CCnc
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- A-L-Iduronidase DBS-cCnc
- Display Name
- Alpha-L-iduronidase (DBS) [Catalytic activity/Vol]
- Consumer Name Alpha Get Info
- Alpha-L-iduronidase, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.29
- Last Updated
- Version 2.70
- Order vs. Observation
- Both
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 105458-4 | Lysosomal and peroxisomal storage disorders panel - DBS |
| 62300-9 | Lysosomal storage disorders newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| de-AT | German (Austria) | Synonyms: Alpha-Iduronidase /BT |
| es-ES | Spanish (Spain) | Alfa-L-iduronidasa: Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Alfa-L-iduronidasa: |
| et-EE | Estonian (Estonia) | Alfa-L-iduronidaas: Synonyms: Juhuslik Kvantitatiivne Veri |
| fr-CA | French (Canada) | Alpha-L-iduronidase: |
| fr-FR | French (France) | Alpha L-idurodinase: |
| fr-BE | French (Belgium) | Alpha-L-iduronidase: |
| it-IT | Italian (Italy) | Alfa-L-iduronidasi: Synonyms: Chimica Concentrazione Catalitica Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | alfa-L-iduronidase: |
| pt-BR | Portuguese (Brazil) | Alfa-L-iduronidase: Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Альфа-L-идуронидазы: Synonyms: Каталитическая концентрация Количественный Кровь Кровь сухая капля Точка во времени; |
| tr-TR | Turkish (Turkey) | Alfa-L-iduronidaz: |
| zh-CN | Chinese (China) | Alpha-L-艾杜糖苷酶: Synonyms: Alpha-L-艾杜糖醛酸苷酶; |
Example Units
| Unit | Source |
|---|---|
| umol/h/L | Example UCUM Units |
79564-1 Mucopolysaccharidosis type I newborn screen interpretation
Term Description
This observation indicates whether the newborn screen was in-range or out-of-range for the analytes related to Mucopolysaccharidosis type I (MPS I).
Source: Regenstrief LOINC
Part Descriptions
LP203226-8 Mucopolysaccharidosis type I
Mucopolysaccharidosis type I (MPS I) is a condition that affects many parts of the body. This disorder was once divided into three separate syndromes: Hurler syndrome (MPS I-H), Hurler-Scheie syndrome (MPS I-H/S), and Scheie syndrome (MPS I-S), listed from most to least severe. Because there is so much overlap between each of these three syndromes, MPS I is currently divided into the severe and attenuated types. Mutations in the IDUA gene cause MPS I. The IDUA gene provides instructions for producing an enzyme that is involved in the breakdown of large sugar molecules called glycosaminoglycans (GAGs). GAGs were originally called mucopolysaccharides, which is where this condition gets its name. Mutations in the IDUA gene reduce or completely eliminate the function of the IDUA enzyme. The lack of IDUA enzyme activity leads to the accumulation of GAGs within cells, specifically inside the lysosomes. Lysosomes are compartments in the cell that digest and recycle different types of molecules. Conditions that cause molecules to build up inside the lysosomes, including MPS I, are called lysosomal storage disorders. The accumulation of GAGs increases the size of the lysosomes, which is why many tissues and organs are enlarged in this disorder. This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.[MedlinePlus Condition: mucopolysaccharidosis-type-i]
Source: Genetic Home Reference, National Library of Medicine
Fully-Specified Name
- Component
- Mucopolysaccharidosis type I
- Property
- Imp
- Time
- Pt
- System
- Bld.dot
- Scale
- Nom
- Method
Additional Names
- Short Name
- MPS I DBS-Imp
- Display Name
- Mucopolysaccharidosis type I (DBS) [Interp]
- Consumer Name Alpha Get Info
- Mucopolysaccharidosis Type I, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.54
- Last Updated
- Version 2.54
- Order vs. Observation
- Observation
Preferred Answer List LL840-0
| Answer | Code | Score | Answer ID |
|---|---|---|---|
| In range | LA18592-8 | ||
| Borderline | LA4259-3 | ||
| Indeterminate Copyright http://snomed.info/sct ID:82334004 Indeterminate (qualifier value) | LA11884-6 | ||
| Out of range | LA18593-6 | ||
| Out of range requiring further dried blood spot testing for at least one condition | LA12430-7 | ||
| Out of range requiring immediate referral | LA25817-0 | ||
| Out of range requiring immediate second-tier testing for at least one condition | LA12431-5 | ||
| Out of range requiring deferred follow-up for at least one condition | LA18594-4 | ||
| One or more tests pending | LA16204-2 | ||
| Specimen unsatisfactory for at least one condition | LA16205-9 |
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 62300-9 | Lysosomal storage disorders newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Mucopolisacaridosis tipo I: |
| es-MX | Spanish (Mexico) | Mucopolisacaridosis tipo I: |
| fr-FR | French (France) | Mucopolysaccharidose type 1: |
| it-IT | Italian (Italy) | Mucopolisaccaridosi tipologia 1: Synonyms: Chimica Impressione/interpretazione di studio Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | mucopolysaccharidose type I: Synonyms: MPS soort |
| tr-TR | Turkish (Turkey) | Mukopolisakkaridozis tip I: |
| zh-CN | Chinese (China) | 粘多糖贮积症 I 型: Synonyms: I 型 全血斑点(滤纸); |
Third Party Copyright
This material includes SNOMED Clinical Terms® (SNOMED CT®) which is used by permission of the International Health Terminology Standards Development Organisation (IHTSDO) under license. All rights reserved. SNOMED CT® was originally created by The College of American Pathologists. "SNOMED" and "SNOMED CT" are registered trademarks of the IHTSDO.
This material includes content from the US Edition to SNOMED CT, which is developed and maintained by the U.S. National Library of Medicine and is available to authorized UMLS Metathesaurus Licensees from the UTS Downloads site at https://uts.nlm.nih.gov.
Use of SNOMED CT content is subject to the terms and conditions set forth in the SNOMED CT Affiliate License Agreement. It is the responsibility of those implementing this product to ensure they are appropriately licensed and for more information on the license, including how to register as an Affiliate Licensee, please refer to http://www.snomed.org/snomed-ct/get-snomed-ct or info@snomed.org<mailto:info@snomed.org>. This may incur a fee in SNOMED International non-Member countries.
79565-8 Mucopolysaccharidosis type I newborn screening comment-discussion
Part Descriptions
LP203226-8 Mucopolysaccharidosis type I
Mucopolysaccharidosis type I (MPS I) is a condition that affects many parts of the body. This disorder was once divided into three separate syndromes: Hurler syndrome (MPS I-H), Hurler-Scheie syndrome (MPS I-H/S), and Scheie syndrome (MPS I-S), listed from most to least severe. Because there is so much overlap between each of these three syndromes, MPS I is currently divided into the severe and attenuated types. Mutations in the IDUA gene cause MPS I. The IDUA gene provides instructions for producing an enzyme that is involved in the breakdown of large sugar molecules called glycosaminoglycans (GAGs). GAGs were originally called mucopolysaccharides, which is where this condition gets its name. Mutations in the IDUA gene reduce or completely eliminate the function of the IDUA enzyme. The lack of IDUA enzyme activity leads to the accumulation of GAGs within cells, specifically inside the lysosomes. Lysosomes are compartments in the cell that digest and recycle different types of molecules. Conditions that cause molecules to build up inside the lysosomes, including MPS I, are called lysosomal storage disorders. The accumulation of GAGs increases the size of the lysosomes, which is why many tissues and organs are enlarged in this disorder. This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.[MedlinePlus Condition: mucopolysaccharidosis-type-i]
Source: Genetic Home Reference, National Library of Medicine
Fully-Specified Name
- Component
- Mucopolysaccharidosis type I newborn screening comment-discussion
- Property
- Txt
- Time
- Pt
- System
- Bld.dot
- Scale
- Nar
- Method
Additional Names
- Short Name
- MPS I NBS comment
- Display Name
- Mucopolysaccharidosis type I newborn screening comment-discussion Nar (DBS)
- Consumer Name Alpha Get Info
- Mucopolysaccharidosis Type I newborn screening comment-discussion, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.54
- Last Updated
- Version 2.54
- Order vs. Observation
- Observation
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 62300-9 | Lysosomal storage disorders newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Mucopolisacaridosis tipo I screnning de recién nacidos comentario-discusión: |
| es-MX | Spanish (Mexico) | Mucopolisacaridosis tipo I cribado neonatal comentario-discusión: |
| fr-FR | French (France) | Mucopolysaccharidose type 1 dépistage nouveau né commentaire-discussion: |
| it-IT | Italian (Italy) | Mucopolisaccaridosi tipologia 1, screening neonatale, commenti-discussione: Synonyms: Chimica Punto nel tempo (episodio) Sangue Spot sangue secco Testo |
| nl-NL | Dutch (Netherlands) | mucopolysaccharidose type I screening van pasgeborene commentaar-discussie: Synonyms: MPS soort |
| tr-TR | Turkish (Turkey) | Mukopolisakkaridozis tip I yenidoğan tarama öneri-tartışma: |
| zh-CN | Chinese (China) | 粘多糖贮积症 I 型 新生儿筛查注释-讨论: Synonyms: Asympt I 型 SCN 全血斑点(滤纸); |
62315-7 Niemann Pick disease A/B newborn screening panel
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Niemann Pick disease A+B newborn screening panel
- Property
- -
- Time
- Pt
- System
- Bld.dot
- Scale
- -
- Method
Additional Names
- Short Name
- Niemann Pick disease A/B NBS pnl DBS
- Display Name
- Niemann Pick disease A/B NBS panel (DBS)
- Consumer Name Alpha Get Info
- Niemann Pick Disease A/B NBS Panel, Dried blood spot
Basic Attributes
- Class
- PANEL.CHEM
- Type
- Laboratory
- First Released
- Version 2.34
- Last Updated
- Version 2.77
- Order vs. Observation
- Order
- Panel Type
- Panel
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 62300-9 | Lysosomal storage disorders newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Cribado de enfermedad de Niemann Pick A+B en recién nacido: |
| es-MX | Spanish (Mexico) | Panel de cribado neonatal de enfermedad de Niemann Pick A + B: |
| fr-FR | French (France) | Maladie de Niemann Pick A+B dépistage néonatal panel: |
| it-IT | Italian (Italy) | Malattia di Niemann Pick A+B, panel screening neonatale: Synonyms: Chimica Malattia di Niemann Pick A/B Panel screening neonatale Panel screening neonatale per malattia di Niemann Punto nel tempo (episodio) Sangue Set di prescrizione chimica Spot sangue secco |
| nl-NL | Dutch (Netherlands) | ziekte van Niemann Pick A+B pasgeborene screening panel: |
| pt-BR | Portuguese (Brazil) | Doença de Niemann Pick A+B painel de triagem neonatal: |
| ru-RU | Russian (Russian Federation) | Ниманн-Пик болезнь A+B новорождённый скрининг панель: Synonyms: Кровь Кровь сухая капля Точка во времени; |
| zh-CN | Chinese (China) | 尼曼-匹克病 A+B 新生儿筛查组套: Synonyms: A 型 A,B 型; |
62318-1 Niemann Pick disease A/B newborn screen interpretation
Observation Required in Panel
Required
Fully-Specified Name
- Component
- Niemann Pick disease A+B
- Property
- Imp
- Time
- Pt
- System
- Bld.dot
- Scale
- Nom
- Method
Additional Names
- Short Name
- Niemann Pick disease A/B DBS-Imp
- Display Name
- Niemann Pick disease A/B (DBS) [Interp]
- Consumer Name Alpha Get Info
- Niemann pick disease a/B, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.34
- Last Updated
- Version 2.56
- Change Reason
- Changed answer list from "Normative" to "Preferred" to fit the current LOINC model.
- Order vs. Observation
- Observation
Preferred Answer List LL840-0
| Answer | Code | Score | Answer ID |
|---|---|---|---|
| In range | LA18592-8 | ||
| Borderline | LA4259-3 | ||
| Indeterminate Copyright http://snomed.info/sct ID:82334004 Indeterminate (qualifier value) | LA11884-6 | ||
| Out of range | LA18593-6 | ||
| Out of range requiring further dried blood spot testing for at least one condition | LA12430-7 | ||
| Out of range requiring immediate referral | LA25817-0 | ||
| Out of range requiring immediate second-tier testing for at least one condition | LA12431-5 | ||
| Out of range requiring deferred follow-up for at least one condition | LA18594-4 | ||
| One or more tests pending | LA16204-2 | ||
| Specimen unsatisfactory for at least one condition | LA16205-9 |
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 62300-9 | Lysosomal storage disorders newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Enfermedad de Niemann-Pick A+B: |
| es-MX | Spanish (Mexico) | Enfermedad de Niemann Pick A + B: |
| fr-CA | French (Canada) | Maladie de Niemann Pick A+B: |
| fr-FR | French (France) | Maladie de Niemann Pick A+B: |
| fr-BE | French (Belgium) | Maladie de Niemann Pick A+B: |
| it-IT | Italian (Italy) | Malattia di Niemann Pick A+B: Synonyms: Chimica Impressione/interpretazione di studio Malattia di Niemann Pick A/B Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | ziekte van Niemann Pick A+B: |
| ru-RU | Russian (Russian Federation) | Ниманна-Пика болезнь A+B: Synonyms: Впечатление/интерпретация исследования Кровь Кровь сухая капля Номинальный; |
| tr-TR | Turkish (Turkey) | Niemann Pick hastalığı A+B: |
| zh-CN | Chinese (China) | 尼曼-匹克病 A+B: Synonyms: A 型 A,B 型; |
Third Party Copyright
This material includes SNOMED Clinical Terms® (SNOMED CT®) which is used by permission of the International Health Terminology Standards Development Organisation (IHTSDO) under license. All rights reserved. SNOMED CT® was originally created by The College of American Pathologists. "SNOMED" and "SNOMED CT" are registered trademarks of the IHTSDO.
This material includes content from the US Edition to SNOMED CT, which is developed and maintained by the U.S. National Library of Medicine and is available to authorized UMLS Metathesaurus Licensees from the UTS Downloads site at https://uts.nlm.nih.gov.
Use of SNOMED CT content is subject to the terms and conditions set forth in the SNOMED CT Affiliate License Agreement. It is the responsibility of those implementing this product to ensure they are appropriately licensed and for more information on the license, including how to register as an Affiliate Licensee, please refer to http://www.snomed.org/snomed-ct/get-snomed-ct or info@snomed.org<mailto:info@snomed.org>. This may incur a fee in SNOMED International non-Member countries.
62319-9 Niemann Pick disease A/B newborn screening comment-discussion
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Niemann Pick disease A+B newborn screening comment-discussion
- Property
- Txt
- Time
- Pt
- System
- Bld.dot
- Scale
- Nar
- Method
Additional Names
- Short Name
- Niemann Pick disease A/B NBS comment
- Display Name
- Niemann Pick disease A/B newborn screening comment-discussion Nar (DBS)
- Consumer Name Alpha Get Info
- Niemann pick disease a/B newborn screening comment-discussion, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.34
- Last Updated
- Version 2.42
- Order vs. Observation
- Observation
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 62300-9 | Lysosomal storage disorders newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Enfermedad de Niemann-Pick A+B screnning de recién nacidos comentario-discusión: |
| es-MX | Spanish (Mexico) | Discusión de comentario sobre detección neonatal A + B de enfermedad de Niemann Pick: |
| fr-FR | French (France) | Maladie de Niemann Pick A+B dépistage néonatal (commentaire-discussion): |
| fr-BE | French (Belgium) | Maladie de Niemann Pick A+B Commentaires.screening néonatal.discussion: |
| it-IT | Italian (Italy) | Malattia di Niemann Pick A+B, screening neonatale, commenti-discussione: Synonyms: Chimica Commento-discussione di screening neonatale per malattia di Niemann Pick A/B Malattia di Niemann Pick A/B Punto nel tempo (episodio) Sangue Spot sangue secco Testo |
| nl-NL | Dutch (Netherlands) | ziekte van Niemann Pick A+B screening van pasgeborene commentaar-discussie: |
| ru-RU | Russian (Russian Federation) | Ниманна-Пика болезнь A+B новорожденный скрининг комментарий-дискуссия: Synonyms: Кровь Кровь сухая капля Описательный Текст Точка во времени; |
| tr-TR | Turkish (Turkey) | Niemann Pick hastalığı A+B yenidoğan tarama öneri-tartışma: |
| zh-CN | Chinese (China) | 尼曼-匹克病 A+B 新生儿筛查注释-讨论: Synonyms: A 型 A,B 型; |
62316-5 Acid sphingomyelinase [Enzymatic activity/volume] in DBS
Part Descriptions
LP14035-7 Acid sphingomyelinase
Sphingomyelin phosphodiesterase or simply Sphingomyelinase (SMase) is a hydrolase enzyme that is involved in sphingolipid metabolism reactions. SMase is a member of the DNase I superfamily of enzymes and is responsible for breaking sphingomyelin (SM) down into phosphocholine and ceramide. The activation of SMase has been suggested as a major route for the production of ceramide in response to cellular stresses.
Copyright Text is available under the Creative Commons Attribution/Share-Alike License. See http://creativecommons.org/licenses/by-sa/3.0/ for details.
Source: Wikipedia, Wikipedia
Reference Information
| Type | Source | Reference |
|---|---|---|
| Article | National Library of Medicine | Wang RY, Bodamer OA, Watson MS, Wilcox WR; ACMG Work Group on Diagnostic Confirmation of Lysosomal Storage Diseases. Lysosomal storage diseases: diagnostic confirmation and management of presymptomatic individuals. Genet Med. 2011 May;13(5):457-84. [PMID: 21502868] Genet Med |
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Acid sphingomyelinase
- Property
- CCnc
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- Acid sphingomyelinase DBS-cCnc
- Display Name
- Acid sphingomyelinase (DBS) [Catalytic activity/Vol]
- Consumer Name Alpha Get Info
- Acid sphingomyelinase, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.34
- Last Updated
- Version 2.61
- Order vs. Observation
- Both
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 105458-4 | Lysosomal and peroxisomal storage disorders panel - DBS |
| 62300-9 | Lysosomal storage disorders newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| de-AT | German (Austria) | Synonyms: Sphingomyelinase /BT |
| es-ES | Spanish (Spain) | Esfingomielinasa ácida: Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Esfingomielinasa ácida: |
| et-EE | Estonian (Estonia) | Sfingomüelinaas: Synonyms: Juhuslik Kvantitatiivne Veri |
| fr-CA | French (Canada) | Acide sphingomyélinase: |
| fr-FR | French (France) | Sphingomyélinase acide: |
| fr-BE | French (Belgium) | Sphingomyélinase acide: |
| it-IT | Italian (Italy) | Sfingomielinasi acida: Synonyms: Chimica Concentrazione Catalitica Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | zure sfingomyelinase: |
| pt-BR | Portuguese (Brazil) | Ácido esfingomielinase: |
| ru-RU | Russian (Russian Federation) | Кислая сфингомиелиназа: Synonyms: Каталитическая концентрация Количественный Кровь Кровь сухая капля Точка во времени; |
| tr-TR | Turkish (Turkey) | Asit sfingomiyelinaz: |
| zh-CN | Chinese (China) | 神经磷脂酶: Synonyms: A 型和 B 型 Niemann-Pick 病; |
Example Units
| Unit | Source |
|---|---|
| umol/L/h | Example UCUM Units |
63414-7 Pompe disease newborn screening panel
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Pompe disease newborn screening panel
- Property
- -
- Time
- Pt
- System
- Bld.dot
- Scale
- -
- Method
Additional Names
- Short Name
- Pompe disease NBS pnl DBS
- Display Name
- Pompe disease NBS panel (DBS)
- Consumer Name Alpha Get Info
- Pompe Disease NBS Panel, Dried blood spot
Basic Attributes
- Class
- PANEL.CHEM
- Type
- Laboratory
- First Released
- Version 2.36
- Last Updated
- Version 2.77
- Order vs. Observation
- Order
- Panel Type
- Panel
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 62300-9 | Lysosomal storage disorders newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Panel screening de la enfermedad de Pompe en recien nacidos: |
| es-MX | Spanish (Mexico) | Panel de cribado neonatal de la enfermedad de Pompe: |
| fr-FR | French (France) | Maladie de Pompe dépistage néonatal panel: |
| it-IT | Italian (Italy) | Morbo di Pompe, panel screening neonatale: Synonyms: Chimica Panel screening neonatale Panel screening neonatale per morbo di Pompe Punto nel tempo (episodio) Sangue Set di prescrizione chimica Spot sangue secco |
| nl-NL | Dutch (Netherlands) | ziekte van Pompe pasgeborene screening panel: |
| ru-RU | Russian (Russian Federation) | Помпе болезнь новорожденных скрининг панель: Synonyms: Кровь Кровь сухая капля Точка во времени; |
| zh-CN | Chinese (China) | 庞贝病新生儿筛查组套: Synonyms: Ⅱ型糖原累积病; |
63415-4 Pompe disease newborn screen interpretation
Observation Required in Panel
Required
Fully-Specified Name
- Component
- Pompe disease
- Property
- Imp
- Time
- Pt
- System
- Bld.dot
- Scale
- Nom
- Method
Additional Names
- Short Name
- Pompe disease DBS-Imp
- Display Name
- Pompe disease (DBS) [Interp]
- Consumer Name Alpha Get Info
- Pompe disease, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.36
- Last Updated
- Version 2.56
- Change Reason
- Changed answer list from "Normative" to "Preferred" to fit the current LOINC model.
- Order vs. Observation
- Observation
Preferred Answer List LL840-0
| Answer | Code | Score | Answer ID |
|---|---|---|---|
| In range | LA18592-8 | ||
| Borderline | LA4259-3 | ||
| Indeterminate Copyright http://snomed.info/sct ID:82334004 Indeterminate (qualifier value) | LA11884-6 | ||
| Out of range | LA18593-6 | ||
| Out of range requiring further dried blood spot testing for at least one condition | LA12430-7 | ||
| Out of range requiring immediate referral | LA25817-0 | ||
| Out of range requiring immediate second-tier testing for at least one condition | LA12431-5 | ||
| Out of range requiring deferred follow-up for at least one condition | LA18594-4 | ||
| One or more tests pending | LA16204-2 | ||
| Specimen unsatisfactory for at least one condition | LA16205-9 |
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 62300-9 | Lysosomal storage disorders newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Enfermedad de Pompe: |
| es-MX | Spanish (Mexico) | Enfermedad de Pompe: |
| fr-FR | French (France) | Maladie de Pompe: |
| it-IT | Italian (Italy) | Morbo di Pompe: Synonyms: Chimica Impressione/interpretazione di studio Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | ziekte van Pompe: |
| ru-RU | Russian (Russian Federation) | Помпе болезнь: Synonyms: Впечатление/интерпретация исследования Кровь Кровь сухая капля Номинальный; |
| tr-TR | Turkish (Turkey) | Pompe hastalığı: |
| zh-CN | Chinese (China) | 庞贝病: Synonyms: Ⅱ型糖原累积病; |
Third Party Copyright
This material includes SNOMED Clinical Terms® (SNOMED CT®) which is used by permission of the International Health Terminology Standards Development Organisation (IHTSDO) under license. All rights reserved. SNOMED CT® was originally created by The College of American Pathologists. "SNOMED" and "SNOMED CT" are registered trademarks of the IHTSDO.
This material includes content from the US Edition to SNOMED CT, which is developed and maintained by the U.S. National Library of Medicine and is available to authorized UMLS Metathesaurus Licensees from the UTS Downloads site at https://uts.nlm.nih.gov.
Use of SNOMED CT content is subject to the terms and conditions set forth in the SNOMED CT Affiliate License Agreement. It is the responsibility of those implementing this product to ensure they are appropriately licensed and for more information on the license, including how to register as an Affiliate Licensee, please refer to http://www.snomed.org/snomed-ct/get-snomed-ct or info@snomed.org<mailto:info@snomed.org>. This may incur a fee in SNOMED International non-Member countries.
63416-2 Pompe disease newborn screening comment-discussion
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Pompe disease newborn screening comment-discussion
- Property
- Txt
- Time
- Pt
- System
- Bld.dot
- Scale
- Nar
- Method
Additional Names
- Short Name
- Pompe disease NBS comment
- Display Name
- Pompe disease newborn screening comment-discussion Nar (DBS)
- Consumer Name Alpha Get Info
- Pompe disease newborn screening comment-discussion, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.36
- Last Updated
- Version 2.42
- Order vs. Observation
- Observation
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 62300-9 | Lysosomal storage disorders newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Enfermedad de Pompe screnning de recién nacidos comentario-discusión: |
| es-MX | Spanish (Mexico) | Comentario-discusión del cribado neonatal de la enfermedad de Pompe: |
| fr-FR | French (France) | Maladie de Pompe dépistage néonatal (commentaire-discussion): |
| it-IT | Italian (Italy) | Morbo di Pompe, screening neonatale, commenti-discussione: Synonyms: Chimica Commento-discussione di screening neonatale per morbo di Pompe Punto nel tempo (episodio) Sangue Spot sangue secco Testo |
| nl-NL | Dutch (Netherlands) | ziekte van Pompe screening van pasgeborene commentaar-discussie: |
| ru-RU | Russian (Russian Federation) | Помпе болезнь новорожденный скрининг комментарий-дискуссия: Synonyms: Кровь Кровь сухая капля Описательный Текст Точка во времени; |
| tr-TR | Turkish (Turkey) | Pompe hastalığı yenidoğan tarama öneri-tartışma: |
| zh-CN | Chinese (China) | 庞贝病 新生儿筛查注释-讨论: Synonyms: Ⅱ型糖原累积病; |
55827-0 Acid alpha glucosidase [Enzymatic activity/volume] in DBS
Term Description
This is a newborn screening test to detect enzymatic activity in dried blood spot to screen for Pompe disease, which is an inherited disorder caused by the buildup of a complex sugar called glycogen in the body's cells. The accumulation of glycogen in certain organs and tissues, especially in muscles, impairs their ability to function normally. Major features of Pompe disease include muscle weakness, heart abnormalities, and breathing problems. This disorder is caused by mutations in the GAA gene; it has an autosomal recessive pattern of inheritance.
Source: Regenstrief LOINC
Part Descriptions
LP14013-4 Acid alpha glucosidase
Alpha (A) glucosidase is an enzyme found in tissue fibroblasts that is useful for delineatig the reason for muscle wasting and ruling out Pompe's disease.
Source: Regenstrief Institute
Reference Information
| Type | Source | Reference |
|---|---|---|
| Article | National Library of Medicine | Wang RY, Bodamer OA, Watson MS, Wilcox WR; ACMG Work Group on Diagnostic Confirmation of Lysosomal Storage Diseases. Lysosomal storage diseases: diagnostic confirmation and management of presymptomatic individuals. Genet Med. 2011 May;13(5):457-84. [PMID: 21502868] Genet Med |
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Acid alpha glucosidase
- Property
- CCnc
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- Acid A-Glucosidase DBS-cCnc
- Display Name
- Acid alpha glucosidase (DBS) [Catalytic activity/Vol]
- Consumer Name Alpha Get Info
- Acid alpha glucosidase, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.29
- Last Updated
- Version 2.70
- Order vs. Observation
- Both
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 105458-4 | Lysosomal and peroxisomal storage disorders panel - DBS |
| 62300-9 | Lysosomal storage disorders newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| de-AT | German (Austria) | Synonyms: Alpha-Glucosidase /BT |
| es-ES | Spanish (Spain) | Alfa glucoxidasa: Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Alfa glucosidasa ácida: |
| et-EE | Estonian (Estonia) | Alfaglükosidaas: Synonyms: Juhuslik Kvantitatiivne Veri |
| fr-CA | French (Canada) | Alpha-glucosidase acide: |
| fr-FR | French (France) | Alpha glucosidase acide: |
| fr-BE | French (Belgium) | Alpha glucosidase acide: |
| it-IT | Italian (Italy) | Acido alfa glucosidasi: Synonyms: Chimica Concentrazione Catalitica Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | zure alfa-glucosidase: |
| pl-PL | Polish (Poland) | Kwaśna alfa-glukozydaza: Synonyms: Glukozydaza Kwaśna alfa-glukozydaza |
| pt-BR | Portuguese (Brazil) | Alfa glucosidase: Synonyms: Glucoinvertase; |
| ru-RU | Russian (Russian Federation) | Кислая альфа глюкозидаза: Synonyms: Каталитическая концентрация Количественный Кровь Кровь сухая капля Точка во времени; |
| tr-TR | Turkish (Turkey) | Asit alfa glukozidaz: |
| zh-CN | Chinese (China) | Alpha 葡糖苷酶: Synonyms: Alpha 葡萄糖苷酶; |
Example Units
| Unit | Source |
|---|---|
| umol/L/h | Example UCUM Units |
62333-0 Severe combined immunodeficiency (SCID) newborn screening panel
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Severe combined immunodeficiency (SCID) newborn screening panel
- Property
- -
- Time
- Pt
- System
- Bld.dot
- Scale
- -
- Method
Additional Names
- Short Name
- SCID NBS pnl DBS
- Display Name
- Severe combined immunodeficiency (SCID) NBS panel (DBS)
- Consumer Name Alpha Get Info
- Severe Combined Immunodeficiency (SCID) NBS Panel, Dried blood spot
Basic Attributes
- Class
- PANEL.CHEM
- Type
- Laboratory
- First Released
- Version 2.34
- Last Updated
- Version 2.77
- Order vs. Observation
- Order
- Common Test Rank Get Info
- 2081
- Panel Type
- Panel
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Cribado de Inmunodeficiencia combinada severa (SCID) en recién nacido: |
| es-MX | Spanish (Mexico) | Panel de cribado neonatal de inmunodeficiencia combinada grave (SCID): |
| fr-FR | French (France) | Immunodéficience sévère associée dépistage néonatal panel: |
| it-IT | Italian (Italy) | Immunodeficienza combinata grave (SCID), panel screening neonatale: Synonyms: Chimica Panel screening neonatale Panel screening neonatale per immunodeficienza com Punto nel tempo (episodio) Sangue Set di prescrizione chimica Spot sangue secco |
| nl-NL | Dutch (Netherlands) | ernstige gecombineerde immunodeficiëntie (SCID) pasgeborene screening panel: Synonyms: ernstige gecombineerde immunodeficientie ernstige gecombineerde immunodeficientie (SCID) pasgeborene screening panel |
| ru-RU | Russian (Russian Federation) | Тяжелый комбинированный иммунодефицит (ТКИД) новорождённых скрининга панель: Synonyms: Кровь Кровь сухая капля Точка во времени; |
| zh-CN | Chinese (China) | 严重联合免疫缺陷 (SCID) 新生儿筛查组套: Synonyms: Asympt SCN 严重联合免疫缺陷 (SCID) 新生儿（NB）筛查（筛选、 |
62321-5 Severe combined immunodeficiency newborn screen interpretation
Part Descriptions
LP111254-1 Severe combined immunodeficiency
Severe combined immunodeficiency (SCID), or Bubble Boy Syndrome, (also known as "Alymphocytosis," "Glanzmann-Riniker syndrome," "Severe mixed immunodeficiency syndrome," and "Thymic alymphoplasia" is a genetic disorder in which both "arms" (B cells and T cells) of the adaptive immune system are crippled, due to a defect in one of several possible genes. SCID is a severe form of heritable immunodeficiency. It is also known as the "bubble boy" disease because its victims are extremely vulnerable to infectious diseases and some of them, such as David Vetter, become famous for living in a sterile environment. SCID is the effect of a highly compromised, so much it is almost considered absent, immune system. The gene mutations that cause SCID are not just for the disorder. The buildup of dATP, which induces the cell to make cytochrome c, destroys and signals for apoptosis in all rapidly proliferating cells. This includes cells in the GI tract, immune system lymphocytes, and sperm cells.
Chronic diarrhoea, ear infections, recurrent Pneumocystis jirovecii pneumonia, and profuse oral candidiasis commonly occur. These babies, if untreated, usually die within 1 year due to severe, recurrent infections unless they have undergone successful Hematopoietic stem cell transplantation.
Copyright Text is available under the Creative Commons Attribution/Share-Alike License. See http://creativecommons.org/licenses/by-sa/3.0/ for details.
Source: Wikipedia, Wikipedia
Observation Required in Panel
Required
Fully-Specified Name
- Component
- Severe combined immunodeficiency
- Property
- Imp
- Time
- Pt
- System
- Bld.dot
- Scale
- Nom
- Method
Additional Names
- Short Name
- SCID DBS-Imp
- Display Name
- Severe combined immunodeficiency (DBS) [Interp]
- Consumer Name Alpha Get Info
- Severe combined immunodeficiency, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.34
- Last Updated
- Version 2.73
- Change Reason
- Changed answer list from "Normative" to"Preferred" to fit the current LOINC model.
- Order vs. Observation
- Observation
- Common Test Rank Get Info
- 14230
Preferred Answer List LL840-0
| Answer | Code | Score | Answer ID |
|---|---|---|---|
| In range | LA18592-8 | ||
| Borderline | LA4259-3 | ||
| Indeterminate Copyright http://snomed.info/sct ID:82334004 Indeterminate (qualifier value) | LA11884-6 | ||
| Out of range | LA18593-6 | ||
| Out of range requiring further dried blood spot testing for at least one condition | LA12430-7 | ||
| Out of range requiring immediate referral | LA25817-0 | ||
| Out of range requiring immediate second-tier testing for at least one condition | LA12431-5 | ||
| Out of range requiring deferred follow-up for at least one condition | LA18594-4 | ||
| One or more tests pending | LA16204-2 | ||
| Specimen unsatisfactory for at least one condition | LA16205-9 |
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
| 62333-0 | Severe combined immunodeficiency (SCID) newborn screening panel |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Inmunodeficiencia combinada severa: |
| es-MX | Spanish (Mexico) | Inmunodeficiencia combinada grave: |
| fr-FR | French (France) | Immunodéficience sévère associée: |
| fr-BE | French (Belgium) | Immunodéficience combinée sévère: |
| it-IT | Italian (Italy) | Immunodeficienza combinata grave: Synonyms: Chimica Impressione/interpretazione di studio Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | ernstige gecombineerde immunodeficiëntie: Synonyms: ernstige gecombineerde immunodeficientie |
| ru-RU | Russian (Russian Federation) | Тяжелый комбинированный иммунодефицит: Synonyms: Впечатление/интерпретация исследования Кровь Кровь сухая капля Номинальный; |
| tr-TR | Turkish (Turkey) | Ciddi kombine immun bozukluk: |
| zh-CN | Chinese (China) | 严重联合免疫缺陷: Synonyms: 严重联合免疫缺陷病; |
Third Party Copyright
This material includes SNOMED Clinical Terms® (SNOMED CT®) which is used by permission of the International Health Terminology Standards Development Organisation (IHTSDO) under license. All rights reserved. SNOMED CT® was originally created by The College of American Pathologists. "SNOMED" and "SNOMED CT" are registered trademarks of the IHTSDO.
This material includes content from the US Edition to SNOMED CT, which is developed and maintained by the U.S. National Library of Medicine and is available to authorized UMLS Metathesaurus Licensees from the UTS Downloads site at https://uts.nlm.nih.gov.
Use of SNOMED CT content is subject to the terms and conditions set forth in the SNOMED CT Affiliate License Agreement. It is the responsibility of those implementing this product to ensure they are appropriately licensed and for more information on the license, including how to register as an Affiliate Licensee, please refer to http://www.snomed.org/snomed-ct/get-snomed-ct or info@snomed.org<mailto:info@snomed.org>. This may incur a fee in SNOMED International non-Member countries.
62322-3 Severe combined immunodeficiency newborn screening comment-discussion
Part Descriptions
LP111254-1 Severe combined immunodeficiency
Severe combined immunodeficiency (SCID), or Bubble Boy Syndrome, (also known as "Alymphocytosis," "Glanzmann-Riniker syndrome," "Severe mixed immunodeficiency syndrome," and "Thymic alymphoplasia" is a genetic disorder in which both "arms" (B cells and T cells) of the adaptive immune system are crippled, due to a defect in one of several possible genes. SCID is a severe form of heritable immunodeficiency. It is also known as the "bubble boy" disease because its victims are extremely vulnerable to infectious diseases and some of them, such as David Vetter, become famous for living in a sterile environment. SCID is the effect of a highly compromised, so much it is almost considered absent, immune system. The gene mutations that cause SCID are not just for the disorder. The buildup of dATP, which induces the cell to make cytochrome c, destroys and signals for apoptosis in all rapidly proliferating cells. This includes cells in the GI tract, immune system lymphocytes, and sperm cells.
Chronic diarrhoea, ear infections, recurrent Pneumocystis jirovecii pneumonia, and profuse oral candidiasis commonly occur. These babies, if untreated, usually die within 1 year due to severe, recurrent infections unless they have undergone successful Hematopoietic stem cell transplantation.
Copyright Text is available under the Creative Commons Attribution/Share-Alike License. See http://creativecommons.org/licenses/by-sa/3.0/ for details.
Source: Wikipedia, Wikipedia
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Severe combined immunodeficiency newborn screening comment-discussion
- Property
- Txt
- Time
- Pt
- System
- Bld.dot
- Scale
- Nar
- Method
Additional Names
- Short Name
- SCID NBS comment
- Display Name
- Severe combined immunodeficiency newborn screening comment-discussion Nar (DBS)
- Consumer Name Alpha Get Info
- Severe combined immunodeficiency newborn screening comment-discussion, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.34
- Last Updated
- Version 2.73
- Order vs. Observation
- Observation
- Common Test Rank Get Info
- 18235
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
| 62333-0 | Severe combined immunodeficiency (SCID) newborn screening panel |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Inmunodeficiencia combinada severa screnning de recién nacidos comentario-discusión: |
| es-MX | Spanish (Mexico) | Comentario-discusión de cribado neonatal de inmunodeficiencia combinada grave: |
| fr-FR | French (France) | Immunodéficience sévère associée dépistage néonatal (commentaire-discusssion): |
| fr-BE | French (Belgium) | Immunodéficience combinée sévère Commentaires.screening néonatal.discussion: |
| it-IT | Italian (Italy) | Immunodeficienza combinata grave, screening neonatale, commenti-discussione: Synonyms: Chimica Commento-discussione di screening neonatale per immunodeficienza combinata grave Punto nel tempo (episodio) Sangue Spot sangue secco Testo |
| nl-NL | Dutch (Netherlands) | ernstige gecombineerde immunodeficiëntie screening van pasgeborene commentaar-discussie: Synonyms: ernstige gecombineerde immunodeficientie |
| ru-RU | Russian (Russian Federation) | Тяжелый комбинированный иммунодефицит новорожденный скрининг комментарий-дискуссия: Synonyms: Кровь Кровь сухая капля Описательный Текст Точка во времени; |
| tr-TR | Turkish (Turkey) | Ciddi kombine immun bozukluk yenidoğan tarama öneri-tartışma: |
| zh-CN | Chinese (China) | 严重联合免疫缺陷 新生儿筛查注释-讨论: Synonyms: Asympt SCN 严重联合免疫缺陷新生儿筛查注释/讨论 严重联合免疫缺陷病; |
62320-7 T-cell receptor excision circle [#/volume] in DBS by NAA with probe detection
Term Description
In newborn screening laboratories where dried blood spots (DBS) are the only available specimens, the test for T cell receptor excision circles (TREC) has been established as a reliable method in population-based pilot studies. TRECs are circular episomal DNA generated at the rearrangement of T cell antigen-receptor gene segments during maturation of T lymphocytes in the thymus. They are non-replicating byproducts that stay in the recent thymic emigrants in the peripheral blood. As such, they can serve as sensitive markers of T cell production in the newborn infant.
Source: Regenstrief LOINC
Part Descriptions
LP111251-7 T-cell receptor excision circle
T cell receptor excision circles (TRECs) are formed as a byproduct of T cell receptor (TCR) generation in the thymus. Every T cell has a unique TCR, and formation of TCRs involves DNA rearrangement into different combinations of variable, diversity, and joining sequences. As these combinations are created, the remaining fragments of excised DNA form circular structures, or TRECs. The number of TRECs is proportional to T cell production, with low TREC numbers being an indicator of inadequate T cell production. In newborns, dried blood spot TREC analysis is used to screen for severe combined immunodeficiency as well as other disorders associated with low T cell counts, such as DiGeorge syndrome, trisomy 21, CHARGE syndrome, and congenital leukemia. PMID: 25937517
Source: Regenstrief LOINC
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- T-cell receptor excision circle
- Property
- NCnc
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
- Probe.amp.tar
Additional Names
- Short Name
- TREC # DBS NAA+probe
- Display Name
- T-cell receptor excision circle NAA+probe (DBS) [#/Vol]
- Consumer Name Alpha Get Info
- T-cell receptor excision circle, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.34
- Last Updated
- Version 2.73
- Order vs. Observation
- Both
- Common Test Rank Get Info
- 11973
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
| 62333-0 | Severe combined immunodeficiency (SCID) newborn screening panel |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Círculos de escisión del receptor de células T: Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Círculo de escisión del receptor de células T: |
| fr-FR | French (France) | Récepteur cellules T cercle d'excision: |
| it-IT | Italian (Italy) | Linfocita T, circolo di escissione recettore: Synonyms: Chimica Circolo di escissione di recettore di linfocita T Concentrazione Numerica Linfocita T Punto nel tempo (episodio) Sangue Sonda con amplificazione Sonda con amplificazione del target Sonda di DNA Spot sangue secco |
| nl-NL | Dutch (Netherlands) | T-celreceptor excisiecirkel: Synonyms: probe.amp.tar |
| ru-RU | Russian (Russian Federation) | T-клеточного рецептора исключения круг: Synonyms: ДНК проба; |
| tr-TR | Turkish (Turkey) | T-hücresi reseptörü excision circle: |
| zh-CN | Chinese (China) | T-细胞受体重排删除环: Synonyms: T 细胞; |
Example Units
| Unit | Source |
|---|---|
| {copies} | Example UCUM Units |
92006-6 T-cell receptor excision circle [Cycle Threshold #] in DBS
Part Descriptions
LP111251-7 T-cell receptor excision circle
T cell receptor excision circles (TRECs) are formed as a byproduct of T cell receptor (TCR) generation in the thymus. Every T cell has a unique TCR, and formation of TCRs involves DNA rearrangement into different combinations of variable, diversity, and joining sequences. As these combinations are created, the remaining fragments of excised DNA form circular structures, or TRECs. The number of TRECs is proportional to T cell production, with low TREC numbers being an indicator of inadequate T cell production. In newborns, dried blood spot TREC analysis is used to screen for severe combined immunodeficiency as well as other disorders associated with low T cell counts, such as DiGeorge syndrome, trisomy 21, CHARGE syndrome, and congenital leukemia. PMID: 25937517
Source: Regenstrief LOINC
Fully-Specified Name
- Component
- T-cell receptor excision circle
- Property
- ThreshNum
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- TREC ThreshNum DBS Qn
- Display Name
- T-cell receptor excision circle (DBS) [ThreshNum]
- Consumer Name Alpha Get Info
- T-cell receptor excision circle, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.66
- Last Updated
- Version 2.66
- Order vs. Observation
- Observation
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
| 62333-0 | Severe combined immunodeficiency (SCID) newborn screening panel |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-MX | Spanish (Mexico) | Círculo de escisión del receptor de células T: |
| es-ES | Spanish (Spain) | Círculos de escisión del receptor de células T: Synonyms: Cuantitativo |
| fr-FR | French (France) | Récepteur cellules T cercle d'excision: |
| it-IT | Italian (Italy) | Linfocita T, circolo di escissione recettore: Synonyms: Chimica Circolo di escissione di recettore di linfocita T Limite di soglia Linfocita T Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | T-celreceptor excisiecirkel: |
| tr-TR | Turkish (Turkey) | T-hücresi reseptörü excision circle: Synonyms: Eşik Değer |
| zh-CN | Chinese (China) | T-细胞受体重排删除环: Synonyms: T 细胞; |
Example Units
| Unit | Source |
|---|---|
| {Ct_value} | Example UCUM Units |
92007-4 T-cell receptor excision circle [Z-score] in DBS
Part Descriptions
LP111251-7 T-cell receptor excision circle
T cell receptor excision circles (TRECs) are formed as a byproduct of T cell receptor (TCR) generation in the thymus. Every T cell has a unique TCR, and formation of TCRs involves DNA rearrangement into different combinations of variable, diversity, and joining sequences. As these combinations are created, the remaining fragments of excised DNA form circular structures, or TRECs. The number of TRECs is proportional to T cell production, with low TREC numbers being an indicator of inadequate T cell production. In newborns, dried blood spot TREC analysis is used to screen for severe combined immunodeficiency as well as other disorders associated with low T cell counts, such as DiGeorge syndrome, trisomy 21, CHARGE syndrome, and congenital leukemia. PMID: 25937517
Source: Regenstrief LOINC
Fully-Specified Name
- Component
- T-cell receptor excision circle
- Property
- Zscore
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- TREC Z-score DBS
- Display Name
- T-cell receptor excision circle (DBS) [Z-score]
- Consumer Name Alpha Get Info
- T-cell receptor excision circle, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.66
- Last Updated
- Version 2.66
- Order vs. Observation
- Both
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
| 62333-0 | Severe combined immunodeficiency (SCID) newborn screening panel |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-MX | Spanish (Mexico) | Círculo de escisión del receptor de células T: |
| es-ES | Spanish (Spain) | Círculos de escisión del receptor de células T: Synonyms: Cuantitativo |
| fr-FR | French (France) | Récepteur cellules T cercle d'excision: |
| it-IT | Italian (Italy) | Linfocita T, circolo di escissione recettore: Synonyms: Chimica Circolo di escissione di recettore di linfocita T Linfocita T Punto nel tempo (episodio) Sangue Spot sangue secco Z-score |
| nl-NL | Dutch (Netherlands) | T-celreceptor excisiecirkel: |
| ru-RU | Russian (Russian Federation) | T-клеточного рецептора исключения круг: Synonyms: Z-тест Фишера Количественный Кровь Кровь сухая капля Точка во времени; |
| tr-TR | Turkish (Turkey) | T-hücresi reseptörü excision circle: |
| zh-CN | Chinese (China) | T-细胞受体重排删除环: Synonyms: T 细胞; |
Example Units
| Unit | Source |
|---|---|
| {Zscore} | Example UCUM Units |
92008-2 T-cell receptor excision circle [Multiple of the median] in DBS
Part Descriptions
LP111251-7 T-cell receptor excision circle
T cell receptor excision circles (TRECs) are formed as a byproduct of T cell receptor (TCR) generation in the thymus. Every T cell has a unique TCR, and formation of TCRs involves DNA rearrangement into different combinations of variable, diversity, and joining sequences. As these combinations are created, the remaining fragments of excised DNA form circular structures, or TRECs. The number of TRECs is proportional to T cell production, with low TREC numbers being an indicator of inadequate T cell production. In newborns, dried blood spot TREC analysis is used to screen for severe combined immunodeficiency as well as other disorders associated with low T cell counts, such as DiGeorge syndrome, trisomy 21, CHARGE syndrome, and congenital leukemia. PMID: 25937517
Source: Regenstrief LOINC
Fully-Specified Name
- Component
- T-cell receptor excision circle
- Property
- MoM
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- TREC MoM DBS
- Display Name
- T-cell receptor excision circle (DBS) [MoM]
- Consumer Name Alpha Get Info
- T-cell receptor excision circle, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.66
- Last Updated
- Version 2.66
- Order vs. Observation
- Both
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
| 62333-0 | Severe combined immunodeficiency (SCID) newborn screening panel |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-MX | Spanish (Mexico) | Círculo de escisión del receptor de células T: |
| es-ES | Spanish (Spain) | Círculos de escisión del receptor de células T: Synonyms: Cuantitativo |
| fr-FR | French (France) | Récepteur cellules T cercle d'excision: |
| it-IT | Italian (Italy) | Linfocita T, circolo di escissione recettore: Synonyms: Chimica Circolo di escissione di recettore di linfocita T Linfocita T Multipli della mediana Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | T-celreceptor excisiecirkel: Synonyms: MoM |
| ru-RU | Russian (Russian Federation) | T-клеточного рецептора исключения круг: Synonyms: Количественный Кратность по отношению к среднему уровню Кровь Кровь сухая капля Точка во времени; |
| tr-TR | Turkish (Turkey) | T-hücresi reseptörü excision circle: |
| zh-CN | Chinese (China) | T-细胞受体重排删除环: Synonyms: MoM; |
Example Units
| Unit | Source |
|---|---|
| {M.o.M} | Example UCUM Units |
92005-8 Spinal muscular atrophy newborn screening panel
Fully-Specified Name
- Component
- Spinal muscular atrophy newborn screening panel
- Property
- -
- Time
- Pt
- System
- Bld.dot
- Scale
- -
- Method
Additional Names
- Short Name
- SMA NB scn pnl DBS
- Display Name
- Spinal muscular atrophy newborn screening panel (DBS)
- Consumer Name Alpha Get Info
- Spinal muscular atrophy newborn screening panel, Dried blood spot
Basic Attributes
- Class
- PANEL.MOLPATH
- Type
- Laboratory
- First Released
- Version 2.66
- Last Updated
- Version 2.70
- Order vs. Observation
- Order
- Panel Type
- Panel
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Panel de detección de atrofia muscular espinal en recién nacidos: |
| es-MX | Spanish (Mexico) | Panel de detección de recién nacidos de atrofia muscular espinal: |
| fr-FR | French (France) | Atrophie musculaire spinale Dépistage néonatale panel: |
| it-IT | Italian (Italy) | Atrofia muscolare spinale, panel screening neonato: Synonyms: Panel screening neonatale Panel screening neonato di atrofia muscolare spinale Patologia molecolare Punto nel tempo (episodio) Sangue Set di prescrizione patologia molecolare SMA Spot sangue secco |
| zh-CN | Chinese (China) | 脊髓性肌萎缩新生儿筛查组套: Synonyms: Asympt SCN 全血斑点(滤纸); |
92004-1 Spinal muscular atrophy newborn screen interpretation
Fully-Specified Name
- Component
- Spinal muscular atrophy
- Property
- Imp
- Time
- Pt
- System
- Bld.dot
- Scale
- Nom
- Method
Additional Names
- Short Name
- SMA DBS-Imp
- Display Name
- Spinal muscular atrophy (DBS) [Interp]
- Consumer Name Alpha Get Info
- Spinal muscular atrophy, Dried blood spot
Basic Attributes
- Class
- MOLPATH
- Type
- Laboratory
- First Released
- Version 2.66
- Last Updated
- Version 2.66
- Order vs. Observation
- Observation
Preferred Answer List LL840-0
| Answer | Code | Score | Answer ID |
|---|---|---|---|
| In range | LA18592-8 | ||
| Borderline | LA4259-3 | ||
| Indeterminate Copyright http://snomed.info/sct ID:82334004 Indeterminate (qualifier value) | LA11884-6 | ||
| Out of range | LA18593-6 | ||
| Out of range requiring further dried blood spot testing for at least one condition | LA12430-7 | ||
| Out of range requiring immediate referral | LA25817-0 | ||
| Out of range requiring immediate second-tier testing for at least one condition | LA12431-5 | ||
| Out of range requiring deferred follow-up for at least one condition | LA18594-4 | ||
| One or more tests pending | LA16204-2 | ||
| Specimen unsatisfactory for at least one condition | LA16205-9 |
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
| 92005-8 | Spinal muscular atrophy newborn screening panel |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Atrofia muscular en la columna: |
| es-MX | Spanish (Mexico) | Atrofia muscular en la columna: |
| fr-FR | French (France) | Atrophie musculaire spinale: |
| it-IT | Italian (Italy) | Atrofia muscolare spinale: Synonyms: Impressione/interpretazione di studio Patologia molecolare Punto nel tempo (episodio) Sangue SMA Spot sangue secco |
| zh-CN | Chinese (China) | 脊髓性肌萎缩: Synonyms: 全血斑点(滤纸); |
Third Party Copyright
This material includes SNOMED Clinical Terms® (SNOMED CT®) which is used by permission of the International Health Terminology Standards Development Organisation (IHTSDO) under license. All rights reserved. SNOMED CT® was originally created by The College of American Pathologists. "SNOMED" and "SNOMED CT" are registered trademarks of the IHTSDO.
This material includes content from the US Edition to SNOMED CT, which is developed and maintained by the U.S. National Library of Medicine and is available to authorized UMLS Metathesaurus Licensees from the UTS Downloads site at https://uts.nlm.nih.gov.
Use of SNOMED CT content is subject to the terms and conditions set forth in the SNOMED CT Affiliate License Agreement. It is the responsibility of those implementing this product to ensure they are appropriately licensed and for more information on the license, including how to register as an Affiliate Licensee, please refer to http://www.snomed.org/snomed-ct/get-snomed-ct or info@snomed.org<mailto:info@snomed.org>. This may incur a fee in SNOMED International non-Member countries.
92003-3 Spinal muscular atrophy newborn screening comment-discussion
Fully-Specified Name
- Component
- Spinal muscular atrophy newborn screening comment-discussion
- Property
- Txt
- Time
- Pt
- System
- Bld.dot
- Scale
- Nar
- Method
Additional Names
- Short Name
- SMA NBS comment
- Display Name
- Spinal muscular atrophy newborn screening comment-discussion Nar (DBS)
- Consumer Name Alpha Get Info
- Spinal muscular atrophy newborn screening comment-discussion, Dried blood spot
Basic Attributes
- Class
- MOLPATH
- Type
- Laboratory
- First Released
- Version 2.66
- Last Updated
- Version 2.66
- Order vs. Observation
- Observation
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
| 92005-8 | Spinal muscular atrophy newborn screening panel |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-MX | Spanish (Mexico) | Atrofia muscular espinal cribado neonatal comentario-discusión: |
| es-ES | Spanish (Spain) | Atrofia muscular en la columna screnning de recién nacidos comentario-discusión: |
| fr-FR | French (France) | Atrophie musculaire spinale Dépistage néonatale (commentaire-discusssion): |
| it-IT | Italian (Italy) | Atrofia muscolare spinale, screening neonatale, commenti-discussione: Synonyms: Patologia molecolare Punto nel tempo (episodio) Sangue SMA Spot sangue secco Testo |
| zh-CN | Chinese (China) | 脊髓性肌萎缩 新生儿筛查注释-讨论: Synonyms: Asympt SCN 全血斑点(滤纸); |
92002-5 SMN1 gene [Cycle Threshold #] in DBS by NAA with probe detection
Term Description
The number of cycles at which the SNM1 gene was detected using real-time PCR. If the maximum number of cycles is reached without detection of the gene, this indicates the absence of SNM1 and requires follow-up evaluation for spinal muscular atrophy (SMA).
Source: Regenstrief LOINC
Part Descriptions
LP33177-4 SMN1 gene
The SMN1 gene (survival of motor neuron 1, telomeric) [HGNC Gene ID:11117] is located on chromosome 5q13.2. This gene is part of a 500 kb inverted duplication on chromosome 5q13. This duplicated region contains at least four genes and repetitive elements which make it prone to rearrangements and deletions. The repetitiveness and complexity of the sequence have also caused difficulty in determining the organization of this genomic region. The telomeric and centromeric copies of this gene are nearly identical and encode the same protein. However, mutations in this gene, the telomeric copy, are associated with spinal muscular atrophy; mutations in the centromeric copy do not lead to disease. The centromeric copy may be a modifier of disease caused by mutation in the telomeric copy. The critical sequence difference between the two genes is a single nucleotide in exon 7, which is thought to be an exon splice enhancer. Note that the nine exons of both the telomeric and centromeric copies are designated historically as exon 1, 2a, 2b, and 3-8. It is thought that gene conversion events may involve the two genes, leading to varying copy numbers of each gene. The protein encoded by this gene localizes to both the cytoplasm and the nucleus. Within the nucleus, the protein localizes to subnuclear bodies called gems which are found near coiled bodies containing high concentrations of small ribonucleoproteins (snRNPs). This protein forms heteromeric complexes with proteins such as SIP1 and GEMIN4, and also interacts with several proteins known to be involved in the biogenesis of snRNPs, such as hnRNP U protein and the small nucleolar RNA binding protein. Multiple transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jul 2014] [NCBI Gene ID:6606]
Source: National Center for Biotechnology Information (NCBI) Gene
Fully-Specified Name
- Component
- SMN1 gene
- Property
- ThreshNum
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
- Probe.amp.tar
Additional Names
- Short Name
- SMN1 gene Ct DBS Qn NAA+probe
- Display Name
- SMN1 gene NAA+probe (DBS) [ThreshNum]
- Consumer Name Alpha Get Info
- SMN1 gene, Dried blood spot
Basic Attributes
- Class
- MOLPATH
- Type
- Laboratory
- First Released
- Version 2.66
- Last Updated
- Version 2.66
- Order vs. Observation
- Both
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
| 92005-8 | Spinal muscular atrophy newborn screening panel |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-MX | Spanish (Mexico) | Gen SMN1: |
| es-ES | Spanish (Spain) | Gen SMN1: Synonyms: Cuantitativo |
| fr-FR | French (France) | SMN1 gène: |
| it-IT | Italian (Italy) | SMN1, gene: Synonyms: Gene SMN1 Limite di soglia Patologia molecolare Punto nel tempo (episodio) Sangue Sonda con amplificazione Sonda con amplificazione del target Sonda di DNA Spot sangue secco |
| nl-NL | Dutch (Netherlands) | SMN1-gen: Synonyms: probe.amp.tar SMN1 gen |
| tr-TR | Turkish (Turkey) | SMN1 geni: Synonyms: Eşik Değer |
| zh-CN | Chinese (China) | SMN1 基因: Synonyms: BCD541; |
Example Units
| Unit | Source |
|---|---|
| {Ct_value} | Example UCUM Units |
97654-8 SMN2 gene copy number in Blood or Tissue by Molecular genetics method
Term Description
The SMN2 copy number varies from 0 to 3 copies in the population, with about 10-15% of unaffected individuals having no SMN2 gene. The SMN2 copy number does not impact the carrier status but rather influences severity of disease in patients with spinal muscular atrophy (SMA), where the presence of more copies is associated with milder disease. PMID: 21673580
Source: Regenstrief LOINC
Part Descriptions
LP426531-2 SMN2 gene copy number
The SMN2 gene (survival of motor neuron 2, centromeric) [HGNC Gene ID:11118] is located on chromosome 5q13.2. This gene is part of a 500 kb inverted duplication on chromosome 5q13. This duplicated region contains at least four genes and repetitive elements which make it prone to rearrangements and deletions. The repetitiveness and complexity of the sequence have also caused difficulty in determining the organization of this genomic region. The telomeric and centromeric copies of this gene are nearly identical and encode the same protein. While mutations in the telomeric copy are associated with spinal muscular atrophy, mutations in this gene, the centromeric copy, do not lead to disease. This gene may be a modifier of disease caused by mutation in the telomeric copy. The critical sequence difference between the two genes is a single nucleotide in exon 7, which is thought to be an exon splice enhancer. Note that the nine exons of both the telomeric and centromeric copies are designated historically as exon 1, 2a, 2b, and 3-8. It is thought that gene conversion events may involve the two genes, leading to varying copy numbers of each gene. The full length protein encoded by this gene localizes to both the cytoplasm and the nucleus. Within the nucleus, the protein localizes to subnuclear bodies called gems which are found near coiled bodies containing high concentrations of small ribonucleoproteins (snRNPs). This protein forms heteromeric complexes with proteins such as SIP1 and GEMIN4, and also interacts with several proteins known to be involved in the biogenesis of snRNPs, such as hnRNP U protein and the small nucleolar RNA binding protein. Four transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Sep 2008] [NCBI Gene ID:6607]
Source: National Center for Biotechnology Information (NCBI) Gene
Fully-Specified Name
- Component
- SMN2 gene copy number
- Property
- EntNum
- Time
- Pt
- System
- Bld/Tiss
- Scale
- Qn
- Method
- Molgen
Additional Names
- Short Name
- SMN2 copy num EntNum Bld/T
- Display Name
- SMN2 copy num Molgen (Bld/Tiss) [Entitic number]
- Consumer Name Alpha Get Info
- SMN2 copy number, Blood or tissue specimen
Basic Attributes
- Class
- MOLPATH
- Type
- Laboratory
- First Released
- Version 2.70
- Last Updated
- Version 2.72
- Order vs. Observation
- Both
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
| 92005-8 | Spinal muscular atrophy newborn screening panel |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Número de copias del gen SMN2: Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Número de copia del gen SMN2: |
| fr-FR | French (France) | SMN2 gène - Nombre de copie: |
| it-IT | Italian (Italy) | Gene SMN2, numero copia: Synonyms: Gene SMN2 Genetica molecolare Numero copia di gene SMN2 Numero entitico Patologia molecolare Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & |
| nl-NL | Dutch (Netherlands) | aantal kopieën van SMN2-gen: Synonyms: molgen SMN2 gen |
| zh-CN | Chinese (China) | SMN2 基因拷贝数: Synonyms: BCD541; |
Example Units
| Unit | Source |
|---|---|
| {#} | Example UCUM Units |
85267-3 X-linked adrenoleukodystrophy (X-ALD) newborn screening panel
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- X-linked adrenoleukodystrophy (X-ALD) newborn screening panel
- Property
- -
- Time
- Pt
- System
- Bld.dot
- Scale
- -
- Method
Additional Names
- Short Name
- X-ALD NBS Pnl DBS
- Display Name
- X-linked adrenoleukodystrophy (X-ALD) NBS panel (DBS)
- Consumer Name Alpha Get Info
- X-linked Adrenoleukodystrophy (X-ALD) NBS Panel, Dried blood spot
Basic Attributes
- Class
- PANEL.CHEM
- Type
- Laboratory
- First Released
- Version 2.58
- Last Updated
- Version 2.77
- Order vs. Observation
- Order
- Panel Type
- Panel
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Panel de cribado en recién nacidos para adrenoleucodistrofia ligada al crosoma X: |
| es-MX | Spanish (Mexico) | Panel de cribado neonatal de adrenoleucodistrofia ligada al cromosoma X (X-ALD): |
| fr-FR | French (France) | Adrénoleucodystrophie liée à l'X dépistage néonatal panel: |
| it-IT | Italian (Italy) | Adrenoleucodistrofia legata all'X (X-ALD), panel screening neonatale: Synonyms: Chimica Panel screening neonatale Panel screening neonatale per adrenoleucodistrofia Punto nel tempo (episodio) Sangue Set di prescrizione chimica Spot sangue secco |
| zh-CN | Chinese (China) | X连锁肾上腺脑白质营养不良新生儿筛查组套: Synonyms: Asympt SCN X染色体连锁肾上腺脑白质营养不良; |
85269-9 X-linked adrenoleukodystrophy newborn screen interpretation
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- X-linked adrenoleukodystrophy
- Property
- Imp
- Time
- Pt
- System
- Bld.dot
- Scale
- Nom
- Method
Additional Names
- Short Name
- X-ALD DBS-Imp
- Display Name
- X-linked adrenoleukodystrophy (DBS) [Interp]
- Consumer Name Alpha Get Info
- X-linked adrenoleukodystrophy, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.58
- Last Updated
- Version 2.58
- Order vs. Observation
- Observation
Preferred Answer List LL840-0
| Answer | Code | Score | Answer ID |
|---|---|---|---|
| In range | LA18592-8 | ||
| Borderline | LA4259-3 | ||
| Indeterminate Copyright http://snomed.info/sct ID:82334004 Indeterminate (qualifier value) | LA11884-6 | ||
| Out of range | LA18593-6 | ||
| Out of range requiring further dried blood spot testing for at least one condition | LA12430-7 | ||
| Out of range requiring immediate referral | LA25817-0 | ||
| Out of range requiring immediate second-tier testing for at least one condition | LA12431-5 | ||
| Out of range requiring deferred follow-up for at least one condition | LA18594-4 | ||
| One or more tests pending | LA16204-2 | ||
| Specimen unsatisfactory for at least one condition | LA16205-9 |
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
| 85267-3 | X-linked adrenoleukodystrophy (X-ALD) newborn screening panel |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-MX | Spanish (Mexico) | Adrenoleucodistrofia ligada al cromosoma X: |
| es-ES | Spanish (Spain) | Adrenoleucodistrofia ligada al crosoma X: |
| fr-FR | French (France) | Adrénoleucodystrophie liée à l'X: |
| it-IT | Italian (Italy) | Adrenoleucodistrofia legata all'X: Synonyms: Chimica Impressione/interpretazione di studio Punto nel tempo (episodio) Sangue Spot sangue secco |
| zh-CN | Chinese (China) | X连锁肾上腺脑白质营养不良: Synonyms: X染色体连锁肾上腺脑白质营养不良; |
Third Party Copyright
This material includes SNOMED Clinical Terms® (SNOMED CT®) which is used by permission of the International Health Terminology Standards Development Organisation (IHTSDO) under license. All rights reserved. SNOMED CT® was originally created by The College of American Pathologists. "SNOMED" and "SNOMED CT" are registered trademarks of the IHTSDO.
This material includes content from the US Edition to SNOMED CT, which is developed and maintained by the U.S. National Library of Medicine and is available to authorized UMLS Metathesaurus Licensees from the UTS Downloads site at https://uts.nlm.nih.gov.
Use of SNOMED CT content is subject to the terms and conditions set forth in the SNOMED CT Affiliate License Agreement. It is the responsibility of those implementing this product to ensure they are appropriately licensed and for more information on the license, including how to register as an Affiliate Licensee, please refer to http://www.snomed.org/snomed-ct/get-snomed-ct or info@snomed.org<mailto:info@snomed.org>. This may incur a fee in SNOMED International non-Member countries.
85268-1 X-linked adrenoleukodystrophy newborn screening comment-discussion
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- X-linked adrenoleukodystrophy newborn screening comment-discussion
- Property
- Txt
- Time
- Pt
- System
- Bld.dot
- Scale
- Nar
- Method
Additional Names
- Short Name
- X-ALD NBS comment
- Display Name
- X-linked adrenoleukodystrophy newborn screening comment-discussion Nar (DBS)
- Consumer Name Alpha Get Info
- X-linked adrenoleukodystrophy newborn screening comment-discussion, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.58
- Last Updated
- Version 2.58
- Order vs. Observation
- Observation
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
| 85267-3 | X-linked adrenoleukodystrophy (X-ALD) newborn screening panel |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-MX | Spanish (Mexico) | Adrenoleucodistrofia ligada al cromosoma X examen de detección de recién nacidos comentario-discusión: |
| es-ES | Spanish (Spain) | Adrenoleucodistrofia ligada al crosoma X screnning de recién nacidos comentario-discusión: |
| fr-FR | French (France) | Adrénoleucodystrophie liée à l'X dépistage néonatal (commentaire-discusssion): |
| it-IT | Italian (Italy) | Adrenoleucodistrofia legata all'X, screening neonatale, commenti-discussione: Synonyms: Chimica Punto nel tempo (episodio) Sangue Spot sangue secco Testo |
| zh-CN | Chinese (China) | X连锁肾上腺脑白质营养不良 新生儿筛查注释-讨论: Synonyms: Asympt SCN X染色体连锁肾上腺脑白质营养不良; |
79321-6 Lysophosphatidylcholine(26:0) [Moles/volume] in DBS
Part Descriptions
LP200432-5 Lysophosphatidylcholine(26:0)
Lysophosphatidylcholine(26:0), or LysoPC(26:0), is a lysophospholipid (LyP) and diagnostic marker for X-linked adrenoleukodystrophy (X-ALD), peroxisomal biogenesis disorders (PBD) and single enzyme defects (SED) of peroxisomal fatty acid oxidation. PMID: 19423374 For newborn screening, 26:0 lyso-PC is measured in dried blood spots (DBS) for the diagnosis, monitoring and treatment of X-ALD other peroxisomal disorders.
Source: Regenstrief LOINC
Observation Required in Panel
Optional
Fully-Specified Name
- Component
- Lysophosphatidylcholine(26:0)
- Property
- SCnc
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- LysoPC(26:0) DBS-sCnc
- Display Name
- LysoPC(26:0) (DBS) [Moles/Vol]
- Consumer Name Alpha Get Info
- LysoPC(26:0), Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.54
- Last Updated
- Version 2.67
- Order vs. Observation
- Both
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
| 85267-3 | X-linked adrenoleukodystrophy (X-ALD) newborn screening panel |
Member of these Groups Get Info
| LOINC Group | Group Name |
|---|---|
| LG50129-2 | Lysophosphatidylcholine(26: |
| LG30563-7 | Lysophosphatidylcholine(26: |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Lisofosfatidilcolina (26: Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Lisofosfatidilcolina (26: |
| fr-FR | French (France) | Lysophosphatidylcholine(26: |
| it-IT | Italian (Italy) | Lisofosfatidilcolina(26: Synonyms: Chimica Concentrazione di Sostanza Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | lysofosfatidylcholine(26: |
| tr-TR | Turkish (Turkey) | Lizofosfatidilkolin(26: |
| zh-CN | Chinese (China) | 溶血磷脂酰胆碱(26: Synonyms: 克分子浓度; |
Example Units
| Unit | Source |
|---|---|
| umol/L | Example UCUM Units |
57128-1 Newborn Screening Report summary panel
Term Description
This panel includes a LOINC code that could carry a summary report as text , or PDF , the overall interpretation of the report to permit easy searching for abnormal , a list of the conditions suspected based on the marker results as codes - to make it easy for receiving systems to find cases requiring follow up.
Source: Regenstrief LOINC
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Newborn Screening Report summary panel
- Property
- -
- Time
- Pt
- System
- ^Patient
- Scale
- -
- Method
Additional Names
- Short Name
- NBS report summary pnl Patient
- Display Name
- NBS Report summary panel
- Consumer Name Alpha Get Info
- NBS report summary panel
Basic Attributes
- Class
- PANEL.CHEM
- Type
- Laboratory
- First Released
- Version 2.29
- Last Updated
- Version 2.77
- Order vs. Observation
- Order
- Common Test Rank Get Info
- 9088
- Panel Type
- Organizer
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
| 57794-0 | Newborn screening test results panel - DBS |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Resumen de Informe del panel de cribado del recién nacido: |
| es-MX | Spanish (Mexico) | Panel de resumen del informe de detección del recién nacido: |
| fr-BE | French (Belgium) | Rapport screening néonatal.Panel résumé: |
| fr-FR | French (France) | Dépistage néonatal - Résumé du compte rendu panel: |
| it-IT | Italian (Italy) | Screening neonatale, panel riassuntivo di referto: Synonyms: Chimica Panel riassuntivo di referto di screening neonatal paziente Punto nel tempo (episodio) Referto Set di prescrizione chimica |
| nl-NL | Dutch (Netherlands) | pasgeborene screening rapport samenvattend panel: |
| pt-BR | Portuguese (Brazil) | Resumo de relatório da triagem Neonatal painel: Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Новорождённый Скрининг Отчёт краткие сведения панель: Synonyms: Точка во времени; |
| zh-CN | Chinese (China) | 新生儿筛查报告摘要组套: Synonyms: Asympt SCN 化学; |
57721-3 Reason for lab test in Dried blood spot
Term Description
Definitions of answer codes for reason for newborn screen lab test in dried blood spot:
Initial Screen: This answer code is used for the first screen performed on an infant after birth. When the first specimen obtained is of unacceptable quality and cannot be used, a replacement specimen is still considered the initial screen. When an initial screen is performed before 24 hrs because of a planned transfusion or an extremely ill infant, it is still considered the initial screen even though it may need to be repeated later.
Subsequent screen - required by law: This answer code is used for mandatory second screens as required by law and assumes that the first screen was normal and that the second screen was performed only because it was mandated by law. For example, [give name of state(s)] currently performs a second screen on every infant born in the state at a particular point in time, such as between 1 and 2 weeks. The purpose of identifying the reason for a subsequent screen is that it will change the expected time interval when the subsequent screen should be performed.
Subsequent screen - required by protocol: This answer code is used for subsequent screens that are performed because of clinical conditions in the newborn that require a repeat screen as specified by a protocol to assure valid test results. Many of these subsequent screens have abnormal or out-of-range results on the initial screen that can be explained by the clinical condition of the infant. Typical examples include premature infants, infants who receive blood product transfusions, and infants who are receiving intravenous alimentation. This category should not include abnormal tests that should be considered presumptive positives (which would require a diagnostic evaluation rather than a repeat screen by protocol). The purpose of identifying the reason for a subsequent screen is that it will change the expected time interval when the subsequent screen should be performed.
Subsequent screen - for clarification of initial results (not by law or protocol): When the results of the initial screen are abnormal or out of range, many states perform an "immediate" repeat screen to confirm the results before considering the test a presumptive positive that will require a diagnostic evaluation. Many of these results may be considered or reported as equivocal or borderline until a clear abnormality is confirmed on the subsequent screen. This category does not include abnormal or borderline results for which there is a clear clinical explanation, such as prematurity, for which there is a clear protocol for obtaining a second screen. The purpose of identifying the reason for a subsequent screen is that it will change the expected time interval when the subsequent screen should be performed.
Subsequent screen - reason unknown: The purpose of identifying the reason for a subsequent screen is that it will change the expected time interval when the subsequent screen should be performed. States should use this answer code if they are unable to identify the specific reason for a subsequent screen, but they are able to separate initial screens from subsequent screens. The reason for the second screen might be any of the above. A repeat initial screen because the first specimen was of unacceptable quality should not be considered a subsequent screen, but some states may use this code if they are unable to track that the reason for a second specimen was unacceptable quality of the first screen.
No sample collected due to parental refusal: This answer code is used to document parental refusal of newborn screening so that a report can be generated which will contain no test results because no specimen was submitted. This will enable complete matching of newborn screening results to all infants born even if no laboratory testing was performed.
Source: Regenstrief LOINC
Observation Required in Panel
Required
Fully-Specified Name
- Component
- Reason for lab test
- Property
- Type
- Time
- Pt
- System
- Bld.dot
- Scale
- Nom
- Method
Additional Names
- Short Name
- Reason for lab test DBS
- Display Name
- Reason for lab test Nom (DBS)
- Consumer Name Alpha Get Info
- Reason for lab test, Dried blood spot
Basic Attributes
- Class
- MISC
- Type
- Laboratory
- First Released
- Version 2.29
- Last Updated
- Version 2.73
- Order vs. Observation
- Observation
- Common Test Rank Get Info
- 13935
Normative Answer List LL831-9
| Answer | Code | Score | Answer ID |
|---|---|---|---|
| Initial screen | LA12421-6 | ||
| Subsequent screen - required by law | LA12425-7 | ||
| Subsequent screen - required by protocol | LA12426-5 | ||
| Subsequent screen - for clarification of initial results (not by law or protocol) | LA12427-3 | ||
| Subsequent screen - reason unknown | LA16473-3 | ||
| No sample collected due to parental refusal | LA14132-7 |
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
| 57794-0 | Newborn screening test results panel - DBS |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Motivo de la prueba de laboratorio: |
| es-MX | Spanish (Mexico) | Razón de la prueba de laboratorio: |
| fr-CA | French (Canada) | Indication de l'examen de laboratoire: |
| fr-FR | French (France) | Motif du test en laboratoire: |
| fr-BE | French (Belgium) | Justification des tests de labo: |
| it-IT | Italian (Italy) | Motivo di prova di laboratorio: Synonyms: Miscellanea Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | reden voor labtest: |
| pt-BR | Portuguese (Brazil) | Razão para teste de laboratório: Synonyms: Typ; |
| ru-RU | Russian (Russian Federation) | Причина лабораторный тест: Synonyms: Кровь Кровь сухая капля Номинальный; |
| tr-TR | Turkish (Turkey) | Sebep lab testi için: Synonyms: Tür |
| zh-CN | Chinese (China) | 关于实验室检验项目的原因: Synonyms: 全血斑点(滤纸); |
57718-9 Sample quality of Dried blood spot
Observation Required in Panel
Required
Fully-Specified Name
- Component
- Sample condition
- Property
- Type
- Time
- Pt
- System
- Bld.dot
- Scale
- Nom
- Method
Additional Names
- Short Name
- Sample quality of DBS
- Display Name
- Sample condition Nom (DBS)
- Consumer Name Alpha Get Info
- Sample condition, Dried blood spot
Basic Attributes
- Class
- SPEC
- Type
- Laboratory
- First Released
- Version 2.29
- Last Updated
- Version 2.73
- Change Reason
- Changed answer list from "Normative" to "Preferred" to fit the current LOINC model.
- Order vs. Observation
- Observation
- Common Test Rank Get Info
- 18177
Preferred Answer List LL832-7
| Answer | Code | Score | Answer ID |
|---|---|---|---|
| Acceptable | LA12432-3 | ||
| No sample received | LA12433-1 | ||
| Specimen damaged during transport | LA20623-7 | ||
| Specimen received in sealed plastic container | LA20624-5 | ||
| Specimen quantity insufficient due to incomplete saturation (blood did not soak through paper) Copyright http://snomed.info/sct ID:281268007 Insufficient sample (finding) | LA20625-2 | ||
| Specimen quantity insufficient because blood did not completely fill specimen circles Copyright http://snomed.info/sct ID:281268007 Insufficient sample (finding) | LA20626-0 | ||
| Specimen has uneven saturation | LA20627-8 | ||
| Specimen appears scratched or abraded | LA12682-3 | ||
| Specimen not dry before mailing | LA12683-1 | ||
| Specimen appears supersaturated | LA12684-9 | ||
| Specimen appears diluted, discolored or contaminated | LA12685-6 | ||
| Specimen exhibits serum rings | LA12686-4 | ||
| Specimen appears clotted or layered | LA12435-6 | ||
| Specimen not eluting | LA20628-6 | ||
| No blood | LA12687-2 | ||
| Sample too old | LA12441-4 | ||
| Testing of this specimen indicates more than one source of blood is present on the filter paper card | LA20630-2 | ||
| Unsuitable for other reasons | LA20629-4 |
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 74874-9 | Metabolic disorder therapy monitoring panel - DBS |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
| 57794-0 | Newborn screening test results panel - DBS |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-MX | Spanish (Mexico) | Condición de la muestra: |
| es-ES | Spanish (Spain) | Condición de la muestra: |
| fr-FR | French (France) | Échantillon condition: |
| fr-BE | French (Belgium) | Condition échantillon: |
| fr-CA | French (Canada) | Qualité de l'échantillon: |
| it-IT | Italian (Italy) | Campione, condizione: Synonyms: Caratteristiche campione Condizione del campione Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | monsterconditie: |
| pt-BR | Portuguese (Brazil) | Condição da amostra: Synonyms: Typ; |
| ru-RU | Russian (Russian Federation) | Образец состояние: Synonyms: Кровь Кровь сухая капля Номинальный; |
| tr-TR | Turkish (Turkey) | Örnek koşulu: Synonyms: Tür |
| zh-CN | Chinese (China) | 标本状况: Synonyms: 健康状况; |
Third Party Copyright
This material includes SNOMED Clinical Terms® (SNOMED CT®) which is used by permission of the International Health Terminology Standards Development Organisation (IHTSDO) under license. All rights reserved. SNOMED CT® was originally created by The College of American Pathologists. "SNOMED" and "SNOMED CT" are registered trademarks of the IHTSDO.
This material includes content from the US Edition to SNOMED CT, which is developed and maintained by the U.S. National Library of Medicine and is available to authorized UMLS Metathesaurus Licensees from the UTS Downloads site at https://uts.nlm.nih.gov.
Use of SNOMED CT content is subject to the terms and conditions set forth in the SNOMED CT Affiliate License Agreement. It is the responsibility of those implementing this product to ensure they are appropriately licensed and for more information on the license, including how to register as an Affiliate Licensee, please refer to http://www.snomed.org/snomed-ct/get-snomed-ct or info@snomed.org<mailto:info@snomed.org>. This may incur a fee in SNOMED International non-Member countries.
57130-7 Newborn screening report - overall interpretation
Term Description
Reports the summary interpretation of the screening test from a short list of specified codes (to be developed by the NBS community)
Source: Regenstrief LOINC
Condition for Inclusion
If the state reports a summary impression.
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Newborn screening report - overall interpretation
- Property
- Imp
- Time
- Pt
- System
- ^Patient
- Scale
- Nom
- Method
Additional Names
- Short Name
- NBS report - overall interp
- Display Name
- NBS report - overall interpretation [Interp]
- Consumer Name Alpha Get Info
- NBS report - overall interpretation
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.29
- Last Updated
- Version 2.73
- Order vs. Observation
- Observation
- Common Test Rank Get Info
- 1845
Example Answer List LL771-7
| Answer | Code | Score | Answer ID |
|---|---|---|---|
| All screening is in range for the conditions tested | LA12428-1 | ||
| Screen is borderline for at least one condition | LA12429-9 | ||
| Screen is indeterminate for at least one condition | LA18943-3 | ||
| Screen is out of range for at least one condition | LA18944-1 | ||
| Out of range requiring further dried blood spot testing for at least one condition | LA12430-7 | ||
| Out of range requiring immediate referral | LA25817-0 | ||
| Out of range requiring immediate second-tier testing for at least one condition | LA12431-5 | ||
| Out of range requiring deferred follow-up for at least one condition | LA18594-4 | ||
| Screening not done due to parental refusal | LA14133-5 | ||
| One or more tests pending | LA16204-2 | ||
| Specimen unsatisfactory for at least one condition | LA16205-9 |
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
| 57794-0 | Newborn screening test results panel - DBS |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Informe del cribado del recién nacido-interpretación general: |
| es-MX | Spanish (Mexico) | Informe de detección del recién nacido: |
| fr-FR | French (France) | Compte rendu dépistage néonatal - Interprétation: |
| fr-BE | French (Belgium) | Rapport screening néonatal - interprétation générale: |
| it-IT | Italian (Italy) | Screening neonatale, referto - interpretazione generale: Synonyms: Chimica Impressione/interpretazione di studio Interpretazione generale di referto di screening n paziente Punto nel tempo (episodio) Referto |
| nl-NL | Dutch (Netherlands) | pasgeborene screening rapport - overall interpretatie: |
| pt-BR | Portuguese (Brazil) | Relatório de triagem neonatal - interpretação global: Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Новорождённый скрининг отчёт - общая интерпретация: Synonyms: Впечатление/интерпретация исследования Номинальный; |
| tr-TR | Turkish (Turkey) | Yenidoğan tarama raporu - genel yorum: |
| zh-CN | Chinese (China) | 新生儿筛查报告 - 总体解释: Synonyms: Asympt SCN 全面; |
57131-5 Newborn conditions with positive markers [Identifier] in DBS
Term Description
This variable list the conditions that that the markers suggest may be present. It is a coded result intended for easy access by decision support systems to identify the cases that need special attention. The LOINC code will include an answer list that covers all of the conditions screened for by any state. States would only make statements about the conditions they screen for. (This item is still under discussion by the NBS community and subject to change)
Source: Regenstrief LOINC
Observation Required in Panel
Required
Fully-Specified Name
- Component
- Newborn conditions with positive markers
- Property
- Prid
- Time
- Pt
- System
- Bld.dot
- Scale
- Nom
- Method
Additional Names
- Short Name
- NB conditions positive DBS
- Display Name
- Newborn conditions with positive markers Nom (DBS)
- Consumer Name Alpha Get Info
- Newborn conditions with positive markers, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.29
- Last Updated
- Version 2.73
- Change Reason
- Changed answer list from "Normative" to "Preferred" to fit the current LOINC model.
- Order vs. Observation
- Observation
- Common Test Rank Get Info
- 17418
Preferred Answer List LL835-0
| Answer | Code | Score | Answer ID |
|---|---|---|---|
| None Copyright http://snomed.info/sct ID:260413007 None (qualifier value) | LA137-2 | ||
| Hearing loss Copyright http://snomed.info/sct ID:15188001 Hearing loss (disorder) | HEAR | LA24366-9 | |
| 2-Methyl-3-hydroxybutyric aciduria Copyright http://snomed.info/sct ID:791000124107 2-methyl-3-hydroxybutyric aciduria (disorder) | 2M3HBA | LA12464-6 | |
| 2-Methylbutyrylglycinuria Copyright http://snomed.info/sct ID:445596006 2-methylbutyrylglycinuria (disorder) | 2MBG | LA12465-3 | |
| 3-Methylcrotonyl-CoA carboxylase deficiency Copyright http://snomed.info/sct ID:13144005 Methylcrotonyl-coenzyme A carboxylase deficiency (disorder) | 3-MCC | LA12466-1 | |
| 3-Methylcrotonyl-CoA carboxylase deficiency (maternal) Copyright http://snomed.info/sct ID:206001006 Fetal or neonatal effect of maternal problem unrelated to pregnancy (disorder) | 3-MCC (mat) | LA12467-9 | |
| 3-Methylglutaconic aciduria Copyright http://snomed.info/sct ID:237950009 3-Methylglutaconic aciduria (disorder) | 3MGA | LA12468-7 | |
| Pyroglutamic acidemia Copyright http://snomed.info/sct ID:39112005 Glutathione synthase deficiency with 5-oxoprolinuria (disorder) | 5-OXO | LA12469-5 | |
| Argininemia | ARG | LA21161-7 | |
| Argininosuccinic aciduria | ASA | LA21162-5 | |
| Biopterin defect in cofactor biosynthesis Copyright http://snomed.info/sct ID:237914002 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency (disorder) | BIOPT-BS | LA12472-9 | |
| Biopterin defect in cofactor regeneration Copyright http://snomed.info/sct ID:58256000 Dihydropteridine reductase deficiency (disorder) | BIOPT-REG | LA12473-7 | |
| Beta-ketothiolase deficiency Copyright http://snomed.info/sct ID:237953006 Mitochondrial 2-methylacetoacetyl-CoA thiolase deficiency - potassium stimulated (disorder) | BKT | LA12474-5 | |
| Carnitine acylcarnitine translocase deficiency Copyright http://snomed.info/sct ID:238003000 Carnitine acylcarnitine translocase deficiency (disorder) | CACT | LA12475-2 | |
| Cobalamin A disease Copyright http://snomed.info/sct ID:73843004 Cobalamin A disease (disorder) | CBL A | LA12476-0 | |
| Cobalamin B disease Copyright http://snomed.info/sct ID:82245003 Cobalamin B disease (disorder) | CBL B | LA12477-8 | |
| Cobalamin C disease Copyright http://snomed.info/sct ID:74653006 Cobalamin C disease (disorder) | CBL C | LA12478-6 | |
| Cobalamin D disease Copyright http://snomed.info/sct ID:31220004 Cobalamin D disease (disorder) | CBL D | LA12479-4 | |
| Cobalamin E disease Copyright http://snomed.info/sct ID:360373000 Homocystinuria vitamin B12-responsive type III (disorder) | CBL E | LA12480-2 | |
| CBL G type Methylcobalamin deficiency Copyright http://snomed.info/sct ID:721187005 Methylcobalamin deficiency type cbl G (disorder) | CBL G | LA12481-0 | |
| Citrullinemia, type I Copyright http://snomed.info/sct ID:398680004 Citrullinemia (disorder) | CIT-I | LA12482-8 | |
| Citrullinemia, type II Copyright http://snomed.info/sct ID:716863007 Citrullinemia type II (disorder) | CIT-II | LA12483-6 | |
| Carbamoyl-phosphate synthase deficiency Copyright http://snomed.info/sct ID:62522004 Congenital hyperammonemia, type I (disorder) | CPS | LA12484-4 | |
| Carnitine palmitoyltransferase type I deficiency Copyright http://snomed.info/sct ID:238001003 Carnitine palmitoyltransferase I deficiency (disorder) | CPT-Ia | LA12485-1 | |
| Carnitine palmitoyltransferase type II deficiency Copyright http://snomed.info/sct ID:238002005 Carnitine palmitoyltransferase II deficiency (disorder) | CPT-II | LA12486-9 | |
| Carnitine uptake deficiency/carnitine transport defect Copyright http://snomed.info/sct ID:21764004 Renal carnitine transport defect (disorder) | CUD | LA12487-7 | |
| Carnitine uptake deficiency/carnitine transport defect (maternal) Copyright http://snomed.info/sct ID:206001006 Fetal or neonatal effect of maternal problem unrelated to pregnancy (disorder) | CUD (mat) | LA12488-5 | |
| 2,4-Dienoyl-CoA reductase deficiency Copyright http://snomed.info/sct ID:444944006 Deficiency of 2,4-dienoyl-coenzyme A reductase (disorder) | De-Red | LA12489-3 | |
| Dihydrolipoamide dehydrogenase deficiency Copyright http://snomed.info/sct ID:29914000 Dihydrolipoamide dehydrogenase deficiency (disorder) | E3 | LA12490-1 | |
| Ethylmalonic encephalopathy Copyright http://snomed.info/sct ID:723307008 Ethylmalonic encephalopathy (disorder) | EMA | LA12491-9 | |
| Formiminoglutamic acidemia Copyright http://snomed.info/sct ID:59761008 Glutamate formiminotransferase deficiency (disorder) | FIGLU | LA12492-7 | |
| Glutaric acidemia type I Copyright http://snomed.info/sct ID:76175005 Glutaric aciduria, type 1 (disorder) | GA-1 | LA12493-5 | |
| Glutaric acidemia (maternal) Copyright http://snomed.info/sct ID:206001006 Fetal or neonatal effect of maternal problem unrelated to pregnancy (disorder) | GA-1 (mat) | LA12494-3 | |
| Glutaric acidemia type II Copyright http://snomed.info/sct ID:22886006 Glutaric aciduria, type 2 (disorder) | GA-2 | LA12495-0 | |
| Homocystinuria Copyright http://snomed.info/sct ID:11282001 Homocystinuria (disorder) | HCY | LA12496-8 | |
| Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome Copyright http://snomed.info/sct ID:30287008 Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome (disorder) | HHH | LA12497-6 | |
| Histidinemia Copyright http://snomed.info/sct ID:410058007 Histidinemia (disorder) | HIS | LA12498-4 | |
| 3-Hydroxy-3-methylglutaric aciduria Copyright http://snomed.info/sct ID:410059004 Hydroxymethylglutaric aciduria (disorder) | HMG | LA12499-2 | |
| Hyperphenylalaninemia (variant, benign) Copyright http://snomed.info/sct ID:68528007 Hyperphenylalaninemia (disorder) | H-PHE | LA12500-7 | |
| Hyperlysinemia Copyright http://snomed.info/sct ID:58558003 Hyperlysinemia (disorder) | Hyper LYS | LA12501-5 | |
| Girate atrophy of the retina Copyright http://snomed.info/sct ID:314467007 Gyrate atrophy (disorder) | Hyper ORN | LA12502-3 | |
| Valinemia Copyright http://snomed.info/sct ID:47719001 Hypervalinemia (disorder) | Hyper VAL | LA12503-1 | |
| Isobutyrylglycinuria Copyright http://snomed.info/sct ID:445571008 Isobutyrylglycinuria (disorder) | IBG | LA12504-9 | |
| Isovaleric acidemia Copyright http://snomed.info/sct ID:87827003 Isovaleryl-coenzyme A dehydrogenase deficiency (disorder) | IVA | LA12505-6 | |
| Primary lactic acidemia Copyright http://snomed.info/sct ID:190882007 Lactic acidemia (disorder) | LACTIC | LA12506-4 | |
| Long-chain L-3 hydroxyacyl-CoA dehydrogenase deficiency Copyright http://snomed.info/sct ID:307127004 Isolated long chain hydroxyacyl-CoA dehydrogenase deficiency (disorder) | LCHAD | LA12507-2 | |
| Malonic acidemia Copyright http://snomed.info/sct ID:124594007 Deficiency of malonyl-coenzyme A decarboxylase (disorder) | MAL | LA12508-0 | |
| Medium-chain acyl-CoA dehydrogenase deficiency Copyright http://snomed.info/sct ID:128596003 Medium-chain acyl-coenzyme A dehydrogenase deficiency (disorder) | MCAD | LA12509-8 | |
| Holoocarboxylase synthase deficiency Copyright http://snomed.info/sct ID:360369003 Holocarboxylase synthase deficiency (disorder) | MCD | LA12510-6 | |
| Medium-chain ketoacyl-CoA thiolase deficiency Copyright http://snomed.info/sct ID:124265004 Deficiency of acetyl-coenzyme A acyltransferase (disorder) | MCKAT | LA12511-4 | |
| Hypermethioninemia Copyright http://snomed.info/sct ID:43123004 Hypermethioninemia (disorder) | MET | LA12512-2 | |
| Maple syrup urine disease Copyright http://snomed.info/sct ID:27718001 Maple syrup urine disease (disorder) | MSUD | LA21168-2 | |
| Methylene tetrahydrofolate reductase deficiency Copyright http://snomed.info/sct ID:41797007 5,10-Methylenetetrahydrofolate reductase deficiency (disorder) | MTHFR | LA12514-8 | |
| Methylmalonic acidemia Copyright http://snomed.info/sct ID:124680001 Deficiency of methylmalonyl-coenzyme A mutase (disorder) | MUT | LA12515-5 | |
| Nonketotic hyperglycinemia (glycine encephalopathy) Copyright http://snomed.info/sct ID:237939006 Non-ketotic hyperglycinemia (disorder) | NKHG | LA12516-3 | |
| Hydroxyprolinemia Copyright http://snomed.info/sct ID:25739007 Hyperhydroxyprolinemia (disorder) | OH PRO | LA12517-1 | |
| Ornithine transcarbamylase deficiency Copyright http://snomed.info/sct ID:80908008 Ornithine carbamoyltransferase deficiency (disorder) | OTC | LA12518-9 | |
| Pyruvate carboxylase deficiency Copyright http://snomed.info/sct ID:87694001 Pyruvate carboxylase deficiency (disorder) | PC | LA12519-7 | |
| Classic phenylketonuria Copyright http://snomed.info/sct ID:7573000 Classical phenylketonuria (disorder) | PKU | LA12520-5 | |
| Hyperprolinemia type I Copyright http://snomed.info/sct ID:61071003 Proline dehydrogenase deficiency (disorder) | PRO I | LA12521-3 | |
| Hyperprolinemia type II Copyright http://snomed.info/sct ID:717181004 Hyperprolinemia type 2 (disorder) | PRO II | LA12522-1 | |
| Propionic acidemia Copyright http://snomed.info/sct ID:69080001 Propionic acidemia (disorder) | PROP | LA12523-9 | |
| Short-chain acyl-CoA dehydrogenase deficiency Copyright http://snomed.info/sct ID:124166007 Deficiency of butyryl-CoA dehydrogenase (disorder) | SCAD | LA12524-7 | |
| Short-chain L-3-hydroxy acyl-CoA dehydrogenase deficiency Copyright http://snomed.info/sct ID:237998000 Short chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency (disorder) | SCHAD | LA12525-4 | |
| Succinyl-CoA ligase deficiency Copyright http://snomed.info/sct ID:445275003 Deficiency of succinate-coenzyme A ligase (disorder) | SUCLA2 | LA12526-2 | |
| Trifunctional protein deficiency Copyright http://snomed.info/sct ID:237999008 Mitochondrial trifunctional protein deficiency (disorder) | TFP | LA12527-0 | |
| Tyrosinemia, type I Copyright http://snomed.info/sct ID:410056006 Tyrosinemia type I (disorder) | TYR-I | LA12528-8 | |
| Tyrosinemia, type II Copyright http://snomed.info/sct ID:4887000 Hypertyrosinemia, Richner-Hanhart type (disorder) | TYR-II | LA12529-6 | |
| Tyrosinemia, type III Copyright http://snomed.info/sct ID:415764005 Tyrosinemia type III (disorder) | TYR-III | LA12530-4 | |
| Very long-chain acyl-CoA dehydrogenase deficiency Copyright http://snomed.info/sct ID:237997005 Very long chain acyl-coenzyme A dehydrogenase deficiency (disorder) | VLCAD | LA12531-2 | |
| Biotinidase deficiency Copyright http://snomed.info/sct ID:8808004 Biotinidase deficiency (disorder) | BIO | LA12532-0 | |
| Congenital adrenal hyperplasia Copyright http://snomed.info/sct ID:237751000 Congenital adrenal hyperplasia (disorder) | CAH | LA12533-8 | |
| Cystic fibrosis Copyright http://snomed.info/sct ID:190905008 Cystic fibrosis (disorder) | CF | LA22202-8 | |
| Primary congenital hypothyroidism Copyright http://snomed.info/sct ID:190268003 Congenital hypothyroidism (disorder) | CH | LA12538-7 | |
| Secondary congenital hypothyroidism Copyright http://snomed.info/sct ID:82598004 Secondary hypothyroidism (disorder) | CH2 | LA12539-5 | |
| Glucose-6-phosphate dehydrogenase deficiency Copyright http://snomed.info/sct ID:124134002 Deficiency of glucose-6-phosphate dehydrogenase (disorder) | G6PD | LA12540-3 | |
| Galactoepimerase deficiency Copyright http://snomed.info/sct ID:8849004 Uridine diphosphate glucose-4-epimerase deficiency (disorder) | GALE | LA12541-1 | |
| Galactokinase deficiency Copyright http://snomed.info/sct ID:124302001 Deficiency of galactokinase (disorder) | GALT | LA12542-9 | |
| Classical galactosemia | LA21165-8 | ||
| Hb C-carrier Copyright http://snomed.info/sct ID:76050008 Hemoglobin C trait (disorder) | LA12602-1 | ||
| Hb D-carrier Copyright http://snomed.info/sct ID:7391009 Hemoglobin D trait (disorder) | LA12603-9 | ||
| Hb E-carrier Copyright http://snomed.info/sct ID:46248003 Hemoglobin E trait (disorder) | LA12604-7 | ||
| Hb O-Arab carrier | LA12605-4 | ||
| Hb S (sickle)-carrier Copyright http://snomed.info/sct ID:16402000 Sickle cell trait (disorder) | LA12606-2 | ||
| Hb C-disease Copyright http://snomed.info/sct ID:51053007 Hemoglobin C disease (disorder) | LA12607-0 | ||
| Hb C beta-thalassemia Copyright http://snomed.info/sct ID:119691000119106 Hemoglobin C/beta thalassemia disease (disorder) | LA12608-8 | ||
| Hb D-disease | LA12609-6 | ||
| Hb D beta-thalassemia Copyright http://snomed.info/sct ID:119701000119106 Hemoglobin D/beta thalassemia disease (disorder) | LA12610-4 | ||
| Hb beta zero-thalassemia Copyright http://snomed.info/sct ID:86715000 Beta zero thalassemia (disorder) | LA12611-2 | ||
| Hb E-disease Copyright http://snomed.info/sct ID:25065001 Hemoglobin E disease (disorder) | LA12612-0 | ||
| Hb E beta-thalassemia Copyright http://snomed.info/sct ID:234392002 Hemoglobin E/beta thalassemia disease (disorder) | LA12613-8 | ||
| Hb SS-disease (sickle cell anemia) Copyright http://snomed.info/sct ID:127040003 Sickle cell-hemoglobin SS disease (disorder) | LA12614-6 | ||
| Hb S beta-thalassemia Copyright http://snomed.info/sct ID:127041004 Sickle cell-beta-thalassemia (disorder) | LA12615-3 | ||
| Hb SC-disease Copyright http://snomed.info/sct ID:35434009 Sickle cell-hemoglobin C disease (disorder) | LA12616-1 | ||
| Hb SD-disease Copyright http://snomed.info/sct ID:25472008 Sickle cell-hemoglobin D disease (disorder) | LA12617-9 | ||
| Hb SE-disease Copyright http://snomed.info/sct ID:47024008 Sickle cell-hemoglobin E disease (disorder) | LA12618-7 | ||
| Hb S O-Arab disease Copyright http://snomed.info/sct ID:127048005 Sickle cell-Hemoglobin O Arab disease (disorder) | LA12619-5 | ||
| Hb S plus Hb other than A,C,D,E,O-Arab disease Copyright http://snomed.info/sct ID:23269001 Double heterozygous sickling disorder (disorder) | LA12620-3 | ||
| Hb disease other than A, C, D, E, H,O-Arab, S Copyright http://snomed.info/sct ID:80141007 Hemoglobinopathy (disorder) | LA12621-1 | ||
| Hb carrier other than C, D, E, S ,O-Arab | LA12622-9 | ||
| Congenital HIV Copyright http://snomed.info/sct ID:52079000 Congenital human immunodeficiency virus infection (disorder) | HIV | LA12565-0 | |
| Severe combined immunodeficiency Copyright http://snomed.info/sct ID:31323000 Severe combined immunodeficiency disease (disorder) | SCID | LA12566-8 | |
| Thyroid-binding globulin deficiency Copyright http://snomed.info/sct ID:237544006 Thyroid-binding globulin deficiency (disorder) | TBG | LA12567-6 | |
| Congenital toxoplasmosis Copyright http://snomed.info/sct ID:73893000 Congenital toxoplasmosis (disorder) | TOXO | LA12568-4 | |
| CIT-I or CIT-II or ASA | LA12569-2 | ||
| HCY or MET or CBL C | LA12570-0 | ||
| PKU or BIPT-BS or BIOPT-REG or H-PHE | LA12571-8 | ||
| TYR-1 or TYR-II or TYR-III | LA12572-6 | ||
| CPT-II or CACT | LA12573-4 | ||
| LCHAD or TFP | LA12574-2 | ||
| MCAD or SCAD or GA-2(MADD) | LA12575-9 | ||
| SCAD or EMA or IBG or GA-2 (MADD) | LA12576-7 | ||
| 2M3HBA or BKT-2 | LA12577-5 | ||
| IVA or 2MBG or GA-2 or EMA | LA12578-3 | ||
| PROP or CBL A or CBL B or MUT or CBL C or MCD | LA12579-1 | ||
| 3-MCC or 3-MCC (mat) or 3MGA or BKT or HMG or MCD or BIO | LA12915-7 | ||
| CUD or CUD (mat) or CPT-Ia | LA12916-5 | ||
| GA-1 or GA-2 | LA12917-3 | ||
| Fabry disease Copyright http://snomed.info/sct ID:16652001 Fabry's disease (disorder) | GLA | LA14036-0 | |
| Pompe disease Copyright http://snomed.info/sct ID:274864009 Glycogen storage disease due to acid maltase deficiency (disorder) | GAA | LA14037-8 | |
| Krabbe disease Copyright http://snomed.info/sct ID:192782005 Galactosylceramide beta-galactosidase deficiency (disorder) | GALC | LA14038-6 | |
| Gaucher disease Copyright http://snomed.info/sct ID:190794006 Glucosylceramide beta-glucosidase deficiency (disorder) | GBA | LA14039-4 | |
| Niemann Pick disease A/B Copyright http://snomed.info/sct ID:58459009 Sphingomyelin/cholesterol lipidosis (disorder) | ASM | LA14040-2 | |
| Hb H-disease Copyright http://snomed.info/sct ID:48553001 Hemoglobin H disease (disorder) | LA16007-9 | ||
| Hemoglobinopathies Copyright http://snomed.info/sct ID:80141007 Hemoglobinopathy (disorder) | LA16207-5 | ||
| Critical congenital heart disease | CCHD | LA20349-9 | |
| X-linked adrenoleukodystrophy Copyright http://snomed.info/sct ID:65389002 Adrenoleukodystrophy (disorder) | X-ALD | LA25796-6 | |
| Mucopolysaccharidosis type I Copyright http://snomed.info/sct ID:75610003 Mucopolysaccharidosis type I (disorder) | MPS-I | LA25797-4 | |
| Guanidinoacetate N-methyltransferase deficiency Copyright http://snomed.info/sct ID:124239003 Deficiency of guanidinoacetate methyltransferase (disorder) | GAMT | LA30113-7 | |
| L-arginine:glycine amidinotransferase deficiency Copyright http://snomed.info/sct ID:702440000 Cerebral creatine deficiency syndrome 3 (disorder) | AGAT | LA30114-5 | |
| X-linked creatine transporter (CRTR) deficiency Copyright http://snomed.info/sct ID:698290008 X-linked creatine deficiency (disorder) | CRTR | LA30492-5 | |
| Spinal muscular atrophy Copyright http://snomed.info/sct ID:5262007 Spinal muscular atrophy (disorder) | SMA | LA22279-6 | |
| Deficiency of guanidinoacetate methyltransferase (disorder) | LA34469-9 | ||
| Mucopolysaccharidosis type II (disorder) | LA34470-7 |
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
| 57794-0 | Newborn screening test results panel - DBS |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Estado del recién nacido con marcadores positivos: |
| es-MX | Spanish (Mexico) | Condiciones del recién nacido con marcadores positivos: |
| fr-FR | French (France) | Conditions néonatales avec marqueurs présents: |
| fr-BE | French (Belgium) | Conditions néonatales avec marqueurs positifs: |
| it-IT | Italian (Italy) | Neonato, condizioni con marcatori positivi: Synonyms: Chimica Condizioni del neonato con marcatori positivi Presenza o Identità Punto nel tempo (episodio) Sangue Spot sangue secco |
| pt-BR | Portuguese (Brazil) | Condições de recém-nascidos com marcadores positivos: Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Новорождённый состояния с позитивными маркерами: Synonyms: Кровь Кровь сухая капля Номинальный; |
| tr-TR | Turkish (Turkey) | Pozitif belirteçli yenidoğan durumları: |
| zh-CN | Chinese (China) | 带有阳性标志的新生儿健康状况: Synonyms: 全血斑点(滤纸); |
Third Party Copyright
This material includes SNOMED Clinical Terms® (SNOMED CT®) which is used by permission of the International Health Terminology Standards Development Organisation (IHTSDO) under license. All rights reserved. SNOMED CT® was originally created by The College of American Pathologists. "SNOMED" and "SNOMED CT" are registered trademarks of the IHTSDO.
This material includes content from the US Edition to SNOMED CT, which is developed and maintained by the U.S. National Library of Medicine and is available to authorized UMLS Metathesaurus Licensees from the UTS Downloads site at https://uts.nlm.nih.gov.
Use of SNOMED CT content is subject to the terms and conditions set forth in the SNOMED CT Affiliate License Agreement. It is the responsibility of those implementing this product to ensure they are appropriately licensed and for more information on the license, including how to register as an Affiliate Licensee, please refer to http://www.snomed.org/snomed-ct/get-snomed-ct or info@snomed.org<mailto:info@snomed.org>. This may incur a fee in SNOMED International non-Member countries.
57720-5 Newborn conditions with equivocal markers [Identifier] in DBS
Observation Required in Panel
Required
Fully-Specified Name
- Component
- Newborn conditions with equivocal markers
- Property
- Prid
- Time
- Pt
- System
- Bld.dot
- Scale
- Nom
- Method
Additional Names
- Short Name
- NB conditions with equivocal markers
- Display Name
- Newborn conditions with equivocal markers Nom (DBS)
- Consumer Name Alpha Get Info
- Newborn conditions with equivocal markers, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.29
- Last Updated
- Version 2.73
- Change Reason
- Changed answer list from "Normative" to "Preferred" to fit the current LOINC model.
- Order vs. Observation
- Observation
- Common Test Rank Get Info
- 17163
Preferred Answer List LL835-0
| Answer | Code | Score | Answer ID |
|---|---|---|---|
| None Copyright http://snomed.info/sct ID:260413007 None (qualifier value) | LA137-2 | ||
| Hearing loss Copyright http://snomed.info/sct ID:15188001 Hearing loss (disorder) | HEAR | LA24366-9 | |
| 2-Methyl-3-hydroxybutyric aciduria Copyright http://snomed.info/sct ID:791000124107 2-methyl-3-hydroxybutyric aciduria (disorder) | 2M3HBA | LA12464-6 | |
| 2-Methylbutyrylglycinuria Copyright http://snomed.info/sct ID:445596006 2-methylbutyrylglycinuria (disorder) | 2MBG | LA12465-3 | |
| 3-Methylcrotonyl-CoA carboxylase deficiency Copyright http://snomed.info/sct ID:13144005 Methylcrotonyl-coenzyme A carboxylase deficiency (disorder) | 3-MCC | LA12466-1 | |
| 3-Methylcrotonyl-CoA carboxylase deficiency (maternal) Copyright http://snomed.info/sct ID:206001006 Fetal or neonatal effect of maternal problem unrelated to pregnancy (disorder) | 3-MCC (mat) | LA12467-9 | |
| 3-Methylglutaconic aciduria Copyright http://snomed.info/sct ID:237950009 3-Methylglutaconic aciduria (disorder) | 3MGA | LA12468-7 | |
| Pyroglutamic acidemia Copyright http://snomed.info/sct ID:39112005 Glutathione synthase deficiency with 5-oxoprolinuria (disorder) | 5-OXO | LA12469-5 | |
| Argininemia | ARG | LA21161-7 | |
| Argininosuccinic aciduria | ASA | LA21162-5 | |
| Biopterin defect in cofactor biosynthesis Copyright http://snomed.info/sct ID:237914002 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency (disorder) | BIOPT-BS | LA12472-9 | |
| Biopterin defect in cofactor regeneration Copyright http://snomed.info/sct ID:58256000 Dihydropteridine reductase deficiency (disorder) | BIOPT-REG | LA12473-7 | |
| Beta-ketothiolase deficiency Copyright http://snomed.info/sct ID:237953006 Mitochondrial 2-methylacetoacetyl-CoA thiolase deficiency - potassium stimulated (disorder) | BKT | LA12474-5 | |
| Carnitine acylcarnitine translocase deficiency Copyright http://snomed.info/sct ID:238003000 Carnitine acylcarnitine translocase deficiency (disorder) | CACT | LA12475-2 | |
| Cobalamin A disease Copyright http://snomed.info/sct ID:73843004 Cobalamin A disease (disorder) | CBL A | LA12476-0 | |
| Cobalamin B disease Copyright http://snomed.info/sct ID:82245003 Cobalamin B disease (disorder) | CBL B | LA12477-8 | |
| Cobalamin C disease Copyright http://snomed.info/sct ID:74653006 Cobalamin C disease (disorder) | CBL C | LA12478-6 | |
| Cobalamin D disease Copyright http://snomed.info/sct ID:31220004 Cobalamin D disease (disorder) | CBL D | LA12479-4 | |
| Cobalamin E disease Copyright http://snomed.info/sct ID:360373000 Homocystinuria vitamin B12-responsive type III (disorder) | CBL E | LA12480-2 | |
| CBL G type Methylcobalamin deficiency Copyright http://snomed.info/sct ID:721187005 Methylcobalamin deficiency type cbl G (disorder) | CBL G | LA12481-0 | |
| Citrullinemia, type I Copyright http://snomed.info/sct ID:398680004 Citrullinemia (disorder) | CIT-I | LA12482-8 | |
| Citrullinemia, type II Copyright http://snomed.info/sct ID:716863007 Citrullinemia type II (disorder) | CIT-II | LA12483-6 | |
| Carbamoyl-phosphate synthase deficiency Copyright http://snomed.info/sct ID:62522004 Congenital hyperammonemia, type I (disorder) | CPS | LA12484-4 | |
| Carnitine palmitoyltransferase type I deficiency Copyright http://snomed.info/sct ID:238001003 Carnitine palmitoyltransferase I deficiency (disorder) | CPT-Ia | LA12485-1 | |
| Carnitine palmitoyltransferase type II deficiency Copyright http://snomed.info/sct ID:238002005 Carnitine palmitoyltransferase II deficiency (disorder) | CPT-II | LA12486-9 | |
| Carnitine uptake deficiency/carnitine transport defect Copyright http://snomed.info/sct ID:21764004 Renal carnitine transport defect (disorder) | CUD | LA12487-7 | |
| Carnitine uptake deficiency/carnitine transport defect (maternal) Copyright http://snomed.info/sct ID:206001006 Fetal or neonatal effect of maternal problem unrelated to pregnancy (disorder) | CUD (mat) | LA12488-5 | |
| 2,4-Dienoyl-CoA reductase deficiency Copyright http://snomed.info/sct ID:444944006 Deficiency of 2,4-dienoyl-coenzyme A reductase (disorder) | De-Red | LA12489-3 | |
| Dihydrolipoamide dehydrogenase deficiency Copyright http://snomed.info/sct ID:29914000 Dihydrolipoamide dehydrogenase deficiency (disorder) | E3 | LA12490-1 | |
| Ethylmalonic encephalopathy Copyright http://snomed.info/sct ID:723307008 Ethylmalonic encephalopathy (disorder) | EMA | LA12491-9 | |
| Formiminoglutamic acidemia Copyright http://snomed.info/sct ID:59761008 Glutamate formiminotransferase deficiency (disorder) | FIGLU | LA12492-7 | |
| Glutaric acidemia type I Copyright http://snomed.info/sct ID:76175005 Glutaric aciduria, type 1 (disorder) | GA-1 | LA12493-5 | |
| Glutaric acidemia (maternal) Copyright http://snomed.info/sct ID:206001006 Fetal or neonatal effect of maternal problem unrelated to pregnancy (disorder) | GA-1 (mat) | LA12494-3 | |
| Glutaric acidemia type II Copyright http://snomed.info/sct ID:22886006 Glutaric aciduria, type 2 (disorder) | GA-2 | LA12495-0 | |
| Homocystinuria Copyright http://snomed.info/sct ID:11282001 Homocystinuria (disorder) | HCY | LA12496-8 | |
| Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome Copyright http://snomed.info/sct ID:30287008 Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome (disorder) | HHH | LA12497-6 | |
| Histidinemia Copyright http://snomed.info/sct ID:410058007 Histidinemia (disorder) | HIS | LA12498-4 | |
| 3-Hydroxy-3-methylglutaric aciduria Copyright http://snomed.info/sct ID:410059004 Hydroxymethylglutaric aciduria (disorder) | HMG | LA12499-2 | |
| Hyperphenylalaninemia (variant, benign) Copyright http://snomed.info/sct ID:68528007 Hyperphenylalaninemia (disorder) | H-PHE | LA12500-7 | |
| Hyperlysinemia Copyright http://snomed.info/sct ID:58558003 Hyperlysinemia (disorder) | Hyper LYS | LA12501-5 | |
| Girate atrophy of the retina Copyright http://snomed.info/sct ID:314467007 Gyrate atrophy (disorder) | Hyper ORN | LA12502-3 | |
| Valinemia Copyright http://snomed.info/sct ID:47719001 Hypervalinemia (disorder) | Hyper VAL | LA12503-1 | |
| Isobutyrylglycinuria Copyright http://snomed.info/sct ID:445571008 Isobutyrylglycinuria (disorder) | IBG | LA12504-9 | |
| Isovaleric acidemia Copyright http://snomed.info/sct ID:87827003 Isovaleryl-coenzyme A dehydrogenase deficiency (disorder) | IVA | LA12505-6 | |
| Primary lactic acidemia Copyright http://snomed.info/sct ID:190882007 Lactic acidemia (disorder) | LACTIC | LA12506-4 | |
| Long-chain L-3 hydroxyacyl-CoA dehydrogenase deficiency Copyright http://snomed.info/sct ID:307127004 Isolated long chain hydroxyacyl-CoA dehydrogenase deficiency (disorder) | LCHAD | LA12507-2 | |
| Malonic acidemia Copyright http://snomed.info/sct ID:124594007 Deficiency of malonyl-coenzyme A decarboxylase (disorder) | MAL | LA12508-0 | |
| Medium-chain acyl-CoA dehydrogenase deficiency Copyright http://snomed.info/sct ID:128596003 Medium-chain acyl-coenzyme A dehydrogenase deficiency (disorder) | MCAD | LA12509-8 | |
| Holoocarboxylase synthase deficiency Copyright http://snomed.info/sct ID:360369003 Holocarboxylase synthase deficiency (disorder) | MCD | LA12510-6 | |
| Medium-chain ketoacyl-CoA thiolase deficiency Copyright http://snomed.info/sct ID:124265004 Deficiency of acetyl-coenzyme A acyltransferase (disorder) | MCKAT | LA12511-4 | |
| Hypermethioninemia Copyright http://snomed.info/sct ID:43123004 Hypermethioninemia (disorder) | MET | LA12512-2 | |
| Maple syrup urine disease Copyright http://snomed.info/sct ID:27718001 Maple syrup urine disease (disorder) | MSUD | LA21168-2 | |
| Methylene tetrahydrofolate reductase deficiency Copyright http://snomed.info/sct ID:41797007 5,10-Methylenetetrahydrofolate reductase deficiency (disorder) | MTHFR | LA12514-8 | |
| Methylmalonic acidemia Copyright http://snomed.info/sct ID:124680001 Deficiency of methylmalonyl-coenzyme A mutase (disorder) | MUT | LA12515-5 | |
| Nonketotic hyperglycinemia (glycine encephalopathy) Copyright http://snomed.info/sct ID:237939006 Non-ketotic hyperglycinemia (disorder) | NKHG | LA12516-3 | |
| Hydroxyprolinemia Copyright http://snomed.info/sct ID:25739007 Hyperhydroxyprolinemia (disorder) | OH PRO | LA12517-1 | |
| Ornithine transcarbamylase deficiency Copyright http://snomed.info/sct ID:80908008 Ornithine carbamoyltransferase deficiency (disorder) | OTC | LA12518-9 | |
| Pyruvate carboxylase deficiency Copyright http://snomed.info/sct ID:87694001 Pyruvate carboxylase deficiency (disorder) | PC | LA12519-7 | |
| Classic phenylketonuria Copyright http://snomed.info/sct ID:7573000 Classical phenylketonuria (disorder) | PKU | LA12520-5 | |
| Hyperprolinemia type I Copyright http://snomed.info/sct ID:61071003 Proline dehydrogenase deficiency (disorder) | PRO I | LA12521-3 | |
| Hyperprolinemia type II Copyright http://snomed.info/sct ID:717181004 Hyperprolinemia type 2 (disorder) | PRO II | LA12522-1 | |
| Propionic acidemia Copyright http://snomed.info/sct ID:69080001 Propionic acidemia (disorder) | PROP | LA12523-9 | |
| Short-chain acyl-CoA dehydrogenase deficiency Copyright http://snomed.info/sct ID:124166007 Deficiency of butyryl-CoA dehydrogenase (disorder) | SCAD | LA12524-7 | |
| Short-chain L-3-hydroxy acyl-CoA dehydrogenase deficiency Copyright http://snomed.info/sct ID:237998000 Short chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency (disorder) | SCHAD | LA12525-4 | |
| Succinyl-CoA ligase deficiency Copyright http://snomed.info/sct ID:445275003 Deficiency of succinate-coenzyme A ligase (disorder) | SUCLA2 | LA12526-2 | |
| Trifunctional protein deficiency Copyright http://snomed.info/sct ID:237999008 Mitochondrial trifunctional protein deficiency (disorder) | TFP | LA12527-0 | |
| Tyrosinemia, type I Copyright http://snomed.info/sct ID:410056006 Tyrosinemia type I (disorder) | TYR-I | LA12528-8 | |
| Tyrosinemia, type II Copyright http://snomed.info/sct ID:4887000 Hypertyrosinemia, Richner-Hanhart type (disorder) | TYR-II | LA12529-6 | |
| Tyrosinemia, type III Copyright http://snomed.info/sct ID:415764005 Tyrosinemia type III (disorder) | TYR-III | LA12530-4 | |
| Very long-chain acyl-CoA dehydrogenase deficiency Copyright http://snomed.info/sct ID:237997005 Very long chain acyl-coenzyme A dehydrogenase deficiency (disorder) | VLCAD | LA12531-2 | |
| Biotinidase deficiency Copyright http://snomed.info/sct ID:8808004 Biotinidase deficiency (disorder) | BIO | LA12532-0 | |
| Congenital adrenal hyperplasia Copyright http://snomed.info/sct ID:237751000 Congenital adrenal hyperplasia (disorder) | CAH | LA12533-8 | |
| Cystic fibrosis Copyright http://snomed.info/sct ID:190905008 Cystic fibrosis (disorder) | CF | LA22202-8 | |
| Primary congenital hypothyroidism Copyright http://snomed.info/sct ID:190268003 Congenital hypothyroidism (disorder) | CH | LA12538-7 | |
| Secondary congenital hypothyroidism Copyright http://snomed.info/sct ID:82598004 Secondary hypothyroidism (disorder) | CH2 | LA12539-5 | |
| Glucose-6-phosphate dehydrogenase deficiency Copyright http://snomed.info/sct ID:124134002 Deficiency of glucose-6-phosphate dehydrogenase (disorder) | G6PD | LA12540-3 | |
| Galactoepimerase deficiency Copyright http://snomed.info/sct ID:8849004 Uridine diphosphate glucose-4-epimerase deficiency (disorder) | GALE | LA12541-1 | |
| Galactokinase deficiency Copyright http://snomed.info/sct ID:124302001 Deficiency of galactokinase (disorder) | GALT | LA12542-9 | |
| Classical galactosemia | LA21165-8 | ||
| Hb C-carrier Copyright http://snomed.info/sct ID:76050008 Hemoglobin C trait (disorder) | LA12602-1 | ||
| Hb D-carrier Copyright http://snomed.info/sct ID:7391009 Hemoglobin D trait (disorder) | LA12603-9 | ||
| Hb E-carrier Copyright http://snomed.info/sct ID:46248003 Hemoglobin E trait (disorder) | LA12604-7 | ||
| Hb O-Arab carrier | LA12605-4 | ||
| Hb S (sickle)-carrier Copyright http://snomed.info/sct ID:16402000 Sickle cell trait (disorder) | LA12606-2 | ||
| Hb C-disease Copyright http://snomed.info/sct ID:51053007 Hemoglobin C disease (disorder) | LA12607-0 | ||
| Hb C beta-thalassemia Copyright http://snomed.info/sct ID:119691000119106 Hemoglobin C/beta thalassemia disease (disorder) | LA12608-8 | ||
| Hb D-disease | LA12609-6 | ||
| Hb D beta-thalassemia Copyright http://snomed.info/sct ID:119701000119106 Hemoglobin D/beta thalassemia disease (disorder) | LA12610-4 | ||
| Hb beta zero-thalassemia Copyright http://snomed.info/sct ID:86715000 Beta zero thalassemia (disorder) | LA12611-2 | ||
| Hb E-disease Copyright http://snomed.info/sct ID:25065001 Hemoglobin E disease (disorder) | LA12612-0 | ||
| Hb E beta-thalassemia Copyright http://snomed.info/sct ID:234392002 Hemoglobin E/beta thalassemia disease (disorder) | LA12613-8 | ||
| Hb SS-disease (sickle cell anemia) Copyright http://snomed.info/sct ID:127040003 Sickle cell-hemoglobin SS disease (disorder) | LA12614-6 | ||
| Hb S beta-thalassemia Copyright http://snomed.info/sct ID:127041004 Sickle cell-beta-thalassemia (disorder) | LA12615-3 | ||
| Hb SC-disease Copyright http://snomed.info/sct ID:35434009 Sickle cell-hemoglobin C disease (disorder) | LA12616-1 | ||
| Hb SD-disease Copyright http://snomed.info/sct ID:25472008 Sickle cell-hemoglobin D disease (disorder) | LA12617-9 | ||
| Hb SE-disease Copyright http://snomed.info/sct ID:47024008 Sickle cell-hemoglobin E disease (disorder) | LA12618-7 | ||
| Hb S O-Arab disease Copyright http://snomed.info/sct ID:127048005 Sickle cell-Hemoglobin O Arab disease (disorder) | LA12619-5 | ||
| Hb S plus Hb other than A,C,D,E,O-Arab disease Copyright http://snomed.info/sct ID:23269001 Double heterozygous sickling disorder (disorder) | LA12620-3 | ||
| Hb disease other than A, C, D, E, H,O-Arab, S Copyright http://snomed.info/sct ID:80141007 Hemoglobinopathy (disorder) | LA12621-1 | ||
| Hb carrier other than C, D, E, S ,O-Arab | LA12622-9 | ||
| Congenital HIV Copyright http://snomed.info/sct ID:52079000 Congenital human immunodeficiency virus infection (disorder) | HIV | LA12565-0 | |
| Severe combined immunodeficiency Copyright http://snomed.info/sct ID:31323000 Severe combined immunodeficiency disease (disorder) | SCID | LA12566-8 | |
| Thyroid-binding globulin deficiency Copyright http://snomed.info/sct ID:237544006 Thyroid-binding globulin deficiency (disorder) | TBG | LA12567-6 | |
| Congenital toxoplasmosis Copyright http://snomed.info/sct ID:73893000 Congenital toxoplasmosis (disorder) | TOXO | LA12568-4 | |
| CIT-I or CIT-II or ASA | LA12569-2 | ||
| HCY or MET or CBL C | LA12570-0 | ||
| PKU or BIPT-BS or BIOPT-REG or H-PHE | LA12571-8 | ||
| TYR-1 or TYR-II or TYR-III | LA12572-6 | ||
| CPT-II or CACT | LA12573-4 | ||
| LCHAD or TFP | LA12574-2 | ||
| MCAD or SCAD or GA-2(MADD) | LA12575-9 | ||
| SCAD or EMA or IBG or GA-2 (MADD) | LA12576-7 | ||
| 2M3HBA or BKT-2 | LA12577-5 | ||
| IVA or 2MBG or GA-2 or EMA | LA12578-3 | ||
| PROP or CBL A or CBL B or MUT or CBL C or MCD | LA12579-1 | ||
| 3-MCC or 3-MCC (mat) or 3MGA or BKT or HMG or MCD or BIO | LA12915-7 | ||
| CUD or CUD (mat) or CPT-Ia | LA12916-5 | ||
| GA-1 or GA-2 | LA12917-3 | ||
| Fabry disease Copyright http://snomed.info/sct ID:16652001 Fabry's disease (disorder) | GLA | LA14036-0 | |
| Pompe disease Copyright http://snomed.info/sct ID:274864009 Glycogen storage disease due to acid maltase deficiency (disorder) | GAA | LA14037-8 | |
| Krabbe disease Copyright http://snomed.info/sct ID:192782005 Galactosylceramide beta-galactosidase deficiency (disorder) | GALC | LA14038-6 | |
| Gaucher disease Copyright http://snomed.info/sct ID:190794006 Glucosylceramide beta-glucosidase deficiency (disorder) | GBA | LA14039-4 | |
| Niemann Pick disease A/B Copyright http://snomed.info/sct ID:58459009 Sphingomyelin/cholesterol lipidosis (disorder) | ASM | LA14040-2 | |
| Hb H-disease Copyright http://snomed.info/sct ID:48553001 Hemoglobin H disease (disorder) | LA16007-9 | ||
| Hemoglobinopathies Copyright http://snomed.info/sct ID:80141007 Hemoglobinopathy (disorder) | LA16207-5 | ||
| Critical congenital heart disease | CCHD | LA20349-9 | |
| X-linked adrenoleukodystrophy Copyright http://snomed.info/sct ID:65389002 Adrenoleukodystrophy (disorder) | X-ALD | LA25796-6 | |
| Mucopolysaccharidosis type I Copyright http://snomed.info/sct ID:75610003 Mucopolysaccharidosis type I (disorder) | MPS-I | LA25797-4 | |
| Guanidinoacetate N-methyltransferase deficiency Copyright http://snomed.info/sct ID:124239003 Deficiency of guanidinoacetate methyltransferase (disorder) | GAMT | LA30113-7 | |
| L-arginine:glycine amidinotransferase deficiency Copyright http://snomed.info/sct ID:702440000 Cerebral creatine deficiency syndrome 3 (disorder) | AGAT | LA30114-5 | |
| X-linked creatine transporter (CRTR) deficiency Copyright http://snomed.info/sct ID:698290008 X-linked creatine deficiency (disorder) | CRTR | LA30492-5 | |
| Spinal muscular atrophy Copyright http://snomed.info/sct ID:5262007 Spinal muscular atrophy (disorder) | SMA | LA22279-6 | |
| Deficiency of guanidinoacetate methyltransferase (disorder) | LA34469-9 | ||
| Mucopolysaccharidosis type II (disorder) | LA34470-7 |
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
| 57794-0 | Newborn screening test results panel - DBS |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Estado del recién nacido con marcadores equívocos: |
| es-MX | Spanish (Mexico) | Condiciones del recién nacido con marcadores equívocos: |
| fr-FR | French (France) | Conditions néonatales avec marqueurs équivoques: |
| fr-BE | French (Belgium) | Conditions néonatales avec marqueurs équivoques: |
| it-IT | Italian (Italy) | Neonato, condizioni con marcatori sospetti: Synonyms: Chimica Condizioni del neonato con marcatori sospetti Presenza o Identità Punto nel tempo (episodio) Sangue Spot sangue secco |
| pt-BR | Portuguese (Brazil) | Condições de recém-nascidos com marcadores equívocos: Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Новорождённый состояние с неопределённые маркеры: Synonyms: Кровь Кровь сухая капля Номинальный; |
| tr-TR | Turkish (Turkey) | Kuşkulu belirteçli yenidoğan şartları: |
| zh-CN | Chinese (China) | 带有模糊标志的新生儿健康状况: Synonyms: 全血斑点(滤纸); |
Third Party Copyright
This material includes SNOMED Clinical Terms® (SNOMED CT®) which is used by permission of the International Health Terminology Standards Development Organisation (IHTSDO) under license. All rights reserved. SNOMED CT® was originally created by The College of American Pathologists. "SNOMED" and "SNOMED CT" are registered trademarks of the IHTSDO.
This material includes content from the US Edition to SNOMED CT, which is developed and maintained by the U.S. National Library of Medicine and is available to authorized UMLS Metathesaurus Licensees from the UTS Downloads site at https://uts.nlm.nih.gov.
Use of SNOMED CT content is subject to the terms and conditions set forth in the SNOMED CT Affiliate License Agreement. It is the responsibility of those implementing this product to ensure they are appropriately licensed and for more information on the license, including how to register as an Affiliate Licensee, please refer to http://www.snomed.org/snomed-ct/get-snomed-ct or info@snomed.org<mailto:info@snomed.org>. This may incur a fee in SNOMED International non-Member countries.
57724-7 Newborn screening short narrative summary
Observation Required in Panel
Optional
Fully-Specified Name
- Component
- Newborn screening short narrative summary
- Property
- Txt
- Time
- Pt
- System
- ^Patient
- Scale
- Nar
- Method
Additional Names
- Short Name
- NBS short summary
- Display Name
- NBS short narrative summary Nar
- Consumer Name Alpha Get Info
- NBS short narrative summary
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.29
- Last Updated
- Version 2.73
- Order vs. Observation
- Observation
- Common Test Rank Get Info
- 17668
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
| 57794-0 | Newborn screening test results panel - DBS |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Resumen narrativo corto del cribado del recién nacido: |
| es-MX | Spanish (Mexico) | Breve resumen narrativo de la detección del recién nacido: |
| fr-FR | French (France) | Dépistage néonatal résumé compte rendu: |
| fr-BE | French (Belgium) | Screening Nouveau-né. Résumé court: |
| it-IT | Italian (Italy) | Screening neonatale, breve resoconto: Synonyms: Breve resoconto di screening neonatale Chimica paziente Punto nel tempo (episodio) Testo |
| nl-NL | Dutch (Netherlands) | pasgeborene screening korte tekstuele samnvatting: |
| pt-BR | Portuguese (Brazil) | Triagem neonatal pequeno sumário narrativo: Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Новорождённый скрининг краткий описательный краткие сведения: Synonyms: Описательный Текст Точка во времени; |
| tr-TR | Turkish (Turkey) | Yenidoğan tarama kısa yazılı özet: |
| zh-CN | Chinese (China) | 新生儿筛查简述摘要: Synonyms: Asympt SCN 化学; |
57129-9 Full newborn screening summary report for display or printing
Term Description
This code indicates that the OBX-5 carries a summary new born screen report as formatted text. Use HL7 type FT or if you want to see as PDF use HL7 encoded data type (ED) and send as binary data in the OBX-5. It is an option entry that provides a convenient way for laboratories to send reports for display and/or printing to clinicians with whatever format they now deliver. If sent as a PDF it could include letter head, water marks etc.
Source: Regenstrief LOINC
Observation Required in Panel
Optional
Fully-Specified Name
- Component
- Full newborn screening summary report for display or printing
- Property
- -
- Time
- Pt
- System
- ^Patient
- Scale
- Doc
- Method
Additional Names
- Short Name
- Full NBS summary for display/printing
- Display Name
- Full NBS summary report for display or printing Doc
- Consumer Name Alpha Get Info
- Full NBS Summary Report for Display Or Printing
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.29
- Last Updated
- Version 2.38
- Order vs. Observation
- Observation
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
| 57794-0 | Newborn screening test results panel - DBS |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Informe de cribado total en el recién nacido para su visualización o impresión: |
| es-MX | Spanish (Mexico) | Informe resumido completo de las pruebas de detección del recién nacido para su visualización o impresión: |
| it-IT | Italian (Italy) | Screening neonatale completo, referto generale per la visualizzazione o la stampa: Synonyms: Chimica paziente Punto nel tempo (episodio) Referto Referto generale di screening neonatale completo p |
| nl-NL | Dutch (Netherlands) | volledig verslag screening nieuwgeborene voor weergave en afdrukken: Synonyms: volledige pasgeborene screening samenvattend rapport voor weergave of om te printen |
| pt-BR | Portuguese (Brazil) | Relatório completo de síntese de Triagem Neonatal para exibição ou impressão: Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Полный новорождённый скрининг краткие сведения отчёт для вывода на экран или печати: Synonyms: Документ Точка во времени; |
| tr-TR | Turkish (Turkey) | Tam yenidoğan tarama özet raporu görüntü veya baskı için: |
| zh-CN | Chinese (China) | 适用于显示或打印的全面新生儿筛查摘要报告: Synonyms: Asympt SCN 临床文档型; |
57719-7 Conditions tested for in this newborn screening study [Identifier] in DBS
Observation Required in Panel
Required
Fully-Specified Name
- Component
- Conditions tested for in this newborn screening study
- Property
- ID
- Time
- Pt
- System
- Bld.dot
- Scale
- Nom
- Method
Additional Names
- Short Name
- Conditions tested for in NBS study DBS
- Display Name
- Conditions tested for in this NBS study Nom (DBS) [ID]
- Consumer Name Alpha Get Info
- Conditions Tested for in This NBS Study, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.29
- Last Updated
- Version 2.73
- Change Reason
- Changed answer list from "Normative" to "Preferred" to fit the current LOINC model.
- Order vs. Observation
- Observation
- Common Test Rank Get Info
- 673
Preferred Answer List LL841-8
| Answer | Code | Score | Answer ID |
|---|---|---|---|
| Hemoglobin C crystals | LA11231-0 | ||
| Hearing loss Copyright http://snomed.info/sct ID:15188001 Hearing loss (disorder) | HEAR | LA24366-9 | |
| 2-Methyl-3-hydroxybutyric aciduria Copyright http://snomed.info/sct ID:791000124107 2-methyl-3-hydroxybutyric aciduria (disorder) | 2M3HBA | LA12464-6 | |
| 2-Methylbutyrylglycinuria Copyright http://snomed.info/sct ID:445596006 2-methylbutyrylglycinuria (disorder) | 2MBG | LA12465-3 | |
| 3-Methylcrotonyl-CoA carboxylase deficiency Copyright http://snomed.info/sct ID:13144005 Methylcrotonyl-coenzyme A carboxylase deficiency (disorder) | 3-MCC | LA12466-1 | |
| 3-Methylcrotonyl-CoA carboxylase deficiency (maternal) Copyright http://snomed.info/sct ID:206001006 Fetal or neonatal effect of maternal problem unrelated to pregnancy (disorder) | 3-MCC (mat) | LA12467-9 | |
| 3-Methylglutaconic aciduria Copyright http://snomed.info/sct ID:237950009 3-Methylglutaconic aciduria (disorder) | 3MGA | LA12468-7 | |
| Pyroglutamic acidemia Copyright http://snomed.info/sct ID:39112005 Glutathione synthase deficiency with 5-oxoprolinuria (disorder) | 5-OXO | LA12469-5 | |
| Argininemia | ARG | LA21161-7 | |
| Argininosuccinic aciduria | ASA | LA21162-5 | |
| Biopterin defect in cofactor biosynthesis Copyright http://snomed.info/sct ID:237914002 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency (disorder) | BIOPT-BS | LA12472-9 | |
| Biopterin defect in cofactor regeneration Copyright http://snomed.info/sct ID:58256000 Dihydropteridine reductase deficiency (disorder) | BIOPT-REG | LA12473-7 | |
| Beta-ketothiolase deficiency Copyright http://snomed.info/sct ID:237953006 Mitochondrial 2-methylacetoacetyl-CoA thiolase deficiency - potassium stimulated (disorder) | BKT | LA12474-5 | |
| Carnitine acylcarnitine translocase deficiency Copyright http://snomed.info/sct ID:238003000 Carnitine acylcarnitine translocase deficiency (disorder) | CACT | LA12475-2 | |
| Cobalamin A disease Copyright http://snomed.info/sct ID:73843004 Cobalamin A disease (disorder) | CBL A | LA12476-0 | |
| Cobalamin B disease Copyright http://snomed.info/sct ID:82245003 Cobalamin B disease (disorder) | CBL B | LA12477-8 | |
| Cobalamin C disease Copyright http://snomed.info/sct ID:74653006 Cobalamin C disease (disorder) | CBL C | LA12478-6 | |
| Cobalamin D disease Copyright http://snomed.info/sct ID:31220004 Cobalamin D disease (disorder) | CBL D | LA12479-4 | |
| Cobalamin E disease Copyright http://snomed.info/sct ID:360373000 Homocystinuria vitamin B12-responsive type III (disorder) | CBL E | LA12480-2 | |
| CBL G type Methylcobalamin deficiency Copyright http://snomed.info/sct ID:721187005 Methylcobalamin deficiency type cbl G (disorder) | CBL G | LA12481-0 | |
| Citrullinemia, type I Copyright http://snomed.info/sct ID:398680004 Citrullinemia (disorder) | CIT-I | LA12482-8 | |
| Citrullinemia, type II Copyright http://snomed.info/sct ID:716863007 Citrullinemia type II (disorder) | CIT-II | LA12483-6 | |
| Carbamoyl-phosphate synthase deficiency Copyright http://snomed.info/sct ID:62522004 Congenital hyperammonemia, type I (disorder) | CPS | LA12484-4 | |
| Carnitine palmitoyltransferase type I deficiency Copyright http://snomed.info/sct ID:238001003 Carnitine palmitoyltransferase I deficiency (disorder) | CPT-Ia | LA12485-1 | |
| Carnitine palmitoyltransferase type II deficiency Copyright http://snomed.info/sct ID:238002005 Carnitine palmitoyltransferase II deficiency (disorder) | CPT-II | LA12486-9 | |
| Carnitine uptake deficiency/carnitine transport defect Copyright http://snomed.info/sct ID:21764004 Renal carnitine transport defect (disorder) | CUD | LA12487-7 | |
| Carnitine uptake deficiency/carnitine transport defect (maternal) Copyright http://snomed.info/sct ID:206001006 Fetal or neonatal effect of maternal problem unrelated to pregnancy (disorder) | CUD (mat) | LA12488-5 | |
| 2,4-Dienoyl-CoA reductase deficiency Copyright http://snomed.info/sct ID:444944006 Deficiency of 2,4-dienoyl-coenzyme A reductase (disorder) | De-Red | LA12489-3 | |
| Dihydrolipoamide dehydrogenase deficiency Copyright http://snomed.info/sct ID:29914000 Dihydrolipoamide dehydrogenase deficiency (disorder) | E3 | LA12490-1 | |
| Ethylmalonic encephalopathy Copyright http://snomed.info/sct ID:723307008 Ethylmalonic encephalopathy (disorder) | EMA | LA12491-9 | |
| Formiminoglutamic acidemia Copyright http://snomed.info/sct ID:59761008 Glutamate formiminotransferase deficiency (disorder) | FIGLU | LA12492-7 | |
| Glutaric acidemia type I Copyright http://snomed.info/sct ID:76175005 Glutaric aciduria, type 1 (disorder) | GA-1 | LA12493-5 | |
| Glutaric acidemia (maternal) Copyright http://snomed.info/sct ID:206001006 Fetal or neonatal effect of maternal problem unrelated to pregnancy (disorder) | GA-1 (mat) | LA12494-3 | |
| Glutaric acidemia type II Copyright http://snomed.info/sct ID:22886006 Glutaric aciduria, type 2 (disorder) | GA-2 | LA12495-0 | |
| Homocystinuria Copyright http://snomed.info/sct ID:11282001 Homocystinuria (disorder) | HCY | LA12496-8 | |
| Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome Copyright http://snomed.info/sct ID:30287008 Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome (disorder) | HHH | LA12497-6 | |
| Histidinemia Copyright http://snomed.info/sct ID:410058007 Histidinemia (disorder) | HIS | LA12498-4 | |
| 3-Hydroxy-3-methylglutaric aciduria Copyright http://snomed.info/sct ID:410059004 Hydroxymethylglutaric aciduria (disorder) | HMG | LA12499-2 | |
| Hyperphenylalaninemia (variant, benign) Copyright http://snomed.info/sct ID:68528007 Hyperphenylalaninemia (disorder) | H-PHE | LA12500-7 | |
| Hyperlysinemia Copyright http://snomed.info/sct ID:58558003 Hyperlysinemia (disorder) | Hyper LYS | LA12501-5 | |
| Girate atrophy of the retina Copyright http://snomed.info/sct ID:314467007 Gyrate atrophy (disorder) | Hyper ORN | LA12502-3 | |
| Valinemia Copyright http://snomed.info/sct ID:47719001 Hypervalinemia (disorder) | Hyper VAL | LA12503-1 | |
| Isobutyrylglycinuria Copyright http://snomed.info/sct ID:445571008 Isobutyrylglycinuria (disorder) | IBG | LA12504-9 | |
| Isovaleric acidemia Copyright http://snomed.info/sct ID:87827003 Isovaleryl-coenzyme A dehydrogenase deficiency (disorder) | IVA | LA12505-6 | |
| Primary lactic acidemia Copyright http://snomed.info/sct ID:190882007 Lactic acidemia (disorder) | LACTIC | LA12506-4 | |
| Long-chain L-3 hydroxyacyl-CoA dehydrogenase deficiency Copyright http://snomed.info/sct ID:307127004 Isolated long chain hydroxyacyl-CoA dehydrogenase deficiency (disorder) | LCHAD | LA12507-2 | |
| Malonic acidemia Copyright http://snomed.info/sct ID:124594007 Deficiency of malonyl-coenzyme A decarboxylase (disorder) | MAL | LA12508-0 | |
| Medium-chain acyl-CoA dehydrogenase deficiency Copyright http://snomed.info/sct ID:128596003 Medium-chain acyl-coenzyme A dehydrogenase deficiency (disorder) | MCAD | LA12509-8 | |
| Holoocarboxylase synthase deficiency Copyright http://snomed.info/sct ID:360369003 Holocarboxylase synthase deficiency (disorder) | MCD | LA12510-6 | |
| Medium-chain ketoacyl-CoA thiolase deficiency Copyright http://snomed.info/sct ID:124265004 Deficiency of acetyl-coenzyme A acyltransferase (disorder) | MCKAT | LA12511-4 | |
| Hypermethioninemia Copyright http://snomed.info/sct ID:43123004 Hypermethioninemia (disorder) | MET | LA12512-2 | |
| Maple syrup urine disease Copyright http://snomed.info/sct ID:27718001 Maple syrup urine disease (disorder) | MSUD | LA21168-2 | |
| Methylene tetrahydrofolate reductase deficiency Copyright http://snomed.info/sct ID:41797007 5,10-Methylenetetrahydrofolate reductase deficiency (disorder) | MTHFR | LA12514-8 | |
| Methylmalonic acidemia Copyright http://snomed.info/sct ID:124680001 Deficiency of methylmalonyl-coenzyme A mutase (disorder) | MUT | LA12515-5 | |
| Nonketotic hyperglycinemia (glycine encephalopathy) Copyright http://snomed.info/sct ID:237939006 Non-ketotic hyperglycinemia (disorder) | NKHG | LA12516-3 | |
| Hydroxyprolinemia Copyright http://snomed.info/sct ID:25739007 Hyperhydroxyprolinemia (disorder) | OH PRO | LA12517-1 | |
| Ornithine transcarbamylase deficiency Copyright http://snomed.info/sct ID:80908008 Ornithine carbamoyltransferase deficiency (disorder) | OTC | LA12518-9 | |
| Pyruvate carboxylase deficiency Copyright http://snomed.info/sct ID:87694001 Pyruvate carboxylase deficiency (disorder) | PC | LA12519-7 | |
| Classic phenylketonuria Copyright http://snomed.info/sct ID:7573000 Classical phenylketonuria (disorder) | PKU | LA12520-5 | |
| Hyperprolinemia type I Copyright http://snomed.info/sct ID:61071003 Proline dehydrogenase deficiency (disorder) | PRO I | LA12521-3 | |
| Hyperprolinemia type II Copyright http://snomed.info/sct ID:717181004 Hyperprolinemia type 2 (disorder) | PRO II | LA12522-1 | |
| Propionic acidemia Copyright http://snomed.info/sct ID:69080001 Propionic acidemia (disorder) | PROP | LA12523-9 | |
| Short-chain acyl-CoA dehydrogenase deficiency Copyright http://snomed.info/sct ID:124166007 Deficiency of butyryl-CoA dehydrogenase (disorder) | SCAD | LA12524-7 | |
| Short-chain L-3-hydroxy acyl-CoA dehydrogenase deficiency Copyright http://snomed.info/sct ID:237998000 Short chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency (disorder) | SCHAD | LA12525-4 | |
| Succinyl-CoA ligase deficiency Copyright http://snomed.info/sct ID:445275003 Deficiency of succinate-coenzyme A ligase (disorder) | SUCLA2 | LA12526-2 | |
| Trifunctional protein deficiency Copyright http://snomed.info/sct ID:237999008 Mitochondrial trifunctional protein deficiency (disorder) | TFP | LA12527-0 | |
| Tyrosinemia, type I Copyright http://snomed.info/sct ID:410056006 Tyrosinemia type I (disorder) | TYR-I | LA12528-8 | |
| Tyrosinemia, type II Copyright http://snomed.info/sct ID:4887000 Hypertyrosinemia, Richner-Hanhart type (disorder) | TYR-II | LA12529-6 | |
| Tyrosinemia, type III Copyright http://snomed.info/sct ID:415764005 Tyrosinemia type III (disorder) | TYR-III | LA12530-4 | |
| Very long-chain acyl-CoA dehydrogenase deficiency Copyright http://snomed.info/sct ID:237997005 Very long chain acyl-coenzyme A dehydrogenase deficiency (disorder) | VLCAD | LA12531-2 | |
| Biotinidase deficiency Copyright http://snomed.info/sct ID:8808004 Biotinidase deficiency (disorder) | BIO | LA12532-0 | |
| Congenital adrenal hyperplasia Copyright http://snomed.info/sct ID:237751000 Congenital adrenal hyperplasia (disorder) | CAH | LA12533-8 | |
| Cystic fibrosis Copyright http://snomed.info/sct ID:190905008 Cystic fibrosis (disorder) | CF | LA22202-8 | |
| Primary congenital hypothyroidism Copyright http://snomed.info/sct ID:190268003 Congenital hypothyroidism (disorder) | CH | LA12538-7 | |
| Secondary congenital hypothyroidism Copyright http://snomed.info/sct ID:82598004 Secondary hypothyroidism (disorder) | CH2 | LA12539-5 | |
| Glucose-6-phosphate dehydrogenase deficiency Copyright http://snomed.info/sct ID:124134002 Deficiency of glucose-6-phosphate dehydrogenase (disorder) | G6PD | LA12540-3 | |
| Galactoepimerase deficiency Copyright http://snomed.info/sct ID:8849004 Uridine diphosphate glucose-4-epimerase deficiency (disorder) | GALE | LA12541-1 | |
| Galactokinase deficiency Copyright http://snomed.info/sct ID:124302001 Deficiency of galactokinase (disorder) | GALT | LA12542-9 | |
| Classical galactosemia | GALT | LA21165-8 | |
| Hb C-carrier Copyright http://snomed.info/sct ID:76050008 Hemoglobin C trait (disorder) | LA12602-1 | ||
| Hb D-carrier Copyright http://snomed.info/sct ID:7391009 Hemoglobin D trait (disorder) | LA12603-9 | ||
| Hb E-carrier Copyright http://snomed.info/sct ID:46248003 Hemoglobin E trait (disorder) | LA12604-7 | ||
| Hb O-Arab carrier | LA12605-4 | ||
| Hb S (sickle)-carrier Copyright http://snomed.info/sct ID:16402000 Sickle cell trait (disorder) | LA12606-2 | ||
| Hb C-disease Copyright http://snomed.info/sct ID:51053007 Hemoglobin C disease (disorder) | LA12607-0 | ||
| Hb C beta-thalassemia Copyright http://snomed.info/sct ID:119691000119106 Hemoglobin C/beta thalassemia disease (disorder) | LA12608-8 | ||
| Hb D-disease | LA12609-6 | ||
| Hb D beta-thalassemia Copyright http://snomed.info/sct ID:119701000119106 Hemoglobin D/beta thalassemia disease (disorder) | LA12610-4 | ||
| Hb beta zero-thalassemia Copyright http://snomed.info/sct ID:86715000 Beta zero thalassemia (disorder) | LA12611-2 | ||
| Hb E-disease Copyright http://snomed.info/sct ID:25065001 Hemoglobin E disease (disorder) | LA12612-0 | ||
| Hb E beta-thalassemia Copyright http://snomed.info/sct ID:234392002 Hemoglobin E/beta thalassemia disease (disorder) | LA12613-8 | ||
| Hb SS-disease (sickle cell anemia) Copyright http://snomed.info/sct ID:127040003 Sickle cell-hemoglobin SS disease (disorder) | LA12614-6 | ||
| Hb S beta-thalassemia Copyright http://snomed.info/sct ID:127041004 Sickle cell-beta-thalassemia (disorder) | LA12615-3 | ||
| Hb SC-disease Copyright http://snomed.info/sct ID:35434009 Sickle cell-hemoglobin C disease (disorder) | LA12616-1 | ||
| Hb SD-disease Copyright http://snomed.info/sct ID:25472008 Sickle cell-hemoglobin D disease (disorder) | LA12617-9 | ||
| Hb SE-disease Copyright http://snomed.info/sct ID:47024008 Sickle cell-hemoglobin E disease (disorder) | LA12618-7 | ||
| Hb S O-Arab disease Copyright http://snomed.info/sct ID:127048005 Sickle cell-Hemoglobin O Arab disease (disorder) | LA12619-5 | ||
| Hb S plus Hb other than A,C,D,E,O-Arab disease Copyright http://snomed.info/sct ID:23269001 Double heterozygous sickling disorder (disorder) | LA12620-3 | ||
| Hb disease other than A, C, D, E, H,O-Arab, S Copyright http://snomed.info/sct ID:80141007 Hemoglobinopathy (disorder) | LA12621-1 | ||
| Hb carrier other than C, D, E, S ,O-Arab | LA12622-9 | ||
| Congenital HIV Copyright http://snomed.info/sct ID:52079000 Congenital human immunodeficiency virus infection (disorder) | HIV | LA12565-0 | |
| Severe combined immunodeficiency Copyright http://snomed.info/sct ID:31323000 Severe combined immunodeficiency disease (disorder) | SCID | LA12566-8 | |
| Thyroid-binding globulin deficiency Copyright http://snomed.info/sct ID:237544006 Thyroid-binding globulin deficiency (disorder) | TBG | LA12567-6 | |
| Congenital toxoplasmosis Copyright http://snomed.info/sct ID:73893000 Congenital toxoplasmosis (disorder) | TOXO | LA12568-4 | |
| Fabry disease Copyright http://snomed.info/sct ID:16652001 Fabry's disease (disorder) | GLA | LA14036-0 | |
| Pompe disease Copyright http://snomed.info/sct ID:274864009 Glycogen storage disease due to acid maltase deficiency (disorder) | GAA | LA14037-8 | |
| Krabbe disease Copyright http://snomed.info/sct ID:192782005 Galactosylceramide beta-galactosidase deficiency (disorder) | GALC | LA14038-6 | |
| Gaucher disease Copyright http://snomed.info/sct ID:190794006 Glucosylceramide beta-glucosidase deficiency (disorder) | GBA | LA14039-4 | |
| Niemann Pick disease A/B Copyright http://snomed.info/sct ID:58459009 Sphingomyelin/cholesterol lipidosis (disorder) | ASM | LA14040-2 | |
| Hb H-disease Copyright http://snomed.info/sct ID:48553001 Hemoglobin H disease (disorder) | LA16007-9 | ||
| Hemoglobinopathies Copyright http://snomed.info/sct ID:80141007 Hemoglobinopathy (disorder) | LA16207-5 | ||
| Critical congenital heart disease | CCHD | LA20349-9 | |
| X-linked adrenoleukodystrophy Copyright http://snomed.info/sct ID:65389002 Adrenoleukodystrophy (disorder) | X-ALD | LA25796-6 | |
| Mucopolysaccharidosis type I Copyright http://snomed.info/sct ID:75610003 Mucopolysaccharidosis type I (disorder) | MPS-I | LA25797-4 | |
| Guanidinoacetate N-methyltransferase deficiency Copyright http://snomed.info/sct ID:124239003 Deficiency of guanidinoacetate methyltransferase (disorder) | GAMT | LA30113-7 | |
| L-arginine:glycine amidinotransferase deficiency Copyright http://snomed.info/sct ID:702440000 Cerebral creatine deficiency syndrome 3 (disorder) | AGAT | LA30114-5 | |
| X-linked creatine transporter (CRTR) deficiency Copyright http://snomed.info/sct ID:698290008 X-linked creatine deficiency (disorder) | CRTR | LA30492-5 | |
| Spinal muscular atrophy Copyright http://snomed.info/sct ID:5262007 Spinal muscular atrophy (disorder) | SMA | LA22279-6 | |
| Mucopolysaccharidosis type II (disorder) | LA34470-7 |
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
| 57794-0 | Newborn screening test results panel - DBS |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Condiciones probadas en este estudio de cribado neonatal: |
| es-MX | Spanish (Mexico) | Condiciones examinadas en este estudio de detección de recién nacidos: |
| fr-FR | French (France) | Conditions requises pour le dépistage néonatal: |
| it-IT | Italian (Italy) | Condizioni analizzate in questo studio di screening neonatale: Synonyms: Chimica Identificatore Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | geteste aandoeningen in dit pasgeborene screeningsonderzoek: |
| pt-BR | Portuguese (Brazil) | Condições testadas no presente estudo de triagem neonatal: Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Состояния тестированные в данное новорождённый скрининг исследование: Synonyms: Идентификатор Кровь Кровь сухая капля Номинальный; |
| tr-TR | Turkish (Turkey) | Koşullar yenidoğan tarama çalışmasında test edilen: |
| zh-CN | Chinese (China) | 这项新生儿筛查检查当中的试验所针对的情况: Synonyms: Asympt SCN 全血斑点(滤纸); |
Third Party Copyright
This material includes SNOMED Clinical Terms® (SNOMED CT®) which is used by permission of the International Health Terminology Standards Development Organisation (IHTSDO) under license. All rights reserved. SNOMED CT® was originally created by The College of American Pathologists. "SNOMED" and "SNOMED CT" are registered trademarks of the IHTSDO.
This material includes content from the US Edition to SNOMED CT, which is developed and maintained by the U.S. National Library of Medicine and is available to authorized UMLS Metathesaurus Licensees from the UTS Downloads site at https://uts.nlm.nih.gov.
Use of SNOMED CT content is subject to the terms and conditions set forth in the SNOMED CT Affiliate License Agreement. It is the responsibility of those implementing this product to ensure they are appropriately licensed and for more information on the license, including how to register as an Affiliate Licensee, please refer to http://www.snomed.org/snomed-ct/get-snomed-ct or info@snomed.org<mailto:info@snomed.org>. This may incur a fee in SNOMED International non-Member countries.
69969-4 Newborn screening report overall laboratory comment
Term Description
The use of ZNB or NTE segments for report boilerplate information, such as the list of conditions tested, is not recommended because receiving organizations may not know how to process the data. This LOINC code for Newborn Screening Report Overall Laboratory Comment enables sending this data in an OBX segment. If you send a list of conditions tested or another list, we suggest you use semicolons instead of commas to separate conditions in a list to avoid problems if the condition names contain commas.
Source: Regenstrief LOINC
Observation Required in Panel
Optional
Fully-Specified Name
- Component
- Newborn screening report overall laboratory comment
- Property
- Txt
- Time
- Pt
- System
- ^Patient
- Scale
- Nar
- Method
Additional Names
- Short Name
- NBS report overall lab comment
- Display Name
- NBS report overall laboratory comment Nar
- Consumer Name Alpha Get Info
- NBS report overall laboratory comment
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.40
- Last Updated
- Version 2.73
- Order vs. Observation
- Observation
- Common Test Rank Get Info
- 13235
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
| 57794-0 | Newborn screening test results panel - DBS |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Informe de evaluación del recién nacido comentario general laboratorio: |
| es-MX | Spanish (Mexico) | Informe de cribado neonatal comentario general de laboratorio: |
| fr-FR | French (France) | Compte rendu dépistage néonatal - Commentaire: |
| it-IT | Italian (Italy) | Screening neonatale, referto di commento complessivo risultati di laboratorio: Synonyms: Chimica Commento di laboratorio paziente Punto nel tempo (episodio) Referto Testo |
| nl-NL | Dutch (Netherlands) | pasgeborene screening rapport overall laboratoriumopmerkingen: |
| ru-RU | Russian (Russian Federation) | Новорождённых скрининг отчёт полный лаборатории комментарий: Synonyms: Описательный Текст Точка во времени; |
| tr-TR | Turkish (Turkey) | Yenidoğan tarama raporu genel laboratuvar önerisi: |
| zh-CN | Chinese (China) | 新生儿筛查报告总体实验室注释: Synonyms: Asympt SCN 全面; |
57717-1 Newborn screen card data panel
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Newborn screen card data panel
- Property
- -
- Time
- Pt
- System
- Bld.dot
- Scale
- -
- Method
Additional Names
- Short Name
- NBS card data pnl
- Display Name
- NBS card data panel (DBS)
- Consumer Name Alpha Get Info
- NBS card data panel, Dried blood spot
Basic Attributes
- Class
- PANEL.CHEM
- Type
- Laboratory
- First Released
- Version 2.29
- Last Updated
- Version 2.77
- Order vs. Observation
- Order
- Panel Type
- Organizer
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
| 57794-0 | Newborn screening test results panel - DBS |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-MX | Spanish (Mexico) | Panel de datos de la tarjeta de pantalla para recién nacidos: |
| es-ES | Spanish (Spain) | Panel de cribado de tarjeta de datos del recién nacido: |
| fr-BE | French (Belgium) | Newborn screen card data panel: |
| fr-FR | French (France) | Dépistage néonatal - carte panel: |
| it-IT | Italian (Italy) | Screening neonatale, panel scheda dati: Synonyms: Chimica Panel scheda dati di screening neonatale Punto nel tempo (episodio) Sangue Set di prescrizione chimica Spot sangue secco |
| nl-NL | Dutch (Netherlands) | pasgeborene screening card data panel: |
| pt-BR | Portuguese (Brazil) | Recém-nascido quadro cartão painel de dados: Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Новорождённый скрин карта данные панель: Synonyms: Кровь Кровь сухая капля Точка во времени; |
| zh-CN | Chinese (China) | 新生儿筛查卡数据组套: Synonyms: 全血斑点(滤纸); |
57716-3 State printed on filter paper card [Identifier] in NBS card
Term Description
This is the state pre-printed on the NBS card
Source: Regenstrief LOINC
Observation Required in Panel
Required
Fully-Specified Name
- Component
- State printed on filter paper card
- Property
- ID
- Time
- Pt
- System
- NBS card
- Scale
- Nom
- Method
Additional Names
- Short Name
- State printed on card NBS card
- Display Name
- State printed on filter paper card Nom (NBS card) [ID]
- Consumer Name Alpha Get Info
- State printed on filter paper card, NBS Card
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.29
- Last Updated
- Version 2.73
- Order vs. Observation
- Observation
- Common Test Rank Get Info
- 19647
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
| 57794-0 | Newborn screening test results panel - DBS |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-MX | Spanish (Mexico) | Estado impreso en tarjeta de papel de filtro: |
| es-ES | Spanish (Spain) | Estado de origen: |
| fr-FR | French (France) | État imprimé carte filtre: |
| it-IT | Italian (Italy) | Stato di origine: Synonyms: Chimica Gene NBS Identificatore Punto nel tempo (episodio) |
| nl-NL | Dutch (Netherlands) | gesteldheid afgedrukt op filtreerpapierkaartje: |
| pt-BR | Portuguese (Brazil) | Estado de origem: Synonyms: Identifier; |
| ru-RU | Russian (Russian Federation) | Штат, напечатанный на фильтрующей бумажной карте: Synonyms: Идентификатор Номинальный; |
| tr-TR | Turkish (Turkey) | Filtre kağıdına basılmış durum: Synonyms: Yeni doğan tarama kartı |
| zh-CN | Chinese (China) | 印刷在滤纸卡片上的州名: Synonyms: 分类型应答; |
79566-6 Collection method - DBS
Term Description
The method used to collect a dried blood spot specimen, typically for newborn screening.
Source: Regenstrief LOINC
Observation Required in Panel
Optional
Fully-Specified Name
- Component
- Collection method
- Property
- Type
- Time
- Pt
- System
- Bld.dot
- Scale
- Nom
- Method
Additional Names
- Short Name
- Collection method DBS
- Display Name
- Collection method Nom (DBS)
- Consumer Name Alpha Get Info
- Collection method, Dried blood spot
Basic Attributes
- Class
- SPEC
- Type
- Laboratory
- First Released
- Version 2.54
- Last Updated
- Version 2.61
- Order vs. Observation
- Observation
Preferred Answer List LL3860-5
| Answer | Code | Score | Answer ID |
|---|---|---|---|
| Heel stick | LA25402-1 | ||
| Capillary tube | LA25403-9 | ||
| Line draw | LA25404-7 | ||
| Other | LA46-8 | ||
| Unknown Copyright http://snomed.info/sct ID:261665006 Unknown (qualifier value) | LA4489-6 |
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
| 57794-0 | Newborn screening test results panel - DBS |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Método de recolección: |
| es-MX | Spanish (Mexico) | Método de recolección: |
| et-EE | Estonian (Estonia) | Kogumise meetod: Synonyms: Juhuslik Veri |
| fr-CA | French (Canada) | Méthode de prélèvement: |
| fr-FR | French (France) | Méthode du recueil: |
| fr-BE | French (Belgium) | Méthode de prélèvement: |
| it-IT | Italian (Italy) | Raccolta, metodo: Synonyms: Caratteristiche campione Metodo di collezionamento Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | verzamelmethode: |
| ru-RU | Russian (Russian Federation) | Изъятия метод: Synonyms: Кровь Кровь сухая капля Номинальный; |
| tr-TR | Turkish (Turkey) | Toplama yöntemi: Synonyms: Tür |
| zh-CN | Chinese (China) | 采集方法: Synonyms: 全血斑点(滤纸); |
Third Party Copyright
This material includes SNOMED Clinical Terms® (SNOMED CT®) which is used by permission of the International Health Terminology Standards Development Organisation (IHTSDO) under license. All rights reserved. SNOMED CT® was originally created by The College of American Pathologists. "SNOMED" and "SNOMED CT" are registered trademarks of the IHTSDO.
This material includes content from the US Edition to SNOMED CT, which is developed and maintained by the U.S. National Library of Medicine and is available to authorized UMLS Metathesaurus Licensees from the UTS Downloads site at https://uts.nlm.nih.gov.
Use of SNOMED CT content is subject to the terms and conditions set forth in the SNOMED CT Affiliate License Agreement. It is the responsibility of those implementing this product to ensure they are appropriately licensed and for more information on the license, including how to register as an Affiliate Licensee, please refer to http://www.snomed.org/snomed-ct/get-snomed-ct or info@snomed.org<mailto:info@snomed.org>. This may incur a fee in SNOMED International non-Member countries.
8339-4 Birthweight
Observation Required in Panel
Required
Fully-Specified Name
- Component
- Body weight^at birth
- Property
- Mass
- Time
- Pt
- System
- ^Patient
- Scale
- Qn
- Method
- Measured
Additional Names
- Short Name
- Birth weight Measured
- Consumer Name Alpha Get Info
- Birth Weight
Basic Attributes
- Class
- BDYWGT.MOLEC
- Type
- Clinical
- First Released
- Version 1.0h(2)
- Last Updated
- Version 2.73
- Common Test Rank Get Info
- 6750
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 39294-4 | Children's preventive health services attachment Set |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
| 57794-0 | Newborn screening test results panel - DBS |
| 86347-2 | U.S. standard certificate of live birth - recommended 2003 revision set |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| de-DE | German (Germany) | Körpergewicht^bei Geburt: |
| es-MX | Spanish (Mexico) | Peso corporal ^ al nacer: |
| es-AR | Spanish (Argentina) | peso corporal^al nacimiento: |
| fr-FR | French (France) | Poids corporel à la naissance: |
| it-IT | Italian (Italy) | Peso corporeo^alla nascita: Synonyms: paziente Peso del corpo - molecolare Punto nel tempo (episodio) |
| nl-NL | Dutch (Netherlands) | lichaamsgewicht^bij geboorte: |
| pt-BR | Portuguese (Brazil) | Peso corpóreo^no nascimento: Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Масса тела^при рождении: Synonyms: Количественный Точка во времени; |
| zh-CN | Chinese (China) | 体重^出生时: Synonyms: 医疗服务对象; |
Example Units
| Unit | Source |
|---|---|
| [lb_av];kg;g | Example UCUM Units |
| lb | REGENSTRIEF |
58229-6 Body weight Measured --when specimen taken
Term Description
requested as option in new born screening for interpretation of NBS results which may vary with infants weight at the time of the specimen which might be different enough from birth weight to be important.
Source: Regenstrief LOINC
Observation Required in Panel
Optional
Fully-Specified Name
- Component
- Body weight^when specimen taken
- Property
- Mass
- Time
- Pt
- System
- ^Patient
- Scale
- Qn
- Method
- Measured
Additional Names
- Short Name
- Weight when spec taken Measured
- Consumer Name Alpha Get Info
- Body weight When specimen Taken, Measured
Basic Attributes
- Class
- CLIN
- Type
- Clinical
- First Released
- Version 2.30
- Last Updated
- Version 2.70
- Order vs. Observation
- Observation
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
| 57794-0 | Newborn screening test results panel - DBS |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-MX | Spanish (Mexico) | Peso corporal ^ cuando se toma la muestra: |
| it-IT | Italian (Italy) | Peso corporeo^quando è prelevato il campione: Synonyms: Clinico paziente Punto nel tempo (episodio) |
| pt-BR | Portuguese (Brazil) | Peso corporal^quando a amostra é utilizada: Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Масса тела^когда образец изъят: Synonyms: Количественный Точка во времени; |
| zh-CN | Chinese (China) | 体重^采集标本时: Synonyms: 医疗服务对象; |
Example Units
| Unit | Source |
|---|---|
| [lb_av];kg | Example UCUM Units |
57715-5 Time of birth
Observation Required in Panel
Required
Fully-Specified Name
- Component
- Birth time
- Property
- ClockTime
- Time
- Pt
- System
- ^Patient
- Scale
- Qn
- Method
Additional Names
- Short Name
- Birth time
Basic Attributes
- Class
- H&P.HX
- Type
- Clinical
- First Released
- Version 2.29
- Last Updated
- Version 2.73
- Order vs. Observation
- Observation
- Common Test Rank Get Info
- 4314
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
| 57794-0 | Newborn screening test results panel - DBS |
| 75854-0 | PCORnet common data model set - version 1.0 [PCORnet] |
| 85057-8 | PCORnet Common Data Model set - version 3.0 [PCORnet] |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-MX | Spanish (Mexico) | Hora de nacimiento: |
| it-IT | Italian (Italy) | Nascita, ora: Synonyms: Anamnesi Ora Ora di nascita paziente Punto nel tempo (episodio) |
| pt-BR | Portuguese (Brazil) | Tempo de Nascimento: Synonyms: Point in time; |
| ru-RU | Russian (Russian Federation) | Рождение время: Synonyms: Время рождения Время, измеренное при помощи хронометра (часов) Количественный Точка во времени; |
| zh-CN | Chinese (China) | 出生时间: Synonyms: 医疗服务对象; |
Example Units
| Unit | Source |
|---|---|
| {clock_time} | Example UCUM Units |
73806-2 Newborn age in hours
Term Description
Age of the newborn reported in hours.
Source: Regenstrief LOINC
Observation Required in Panel
Optional
Fully-Specified Name
- Component
- Newborn age in hours
- Property
- Time
- Time
- Pt
- System
- ^Patient
- Scale
- Qn
- Method
Additional Names
- Short Name
- Nwbrn age hours
Basic Attributes
- Class
- H&P.PX
- Type
- Clinical
- First Released
- Version 2.44
- Last Updated
- Version 2.52
- Order vs. Observation
- Observation
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
| 57794-0 | Newborn screening test results panel - DBS |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-MX | Spanish (Mexico) | Edad del recién nacido en horas: |
| it-IT | Italian (Italy) | Neonato, età in ore: Synonyms: Esame obbiettivo Età in ore del neonato paziente Punto nel tempo (episodio) Tempo (e.g. secondi) |
| ru-RU | Russian (Russian Federation) | Новорождённый возраст в часах: Synonyms: Время (в т.ч. в секундах) Количественный Точка во времени; |
| zh-CN | Chinese (China) | 按小时数计算的新生儿年龄: Synonyms: 体格检查小节与指标; |
Example Units
| Unit | Source |
|---|---|
| h | Example UCUM Units |
57722-1 Birth plurality of Pregnancy
Term Description
The number of fetuses delivered live or dead at any time in the pregnancy regardless of gestational age or if the fetuses were delivered at different dates in the pregnancy.
Source: Regenstrief LOINC
Observation Required in Panel
Required
Fully-Specified Name
- Component
- Birth plurality
- Property
- Num
- Time
- Pt
- System
- Pregnancy
- Scale
- Ord
- Method
Additional Names
- Short Name
- Birth plurality
Basic Attributes
- Class
- H&P.PX
- Type
- Clinical
- First Released
- Version 2.29
- Last Updated
- Version 2.73
- Common Test Rank Get Info
- 10871
Normative Answer List LL829-3
| Answer | Code | Score | Answer ID |
|---|---|---|---|
| 1 | 1 | LA6112-2 | |
| 2 or more | 2 | LA6113-0 | |
| 3 | 3 | LA6114-8 | |
| 4 | 4 | LA6115-5 | |
| 5 | 5 | LA10137-0 | |
| 6 | 6 | LA10138-8 | |
| 7 | 7 | LA10139-6 | |
| 8 | 8 | LA10140-4 | |
| 9 | 9 | LA10141-2 | |
| 10 | 10 | LA13942-0 | |
| 11 | 11 | LA14557-5 | |
| 12 | 12 | LA14558-3 | |
| Unknown plurality | 99 | LA12914-0 |
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
| 57794-0 | Newborn screening test results panel - DBS |
| 86347-2 | U.S. standard certificate of live birth - recommended 2003 revision set |
| 86346-4 | U.S. standard report of fetal death - recommended 2003 revision set |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-MX | Spanish (Mexico) | Pluralidad de nacimiento: |
| it-IT | Italian (Italy) | Nascita, pluralità: Synonyms: Esame obbiettivo Numero (conta) Pluralità di nascita Punto nel tempo (episodio) |
| pt-BR | Portuguese (Brazil) | Nascimentos múltiplos: Synonyms: Birth pleurality; |
| ru-RU | Russian (Russian Federation) | Рождение множественность: Synonyms: Количество Порядковый Точка во времени; |
| zh-CN | Chinese (China) | 出生胎儿数量: Synonyms: 个数; |
57714-8 Obstetric estimation of gestational age
Term Description
The obstetric estimate of the infant's gestation in completed weeks based on the birth attendant's final estimate of gestation which should be determined by all perinatal factors and assessments such as ultrasound, but not the neonatal exam.
Source: Regenstrief LOINC
Observation Required in Panel
Required
Fully-Specified Name
- Component
- Obstetric estimation of gestational age
- Property
- Time
- Time
- Pt
- System
- ^Patient
- Scale
- Qn
- Method
Additional Names
- Short Name
- OB est of GA
Basic Attributes
- Class
- H&P.HX
- Type
- Clinical
- First Released
- Version 2.29
- Last Updated
- Version 2.73
- Order vs. Observation
- Observation
- Common Test Rank Get Info
- 15375
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
| 57794-0 | Newborn screening test results panel - DBS |
Member of these Groups Get Info
| LOINC Group | Group Name |
|---|---|
| LG50113-6 | Gestational ageTime^Patient |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-MX | Spanish (Mexico) | Estimación obstétrica de la edad gestacional: |
| it-IT | Italian (Italy) | Stima ostetrica di età gestazionale: Synonyms: Anamnesi paziente Punto nel tempo (episodio) Tempo (e.g. secondi) |
| pt-BR | Portuguese (Brazil) | Estimativa obstétrica da idade gestacional: Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Акушерская оценка гестационный возраст: Synonyms: Время (в т.ч. в секундах) Гестационный срок Количественный Точка во времени; |
| zh-CN | Chinese (China) | 孕龄的产科学估计: Synonyms: 医疗服务对象; |
Example Units
| Unit | Source |
|---|---|
| wk | Example UCUM Units |
57713-0 Infant factors that affect newborn screening interpretation
Term Description
Use this term to record various infant factors (also known as events), including treatments or conditions, that occur prior to collection of the newborn screening (NBS) specimen, and can affect the interpretation of NBS results. Select any answers that apply; you can select more than one answer. If you select "other," use the additional narrative LOINC code for "Other infant factors that affect newborn screening interpretation" to give additional details. Select the answer "Infant in ICU at time of specimen collection" if the infant was in an intensive care unit, neonatal intensive care unit (NICU) or special care baby unit (SCBU). ECMO (extra corporeal membrane oxygenation, aka heart-lung bypass) can affect NBS results for hemoglobinopathies and GALT. Dopamine can affect NBS results for TSH. Steroid treatment can affect NBS results for TSH and 17-OHP. Iodine can affect NBS results for TSH and T4. Antibiotics can affect NBS results for C5. Some anti-seizure medications can affect NBS results for fatty acids. In screening for cystic fibrosis (CF), those babies presenting with meconium ileus or other bowel obstruction often have falsely low IRT's, so some states when they have that information, skip the IRT and go directly to DNA for their screen. SOURCES: Newborn Screening Guidelines for Preterm, Low Birth Weight, and Sick Newborns; Approved Guideline. CLSI document I/LA31-A. Wayne, PA: Clinical and Laboratory Standards Institute; (2009). LABORATORY MEDICINE PRACTICE GUIDELINES: FOLLOW-UP TESTING FOR METABOLIC DISEASES IDENTIFIED BY EXPANDED NEWBORN SCREENING USING TANDEM MASS SPECTROMETRY, The National Academy of Clinical Biochemistry, 2009 http://www.aacc.org/members/nacb/lmpg/onlineguide/publishedguidelines/newborn/pages/default.aspx. Utah Department of Health's "Newborn Screening For Sick or Preterm Newborns" Available at: http://health.utah.gov/newbornscreening/PDF/SupportProcScreeningSickPreterm.pdf.
Source: Regenstrief LOINC
Observation Required in Panel
Required
Fully-Specified Name
- Component
- Infant factors that affect newborn screening interpretation
- Property
- Find
- Time
- Pt
- System
- ^Patient
- Scale
- Nom
- Method
Additional Names
- Short Name
- Inf factors affecting NBS imp
Basic Attributes
- Class
- H&P.HX
- Type
- Clinical
- First Released
- Version 2.29
- Last Updated
- Version 2.73
- Change Reason
- Changed answer list from "Normative" to "Preferred" to fit the current LOINC model.; Removed "NICU" from Component based on recommendation from APHL NBS workgroup because this term could also be used for infants that are not in the NICU
- Order vs. Observation
- Observation
- Common Test Rank Get Info
- 18287
Preferred Answer List LL830-1
| Answer | Code | Score | Answer ID |
|---|---|---|---|
| None Copyright http://snomed.info/sct ID:260413007 None (qualifier value) | LA137-2 | ||
| Infant in NICU at time of specimen collection | LA12419-0 | ||
| Infant in special care setting (other than ICU) at time of specimen collection | LA25801-4 | ||
| Preterm/Low birth weight (LBW) | LA25802-2 | ||
| Any blood product transfusion (including ECLS/ECMO) | LA12417-4 | ||
| Dopamine Copyright http://snomed.info/sct ID:412383006 Dopamine (substance) | LA16923-7 | ||
| Topical iodine | LA16924-5 | ||
| Acute illness | LA25803-0 | ||
| Hypothyroxinemia of preterm birth | LA25804-8 | ||
| Significant hypoxia | LA25812-1 | ||
| Immature hypothalamic/pituitary axis | LA25805-5 | ||
| Immature liver enzymes | LA25806-3 | ||
| Immature renal system | LA25807-1 | ||
| Iodine deficiency | LA25809-7 | ||
| Liver disease | LA25810-5 | ||
| Other conditions, such as biliary atresia, intestinal perforation, abdominal wall defects, septicemia, CMV, renal failure, T21, T18, T13 | LA25811-3 | ||
| Parenteral steroid treatment | LA16925-2 | ||
| Systemic antibiotics before newborn screening | LA12420-8 | ||
| Meconium ileus or other bowel obstruction | LA16927-8 | ||
| Thoracic surgery involving thymectomy | LA25815-4 | ||
| Immunosuppressive therapy of baby or mother | LA25808-9 | ||
| Total parenteral nutrition (TPN) or similar feeding | LA25816-2 | ||
| Special lactose-free diet | LA25813-9 | ||
| Special low protein diet | LA25814-7 | ||
| Other | LA46-8 |
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
| 57794-0 | Newborn screening test results panel - DBS |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-MX | Spanish (Mexico) | Factores infantiles que afectan la interpretación del cribado neonatal: |
| it-IT | Italian (Italy) | Fattori di unità di cura infantile neonatale che influenzano interpretazione di screening neonatale: Synonyms: Anamnesi Osservazione paziente Punto nel tempo (episodio) |
| pt-BR | Portuguese (Brazil) | Os eventos clínicos que afetam a interpretação de triagem neonatal: Synonyms: Interp; |
| ru-RU | Russian (Russian Federation) | Младенец NICU факторы, которые влияют на новорождённого скрининга интерпретацию: Synonyms: Номинальный; |
| zh-CN | Chinese (China) | 影响新生儿筛查解释的婴儿因素: Synonyms: Asympt SCN 分类型应答; |
Third Party Copyright
This material includes SNOMED Clinical Terms® (SNOMED CT®) which is used by permission of the International Health Terminology Standards Development Organisation (IHTSDO) under license. All rights reserved. SNOMED CT® was originally created by The College of American Pathologists. "SNOMED" and "SNOMED CT" are registered trademarks of the IHTSDO.
This material includes content from the US Edition to SNOMED CT, which is developed and maintained by the U.S. National Library of Medicine and is available to authorized UMLS Metathesaurus Licensees from the UTS Downloads site at https://uts.nlm.nih.gov.
Use of SNOMED CT content is subject to the terms and conditions set forth in the SNOMED CT Affiliate License Agreement. It is the responsibility of those implementing this product to ensure they are appropriately licensed and for more information on the license, including how to register as an Affiliate Licensee, please refer to http://www.snomed.org/snomed-ct/get-snomed-ct or info@snomed.org<mailto:info@snomed.org>. This may incur a fee in SNOMED International non-Member countries.
67703-9 Other infant factors that affect newborn screening interpretation Narrative
Condition for Inclusion
Use this term to give additional detail if you select answer "Other" (LA46-8) for Infant NICU factors that affect newborn screening interpretation (57713-0).
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Other infant factors that affect newborn screening interpretation
- Property
- Find
- Time
- Pt
- System
- ^Patient
- Scale
- Nar
- Method
Additional Names
- Short Name
- Other Inf factors affecting NBS imp
Basic Attributes
- Class
- H&P.HX
- Type
- Clinical
- First Released
- Version 2.38
- Last Updated
- Version 2.58
- Change Reason
- Removed "NICU" from Component based on recommendation from APHL NBS workgroup because this term could also be used for infants that are not in the NICU
- Order vs. Observation
- Observation
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
| 57794-0 | Newborn screening test results panel - DBS |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-MX | Spanish (Mexico) | Otros factores infantiles que afectan la interpretación del cribado neonatal: |
| it-IT | Italian (Italy) | Altri fattori UTIN che influenzano interpretazione screening neonatale: Synonyms: Altri fattori di Unità di Terapia Intensiva Neonat Anamnesi Osservazione paziente Punto nel tempo (episodio) |
| ru-RU | Russian (Russian Federation) | Другие младенец NICU факторы, которые влияют на новорождённого скрининга интерпретацию: Synonyms: Описательный Точка во времени; |
| zh-CN | Chinese (China) | 影响新生儿筛查解释的其他婴儿因素: Synonyms: Asympt SCN 其他的 其它 其它的 判读; |
67706-2 Maternal factors that affect newborn screening interpretation
Term Description
Use this term to record various maternal factors (also known as events), including treatments applied to the newborn's mother or conditions that affect the newborn's mother, that can affect the interpretation of NBS results. Select any answers that apply; you can select more than one answer. If you select "other," use the additional narrative LOINC code for "Other maternal factors that affect newborn screening interpretation" to give additional details. Thyroid treatments (PTU - propylthiouracil, methimazole (tapazole), and radioactive iodine (I-131)) can affect NBS results for T4 and TSH. Steroid treatment (prednisone, betamethasone, dexamethasone) can affect NBS results for 17-OHP. Fatty liver of pregnancy and HELLP syndrome can affect NBS results for acylcarnitines. TPN can affect NBS results for amino acids and fatty acids. PRBC (packed red blood cell) transfusion can affect NBS results for GALT and hemoglobin. SOURCES: Newborn Screening Guidelines for Preterm, Low Birth Weight, and Sick Newborns; Approved Guideline. CLSI document I/LA31-A. Wayne, PA: Clinical and Laboratory Standards Institute; (2009). LABORATORY MEDICINE PRACTICE GUIDELINES: FOLLOW-UP TESTING FOR METABOLIC DISEASES IDENTIFIED BY EXPANDED NEWBORN SCREENING USING TANDEM MASS SPECTROMETRY, The National Academy of Clinical Biochemistry, 2009 http://www.aacc.org/members/nacb/lmpg/onlineguide/publishedguidelines/newborn/pages/default.aspx. Utah Department of Health's "Newborn Screening For Sick or Preterm Newborns" Available at: http://health.utah.gov/newbornscreening/PDF/SupportProcScreeningSickPreterm.pdf.
Source: Regenstrief LOINC
Observation Required in Panel
Optional
Fully-Specified Name
- Component
- Maternal factors that affect newborn screening interpretation
- Property
- Find
- Time
- Pt
- System
- ^Mother
- Scale
- Nom
- Method
Additional Names
- Short Name
- Mat factors affecting NBS imp
Basic Attributes
- Class
- H&P.HX
- Type
- Clinical
- First Released
- Version 2.38
- Last Updated
- Version 2.56
- Change Reason
- Changed answer list from "Normative" to "Preferred" to fit the current LOINC model.
- Order vs. Observation
- Observation
Preferred Answer List LL1736-9
| Answer | Code | Score | Answer ID |
|---|---|---|---|
| None Copyright http://snomed.info/sct ID:260413007 None (qualifier value) | LA137-2 | ||
| HELLP syndrome | LA16928-6 | ||
| Fatty liver of pregnancy | LA16929-4 | ||
| Packed red blood cell (PRBC) transfusion | LA16930-2 | ||
| Steroid treatment | LA16931-0 | ||
| Thyroid treatment (including propylthiouracil (PTU), methimazole (Tapazole), or past treatment with radioactive iodine (I-131)) | LA16932-8 | ||
| TPN | LA12418-2 | ||
| Other | LA46-8 |
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
| 57794-0 | Newborn screening test results panel - DBS |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-MX | Spanish (Mexico) | Factores maternos que afectan la interpretación del cribado neonatal: |
| it-IT | Italian (Italy) | Fattori materni che influenzano l'interpretazione di screening neonatale: Synonyms: Anamnesi Osservazione Punto nel tempo (episodio) |
| ru-RU | Russian (Russian Federation) | Мать факторы, которые влияют на новорождённый скрининг интерпретация: Synonyms: Номинальный; |
| zh-CN | Chinese (China) | 影响新生儿筛查解释的产妇因素: Synonyms: Asympt SCN 产妇; |
Third Party Copyright
This material includes SNOMED Clinical Terms® (SNOMED CT®) which is used by permission of the International Health Terminology Standards Development Organisation (IHTSDO) under license. All rights reserved. SNOMED CT® was originally created by The College of American Pathologists. "SNOMED" and "SNOMED CT" are registered trademarks of the IHTSDO.
This material includes content from the US Edition to SNOMED CT, which is developed and maintained by the U.S. National Library of Medicine and is available to authorized UMLS Metathesaurus Licensees from the UTS Downloads site at https://uts.nlm.nih.gov.
Use of SNOMED CT content is subject to the terms and conditions set forth in the SNOMED CT Affiliate License Agreement. It is the responsibility of those implementing this product to ensure they are appropriately licensed and for more information on the license, including how to register as an Affiliate Licensee, please refer to http://www.snomed.org/snomed-ct/get-snomed-ct or info@snomed.org<mailto:info@snomed.org>. This may incur a fee in SNOMED International non-Member countries.
67707-0 Other maternal factors that affect newborn screening interpretation Narrative
Condition for Inclusion
Use this term to give additional detail if you select answer "Other" (LA46-8) for Maternal factors that affect newborn screening interpretation (67706-2).
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Other maternal factors that affect newborn screening interpretation
- Property
- Find
- Time
- Pt
- System
- ^Mother
- Scale
- Nar
- Method
Additional Names
- Short Name
- Other mat factors affecting NBS imp
Basic Attributes
- Class
- H&P.HX
- Type
- Clinical
- First Released
- Version 2.38
- Last Updated
- Version 2.48
- Order vs. Observation
- Observation
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
| 57794-0 | Newborn screening test results panel - DBS |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-MX | Spanish (Mexico) | Otros factores maternos que afectan la interpretación del cribado neonatal: |
| it-IT | Italian (Italy) | Altri fattori materni che influenzano interpretazione screening neonatale: Synonyms: Altri fattori materni che influenzano l''interpret Anamnesi Osservazione Punto nel tempo (episodio) |
| ru-RU | Russian (Russian Federation) | Другие мать факторы, которые влияют на новорождённый скрининг интерпретация: Synonyms: Описательный Точка во времени; |
| zh-CN | Chinese (China) | 影响新生儿筛查解释的其他产妇因素: Synonyms: Asympt SCN 产妇; |
77739-1 Mother's Hepatitis B virus surface Ag status
Term Description
This term should be used to report the birth mother's Hepatitis B surface antigen status.
Source: Regenstrief LOINC
Part Descriptions
LP14820-2 Hepatitis B virus surface
The hepatitis B surface antigen (HBsAg) is most frequently used to screen for the presence of this infection. It is the first detectable viral antigen to appear during infection. However, early in an infection, this antigen may not be present and it may be undetectable later in the infection as it is being cleared by the host. The infectious virion contains an inner "core particle" enclosing viral genome. The icosahedral core particle is made of 180 or 240 copies of core protein, alternatively known as hepatitis B core antigen, or HBcAg. During this 'window' in which the host remains infected but is successfully clearing the virus, IgM antibodies to the hepatitis B core antigen (anti-HBc IgM) may be the only serological evidence of disease. Therefore most hepatitis B diagnostic panels contain HBsAg and total anti-HBc(both IgM and IgG).
Copyright Text is available under the Creative Commons Attribution/Share-Alike License. See http://creativecommons.org/licenses/by-sa/3.0/ for details.
Source: Wikipedia, Hepatitis B Virus
Condition for Inclusion
This term should be used in the context of the card data panel if maternal Hep B surface Ag result is included on the DBS card
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Hepatitis B virus surface Ag
- Property
- PrThr
- Time
- Pt
- System
- ^Mother
- Scale
- Ord
- Method
Additional Names
- Short Name
- Mother's HBV surface Ag Ql
- Display Name
- HBV surface Ag Ql (Mother)
- Consumer Name Alpha Get Info
- Hepatitis B virus (HBV) Surface antigen, Mother
Basic Attributes
- Class
- MICRO
- Type
- Laboratory
- First Released
- Version 2.52
- Last Updated
- Version 2.56
- Change Reason
- The PrThr property is used for LOINC terms whose results are reported using an ordered categorical scale, regardless of whether or not an internal threshold was used to make that determination. This change was approved by the Laboratory LOINC Committee in June 2016.
- Order vs. Observation
- Both
Preferred Answer List LL3639-3
| Answer | Code | Score | Answer ID |
|---|---|---|---|
| Positive Copyright http://snomed.info/sct ID:10828004 Positive (qualifier value) | LA6576-8 | ||
| Negative Copyright http://snomed.info/sct ID:260385009 Negative (qualifier value) | LA6577-6 | ||
| Not tested | LA13538-6 | ||
| Unknown Copyright http://snomed.info/sct ID:261665006 Unknown (qualifier value) | LA4489-6 |
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
| 57794-0 | Newborn screening test results panel - DBS |
Member of these Groups Get Info
| LOINC Group | Group Name |
|---|---|
| LG32752-4 | Hepatitis B virus |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| de-DE | German (Germany) | Hepatitis-B-Virus-surface Ag: Synonyms: Hepatitis-B-Virus-surface; |
| es-ES | Spanish (Spain) | Antígeno de superficie virus Hepatitis B Antígeno: |
| es-MX | Spanish (Mexico) | Ag de superficie del virus de la hepatitis B: |
| fr-FR | French (France) | Hépatite B virus surface Ag: |
| it-IT | Italian (Italy) | Epatite B virus, superficie, Ag: Synonyms: HBV Microbiologia Presenza o Soglia Punto nel tempo (episodio) Superficie del virus dell''epatite B |
| nl-NL | Dutch (Netherlands) | Hepatitis B-virusoppervlakte Ag: Synonyms: antigeen |
| pl-PL | Polish (Poland) | Powierzchnia wirusa zapalenia wątroby typu B Ag: Synonyms: Antygen powierzchniowy wirusa zapalenia wątroby typu B |
| ru-RU | Russian (Russian Federation) | Гепатита В вируса поверхностный Аг: Synonyms: Порядковый Точка во времени; |
| tr-TR | Turkish (Turkey) | Hepatit B virüsü yüzey Ag: Synonyms: Antijen Mevcut |
| zh-CN | Chinese (China) | 乙型肝炎病毒表面 抗原: Synonyms: Ag B 型 HBs Ag HBs 抗原 HBs; |
Third Party Copyright
This material includes SNOMED Clinical Terms® (SNOMED CT®) which is used by permission of the International Health Terminology Standards Development Organisation (IHTSDO) under license. All rights reserved. SNOMED CT® was originally created by The College of American Pathologists. "SNOMED" and "SNOMED CT" are registered trademarks of the IHTSDO.
This material includes content from the US Edition to SNOMED CT, which is developed and maintained by the U.S. National Library of Medicine and is available to authorized UMLS Metathesaurus Licensees from the UTS Downloads site at https://uts.nlm.nih.gov.
Use of SNOMED CT content is subject to the terms and conditions set forth in the SNOMED CT Affiliate License Agreement. It is the responsibility of those implementing this product to ensure they are appropriately licensed and for more information on the license, including how to register as an Affiliate Licensee, please refer to http://www.snomed.org/snomed-ct/get-snomed-ct or info@snomed.org<mailto:info@snomed.org>. This may incur a fee in SNOMED International non-Member countries.
57712-2 Highest level of education Mother
Term Description
Record the highest degree or level of school completed at the time of delivery.
Source: Regenstrief LOINC
Part Descriptions
LP72877-1 Highest level of education
The highest level of education attained.
Source: Centers for Disease Control and Prevention
Observation Required in Panel
Optional
Fully-Specified Name
- Component
- Highest level of education
- Property
- Hx
- Time
- Pt
- System
- ^Mother
- Scale
- Ord
- Method
Additional Names
- Short Name
- Highest level of education Mother
Basic Attributes
- Class
- H&P.HX
- Type
- Clinical
- First Released
- Version 2.29
- Last Updated
- Version 2.63
- Change Reason
- Changed Component from Mother's education to Highest level of education to match the pattern other level of education terms, such as 80913-7
- Order vs. Observation
- Observation
Normative Answer List LL836-8
| Answer | Code | Score | Answer ID |
|---|---|---|---|
| 8th grade/less | LA36-9 | ||
| 9th - 12th grade, no diploma | LA12456-2 | ||
| High school graduate or GED completed | LA12457-0 | ||
| Some college credit but no degree | LA12458-8 | ||
| Associate degree (e.g., AA, AS) | LA12459-6 | ||
| Bachelor's degree (e.g., BA, AB, BS) | LA12460-4 | ||
| Master's degree (e.g., MA, MS, MEng, MEd, MSW, MBA) | LA12461-2 | ||
| Doctorate (e.g., PhD, EdD) or Professional degree (e.g., MD, DDS, DVM, LLB, JD) | LA12462-0 | ||
| Unknown Copyright http://snomed.info/sct ID:261665006 Unknown (qualifier value) | LA4489-6 |
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
| 57794-0 | Newborn screening test results panel - DBS |
| 63009-5 | PhenX domain - Social environments |
Member of these Groups Get Info
| LOINC Group | Group Name |
|---|---|
| LG51306-5 | SDOH |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-MX | Spanish (Mexico) | El mas alto nivel de educación: |
| it-IT | Italian (Italy) | Livello più elevato di istruzione: Synonyms: Anamnesi Punto nel tempo (episodio) Storia; |
| pt-BR | Portuguese (Brazil) | Educação da mãe: Synonyms: History; |
| ru-RU | Russian (Russian Federation) | Уровень образования: Synonyms: История Порядковый Точка во времени; |
| zh-CN | Chinese (China) | 文化程度: Synonyms: 产妇; |
Third Party Copyright
This material includes SNOMED Clinical Terms® (SNOMED CT®) which is used by permission of the International Health Terminology Standards Development Organisation (IHTSDO) under license. All rights reserved. SNOMED CT® was originally created by The College of American Pathologists. "SNOMED" and "SNOMED CT" are registered trademarks of the IHTSDO.
This material includes content from the US Edition to SNOMED CT, which is developed and maintained by the U.S. National Library of Medicine and is available to authorized UMLS Metathesaurus Licensees from the UTS Downloads site at https://uts.nlm.nih.gov.
Use of SNOMED CT content is subject to the terms and conditions set forth in the SNOMED CT Affiliate License Agreement. It is the responsibility of those implementing this product to ensure they are appropriately licensed and for more information on the license, including how to register as an Affiliate Licensee, please refer to http://www.snomed.org/snomed-ct/get-snomed-ct or info@snomed.org<mailto:info@snomed.org>. This may incur a fee in SNOMED International non-Member countries.
67704-7 Feeding types
Term Description
Use this term to record the feeding types the infant consumed prior to collection of the newborn screening specimen. Select any answers that apply; you can select more than one answer. If you select "other," use the additional narrative LOINC code for "Other feeding types" to give additional details. Total Parenteral Nutrition (TPN) can affect NBS results for amino acids, and possibly for acylcarnitines if TPN includes carnitine. Carnitine can affect NBS results for acylcarnitines. MCT oil can affect NBS results for fatty acids. IV dextrose can affect NBS results for C16-OH carnitine. SOURCES: Newborn Screening Guidelines for Preterm, Low Birth Weight, and Sick Newborns; Approved Guideline. CLSI document I/LA31-A. Wayne, PA: Clinical and Laboratory Standards Institute; (2009). Martinez JA, Ballew MP. Infant Formulas. Pediatr Rev 2011 May;32(5):179-89.
Source: Regenstrief LOINC
Observation Required in Panel
Required
Fully-Specified Name
- Component
- Feeding types
- Property
- Find
- Time
- Pt
- System
- ^Patient
- Scale
- Nom
- Method
Additional Names
- Short Name
- Feeding types
Basic Attributes
- Class
- H&P.HX
- Type
- Clinical
- First Released
- Version 2.38
- Last Updated
- Version 2.73
- Order vs. Observation
- Observation
- Common Test Rank Get Info
- 18491
Normative Answer List LL1735-1
| Answer | Code | Score | Answer ID |
|---|---|---|---|
| Breast milk | LA16914-6 | ||
| Lactose formula | LA16915-3 | ||
| Lactose free formula (including soy or hydrolyzed) | LA14041-0 | ||
| NPO | LA16917-9 | ||
| TPN | LA12418-2 | ||
| Carnitine Copyright http://snomed.info/sct ID:59888006 Carnitine (substance) | LA16918-7 | ||
| MCT (medium-chain triglyceride) oil | LA16919-5 | ||
| IV dextrose | LA16920-3 | ||
| Other | LA46-8 | ||
| None Copyright http://snomed.info/sct ID:260413007 None (qualifier value) | LA137-2 | ||
| Unknown Copyright http://snomed.info/sct ID:261665006 Unknown (qualifier value) | LA4489-6 |
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
| 57794-0 | Newborn screening test results panel - DBS |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-MX | Spanish (Mexico) | Tipos de alimentación: |
| fr-FR | French (France) | Types de repas: |
| it-IT | Italian (Italy) | Alimentazione, tipi: Synonyms: Anamnesi Osservazione paziente Punto nel tempo (episodio) Tipi di alimentazione |
| ru-RU | Russian (Russian Federation) | Кормления типы: Synonyms: Номинальный; |
| zh-CN | Chinese (China) | 喂养类型: Synonyms: 分类型应答; |
Third Party Copyright
This material includes SNOMED Clinical Terms® (SNOMED CT®) which is used by permission of the International Health Terminology Standards Development Organisation (IHTSDO) under license. All rights reserved. SNOMED CT® was originally created by The College of American Pathologists. "SNOMED" and "SNOMED CT" are registered trademarks of the IHTSDO.
This material includes content from the US Edition to SNOMED CT, which is developed and maintained by the U.S. National Library of Medicine and is available to authorized UMLS Metathesaurus Licensees from the UTS Downloads site at https://uts.nlm.nih.gov.
Use of SNOMED CT content is subject to the terms and conditions set forth in the SNOMED CT Affiliate License Agreement. It is the responsibility of those implementing this product to ensure they are appropriately licensed and for more information on the license, including how to register as an Affiliate Licensee, please refer to http://www.snomed.org/snomed-ct/get-snomed-ct or info@snomed.org<mailto:info@snomed.org>. This may incur a fee in SNOMED International non-Member countries.
67705-4 Other feeding types Narrative
Condition for Inclusion
Use this term to give additional detail if you select answer "Other" (LA46-8) for Feeding Types (67704-7).
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Other feeding types
- Property
- Find
- Time
- Pt
- System
- ^Patient
- Scale
- Nar
- Method
Additional Names
- Short Name
- Other feeding types
Basic Attributes
- Class
- H&P.HX
- Type
- Clinical
- First Released
- Version 2.38
- Last Updated
- Version 2.40
- Order vs. Observation
- Observation
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
| 57794-0 | Newborn screening test results panel - DBS |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-MX | Spanish (Mexico) | Otros tipos de alimentación: |
| it-IT | Italian (Italy) | Altri tipi di alimentazione: Synonyms: Anamnesi Osservazione paziente Punto nel tempo (episodio) Tipi di alimentazione |
| ru-RU | Russian (Russian Federation) | Другие кормления типы: Synonyms: Описательный Точка во времени; |
| zh-CN | Chinese (China) | 其他喂养类型: Synonyms: 其他喂养（喂食、 |
79569-0 Blood product given [Type]
Term Description
Use this term to record the blood transfusion types the infant received prior to collection of the newborn screening specimen. Select any answers that apply; you can select more than one answer.
Source: Regenstrief LOINC
Condition for Inclusion
If an infant was given a blood product, the type should be reported.
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Blood product given
- Property
- Type
- Time
- Pt
- System
- ^Patient
- Scale
- Nom
- Method
Additional Names
- Short Name
- Blood product Gvn Type
Basic Attributes
- Class
- H&P.HX
- Type
- Clinical
- First Released
- Version 2.54
- Last Updated
- Version 2.54
- Order vs. Observation
- Both
Preferred Answer List LL3859-7
| Answer | Code | Score | Answer ID |
|---|---|---|---|
| Blood product transfusion that includes Red Blood Cells (RBC) | LA25396-5 | ||
| Blood product transfusion that does NOT include Red Blood Cells (RBC) | LA25397-3 | ||
| Extracorporeal life support (ECLS)/Extracorporeal membrane oxygenation (ECMO) | LA25398-1 | ||
| Intrauterine Fetal Blood Transfusion that includes Red Blood Cells (RBC) | LA25399-9 | ||
| Intrauterine Fetal Blood Transfusion that does not includes Red Blood Cells (RBC) | LA25400-5 | ||
| Other blood product transfusion | LA25401-3 |
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
| 57794-0 | Newborn screening test results panel - DBS |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Producto de sangre dado: |
| es-MX | Spanish (Mexico) | Hemoderivado administrado: |
| it-IT | Italian (Italy) | Prodotto Sangue, somministrato: Synonyms: Anamnesi paziente Punto nel tempo (episodio) |
| zh-CN | Chinese (China) | 血液制品 给予的: Synonyms: 分类型应答; |
62317-3 Date of last blood product transfusion
Observation Required in Panel
Optional
Fully-Specified Name
- Component
- Date of last blood product transfusion
- Property
- TmStp
- Time
- Pt
- System
- ^Patient
- Scale
- Qn
- Method
Additional Names
- Short Name
- Date last blood product transfusion
Basic Attributes
- Class
- H&P.HX
- Type
- Clinical
- First Released
- Version 2.34
- Last Updated
- Version 2.36
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
| 57794-0 | Newborn screening test results panel - DBS |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-MX | Spanish (Mexico) | Fecha de la última transfusión de hemoderivados: |
| it-IT | Italian (Italy) | Data di ultima trasfusione prodotto sangue: Synonyms: Anamnesi paziente Punto nel tempo (episodio) Time stamp (Data e Ora) |
| ru-RU | Russian (Russian Federation) | Дата последнее переливание продукт крови: Synonyms: Time Stamp (Дата и Время) Количественный Точка во времени; |
| zh-CN | Chinese (China) | 末次血液制品输注日期: Synonyms: 医疗服务对象; |
58232-0 Hearing loss risk indicators [Identifier]
Term Description
This question should be answered as part of the order and/or result of new born screen for hearing loss. It is intended to capture the risk factors identified by the Joint committee on Infant Hearing (JCIH) in appendix 2 of their recommendations (Pediatrics 2007;120;898-921). The user should always provide an answer (none if no risk factors exist) and otherwise pick as many answers as apply. The observations must be included IF the hearing screening result is delivered as part of this report.
Source: Regenstrief LOINC
Condition for Inclusion
This term should be used in the context of the card data panel if newborn hearing screen information is included on the DBS card.
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Hearing loss risk indicators
- Property
- Prid
- Time
- Pt
- System
- ^Patient
- Scale
- Nom
- Method
Additional Names
- Short Name
- Hearing loss risk indicators
Basic Attributes
- Class
- H&P.HX
- Type
- Clinical
- First Released
- Version 2.30
- Last Updated
- Version 2.56
- Change Reason
- Changed answer list from "Normative" to "Preferred" to fit the current LOINC model.
Preferred Answer List LL862-4
| Answer | Code | Score | Answer ID |
|---|---|---|---|
| Family Hx of hearing loss | LA12668-2 | ||
| ICU stay > 5 days | LA12669-0 | ||
| Hyperbilirubinemia with exchange transfusion | LA12673-2 | ||
| Aminoglycoside administration for more than 5 days | LA12672-4 | ||
| Asphyxia or Hypoxic Ischemic Encephalopathy | LA31563-2 | ||
| ECMO | LA12670-8 | ||
| In utero infection(s) such as herpes, rubella, syphilis, and toxoplasmosis | LA12674-0 | ||
| In utero infection with cytomegalovirus (CMV) | LA31564-0 | ||
| Mother + Zika and infant with no laboratory evidence and no clinical findings | LA31565-7 | ||
| Mother + Zika and infant with laboratory evidence of Zika | LA31566-5 | ||
| Craniofacial malformations: Other (e.g., ear dysplasia, oral facial clefting, white forelock, microphthalmia) | LA31852-9 | ||
| Craniofacial malformations: microtia/atresia | LA31853-7 | ||
| Congenital microcephaly, congenital or acquired hydrocephalus | LA31567-3 | ||
| Temporal bone abnormalities | LA31568-1 | ||
| Syndromes associated with atypical hearing thresholds | LA12676-5 | ||
| Culture-positive infections associated with sensorineural hearing loss | LA12678-1 | ||
| Significant head trauma | LA12679-9 | ||
| Chemotherapy | LA6172-6 | ||
| Caregiver concern about hearing | LA12667-4 | ||
| None Copyright http://snomed.info/sct ID:260413007 None (qualifier value) | LA137-2 |
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54111-0 | Newborn hearing screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
| 57794-0 | Newborn screening test results panel - DBS |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| de-DE | German (Germany) | Hörverlust Risikoindikatoren: |
| es-MX | Spanish (Mexico) | Indicadores de riesgo de pérdida auditiva: |
| it-IT | Italian (Italy) | Perdita uditiva, indicatori di rischio: Synonyms: Anamnesi Indicatori di rischio di perdita uditiva paziente Presenza o Identità Punto nel tempo (episodio) |
| pt-BR | Portuguese (Brazil) | Indicadores de risco para perda auditiva: Synonyms: Identity or presence; |
| ru-RU | Russian (Russian Federation) | Слух потеря риск индикаторы: Synonyms: Номинальный; |
| zh-CN | Chinese (China) | 听力损失风险指标: Synonyms: 分类型应答; |
Third Party Copyright
This material includes SNOMED Clinical Terms® (SNOMED CT®) which is used by permission of the International Health Terminology Standards Development Organisation (IHTSDO) under license. All rights reserved. SNOMED CT® was originally created by The College of American Pathologists. "SNOMED" and "SNOMED CT" are registered trademarks of the IHTSDO.
This material includes content from the US Edition to SNOMED CT, which is developed and maintained by the U.S. National Library of Medicine and is available to authorized UMLS Metathesaurus Licensees from the UTS Downloads site at https://uts.nlm.nih.gov.
Use of SNOMED CT content is subject to the terms and conditions set forth in the SNOMED CT Affiliate License Agreement. It is the responsibility of those implementing this product to ensure they are appropriately licensed and for more information on the license, including how to register as an Affiliate Licensee, please refer to http://www.snomed.org/snomed-ct/get-snomed-ct or info@snomed.org<mailto:info@snomed.org>. This may incur a fee in SNOMED International non-Member countries.
54106-0 Newborn hearing screen method
Condition for Inclusion
This term should be used in the context of the card data panel if newborn hearing screen information is included on the DBS card
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Newborn hearing screen method
- Property
- Type
- Time
- Pt
- System
- Ear
- Scale
- Nom
- Method
Additional Names
- Short Name
- NB hearing scn meth
Basic Attributes
- Class
- H&P.HX
- Type
- Clinical
- First Released
- Version 2.26
- Last Updated
- Version 2.73
- Change Reason
- Changed answer list from "Normative" to "Preferred" to fit the current LOINC model.
- Order vs. Observation
- Observation
Preferred Answer List LL617-2
| Answer | Code | Score | Answer ID |
|---|---|---|---|
| Automated auditory brainstem response | AABR | LA10387-1 | |
| Auditory brain stem response | ABR | LA10388-9 | |
| Otoacoustic emissions | OAE | LA10389-7 | |
| Distortion product otoacoustic emissions | DPOAE | LA10390-5 | |
| Transient otoacoustic emissions | TOAE | LA10391-3 | |
| Methodology unknown | LA12406-7 |
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54111-0 | Newborn hearing screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
| 57794-0 | Newborn screening test results panel - DBS |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| de-DE | German (Germany) | Hören bei Neugeborenen Screening: |
| es-MX | Spanish (Mexico) | Método de evaluación auditiva para recién nacidos: |
| it-IT | Italian (Italy) | Neonato, udito, screening, metodo: Synonyms: , metodo di screening Anamnesi Punto nel tempo (episodio) Screening uditivo del neonato Udito del neonato |
| pt-BR | Portuguese (Brazil) | Recém-nascido método de triagem da audição: Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Новорождённого слух скрин метод: Synonyms: Номинальный; |
| zh-CN | Chinese (China) | 新生儿听力 筛查方法: Synonyms: 分类型应答; |
54108-6 Newborn hearing screen of Ear - left
Condition for Inclusion
This term should be used in the context of the card data panel if newborn hearing screen information is included on the DBS card
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Newborn hearing screen
- Property
- Arb
- Time
- Pt
- System
- Ear.left
- Scale
- Ord
- Method
Additional Names
- Short Name
- NB hearing scn Ear-L
Basic Attributes
- Class
- H&P.HX
- Type
- Clinical
- First Released
- Version 2.26
- Last Updated
- Version 2.73
- Change Reason
- Changed answer list from "Normative" to "Preferred" to fit the current LOINC model.
- Order vs. Observation
- Both
Preferred Answer List LL618-0
| Answer | Code | Score | Answer ID |
|---|---|---|---|
| Pass | LA10392-1 | ||
| Refer Copyright http://snomed.info/sct ID:183924009 Referral needed (finding) | LA10393-9 | ||
| Parental refusal Copyright http://snomed.info/sct ID:609589008 Refused by parents of subject (qualifier value) | LA6644-4 | ||
| Attempted, but unsuccessful - technical fail Copyright http://snomed.info/sct ID:103709008 Failed attempted procedure (situation) | LA12408-3 | ||
| Not performed Copyright http://snomed.info/sct ID:262008008 Not performed (qualifier value) | LA7304-4 | ||
| Not performed, medical exclusion - not indicated Copyright http://snomed.info/sct ID:410534003 Not indicated (qualifier value) | LA12409-1 |
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54111-0 | Newborn hearing screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
| 57794-0 | Newborn screening test results panel - DBS |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-MX | Spanish (Mexico) | Pantalla de audición para recién nacidos: |
| it-IT | Italian (Italy) | Neonato, screening udito: Synonyms: Anamnesi Arbitrario Orecchio Sinistro Punto nel tempo (episodio) Screening uditivo del neonato Udito del neonato |
| pt-BR | Portuguese (Brazil) | Recém-nascido triagem de audição: Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Новорождённый слух скрин: Synonyms: Порядковый Произвольный Точка во времени; |
| zh-CN | Chinese (China) | 新生儿听力筛查: Synonyms: L LT 任意; |
Third Party Copyright
This material includes SNOMED Clinical Terms® (SNOMED CT®) which is used by permission of the International Health Terminology Standards Development Organisation (IHTSDO) under license. All rights reserved. SNOMED CT® was originally created by The College of American Pathologists. "SNOMED" and "SNOMED CT" are registered trademarks of the IHTSDO.
This material includes content from the US Edition to SNOMED CT, which is developed and maintained by the U.S. National Library of Medicine and is available to authorized UMLS Metathesaurus Licensees from the UTS Downloads site at https://uts.nlm.nih.gov.
Use of SNOMED CT content is subject to the terms and conditions set forth in the SNOMED CT Affiliate License Agreement. It is the responsibility of those implementing this product to ensure they are appropriately licensed and for more information on the license, including how to register as an Affiliate Licensee, please refer to http://www.snomed.org/snomed-ct/get-snomed-ct or info@snomed.org<mailto:info@snomed.org>. This may incur a fee in SNOMED International non-Member countries.
54109-4 Newborn hearing screen of Ear - right
Condition for Inclusion
This term should be used in the context of the card data panel if newborn hearing screen information is included on the DBS card
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Newborn hearing screen
- Property
- Arb
- Time
- Pt
- System
- Ear.right
- Scale
- Ord
- Method
Additional Names
- Short Name
- NB hearing scn Ear-R
Basic Attributes
- Class
- H&P.HX
- Type
- Clinical
- First Released
- Version 2.26
- Last Updated
- Version 2.73
- Change Reason
- Changed answer list from "Normative" to "Preferred" to fit the current LOINC model.
- Order vs. Observation
- Both
Preferred Answer List LL618-0
| Answer | Code | Score | Answer ID |
|---|---|---|---|
| Pass | LA10392-1 | ||
| Refer Copyright http://snomed.info/sct ID:183924009 Referral needed (finding) | LA10393-9 | ||
| Parental refusal Copyright http://snomed.info/sct ID:609589008 Refused by parents of subject (qualifier value) | LA6644-4 | ||
| Attempted, but unsuccessful - technical fail Copyright http://snomed.info/sct ID:103709008 Failed attempted procedure (situation) | LA12408-3 | ||
| Not performed Copyright http://snomed.info/sct ID:262008008 Not performed (qualifier value) | LA7304-4 | ||
| Not performed, medical exclusion - not indicated Copyright http://snomed.info/sct ID:410534003 Not indicated (qualifier value) | LA12409-1 |
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54111-0 | Newborn hearing screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
| 57794-0 | Newborn screening test results panel - DBS |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-MX | Spanish (Mexico) | Pantalla de audición para recién nacidos: |
| it-IT | Italian (Italy) | Neonato, screening udito: Synonyms: Anamnesi Arbitrario Orecchio Destro Punto nel tempo (episodio) Screening uditivo del neonato Udito del neonato |
| pt-BR | Portuguese (Brazil) | Recém-nascido triagem de audição: Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Новорождённый слух скрин: Synonyms: Порядковый Произвольный Точка во времени; |
| zh-CN | Chinese (China) | 新生儿听力筛查: Synonyms: R RT 任意; |
Third Party Copyright
This material includes SNOMED Clinical Terms® (SNOMED CT®) which is used by permission of the International Health Terminology Standards Development Organisation (IHTSDO) under license. All rights reserved. SNOMED CT® was originally created by The College of American Pathologists. "SNOMED" and "SNOMED CT" are registered trademarks of the IHTSDO.
This material includes content from the US Edition to SNOMED CT, which is developed and maintained by the U.S. National Library of Medicine and is available to authorized UMLS Metathesaurus Licensees from the UTS Downloads site at https://uts.nlm.nih.gov.
Use of SNOMED CT content is subject to the terms and conditions set forth in the SNOMED CT Affiliate License Agreement. It is the responsibility of those implementing this product to ensure they are appropriately licensed and for more information on the license, including how to register as an Affiliate Licensee, please refer to http://www.snomed.org/snomed-ct/get-snomed-ct or info@snomed.org<mailto:info@snomed.org>. This may incur a fee in SNOMED International non-Member countries.
73700-7 CCHD newborn screening interpretation
Term Description
The critical congenital heart defects (CCHD) newborn screening interpretation is the end result of the screening event and is based on the preductal and postductal oxygen saturation measurements as well as the difference between the preductal and postductal measurement. The interpretation will also depend on the particular protocol used for screening.
Source: Regenstrief LOINC
Condition for Inclusion
This term should be used in the context of the card data panel if newborn CCHD screening information is included on the DBS card
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- CCHD newborn screening interpretation
- Property
- Imp
- Time
- Pt
- System
- ^Patient
- Scale
- Nom
- Method
Additional Names
- Short Name
- CCHD NBS interp
Basic Attributes
- Class
- H&P.PX
- Type
- Clinical
- First Released
- Version 2.44
- Last Updated
- Version 2.73
- Change Reason
- Changed answer list from "Normative" to "Preferred" to fit the current LOINC model.
- Order vs. Observation
- Observation
Preferred Answer List LL2453-0
| Answer | Code | Score | Answer ID |
|---|---|---|---|
| In range | LA18592-8 | ||
| Out of range | LA18593-6 | ||
| Inconclusive, repeat screen needed | LA19816-0 | ||
| Attempted but unsuccessful - technical fail | LA19817-8 | ||
| Not performed Copyright http://snomed.info/sct ID:262008008 Not performed (qualifier value) | LA7304-4 |
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
| 57794-0 | Newborn screening test results panel - DBS |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-MX | Spanish (Mexico) | Interpretación del cribado neonatal de CCHD: |
| it-IT | Italian (Italy) | CCHD neonato, screening, interpretazione: Synonyms: Esame obbiettivo Impressione/interpretazione di studio Interpretazione dello screening neonato CCHD paziente Punto nel tempo (episodio) |
| ru-RU | Russian (Russian Federation) | CCHD новорождённого скрининг интерпретация: Synonyms: Впечатление/интерпретация исследования Номинальный; |
| zh-CN | Chinese (China) | CCHD 新生儿筛查解释: Synonyms: Asympt CCHD 新生儿（NB）筛查（筛选、 |
Third Party Copyright
This material includes SNOMED Clinical Terms® (SNOMED CT®) which is used by permission of the International Health Terminology Standards Development Organisation (IHTSDO) under license. All rights reserved. SNOMED CT® was originally created by The College of American Pathologists. "SNOMED" and "SNOMED CT" are registered trademarks of the IHTSDO.
This material includes content from the US Edition to SNOMED CT, which is developed and maintained by the U.S. National Library of Medicine and is available to authorized UMLS Metathesaurus Licensees from the UTS Downloads site at https://uts.nlm.nih.gov.
Use of SNOMED CT content is subject to the terms and conditions set forth in the SNOMED CT Affiliate License Agreement. It is the responsibility of those implementing this product to ensure they are appropriately licensed and for more information on the license, including how to register as an Affiliate Licensee, please refer to http://www.snomed.org/snomed-ct/get-snomed-ct or info@snomed.org<mailto:info@snomed.org>. This may incur a fee in SNOMED International non-Member countries.
73698-3 Reason CCHD oxygen saturation screening not performed
Term Description
Virtually every infant born in the hospital in the United States should have critical congenital heart defects (CCHD) oxygen saturation screening. However, there are some cases in which screening was not appropriate or was not done for other reasons. This term is meant to capture the reason that screening was not performed in those rare instances that an infant did not get screened.
Source: Regenstrief LOINC
Condition for Inclusion
This term should be used in the context of the card data panel if newborn CCHD screening information is included on the DBS card
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Reason CCHD oxygen saturation screening not performed
- Property
- Find
- Time
- Pt
- System
- ^Patient
- Scale
- Nom
- Method
Additional Names
- Short Name
- CCHD SaO2 scrn not prfrmd
Basic Attributes
- Class
- H&P.PX
- Type
- Clinical
- First Released
- Version 2.44
- Last Updated
- Version 2.56
- Change Reason
- Changed answer list from "Normative" to "Preferred" to fit the current LOINC model.
- Order vs. Observation
- Observation
Preferred Answer List LL2458-9
| Answer | Code | Score | Answer ID |
|---|---|---|---|
| Prior prenatal diagnosis of CCHD | LA19819-4 | ||
| Prior postnatal diagnosis of CCHD | LA19820-2 | ||
| Early discharge | LA19821-0 | ||
| Transfer prior to screening | LA19822-8 | ||
| Infant in NICU | LA19823-6 | ||
| Medically unstable and inappropriate for screen | LA19824-4 | ||
| Receiving supplemental oxygen | LA19825-1 | ||
| Infant deceased | LA19826-9 | ||
| Parental refusal based on religious beliefs | LA19827-7 | ||
| Parental refusal for reasons other than religious beliefs | LA19828-5 | ||
| Equipment failure | LA7497-6 | ||
| Diagnostic testing begun in lieu of screening based on clinical suspicion for CCHD | LA20946-2 | ||
| Infant being monitored or treated for non-CCHD condition | LA20947-0 | ||
| Comfort care only | LA25798-2 | ||
| Echocardiography normal | LA25799-0 | ||
| Missed/not documented | LA25800-6 | ||
| Other, Please describe | LA46-8 |
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
| 57794-0 | Newborn screening test results panel - DBS |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-MX | Spanish (Mexico) | Razón por la que no se realizó el cribado de saturación de oxígeno de la CCHD: |
| it-IT | Italian (Italy) | Motivo per cui non è stato eseguito lo screening della saturazione di ossigeno per difetti cardiaci congeniti critici: Synonyms: Esame obbiettivo Osservazione paziente Punto nel tempo (episodio) |
| ru-RU | Russian (Russian Federation) | Причина CCHD кислорода сатурации скрининг не выполнен: Synonyms: Насыщение кислородом Номинальный; |
| zh-CN | Chinese (China) | 未进行 CCHD 氧饱和度筛查的原因: Synonyms: Asympt O2; |
57723-9 Unique bar code number of Current sample
Observation Required in Panel
Required
Fully-Specified Name
- Component
- Unique bar code number
- Property
- ID
- Time
- Pt
- System
- Current sample
- Scale
- Nom
- Method
Additional Names
- Short Name
- Unique bar code # Current sample
- Display Name
- Unique bar code number Nom (Current sample) [ID]
- Consumer Name Alpha Get Info
- Unique bar code number, Current Sample
Basic Attributes
- Class
- SPEC
- Type
- Laboratory
- First Released
- Version 2.29
- Last Updated
- Version 2.73
- Order vs. Observation
- Observation
- Common Test Rank Get Info
- 6255
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
| 57794-0 | Newborn screening test results panel - DBS |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Número único de código de barras: |
| es-MX | Spanish (Mexico) | Número de código de barras único: |
| fr-FR | French (France) | Code barre numéro unique: |
| it-IT | Italian (Italy) | Numero unico di codice a barre: Synonyms: Caratteristiche campione Identificatore Punto nel tempo (episodio) |
| nl-NL | Dutch (Netherlands) | unieke barcodenummer: |
| pt-BR | Portuguese (Brazil) | Único número de código de barras: Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Уникальный штрих-код номер: Synonyms: Идентификатор Номинальный; |
| tr-TR | Turkish (Turkey) | Benzersiz/tek bar kod numarası: |
| zh-CN | Chinese (China) | 唯一性条形码编号: Synonyms: 个数; |
57711-4 Unique bar code number of Initial sample
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Unique bar code number
- Property
- ID
- Time
- Pt
- System
- Initial sample
- Scale
- Nom
- Method
Additional Names
- Short Name
- Unique bar code # Initial sample
- Display Name
- Unique bar code number Nom (Initial sample) [ID]
- Consumer Name Alpha Get Info
- Unique bar code number, Initial Sample
Basic Attributes
- Class
- SPEC
- Type
- Laboratory
- First Released
- Version 2.29
- Last Updated
- Version 2.36
- Order vs. Observation
- Observation
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
| 57794-0 | Newborn screening test results panel - DBS |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Número único de código de barras: |
| es-MX | Spanish (Mexico) | Número de código de barras único: |
| fr-FR | French (France) | Code barre numéro unique: |
| fr-BE | French (Belgium) | Numéro Bar-code unique: |
| it-IT | Italian (Italy) | Numero unico di codice a barre: Synonyms: Caratteristiche campione Identificatore Punto nel tempo (episodio) |
| nl-NL | Dutch (Netherlands) | unieke barcodenummer: |
| pt-BR | Portuguese (Brazil) | Único número de código de barras: Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Уникальный штрих-код номер: Synonyms: Идентификатор Номинальный; |
| tr-TR | Turkish (Turkey) | Benzersiz/tek bar kod numarası: |
| zh-CN | Chinese (China) | 唯一性条形码编号: Synonyms: 个数; |
62323-1 Post-discharge provider ID [Identifier]
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Post-discharge provider ID
- Property
- ID
- Time
- Pt
- System
- Provider
- Scale
- Nom
- Method
Additional Names
- Short Name
- Post-discharge provider ID
- Display Name
- Post-discharge provider ID Nom (Provider) [ID]
- Consumer Name Alpha Get Info
- Post-discharge Provider ID, Provider
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.56
- Last Updated
- Version 2.56
- Order vs. Observation
- Observation
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
| 57794-0 | Newborn screening test results panel - DBS |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | ID del proveedor después del alta: |
| es-MX | Spanish (Mexico) | Identificación del proveedor posterior al alta: |
| it-IT | Italian (Italy) | Provider post-dimissione, ID: Synonyms: Chimica ID di provider post-dimissione Identificatore Punto nel tempo (episodio) |
| ru-RU | Russian (Russian Federation) | После выбытие провайдер ID: Synonyms: Выписка Идентификатор Номинальный; |
| zh-CN | Chinese (China) | 出院后服务提供者标识符: Synonyms: XXX刺激 - 在...之后 之后于... 允许...离开(医院、 |
62324-9 Post-discharge provider name in Provider
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Post-discharge provider name
- Property
- Pn
- Time
- Pt
- System
- Provider
- Scale
- Nom
- Method
Additional Names
- Short Name
- Post-discharge provider name Provider
- Display Name
- Post-discharge provider name Nom (Provider)
- Consumer Name Alpha Get Info
- Post-discharge provider name, Provider
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.56
- Last Updated
- Version 2.56
- Order vs. Observation
- Observation
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
| 57794-0 | Newborn screening test results panel - DBS |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Nombre del proveedor después del alta: |
| es-MX | Spanish (Mexico) | Nombre del proveedor posterior al alta: |
| it-IT | Italian (Italy) | Provider post-dimissione, nome: Synonyms: Chimica Nome di persona Nome di provider post-dimissione Punto nel tempo (episodio) |
| ru-RU | Russian (Russian Federation) | После выбытие провайдер имя: Synonyms: Выписка Номинальный; |
| zh-CN | Chinese (China) | 出院后服务提供者姓名: Synonyms: XXX刺激 - 在...之后 之后于... 人名 允许...离开(医院、 |
62325-6 Post-discharge provider practice ID
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Post-discharge provider practice ID
- Property
- ID
- Time
- Pt
- System
- Provider
- Scale
- Nom
- Method
Additional Names
- Short Name
- Post-discharge provider practice ID
- Display Name
- Post-discharge provider practice ID Nom (Provider) [ID]
- Consumer Name Alpha Get Info
- Post-discharge Provider Practice ID, Provider
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.56
- Last Updated
- Version 2.56
- Order vs. Observation
- Observation
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
| 57794-0 | Newborn screening test results panel - DBS |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | ID del proveedor del servicio después del alta: |
| es-MX | Spanish (Mexico) | Identificación de la práctica del proveedor posterior al alta: |
| it-IT | Italian (Italy) | Provider post-dimissione, ID studio: Synonyms: Chimica ID studio di provider post-dimissione Identificatore Punto nel tempo (episodio) |
| ru-RU | Russian (Russian Federation) | После выбытие провайдер практика ID: Synonyms: Выписка Идентификатор Номинальный; |
| zh-CN | Chinese (China) | 出院后服务提供者执业标识符: Synonyms: XXX刺激 - 在...之后 之后于... 允许...离开(医院、 |
62326-4 Post-discharge provider practice name
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Post-discharge provider practice name
- Property
- ID
- Time
- Pt
- System
- Provider
- Scale
- Nom
- Method
Additional Names
- Short Name
- Post-discharge provider practice name
- Display Name
- Post-discharge provider practice name Nom (Provider) [ID]
- Consumer Name Alpha Get Info
- Post-discharge provider practice name, Provider
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.56
- Last Updated
- Version 2.56
- Order vs. Observation
- Observation
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
| 57794-0 | Newborn screening test results panel - DBS |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Nombre del proveedor del servicio después del alta: |
| es-MX | Spanish (Mexico) | Nombre de la práctica del proveedor posterior al alta: |
| it-IT | Italian (Italy) | Provider post-dimissione, nome studio: Synonyms: Chimica Identificatore Nome studio di provider post-dimissione Punto nel tempo (episodio) |
| ru-RU | Russian (Russian Federation) | После выбытие провайдер практика наименование: Synonyms: Выписка Идентификатор Номинальный; |
| zh-CN | Chinese (China) | 出院后服务提供者执业姓名: Synonyms: XXX刺激 - 在...之后 之后于... 允许...离开(医院、 |
62327-2 Post-discharge provider practice address
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Post-discharge provider practice address
- Property
- Addr
- Time
- Pt
- System
- Provider
- Scale
- Nom
- Method
Additional Names
- Short Name
- Post-disch prov practice address
- Display Name
- Post-discharge provider practice address Nom (Provider)
- Consumer Name Alpha Get Info
- Post-discharge provider practice address, Provider
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.56
- Last Updated
- Version 2.56
- Order vs. Observation
- Observation
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
| 57794-0 | Newborn screening test results panel - DBS |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Dirección del proveedor del servicio después del alta: |
| es-MX | Spanish (Mexico) | Dirección de la práctica del proveedor después del alta: |
| fr-FR | French (France) | Adresse fournisseur après traitement: |
| it-IT | Italian (Italy) | Provider post-dimissione, indirizzo studio: Synonyms: Chimica Indirizzo (HL7 data type) Indirizzo studio di provider post-dimissione Punto nel tempo (episodio) |
| ru-RU | Russian (Russian Federation) | После выбытие провайдер практика адрес: Synonyms: Адрес (HL7 data type) Выписка Номинальный; |
| zh-CN | Chinese (China) | 出院后服务提供者执业地址: Synonyms: XXX刺激 - 在...之后 之后于... 允许...离开(医院、 |
62328-0 Post-discharge provider practice phone number
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Post-discharge provider practice phone number
- Property
- Tele
- Time
- Pt
- System
- Provider
- Scale
- Nom
- Method
Additional Names
- Short Name
- Post-disch prov practice phone #
- Display Name
- Post-discharge provider practice telephone number Nom (Provider)
- Consumer Name Alpha Get Info
- Post-discharge Provider Practice Phone Number
Basic Attributes
- Class
- ADMIN
- Type
- Clinical
- First Released
- Version 2.56
- Last Updated
- Version 2.66
- Change Reason
- Updated "telephone" in Component to "phone" for consistency across terms that report a phone number. Updated Class from "LAB" to "ADMIN".
- Order vs. Observation
- Observation
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
| 57794-0 | Newborn screening test results panel - DBS |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-MX | Spanish (Mexico) | Número de teléfono de la consulta del proveedor después del alta: |
| es-ES | Spanish (Spain) | Número de telefono del proveedor del servicio después del alta: Synonyms: Número de teléfono (datos de HL7) |
| it-IT | Italian (Italy) | Provider post-dimissione, numero di telefono studio: Synonyms: Amministrativo Numero di telefono (HL7 datatype) Numero di telefono studio di provider post-dimissi Punto nel tempo (episodio) |
| ru-RU | Russian (Russian Federation) | После выбытие провайдер практика телефонный номер: Synonyms: Выписка Номинальный; |
| zh-CN | Chinese (China) | 出院后服务提供者执业机构电话号码: Synonyms: XXX刺激 - 在...之后 个数; |
62329-8 Birth hospital facility ID
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Birth hospital facility ID
- Property
- ID
- Time
- Pt
- System
- Facility
- Scale
- Nom
- Method
Additional Names
- Short Name
- Birth hospital ID
- Display Name
- Birth hospital facility ID Nom (Facility) [ID]
- Consumer Name Alpha Get Info
- Birth hospital facility ID
Basic Attributes
- Class
- ADMIN.FACILITY
- Type
- Clinical
- First Released
- Version 2.34
- Last Updated
- Version 2.67
- Order vs. Observation
- Observation
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
| 57794-0 | Newborn screening test results panel - DBS |
| 62863-6 | PhenX domain - Infectious diseases and immunity |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | ID facilitada por el hospital de origen: |
| es-MX | Spanish (Mexico) | Identificación de la instalación del hospital de nacimiento: |
| fr-FR | French (France) | ID hôpital de naissance: |
| it-IT | Italian (Italy) | Ospedale di nascita, ID struttura: Synonyms: Amministrativo ID ospedale di nascita Identificatore Punto nel tempo (episodio) Struttura |
| nl-NL | Dutch (Netherlands) | geboorteziekenhuis ID: |
| ru-RU | Russian (Russian Federation) | Рождение госпиталь учреждение ID: Synonyms: Идентификатор Идентификатор медицинской организации, зафиксировавшей рождение Номинальный; |
| tr-TR | Turkish (Turkey) | Doğum hastanesi tesis ID: |
| zh-CN | Chinese (China) | 出生医院设施标识符: Synonyms: 分类型应答; |
62330-6 Birth hospital facility name
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Birth hospital facility name
- Property
- ID
- Time
- Pt
- System
- Facility
- Scale
- Nom
- Method
Additional Names
- Short Name
- Birth hospital name
- Display Name
- Birth hospital facility name Nom (Facility) [ID]
- Consumer Name Alpha Get Info
- Birth hospital facility name
Basic Attributes
- Class
- ADMIN.FACILITY
- Type
- Clinical
- First Released
- Version 2.34
- Last Updated
- Version 2.67
- Order vs. Observation
- Observation
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
| 57794-0 | Newborn screening test results panel - DBS |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Nombre facilitado por el hospital de origen: |
| es-MX | Spanish (Mexico) | Nombre de la instalación del hospital de nacimiento: |
| fr-FR | French (France) | Nom hôpital de naissance: |
| it-IT | Italian (Italy) | Ospedale di nascita, nome struttura: Synonyms: Amministrativo Identificatore Nome ospedale di nascita Punto nel tempo (episodio) Struttura |
| nl-NL | Dutch (Netherlands) | geboorteziekenhuis naam: |
| ru-RU | Russian (Russian Federation) | Рождение госпиталь учреждение наименование: Synonyms: Идентификатор Номинальный; |
| tr-TR | Turkish (Turkey) | Doğum hastanesi tesis adı: |
| zh-CN | Chinese (China) | 出生医院设施名称: Synonyms: 分类型应答; |
62331-4 Birth hospital facility address
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Birth hospital facility address
- Property
- Addr
- Time
- Pt
- System
- Facility
- Scale
- Nom
- Method
Additional Names
- Short Name
- Birth hospital address
- Display Name
- Birth hospital facility address Nom (Facility)
- Consumer Name Alpha Get Info
- Birth hospital facility address
Basic Attributes
- Class
- ADMIN.FACILITY
- Type
- Clinical
- First Released
- Version 2.34
- Last Updated
- Version 2.67
- Order vs. Observation
- Observation
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
| 57794-0 | Newborn screening test results panel - DBS |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Dirección facilitada por el hospital de origen: |
| es-MX | Spanish (Mexico) | Dirección de la instalación del hospital de nacimiento: |
| fr-FR | French (France) | Adresse hôpital de naissance: |
| it-IT | Italian (Italy) | Ospedale di nascita, indirizzo struttura: Synonyms: Amministrativo Indirizzo (HL7 data type) Indirizzo ospedale di nascita Punto nel tempo (episodio) Struttura |
| nl-NL | Dutch (Netherlands) | geboorteziekenhuis adres: |
| ru-RU | Russian (Russian Federation) | Рождение госпиталь учреждение адрес: Synonyms: Адрес (HL7 data type) Номинальный; |
| tr-TR | Turkish (Turkey) | Doğum hastanesi tesis adresi: |
| zh-CN | Chinese (China) | 出生医院设施地址: Synonyms: 分类型应答; |
62332-2 Birth hospital facility phone number
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Birth hospital facility phone number
- Property
- Tele
- Time
- Pt
- System
- Facility
- Scale
- Nom
- Method
Additional Names
- Short Name
- Birth hospital phone #
- Display Name
- Birth hospital facility phone number Nom (Facility)
- Consumer Name Alpha Get Info
- Birth hospital facility phone number
Basic Attributes
- Class
- ADMIN.FACILITY
- Type
- Clinical
- First Released
- Version 2.34
- Last Updated
- Version 2.66
- Change Reason
- Updated Class from "LAB" to "ADMIN".
- Order vs. Observation
- Observation
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
| 57794-0 | Newborn screening test results panel - DBS |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Número de teléfono facilitado por el hospital de origen: Synonyms: Número de teléfono (datos de HL7) |
| es-MX | Spanish (Mexico) | Número de teléfono de la instalación del hospital de nacimiento: |
| fr-FR | French (France) | Numéro de téléphone hôpital de naissance: |
| it-IT | Italian (Italy) | Ospedale di nascita, numero di telefono struttura: Synonyms: Amministrativo Numero di telefono (HL7 datatype) Numero di telefono ospedale di nascita Punto nel tempo (episodio) Struttura |
| nl-NL | Dutch (Netherlands) | geboorteziekenhuis telefoonnummer: |
| ru-RU | Russian (Russian Federation) | Рождение госпиталь учреждение телефонный номер: Synonyms: Номинальный; |
| tr-TR | Turkish (Turkey) | Doğum hastanesi telefon numarası: |
| zh-CN | Chinese (China) | 出生医院设施电话号码: Synonyms: 个数; |
54089-8 Newborn screening panel American Health Information Community (AHIC)
Part Descriptions
LP33025-5 Newborn screening panel
Newborn screening is the process of testing newborn babies for treatable genetic, endocrinologic, metabolic and hematologic diseases. Robert Guthrie is given much of the credit for pioneering the earliest screening for phenylketonuria in the late 1960s using blood samples on filter paper obtained by pricking a newborn baby's heel on the second day of life to get a few drops of blood. Congenital hypothyroidism was the second disease widely added in the 1970s. The development of tandem mass spectrometry screening by Edwin Naylor and others in the early 1990s led to a large expansion of potentially detectable congenital metabolic diseases that affect blood levels of organic acids. Additional tests have been added to many screening programs over the last two decades. Newborn screening has been adopted by most countries around the world, though the lists of screened diseases vary widely.
Copyright Text is available under the Creative Commons Attribution/Share-Alike License. See http://creativecommons.org/licenses/by-sa/3.0/ for details.
Source: Wikipedia, Newborn screening
Fully-Specified Name
- Component
- Newborn screening panel
- Property
- -
- Time
- Pt
- System
- ^Patient
- Scale
- -
- Method
- AHIC
Additional Names
- Short Name
- NB Screen Pnl Patient AHIC
- Display Name
- NBS panel AHIC
- Consumer Name Alpha Get Info
- NBS panel
Basic Attributes
- Class
- PANEL.CHEM
- Type
- Laboratory
- First Released
- Version 2.26
- Last Updated
- Version 2.77
- Order vs. Observation
- Order
- Common Test Rank Get Info
- 1192
- Panel Type
- Panel
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Panel de screening del recien nacido: |
| es-MX | Spanish (Mexico) | Panel de detección de recién nacidos: |
| fr-CA | French (Canada) | Dépistage néonatal: |
| fr-BE | French (Belgium) | Dépistage néonatal: |
| it-IT | Italian (Italy) | Screening neonatale, panel: Synonyms: American Health Information Community (AHIC) Chimica Panel screening neonatale paziente Punto nel tempo (episodio) Set di prescrizione chimica |
| nl-NL | Dutch (Netherlands) | pasgeborene screening panel: Synonyms: American Health Information Community |
| pt-BR | Portuguese (Brazil) | Recém nascido triagem painel: Synonyms: ; |
| zh-CN | Chinese (China) | 新生儿筛查组套: Synonyms: Asympt SCN 化学; |
73738-7 Newborn screening test results panel - Point of Care
Term Description
The newborn screening test results panel - point of care covers screening that is done at the bedside prior to the infant's discharge from the hospital. Whereas most newborn screening tests are run on dried blood spots, two (hearing screening and critical congenital heart disease screening) are done as point-of-care tests.
Source: Regenstrief LOINC
Fully-Specified Name
- Component
- Newborn screening test results panel
- Property
- -
- Time
- Pt
- System
- ^Patient
- Scale
- -
- Method
Additional Names
- Short Name
- NBS test results pnl - POC
Basic Attributes
- Class
- PANEL.H&P
- Type
- Clinical
- First Released
- Version 2.44
- Last Updated
- Version 2.77
- Order vs. Observation
- Order
- Panel Type
- Organizer
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Panel de resultados de tests de cribado del recién nacido: |
| es-MX | Spanish (Mexico) | Panel de resultados de la prueba de detección del recién nacido: |
| fr-FR | French (France) | Dépistage néonatal - Résultats des tests panel: |
| it-IT | Italian (Italy) | Screening neonatale, panel risultati test: Synonyms: Panel risultati test di screening neonatale paziente Punto nel tempo (episodio) Set di prescrizione per anamnesi e esame obiettivo |
| nl-NL | Dutch (Netherlands) | pasgeborene screening testresultaten panel: |
| ru-RU | Russian (Russian Federation) | Новорождённый скрининг тест результаты панель: Synonyms: Точка во времени; |
| zh-CN | Chinese (China) | 新生儿筛查试验结果组套: Synonyms: Asympt SCN 医嘱套餐 医嘱套餐类 医嘱套餐组 医嘱组 医嘱组.病史与体格检查小节; |
54111-0 Newborn hearing screening panel
Fully-Specified Name
- Component
- Newborn hearing screening panel
- Property
- -
- Time
- Pt
- System
- ^Patient
- Scale
- -
- Method
Additional Names
- Short Name
- NB hear screen Pnl
Basic Attributes
- Class
- PANEL.H&P
- Type
- Clinical
- First Released
- Version 2.26
- Last Updated
- Version 2.77
- Change Reason
- Panel contains observations relevant to the screening itself, not necessarily to hearing loss.
- Order vs. Observation
- Order
- Panel Type
- Panel
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| de-DE | German (Germany) | Neugeborenen-Hörscreening (Liste): |
| es-MX | Spanish (Mexico) | Panel de evaluación auditiva para recién nacidos: |
| fr-BE | French (Belgium) | Panel screening nouveau-né audition: |
| it-IT | Italian (Italy) | Neonato, panel perdita udito: Synonyms: Panel perdita dell''udio nel neonato paziente Punto nel tempo (episodio) Set di prescrizione per anamnesi e esame obiettivo Udito del neonato |
| pt-BR | Portuguese (Brazil) | Recém-nascido painel de perda auditiva: Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Новорождённый слух скрин панель: Synonyms: Точка во времени; |
| zh-CN | Chinese (China) | 新生儿听力损失筛查组套: Synonyms: Asympt SCN 医嘱套餐 医嘱套餐类 医嘱套餐组 医嘱组 医嘱组.病史与体格检查小节; |
57700-7 Hearing loss newborn screening comment/discussion
Part Descriptions
LP56780-7 Hearing loss
A general term for the complete or partial loss of the ability to hear from one or both ears.
Source: National Library of Medicine, MeSH 2006
Fully-Specified Name
- Component
- Hearing loss newborn screening comment-discussion
- Property
- Txt
- Time
- Pt
- System
- Ear
- Scale
- Nar
- Method
Additional Names
- Short Name
- Hearing loss NBS comment/discussion
- Display Name
- Hearing loss newborn screening comment-discussion Nar (Ear)
- Consumer Name Alpha Get Info
- Hearing loss newborn screening comment-discussion, Ear
Basic Attributes
- Class
- H&P.HX.LAB
- Type
- Laboratory
- First Released
- Version 2.29
- Last Updated
- Version 2.46
- Order vs. Observation
- Observation
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54111-0 | Newborn hearing screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| de-DE | German (Germany) | Hörverlust Neugeborenen-Screening Kommentar-Diskussion: |
| es-ES | Spanish (Spain) | Pérdida auditiva screnning de recién nacidos comentario-discusión: |
| es-MX | Spanish (Mexico) | Comentario / discusión sobre la detección del recién nacido con pérdida auditiva: |
| it-IT | Italian (Italy) | Perdita di udito, screening neonatale, commenti-discussione: Synonyms: Anamnesi Anamnesi pertinente a esami di laboratorio Commento/discussione di screening neonatale per perdita di udito Punto nel tempo (episodio) Testo |
| nl-NL | Dutch (Netherlands) | gehoorverlies screening van pasgeborene commentaar-discussie: |
| pt-BR | Portuguese (Brazil) | Perda auditiva na triagem neonatal comentários-discussão: Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Слух потеря новорожденный скрининг комментарий-дискуссия: Synonyms: Описательный Потеря слуха Текст Точка во времени; |
| tr-TR | Turkish (Turkey) | İşitme kaybı yenidoğan tarama öneri-tartışma: |
| zh-CN | Chinese (China) | 听力损失 新生儿筛查注释-讨论: Synonyms: Asympt SCN 化验室 化验科 历史纪录与体格检查 历史纪录与体格检查.历史记录; |
58232-0 Hearing loss risk indicators [Identifier]
Term Description
This question should be answered as part of the order and/or result of new born screen for hearing loss. It is intended to capture the risk factors identified by the Joint committee on Infant Hearing (JCIH) in appendix 2 of their recommendations (Pediatrics 2007;120;898-921). The user should always provide an answer (none if no risk factors exist) and otherwise pick as many answers as apply. The observations must be included IF the hearing screening result is delivered as part of this report.
Source: Regenstrief LOINC
Fully-Specified Name
- Component
- Hearing loss risk indicators
- Property
- Prid
- Time
- Pt
- System
- ^Patient
- Scale
- Nom
- Method
Additional Names
- Short Name
- Hearing loss risk indicators
Basic Attributes
- Class
- H&P.HX
- Type
- Clinical
- First Released
- Version 2.30
- Last Updated
- Version 2.56
- Change Reason
- Changed answer list from "Normative" to "Preferred" to fit the current LOINC model.
Preferred Answer List LL862-4
| Answer | Code | Score | Answer ID |
|---|---|---|---|
| Family Hx of hearing loss | LA12668-2 | ||
| ICU stay > 5 days | LA12669-0 | ||
| Hyperbilirubinemia with exchange transfusion | LA12673-2 | ||
| Aminoglycoside administration for more than 5 days | LA12672-4 | ||
| Asphyxia or Hypoxic Ischemic Encephalopathy | LA31563-2 | ||
| ECMO | LA12670-8 | ||
| In utero infection(s) such as herpes, rubella, syphilis, and toxoplasmosis | LA12674-0 | ||
| In utero infection with cytomegalovirus (CMV) | LA31564-0 | ||
| Mother + Zika and infant with no laboratory evidence and no clinical findings | LA31565-7 | ||
| Mother + Zika and infant with laboratory evidence of Zika | LA31566-5 | ||
| Craniofacial malformations: Other (e.g., ear dysplasia, oral facial clefting, white forelock, microphthalmia) | LA31852-9 | ||
| Craniofacial malformations: microtia/atresia | LA31853-7 | ||
| Congenital microcephaly, congenital or acquired hydrocephalus | LA31567-3 | ||
| Temporal bone abnormalities | LA31568-1 | ||
| Syndromes associated with atypical hearing thresholds | LA12676-5 | ||
| Culture-positive infections associated with sensorineural hearing loss | LA12678-1 | ||
| Significant head trauma | LA12679-9 | ||
| Chemotherapy | LA6172-6 | ||
| Caregiver concern about hearing | LA12667-4 | ||
| None Copyright http://snomed.info/sct ID:260413007 None (qualifier value) | LA137-2 |
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54111-0 | Newborn hearing screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
| 57794-0 | Newborn screening test results panel - DBS |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| de-DE | German (Germany) | Hörverlust Risikoindikatoren: |
| es-MX | Spanish (Mexico) | Indicadores de riesgo de pérdida auditiva: |
| it-IT | Italian (Italy) | Perdita uditiva, indicatori di rischio: Synonyms: Anamnesi Indicatori di rischio di perdita uditiva paziente Presenza o Identità Punto nel tempo (episodio) |
| pt-BR | Portuguese (Brazil) | Indicadores de risco para perda auditiva: Synonyms: Identity or presence; |
| ru-RU | Russian (Russian Federation) | Слух потеря риск индикаторы: Synonyms: Номинальный; |
| zh-CN | Chinese (China) | 听力损失风险指标: Synonyms: 分类型应答; |
Third Party Copyright
This material includes SNOMED Clinical Terms® (SNOMED CT®) which is used by permission of the International Health Terminology Standards Development Organisation (IHTSDO) under license. All rights reserved. SNOMED CT® was originally created by The College of American Pathologists. "SNOMED" and "SNOMED CT" are registered trademarks of the IHTSDO.
This material includes content from the US Edition to SNOMED CT, which is developed and maintained by the U.S. National Library of Medicine and is available to authorized UMLS Metathesaurus Licensees from the UTS Downloads site at https://uts.nlm.nih.gov.
Use of SNOMED CT content is subject to the terms and conditions set forth in the SNOMED CT Affiliate License Agreement. It is the responsibility of those implementing this product to ensure they are appropriately licensed and for more information on the license, including how to register as an Affiliate Licensee, please refer to http://www.snomed.org/snomed-ct/get-snomed-ct or info@snomed.org<mailto:info@snomed.org>. This may incur a fee in SNOMED International non-Member countries.
54106-0 Newborn hearing screen method
Fully-Specified Name
- Component
- Newborn hearing screen method
- Property
- Type
- Time
- Pt
- System
- Ear
- Scale
- Nom
- Method
Additional Names
- Short Name
- NB hearing scn meth
Basic Attributes
- Class
- H&P.HX
- Type
- Clinical
- First Released
- Version 2.26
- Last Updated
- Version 2.73
- Change Reason
- Changed answer list from "Normative" to "Preferred" to fit the current LOINC model.
- Order vs. Observation
- Observation
Preferred Answer List LL617-2
| Answer | Code | Score | Answer ID |
|---|---|---|---|
| Automated auditory brainstem response | AABR | LA10387-1 | |
| Auditory brain stem response | ABR | LA10388-9 | |
| Otoacoustic emissions | OAE | LA10389-7 | |
| Distortion product otoacoustic emissions | DPOAE | LA10390-5 | |
| Transient otoacoustic emissions | TOAE | LA10391-3 | |
| Methodology unknown | LA12406-7 |
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54111-0 | Newborn hearing screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
| 57794-0 | Newborn screening test results panel - DBS |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| de-DE | German (Germany) | Hören bei Neugeborenen Screening: |
| es-MX | Spanish (Mexico) | Método de evaluación auditiva para recién nacidos: |
| it-IT | Italian (Italy) | Neonato, udito, screening, metodo: Synonyms: , metodo di screening Anamnesi Punto nel tempo (episodio) Screening uditivo del neonato Udito del neonato |
| pt-BR | Portuguese (Brazil) | Recém-nascido método de triagem da audição: Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Новорождённого слух скрин метод: Synonyms: Номинальный; |
| zh-CN | Chinese (China) | 新生儿听力 筛查方法: Synonyms: 分类型应答; |
73741-1 Newborn hearing screen panel - Left Ear
Term Description
The newborn hearing loss panel [left ear] includes all of the terms relevant to reporting left ear newborn hearing screen results. It does not include terms that are relevant to both ears, such as the comment/discussion and hearing loss risk indicators.
Source: Regenstrief LOINC
Fully-Specified Name
- Component
- Newborn hearing screen panel
- Property
- -
- Time
- Pt
- System
- Ear.left
- Scale
- -
- Method
Additional Names
- Short Name
- NBS hear pnl Ear-L
Basic Attributes
- Class
- PANEL.H&P
- Type
- Clinical
- First Released
- Version 2.44
- Last Updated
- Version 2.77
- Order vs. Observation
- Order
- Panel Type
- Panel
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54111-0 | Newborn hearing screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| de-DE | German (Germany) | Neugeborenen-Hörscreening (Liste): |
| es-MX | Spanish (Mexico) | Panel de pantalla de audición para recién nacidos: |
| it-IT | Italian (Italy) | Neonato, screening udito, panel: Synonyms: Orecchio Sinistro Panel screening uditivo del neonato Punto nel tempo (episodio) Screening uditivo del neonato Set di prescrizione per anamnesi e esame obiettivo Udito del neonato |
| ru-RU | Russian (Russian Federation) | Новорождённого слух скрин панель: Synonyms: Панель скрин слуха новорождённого Точка во времени; |
| zh-CN | Chinese (China) | 新生儿听力筛查组套: Synonyms: L LT 医嘱套餐 医嘱套餐类 医嘱套餐组 医嘱组 医嘱组.病史与体格检查小节; |
54108-6 Newborn hearing screen of Ear - left
Fully-Specified Name
- Component
- Newborn hearing screen
- Property
- Arb
- Time
- Pt
- System
- Ear.left
- Scale
- Ord
- Method
Additional Names
- Short Name
- NB hearing scn Ear-L
Basic Attributes
- Class
- H&P.HX
- Type
- Clinical
- First Released
- Version 2.26
- Last Updated
- Version 2.73
- Change Reason
- Changed answer list from "Normative" to "Preferred" to fit the current LOINC model.
- Order vs. Observation
- Both
Preferred Answer List LL618-0
| Answer | Code | Score | Answer ID |
|---|---|---|---|
| Pass | LA10392-1 | ||
| Refer Copyright http://snomed.info/sct ID:183924009 Referral needed (finding) | LA10393-9 | ||
| Parental refusal Copyright http://snomed.info/sct ID:609589008 Refused by parents of subject (qualifier value) | LA6644-4 | ||
| Attempted, but unsuccessful - technical fail Copyright http://snomed.info/sct ID:103709008 Failed attempted procedure (situation) | LA12408-3 | ||
| Not performed Copyright http://snomed.info/sct ID:262008008 Not performed (qualifier value) | LA7304-4 | ||
| Not performed, medical exclusion - not indicated Copyright http://snomed.info/sct ID:410534003 Not indicated (qualifier value) | LA12409-1 |
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54111-0 | Newborn hearing screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
| 57794-0 | Newborn screening test results panel - DBS |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-MX | Spanish (Mexico) | Pantalla de audición para recién nacidos: |
| it-IT | Italian (Italy) | Neonato, screening udito: Synonyms: Anamnesi Arbitrario Orecchio Sinistro Punto nel tempo (episodio) Screening uditivo del neonato Udito del neonato |
| pt-BR | Portuguese (Brazil) | Recém-nascido triagem de audição: Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Новорождённый слух скрин: Synonyms: Порядковый Произвольный Точка во времени; |
| zh-CN | Chinese (China) | 新生儿听力筛查: Synonyms: L LT 任意; |
Third Party Copyright
This material includes SNOMED Clinical Terms® (SNOMED CT®) which is used by permission of the International Health Terminology Standards Development Organisation (IHTSDO) under license. All rights reserved. SNOMED CT® was originally created by The College of American Pathologists. "SNOMED" and "SNOMED CT" are registered trademarks of the IHTSDO.
This material includes content from the US Edition to SNOMED CT, which is developed and maintained by the U.S. National Library of Medicine and is available to authorized UMLS Metathesaurus Licensees from the UTS Downloads site at https://uts.nlm.nih.gov.
Use of SNOMED CT content is subject to the terms and conditions set forth in the SNOMED CT Affiliate License Agreement. It is the responsibility of those implementing this product to ensure they are appropriately licensed and for more information on the license, including how to register as an Affiliate Licensee, please refer to http://www.snomed.org/snomed-ct/get-snomed-ct or info@snomed.org<mailto:info@snomed.org>. This may incur a fee in SNOMED International non-Member countries.
73740-3 Screening duration of Ear - left
Term Description
The duration of screening [left ear] indicates the length of time taken to perform the left ear newborn hearing screen.
Source: Regenstrief LOINC
Fully-Specified Name
- Component
- Screening duration
- Property
- Time
- Time
- Pt
- System
- Ear.left
- Scale
- Qn
- Method
Additional Names
- Short Name
- Screen dur Ear-L
Basic Attributes
- Class
- H&P.PX
- Type
- Clinical
- First Released
- Version 2.44
- Last Updated
- Version 2.52
- Change Reason
- Changed Component name from 'Duration of screening' for consistency across "duration" terms and better term sorting.
- Order vs. Observation
- Observation
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54111-0 | Newborn hearing screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-MX | Spanish (Mexico) | Duración del cribado: |
| it-IT | Italian (Italy) | Durata dello screening: Synonyms: Esame obbiettivo Orecchio Sinistro Punto nel tempo (episodio) Tempo (e.g. secondi) |
| ru-RU | Russian (Russian Federation) | Продолжительность скринига: Synonyms: Время (в т.ч. в секундах) Количественный Точка во времени; |
| zh-CN | Chinese (China) | 筛查持续时间: Synonyms: Asympt L LT SCN 体格检查小节与指标; |
Example Units
| Unit | Source |
|---|---|
| min | Example UCUM Units |
73739-5 Newborn hearing screen reason not performed of Ear - left
Term Description
Newborn hearing screening is universally mandated in the United States. Newborn hearing screen reason not performed explains why, in certain circumstances, the screening was not done for a particular infant.
Source: Regenstrief LOINC
Fully-Specified Name
- Component
- Newborn hearing screen reason not performed
- Property
- Find
- Time
- Pt
- System
- Ear.left
- Scale
- Nom
- Method
Additional Names
- Short Name
- NBS reason not prfmed Ear-L
Basic Attributes
- Class
- H&P.PX
- Type
- Clinical
- First Released
- Version 2.44
- Last Updated
- Version 2.56
- Change Reason
- Changed answer list from "Normative" to "Preferred" to fit the current LOINC model.
- Order vs. Observation
- Observation
Preferred Answer List LL2769-9
| Answer | Code | Score | Answer ID |
|---|---|---|---|
| Attempted, but unsuccessful - technical fail Copyright http://snomed.info/sct ID:103709008 Failed attempted procedure (situation) | LA12408-3 | ||
| Not performed, medical exclusion - not indicated Copyright http://snomed.info/sct ID:410534003 Not indicated (qualifier value) | LA12409-1 | ||
| Patient died Copyright http://snomed.info/sct ID:397709008 Patient died (finding) | LA20644-3 | ||
| Parental refusal Copyright http://snomed.info/sct ID:609589008 Refused by parents of subject (qualifier value) | LA6644-4 | ||
| Procedure refused for religious reason Copyright http://snomed.info/sct ID:183945002 Procedure declined for religious reason (situation) | LA20643-5 |
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54111-0 | Newborn hearing screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-MX | Spanish (Mexico) | Razón de la prueba de audición del recién nacido no realizada: |
| it-IT | Italian (Italy) | Neonato, screening udito, motivo per cui non è stato eseguito: Synonyms: Esame obbiettivo Motivo per cui non è stato eseguito lo screening u Orecchio Sinistro Osservazione Punto nel tempo (episodio) Screening uditivo del neonato Udito del neonato |
| ru-RU | Russian (Russian Federation) | Новорождённого слух скрин причина не выполнен: Synonyms: Номинальный; |
| zh-CN | Chinese (China) | 关于未进行新生儿听力筛查的原因: Synonyms: L LT 体格检查小节与指标; |
Third Party Copyright
This material includes SNOMED Clinical Terms® (SNOMED CT®) which is used by permission of the International Health Terminology Standards Development Organisation (IHTSDO) under license. All rights reserved. SNOMED CT® was originally created by The College of American Pathologists. "SNOMED" and "SNOMED CT" are registered trademarks of the IHTSDO.
This material includes content from the US Edition to SNOMED CT, which is developed and maintained by the U.S. National Library of Medicine and is available to authorized UMLS Metathesaurus Licensees from the UTS Downloads site at https://uts.nlm.nih.gov.
Use of SNOMED CT content is subject to the terms and conditions set forth in the SNOMED CT Affiliate License Agreement. It is the responsibility of those implementing this product to ensure they are appropriately licensed and for more information on the license, including how to register as an Affiliate Licensee, please refer to http://www.snomed.org/snomed-ct/get-snomed-ct or info@snomed.org<mailto:info@snomed.org>. This may incur a fee in SNOMED International non-Member countries.
73744-5 Newborn hearing screen panel - Right Ear
Term Description
The newborn hearing loss panel [right ear] includes all of the terms relevant to reporting right ear newborn hearing screen results. It does not include terms that are relevant to both ears, such as the comment/discussion and hearing loss risk indicators.
Source: Regenstrief LOINC
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Newborn hearing screen panel
- Property
- -
- Time
- Pt
- System
- Ear.right
- Scale
- -
- Method
Additional Names
- Short Name
- NBS hear pnl Ear-R
Basic Attributes
- Class
- PANEL.H&P
- Type
- Clinical
- First Released
- Version 2.44
- Last Updated
- Version 2.77
- Order vs. Observation
- Order
- Panel Type
- Panel
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54111-0 | Newborn hearing screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| de-DE | German (Germany) | Neugeborenen-Hörscreening (Liste): |
| es-MX | Spanish (Mexico) | Panel de pantalla de audición para recién nacidos: |
| it-IT | Italian (Italy) | Neonato, screening udito, panel: Synonyms: Orecchio Destro Panel screening uditivo del neonato Punto nel tempo (episodio) Screening uditivo del neonato Set di prescrizione per anamnesi e esame obiettivo Udito del neonato |
| ru-RU | Russian (Russian Federation) | Новорождённого слух скрин панель: Synonyms: Панель скрин слуха новорождённого Точка во времени; |
| zh-CN | Chinese (China) | 新生儿听力筛查组套: Synonyms: R RT 医嘱套餐 医嘱套餐类 医嘱套餐组 医嘱组 医嘱组.病史与体格检查小节; |
54109-4 Newborn hearing screen of Ear - right
Observation Required in Panel
Required
Fully-Specified Name
- Component
- Newborn hearing screen
- Property
- Arb
- Time
- Pt
- System
- Ear.right
- Scale
- Ord
- Method
Additional Names
- Short Name
- NB hearing scn Ear-R
Basic Attributes
- Class
- H&P.HX
- Type
- Clinical
- First Released
- Version 2.26
- Last Updated
- Version 2.73
- Change Reason
- Changed answer list from "Normative" to "Preferred" to fit the current LOINC model.
- Order vs. Observation
- Both
Preferred Answer List LL618-0
| Answer | Code | Score | Answer ID |
|---|---|---|---|
| Pass | LA10392-1 | ||
| Refer Copyright http://snomed.info/sct ID:183924009 Referral needed (finding) | LA10393-9 | ||
| Parental refusal Copyright http://snomed.info/sct ID:609589008 Refused by parents of subject (qualifier value) | LA6644-4 | ||
| Attempted, but unsuccessful - technical fail Copyright http://snomed.info/sct ID:103709008 Failed attempted procedure (situation) | LA12408-3 | ||
| Not performed Copyright http://snomed.info/sct ID:262008008 Not performed (qualifier value) | LA7304-4 | ||
| Not performed, medical exclusion - not indicated Copyright http://snomed.info/sct ID:410534003 Not indicated (qualifier value) | LA12409-1 |
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54111-0 | Newborn hearing screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
| 57794-0 | Newborn screening test results panel - DBS |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-MX | Spanish (Mexico) | Pantalla de audición para recién nacidos: |
| it-IT | Italian (Italy) | Neonato, screening udito: Synonyms: Anamnesi Arbitrario Orecchio Destro Punto nel tempo (episodio) Screening uditivo del neonato Udito del neonato |
| pt-BR | Portuguese (Brazil) | Recém-nascido triagem de audição: Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Новорождённый слух скрин: Synonyms: Порядковый Произвольный Точка во времени; |
| zh-CN | Chinese (China) | 新生儿听力筛查: Synonyms: R RT 任意; |
Third Party Copyright
This material includes SNOMED Clinical Terms® (SNOMED CT®) which is used by permission of the International Health Terminology Standards Development Organisation (IHTSDO) under license. All rights reserved. SNOMED CT® was originally created by The College of American Pathologists. "SNOMED" and "SNOMED CT" are registered trademarks of the IHTSDO.
This material includes content from the US Edition to SNOMED CT, which is developed and maintained by the U.S. National Library of Medicine and is available to authorized UMLS Metathesaurus Licensees from the UTS Downloads site at https://uts.nlm.nih.gov.
Use of SNOMED CT content is subject to the terms and conditions set forth in the SNOMED CT Affiliate License Agreement. It is the responsibility of those implementing this product to ensure they are appropriately licensed and for more information on the license, including how to register as an Affiliate Licensee, please refer to http://www.snomed.org/snomed-ct/get-snomed-ct or info@snomed.org<mailto:info@snomed.org>. This may incur a fee in SNOMED International non-Member countries.
73743-7 Screening duration of Ear - right
Term Description
The duration of screening [right ear] indicates the length of time taken to perform the right ear newborn hearing screen.
Source: Regenstrief LOINC
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Screening duration
- Property
- Time
- Time
- Pt
- System
- Ear.right
- Scale
- Qn
- Method
Additional Names
- Short Name
- Screen dur Ear-R
Basic Attributes
- Class
- H&P.PX
- Type
- Clinical
- First Released
- Version 2.44
- Last Updated
- Version 2.52
- Change Reason
- Changed Component name from 'Duration of screening' for consistency across terms and better term sorting.
- Order vs. Observation
- Observation
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54111-0 | Newborn hearing screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-MX | Spanish (Mexico) | Duración del cribado: |
| it-IT | Italian (Italy) | Durata dello screening: Synonyms: Esame obbiettivo Orecchio Destro Punto nel tempo (episodio) Tempo (e.g. secondi) |
| ru-RU | Russian (Russian Federation) | Продолжительность скринига: Synonyms: Время (в т.ч. в секундах) Количественный Точка во времени; |
| zh-CN | Chinese (China) | 筛查持续时间: Synonyms: Asympt R RT SCN 体格检查小节与指标; |
Example Units
| Unit | Source |
|---|---|
| min | Example UCUM Units |
73742-9 Newborn hearing screen reason not performed of Ear - right
Term Description
Newborn hearing screening is universally mandated in the United States. Newborn hearing screen reason not performed explains why, in certain circumstances, the screening was not done for a particular infant.
Source: Regenstrief LOINC
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Newborn hearing screen reason not performed
- Property
- Find
- Time
- Pt
- System
- Ear.right
- Scale
- Nom
- Method
Additional Names
- Short Name
- NBS reason not prfmed Ear-R
Basic Attributes
- Class
- H&P.PX
- Type
- Clinical
- First Released
- Version 2.44
- Last Updated
- Version 2.52
- Order vs. Observation
- Observation
Example Answer List LL2769-9
| Answer | Code | Score | Answer ID |
|---|---|---|---|
| Attempted, but unsuccessful - technical fail Copyright http://snomed.info/sct ID:103709008 Failed attempted procedure (situation) | LA12408-3 | ||
| Not performed, medical exclusion - not indicated Copyright http://snomed.info/sct ID:410534003 Not indicated (qualifier value) | LA12409-1 | ||
| Patient died Copyright http://snomed.info/sct ID:397709008 Patient died (finding) | LA20644-3 | ||
| Parental refusal Copyright http://snomed.info/sct ID:609589008 Refused by parents of subject (qualifier value) | LA6644-4 | ||
| Procedure refused for religious reason Copyright http://snomed.info/sct ID:183945002 Procedure declined for religious reason (situation) | LA20643-5 |
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54111-0 | Newborn hearing screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-MX | Spanish (Mexico) | Razón de la prueba de audición del recién nacido no realizada: |
| it-IT | Italian (Italy) | Neonato, screening udito, motivo per cui non è stato eseguito: Synonyms: Esame obbiettivo Motivo per cui non è stato eseguito lo screening u Orecchio Destro Osservazione Punto nel tempo (episodio) Screening uditivo del neonato Udito del neonato |
| ru-RU | Russian (Russian Federation) | Новорождённого слух скрин причина не выполнен: Synonyms: Номинальный; |
| zh-CN | Chinese (China) | 关于未进行新生儿听力筛查的原因: Synonyms: R RT 体格检查小节与指标; |
Third Party Copyright
This material includes SNOMED Clinical Terms® (SNOMED CT®) which is used by permission of the International Health Terminology Standards Development Organisation (IHTSDO) under license. All rights reserved. SNOMED CT® was originally created by The College of American Pathologists. "SNOMED" and "SNOMED CT" are registered trademarks of the IHTSDO.
This material includes content from the US Edition to SNOMED CT, which is developed and maintained by the U.S. National Library of Medicine and is available to authorized UMLS Metathesaurus Licensees from the UTS Downloads site at https://uts.nlm.nih.gov.
Use of SNOMED CT content is subject to the terms and conditions set forth in the SNOMED CT Affiliate License Agreement. It is the responsibility of those implementing this product to ensure they are appropriately licensed and for more information on the license, including how to register as an Affiliate Licensee, please refer to http://www.snomed.org/snomed-ct/get-snomed-ct or info@snomed.org<mailto:info@snomed.org>. This may incur a fee in SNOMED International non-Member countries.
73805-4 CCHD newborn screening panel
Term Description
The critical congenital heart disease (CCHD) newborn screening panel was developed by the National Library of Medicine in conjunction with the Health Resources and Services Administration (HRSA), Oz Systems, and Children's National Medical Center with input from several state public health newborn screening programs.
Source: Regenstrief LOINC
Fully-Specified Name
- Component
- CCHD newborn screening panel
- Property
- -
- Time
- Pt
- System
- ^Patient
- Scale
- -
- Method
Additional Names
- Short Name
- CCHD NBS Pnl
Basic Attributes
- Class
- PANEL.H&P
- Type
- Clinical
- First Released
- Version 2.44
- Last Updated
- Version 2.77
- Order vs. Observation
- Order
- Panel Type
- Panel
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-MX | Spanish (Mexico) | Panel de cribado neonatal de CCHD: |
| it-IT | Italian (Italy) | CCHD neonato, screening, panel: Synonyms: Panel screening neonatale Panel screening neonato CCHD paziente Punto nel tempo (episodio) Set di prescrizione per anamnesi e esame obiettivo |
| ru-RU | Russian (Russian Federation) | CCHD новорождённых скрининг панель: Synonyms: Точка во времени; |
| zh-CN | Chinese (China) | CCHD 新生儿筛查组套: Synonyms: Asympt CCHD 新生儿（NB）筛查（筛选、 |
73700-7 CCHD newborn screening interpretation
Term Description
The critical congenital heart defects (CCHD) newborn screening interpretation is the end result of the screening event and is based on the preductal and postductal oxygen saturation measurements as well as the difference between the preductal and postductal measurement. The interpretation will also depend on the particular protocol used for screening.
Source: Regenstrief LOINC
Fully-Specified Name
- Component
- CCHD newborn screening interpretation
- Property
- Imp
- Time
- Pt
- System
- ^Patient
- Scale
- Nom
- Method
Additional Names
- Short Name
- CCHD NBS interp
Basic Attributes
- Class
- H&P.PX
- Type
- Clinical
- First Released
- Version 2.44
- Last Updated
- Version 2.73
- Change Reason
- Changed answer list from "Normative" to "Preferred" to fit the current LOINC model.
- Order vs. Observation
- Observation
Preferred Answer List LL2453-0
| Answer | Code | Score | Answer ID |
|---|---|---|---|
| In range | LA18592-8 | ||
| Out of range | LA18593-6 | ||
| Inconclusive, repeat screen needed | LA19816-0 | ||
| Attempted but unsuccessful - technical fail | LA19817-8 | ||
| Not performed Copyright http://snomed.info/sct ID:262008008 Not performed (qualifier value) | LA7304-4 |
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
| 57794-0 | Newborn screening test results panel - DBS |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-MX | Spanish (Mexico) | Interpretación del cribado neonatal de CCHD: |
| it-IT | Italian (Italy) | CCHD neonato, screening, interpretazione: Synonyms: Esame obbiettivo Impressione/interpretazione di studio Interpretazione dello screening neonato CCHD paziente Punto nel tempo (episodio) |
| ru-RU | Russian (Russian Federation) | CCHD новорождённого скрининг интерпретация: Synonyms: Впечатление/интерпретация исследования Номинальный; |
| zh-CN | Chinese (China) | CCHD 新生儿筛查解释: Synonyms: Asympt CCHD 新生儿（NB）筛查（筛选、 |
Third Party Copyright
This material includes SNOMED Clinical Terms® (SNOMED CT®) which is used by permission of the International Health Terminology Standards Development Organisation (IHTSDO) under license. All rights reserved. SNOMED CT® was originally created by The College of American Pathologists. "SNOMED" and "SNOMED CT" are registered trademarks of the IHTSDO.
This material includes content from the US Edition to SNOMED CT, which is developed and maintained by the U.S. National Library of Medicine and is available to authorized UMLS Metathesaurus Licensees from the UTS Downloads site at https://uts.nlm.nih.gov.
Use of SNOMED CT content is subject to the terms and conditions set forth in the SNOMED CT Affiliate License Agreement. It is the responsibility of those implementing this product to ensure they are appropriately licensed and for more information on the license, including how to register as an Affiliate Licensee, please refer to http://www.snomed.org/snomed-ct/get-snomed-ct or info@snomed.org<mailto:info@snomed.org>. This may incur a fee in SNOMED International non-Member countries.
73696-7 Oxygen saturation.preductal-oxygen saturation.postductal [Mass fraction difference] in Bld.preductal and Bld.postductal
Term Description
This term represents the quantitative difference between the preductal and postductal oxygen saturation measurements and is used in conjunction with the two measurements to determine the end result of the screening event, such as for critical congenital heart defects (CCHD) in newborns.
Source: Regenstrief LOINC
Part Descriptions
LP172627-4 Oxygen saturation.preductal-oxygen saturation.postductal
Oxygen saturation (sO2) is defined as the ratio of oxyhemoglobin to "active" hemoglobin (oxyhemoglobin + deoxyhemoglobin). Some say the term oxygen saturation has been erroneously redefined with a denominator of "total" instead of "active" hemoglobin, an ambiguity that can sometimes create confusion when viewing reported values from different instruments (Anesth Analg. 2007 Dec;105(6 Suppl):S5-9.) Oxygen saturation is commonly measured by blood gas analyzers and pulse oximetry.
Source: Regenstrief LOINC
Fully-Specified Name
- Component
- Oxygen saturation.preductal-oxygen saturation.postductal
- Property
- MFrDiff
- Time
- Pt
- System
- Bld.preductal+Bld.postductal
- Scale
- Qn
- Method
Additional Names
- Short Name
- SaO2%.pre-post MFrDiff Bld.pre+post
Basic Attributes
- Class
- CARDIO-PULM
- Type
- Clinical
- First Released
- Version 2.44
- Last Updated
- Version 2.73
- Order vs. Observation
- Observation
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-MX | Spanish (Mexico) | Saturación de oxígeno, saturación de oxígeno preductal, postductal: |
| it-IT | Italian (Italy) | Ossigeno, sensore di saturazione.preduttale-saturazione ossigeno.post duttale: Synonyms: Cardiopolmonare Differenza frazione di massa Gestione ventilazione polmonare Punto nel tempo (episodio) Sangue Sangue postduttale Sangue preduttale Sangue preduttale e Sangue postduttale |
| pt-BR | Portuguese (Brazil) | Saturação de oxigênio.pré ductal-saturação de oxigênio.pós ductal: |
| ru-RU | Russian (Russian Federation) | Кислород сатурация.до протока - кислород сатурация.после протока: Synonyms: Количественный Кровь Массовых фракций разность Насыщение кислородом Точка во времени; |
| zh-CN | Chinese (China) | 氧饱和度.导管前-氧饱和度.导管后: Synonyms: O2; |
Example Units
| Unit | Source |
|---|---|
| % | Example UCUM Units |
73806-2 Newborn age in hours
Term Description
Age of the newborn reported in hours.
Source: Regenstrief LOINC
Fully-Specified Name
- Component
- Newborn age in hours
- Property
- Time
- Time
- Pt
- System
- ^Patient
- Scale
- Qn
- Method
Additional Names
- Short Name
- Nwbrn age hours
Basic Attributes
- Class
- H&P.PX
- Type
- Clinical
- First Released
- Version 2.44
- Last Updated
- Version 2.52
- Order vs. Observation
- Observation
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
| 57794-0 | Newborn screening test results panel - DBS |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-MX | Spanish (Mexico) | Edad del recién nacido en horas: |
| it-IT | Italian (Italy) | Neonato, età in ore: Synonyms: Esame obbiettivo Età in ore del neonato paziente Punto nel tempo (episodio) Tempo (e.g. secondi) |
| ru-RU | Russian (Russian Federation) | Новорождённый возраст в часах: Synonyms: Время (в т.ч. в секундах) Количественный Точка во времени; |
| zh-CN | Chinese (China) | 按小时数计算的新生儿年龄: Synonyms: 体格检查小节与指标; |
Example Units
| Unit | Source |
|---|---|
| h | Example UCUM Units |
73699-1 Number of prior CCHD screens [#] Qualitative
Term Description
Most infants will have an in-range result on their initial critical congenital heart defects (CCHD) screen and will not need to be re-screened. However, if the first screen is inconclusive, the screen should be repeated per protocol, and the number of prior CCHD screens is important for interpreting the overall screening result. The number of previous screens is also important for documenting whether the screen is the initial screen or a repeat.
Source: Regenstrief LOINC
Fully-Specified Name
- Component
- Number of prior CCHD screens
- Property
- Num
- Time
- Pt
- System
- ^Patient
- Scale
- Ord
- Method
Additional Names
- Short Name
- Num CCHD screen Patient Ql
- Display Name
- Number of prior CCHD screens Ql
- Consumer Name Alpha Get Info
- Number of Prior CCHD Screens
Basic Attributes
- Class
- H&P.HX.LAB
- Type
- Laboratory
- First Released
- Version 2.44
- Last Updated
- Version 2.52
- Order vs. Observation
- Observation
Example Answer List LL2454-8
| Answer | Code | Score | Answer ID |
|---|---|---|---|
| 0 | LA6111-4 | ||
| 1 | LA6112-2 | ||
| 2 or more | LA6113-0 | ||
| 3 or more | LA19812-9 | ||
| Unknown Copyright http://snomed.info/sct ID:261665006 Unknown (qualifier value) | LA4489-6 |
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Número previo de cribados CCHD: |
| es-MX | Spanish (Mexico) | Número de pantallas de CCHD anteriores: |
| it-IT | Italian (Italy) | Numero di screening CCHD precedenti: Synonyms: Anamnesi Anamnesi pertinente a esami di laboratorio Numero (conta) Numero di screening per cardiopatia congenita crit paziente Punto nel tempo (episodio) |
| ru-RU | Russian (Russian Federation) | Количество предыдущих CCHD скринов: Synonyms: Количество Количество предыдущих Врождённых Пороков Сердца (CCHD) скринов Порядковый Точка во времени; |
| tr-TR | Turkish (Turkey) | Önceki CCHD tarama sayısı: |
| zh-CN | Chinese (China) | 既往 CCHD 筛查数量: Synonyms: 个数; |
Third Party Copyright
This material includes SNOMED Clinical Terms® (SNOMED CT®) which is used by permission of the International Health Terminology Standards Development Organisation (IHTSDO) under license. All rights reserved. SNOMED CT® was originally created by The College of American Pathologists. "SNOMED" and "SNOMED CT" are registered trademarks of the IHTSDO.
This material includes content from the US Edition to SNOMED CT, which is developed and maintained by the U.S. National Library of Medicine and is available to authorized UMLS Metathesaurus Licensees from the UTS Downloads site at https://uts.nlm.nih.gov.
Use of SNOMED CT content is subject to the terms and conditions set forth in the SNOMED CT Affiliate License Agreement. It is the responsibility of those implementing this product to ensure they are appropriately licensed and for more information on the license, including how to register as an Affiliate Licensee, please refer to http://www.snomed.org/snomed-ct/get-snomed-ct or info@snomed.org<mailto:info@snomed.org>. This may incur a fee in SNOMED International non-Member countries.
73804-7 Oxygen saturation sensor name
Term Description
The sensor name includes the brand and model of the specific sensor used for the screening event.
Source: Regenstrief LOINC
Fully-Specified Name
- Component
- Oxygen saturation sensor name
- Property
- ID
- Time
- Pt
- System
- Oxygen saturation device
- Scale
- Nom
- Method
Additional Names
- Short Name
- SaO2% Device SaO2% sensor name
Basic Attributes
- Class
- DEVICES
- Type
- Clinical
- First Released
- Version 2.44
- Last Updated
- Version 2.52
- Order vs. Observation
- Observation
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-MX | Spanish (Mexico) | Nombre del sensor de saturación de oxígeno: |
| it-IT | Italian (Italy) | Ossigeno, nome sensore di saturazione: Synonyms: Dispositivi medici Identificatore Punto nel tempo (episodio) Strumento di controllo della saturazione di ossige |
| ru-RU | Russian (Russian Federation) | Кислород сатурация датчик наименование: Synonyms: Идентификатор Насыщение кислородом Номинальный; |
| zh-CN | Chinese (China) | 氧饱和度传感器名称: Synonyms: O2; |
73803-9 Oxygen saturation sensor type
Term Description
The sensor type indicates whether the sensor is single-use (disposable) or reusable.
Source: Regenstrief LOINC
Fully-Specified Name
- Component
- Oxygen saturation sensor type
- Property
- Type
- Time
- Pt
- System
- Oxygen saturation device
- Scale
- Nom
- Method
Additional Names
- Short Name
- SaO2% Device SaO2% sensor type
Basic Attributes
- Class
- DEVICES
- Type
- Clinical
- First Released
- Version 2.44
- Last Updated
- Version 2.52
- Order vs. Observation
- Observation
Example Answer List LL2455-5
| Answer | Code | Score | Answer ID |
|---|---|---|---|
| Disposable | LA19810-3 | ||
| Reusable | LA19811-1 |
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-MX | Spanish (Mexico) | Tipo de sensor de saturación de oxígeno: |
| it-IT | Italian (Italy) | Ossigeno, tipo sensore di saturazione: Synonyms: Dispositivi medici Punto nel tempo (episodio) Strumento di controllo della saturazione di ossige |
| ru-RU | Russian (Russian Federation) | Кислород сатурация датчик тип: Synonyms: Насыщение кислородом Номинальный; |
| zh-CN | Chinese (China) | 氧饱和度传感器类型: Synonyms: O2; |
73802-1 Oxygen saturation sensor wrap name
Term Description
The sensor wrap name includes brand (and model) of the specific sensor wrap used for the screening event.
Source: Regenstrief LOINC
Fully-Specified Name
- Component
- Oxygen saturation sensor wrap name
- Property
- ID
- Time
- Pt
- System
- Oxygen saturation device
- Scale
- Nom
- Method
Additional Names
- Short Name
- SaO2% Device SaO2% sens wrap name
Basic Attributes
- Class
- DEVICES
- Type
- Clinical
- First Released
- Version 2.44
- Last Updated
- Version 2.52
- Order vs. Observation
- Observation
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-MX | Spanish (Mexico) | Nombre de la envoltura del sensor de saturación de oxígeno: |
| it-IT | Italian (Italy) | Ossigeno, sensore di saturazione, wrap, nome: Synonyms: Dispositivi medici Identificatore Punto nel tempo (episodio) Strumento di controllo della saturazione di ossige |
| ru-RU | Russian (Russian Federation) | Кислород сатурация датчик оболочка наименование: Synonyms: Идентификатор Насыщение кислородом Номинальный; |
| zh-CN | Chinese (China) | 氧饱和度传感器绑带名称: Synonyms: O2; |
73801-3 Oxygen saturation sensor wrap type
Term Description
The sensor wrap type indicates whether the wrap is made out of cloth, foam, or velcro.
Source: Regenstrief LOINC
Fully-Specified Name
- Component
- Oxygen saturation sensor wrap type
- Property
- Type
- Time
- Pt
- System
- Oxygen saturation device
- Scale
- Nom
- Method
Additional Names
- Short Name
- SaO2% Device SaO2% sensor wrp type
Basic Attributes
- Class
- DEVICES
- Type
- Clinical
- First Released
- Version 2.44
- Last Updated
- Version 2.52
- Order vs. Observation
- Observation
Normative Answer List LL2456-3
| Answer | Code | Score | Answer ID |
|---|---|---|---|
| Cloth | LA19813-7 | ||
| Foam | LA16576-3 | ||
| Velcro | LA19814-5 |
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-MX | Spanish (Mexico) | Tipo de envoltura del sensor de saturación de oxígeno: |
| it-IT | Italian (Italy) | Ossigeno, sensore di saturazione, wrap, tipo: Synonyms: Dispositivi medici Punto nel tempo (episodio) Strumento di controllo della saturazione di ossige |
| ru-RU | Russian (Russian Federation) | Кислород сатурация датчик оболочка тип: Synonyms: Насыщение кислородом Номинальный; |
| zh-CN | Chinese (China) | 氧饱和度传感器绑带类型: Synonyms: O2; |
73800-5 Oxygen saturation sensor wrap size
Term Description
The sensor wrap size indicates the size of the wrap. Examples include adult, pediatric, small, medium, large, or weight ranges.
Source: Regenstrief LOINC
Fully-Specified Name
- Component
- Oxygen saturation sensor wrap size
- Property
- Type
- Time
- Pt
- System
- Oxygen saturation device
- Scale
- Nom
- Method
Additional Names
- Short Name
- SaO2% Device SaO2% sensor wrap size
Basic Attributes
- Class
- DEVICES
- Type
- Clinical
- First Released
- Version 2.44
- Last Updated
- Version 2.52
- Order vs. Observation
- Observation
Example Answer List LL2457-1
| Answer | Code | Score | Answer ID |
|---|---|---|---|
| Adult | LA13524-6 | ||
| Pediatric | LA19834-3 | ||
| Small Copyright http://snomed.info/sct ID:255507004 Small (qualifier value) | LA8983-4 | ||
| Medium | LA8982-6 | ||
| Large Copyright http://snomed.info/sct ID:255509001 Large (qualifier value) | LA8981-8 |
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-MX | Spanish (Mexico) | Tamaño de la envoltura del sensor de saturación de oxígeno: |
| it-IT | Italian (Italy) | Ossigeno, sensore di saturazione, wrap, dimensione: Synonyms: Dispositivi medici Punto nel tempo (episodio) Strumento di controllo della saturazione di ossige |
| ru-RU | Russian (Russian Federation) | Кислород сатурация датчик оболочка размер: Synonyms: Насыщение кислородом Номинальный; |
| zh-CN | Chinese (China) | 氧饱和度传感器绑带尺寸: Synonyms: O2; |
Third Party Copyright
This material includes SNOMED Clinical Terms® (SNOMED CT®) which is used by permission of the International Health Terminology Standards Development Organisation (IHTSDO) under license. All rights reserved. SNOMED CT® was originally created by The College of American Pathologists. "SNOMED" and "SNOMED CT" are registered trademarks of the IHTSDO.
This material includes content from the US Edition to SNOMED CT, which is developed and maintained by the U.S. National Library of Medicine and is available to authorized UMLS Metathesaurus Licensees from the UTS Downloads site at https://uts.nlm.nih.gov.
Use of SNOMED CT content is subject to the terms and conditions set forth in the SNOMED CT Affiliate License Agreement. It is the responsibility of those implementing this product to ensure they are appropriately licensed and for more information on the license, including how to register as an Affiliate Licensee, please refer to http://www.snomed.org/snomed-ct/get-snomed-ct or info@snomed.org<mailto:info@snomed.org>. This may incur a fee in SNOMED International non-Member countries.
73697-5 CCHD newborn screening protocol used [Type]
Term Description
Critical congenital heart disease (CCHD) screening protocol defines the specific screening process used, including the specific steps and timing of oxygen saturation measurements and guidelines for interpreting the results based on the measurements and the difference in the measurements. Different screening protocols can vary in terms of saturation cutoffs for in-range versus out-of-range results as well as how the difference in preductal and postductal measurements is used. These differences may partly be based on the altitude at which screening is performed since the altitude impacts oxygen saturation measurements. The protocol description should be clear and allow any receiver to interpret the CCHD result based on the specific screening data.
Source: Regenstrief LOINC
Fully-Specified Name
- Component
- CCHD newborn screening protocol used
- Property
- Type
- Time
- Pt
- System
- ^Patient
- Scale
- Nar
- Method
Additional Names
- Short Name
- CCHD NBS used Patient
- Display Name
- CCHD NBS protocol used Nar
- Consumer Name Alpha Get Info
- CCHD NBS Protocol Used
Basic Attributes
- Class
- H&P.HX.LAB
- Type
- Laboratory
- First Released
- Version 2.44
- Last Updated
- Version 2.73
- Order vs. Observation
- Observation
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Protocolo de screening usado en recién nacidos CCHD: |
| es-MX | Spanish (Mexico) | Protocolo de cribado neonatal de CCHD utilizado: |
| it-IT | Italian (Italy) | CCHD neonato, screening, protocollo usato: Synonyms: Anamnesi Anamnesi pertinente a esami di laboratorio paziente Punto nel tempo (episodio) |
| ru-RU | Russian (Russian Federation) | CCHD новорождённого скрининг протокол использован: Synonyms: Описательный Точка во времени; |
| tr-TR | Turkish (Turkey) | CCHD yenidoğan tarama protokolü, kullanılan: Synonyms: Tür |
| zh-CN | Chinese (China) | 所采用的 CCHD 新生儿筛查方案: Synonyms: Asympt SCN 化验室 化验科 医疗服务对象; |
73698-3 Reason CCHD oxygen saturation screening not performed
Term Description
Virtually every infant born in the hospital in the United States should have critical congenital heart defects (CCHD) oxygen saturation screening. However, there are some cases in which screening was not appropriate or was not done for other reasons. This term is meant to capture the reason that screening was not performed in those rare instances that an infant did not get screened.
Source: Regenstrief LOINC
Fully-Specified Name
- Component
- Reason CCHD oxygen saturation screening not performed
- Property
- Find
- Time
- Pt
- System
- ^Patient
- Scale
- Nom
- Method
Additional Names
- Short Name
- CCHD SaO2 scrn not prfrmd
Basic Attributes
- Class
- H&P.PX
- Type
- Clinical
- First Released
- Version 2.44
- Last Updated
- Version 2.56
- Change Reason
- Changed answer list from "Normative" to "Preferred" to fit the current LOINC model.
- Order vs. Observation
- Observation
Preferred Answer List LL2458-9
| Answer | Code | Score | Answer ID |
|---|---|---|---|
| Prior prenatal diagnosis of CCHD | LA19819-4 | ||
| Prior postnatal diagnosis of CCHD | LA19820-2 | ||
| Early discharge | LA19821-0 | ||
| Transfer prior to screening | LA19822-8 | ||
| Infant in NICU | LA19823-6 | ||
| Medically unstable and inappropriate for screen | LA19824-4 | ||
| Receiving supplemental oxygen | LA19825-1 | ||
| Infant deceased | LA19826-9 | ||
| Parental refusal based on religious beliefs | LA19827-7 | ||
| Parental refusal for reasons other than religious beliefs | LA19828-5 | ||
| Equipment failure | LA7497-6 | ||
| Diagnostic testing begun in lieu of screening based on clinical suspicion for CCHD | LA20946-2 | ||
| Infant being monitored or treated for non-CCHD condition | LA20947-0 | ||
| Comfort care only | LA25798-2 | ||
| Echocardiography normal | LA25799-0 | ||
| Missed/not documented | LA25800-6 | ||
| Other, Please describe | LA46-8 |
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
| 57794-0 | Newborn screening test results panel - DBS |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-MX | Spanish (Mexico) | Razón por la que no se realizó el cribado de saturación de oxígeno de la CCHD: |
| it-IT | Italian (Italy) | Motivo per cui non è stato eseguito lo screening della saturazione di ossigeno per difetti cardiaci congeniti critici: Synonyms: Esame obbiettivo Osservazione paziente Punto nel tempo (episodio) |
| ru-RU | Russian (Russian Federation) | Причина CCHD кислорода сатурации скрининг не выполнен: Synonyms: Насыщение кислородом Номинальный; |
| zh-CN | Chinese (China) | 未进行 CCHD 氧饱和度筛查的原因: Synonyms: Asympt O2; |
59407-7 Oxygen saturation in Blood Preductal by Pulse oximetry
Part Descriptions
LP21258-6 Oxygen saturation
Oxygen saturation (sO2) is defined as the ratio of oxyhemoglobin to "active" hemoglobin (oxyhemoglobin + deoxyhemoglobin). Some say the term oxygen saturation has been erroneously redefined with a denominator of "total" instead of "active" hemoglobin, an ambiguity that can sometimes create confusion when viewing reported values from different instruments (Anesth Analg. 2007 Dec;105(6 Suppl):S5-9.) Oxygen saturation is commonly measured by blood gas analyzers and pulse oximetry.
Source: Regenstrief LOINC
Fully-Specified Name
- Component
- Oxygen saturation
- Property
- MFr
- Time
- Pt
- System
- Bld.preductal
- Scale
- Qn
- Method
- Pulse oximetry
Additional Names
- Short Name
- SaO2 % Bld Preductal PulseOx
Basic Attributes
- Class
- PULM
- Type
- Clinical
- First Released
- Version 2.32
- Last Updated
- Version 2.73
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Member of these Groups Get Info
| LOINC Group | Group Name |
|---|---|
| LG33051-0 | Oxygen saturation| |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-MX | Spanish (Mexico) | Saturación de oxígeno: |
| fr-CA | French (Canada) | Saturation en oxygène: |
| fr-BE | French (Belgium) | Saturation en oxygène: Synonyms: O2 SatO2 |
| it-IT | Italian (Italy) | Saturazione dell'ossigeno: Synonyms: Frazione di massa Gestione ventilazione polmonare Punto nel tempo (episodio) Sangue Sangue preduttale |
| pt-BR | Portuguese (Brazil) | Saturação de Oxigênio: |
| ru-RU | Russian (Russian Federation) | Кислородом сатурация: Synonyms: Количественный Кровь Массовая доля Насыщение кислородом Оксигемометрия; |
| zh-CN | Chinese (China) | 氧饱和度: Synonyms: MFr O2; |
Example Units
| Unit | Source |
|---|---|
| % | Example UCUM Units |
73799-9 Heart rate Blood Preductal Pulse oximetry
Term Description
Infant's heart rate as measured by the pulse oximeter during preductal oxygen saturation measurement. Preductal measurement indicates that the measurements are taken using a pulse oximetry device placed in an anatomical location whose blood supply originates from the aorta before the junction of the aorta with the ductus arteriosus (usually the right hand).
Source: Regenstrief LOINC
Fully-Specified Name
- Component
- Heart rate
- Property
- NRat
- Time
- Pt
- System
- Bld.preductal
- Scale
- Qn
- Method
- Pulse oximetry
Additional Names
- Short Name
- Heart rate Bld Preductal PulseOx
- Consumer Name Alpha Get Info
- Heart Rate, Preductal
Basic Attributes
- Class
- CARDIO-PULM
- Type
- Clinical
- First Released
- Version 2.44
- Last Updated
- Version 2.52
- Order vs. Observation
- Observation
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Member of these Groups Get Info
| LOINC Group | Group Name |
|---|---|
| LG33055-1 | Heart rate| |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-MX | Spanish (Mexico) | Ritmo cardiaco: |
| it-IT | Italian (Italy) | Frequenza cardiaca: Synonyms: Cardiopolmonare Gestione ventilazione polmonare Indice numerico Punto nel tempo (episodio) Sangue Sangue preduttale |
| ru-RU | Russian (Russian Federation) | Частота сердечных сокращений: Synonyms: Количественный Количество скорость Кровь Оксигемометрия; |
| zh-CN | Chinese (China) | 心率: Synonyms: 全血.导管之前; |
Example Units
| Unit | Source |
|---|---|
| /min | Example UCUM Units |
73798-1 Perfusion index Blood Preductal Pulse oximetry
Term Description
The perfusion index measures the strength of the pulse and is the ratio of the pulsatile and nonpulsatile components of the pulse oximetry signal. Preductal measurement indicates that the measurements are taken using a pulse oximetry device placed in an anatomical location whose blood supply originates from the aorta before the junction of the aorta with the ductus arteriorsus (usually the right hand).
Source: Regenstrief LOINC
Fully-Specified Name
- Component
- Perfusion index
- Property
- Ratio
- Time
- Pt
- System
- Bld.preductal
- Scale
- Qn
- Method
- Pulse oximetry
Additional Names
- Short Name
- Perfusion index Bld Preductal PulseOx
Basic Attributes
- Class
- CARDIO-PULM
- Type
- Clinical
- First Released
- Version 2.44
- Last Updated
- Version 2.52
- Order vs. Observation
- Observation
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-MX | Spanish (Mexico) | Índice de perfusión: |
| it-IT | Italian (Italy) | Espansione, indice: Synonyms: Cardiopolmonare Gestione ventilazione polmonare Indice di espansione Punto nel tempo (episodio) Sangue Sangue preduttale |
| ru-RU | Russian (Russian Federation) | Перфузионный индекс: Synonyms: Количественный Коэффициент; |
| zh-CN | Chinese (China) | 灌注指数: Synonyms: PF 全血.导管之前; |
Example Units
| Unit | Source |
|---|---|
| % | Example UCUM Units |
73797-3 Signal quality Blood Preductal Pulse oximetry
Term Description
The signal quality indicates the strength or reliability of the measurement at a point in time. Preductal signal quality indicates that the pulse oximetry device is placed in an anatomical location whose blood supply originates from the aorta before the junction of the aorta with the ductus arteriosus (usually the right hand).
Source: Regenstrief LOINC
Fully-Specified Name
- Component
- Signal quality
- Property
- Find
- Time
- Pt
- System
- Bld.preductal
- Scale
- Ord
- Method
- Pulse oximetry
Additional Names
- Short Name
- Signal quality Bld Preductal PulseOx
Basic Attributes
- Class
- CARDIO-PULM
- Type
- Clinical
- First Released
- Version 2.44
- Last Updated
- Version 2.52
- Order vs. Observation
- Observation
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-MX | Spanish (Mexico) | Calidad de la señal: |
| it-IT | Italian (Italy) | Segnale, qualità: Synonyms: Cardiopolmonare Gestione ventilazione polmonare Osservazione Punto nel tempo (episodio) Qualità del segnale Sangue Sangue preduttale |
| ru-RU | Russian (Russian Federation) | Сигнала качество: Synonyms: Кровь Оксигемометрия; |
| zh-CN | Chinese (China) | 信号质量: Synonyms: 依次型; |
73796-5 Infant activity during preductal oxygen saturation measurement
Term Description
Infant activity during preductal oxygen saturation measurement describes how active the infant was during the measurement. If an infant is crying or in a deep sleep, the oxygen saturation measurement may not be accurate; therefore, knowing the infant's state is important for interpreting the saturation result.
Source: Regenstrief LOINC
Fully-Specified Name
- Component
- Infant activity during preductal oxygen saturation measurement
- Property
- Find
- Time
- Pt
- System
- ^Patient
- Scale
- Nom
- Method
Additional Names
- Short Name
- Infant active preductal Patient
- Display Name
- Infant activity during preductal oxygen saturation measurement Nom
- Consumer Name Alpha Get Info
- Infant activity during preductal oxygen saturation measurement
Basic Attributes
- Class
- H&P.HX.LAB
- Type
- Laboratory
- First Released
- Version 2.44
- Last Updated
- Version 2.52
- Order vs. Observation
- Observation
Example Answer List LL2459-7
| Answer | Code | Score | Answer ID |
|---|---|---|---|
| Sleeping | LA11864-8 | ||
| Awake and quiet | LA19830-1 | ||
| Awake and crying | LA19831-9 | ||
| Feeding | LA19832-7 |
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Actividad infantil durante la medición preductal de saturación de oxígeno: |
| es-MX | Spanish (Mexico) | Actividad infantil durante la medición de la saturación de oxígeno preductal: |
| it-IT | Italian (Italy) | Attivittà infantile durante misurazione pre-duttale di saturazione di ossige: Synonyms: Anamnesi Anamnesi pertinente a esami di laboratorio Osservazione paziente Punto nel tempo (episodio) |
| ru-RU | Russian (Russian Federation) | Ребёнка активность в течение до протока кислорода сатурации измерения: Synonyms: Насыщение кислородом Номинальный; |
| tr-TR | Turkish (Turkey) | Infant activity during preductal oxygen saturation measurement: Synonyms: Oksijen doymuşluğu |
| zh-CN | Chinese (China) | 在导管前氧饱和度测定过程中的婴儿活动: Synonyms: O2; |
59418-4 Oxygen saturation in Blood Postductal by Pulse oximetry
Part Descriptions
LP21258-6 Oxygen saturation
Oxygen saturation (sO2) is defined as the ratio of oxyhemoglobin to "active" hemoglobin (oxyhemoglobin + deoxyhemoglobin). Some say the term oxygen saturation has been erroneously redefined with a denominator of "total" instead of "active" hemoglobin, an ambiguity that can sometimes create confusion when viewing reported values from different instruments (Anesth Analg. 2007 Dec;105(6 Suppl):S5-9.) Oxygen saturation is commonly measured by blood gas analyzers and pulse oximetry.
Source: Regenstrief LOINC
Fully-Specified Name
- Component
- Oxygen saturation
- Property
- MFr
- Time
- Pt
- System
- Bld.postductal
- Scale
- Qn
- Method
- Pulse oximetry
Additional Names
- Short Name
- SaO2 % Bld Postductal PulseOx
Basic Attributes
- Class
- PULM
- Type
- Clinical
- First Released
- Version 2.32
- Last Updated
- Version 2.73
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Member of these Groups Get Info
| LOINC Group | Group Name |
|---|---|
| LG33051-0 | Oxygen saturation| |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-MX | Spanish (Mexico) | Saturación de oxígeno: |
| it-IT | Italian (Italy) | Saturazione dell'ossigeno: Synonyms: Frazione di massa Gestione ventilazione polmonare Punto nel tempo (episodio) Sangue Sangue postduttale |
| pt-BR | Portuguese (Brazil) | Saturação de Oxigênio: |
| ru-RU | Russian (Russian Federation) | Кислородом сатурация: Synonyms: Количественный Кровь Массовая доля Насыщение кислородом Оксигемометрия; |
| zh-CN | Chinese (China) | 氧饱和度: Synonyms: MFr O2; |
Example Units
| Unit | Source |
|---|---|
| % | Example UCUM Units |
73795-7 Heart rate Blood Postductal Pulse oximetry
Term Description
Infant's heart rate as measured by the pulse oximeter during postductal oxygen saturation measurement. Postductal measurement indicates that the measurements are taken using a pulse oximetry device placed in an anatomical location whose blood supply originates from the aorta after the junction of the aorta with the ductus arteriosus (usually either the right or left foot).
Source: Regenstrief LOINC
Fully-Specified Name
- Component
- Heart rate
- Property
- NRat
- Time
- Pt
- System
- Bld.postductal
- Scale
- Qn
- Method
- Pulse oximetry
Additional Names
- Short Name
- Heart rate Bld Postductal PulseOx
- Consumer Name Alpha Get Info
- Heart Rate, Postductal
Basic Attributes
- Class
- CARDIO-PULM
- Type
- Clinical
- First Released
- Version 2.44
- Last Updated
- Version 2.52
- Order vs. Observation
- Observation
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Member of these Groups Get Info
| LOINC Group | Group Name |
|---|---|
| LG33055-1 | Heart rate| |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-MX | Spanish (Mexico) | Ritmo cardiaco: |
| it-IT | Italian (Italy) | Frequenza cardiaca: Synonyms: Cardiopolmonare Gestione ventilazione polmonare Indice numerico Punto nel tempo (episodio) Sangue Sangue postduttale |
| ru-RU | Russian (Russian Federation) | Частота сердечных сокращений: Synonyms: Количественный Количество скорость Кровь Оксигемометрия; |
| zh-CN | Chinese (China) | 心率: Synonyms: 全血.导管之后; |
Example Units
| Unit | Source |
|---|---|
| /min | Example UCUM Units |
73794-0 Perfusion index Blood Postductal Pulse oximetry
Term Description
The perfusion index measures the strength of the pulse at a sensor site and is the ratio of the pulsatile and nonpulsatile components of the pulse oximetry signal. Postductal measurement indicates that the measurements are taken using a pulse oximetry device placed in an anatomical location whose blood supply originates from the aorta after the junction of the aorta with the ductus arteriorsus (usually either the right or left foot).
Source: Regenstrief LOINC
Fully-Specified Name
- Component
- Perfusion index
- Property
- Ratio
- Time
- Pt
- System
- Bld.postductal
- Scale
- Qn
- Method
- Pulse oximetry
Additional Names
- Short Name
- Perfusion index Bld Postductal PulseOx
Basic Attributes
- Class
- CARDIO-PULM
- Type
- Clinical
- First Released
- Version 2.44
- Last Updated
- Version 2.52
- Order vs. Observation
- Observation
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-MX | Spanish (Mexico) | Índice de perfusión: |
| it-IT | Italian (Italy) | Espansione, indice: Synonyms: Cardiopolmonare Gestione ventilazione polmonare Indice di espansione Punto nel tempo (episodio) Sangue Sangue postduttale |
| ru-RU | Russian (Russian Federation) | Перфузионный индекс: Synonyms: Количественный Коэффициент; |
| zh-CN | Chinese (China) | 灌注指数: Synonyms: PF 全血.导管之后; |
Example Units
| Unit | Source |
|---|---|
| % | Example UCUM Units |
73793-2 Signal quality Blood Postductal Pulse oximetry
Term Description
The signal quality indicates the strength or reliability of the measurement at a point in time. Postductal signal quality indicates that the pulse oximetry device is placed in an anatomical location whose blood supply originates from the aorta after the junction of the aorta with the ductus arteriosus (usually the right hand).
Source: Regenstrief LOINC
Fully-Specified Name
- Component
- Signal quality
- Property
- Find
- Time
- Pt
- System
- Bld.postductal
- Scale
- Ord
- Method
- Pulse oximetry
Additional Names
- Short Name
- Signal quality Bld Postductal PulseOx
Basic Attributes
- Class
- CARDIO-PULM
- Type
- Clinical
- First Released
- Version 2.44
- Last Updated
- Version 2.52
- Order vs. Observation
- Observation
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-MX | Spanish (Mexico) | Calidad de la señal: |
| it-IT | Italian (Italy) | Segnale, qualità: Synonyms: Cardiopolmonare Gestione ventilazione polmonare Osservazione Punto nel tempo (episodio) Qualità del segnale Sangue Sangue postduttale |
| ru-RU | Russian (Russian Federation) | Сигнала качество: Synonyms: Кровь Оксигемометрия; |
| zh-CN | Chinese (China) | 信号质量: Synonyms: 依次型; |
73792-4 Infant activity during postductal oxygen saturation measurement
Term Description
Infant activity during postductal oxygen saturation measurement describes how active the infant was during the measurement. If an infant is crying or in a deep sleep, the oxygen saturation measurement may not be accurate; therefore, knowing the infant's state is important for interpreting the oxygen saturation result.
Source: Regenstrief LOINC
Fully-Specified Name
- Component
- Infant activity during postductal oxygen saturation measurement
- Property
- Find
- Time
- Pt
- System
- ^Patient
- Scale
- Nom
- Method
Additional Names
- Short Name
- Infant active postductal Patient
- Display Name
- Infant activity during postductal oxygen saturation measurement Nom
- Consumer Name Alpha Get Info
- Infant activity during postductal oxygen saturation measurement
Basic Attributes
- Class
- H&P.HX.LAB
- Type
- Laboratory
- First Released
- Version 2.44
- Last Updated
- Version 2.52
- Order vs. Observation
- Observation
Example Answer List LL2459-7
| Answer | Code | Score | Answer ID |
|---|---|---|---|
| Sleeping | LA11864-8 | ||
| Awake and quiet | LA19830-1 | ||
| Awake and crying | LA19831-9 | ||
| Feeding | LA19832-7 |
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Actividad infantil durante la medición postductal de saturación de oxígeno: |
| es-MX | Spanish (Mexico) | Actividad infantil durante la medición de la saturación de oxígeno posductal: |
| it-IT | Italian (Italy) | Attivittà infantile durante misurazione post-duttale di saturazione di ossigeno: Synonyms: Anamnesi Anamnesi pertinente a esami di laboratorio Osservazione paziente Punto nel tempo (episodio) |
| ru-RU | Russian (Russian Federation) | Ребёнка активность в течение после протока кислорода сатурации измерения: Synonyms: Насыщение кислородом Номинальный; |
| tr-TR | Turkish (Turkey) | Infant aktivitei, postduktal oksijen doygunluğu ölçümü sırasında: Synonyms: Oksijen doymuşluğu |
| zh-CN | Chinese (China) | 在导管后氧饱和度测定过程中的婴儿活动: Synonyms: O2; |
57794-0 Newborn screening test results panel - Dried blood spot
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Newborn screening test results panel
- Property
- -
- Time
- Pt
- System
- Bld.dot
- Scale
- -
- Method
Additional Names
- Short Name
- NBS test results pnl DBS
- Display Name
- NBS test results panel (DBS)
- Consumer Name Alpha Get Info
- NBS test results panel, Dried blood spot
Basic Attributes
- Class
- PANEL.CHEM
- Type
- Laboratory
- First Released
- Version 2.29
- Last Updated
- Version 2.67
- Order vs. Observation
- Order
- Panel Type
- Organizer
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Panel de resultados de tests de cribado del recién nacido: |
| es-MX | Spanish (Mexico) | Panel de resultados de la prueba de detección del recién nacido: |
| fr-FR | French (France) | Dépistage néonatal - Résultats des tests panel: |
| it-IT | Italian (Italy) | Screening neonatale, panel risultati test: Synonyms: Chimica Panel risultati test di screening neonatale Punto nel tempo (episodio) Sangue Set di prescrizione chimica Spot sangue secco |
| nl-NL | Dutch (Netherlands) | pasgeborene screening testresultaten panel: |
| pt-BR | Portuguese (Brazil) | Triagem neonatal teste do painel Resultados: Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Новорождённый скрининг тест результаты панель: Synonyms: Кровь Кровь сухая капля Точка во времени; |
| zh-CN | Chinese (China) | 新生儿筛查试验结果组套: Synonyms: Asympt SCN 全血斑点(滤纸); |
53261-4 Amino acid newborn screen panel
Term Description
Newborn screening dried blood spot analysis by tandem mass spectrometry (MS/MS) requires pre-processing the specimen with one of two alternative reagent methods referred to as derivatized and non-derivatized (or underivatized) methods. The methods are similar and nearly all analytes and ratios are identical with the limited number of exceptions noted in the description of the LOINC codes. Some labs choose to use the non-derivatized method because it may be faster or less expensive for their operations. There are no analytes which would be interpreted differently based on the method used to process the specimen so there is no need for different LOINC codes for the same compounds based on the reagents. In a few cases, a different LOINC code is used for the derivatized or non-derivatized tandem mass spectrometry (MS/MS) method because based on the reagents used in processing, different analytes are measured or different sets of analytes become isobaric, which means that they cannot be distinguished on the MS/MS because they have the same molecular weight after reagent processing.
Source: Regenstrief LOINC
Observation Required in Panel
Conditional
Type of Entry
Question expects user entry - requires response [Q]
Fully-Specified Name
- Component
- Amino acid newborn screen panel
- Property
- SCnc
- Time
- Pt
- System
- Bld.dot
- Scale
- -
- Method
Additional Names
- Short Name
- AA NB scn Pnl DBS-sCnc
- Display Name
- Amino acid NBS panel (DBS) [Moles/Vol]
- Consumer Name Alpha Get Info
- Amino Acid NBS Panel, Dried blood spot
Basic Attributes
- Class
- PANEL.CHEM
- Type
- Laboratory
- First Released
- Version 2.24
- Last Updated
- Version 2.77
- Order vs. Observation
- Order
- Common Test Rank Get Info
- 16129
- Panel Type
- Panel
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Panel de cribado neonatal de aminoácidos: |
| es-MX | Spanish (Mexico) | Panel de pantalla de aminoácidos para recién nacidos: |
| fr-FR | French (France) | Acides aminés dépistage néonatal panel: |
| fr-BE | French (Belgium) | Profil screening nouveau-né pour amino-acides: |
| it-IT | Italian (Italy) | Aminoacido, panel screening neonatale: Synonyms: Chimica Concentrazione di Sostanza Panel screening neonatale aminoacidi Punto nel tempo (episodio) Sangue Set di prescrizione chimica Spot sangue secco |
| nl-NL | Dutch (Netherlands) | aminozuur pasgeborene screeningpanel: |
| pt-BR | Portuguese (Brazil) | Triagem de Aminoácido neonatal painel: Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Амино кислоты новорождённый скрин панель: Synonyms: Аминокислоты новорождённый скрин панель Кровь Кровь сухая капля Молярность; |
| zh-CN | Chinese (China) | 氨基酸新生儿筛查组套: Synonyms: 克分子浓度; |
46733-2 Amino acidemias newborn screen interpretation
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Amino acidemias
- Property
- Imp
- Time
- Pt
- System
- Bld.dot
- Scale
- Nom
- Method
Additional Names
- Short Name
- Amino acidemias DBS-Imp
- Display Name
- Amino acidemias (DBS) [Interp]
- Consumer Name Alpha Get Info
- Amino acidemias, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.19
- Last Updated
- Version 2.73
- Change Reason
- Changed answer list from "Normative" to "Preferred" to fit the current LOINC model.
- Order vs. Observation
- Observation
- Common Test Rank Get Info
- 1377
Preferred Answer List LL840-0
| Answer | Code | Score | Answer ID |
|---|---|---|---|
| In range | LA18592-8 | ||
| Borderline | LA4259-3 | ||
| Indeterminate Copyright http://snomed.info/sct ID:82334004 Indeterminate (qualifier value) | LA11884-6 | ||
| Out of range | LA18593-6 | ||
| Out of range requiring further dried blood spot testing for at least one condition | LA12430-7 | ||
| Out of range requiring immediate referral | LA25817-0 | ||
| Out of range requiring immediate second-tier testing for at least one condition | LA12431-5 | ||
| Out of range requiring deferred follow-up for at least one condition | LA18594-4 | ||
| One or more tests pending | LA16204-2 | ||
| Specimen unsatisfactory for at least one condition | LA16205-9 |
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 53261-4 | Amino acid newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Aminoacidemias: |
| es-MX | Spanish (Mexico) | Amino acidemias: |
| fr-CA | French (Canada) | Aminoacidémies: |
| fr-FR | French (France) | Aminoacidémie: |
| fr-BE | French (Belgium) | Aminoacidémies: |
| it-IT | Italian (Italy) | Aminoacidemie: Synonyms: Chimica Impressione/interpretazione di studio Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | aminozuuracidemie: |
| pt-BR | Portuguese (Brazil) | Aminoacidemias: Synonyms: AA; |
| ru-RU | Russian (Russian Federation) | Аминоацидемия: Synonyms: Впечатление/интерпретация исследования Кровь Кровь сухая капля Номинальный; |
| tr-TR | Turkish (Turkey) | Amino asidemiler: |
| zh-CN | Chinese (China) | 氨基酸血症: Synonyms: AA; |
Third Party Copyright
This material includes SNOMED Clinical Terms® (SNOMED CT®) which is used by permission of the International Health Terminology Standards Development Organisation (IHTSDO) under license. All rights reserved. SNOMED CT® was originally created by The College of American Pathologists. "SNOMED" and "SNOMED CT" are registered trademarks of the IHTSDO.
This material includes content from the US Edition to SNOMED CT, which is developed and maintained by the U.S. National Library of Medicine and is available to authorized UMLS Metathesaurus Licensees from the UTS Downloads site at https://uts.nlm.nih.gov.
Use of SNOMED CT content is subject to the terms and conditions set forth in the SNOMED CT Affiliate License Agreement. It is the responsibility of those implementing this product to ensure they are appropriately licensed and for more information on the license, including how to register as an Affiliate Licensee, please refer to http://www.snomed.org/snomed-ct/get-snomed-ct or info@snomed.org<mailto:info@snomed.org>. This may incur a fee in SNOMED International non-Member countries.
57710-6 Amino acidemias newborn screening comment-discussion
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Amino acidemias newborn screening comment-discussion
- Property
- Txt
- Time
- Pt
- System
- Bld.dot
- Scale
- Nar
- Method
Additional Names
- Short Name
- Amino acidemias NBS comment
- Display Name
- Amino acidemias newborn screening comment-discussion Nar (DBS)
- Consumer Name Alpha Get Info
- Amino acidemias newborn screening comment-discussion, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.29
- Last Updated
- Version 2.73
- Order vs. Observation
- Observation
- Common Test Rank Get Info
- 16991
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 53261-4 | Amino acid newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Aminoacidemias screnning de recién nacidos comentario-discusión: |
| es-MX | Spanish (Mexico) | Amino acidemias revisión de recién nacidos comentario-discusión: |
| fr-FR | French (France) | Aminoacidémie dépistage néonatal (commentaire/discussion): |
| fr-BE | French (Belgium) | Aminoacidémies Commentaires.screening néonatal.discussion: |
| it-IT | Italian (Italy) | Aminoacidemie, screening neonatale, commenti-discussione: Synonyms: Chimica Commento/discussione di screening neonatale per aminoacidemie Punto nel tempo (episodio) Sangue Spot sangue secco Testo |
| nl-NL | Dutch (Netherlands) | aminozuuracidemie screening van pasgeborene commentaar-discussie: |
| pt-BR | Portuguese (Brazil) | Aminoacidemias na triagem neonatal comentários-discussão: Synonyms: Remarks; |
| ru-RU | Russian (Russian Federation) | Аминоацидемия новорожденный скрининг комментарий-дискуссия: Synonyms: Кровь Кровь сухая капля Описательный Текст Точка во времени; |
| tr-TR | Turkish (Turkey) | Amino asidemiler yenidoğan tarama öneri-tartışma: |
| zh-CN | Chinese (China) | 氨基酸血症 新生儿筛查注释-讨论: Synonyms: AA; |
57793-2 Amino acidemia disorder suspected [Identifier] in DBS
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Amino acidemia disorder suspected
- Property
- Prid
- Time
- Pt
- System
- Bld.dot
- Scale
- Nom
- Method
Additional Names
- Short Name
- Amino acidemia disorder suspected DBS
- Display Name
- Amino acidemia disorder suspected Nom (DBS)
- Consumer Name Alpha Get Info
- Amino acidemia disorder suspected, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.29
- Last Updated
- Version 2.73
- Change Reason
- Changed answer list from "Normative" to "Preferred" to fit the current LOINC model.
- Order vs. Observation
- Observation
- Common Test Rank Get Info
- 2318
Preferred Answer List LL837-6
| Answer | Code | Score | Answer ID |
|---|---|---|---|
| None Copyright http://snomed.info/sct ID:260413007 None (qualifier value) | LA137-2 | ||
| CIT-I or CIT-II or ASA | LA12569-2 | ||
| HCY or MET or CBL C | LA12570-0 | ||
| PKU or BIPT-BS or BIOPT-REG or H-PHE | LA12571-8 | ||
| TYR-1 or TYR-II or TYR-III | LA12572-6 | ||
| Maple syrup urine disease Copyright http://snomed.info/sct ID:27718001 Maple syrup urine disease (disorder) | LA21168-2 | ||
| Argininemia | LA21161-7 | ||
| Argininosuccinic aciduria | LA21162-5 | ||
| Carbamoyl-phosphate synthase deficiency Copyright http://snomed.info/sct ID:62522004 Congenital hyperammonemia, type I (disorder) | LA12484-4 | ||
| Citrullinemia, type I Copyright http://snomed.info/sct ID:398680004 Citrullinemia (disorder) | LA12482-8 | ||
| Citrullinemia, type II Copyright http://snomed.info/sct ID:716863007 Citrullinemia type II (disorder) | LA12483-6 | ||
| Dihydrolipoamide dehydrogenase deficiency Copyright http://snomed.info/sct ID:29914000 Dihydrolipoamide dehydrogenase deficiency (disorder) | LA12490-1 | ||
| Biopterin defect in cofactor biosynthesis Copyright http://snomed.info/sct ID:237914002 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency (disorder) | LA12472-9 | ||
| Biopterin defect in cofactor regeneration Copyright http://snomed.info/sct ID:58256000 Dihydropteridine reductase deficiency (disorder) | LA12473-7 | ||
| Girate atrophy of the retina Copyright http://snomed.info/sct ID:314467007 Gyrate atrophy (disorder) | LA12502-3 | ||
| Hypermethioninemia Copyright http://snomed.info/sct ID:43123004 Hypermethioninemia (disorder) | LA12512-2 | ||
| Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome Copyright http://snomed.info/sct ID:30287008 Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome (disorder) | LA12497-6 | ||
| Hyperphenylalaninemia (variant, benign) Copyright http://snomed.info/sct ID:68528007 Hyperphenylalaninemia (disorder) | LA12500-7 | ||
| Hyperprolinemia type I Copyright http://snomed.info/sct ID:61071003 Proline dehydrogenase deficiency (disorder) | LA12521-3 | ||
| Hyperprolinemia type II Copyright http://snomed.info/sct ID:717181004 Hyperprolinemia type 2 (disorder) | LA12522-1 | ||
| Cobalamin E disease Copyright http://snomed.info/sct ID:360373000 Homocystinuria vitamin B12-responsive type III (disorder) | LA12480-2 | ||
| Guanidinoacetate N-methyltransferase deficiency Copyright http://snomed.info/sct ID:124239003 Deficiency of guanidinoacetate methyltransferase (disorder) | LA30113-7 | ||
| L-arginine:glycine amidinotransferase deficiency Copyright http://snomed.info/sct ID:702440000 Cerebral creatine deficiency syndrome 3 (disorder) | LA30114-5 | ||
| Methylene tetrahydrofolate reductase deficiency Copyright http://snomed.info/sct ID:41797007 5,10-Methylenetetrahydrofolate reductase deficiency (disorder) | LA12514-8 | ||
| Nonketotic hyperglycinemia (glycine encephalopathy) Copyright http://snomed.info/sct ID:237939006 Non-ketotic hyperglycinemia (disorder) | LA12516-3 | ||
| Ornithine transcarbamylase deficiency Copyright http://snomed.info/sct ID:80908008 Ornithine carbamoyltransferase deficiency (disorder) | LA12518-9 | ||
| Classic phenylketonuria Copyright http://snomed.info/sct ID:7573000 Classical phenylketonuria (disorder) | LA12520-5 | ||
| Pyroglutamic acidemia Copyright http://snomed.info/sct ID:39112005 Glutathione synthase deficiency with 5-oxoprolinuria (disorder) | LA12469-5 | ||
| Pyruvate carboxylase deficiency Copyright http://snomed.info/sct ID:87694001 Pyruvate carboxylase deficiency (disorder) | LA12519-7 | ||
| Tyrosinemia, type I Copyright http://snomed.info/sct ID:410056006 Tyrosinemia type I (disorder) | LA12528-8 | ||
| Tyrosinemia, type II Copyright http://snomed.info/sct ID:4887000 Hypertyrosinemia, Richner-Hanhart type (disorder) | LA12529-6 | ||
| Tyrosinemia, type III Copyright http://snomed.info/sct ID:415764005 Tyrosinemia type III (disorder) | LA12530-4 | ||
| Valinemia Copyright http://snomed.info/sct ID:47719001 Hypervalinemia (disorder) | LA12503-1 | ||
| X-linked creatine transporter (CRTR) deficiency Copyright http://snomed.info/sct ID:698290008 X-linked creatine deficiency (disorder) | LA30492-5 |
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 53261-4 | Amino acid newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Sospecha de desorden de aminoacidemia: |
| es-MX | Spanish (Mexico) | Sospecha de trastorno por aminoacidemia: |
| fr-FR | French (France) | Aminoacidémie désordre suspecté: |
| fr-BE | French (Belgium) | Maladie des Amino-acides suspectée: |
| it-IT | Italian (Italy) | Aminoacidemia, sospetto disturbo: Synonyms: Chimica Presenza o Identità Punto nel tempo (episodio) Sangue Sospetto disturbo di aminoacidemia Spot sangue secco |
| nl-NL | Dutch (Netherlands) | aminozuuracidemiestoornis verdenking: |
| pt-BR | Portuguese (Brazil) | Suspeita de desordem de amino acidemia: Synonyms: Identity or presence; |
| ru-RU | Russian (Russian Federation) | Амино ацидемия расстройство заподозрено: Synonyms: Заподозрено аминоацидурическое расстройство Кровь Кровь сухая капля Номинальный; |
| tr-TR | Turkish (Turkey) | Amino asidemi bozukluğu şüphelenilen: |
| zh-CN | Chinese (China) | 疑似氨基酸血症: Synonyms: 全血斑点(滤纸); |
Third Party Copyright
This material includes SNOMED Clinical Terms® (SNOMED CT®) which is used by permission of the International Health Terminology Standards Development Organisation (IHTSDO) under license. All rights reserved. SNOMED CT® was originally created by The College of American Pathologists. "SNOMED" and "SNOMED CT" are registered trademarks of the IHTSDO.
This material includes content from the US Edition to SNOMED CT, which is developed and maintained by the U.S. National Library of Medicine and is available to authorized UMLS Metathesaurus Licensees from the UTS Downloads site at https://uts.nlm.nih.gov.
Use of SNOMED CT content is subject to the terms and conditions set forth in the SNOMED CT Affiliate License Agreement. It is the responsibility of those implementing this product to ensure they are appropriately licensed and for more information on the license, including how to register as an Affiliate Licensee, please refer to http://www.snomed.org/snomed-ct/get-snomed-ct or info@snomed.org<mailto:info@snomed.org>. This may incur a fee in SNOMED International non-Member countries.
46746-4 Phenylketonuria and variants/Biopterin defects newborn screen interpretation
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Phenylketonuria and variants &or biopterin defects
- Property
- Imp
- Time
- Pt
- System
- Bld.dot
- Scale
- Nom
- Method
Additional Names
- Short Name
- PKU+Var/BIOPT Defects DBS-Imp
- Display Name
- Phenylketonuria and variants/Biopterin defects (DBS) [Interp]
- Consumer Name Alpha Get Info
- Phenylketonuria and Variants/Biopterin defects, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.19
- Last Updated
- Version 2.73
- Change Reason
- Changed answer list from "Normative" to "Preferred" to fit the current LOINC model.
- Order vs. Observation
- Both
- Common Test Rank Get Info
- 19766
Preferred Answer List LL840-0
| Answer | Code | Score | Answer ID |
|---|---|---|---|
| In range | LA18592-8 | ||
| Borderline | LA4259-3 | ||
| Indeterminate Copyright http://snomed.info/sct ID:82334004 Indeterminate (qualifier value) | LA11884-6 | ||
| Out of range | LA18593-6 | ||
| Out of range requiring further dried blood spot testing for at least one condition | LA12430-7 | ||
| Out of range requiring immediate referral | LA25817-0 | ||
| Out of range requiring immediate second-tier testing for at least one condition | LA12431-5 | ||
| Out of range requiring deferred follow-up for at least one condition | LA18594-4 | ||
| One or more tests pending | LA16204-2 | ||
| Specimen unsatisfactory for at least one condition | LA16205-9 |
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 53261-4 | Amino acid newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Fenilcetonuria y variantes/defectos de biopterina: |
| es-MX | Spanish (Mexico) | Fenilcetonuria y variantes o defectos de biopterina: |
| fr-CA | French (Canada) | Défauts phénylcétonurie & variantes &ou Bioptérine Defects: |
| fr-FR | French (France) | Phénylcétonurie et variantes et/ou bioptérine carence: |
| fr-BE | French (Belgium) | Défauts phénylcétonurie & variantes/Bioptérine Defects: |
| it-IT | Italian (Italy) | Fenilchetonuria e varianti &o difetti biopterina: Synonyms: Chimica Fenilchetonuria e varianti/Difetti biopterina Impressione/interpretazione di studio Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | fenylketonurie en varianten en/of biopterinedefecten: |
| pt-BR | Portuguese (Brazil) | Fenilcetonúria e variantes e/ou biopterina defeitos: Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Фенилкетонурия и варианты &или биоптерин дефекты: Synonyms: Впечатление/интерпретация исследования Кровь Кровь сухая капля Номинальный; |
| tr-TR | Turkish (Turkey) | Fenilketonüri ve varyantları veveya biyopterin kusurları: |
| zh-CN | Chinese (China) | 苯丙酮尿症和变种和或生物蝶呤缺陷: Synonyms: BIOPT; |
Third Party Copyright
This material includes SNOMED Clinical Terms® (SNOMED CT®) which is used by permission of the International Health Terminology Standards Development Organisation (IHTSDO) under license. All rights reserved. SNOMED CT® was originally created by The College of American Pathologists. "SNOMED" and "SNOMED CT" are registered trademarks of the IHTSDO.
This material includes content from the US Edition to SNOMED CT, which is developed and maintained by the U.S. National Library of Medicine and is available to authorized UMLS Metathesaurus Licensees from the UTS Downloads site at https://uts.nlm.nih.gov.
Use of SNOMED CT content is subject to the terms and conditions set forth in the SNOMED CT Affiliate License Agreement. It is the responsibility of those implementing this product to ensure they are appropriately licensed and for more information on the license, including how to register as an Affiliate Licensee, please refer to http://www.snomed.org/snomed-ct/get-snomed-ct or info@snomed.org<mailto:info@snomed.org>. This may incur a fee in SNOMED International non-Member countries.
58231-2 Phenylketonuria and variants/Biopterin defects newborn screening comment-discussion
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Phenylketonuria and variants &or biopterin defects newborn screening comment-discussion
- Property
- Txt
- Time
- Pt
- System
- Bld.dot
- Scale
- Nar
- Method
Additional Names
- Short Name
- PKU+Var/BIOPT Defects NBS comment
- Display Name
- Phenylketonuria and variants/Biopterin defects newborn screening comment-discussion Nar (DBS)
- Consumer Name Alpha Get Info
- Phenylketonuria and Variants/Biopterin defects newborn screening comment-discussion, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.30
- Last Updated
- Version 2.73
- Order vs. Observation
- Observation
- Common Test Rank Get Info
- 19189
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 53261-4 | Amino acid newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Fenilcetonuria y variantes/defectos de biopterina screnning de recién nacidos comentario-discusión: Synonyms: Comentario/discusión del cribado de la fenilcetonuria y variantes/defectos de biopterina en el recien nacido |
| es-MX | Spanish (Mexico) | Fenilcetonuria y variantes o defectos de la biopterina cribado neonatal comentario-discusión: |
| fr-FR | French (France) | Phénylcétonurie et variantes et/ou bioptérine carence dépistage néonatal (commentaire-discussion): |
| fr-BE | French (Belgium) | Défauts phénylcétonurie & variantes/Bioptérine Defects Commentaires.screening néonatal.discussion: |
| it-IT | Italian (Italy) | Fenilchetonuria e varianti &o difetti biopterina, screening neonatale, commenti-discussione: Synonyms: Chimica Commento/discussione di screening neonatale per fenilchetonuria e varianti/difetti biopterina Fenilchetonuria e varianti/Difetti biopterina Punto nel tempo (episodio) Sangue Spot sangue secco Testo |
| nl-NL | Dutch (Netherlands) | fenylketonurie en varianten en/of biopterinedefecten screening van pasgeborene commentaar-discussie: |
| pl-PL | Polish (Poland) | Fenyloketonuria i jej warianty np, defekty syntezy biopteryny komentarz-dyskusja nad badaniami przesiewowymi noworodka: |
| pt-BR | Portuguese (Brazil) | Fenilcetonúria e variantes e/ou defeitos da biopterina triagem neonatal comentários-discussão: Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Фенилкетонурия и варианты &или биоптерин дефекты новорожденный скрининг комментарий-дискуссия: Synonyms: Кровь Кровь сухая капля Описательный Текст Точка во времени; |
| tr-TR | Turkish (Turkey) | Fenilketonüri ve varyantları veveya biyopterin kusurları yenidoğan tarama öneri-tartışma: |
| zh-CN | Chinese (China) | 苯丙酮尿症和变种和或生物蝶呤缺陷 新生儿筛查注释-讨论: Synonyms: Asympt BIOPT; |
46743-1 Maple syrup urine disease newborn screen interpretation
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Maple syrup urine disease
- Property
- Imp
- Time
- Pt
- System
- Bld.dot
- Scale
- Nom
- Method
Additional Names
- Short Name
- MSUD DBS-Imp
- Display Name
- Maple syrup urine disease (DBS) [Interp]
- Consumer Name Alpha Get Info
- Maple syrup urine disease, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.19
- Last Updated
- Version 2.73
- Change Reason
- Changed answer list from "Normative" to "Preferred" to fit the current LOINC model.
- Order vs. Observation
- Observation
- Common Test Rank Get Info
- 14378
Preferred Answer List LL840-0
| Answer | Code | Score | Answer ID |
|---|---|---|---|
| In range | LA18592-8 | ||
| Borderline | LA4259-3 | ||
| Indeterminate Copyright http://snomed.info/sct ID:82334004 Indeterminate (qualifier value) | LA11884-6 | ||
| Out of range | LA18593-6 | ||
| Out of range requiring further dried blood spot testing for at least one condition | LA12430-7 | ||
| Out of range requiring immediate referral | LA25817-0 | ||
| Out of range requiring immediate second-tier testing for at least one condition | LA12431-5 | ||
| Out of range requiring deferred follow-up for at least one condition | LA18594-4 | ||
| One or more tests pending | LA16204-2 | ||
| Specimen unsatisfactory for at least one condition | LA16205-9 |
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 53261-4 | Amino acid newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Enfermedad orina jarabe de arce: |
| es-MX | Spanish (Mexico) | Enfermedad de la orina con jarabe de arce: |
| fr-CA | French (Canada) | Leucinose: |
| fr-FR | French (France) | Leucinose: |
| fr-BE | French (Belgium) | Leucinose: |
| it-IT | Italian (Italy) | Sciroppo d'acero, malattia urine: Synonyms: Chimica Impressione/interpretazione di studio Malattia delle urine a sciroppo d''acero Punto nel tempo (episodio) Sangue Sciroppo d''acero Spot sangue secco |
| nl-NL | Dutch (Netherlands) | Maple syrup urine disease: Synonyms: ahornsiroop |
| pt-BR | Portuguese (Brazil) | Maple xarope doença urinária: Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Кленовый сироп моча болезнь: Synonyms: Болезнь кленового сиропа; |
| tr-TR | Turkish (Turkey) | Akçaağaç şurupu idrar hastalığı: |
| zh-CN | Chinese (China) | 槭糖浆尿病: Synonyms: MSUD; |
Third Party Copyright
This material includes SNOMED Clinical Terms® (SNOMED CT®) which is used by permission of the International Health Terminology Standards Development Organisation (IHTSDO) under license. All rights reserved. SNOMED CT® was originally created by The College of American Pathologists. "SNOMED" and "SNOMED CT" are registered trademarks of the IHTSDO.
This material includes content from the US Edition to SNOMED CT, which is developed and maintained by the U.S. National Library of Medicine and is available to authorized UMLS Metathesaurus Licensees from the UTS Downloads site at https://uts.nlm.nih.gov.
Use of SNOMED CT content is subject to the terms and conditions set forth in the SNOMED CT Affiliate License Agreement. It is the responsibility of those implementing this product to ensure they are appropriately licensed and for more information on the license, including how to register as an Affiliate Licensee, please refer to http://www.snomed.org/snomed-ct/get-snomed-ct or info@snomed.org<mailto:info@snomed.org>. This may incur a fee in SNOMED International non-Member countries.
58230-4 Maple syrup urine disease newborn screening comment-discussion
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Maple syrup urine disease newborn screening comment-discussion
- Property
- Txt
- Time
- Pt
- System
- Bld.dot
- Scale
- Nar
- Method
Additional Names
- Short Name
- MSUD NBS comment
- Display Name
- Maple syrup urine disease newborn screening comment-discussion Nar (DBS)
- Consumer Name Alpha Get Info
- Maple syrup urine disease newborn screening comment-discussion, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.30
- Last Updated
- Version 2.42
- Order vs. Observation
- Observation
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 53261-4 | Amino acid newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Enfermedad orina jarabe de arce screnning de recién nacidos comentario-discusión: Synonyms: Comentario/discusión del cribado de la enfermedad del jarabe de arce en el recien nacido |
| es-MX | Spanish (Mexico) | Jarabe de arce, enfermedad de la orina, evaluación del recién nacido, comentario-discusión: |
| fr-FR | French (France) | Leucinose dépistage néonatal (commentaire-discussion): |
| fr-BE | French (Belgium) | Leucinose Commentaires.screening néonatal.discussion: |
| it-IT | Italian (Italy) | Sciroppo d'acero, malattia urine, screening neonatale, commenti-discussione: Synonyms: Chimica Commento/discussione di screening neonatale per malattia delle urine a sciroppo d''acero Malattia delle urine a sciroppo d''acero Punto nel tempo (episodio) Sangue Sciroppo d''acero Spot sangue secco Testo |
| nl-NL | Dutch (Netherlands) | Maple syrup urine disease screening van pasgeborene commentaar-discussie: Synonyms: ahornsiroop |
| pt-BR | Portuguese (Brazil) | Doença do xarope de bordo na urina triagem neonatal comentários-discussão: Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Кленовый сироп моча болезнь новорожденный скрининг комментарий-дискуссия: Synonyms: Болезнь кленового сиропа; |
| tr-TR | Turkish (Turkey) | Akçaağaç şurupu idrar hastalığı yenidoğan tarama öneri-tartışma: |
| zh-CN | Chinese (China) | 槭糖浆尿病 新生儿筛查注释-讨论: Synonyms: Asympt MSUD; |
47539-2 3-Methylhistidine [Moles/volume] in DBS
Term Description
The tentative opinion of the HTSP review (5/13/08) committee was that this marker has no clinical utility based on today's knowledge.
Source: Regenstrief LOINC
Part Descriptions
LP15303-8 3-Methylhistidine
3-Methylhistidine is an amino acid occurring in myofibrillar proteins and important in the synthesis of carnosine. Increased levels of 3-Methylhistidine indicative of active catabolism of muscle protein. Information from Dorland's Medical Dictionary, www.mercksource.com, accessed 2006 11 30.
Source: Regenstrief Institute
LP15303-8 3-Methylhistidine
3-Methylhistidine is a product of peptide bond synthesis and methylation of actin and myosin. The measurement of 3-Methylhistidine provides an index of the rate of muscle protein breakdown.
Copyright Copyright ©2005-2009 Genome Alberta (Reference to original publication: Wishart DS, Knox C, Guo AC, et al. HMDB: a knowledgebase for the human metabolome. Nucleic Acids Res. 2009 37(Database issue):D603-610.)
Source: Human Metabolome Database, Human Metabolome Database
Observation Required in Panel
Conditional
Type of Entry
Question expects user entry - requires response [Q]
Fully-Specified Name
- Component
- 3-Methylhistidine
- Property
- SCnc
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- 3Me-histidine DBS-sCnc
- Display Name
- 3-Methylhistidine (DBS) [Moles/Vol]
- Consumer Name Alpha Get Info
- 3-Methylhistidine, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.21
- Last Updated
- Version 2.70
- Order vs. Observation
- Both
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 53261-4 | Amino acid newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| de-DE | German (Germany) | 3-Methylhistidin: |
| es-ES | Spanish (Spain) | 3-Metilhistidina: Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | 3-metilhistidina: |
| et-EE | Estonian (Estonia) | 3-metüülhistidiin: Synonyms: Aine kontsentratsioon Juhuslik Kvantitatiivne Veri |
| fr-CA | French (Canada) | 3-méthylhistidine: |
| fr-FR | French (France) | 3-méthylhistidine: |
| fr-BE | French (Belgium) | 3-méthylhistidine: |
| it-IT | Italian (Italy) | 3-Metilistidina: Synonyms: Chimica Concentrazione di Sostanza Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | 3-methylhistidine: |
| pt-BR | Portuguese (Brazil) | 3-Metilhistidina: Synonyms: ; |
| ru-RU | Russian (Russian Federation) | 3-Метилгистидин: Synonyms: Количественный Кровь Кровь сухая капля Молярность; |
| tr-TR | Turkish (Turkey) | 3-Metilhistidin: |
| zh-CN | Chinese (China) | 3-甲基组氨酸: Synonyms: 3Me-His; |
Example Units
| Unit | Source |
|---|---|
| umol/L | Example UCUM Units |
53232-5 5-Oxoproline+Pipecolate [Moles/volume] in DBS
Part Descriptions
LP70201-6 5-Oxoproline+Pipecolate
5-Oxoproline+Pipecolate is a primary marker for Pyroglutamic acidemia.
Source: Regenstrief LOINC
Observation Required in Panel
Conditional
Type of Entry
Question expects user entry - requires response [Q]
Fully-Specified Name
- Component
- 5-Oxoproline+Pipecolate
- Property
- SCnc
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- 5-Oxoproline+Pipecolate DBS-sCnc
- Display Name
- 5-Oxoproline+Pipecolate (DBS) [Moles/Vol]
- Consumer Name Alpha Get Info
- 5-Oxoproline+Pipecolate, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.24
- Last Updated
- Version 2.73
- Order vs. Observation
- Both
- Common Test Rank Get Info
- 16828
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 53261-4 | Amino acid newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | 5-Oxoprolina+Pipecolato: Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | 5-Oxoprolina + Pipecolate: |
| et-EE | Estonian (Estonia) | 5-oksoproliin + pipekolaat: Synonyms: Aine kontsentratsioon Juhuslik Kvantitatiivne Veri |
| fr-CA | French (Canada) | 5-oxoproline+Pipécolate: |
| fr-FR | French (France) | Pyroglutamate+pipécolate: |
| fr-BE | French (Belgium) | 5-oxoproline+Pipécolate: |
| it-IT | Italian (Italy) | 5-Oxoprolina+Pipecolato: Synonyms: Chimica Concentrazione di Sostanza Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | 5-oxoproline + pipecolaat: |
| pt-BR | Portuguese (Brazil) | 5-Oxoprolina+Pipecolate: Synonyms: Pipa; |
| ru-RU | Russian (Russian Federation) | 5-Оксопролин+Пипеколат: Synonyms: Количественный Кровь Кровь сухая капля Молярность; |
| tr-TR | Turkish (Turkey) | 5-Okzoprolin+Pipekolat: |
| zh-CN | Chinese (China) | 5-羟脯氨酸+哌啶酸: Synonyms: 5-羟脯氨酸+哌可酸 克分子浓度; |
Example Units
| Unit | Source |
|---|---|
| umol/L | Example UCUM Units |
53394-3 5-Oxoproline+Pipecolate/Phenylalanine [Molar ratio] in DBS
Part Descriptions
LP70160-4 Phenylalanine
Phenylalanine is an essential alpha-amino acid. It exists in two forms, a D and an L form, which are enantiomers (mirror-image molecules) of each other. It has a benzyl side chain and its name comes from its chemical structures that consists of a phenyl group substituted for one of the hydrogens in the side chain of alanine. Because of its phenyl group, phenylalanine is an aromatic compound that at room temperature exists as a white, powdery solid. L -phenylalanine (LPA) is an electrically-neutral amino acid and its enantiomer, D -phenylalanine (DPA), can be synthesized artificially. L -phenylalanine can also be converted into L -tyrosine, another one of the twenty protein-forming amino acids.
Copyright Text is available under the Creative Commons Attribution/Share-Alike License. See http://creativecommons.org/licenses/by-sa/3.0/ for details.
Source: Wikipedia, Phenylalanine (Wikipedia)
LP70201-6 5-Oxoproline+Pipecolate
5-Oxoproline+Pipecolate is a primary marker for Pyroglutamic acidemia.
Source: Regenstrief LOINC
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- 5-Oxoproline+Pipecolate/Phenylalanine
- Property
- SRto
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- 5-Oxoproline+Pipecolate/Phe DBS-sRto
- Display Name
- 5-Oxoproline+Pipecolate/Phenylalanine (DBS) [Molar ratio]
- Consumer Name Alpha Get Info
- 5-Oxoproline+Pipecolate/Phenylalanine, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.24
- Last Updated
- Version 2.70
- Order vs. Observation
- Observation
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 53261-4 | Amino acid newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | 5-Oxoprolina+Pipecolato/Fenilalanina: Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | 5-oxoprolina + pipecolate / fenilalanina: |
| fr-CA | French (Canada) | 5-oxoproline+Pipécolate/Phénylalanine: |
| fr-FR | French (France) | Pyroglutamate+pipécolate/phénylalanine: |
| fr-BE | French (Belgium) | 5-oxoproline+Pipécolate/Phénylalanine: |
| it-IT | Italian (Italy) | 5-Oxoprolina+Pipecolato/Fenilalanina: Synonyms: Chimica Punto nel tempo (episodio) Rapporto di sostanza Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | 5-oxoproline + pipecolaat/fenylalanine: Synonyms: phenylalanine |
| pt-BR | Portuguese (Brazil) | 5-oxoprolina+Pipecolate/Fenilalanina: Synonyms: Pipa; |
| ru-RU | Russian (Russian Federation) | 5-Оксопролин+Пипеколат/Фенилаланин: Synonyms: Количественный Кровь Кровь сухая капля Мольная доля; |
| tr-TR | Turkish (Turkey) | 5-Okzoprolin+Pipekolat/Fenilalanin: Synonyms: SubsOranı |
| zh-CN | Chinese (China) | 5-羟脯氨酸+哌啶酸/苯丙氨酸: Synonyms: 5-羟脯氨酸+哌可酸 Phe Phe; |
Example Units
| Unit | Source |
|---|---|
| {Ratio} | Example UCUM Units |
53150-9 Alanine+Beta Alanine+Sarcosine [Moles/volume] in DBS
Part Descriptions
LP70080-4 Alanine+Beta Alanine+Sarcosine
Alanine+Beta Alanine+Sarcosine is a secondary marker for Pyruvate carboxylase deficiency and Primary lactic acidemia (various types).
Source: Regenstrief LOINC
Observation Required in Panel
Conditional
Type of Entry
Question expects user entry - requires response [Q]
Fully-Specified Name
- Component
- Alanine+Beta Alanine+Sarcosine
- Property
- SCnc
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- Ala+B-Ala+Sar DBS-sCnc
- Display Name
- Alanine+Beta Alanine+Sarcosine (DBS) [Moles/Vol]
- Consumer Name Alpha Get Info
- Alanine+Beta alanine+Sarcosine, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.24
- Last Updated
- Version 2.73
- Order vs. Observation
- Both
- Common Test Rank Get Info
- 18874
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 53261-4 | Amino acid newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Alanina+ Beta alanina+ Sarcosina: Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Alanina + Beta Alanina + Sarcosina: |
| et-EE | Estonian (Estonia) | Alaniin + Beetaalaniin + sarkosiin: Synonyms: Aine kontsentratsioon Juhuslik Kvantitatiivne Veri |
| fr-CA | French (Canada) | Alanine+ Bêta-alanine+ Sarcosine: Synonyms: #REF! |
| fr-FR | French (France) | Alanine+bêta alanine+sarcosine: |
| fr-BE | French (Belgium) | Alanine+Beta Alanine+Sarcosine: |
| it-IT | Italian (Italy) | Alanina+Beta Alanina+Sarcosina: Synonyms: Chimica Concentrazione di Sostanza Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | alanine + bèta-alanine + sarcosine: |
| pt-BR | Portuguese (Brazil) | Alanina+Beta Alanina+Sarcosina: Synonyms: Sar; |
| ru-RU | Russian (Russian Federation) | Аланин+Бета Аланин+Саркозин: Synonyms: Бета-аланин Количественный Кровь Кровь сухая капля Молярность; |
| tr-TR | Turkish (Turkey) | Alanin+Beta Alanin+Sarkozin: |
| zh-CN | Chinese (China) | 丙氨酸+Beta 丙氨酸+肌氨酸: Synonyms: Ala; |
Example Units
| Unit | Source |
|---|---|
| umol/L | Example UCUM Units |
53393-5 Alloisoleucine+Isoleucine+Leucine+Hydroxyproline+Valine/Phenylalanine+Tyrosine [Molar ratio] in DBS
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Alloisoleucine+Isoleucine+Leucine+Hydroxyproline+Valine/Phenylalanine+Tyrosine
- Property
- SRto
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- Aile+Ile+Leu+Hyp+Val/Phe+Tyr DBS-sRto
- Display Name
- Alloisoleucine+Isoleucine+Leucine+Hydroxyproline+Valine/Phenylalanine+Tyrosine (DBS) [Molar ratio]
- Consumer Name Alpha Get Info
- Alloisoleucine+Isoleucine+Leucine+Hydroxyproline+Valine/Phenylalanine+Tyrosine, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.24
- Last Updated
- Version 2.73
- Order vs. Observation
- Observation
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 53261-4 | Amino acid newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Aloisoleucina + Isoleucina + Leucina + Hidroxiprolina + Valina/Fenilalanina+Tirosina: Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Aloisoleucina + Isoleucina + Leucina + Hidroxiprolina + Valina / Fenilalanina + Tirosina: |
| fr-CA | French (Canada) | Alloisoleucine+Isoleucine+Leucine+Hydroxyproline+Valine/Phénylalanine+tyrosine: |
| fr-FR | French (France) | Alloisoleucine+isoleucine+leucine+hydroxyproline+valine/phénylalanine+tyrosine: |
| fr-BE | French (Belgium) | Alloisoleucine+Isoleucine+Leucine+Hydroxyproline+Valine/Phénylalanine+tyrosine: Synonyms: OH-Proline |
| it-IT | Italian (Italy) | Alloisoleucina+Isoleucina+Leucina+Idrossiprolina+Valina/Fenilalanina+Tirosina: Synonyms: Chimica Punto nel tempo (episodio) Rapporto di sostanza Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | alloisoleucine + isoleucine + leucine + hydroxyproline + valine/fenylalanine + tyrosine: |
| pt-BR | Portuguese (Brazil) | Aloisoleucina+Isoleucina+Leucina+Hidroxiprolina+Valina/Fenilalanina+Tirosina: Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Аллоизолейцин+Изолейцин+Лейцин+Гидроксипролин+Валин/Фенилаланин+Тирозин: Synonyms: Количественный Кровь Кровь сухая капля Мольная доля; |
| tr-TR | Turkish (Turkey) | Alloizolösin+İzolösin+Lösin+Hidroksiprolin+Valin/Fenilalanin+Tirozin: Synonyms: SubsOranı |
| zh-CN | Chinese (China) | 别异亮氨酸+异亮氨酸+亮氨酸+羟脯氨酸+缬氨酸/苯丙氨酸+酪氨酸: Synonyms: 3-对羟苯基丙氨酸; |
Example Units
| Unit | Source |
|---|---|
| {Ratio} | Example UCUM Units |
53152-5 Alloisoleucine+Isoleucine+Leucine+Hydroxyproline [Moles/volume] in DBS
Part Descriptions
LP70081-2 Alloisoleucine+Isoleucine+Leucine+Hydroxyproline
Alloisoleucine+Isoleucine+Leucine+Hydroxyproline is a primary marker for Maple syrup urine disease and Hydroxyprolinemia
Source: Regenstrief LOINC
Observation Required in Panel
Conditional
Type of Entry
Question expects user entry - requires response [Q]
Fully-Specified Name
- Component
- Alloisoleucine+Isoleucine+Leucine+Hydroxyproline
- Property
- SCnc
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- Aile+Ile+Leu+Hyp DBS-sCnc
- Display Name
- Alloisoleucine+Isoleucine+Leucine+Hydroxyproline (DBS) [Moles/Vol]
- Consumer Name Alpha Get Info
- Alloisoleucine+Isoleucine+Leucine+Hydroxyproline, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.24
- Last Updated
- Version 2.73
- Order vs. Observation
- Both
- Common Test Rank Get Info
- 19300
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 53261-4 | Amino acid newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Aloisoleucina + Isoleucina + Leucina + Hidroxiprolina: Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Aloisoleucina + Isoleucina + Leucina + Hidroxiprolina: |
| et-EE | Estonian (Estonia) | Alloisoleutsiin + isoleutsiin + leutsiin + hüdroksüproliin: Synonyms: Aine kontsentratsioon Juhuslik Kvantitatiivne Veri |
| fr-CA | French (Canada) | Alloisoleucine+Isoleucine+Leucine+Hydroxyproline: |
| fr-FR | French (France) | Alloisoleucine+isoleucine+leucine+hydroxyproline: |
| fr-BE | French (Belgium) | Alloisoleucine+Isoleucine+Leucine+Hydroxyproline: Synonyms: OH-Proline |
| it-IT | Italian (Italy) | Alloisoleucina+Isoleucina+Leucina+Idrossiprolina: Synonyms: Chimica Concentrazione di Sostanza Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | alloisoleucine + isoleucine + leucine + hydroxyproline: |
| pt-BR | Portuguese (Brazil) | Aloisoleucina+Isoleucina+Leucina+Hidroxiprolina: Synonyms: Leu; |
| ru-RU | Russian (Russian Federation) | Аллоизолейцин+Изолейцин+Лейцин+Гидроксипролин: Synonyms: Количественный Кровь Кровь сухая капля Молярность; |
| tr-TR | Turkish (Turkey) | Alloizolösin+İzolösin+Lösin+Hidroksiprolin: |
| zh-CN | Chinese (China) | 别异亮氨酸+异亮氨酸+亮氨酸+羟脯氨酸: Synonyms: Hyp; |
Example Units
| Unit | Source |
|---|---|
| umol/L | Example UCUM Units |
53153-3 Alloisoleucine+Isoleucine+Leucine+Hydroxyproline/Phenylalanine [Molar ratio] in DBS
Term Description
Alloisoleucine+Isoleucine+Leucine+Hydroxyproline/Phenylalanine is a primary marker for Maple syrup urine disease and Hydroxyprolinemia
Source: Regenstrief LOINC
Part Descriptions
LP70081-2 Alloisoleucine+Isoleucine+Leucine+Hydroxyproline
Alloisoleucine+Isoleucine+Leucine+Hydroxyproline is a primary marker for Maple syrup urine disease and Hydroxyprolinemia
Source: Regenstrief LOINC
LP70160-4 Phenylalanine
Phenylalanine is an essential alpha-amino acid. It exists in two forms, a D and an L form, which are enantiomers (mirror-image molecules) of each other. It has a benzyl side chain and its name comes from its chemical structures that consists of a phenyl group substituted for one of the hydrogens in the side chain of alanine. Because of its phenyl group, phenylalanine is an aromatic compound that at room temperature exists as a white, powdery solid. L -phenylalanine (LPA) is an electrically-neutral amino acid and its enantiomer, D -phenylalanine (DPA), can be synthesized artificially. L -phenylalanine can also be converted into L -tyrosine, another one of the twenty protein-forming amino acids.
Copyright Text is available under the Creative Commons Attribution/Share-Alike License. See http://creativecommons.org/licenses/by-sa/3.0/ for details.
Source: Wikipedia, Phenylalanine (Wikipedia)
Observation Required in Panel
Conditional
Type of Entry
Question expects user entry - requires response [Q]
Fully-Specified Name
- Component
- Alloisoleucine+Isoleucine+Leucine+Hydroxyproline/Phenylalanine
- Property
- SRto
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- Aile+Ile+Leu+Hyp/Phe DBS-sRto
- Display Name
- Alloisoleucine+Isoleucine+Leucine+Hydroxyproline/Phenylalanine (DBS) [Molar ratio]
- Consumer Name Alpha Get Info
- Alloisoleucine+Isoleucine+Leucine+Hydroxyproline/Phenylalanine, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.24
- Last Updated
- Version 2.73
- Order vs. Observation
- Both
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 53261-4 | Amino acid newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Aloisoleucina + Isoleucina + Leucina + Hidroxiprolina/Fenilalanina: Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Aloisoleucina + Isoleucina + Leucina + Hidroxiprolina / Fenilalanina: |
| fr-CA | French (Canada) | Alloisoleucine+Isoleucine+Leucine+Hydroxyproline/Phénylalanine: |
| fr-FR | French (France) | Alloisoleucine+isoleucine+leucine+hydroxyproline/phénylalanine: |
| fr-BE | French (Belgium) | Alloisoleucine+Isoleucine+Leucine+Hydroxyproline/Phénylalanine: Synonyms: OH-Proline |
| it-IT | Italian (Italy) | Alloisoleucina+Isoleucina+Leucina+Idrossiprolina/Fenilalanina: Synonyms: Chimica Punto nel tempo (episodio) Rapporto di sostanza Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | alloisoleucine + isoleucine + leucine + hydroxyproline/fenylalanine: Synonyms: phenylalanine |
| pt-BR | Portuguese (Brazil) | Aloisoleucina+Isoleucina+Leucina+Hidroxiprolina/Fenilalanina: Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Аллоизолейцин+Изолейцин+Лейцин+Гидроксипролин/Фенилаланин: Synonyms: Количественный Кровь Кровь сухая капля Мольная доля; |
| tr-TR | Turkish (Turkey) | Alloizolösin+İzolösin+Lösin+Hidroksiprolin/Fenilalanin: Synonyms: SubsOranı |
| zh-CN | Chinese (China) | 别异亮氨酸+异亮氨酸+亮氨酸+羟脯氨酸/苯丙氨酸: Synonyms: Hyp; |
Example Units
| Unit | Source |
|---|---|
| {Ratio} | Example UCUM Units |
53154-1 Alloisoleucine+Isoleucine+Leucine+Hydroxyproline/Alanine [Molar ratio] in DBS
Term Description
Alloisoleucine+Isoleucine+Leucine+Hydroxyproline/Alanine is a primary marker for Maple syrup urine disease and Hydroxyprolinemia.
Source: Regenstrief LOINC
Part Descriptions
LP70081-2 Alloisoleucine+Isoleucine+Leucine+Hydroxyproline
Alloisoleucine+Isoleucine+Leucine+Hydroxyproline is a primary marker for Maple syrup urine disease and Hydroxyprolinemia
Source: Regenstrief LOINC
LP70161-2 Alanine
Alanine is a non-essential amino acid that exists as two distinct enantiomers: L-alanine and D-alanine. Alanine is one of the primary amino acids (secondary to leucine) used for protein construction. It is produced from pyruvate, exists in high levels in plasma, and is involved in the metabolism of sugar and organic acids.[PubChem: Alanine] Alanine acts as a substrate for alanine aminotransferase (ALT), an enzyme commonly measured to determine liver health. Increased alanine levels are seen in patients with lactic acidosis, carbamoyl phosphate synthetase deficiency, histidinemia, hyperprolinemia, and ornithine transcarbamylase deficiency. In patients with a mitochondrial disease, elevated alanine levels are primarily seen during times of physiologic stress or regression. PMID: 18243024
Source: Regenstrief LOINC
Observation Required in Panel
Conditional
Type of Entry
Question expects user entry - requires response [Q]
Fully-Specified Name
- Component
- Alloisoleucine+Isoleucine+Leucine+Hydroxyproline/Alanine
- Property
- SRto
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- Aile+Ile+Leu+Hyp/Alanine DBS-sRto
- Display Name
- Alloisoleucine+Isoleucine+Leucine+Hydroxyproline/Alanine (DBS) [Molar ratio]
- Consumer Name Alpha Get Info
- Alloisoleucine+Isoleucine+Leucine+Hydroxyproline/Alanine, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.24
- Last Updated
- Version 2.73
- Order vs. Observation
- Both
- Common Test Rank Get Info
- 19229
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 53261-4 | Amino acid newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Aloisoleucina + Isoleucina + Leucina + Hidroxiprolina/Alanina: Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Aloisoleucina + Isoleucina + Leucina + Hidroxiprolina / Alanina: |
| fr-CA | French (Canada) | Alloisoleucine+Isoleucine+Leucine+Hydroxyproline/Alanine: |
| fr-FR | French (France) | Alloisoleucine+isoleucine+leucine+hydroxyproline/alanine: |
| fr-BE | French (Belgium) | Alloisoleucine+Isoleucine+Leucine+Hydroxyproline/Alanine: Synonyms: OH-Proline |
| it-IT | Italian (Italy) | Alloisoleucina+Isoleucina+Leucina+Idrossiprolina/Alanina: Synonyms: Chimica Punto nel tempo (episodio) Rapporto di sostanza Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | alloisoleucine + isoleucine + leucine + hydroxyproline/alanine: |
| pt-BR | Portuguese (Brazil) | Aloisoleucina+Isoleucina+Leucina+Hidroxiprolina/Alanina: Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Аллоизолейцин+Изолейцин+Лейцин+Гидроксипролин/Аланин: Synonyms: Количественный Кровь Кровь сухая капля Мольная доля; |
| tr-TR | Turkish (Turkey) | Alloizolösin+İzolösin+Lösin+Hidroksiprolin/Alanin: Synonyms: SubsOranı |
| zh-CN | Chinese (China) | 别异亮氨酸+异亮氨酸+亮氨酸+羟脯氨酸/丙氨酸: Synonyms: Ala Ala; |
Example Units
| Unit | Source |
|---|---|
| {Ratio} | Example UCUM Units |
47562-4 Arginine [Moles/volume] in DBS
Part Descriptions
LP15416-8 Arginine
Arginine (symbol Arg or R) is an amino acid. The L-form (L-arginine) is one of the 20 most common natural amino acids. In mammals, arginine is classified as a conditionally essential amino acid, depending on the developmental stage and health status of the individuals. Infants are unable to effectively synthesize arginine, making it nutritionally essential for them. Adults, however, are able to synthesize arginine in the urea cycle. The body uses arginine for a variety of purposes, including boosting immune system function and improving blood flow. Arginine sources include diet, medication, and/or nutritional supplements. Dietary sources include meat, dairy products and fish.
Source: Medline Plus, MedlinePlus: L-arginine
Observation Required in Panel
Conditional
Type of Entry
Question expects user entry - requires response [Q]
Fully-Specified Name
- Component
- Arginine
- Property
- SCnc
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- Arginine DBS-sCnc
- Display Name
- Arginine (DBS) [Moles/Vol]
- Consumer Name Alpha Get Info
- Arginine, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.21
- Last Updated
- Version 2.73
- Order vs. Observation
- Both
- Common Test Rank Get Info
- 19379
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 53261-4 | Amino acid newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| de-AT | German (Austria) | Synonyms: Arginin /Trockenblut |
| es-ES | Spanish (Spain) | Arginina: Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Arginina: |
| et-EE | Estonian (Estonia) | Arginiin: Synonyms: Aine kontsentratsioon Juhuslik Kvantitatiivne Veri |
| fr-CA | French (Canada) | Arginine: |
| fr-FR | French (France) | Arginine: |
| fr-BE | French (Belgium) | Arginine: |
| it-IT | Italian (Italy) | Arginina: Synonyms: Chimica Concentrazione di Sostanza Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | arginine: |
| pt-BR | Portuguese (Brazil) | Arginina: Synonyms: Arg; |
| ru-RU | Russian (Russian Federation) | Аргинин: Synonyms: Количественный Кровь Кровь сухая капля Молярность; |
| tr-TR | Turkish (Turkey) | Arjinin: |
| zh-CN | Chinese (China) | 精氨酸: Synonyms: 2-氨基-5-胍基戊酸; |
Example Units
| Unit | Source |
|---|---|
| umol/L | Example UCUM Units |
75214-7 Arginine/Ornithine [Molar ratio] in DBS
Term Description
Arginine/Ornithine is a marker for argininemia, which is one of the secondary conditions on the HHS Secretary's Recommended Uniform Screening Panel for newborn screening.
Source: Regenstrief LOINC
Part Descriptions
LP15416-8 Arginine
Arginine (symbol Arg or R) is an amino acid. The L-form (L-arginine) is one of the 20 most common natural amino acids. In mammals, arginine is classified as a conditionally essential amino acid, depending on the developmental stage and health status of the individuals. Infants are unable to effectively synthesize arginine, making it nutritionally essential for them. Adults, however, are able to synthesize arginine in the urea cycle. The body uses arginine for a variety of purposes, including boosting immune system function and improving blood flow. Arginine sources include diet, medication, and/or nutritional supplements. Dietary sources include meat, dairy products and fish.
Source: Medline Plus, MedlinePlus: L-arginine
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Arginine/Ornithine
- Property
- SRto
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- Arginine/Ornithine DBS-sRto
- Display Name
- Arginine/Ornithine (DBS) [Molar ratio]
- Consumer Name Alpha Get Info
- Arginine/Ornithine, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.48
- Last Updated
- Version 2.61
- Order vs. Observation
- Both
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 53261-4 | Amino acid newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Arginina/Ornitina: Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Arginina / Ornitina: |
| fr-FR | French (France) | Arginine/ornithine: |
| it-IT | Italian (Italy) | Arginina/Ornitina: Synonyms: Chimica Punto nel tempo (episodio) Rapporto di sostanza Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | arginine/ornithine: |
| pt-BR | Portuguese (Brazil) | Arginina/Ornitina: |
| ru-RU | Russian (Russian Federation) | Аргинин/Орнитин: Synonyms: Количественный Кровь Кровь сухая капля Мольная доля; |
| tr-TR | Turkish (Turkey) | Arjinin/Ornitin: Synonyms: SubsOranı |
| zh-CN | Chinese (China) | 精氨酸/鸟氨酸: Synonyms: 2,5-二氨基戊酸; |
Example Units
| Unit | Source |
|---|---|
| {ratio} | Example UCUM Units |
53398-4 Arginine/Phenylalanine [Molar ratio] in DBS
Part Descriptions
LP15416-8 Arginine
Arginine (symbol Arg or R) is an amino acid. The L-form (L-arginine) is one of the 20 most common natural amino acids. In mammals, arginine is classified as a conditionally essential amino acid, depending on the developmental stage and health status of the individuals. Infants are unable to effectively synthesize arginine, making it nutritionally essential for them. Adults, however, are able to synthesize arginine in the urea cycle. The body uses arginine for a variety of purposes, including boosting immune system function and improving blood flow. Arginine sources include diet, medication, and/or nutritional supplements. Dietary sources include meat, dairy products and fish.
Source: Medline Plus, MedlinePlus: L-arginine
LP70160-4 Phenylalanine
Phenylalanine is an essential alpha-amino acid. It exists in two forms, a D and an L form, which are enantiomers (mirror-image molecules) of each other. It has a benzyl side chain and its name comes from its chemical structures that consists of a phenyl group substituted for one of the hydrogens in the side chain of alanine. Because of its phenyl group, phenylalanine is an aromatic compound that at room temperature exists as a white, powdery solid. L -phenylalanine (LPA) is an electrically-neutral amino acid and its enantiomer, D -phenylalanine (DPA), can be synthesized artificially. L -phenylalanine can also be converted into L -tyrosine, another one of the twenty protein-forming amino acids.
Copyright Text is available under the Creative Commons Attribution/Share-Alike License. See http://creativecommons.org/licenses/by-sa/3.0/ for details.
Source: Wikipedia, Phenylalanine (Wikipedia)
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Arginine/Phenylalanine
- Property
- SRto
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- Arginine/Phe DBS-sRto
- Display Name
- Arginine/Phenylalanine (DBS) [Molar ratio]
- Consumer Name Alpha Get Info
- Arginine/Phenylalanine, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.24
- Last Updated
- Version 2.73
- Order vs. Observation
- Observation
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 53261-4 | Amino acid newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Arginina/Fenilalanina: Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Arginina / Fenilalanina: |
| fr-CA | French (Canada) | Arginine/Phénylalanine: |
| fr-FR | French (France) | Arginine/phénylalanine: |
| fr-BE | French (Belgium) | Arginine/Phénylalanine: |
| it-IT | Italian (Italy) | Arginina/Fenilalanina: Synonyms: Chimica Punto nel tempo (episodio) Rapporto di sostanza Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | arginine/fenylalanine: Synonyms: phenylalanine |
| pt-BR | Portuguese (Brazil) | Arginina/Fenilalanina: Synonyms: Arg; |
| ru-RU | Russian (Russian Federation) | Аргинин/Фенилаланин: Synonyms: Количественный Кровь Кровь сухая капля Мольная доля; |
| tr-TR | Turkish (Turkey) | Arjinin/Fenilalanin: Synonyms: SubsOranı |
| zh-CN | Chinese (China) | 精氨酸/苯丙氨酸: Synonyms: 2-氨基-5-胍基戊酸; |
Example Units
| Unit | Source |
|---|---|
| {Ratio} | Example UCUM Units |
53062-6 Argininosuccinate [Moles/volume] in DBS
Part Descriptions
LP15417-6 Argininosuccinate
Argininosuccinic acid is a chemical compound that belongs to the class of the amino acids. Some cells synthesize it from citrulline, aspartic acid and use it as a precursor for arginine in the urea cycle or Citrulline-NO cycle. The enzyme that catalyzes the reaction is ASS.
Copyright Text is available under the Creative Commons Attribution/Share-Alike License. See http://creativecommons.org/licenses/by-sa/3.0/ for details.
Source: Wikipedia, Argininosuccinate (Wikipedia)
LP15417-6 Argininosuccinate
Argininosuccinate is a primary marker for Argininosuccinic aciduria.
Source: Regenstrief LOINC
Observation Required in Panel
Conditional
Type of Entry
Question expects user entry - requires response [Q]
Fully-Specified Name
- Component
- Argininosuccinate
- Property
- SCnc
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- Argininosuccinate DBS-sCnc
- Display Name
- Argininosuccinate (DBS) [Moles/Vol]
- Consumer Name Alpha Get Info
- Argininosuccinate, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.24
- Last Updated
- Version 2.73
- Order vs. Observation
- Both
- Common Test Rank Get Info
- 19840
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 53261-4 | Amino acid newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| de-DE | German (Germany) | Argininosuccinat: |
| es-ES | Spanish (Spain) | Arginosuccinato: Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Argininosuccinato: |
| et-EE | Estonian (Estonia) | Argininosuksinaat: Synonyms: Aine kontsentratsioon Juhuslik Kvantitatiivne Veri |
| fr-CA | French (Canada) | Argininosuccinate: |
| fr-FR | French (France) | Argininosuccinate: |
| fr-BE | French (Belgium) | Argininosuccinate: |
| it-IT | Italian (Italy) | Argininosuccinato: Synonyms: Chimica Concentrazione di Sostanza Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | argininosuccinaat: |
| pt-BR | Portuguese (Brazil) | Argininosuccinato: Synonyms: ASA; |
| ru-RU | Russian (Russian Federation) | Аргининосукцинат: Synonyms: Количественный Кровь Кровь сухая капля Молярность; |
| tr-TR | Turkish (Turkey) | Arjininosüksinat: |
| zh-CN | Chinese (China) | 精氨基琥珀酸: Synonyms: 克分子浓度; |
Example Units
| Unit | Source |
|---|---|
| umol/L | Example UCUM Units |
53200-2 Argininosuccinate/Arginine [Molar ratio] in DBS
Term Description
Argininosuccinate/Arginine is a primary marker for Argininosuccinic aciduria.
Source: Regenstrief LOINC
Part Descriptions
LP15417-6 Argininosuccinate
Argininosuccinic acid is a chemical compound that belongs to the class of the amino acids. Some cells synthesize it from citrulline, aspartic acid and use it as a precursor for arginine in the urea cycle or Citrulline-NO cycle. The enzyme that catalyzes the reaction is ASS.
Copyright Text is available under the Creative Commons Attribution/Share-Alike License. See http://creativecommons.org/licenses/by-sa/3.0/ for details.
Source: Wikipedia, Argininosuccinate (Wikipedia)
LP15417-6 Argininosuccinate
Argininosuccinate is a primary marker for Argininosuccinic aciduria.
Source: Regenstrief LOINC
Observation Required in Panel
Conditional
Type of Entry
Question expects user entry - requires response [Q]
Fully-Specified Name
- Component
- Argininosuccinate/Arginine
- Property
- SRto
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- Argininosuccinate/Arginine DBS-sRto
- Display Name
- Argininosuccinate/Arginine (DBS) [Molar ratio]
- Consumer Name Alpha Get Info
- Argininosuccinate/Arginine, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.24
- Last Updated
- Version 2.73
- Order vs. Observation
- Both
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 53261-4 | Amino acid newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Arginosuccinato/Arginina: Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Argininosuccinato / Arginina: |
| fr-CA | French (Canada) | Argininosuccinate/Arginine: |
| fr-FR | French (France) | Argininosuccinate/arginine: |
| fr-BE | French (Belgium) | Argininosuccinate/Arginine: |
| it-IT | Italian (Italy) | Argininosuccinato/Arginina: Synonyms: Chimica Punto nel tempo (episodio) Rapporto di sostanza Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | argininosuccinaat/arginine: |
| pt-BR | Portuguese (Brazil) | Argininosuccinato/Arginina: Synonyms: ASA; |
| ru-RU | Russian (Russian Federation) | Аргининосукцинат/Аргинин: Synonyms: Количественный Кровь Кровь сухая капля Мольная доля; |
| tr-TR | Turkish (Turkey) | Arjininosüksinat/Arjinin: Synonyms: SubsOranı |
| zh-CN | Chinese (China) | 精氨基琥珀酸/精氨酸: Synonyms: 2-氨基-5-胍基戊酸 2-氨基-5-胍基戊酸; |
Example Units
| Unit | Source |
|---|---|
| {Ratio} | Example UCUM Units |
53155-8 Asparagine+Ornithine [Moles/volume] in DBS
Part Descriptions
LP70082-0 Asparagine+Ornithine
Asparagine+Ornithine is a primary marker for Hyper ORN. Secondary marker for Hyperornithinemia-Hyperammonemia-Homocitrullinuria syndrome.
Source: Regenstrief LOINC
Observation Required in Panel
Conditional
Type of Entry
Question expects user entry - requires response [Q]
Fully-Specified Name
- Component
- Asparagine+Ornithine
- Property
- SCnc
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- Asn+Orn DBS-sCnc
- Display Name
- Asparagine+Ornithine (DBS) [Moles/Vol]
- Consumer Name Alpha Get Info
- Asparagine+Ornithine, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.24
- Last Updated
- Version 2.73
- Order vs. Observation
- Observation
- Common Test Rank Get Info
- 17405
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 53261-4 | Amino acid newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Asparragina + Ornitina: Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Asparagina + Ornitina: |
| et-EE | Estonian (Estonia) | Asparagiin + ornitiin: Synonyms: Aine kontsentratsioon Juhuslik Kvantitatiivne Veri |
| fr-CA | French (Canada) | Asparagine+Ornithine: |
| fr-FR | French (France) | Asparagine+ornithine: |
| fr-BE | French (Belgium) | Asparagine+Ornithine: |
| it-IT | Italian (Italy) | Asparagina+Ornitina: Synonyms: Chimica Concentrazione di Sostanza Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | asparagine + ornithine: |
| pt-BR | Portuguese (Brazil) | Asparagina+Ornitina: Synonyms: Orn; |
| ru-RU | Russian (Russian Federation) | Аспарагин+Орнитин: Synonyms: Количественный Кровь Кровь сухая капля Молярность; |
| tr-TR | Turkish (Turkey) | Asparajin+ornitin: |
| zh-CN | Chinese (China) | 天冬酰胺+鸟氨酸: Synonyms: 2,5-二氨基戊酸; |
Example Units
| Unit | Source |
|---|---|
| umol/L | Example UCUM Units |
53395-0 Asparagine+Ornithine/Serine [Molar ratio] in DBS
Part Descriptions
LP70082-0 Asparagine+Ornithine
Asparagine+Ornithine is a primary marker for Hyper ORN. Secondary marker for Hyperornithinemia-Hyperammonemia-Homocitrullinuria syndrome.
Source: Regenstrief LOINC
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Asparagine+Ornithine/Serine
- Property
- SRto
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- Asn+Orn/Serine DBS-sRto
- Display Name
- Asparagine+Ornithine/Serine (DBS) [Molar ratio]
- Consumer Name Alpha Get Info
- Asparagine+Ornithine/Serine, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.24
- Last Updated
- Version 2.70
- Order vs. Observation
- Observation
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 53261-4 | Amino acid newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Asparragina + Ornitina/Serina: Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Asparagina + Ornitina / Serina: |
| fr-CA | French (Canada) | Asparagine+Ornithine/Sérine: |
| fr-FR | French (France) | Asparagine+ornithine/sérine: |
| fr-BE | French (Belgium) | Asparagine+Ornithine/Sérine: |
| it-IT | Italian (Italy) | Asparagina+Ornitina/Serina: Synonyms: Chimica Punto nel tempo (episodio) Rapporto di sostanza Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | asparagine + ornithine/serine: |
| pt-BR | Portuguese (Brazil) | Asparagina+Ornitina/Serina: Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Аспарагин+Орнитин/Серин: Synonyms: Количественный Кровь Кровь сухая капля Мольная доля; |
| tr-TR | Turkish (Turkey) | Asparajin+ornitin/Serin: Synonyms: SubsOranı |
| zh-CN | Chinese (China) | 天冬酰胺+鸟氨酸/丝氨酸: Synonyms: 2,5-二氨基戊酸; |
Example Units
| Unit | Source |
|---|---|
| {Ratio} | Example UCUM Units |
53396-8 Asparagine+Ornithine/Phenylalanine [Molar ratio] in DBS
Part Descriptions
LP70082-0 Asparagine+Ornithine
Asparagine+Ornithine is a primary marker for Hyper ORN. Secondary marker for Hyperornithinemia-Hyperammonemia-Homocitrullinuria syndrome.
Source: Regenstrief LOINC
LP70160-4 Phenylalanine
Phenylalanine is an essential alpha-amino acid. It exists in two forms, a D and an L form, which are enantiomers (mirror-image molecules) of each other. It has a benzyl side chain and its name comes from its chemical structures that consists of a phenyl group substituted for one of the hydrogens in the side chain of alanine. Because of its phenyl group, phenylalanine is an aromatic compound that at room temperature exists as a white, powdery solid. L -phenylalanine (LPA) is an electrically-neutral amino acid and its enantiomer, D -phenylalanine (DPA), can be synthesized artificially. L -phenylalanine can also be converted into L -tyrosine, another one of the twenty protein-forming amino acids.
Copyright Text is available under the Creative Commons Attribution/Share-Alike License. See http://creativecommons.org/licenses/by-sa/3.0/ for details.
Source: Wikipedia, Phenylalanine (Wikipedia)
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Asparagine+Ornithine/Phenylalanine
- Property
- SRto
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- Asn+Orn/Phe DBS-sRto
- Display Name
- Asparagine+Ornithine/Phenylalanine (DBS) [Molar ratio]
- Consumer Name Alpha Get Info
- Asparagine+Ornithine/Phenylalanine, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.24
- Last Updated
- Version 2.70
- Order vs. Observation
- Observation
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 53261-4 | Amino acid newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Asparragina + Ornitina/Fenilalanina: Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Asparagina + Ornitina / Fenilalanina: |
| fr-CA | French (Canada) | Asparagine+Ornithine/Phénylalanine: |
| fr-FR | French (France) | Asparagine+ornithine/phénylalanine: |
| fr-BE | French (Belgium) | Asparagine+Ornithine/Phénylalanine: |
| it-IT | Italian (Italy) | Asparagina+Ornitina/Fenilalanina: Synonyms: Chimica Punto nel tempo (episodio) Rapporto di sostanza Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | asparagine + ornithine/fenylalanine: Synonyms: phenylalanine |
| pt-BR | Portuguese (Brazil) | Asparagina+Ornitina/Fenilalanina: Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Аспарагин+Орнитин/Фенилаланин: Synonyms: Количественный Кровь Кровь сухая капля Мольная доля; |
| tr-TR | Turkish (Turkey) | Asparajin+ornitin/Fenilalanin: Synonyms: SubsOranı |
| zh-CN | Chinese (China) | 天冬酰胺+鸟氨酸/苯丙氨酸: Synonyms: 2,5-二氨基戊酸; |
Example Units
| Unit | Source |
|---|---|
| {Ratio} | Example UCUM Units |
47573-1 Aspartate [Moles/volume] in DBS
Part Descriptions
LP15425-9 Aspartate
Aspartic acid (Asp), also known as aspartate, the name of its anion, is one of the 20 natural proteinogenic amino acids which are the building blocks of proteins. As with each of the 20 natural amino acids, there are two abbreviations commonly used to designate aspartic acid: Asp (three letter) and D (one letter). The abbreviations signifying a choice of either aspartic acid or asparagine are Asx (three-letter) and B (one letter). As its name indicates, aspartic acid is the carboxylic acid analog of asparagine. It is non-essential in mammals, and might serve as an excitatory neurotransmitter in the brain. It is also a metabolite in the urea cycle, and participates in gluconeogenesis. As a neurotransmitter, aspartic acid may provide resistance to fatigue and thus lead to endurance, although the evidence to support this idea is not strong.
Copyright Text is available under the Creative Commons Attribution/Share-Alike License. See http://creativecommons.org/licenses/by-sa/3.0/ for details.
Source: Wikipedia, Aspartate (Wikipedia)
LP15425-9 Aspartate
Aspartic acid is a dicarboxylic amino acid with acidic R groups which is a cosubstrate with glutamic acid for aspartate aminotransferase (AST). Aspartic acid is used in pyrimidine biosynthesis and is a metabolite in the urea cycle and participates in gluconeogenesis. Increased in dicarboxylic aminoaciduria. (Information from ARUP Laboratories 9/14/06)
Source: Regenstrief Institute
Observation Required in Panel
Conditional
Type of Entry
Question expects user entry - requires response [Q]
Fully-Specified Name
- Component
- Aspartate
- Property
- SCnc
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- Aspartate DBS-sCnc
- Display Name
- Aspartate (DBS) [Moles/Vol]
- Consumer Name Alpha Get Info
- Aspartate, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.21
- Last Updated
- Version 2.70
- Order vs. Observation
- Both
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 53261-4 | Amino acid newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Aspartato: Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Aspartato: |
| et-EE | Estonian (Estonia) | Aspartaat: Synonyms: Aine kontsentratsioon Juhuslik Kvantitatiivne Veri |
| fr-CA | French (Canada) | Aspartate: |
| fr-FR | French (France) | Aspartate: |
| fr-BE | French (Belgium) | Aspartate: |
| it-IT | Italian (Italy) | Aspartato: Synonyms: Chimica Concentrazione di Sostanza Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | aspartaat: |
| pt-BR | Portuguese (Brazil) | Aspartato: Synonyms: Asp; |
| ru-RU | Russian (Russian Federation) | Аспартат: Synonyms: Количественный Кровь Кровь сухая капля Молярность; |
| tr-TR | Turkish (Turkey) | Aspartat: |
| zh-CN | Chinese (China) | 天门冬氨酸: Synonyms: Asp; |
Example Units
| Unit | Source |
|---|---|
| umol/L | Example UCUM Units |
42892-0 Citrulline [Moles/volume] in DBS
Part Descriptions
LP15504-1 Citrulline
Citrulline is an alpha amino acid, produced from ornithine and carbamoyl phosphate during the urea cycle. Its name is derived from citrullus, the Latin word for watermelon, from which it was first isolated.
Copyright Text is available under the Creative Commons Attribution/Share-Alike License. See http://creativecommons.org/licenses/by-sa/3.0/ for details.
Source: Wikipedia, Citrulline (Wikipedia)
Observation Required in Panel
Conditional
Type of Entry
Question expects user entry - requires response [Q]
Fully-Specified Name
- Component
- Citrulline
- Property
- SCnc
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- Citrulline DBS-sCnc
- Display Name
- Citrulline (DBS) [Moles/Vol]
- Consumer Name Alpha Get Info
- Citrulline, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.16
- Last Updated
- Version 2.73
- Order vs. Observation
- Both
- Common Test Rank Get Info
- 16315
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 53261-4 | Amino acid newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| de-DE | German (Germany) | Citrullin: |
| de-AT | German (Austria) | Synonyms: Citrullin /Trockenblut |
| es-ES | Spanish (Spain) | Citrulina: Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Citrulina: |
| fr-CA | French (Canada) | Citrulline: |
| fr-FR | French (France) | Citrulline: |
| fr-BE | French (Belgium) | Citrulline: |
| it-IT | Italian (Italy) | Citrullina: Synonyms: Chimica Concentrazione di Sostanza Punto nel tempo (episodio) Sangue Spot sangue secco |
| ko-KR | Korean (Korea, Republic Of) | 시트룰린: |
| nl-NL | Dutch (Netherlands) | citrulline: |
| pt-BR | Portuguese (Brazil) | Citrulina: Synonyms: Cit; |
| ru-RU | Russian (Russian Federation) | Цитруллин: Synonyms: Количественный Кровь Кровь сухая капля Молярность; |
| tr-TR | Turkish (Turkey) | Sitrüllin: |
| zh-CN | Chinese (China) | 瓜氨酸: Synonyms: Citr 克分子浓度; |
Example Units
| Unit | Source |
|---|---|
| umol/L | Example UCUM Units |
54092-2 Citrulline/Arginine [Molar ratio] in DBS
Part Descriptions
LP15504-1 Citrulline
Citrulline is an alpha amino acid, produced from ornithine and carbamoyl phosphate during the urea cycle. Its name is derived from citrullus, the Latin word for watermelon, from which it was first isolated.
Copyright Text is available under the Creative Commons Attribution/Share-Alike License. See http://creativecommons.org/licenses/by-sa/3.0/ for details.
Source: Wikipedia, Citrulline (Wikipedia)
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Citrulline/Arginine
- Property
- SRto
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- Citrulline/Arginine DBS-sRto
- Display Name
- Citrulline/Arginine (DBS) [Molar ratio]
- Consumer Name Alpha Get Info
- Citrulline/Arginine, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.26
- Last Updated
- Version 2.73
- Order vs. Observation
- Observation
- Common Test Rank Get Info
- 15794
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 53261-4 | Amino acid newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Citrulina/Arginina: Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Citrulina / Arginina: |
| fr-CA | French (Canada) | Citrulline/Arginine: |
| fr-FR | French (France) | Citrulline/arginine: |
| fr-BE | French (Belgium) | Citrulline/Arginine: |
| it-IT | Italian (Italy) | Citrullina/Arginina: Synonyms: Chimica Punto nel tempo (episodio) Rapporto di sostanza Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | citrulline/arginine: |
| pt-BR | Portuguese (Brazil) | Citrulina/Arginina: Synonyms: Cit; |
| ru-RU | Russian (Russian Federation) | Цитруллин/Аргинин: Synonyms: Количественный Кровь Кровь сухая капля Мольная доля; |
| tr-TR | Turkish (Turkey) | Sitrüllin/Arjinin: Synonyms: SubsOranı |
| zh-CN | Chinese (China) | 瓜氨酸/精氨酸: Synonyms: 2-氨基-5-胍基戊酸 2-氨基-5-胍基戊酸; |
Example Units
| Unit | Source |
|---|---|
| {Ratio} | Example UCUM Units |
53157-4 Citrulline/Phenylalanine [Molar ratio] in DBS
Term Description
Citrulline/Phenylalanine is a primary marker for Citrullinemia type I, Tyrosinemia type II, Citrullinemia type II and Pyruvate carboxylase deficiency. Secondary marker for Carbamoyltransferase deficiency, Ornithine transcarbamylase deficiency, and Pyruvate carboxylase deficiency.
Source: Regenstrief LOINC
Part Descriptions
LP15504-1 Citrulline
Citrulline is an alpha amino acid, produced from ornithine and carbamoyl phosphate during the urea cycle. Its name is derived from citrullus, the Latin word for watermelon, from which it was first isolated.
Copyright Text is available under the Creative Commons Attribution/Share-Alike License. See http://creativecommons.org/licenses/by-sa/3.0/ for details.
Source: Wikipedia, Citrulline (Wikipedia)
LP70160-4 Phenylalanine
Phenylalanine is an essential alpha-amino acid. It exists in two forms, a D and an L form, which are enantiomers (mirror-image molecules) of each other. It has a benzyl side chain and its name comes from its chemical structures that consists of a phenyl group substituted for one of the hydrogens in the side chain of alanine. Because of its phenyl group, phenylalanine is an aromatic compound that at room temperature exists as a white, powdery solid. L -phenylalanine (LPA) is an electrically-neutral amino acid and its enantiomer, D -phenylalanine (DPA), can be synthesized artificially. L -phenylalanine can also be converted into L -tyrosine, another one of the twenty protein-forming amino acids.
Copyright Text is available under the Creative Commons Attribution/Share-Alike License. See http://creativecommons.org/licenses/by-sa/3.0/ for details.
Source: Wikipedia, Phenylalanine (Wikipedia)
Observation Required in Panel
Conditional
Type of Entry
Question expects user entry - requires response [Q]
Fully-Specified Name
- Component
- Citrulline/Phenylalanine
- Property
- SRto
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- Citrulline/Phe DBS-sRto
- Display Name
- Citrulline/Phenylalanine (DBS) [Molar ratio]
- Consumer Name Alpha Get Info
- Citrulline/Phenylalanine, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.24
- Last Updated
- Version 2.73
- Order vs. Observation
- Both
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 53261-4 | Amino acid newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Citrulina/Fenilalanina: Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Citrulina / Fenilalanina: |
| fr-CA | French (Canada) | Citrulline/Phénylalanine: |
| fr-FR | French (France) | Citrulline/phénylalanine: |
| fr-BE | French (Belgium) | Citrulline/Phénylalanine: |
| it-IT | Italian (Italy) | Citrullina/Fenilalanina: Synonyms: Chimica Punto nel tempo (episodio) Rapporto di sostanza Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | citrulline/fenylalanine: Synonyms: phenylalanine |
| pt-BR | Portuguese (Brazil) | Citrulina/Fenilalanina: Synonyms: Cit; |
| ru-RU | Russian (Russian Federation) | Цитруллин/Фенилаланин: Synonyms: Количественный Кровь Кровь сухая капля Мольная доля; |
| tr-TR | Turkish (Turkey) | Sitrüllin/Fenilalanin: Synonyms: SubsOranı |
| zh-CN | Chinese (China) | 瓜氨酸/苯丙氨酸: Synonyms: Citr Phe Phe; |
Example Units
| Unit | Source |
|---|---|
| {Ratio} | Example UCUM Units |
53399-2 Citrulline/Tyrosine [Molar ratio] in DBS
Part Descriptions
LP15504-1 Citrulline
Citrulline is an alpha amino acid, produced from ornithine and carbamoyl phosphate during the urea cycle. Its name is derived from citrullus, the Latin word for watermelon, from which it was first isolated.
Copyright Text is available under the Creative Commons Attribution/Share-Alike License. See http://creativecommons.org/licenses/by-sa/3.0/ for details.
Source: Wikipedia, Citrulline (Wikipedia)
LP32175-9 Tyrosine
Tyrosine (from the Greek tyros, meaning cheese, as it was first discovered in cheese[ citationneeded ]), 4-hydroxyphenylalanine, or 2-amino-3(4-hydroxyphenyl)-propanoic acid, is one of the 20 amino acids that are used by cells to synthesize proteins. It has a phenol side chain with a hydroxyl group. Upon the location of the hydroxyl group, there are three structural isomers of Tyr, namely para-Tyr (p-Tyr), meta-Tyr (m-Tyr) and ortho-Tyr (o-Tyr). Enzymatically, only the first isomer (p-Tyr) is produced from L-Phe by the Phe-hydroxylase enzyme. The other two isoforms, m-Tyr and o-Tyr can be produced as a consequence of free radical attack on Phe in states with increased oxidative stress.
Copyright Text is available under the Creative Commons Attribution/Share-Alike License. See http://creativecommons.org/licenses/by-sa/3.0/ for details.
Source: Wikipedia, Tyrosine (Wikipedia)
LP32175-9 Tyrosine
A non-essential amino acid. In animals it is synthesized from PHENYLALANINE. It is also the precursor of EPINEPHRINE; THYROID HORMONES; and melanin.
Source: National Library of Medicine, MeSH 2006
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Citrulline/Tyrosine
- Property
- SRto
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- Citrulline/Tyr DBS-sRto
- Display Name
- Citrulline/Tyrosine (DBS) [Molar ratio]
- Consumer Name Alpha Get Info
- Citrulline/Tyrosine, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.24
- Last Updated
- Version 2.73
- Order vs. Observation
- Observation
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 53261-4 | Amino acid newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Citrulina/Tirosina: Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Citrulina / Tirosina: |
| fr-CA | French (Canada) | Citrulline/Tyrosine: |
| fr-FR | French (France) | Citrulline/tyrosine: |
| fr-BE | French (Belgium) | Citrulline/Tyrosine: |
| it-IT | Italian (Italy) | Citrullina/Tirosina: Synonyms: Chimica Punto nel tempo (episodio) Rapporto di sostanza Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | citrulline/tyrosine: |
| pt-BR | Portuguese (Brazil) | Citrulina/Tirosina: Synonyms: Cit; |
| ru-RU | Russian (Russian Federation) | Цитруллин/Тирозин: Synonyms: Количественный Кровь Кровь сухая капля Мольная доля; |
| tr-TR | Turkish (Turkey) | Sitrüllin/Tirozin: Synonyms: SubsOranı |
| zh-CN | Chinese (China) | 瓜氨酸/酪氨酸: Synonyms: 3-对羟苯基丙氨酸; |
Example Units
| Unit | Source |
|---|---|
| {Ratio} | Example UCUM Units |
47623-4 Glutamate [Moles/volume] in DBS
Part Descriptions
LP15605-6 Glutamate
Glutamic acid (Glu), also referred to as glutamate (the anion), is one of the 20 proteinogenic, essential amino acids.
Copyright Text is available under the Creative Commons Attribution/Share-Alike License. See http://creativecommons.org/licenses/by-sa/3.0/ for details.
Source: Wikipedia, Glutamate (Wikipedia)
Observation Required in Panel
Conditional
Type of Entry
Question expects user entry - requires response [Q]
Fully-Specified Name
- Component
- Glutamate
- Property
- SCnc
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- Glutamate DBS-sCnc
- Display Name
- Glutamate (DBS) [Moles/Vol]
- Consumer Name Alpha Get Info
- Glutamate, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.21
- Last Updated
- Version 2.70
- Order vs. Observation
- Both
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 53261-4 | Amino acid newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Glutamato: Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Glutamato: |
| et-EE | Estonian (Estonia) | Glutamaat: Synonyms: Aine kontsentratsioon Juhuslik Kvantitatiivne Veri |
| fr-CA | French (Canada) | Glutamate: |
| fr-FR | French (France) | Glutamate: |
| fr-BE | French (Belgium) | Glutamate: |
| it-IT | Italian (Italy) | Glutammato: Synonyms: Chimica Concentrazione di Sostanza Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | glutamaat: |
| pt-BR | Portuguese (Brazil) | Glutamato: Synonyms: Glu; |
| ru-RU | Russian (Russian Federation) | Глутамат: Synonyms: Количественный Кровь Кровь сухая капля Молярность; |
| tr-TR | Turkish (Turkey) | Glutamat: |
| zh-CN | Chinese (China) | 谷氨酸: Synonyms: Glu 克分子浓度; |
Example Units
| Unit | Source |
|---|---|
| umol/L | Example UCUM Units |
47633-3 Glycine [Moles/volume] in DBS
Part Descriptions
LP15620-5 Glycine
A non-essential amino acid found primarily in gelatin and silk fibroin. It also inhibits neurotransmitters.
Source: National Library of Medicine, MeSH 2006
LP15620-5 Glycine
Glycine is a hydrophilic amino acid with uncharged polar groups and is used in the biosynthesis of purines and porphyrins. Increased with nonketotic hyperglycinemia, arginosuccinic aciduria, carbamoyl phosphate synthetase deficiency, lysinuric protein intolerance, hyperprolinemia, iminoglycinuria, and ornithine transcarbamylase deficiency.
Source: Regenstrief Institute
Observation Required in Panel
Conditional
Type of Entry
Question expects user entry - requires response [Q]
Fully-Specified Name
- Component
- Glycine
- Property
- SCnc
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- Glycine DBS-sCnc
- Display Name
- Glycine (DBS) [Moles/Vol]
- Consumer Name Alpha Get Info
- Glycine, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.21
- Last Updated
- Version 2.73
- Order vs. Observation
- Both
- Common Test Rank Get Info
- 19175
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 53261-4 | Amino acid newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| de-AT | German (Austria) | Synonyms: Glycin /Trockenblut |
| es-ES | Spanish (Spain) | Glicina: Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Glicina: |
| et-EE | Estonian (Estonia) | Glütsiin: Synonyms: Aine kontsentratsioon Juhuslik Kvantitatiivne Veri |
| fr-CA | French (Canada) | Glycine: |
| fr-FR | French (France) | Glycine: |
| fr-BE | French (Belgium) | Glycine: |
| it-IT | Italian (Italy) | Glicina: Synonyms: Chimica Concentrazione di Sostanza Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | glycine: |
| pt-BR | Portuguese (Brazil) | Glicina: Synonyms: Gly; |
| ru-RU | Russian (Russian Federation) | Глицин: Synonyms: Количественный Кровь Кровь сухая капля Молярность; |
| tr-TR | Turkish (Turkey) | Glisin: |
| zh-CN | Chinese (China) | 甘氨酸: Synonyms: Gly; |
Example Units
| Unit | Source |
|---|---|
| umol/L | Example UCUM Units |
93488-5 Guanidinoacetate [Moles/volume] in DBS
Part Descriptions
LP30825-1 Guanidinoacetate
Guanidinoacetate is the immediate precursor of creatine. Guanidinoacetate methyltransferase (GAMT) is the enzyme responsible for converting guanidinoacetate to creatine, and GAMT deficiency causes is a rare, autosomal recessive disorder whose manifestations include seizures, developmental delay, learning difficulties, and autism. Motor function is relatively spared. GAMT deficiency leads to elevated levels of plasma and urine guanidinoacetate, and low plasma creatine and creatinine levels. Elevated levels of guanidinoacetate in the brain are one cause of seizures in patients with GAMT deficiency. The primary treatment is creatine supplementation, which may be combined with ornithine supplementation and arginine restriction. Early diagnosis and treatment may prevent organ damage and preserve cognitive function. If the diagnosis does not occur early and brain damage has already occurred at the time of diagnosis, creatine supplementation can still help control seizures and improve quality of life. PMID: 28119378
Source: Regenstrief LOINC
Fully-Specified Name
- Component
- Guanidinoacetate
- Property
- SCnc
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- Guanidinoacetate DBS-sCnc
- Display Name
- Guanidinoacetate (DBS) [Moles/Vol]
- Consumer Name Alpha Get Info
- Guanidinoacetate, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.67
- Last Updated
- Version 2.67
- Order vs. Observation
- Both
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 53261-4 | Amino acid newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-MX | Spanish (Mexico) | Guanidinoacetato: |
| es-ES | Spanish (Spain) | Guanidinoacetato: Synonyms: Cuantitativo |
| et-EE | Estonian (Estonia) | Guanidinoatsetaat: Synonyms: Aine kontsentratsioon Juhuslik Kvantitatiivne Veri |
| fr-FR | French (France) | Guanidinoacétate: |
| fr-BE | French (Belgium) | Guanidinoacétate: |
| fr-CA | French (Canada) | Guanidinoacétate: |
| it-IT | Italian (Italy) | Guanidinoacetato: Synonyms: Chimica Concentrazione di Sostanza Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | guanidinoacetaat: |
| ru-RU | Russian (Russian Federation) | Гуанидинацетат: Synonyms: Количественный Кровь Кровь сухая капля Молярность; |
| tr-TR | Turkish (Turkey) | Guanidinoasetat: |
| zh-CN | Chinese (China) | 胍基乙酸: Synonyms: GAA; |
Example Units
| Unit | Source |
|---|---|
| umol/L | Example UCUM Units |
47643-2 Histidine [Moles/volume] in DBS
Part Descriptions
LP15637-9 Histidine
An essential amino acid that is required for the synthesis of histamine.
Source: National Library of Medicine, MeSH 2006
LP15637-9 Histidine
Histidine is one of the 20 naturally occuring amino acids with basic R groups. It serves as a precursor for histamine and carnosine biosynthesis. Its levels are increased with histidinemia and formiminoglutamic aciduria. (Information from ARUP Laboratories 9/14/06). Common dietary sources of histidine are: apples, pomogranates, alfalfa, beets, carrots, celery, cucumber, dandelion, endive, garlic, radish, spinach, and turnip greens.
Source: Regenstrief Institute
Observation Required in Panel
Conditional
Type of Entry
Question expects user entry - requires response [Q]
Fully-Specified Name
- Component
- Histidine
- Property
- SCnc
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- Histidine DBS-sCnc
- Display Name
- Histidine (DBS) [Moles/Vol]
- Consumer Name Alpha Get Info
- Histidine, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.21
- Last Updated
- Version 2.70
- Order vs. Observation
- Both
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 53261-4 | Amino acid newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Histidina: Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Histidina: |
| et-EE | Estonian (Estonia) | Histidiin: Synonyms: Aine kontsentratsioon Juhuslik Kvantitatiivne Veri |
| fr-CA | French (Canada) | Histidine: |
| fr-FR | French (France) | Histidine: |
| fr-BE | French (Belgium) | Histidine: |
| it-IT | Italian (Italy) | Istidina: Synonyms: Chimica Concentrazione di Sostanza Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | histidine: |
| pt-BR | Portuguese (Brazil) | Histidina: Synonyms: His; |
| ru-RU | Russian (Russian Federation) | Гистидин: Synonyms: Количественный Кровь Кровь сухая капля Молярность; |
| tr-TR | Turkish (Turkey) | Histidin: |
| zh-CN | Chinese (China) | 组氨酸: Synonyms: His; |
Example Units
| Unit | Source |
|---|---|
| umol/L | Example UCUM Units |
53158-2 Homocitrulline [Moles/volume] in DBS
Part Descriptions
LP15640-3 Homocitrulline
Homocitrulline is a primary marker for Hyperornithinemia-Hyperammonemia-Homocitrullinuria. Secondary marker for Short-chain L-3-hydroxy acyl-CoA dehydrogenase deficiency.
Source: Regenstrief Institute
Observation Required in Panel
Conditional
Type of Entry
Question expects user entry - requires response [Q]
Fully-Specified Name
- Component
- Homocitrulline
- Property
- SCnc
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- Homocitrulline DBS-sCnc
- Display Name
- Homocitrulline (DBS) [Moles/Vol]
- Consumer Name Alpha Get Info
- Homocitrulline, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.24
- Last Updated
- Version 2.70
- Order vs. Observation
- Both
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 53261-4 | Amino acid newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Homocitrulina: Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Homocitrulina: |
| et-EE | Estonian (Estonia) | Homotsitruliin: Synonyms: Aine kontsentratsioon Juhuslik Kvantitatiivne Veri |
| fr-CA | French (Canada) | Homocitrulline: |
| fr-FR | French (France) | Homocitrulline: |
| fr-BE | French (Belgium) | Homocitrulline: |
| it-IT | Italian (Italy) | Omocitrullina: Synonyms: Chimica Concentrazione di Sostanza Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | homocitrulline: |
| pt-BR | Portuguese (Brazil) | Homocitrulina: Synonyms: Hci; |
| ru-RU | Russian (Russian Federation) | Гомоцитруллин: Synonyms: Количественный Кровь Кровь сухая капля Молярность; |
| tr-TR | Turkish (Turkey) | Homositrüllin: |
| zh-CN | Chinese (China) | 同型瓜氨酸: Synonyms: Hci 克分子浓度; |
Example Units
| Unit | Source |
|---|---|
| umol/L | Example UCUM Units |
47689-5 Lysine [Moles/volume] in DBS
Part Descriptions
LP15716-1 Lysine
An essential amino acid often added to animal feed.
Source: National Library of Medicine, MeSH 2006
LP15716-1 Lysine
Lysine is an essential basic amino acid that plays a major role in calcium absorption and the production of hormones, enzymes, and antibodies. Lack of lysine can result in niacin deficiency and cause the pellagra. Other diseases associated with lysine include hyperlysinemia, lysine intolerance, carbamoyl phosphate synthetase deficiency, and saccharopinuria (saccharopine is an intermediate in the metabolism of lysine).
Source: Regenstrief Institute
Observation Required in Panel
Conditional
Type of Entry
Question expects user entry - requires response [Q]
Fully-Specified Name
- Component
- Lysine
- Property
- SCnc
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- Lysine DBS-sCnc
- Display Name
- Lysine (DBS) [Moles/Vol]
- Consumer Name Alpha Get Info
- Lysine, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.21
- Last Updated
- Version 2.70
- Order vs. Observation
- Both
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 53261-4 | Amino acid newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Lisina: Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Lisina: |
| et-EE | Estonian (Estonia) | Lüsiin: Synonyms: Aine kontsentratsioon Juhuslik Kvantitatiivne Veri |
| fr-CA | French (Canada) | Lysine: |
| fr-FR | French (France) | Lysine: |
| fr-BE | French (Belgium) | Lysine: |
| it-IT | Italian (Italy) | Lisina: Synonyms: Chimica Concentrazione di Sostanza Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | lysine: |
| pt-BR | Portuguese (Brazil) | Lisina: Synonyms: Lys; |
| ru-RU | Russian (Russian Federation) | Лизин: Synonyms: Количественный Кровь Кровь сухая капля Молярность; |
| tr-TR | Turkish (Turkey) | Lizin: |
| zh-CN | Chinese (China) | 赖氨酸: Synonyms: 2,6-二氨基已酸; |
Example Units
| Unit | Source |
|---|---|
| umol/L | Example UCUM Units |
47700-0 Methionine [Moles/volume] in DBS
Part Descriptions
LP15730-2 Methionine
Methionine is an essential nonpolar amino acid, and a lipotropic. Methionine and cysteine are the only sulfur-containing proteinogenic amino acids. The methionine derivative S-adenosyl methionine (SAM) serves as a methyl donor. Methionine plays a role in cysteine, carnitine and taurine synthesis by the transsulfuration pathway, lecithin production, the synthesis of phosphatidylcholine and other phospholipids. Improper conversion of methionine can lead to atherosclerosis. Methionine, a chelating agent, is one of only two amino acids encoded by a single codon (AUG) in the standard genetic code (tryptophan, encoded by UGG, is the other). The codon AUG is also significant, in that it carries the Start message for a ribosome to begin protein translation from mRNA. As a consequence, methionine is incorporated into the N-terminal position of all proteins in eukaryotes and archaea during translation, although it is usually removed by post-translational modification.
Copyright Text is available under the Creative Commons Attribution/Share-Alike License. See http://creativecommons.org/licenses/by-sa/3.0/ for details.
Source: Wikipedia, Methionine (Wikipedia)
Observation Required in Panel
Conditional
Type of Entry
Question expects user entry - requires response [Q]
Fully-Specified Name
- Component
- Methionine
- Property
- SCnc
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- Methionine DBS-sCnc
- Display Name
- Methionine (DBS) [Moles/Vol]
- Consumer Name Alpha Get Info
- Methionine, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.21
- Last Updated
- Version 2.73
- Order vs. Observation
- Both
- Common Test Rank Get Info
- 16316
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 53261-4 | Amino acid newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
| 94573-3 | Tyrosinemia newborn screening follow-up and therapeutic monitoring panel - DBS |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| de-AT | German (Austria) | Synonyms: Methionin /Trockenblut |
| es-ES | Spanish (Spain) | Metionina: Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Metionina: |
| et-EE | Estonian (Estonia) | Metioniin: Synonyms: Aine kontsentratsioon Juhuslik Kvantitatiivne Veri |
| fr-CA | French (Canada) | Méthionine: |
| fr-FR | French (France) | Méthionine: |
| fr-BE | French (Belgium) | Méthionine: |
| it-IT | Italian (Italy) | Metionina: Synonyms: Chimica Concentrazione di Sostanza Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | methionine: |
| pt-BR | Portuguese (Brazil) | Metionina: Synonyms: Met; |
| ru-RU | Russian (Russian Federation) | Метионин: Synonyms: Количественный Кровь Кровь сухая капля Молярность; |
| tr-TR | Turkish (Turkey) | Metiyonin: |
| uk-UA | Ukrainian (Ukraine) | Метіонін: Synonyms: Blood; |
| zh-CN | Chinese (China) | 蛋氨酸: Synonyms: Met; |
Example Units
| Unit | Source |
|---|---|
| umol/L | Example UCUM Units |
53397-6 Methionine/Alloisoleucine+Isoleucine+Leucine+Hydroxyproline [Molar ratio] in DBS
Part Descriptions
LP15730-2 Methionine
Methionine is an essential nonpolar amino acid, and a lipotropic. Methionine and cysteine are the only sulfur-containing proteinogenic amino acids. The methionine derivative S-adenosyl methionine (SAM) serves as a methyl donor. Methionine plays a role in cysteine, carnitine and taurine synthesis by the transsulfuration pathway, lecithin production, the synthesis of phosphatidylcholine and other phospholipids. Improper conversion of methionine can lead to atherosclerosis. Methionine, a chelating agent, is one of only two amino acids encoded by a single codon (AUG) in the standard genetic code (tryptophan, encoded by UGG, is the other). The codon AUG is also significant, in that it carries the Start message for a ribosome to begin protein translation from mRNA. As a consequence, methionine is incorporated into the N-terminal position of all proteins in eukaryotes and archaea during translation, although it is usually removed by post-translational modification.
Copyright Text is available under the Creative Commons Attribution/Share-Alike License. See http://creativecommons.org/licenses/by-sa/3.0/ for details.
Source: Wikipedia, Methionine (Wikipedia)
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Methionine/Alloisoleucine+Isoleucine+Leucine+Hydroxyproline
- Property
- SRto
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- Methionine/Aile+Ile+Leu+Hyp DBS-sRto
- Display Name
- Methionine/Alloisoleucine+Isoleucine+Leucine+Hydroxyproline (DBS) [Molar ratio]
- Consumer Name Alpha Get Info
- Methionine/Alloisoleucine+Isoleucine+Leucine+Hydroxyproline, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.24
- Last Updated
- Version 2.73
- Order vs. Observation
- Observation
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 53261-4 | Amino acid newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Metionina/Aloisoleucina + Isoleucina + Leucina + Hidroxiprolina: Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Metionina / Aloisoleucina + Isoleucina + Leucina + Hidroxiprolina: |
| fr-CA | French (Canada) | Méthionine/Alloisoleucine+Isoleucine+Leucine+Hydroxyproline: |
| fr-FR | French (France) | Méthionine/alloisoleucine+isoleucine+leucine+hydroxyproline: |
| fr-BE | French (Belgium) | Méthionine/Alloisoleucine+Isoleucine+Leucine+Hydroxyproline: Synonyms: OH-Proline |
| it-IT | Italian (Italy) | Metionina/Alloisoleucina+Isoleucina+Leucina+Idrossiprolina: Synonyms: Chimica Punto nel tempo (episodio) Rapporto di sostanza Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | methionine/allo-isoleucine + isoleucine + leucine + hydroxyproline: |
| pt-BR | Portuguese (Brazil) | Metionina/Aloisoleucina+Isoleucina+Leucina+Hidroxiprolina: Synonyms: Met; |
| ru-RU | Russian (Russian Federation) | Метионин/Аллоизолейцин+Изолейцин+Лейцин+Гидроксипролин: Synonyms: Количественный Кровь Кровь сухая капля Мольная доля; |
| tr-TR | Turkish (Turkey) | Metiyonin/Alloizolösin+İzolösin+Lösin+Hidroksiprolin: Synonyms: SubsOranı |
| zh-CN | Chinese (China) | 蛋氨酸/别异亮氨酸+异亮氨酸+亮氨酸+羟脯氨酸: Synonyms: Hyp; |
Example Units
| Unit | Source |
|---|---|
| {Ratio} | Example UCUM Units |
53156-6 Methionine/Phenylalanine [Molar ratio] in DBS
Term Description
Methionine/Phenylalanine is a primary marker for Homocystinuria, Hypermethioninemia, Methylene tetrahydrofolate reductase deficiency, Methylcobalamin deficiency and Homocystinuria-megaloblastic anemia. Secondary marker for Methylmalonic aciduria and homocystinuria.
Source: Regenstrief LOINC
Part Descriptions
LP15730-2 Methionine
Methionine is an essential nonpolar amino acid, and a lipotropic. Methionine and cysteine are the only sulfur-containing proteinogenic amino acids. The methionine derivative S-adenosyl methionine (SAM) serves as a methyl donor. Methionine plays a role in cysteine, carnitine and taurine synthesis by the transsulfuration pathway, lecithin production, the synthesis of phosphatidylcholine and other phospholipids. Improper conversion of methionine can lead to atherosclerosis. Methionine, a chelating agent, is one of only two amino acids encoded by a single codon (AUG) in the standard genetic code (tryptophan, encoded by UGG, is the other). The codon AUG is also significant, in that it carries the Start message for a ribosome to begin protein translation from mRNA. As a consequence, methionine is incorporated into the N-terminal position of all proteins in eukaryotes and archaea during translation, although it is usually removed by post-translational modification.
Copyright Text is available under the Creative Commons Attribution/Share-Alike License. See http://creativecommons.org/licenses/by-sa/3.0/ for details.
Source: Wikipedia, Methionine (Wikipedia)
LP70160-4 Phenylalanine
Phenylalanine is an essential alpha-amino acid. It exists in two forms, a D and an L form, which are enantiomers (mirror-image molecules) of each other. It has a benzyl side chain and its name comes from its chemical structures that consists of a phenyl group substituted for one of the hydrogens in the side chain of alanine. Because of its phenyl group, phenylalanine is an aromatic compound that at room temperature exists as a white, powdery solid. L -phenylalanine (LPA) is an electrically-neutral amino acid and its enantiomer, D -phenylalanine (DPA), can be synthesized artificially. L -phenylalanine can also be converted into L -tyrosine, another one of the twenty protein-forming amino acids.
Copyright Text is available under the Creative Commons Attribution/Share-Alike License. See http://creativecommons.org/licenses/by-sa/3.0/ for details.
Source: Wikipedia, Phenylalanine (Wikipedia)
Observation Required in Panel
Conditional
Type of Entry
Question expects user entry - requires response [Q]
Fully-Specified Name
- Component
- Methionine/Phenylalanine
- Property
- SRto
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- Methionine/Phe DBS-sRto
- Display Name
- Methionine/Phenylalanine (DBS) [Molar ratio]
- Consumer Name Alpha Get Info
- Methionine/Phenylalanine, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.24
- Last Updated
- Version 2.73
- Order vs. Observation
- Both
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 53261-4 | Amino acid newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| de-DE | German (Germany) | Methionin/Phenylalanin: |
| es-ES | Spanish (Spain) | Metionina/Fenilalanina: Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Metionina / Fenilalanina: |
| fr-CA | French (Canada) | Méthionine/Phénylalanine: |
| fr-FR | French (France) | Méthionine/phénylalanine: |
| fr-BE | French (Belgium) | Méthionine/Phénylalanine: |
| it-IT | Italian (Italy) | Metionina/Fenilalanina: Synonyms: Chimica Punto nel tempo (episodio) Rapporto di sostanza Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | methionine/fenylalanine: Synonyms: phenylalanine |
| pt-BR | Portuguese (Brazil) | Metionina/Fenilalanina: Synonyms: Met; |
| ru-RU | Russian (Russian Federation) | Метионин/Фенилаланин: Synonyms: Количественный Кровь Кровь сухая капля Мольная доля; |
| tr-TR | Turkish (Turkey) | Metiyonin/Fenilalanin: Synonyms: SubsOranı |
| zh-CN | Chinese (China) | 蛋氨酸/苯丙氨酸: Synonyms: Met; |
Example Units
| Unit | Source |
|---|---|
| {Ratio} | Example UCUM Units |
75215-4 Ornithine/Citrulline [Molar ratio] in DBS
Term Description
Ornithine/Citrulline is a marker for gyrate atrophy of the retina, ornithine transcarbamylase deficiency, carbamoyl-phosphate synthase deficiency, and hyperornithinemia-hyperammonemia-homocitrullinuria syndrome, which are all conditions that some states include on their newborn screening panel.
Source: Regenstrief LOINC
Part Descriptions
LP15753-4 Ornithine
Ornithine is an amino acid that, under the action of the enzyme arginase on L-arginine, yields urea. Therefore, ornithine is a central part of the urea cycle, which eliminates excess nitrogen. Ornithine is not an amino acid coded by DNA, and in that sense, it is not involved in protein synthesis. In mammalian non-hepatic tissues, however, the urea cycle is mainly involved in arginine biosynthesis, making ornithine an important metabolic process. It is not directly a product of the the genetic code because polypeptides containing unprotected ornithines undergo spontaneous lactamization. This proved to be a problem when ornithine was originally classified among the other 20 naturally occuring amino acids.
Copyright Text is available under the Creative Commons Attribution/Share-Alike License. See http://creativecommons.org/licenses/by-sa/3.0/ for details.
Source: Wikipedia, Ornithine (Wikipedia)
LP15753-4 Ornithine
An amino acid produced in the urea cycle when the enzyme arginase cleaves off urea from arginine.
Source: National Library of Medicine, MeSH 2006
LP70358-4 Citrulline
Citrulline is an alpha amino acid, produced from ornithine and carbamoyl phosphate during the urea cycle. Its name is derived from citrullus, the Latin word for watermelon, from which it was first isolated.
Copyright Text is available under the Creative Commons Attribution/Share-Alike License. See http://creativecommons.org/licenses/by-sa/3.0/ for details.
Source: Wikipedia, Citrulline (Wikipedia)
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Ornithine/Citrulline
- Property
- SRto
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- Ornithine/Cit DBS-sRto
- Display Name
- Ornithine/Citrulline (DBS) [Molar ratio]
- Consumer Name Alpha Get Info
- Ornithine/Citrulline, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.48
- Last Updated
- Version 2.73
- Order vs. Observation
- Both
- Common Test Rank Get Info
- 19291
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 53261-4 | Amino acid newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Ornitina/Citrulina: Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Ornitina / Citrulina: |
| fr-CA | French (Canada) | Ornithine/Citrulline: |
| fr-FR | French (France) | Ornithine/citrulline: |
| fr-BE | French (Belgium) | Ornithine/Citrulline: |
| it-IT | Italian (Italy) | Ornitina/Citrullina: Synonyms: Chimica Punto nel tempo (episodio) Rapporto di sostanza Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | ornithine/citrulline: |
| pt-BR | Portuguese (Brazil) | Ornitina/Citrulina: |
| ru-RU | Russian (Russian Federation) | Орнитин/Цитруллин: Synonyms: Количественный Кровь Кровь сухая капля Мольная доля; |
| tr-TR | Turkish (Turkey) | Ornitin/Sitrüllin: Synonyms: SubsOranı |
| zh-CN | Chinese (China) | 鸟氨酸/瓜氨酸: Synonyms: 2,5-二氨基戊酸; |
Example Units
| Unit | Source |
|---|---|
| {ratio} | Example UCUM Units |
29573-3 Phenylalanine [Moles/volume] in DBS
Part Descriptions
LP15792-2 Phenylalanine
Phenylalanine is an essential alpha-amino acid. It exists in two forms, a D and an L form, which are enantiomers (mirror-image molecules) of each other. It has a benzyl side chain and its name comes from its chemical structures that consists of a phenyl group substituted for one of the hydrogens in the side chain of alanine. Because of its phenyl group, phenylalanine is an aromatic compound that at room temperature exists as a white, powdery solid. L -phenylalanine (LPA) is an electrically-neutral amino acid and its enantiomer, D -phenylalanine (DPA), can be synthesized artificially. L -phenylalanine can also be converted into L -tyrosine, another one of the twenty protein-forming amino acids.
Copyright Text is available under the Creative Commons Attribution/Share-Alike License. See http://creativecommons.org/licenses/by-sa/3.0/ for details.
Source: Wikipedia, Phenylalanine (Wikipedia)
Observation Required in Panel
Conditional
Type of Entry
Question expects user entry - requires response [Q]
Fully-Specified Name
- Component
- Phenylalanine
- Property
- SCnc
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- Phe DBS-sCnc
- Display Name
- Phenylalanine (DBS) [Moles/Vol]
- Consumer Name Alpha Get Info
- Phenylalanine, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.03
- Last Updated
- Version 2.73
- Order vs. Observation
- Both
- Common Test Rank Get Info
- 4629
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 53261-4 | Amino acid newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
| 79621-9 | Phenylalanine and Tyrosine panel - DBS |
| 94573-3 | Tyrosinemia newborn screening follow-up and therapeutic monitoring panel - DBS |
Member of these Groups Get Info
| LOINC Group | Group Name |
|---|---|
| LG49958-8 | Phenylalanine| |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| de-AT | German (Austria) | Synonyms: Phenylalanin /Trockenblut |
| de-DE | German (Germany) | Phenylalanin: |
| es-ES | Spanish (Spain) | Fenilalanina: Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Fenilalanina: |
| es-AR | Spanish (Argentina) | fenilalanina: |
| et-EE | Estonian (Estonia) | Fenüülalaniin: Synonyms: Aine kontsentratsioon Juhuslik Kvantitatiivne Veri |
| fr-CA | French (Canada) | Phénylalanine: |
| fr-FR | French (France) | Phénylalanine: |
| fr-BE | French (Belgium) | Phénylalanine: |
| it-IT | Italian (Italy) | Fenilalanina: Synonyms: Chimica Concentrazione di Sostanza Punto nel tempo (episodio) Sangue Spot sangue secco |
| ko-KR | Korean (Korea, Republic Of) | 페닐알라닌: |
| nl-NL | Dutch (Netherlands) | fenylalanine: |
| pl-PL | Polish (Poland) | Fenyloalanina: |
| pt-BR | Portuguese (Brazil) | Fenilalanina: Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Фенилаланин: Synonyms: Количественный Кровь Кровь сухая капля Молярность; |
| tr-TR | Turkish (Turkey) | Fenilalanin: |
| uk-UA | Ukrainian (Ukraine) | Фенілаланін: Synonyms: Blood; |
| zh-CN | Chinese (China) | 苯丙氨酸: Synonyms: Phe; |
Example Units
| Unit | Source |
|---|---|
| umol/L | Example UCUM Units |
| mmol/L | eCHN |
35572-7 Phenylalanine/Tyrosine [Molar ratio] in DBS
Part Descriptions
LP15792-2 Phenylalanine
Phenylalanine is an essential alpha-amino acid. It exists in two forms, a D and an L form, which are enantiomers (mirror-image molecules) of each other. It has a benzyl side chain and its name comes from its chemical structures that consists of a phenyl group substituted for one of the hydrogens in the side chain of alanine. Because of its phenyl group, phenylalanine is an aromatic compound that at room temperature exists as a white, powdery solid. L -phenylalanine (LPA) is an electrically-neutral amino acid and its enantiomer, D -phenylalanine (DPA), can be synthesized artificially. L -phenylalanine can also be converted into L -tyrosine, another one of the twenty protein-forming amino acids.
Copyright Text is available under the Creative Commons Attribution/Share-Alike License. See http://creativecommons.org/licenses/by-sa/3.0/ for details.
Source: Wikipedia, Phenylalanine (Wikipedia)
LP32175-9 Tyrosine
Tyrosine (from the Greek tyros, meaning cheese, as it was first discovered in cheese[ citationneeded ]), 4-hydroxyphenylalanine, or 2-amino-3(4-hydroxyphenyl)-propanoic acid, is one of the 20 amino acids that are used by cells to synthesize proteins. It has a phenol side chain with a hydroxyl group. Upon the location of the hydroxyl group, there are three structural isomers of Tyr, namely para-Tyr (p-Tyr), meta-Tyr (m-Tyr) and ortho-Tyr (o-Tyr). Enzymatically, only the first isomer (p-Tyr) is produced from L-Phe by the Phe-hydroxylase enzyme. The other two isoforms, m-Tyr and o-Tyr can be produced as a consequence of free radical attack on Phe in states with increased oxidative stress.
Copyright Text is available under the Creative Commons Attribution/Share-Alike License. See http://creativecommons.org/licenses/by-sa/3.0/ for details.
Source: Wikipedia, Tyrosine (Wikipedia)
LP32175-9 Tyrosine
A non-essential amino acid. In animals it is synthesized from PHENYLALANINE. It is also the precursor of EPINEPHRINE; THYROID HORMONES; and melanin.
Source: National Library of Medicine, MeSH 2006
Observation Required in Panel
Conditional
Type of Entry
Question expects user entry - requires response [Q]
Fully-Specified Name
- Component
- Phenylalanine/Tyrosine
- Property
- SRto
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- Phe/Tyr DBS-sRto
- Display Name
- Phenylalanine/Tyrosine (DBS) [Molar ratio]
- Consumer Name Alpha Get Info
- Phenylalanine/Tyrosine, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.13
- Last Updated
- Version 2.73
- Order vs. Observation
- Observation
- Common Test Rank Get Info
- 3731
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 53261-4 | Amino acid newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Fenilalanina/Tirosina: Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Fenilalanina / Tirosina: |
| es-AR | Spanish (Argentina) | fenilalanina/tirosina: |
| fr-CA | French (Canada) | Phénylalanine/Tyrosine: |
| fr-FR | French (France) | Phénylalanine/tyrosine: |
| fr-BE | French (Belgium) | Phénylalanine/Tyrosine: |
| it-IT | Italian (Italy) | Fenilalanina/Tirosina: Synonyms: Chimica Punto nel tempo (episodio) Rapporto di sostanza Sangue Spot sangue secco |
| ko-KR | Korean (Korea, Republic Of) | 페닐알라닌/티로신: |
| nl-NL | Dutch (Netherlands) | fenylalanine/tyrosine: |
| pl-PL | Polish (Poland) | Fenyloalanina/tyrozyna: |
| pt-BR | Portuguese (Brazil) | Fenilalanina/Tirosina: Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Фенилаланин/Тирозин: Synonyms: Количественный Кровь Кровь сухая капля Мольная доля; |
| tr-TR | Turkish (Turkey) | Fenilalanin/Tirozin: Synonyms: SubsOranı |
| zh-CN | Chinese (China) | 苯丙氨酸/酪氨酸: Synonyms: 3-对羟苯基丙氨酸; |
Example Units
| Unit | Source |
|---|---|
| {Ratio} | Example UCUM Units |
47732-3 Proline [Moles/volume] in DBS
Part Descriptions
LP15818-5 Proline
L-Proline is one of the twenty proteinogenic units used in the building blocks of proteins. The other nineteen units are all primary amino acids, but due to the cyclic binding of the three-carbon side chain to the nitrogen of the backbone, proline lacks a primary amine group (ˆ'NH2). The nitrogen in proline is referred to as a secondary amine. Proline is sometimes called an amino acid, although the IUPAC definition of an amine requires a carbon-nitrogen double bond.
Copyright Text is available under the Creative Commons Attribution/Share-Alike License. See http://creativecommons.org/licenses/by-sa/3.0/ for details.
Source: Wikipedia, Proline (Wikipedia)
LP15818-5 Proline
Proline is an amino acid that is the cyclized form of glutamic acid. The hydroxylation of proline increases the stability of collagen and is critical for maintaining connective tissue. Increased with iminoglycinuria,Type I and II hyperprolinemia, and lysinuric protein intolerance.
Source: Regenstrief Institute
Observation Required in Panel
Conditional
Type of Entry
Question expects user entry - requires response [Q]
Fully-Specified Name
- Component
- Proline
- Property
- SCnc
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- Proline DBS-sCnc
- Display Name
- Proline (DBS) [Moles/Vol]
- Consumer Name Alpha Get Info
- Proline, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.21
- Last Updated
- Version 2.73
- Order vs. Observation
- Both
- Common Test Rank Get Info
- 19909
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 53261-4 | Amino acid newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| de-AT | German (Austria) | Synonyms: Prolin /Trockenblut |
| es-ES | Spanish (Spain) | Prolina: Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Prolina: |
| et-EE | Estonian (Estonia) | Proliin: Synonyms: Aine kontsentratsioon Juhuslik Kvantitatiivne Veri |
| fr-CA | French (Canada) | Proline: |
| fr-FR | French (France) | Proline: |
| fr-BE | French (Belgium) | Proline: |
| it-IT | Italian (Italy) | Prolina: Synonyms: Chimica Concentrazione di Sostanza Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | proline: |
| pt-BR | Portuguese (Brazil) | Prolina: Synonyms: Pro; |
| ru-RU | Russian (Russian Federation) | Пролин: Synonyms: Количественный Кровь Кровь сухая капля Молярность; |
| tr-TR | Turkish (Turkey) | Prolin: |
| zh-CN | Chinese (China) | 脯氨酸: Synonyms: Pro 克分子浓度; |
Example Units
| Unit | Source |
|---|---|
| umol/L | Example UCUM Units |
53392-7 Proline/Phenylalanine [Molar ratio] in DBS
Part Descriptions
LP15818-5 Proline
L-Proline is one of the twenty proteinogenic units used in the building blocks of proteins. The other nineteen units are all primary amino acids, but due to the cyclic binding of the three-carbon side chain to the nitrogen of the backbone, proline lacks a primary amine group (ˆ'NH2). The nitrogen in proline is referred to as a secondary amine. Proline is sometimes called an amino acid, although the IUPAC definition of an amine requires a carbon-nitrogen double bond.
Copyright Text is available under the Creative Commons Attribution/Share-Alike License. See http://creativecommons.org/licenses/by-sa/3.0/ for details.
Source: Wikipedia, Proline (Wikipedia)
LP15818-5 Proline
Proline is an amino acid that is the cyclized form of glutamic acid. The hydroxylation of proline increases the stability of collagen and is critical for maintaining connective tissue. Increased with iminoglycinuria,Type I and II hyperprolinemia, and lysinuric protein intolerance.
Source: Regenstrief Institute
LP70160-4 Phenylalanine
Phenylalanine is an essential alpha-amino acid. It exists in two forms, a D and an L form, which are enantiomers (mirror-image molecules) of each other. It has a benzyl side chain and its name comes from its chemical structures that consists of a phenyl group substituted for one of the hydrogens in the side chain of alanine. Because of its phenyl group, phenylalanine is an aromatic compound that at room temperature exists as a white, powdery solid. L -phenylalanine (LPA) is an electrically-neutral amino acid and its enantiomer, D -phenylalanine (DPA), can be synthesized artificially. L -phenylalanine can also be converted into L -tyrosine, another one of the twenty protein-forming amino acids.
Copyright Text is available under the Creative Commons Attribution/Share-Alike License. See http://creativecommons.org/licenses/by-sa/3.0/ for details.
Source: Wikipedia, Phenylalanine (Wikipedia)
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Proline/Phenylalanine
- Property
- SRto
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- Proline/Phe DBS-sRto
- Display Name
- Proline/Phenylalanine (DBS) [Molar ratio]
- Consumer Name Alpha Get Info
- Proline/Phenylalanine, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.24
- Last Updated
- Version 2.70
- Order vs. Observation
- Observation
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 53261-4 | Amino acid newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| de-DE | German (Germany) | Prolin/Phenylalanin: |
| es-ES | Spanish (Spain) | Prolina/Fenilalanina: Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Prolina / Fenilalanina: |
| fr-CA | French (Canada) | Proline/Phénylalanine: |
| fr-FR | French (France) | Proline/phénylalanine: |
| fr-BE | French (Belgium) | Proline/Phénylalanine: |
| it-IT | Italian (Italy) | Prolina/Fenilalanina: Synonyms: Chimica Punto nel tempo (episodio) Rapporto di sostanza Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | proline/fenylalanine: Synonyms: phenylalanine |
| pt-BR | Portuguese (Brazil) | Prolina/Fenilalanina: Synonyms: Pro; |
| ru-RU | Russian (Russian Federation) | Пролин/Фенилаланин: Synonyms: Количественный Кровь Кровь сухая капля Мольная доля; |
| tr-TR | Turkish (Turkey) | Prolin/Fenilalanin: Synonyms: SubsOranı |
| zh-CN | Chinese (China) | 脯氨酸/苯丙氨酸: Synonyms: Phe Phe; |
Example Units
| Unit | Source |
|---|---|
| {Ratio} | Example UCUM Units |
47742-2 Serine [Moles/volume] in DBS
Part Descriptions
LP15861-5 Serine
Serine, one of the 20 amino acids, is commonly found in animal proteins. Only the L-stereoisomer appears in nature. It is not essential to the human diet, because it can be synthesized from other metabolites, including glycine. Serine was first obtained from silk protein, a particularly rich source, in 1865. Its name is derived from the Latin for silk, sericum. Serine's structure was established in 1902.
Copyright Text is available under the Creative Commons Attribution/Share-Alike License. See http://creativecommons.org/licenses/by-sa/3.0/ for details.
Source: Wikipedia, Serine (Wikipedia)
LP15861-5 Serine
Serine is classified as an hydroxylic amino acid. Its levels in urine are elevated in hyperprolinemia, cystinosis, and Hartnup disease.
Source: Regenstrief Institute
Observation Required in Panel
Conditional
Type of Entry
Question expects user entry - requires response [Q]
Fully-Specified Name
- Component
- Serine
- Property
- SCnc
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- Serine DBS-sCnc
- Display Name
- Serine (DBS) [Moles/Vol]
- Consumer Name Alpha Get Info
- Serine, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.21
- Last Updated
- Version 2.70
- Order vs. Observation
- Both
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 53261-4 | Amino acid newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Serina: Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Serina: |
| et-EE | Estonian (Estonia) | Seriin: Synonyms: Aine kontsentratsioon Juhuslik Kvantitatiivne Veri |
| fr-CA | French (Canada) | Sérine: |
| fr-FR | French (France) | Sérine: |
| fr-BE | French (Belgium) | Sérine: |
| it-IT | Italian (Italy) | Serina: Synonyms: Chimica Concentrazione di Sostanza Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | serine: |
| pt-BR | Portuguese (Brazil) | Serina: Synonyms: Ser; |
| ru-RU | Russian (Russian Federation) | Серин: Synonyms: Количественный Кровь Кровь сухая капля Молярность; |
| tr-TR | Turkish (Turkey) | Serin: |
| zh-CN | Chinese (China) | 丝氨酸: Synonyms: Ser 克分子浓度; |
Example Units
| Unit | Source |
|---|---|
| umol/L | Example UCUM Units |
53231-7 Succinylacetone [Moles/volume] in DBS
Part Descriptions
LP15872-2 Succinylacetone
Succinylacetone is a primary marker for Tyrosinemia type I.
Source: Regenstrief LOINC
Observation Required in Panel
Conditional
Type of Entry
Question expects user entry - requires response [Q]
Fully-Specified Name
- Component
- Succinylacetone
- Property
- SCnc
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- Succinylacetone DBS-sCnc
- Display Name
- Succinylacetone (DBS) [Moles/Vol]
- Consumer Name Alpha Get Info
- Succinylacetone, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.24
- Last Updated
- Version 2.73
- Order vs. Observation
- Both
- Common Test Rank Get Info
- 17177
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 53261-4 | Amino acid newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
| 94573-3 | Tyrosinemia newborn screening follow-up and therapeutic monitoring panel - DBS |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Succinilacetona: Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Succinilacetona: |
| et-EE | Estonian (Estonia) | Suktsinüülatsetoon: Synonyms: Aine kontsentratsioon Juhuslik Kvantitatiivne Veri |
| fr-CA | French (Canada) | Succinylacétone: |
| fr-FR | French (France) | Succinylacétone: |
| fr-BE | French (Belgium) | Succinylacétone: |
| it-IT | Italian (Italy) | Succinilacetone: Synonyms: Chimica Concentrazione di Sostanza Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | succinylaceton: |
| pt-BR | Portuguese (Brazil) | Succinil acetona: Synonyms: SUAC; |
| ru-RU | Russian (Russian Federation) | Сукцинилацетон: Synonyms: Количественный Кровь Кровь сухая капля Молярность; |
| tr-TR | Turkish (Turkey) | Süksinilaseton: |
| zh-CN | Chinese (China) | 琥珀酰丙酮: Synonyms: SA 克分子浓度; |
Example Units
| Unit | Source |
|---|---|
| umol/L | Example UCUM Units |
47784-4 Threonine [Moles/volume] in DBS
Part Descriptions
LP15890-4 Threonine
Threonine, one of the 20 naturally occuring amino acids, is nutritionally essential in humans because they cannot synthesze it. Threonine contains two chiral centers, so there are four possible stereoisomers of threonine, or two possible diastereomers of L-threonine. However, the name L-threonine is used for one single enantiomer, (2 S ,3 R)-2-amino-3-hydroxybutanoic acid. The second diastereomer (2 S ,3 S), which is rarely present in nature, is called L-allo-threonine. The threonine side chain can undergo O-linked glycosylation. Threonine can become phosphorylated through the action of a threonine kinase. In its phosphorylated form, it is referred to as phosphothreonine. Foods high in threonine are cottage cheese, poultry, fish, meat, lentils, and sesame seeds. Threonine is a secondary marker for citrullinemia type II, an inherited disorder that causes ammonia and other toxic products to accumulate in the blood.
Copyright Text is available under the Creative Commons Attribution/Share-Alike License. See http://creativecommons.org/licenses/by-sa/3.0/ for details.
Source: Wikipedia, Threonine (Wikipedia)
LP15890-4 Threonine
An essential amino acid occurring naturally in the L-form, which is the active form. It is found in eggs, milk, gelatin, cottage cheese, poultry, fish, meat, lentils, sesame seeds and other proteins.
Source: National Library of Medicine, MeSH 2006
Observation Required in Panel
Conditional
Type of Entry
Question expects user entry - requires response [Q]
Fully-Specified Name
- Component
- Threonine
- Property
- SCnc
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- Threonine DBS-sCnc
- Display Name
- Threonine (DBS) [Moles/Vol]
- Consumer Name Alpha Get Info
- Threonine, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.21
- Last Updated
- Version 2.73
- Order vs. Observation
- Both
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 53261-4 | Amino acid newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Treonina: Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Treonina: |
| et-EE | Estonian (Estonia) | Treoniin: Synonyms: Aine kontsentratsioon Juhuslik Kvantitatiivne Veri |
| fr-CA | French (Canada) | Thréonine: |
| fr-FR | French (France) | Thréonine: |
| fr-BE | French (Belgium) | Thréonine: |
| it-IT | Italian (Italy) | Treonina: Synonyms: Chimica Concentrazione di Sostanza Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | threonine: |
| pt-BR | Portuguese (Brazil) | Treonina: Synonyms: Thr; |
| ru-RU | Russian (Russian Federation) | Треонин: Synonyms: Количественный Кровь Кровь сухая капля Молярность; |
| tr-TR | Turkish (Turkey) | Treonin: |
| zh-CN | Chinese (China) | 苏氨酸: Synonyms: Beta-羟丁氨酸; |
Example Units
| Unit | Source |
|---|---|
| umol/L | Example UCUM Units |
53159-0 Tryptophan [Moles/volume] in DBS
Part Descriptions
LP15931-6 Tryptophan
Tryptophan is an amino acid and essential in human nutrition. It is one of the 20 amino acids in the genetic code (codon UGG). Only the L-stereoisomer appears in mammalian protein, however the D-stereoisomer is occasionally found in natural materials (for example, the marine venom peptide contryphan).
Copyright Text is available under the Creative Commons Attribution/Share-Alike License. See http://creativecommons.org/licenses/by-sa/3.0/ for details.
Source: Wikipedia, Tryptophan (Wikipedia)
LP15931-6 Tryptophan
An essential amino acid that is necessary for normal growth in infants and for NITROGEN balance in adults. It is a precursor of INDOLE ALKALOIDS in plants. It is a precursor of SEROTONIN (hence its use as an antidepressant and sleep aid). It can be a precursor to NIACIN, albeit inefficiently, in mammals.
Source: National Library of Medicine, MeSH 2006
LP15931-6 Tryptophan
Tryptophoan (or L-tryptophan) is an amino acid, a protein building block that can be found in many plant and animal proteins. L-tryptophan is called an "essential" amino acid because the body can't make it. It must be acquired from food. L-tryptophan is used for insomnia, sleep apnea, depression, anxiety, facial pain, a severe form of premenstrual syndrome called premenstrual dysphoric disorder (PMDD), smoking cessation, grinding teeth during sleep (bruxism), attention deficit-hyperactivity disorder (ADHD), Tourette's syndrome, and to improve athletic performance. L-tryptophan is naturally found in animal and plant proteins. L-tryptophan is considered an essential amino acid because our bodies can't make it. It is important for the development and functioning of many organs in the body. After absorbing L-tryptophan from food, our bodies convert it to 5-HTP (5-hyrdoxytryptophan), and then to serotonin. Serotonin is a hormone that transmits signals between nerve cells. It also causes blood vessels to narrow. Changes in the level of serotonin in the brain can alter mood.
Source: Medline Plus, MedlinePlus: L-tryptophan
Observation Required in Panel
Conditional
Type of Entry
Question expects user entry - requires response [Q]
Fully-Specified Name
- Component
- Tryptophan
- Property
- SCnc
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- Tryptophan DBS-sCnc
- Display Name
- Tryptophan (DBS) [Moles/Vol]
- Consumer Name Alpha Get Info
- Tryptophan, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.24
- Last Updated
- Version 2.73
- Order vs. Observation
- Both
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 53261-4 | Amino acid newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Triptófano: Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Triptófano: |
| et-EE | Estonian (Estonia) | Trüptopfaan: Synonyms: Aine kontsentratsioon Juhuslik Kvantitatiivne Veri |
| fr-CA | French (Canada) | Tryptophane: |
| fr-FR | French (France) | Tryptophane: |
| fr-BE | French (Belgium) | Tryptophane: |
| it-IT | Italian (Italy) | Triptofano: Synonyms: Chimica Concentrazione di Sostanza Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | tryptofaan: |
| pt-BR | Portuguese (Brazil) | Triptofano: Synonyms: c244; |
| ru-RU | Russian (Russian Federation) | Триптофан: Synonyms: Количественный Кровь Кровь сухая капля Молярность; |
| tr-TR | Turkish (Turkey) | Triptofan: |
| zh-CN | Chinese (China) | 色氨酸: Synonyms: B 吲哚基丙氨酸; |
Example Units
| Unit | Source |
|---|---|
| umol/L | Example UCUM Units |
35571-9 Tyrosine [Moles/volume] in DBS
Part Descriptions
LP15793-0 Tyrosine
Tyrosine is an aromatic amino acid and its urine levels rise in tyrosinemia, TNT (Transient Neonatal Tyrosinemia), cystinosis, hartnup disease, methionine malabsorption, and alkaptonuria.
Source: Regenstrief Institute
Observation Required in Panel
Conditional
Type of Entry
Question expects user entry - requires response [Q]
Fully-Specified Name
- Component
- Tyrosine
- Property
- SCnc
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- Tyrosine DBS-sCnc
- Display Name
- Tyrosine (DBS) [Moles/Vol]
- Consumer Name Alpha Get Info
- Tyrosine, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.13
- Last Updated
- Version 2.73
- Order vs. Observation
- Both
- Common Test Rank Get Info
- 4630
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 53261-4 | Amino acid newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
| 79621-9 | Phenylalanine and Tyrosine panel - DBS |
| 94573-3 | Tyrosinemia newborn screening follow-up and therapeutic monitoring panel - DBS |
Member of these Groups Get Info
| LOINC Group | Group Name |
|---|---|
| LG49975-2 | Tyrosine| |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| de-AT | German (Austria) | Synonyms: Tyrosin /Trockenblut |
| de-DE | German (Germany) | Tyrosin: |
| es-ES | Spanish (Spain) | Tirosina: Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Tirosina: |
| es-AR | Spanish (Argentina) | cristales de tirosina: |
| et-EE | Estonian (Estonia) | Türosiin: Synonyms: Aine kontsentratsioon Juhuslik Kvantitatiivne Veri |
| fr-CA | French (Canada) | Tyrosine: |
| fr-FR | French (France) | Tyrosine: |
| fr-BE | French (Belgium) | Tyrosine: |
| it-IT | Italian (Italy) | Tirosina: Synonyms: Chimica Concentrazione di Sostanza Punto nel tempo (episodio) Sangue Spot sangue secco |
| ko-KR | Korean (Korea, Republic Of) | 티로신: |
| nl-NL | Dutch (Netherlands) | tyrosine: |
| pt-BR | Portuguese (Brazil) | Tirosina: Synonyms: Tyr; |
| ru-RU | Russian (Russian Federation) | Тирозин: Synonyms: Количественный Кровь Кровь сухая капля Молярность; |
| tr-TR | Turkish (Turkey) | Tirozin: |
| uk-UA | Ukrainian (Ukraine) | Тирозин: Synonyms: Blood; |
| zh-CN | Chinese (China) | 酪氨酸: Synonyms: 3-对羟苯基丙氨酸; |
Example Units
| Unit | Source |
|---|---|
| umol/L | Example UCUM Units |
| mcmol/L | REGENSTRIEF |
47799-2 Valine [Moles/volume] in DBS
Part Descriptions
LP15946-4 Valine
Valine, one of the 20 proteinogenic amino acids, is nutritionally essential. It is named after the plant valerian. Foods that are good sources of valine include cottage cheese, fish, poultry, peanuts, sesame seeds, and lentils. In sickle cell disease, the replacement of an A by T in the beta chain gene of hemoglobin changes the codon GAG (for glutamic acid) to GTG (which encodes valine). Thus valine, a hydrophic amnio acid, replaces glutamic acid, a hydrophilic amino acid, causing hemoglobin to not fold correctly. It is also a precursor in the penicillin biosynthetic pathway.
Copyright Text is available under the Creative Commons Attribution/Share-Alike License. See http://creativecommons.org/licenses/by-sa/3.0/ for details.
Source: Wikipedia, Valine (Wikipedia)
LP15946-4 Valine
A branched-chain essential amino acid that stimulates activity and promotes muscle growth and tissue repair. It is a precursor in the penicillin biosynthetic pathway.
Source: National Library of Medicine, MeSH 2006
LP15946-4 Valine
Valine is a branched-chain amino acid that stimulates activity and promotes muscle growth and tissue repair. It is elevated in branched-chain ketoaciduria (maple syrup urine disease), along with leucine, isoleucine, and alloisoleucine.
Source: Regenstrief Institute
Observation Required in Panel
Conditional
Type of Entry
Question expects user entry - requires response [Q]
Fully-Specified Name
- Component
- Valine
- Property
- SCnc
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- Valine DBS-sCnc
- Display Name
- Valine (DBS) [Moles/Vol]
- Consumer Name Alpha Get Info
- Valine, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.21
- Last Updated
- Version 2.73
- Order vs. Observation
- Both
- Common Test Rank Get Info
- 16392
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 53261-4 | Amino acid newborn screen panel |
| 94571-7 | Branched chain amino acid panel - DBS |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| de-AT | German (Austria) | Synonyms: Valin /Trockenblut |
| es-ES | Spanish (Spain) | Valina: Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Valina: |
| et-EE | Estonian (Estonia) | Valiin: Synonyms: Aine kontsentratsioon Juhuslik Kvantitatiivne Veri |
| fr-CA | French (Canada) | Valine: |
| fr-FR | French (France) | Valine: |
| fr-BE | French (Belgium) | Valine: |
| it-IT | Italian (Italy) | Valina: Synonyms: Chimica Concentrazione di Sostanza Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | valine: |
| pt-BR | Portuguese (Brazil) | Valina: Synonyms: Val; |
| ru-RU | Russian (Russian Federation) | Валин: Synonyms: Количественный Кровь Кровь сухая капля Молярность; |
| tr-TR | Turkish (Turkey) | Valin: |
| uk-UA | Ukrainian (Ukraine) | Валін: Synonyms: Blood; |
| zh-CN | Chinese (China) | 缬氨酸: Synonyms: Alpha-氨基异戊酸; |
Example Units
| Unit | Source |
|---|---|
| umol/L | Example UCUM Units |
53151-7 Valine/Phenylalanine [Molar ratio] in DBS
Term Description
Valine/Phenylalanine is a primary marker for Maple syrup urine disease and Valinemia.
Source: Regenstrief LOINC
Part Descriptions
LP15946-4 Valine
Valine, one of the 20 proteinogenic amino acids, is nutritionally essential. It is named after the plant valerian. Foods that are good sources of valine include cottage cheese, fish, poultry, peanuts, sesame seeds, and lentils. In sickle cell disease, the replacement of an A by T in the beta chain gene of hemoglobin changes the codon GAG (for glutamic acid) to GTG (which encodes valine). Thus valine, a hydrophic amnio acid, replaces glutamic acid, a hydrophilic amino acid, causing hemoglobin to not fold correctly. It is also a precursor in the penicillin biosynthetic pathway.
Copyright Text is available under the Creative Commons Attribution/Share-Alike License. See http://creativecommons.org/licenses/by-sa/3.0/ for details.
Source: Wikipedia, Valine (Wikipedia)
LP15946-4 Valine
A branched-chain essential amino acid that stimulates activity and promotes muscle growth and tissue repair. It is a precursor in the penicillin biosynthetic pathway.
Source: National Library of Medicine, MeSH 2006
LP15946-4 Valine
Valine is a branched-chain amino acid that stimulates activity and promotes muscle growth and tissue repair. It is elevated in branched-chain ketoaciduria (maple syrup urine disease), along with leucine, isoleucine, and alloisoleucine.
Source: Regenstrief Institute
LP70160-4 Phenylalanine
Phenylalanine is an essential alpha-amino acid. It exists in two forms, a D and an L form, which are enantiomers (mirror-image molecules) of each other. It has a benzyl side chain and its name comes from its chemical structures that consists of a phenyl group substituted for one of the hydrogens in the side chain of alanine. Because of its phenyl group, phenylalanine is an aromatic compound that at room temperature exists as a white, powdery solid. L -phenylalanine (LPA) is an electrically-neutral amino acid and its enantiomer, D -phenylalanine (DPA), can be synthesized artificially. L -phenylalanine can also be converted into L -tyrosine, another one of the twenty protein-forming amino acids.
Copyright Text is available under the Creative Commons Attribution/Share-Alike License. See http://creativecommons.org/licenses/by-sa/3.0/ for details.
Source: Wikipedia, Phenylalanine (Wikipedia)
Observation Required in Panel
Conditional
Type of Entry
Question expects user entry - requires response [Q]
Fully-Specified Name
- Component
- Valine/Phenylalanine
- Property
- SRto
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- Valine/Phe DBS-sRto
- Display Name
- Valine/Phenylalanine (DBS) [Molar ratio]
- Consumer Name Alpha Get Info
- Valine/Phenylalanine, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.24
- Last Updated
- Version 2.73
- Order vs. Observation
- Both
- Common Test Rank Get Info
- 18115
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 53261-4 | Amino acid newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| de-DE | German (Germany) | Valin/Phenylalanin: |
| es-ES | Spanish (Spain) | Valina/Fenilalanina: Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Valina / Fenilalanina: |
| fr-CA | French (Canada) | Valine/Phénylalanine: |
| fr-FR | French (France) | Valine/phénylalanine: |
| fr-BE | French (Belgium) | Valine/Phénylalanine: |
| it-IT | Italian (Italy) | Valina/Fenilalanina: Synonyms: Chimica Punto nel tempo (episodio) Rapporto di sostanza Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | valine/fenylalanine: Synonyms: phenylalanine |
| pt-BR | Portuguese (Brazil) | Valina/Fenilalanina: Synonyms: Val; |
| ru-RU | Russian (Russian Federation) | Валин/Фенилаланин: Synonyms: Количественный Кровь Кровь сухая капля Мольная доля; |
| tr-TR | Turkish (Turkey) | Valin/Fenilalanin: Synonyms: SubsOranı |
| zh-CN | Chinese (China) | 缬氨酸/苯丙氨酸: Synonyms: Alpha-氨基异戊酸; |
Example Units
| Unit | Source |
|---|---|
| {Ratio} | Example UCUM Units |
58092-8 Acylcarnitine newborn screen panel
Term Description
Newborn screening dried blood spot analysis by tandem mass spectrometry (MS/MS) requires pre-processing the specimen with one of two alternative reagent methods referred to as derivatized and non-derivatized (or underivatized) methods. The methods are similar and nearly all analytes and ratios are identical with the limited number of exceptions noted in the description of the LOINC codes. Some labs choose to use the non-derivatized method because it may be faster or less expensive for their operations. There are no analytes which would be interpreted differently based on the method used to process the specimen so there is no need for different LOINC codes for the same compounds based on the reagents. In a few cases, a different LOINC code is used for the derivatized or non-derivatized tandem mass spectrometry (MS/MS) method because based on the reagents used in processing, different analytes are measured or different sets of analytes become isobaric, which means that they cannot be distinguished on the MS/MS because they have the same molecular weight after reagent processing.
Source: Regenstrief LOINC
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Acylcarnitine newborn screen panel
- Property
- -
- Time
- Pt
- System
- Bld.dot
- Scale
- -
- Method
Additional Names
- Short Name
- Acylcarnitine NBS pnl DBS
- Display Name
- Acylcarnitine NBS panel (DBS)
- Consumer Name Alpha Get Info
- Acylcarnitine NBS Panel, Dried blood spot
Basic Attributes
- Class
- PANEL.CHEM
- Type
- Laboratory
- First Released
- Version 2.29
- Last Updated
- Version 2.77
- Order vs. Observation
- Order
- Common Test Rank Get Info
- 16130
- Panel Type
- Panel
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Panel de cribado neonatal de acilcarnitina: |
| es-MX | Spanish (Mexico) | Panel de pantalla para recién nacidos de acilcarnitina: |
| et-EE | Estonian (Estonia) | Atsüülkarnitiini sõeluuring vastsündinul: Synonyms: Juhuslik Veri |
| fr-FR | French (France) | Acylcarnitine dépistage néonatal panel: |
| fr-BE | French (Belgium) | Panel screening néonatal acylcarnitine: |
| it-IT | Italian (Italy) | Acilcarnitina, panel screening neonatale: Synonyms: Chimica Panel screening neonatale acilcarnitina Punto nel tempo (episodio) Sangue Set di prescrizione chimica Spot sangue secco |
| nl-NL | Dutch (Netherlands) | acylcarnitine pasgeborene screening panel: |
| pt-BR | Portuguese (Brazil) | Acilcarnitina triagem neonatal painel: Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Ацилкарнитин новорождённый скрин панель: Synonyms: Кровь Кровь сухая капля Точка во времени; |
| zh-CN | Chinese (China) | 酰基肉碱新生儿筛查组套: Synonyms: 全血斑点(滤纸); |
58088-6 Acylcarnitine newborn screen interpretation
Term Description
Acylcarnitine concentration measured in blood dot (Filter Paper) as part of newborn screen. It detects Fatty Acid Oxidation and Organic Acidemia Disorders.
Source: Regenstrief Institute
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Acylcarnitine
- Property
- Imp
- Time
- Pt
- System
- Bld.dot
- Scale
- Nar
- Method
Additional Names
- Short Name
- Acylcarnitine DBS-Imp
- Display Name
- Acylcarnitine Nar (DBS) [Interp]
- Consumer Name Alpha Get Info
- Interpretation of Acylcarnitine test result, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.29
- Last Updated
- Version 2.73
- Change Reason
- Changed answer list from "Normative" to "Preferred" to fit the current LOINC model.
- Order vs. Observation
- Observation
- Common Test Rank Get Info
- 17693
Preferred Answer List LL840-0
| Answer | Code | Score | Answer ID |
|---|---|---|---|
| In range | LA18592-8 | ||
| Borderline | LA4259-3 | ||
| Indeterminate Copyright http://snomed.info/sct ID:82334004 Indeterminate (qualifier value) | LA11884-6 | ||
| Out of range | LA18593-6 | ||
| Out of range requiring further dried blood spot testing for at least one condition | LA12430-7 | ||
| Out of range requiring immediate referral | LA25817-0 | ||
| Out of range requiring immediate second-tier testing for at least one condition | LA12431-5 | ||
| Out of range requiring deferred follow-up for at least one condition | LA18594-4 | ||
| One or more tests pending | LA16204-2 | ||
| Specimen unsatisfactory for at least one condition | LA16205-9 |
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 58092-8 | Acylcarnitine newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Acilcarnitina: |
| es-MX | Spanish (Mexico) | Acilcarnitina: |
| fr-CA | French (Canada) | Acylcarnitine: |
| fr-FR | French (France) | Acylcarnitine: |
| fr-BE | French (Belgium) | Acylcarnitine: |
| it-IT | Italian (Italy) | Acilcarnitina: Synonyms: Chimica Impressione/interpretazione di studio Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | acylcarnitine: |
| pt-BR | Portuguese (Brazil) | Acilcarnitina: Synonyms: Acylcarni; |
| ru-RU | Russian (Russian Federation) | Ацилкарнитин: Synonyms: Впечатление/интерпретация исследования Кровь Кровь сухая капля Описательный Точка во времени; |
| tr-TR | Turkish (Turkey) | Açilkarnitin: |
| zh-CN | Chinese (China) | 酰基肉碱: Synonyms: 全血斑点(滤纸); |
Third Party Copyright
This material includes SNOMED Clinical Terms® (SNOMED CT®) which is used by permission of the International Health Terminology Standards Development Organisation (IHTSDO) under license. All rights reserved. SNOMED CT® was originally created by The College of American Pathologists. "SNOMED" and "SNOMED CT" are registered trademarks of the IHTSDO.
This material includes content from the US Edition to SNOMED CT, which is developed and maintained by the U.S. National Library of Medicine and is available to authorized UMLS Metathesaurus Licensees from the UTS Downloads site at https://uts.nlm.nih.gov.
Use of SNOMED CT content is subject to the terms and conditions set forth in the SNOMED CT Affiliate License Agreement. It is the responsibility of those implementing this product to ensure they are appropriately licensed and for more information on the license, including how to register as an Affiliate Licensee, please refer to http://www.snomed.org/snomed-ct/get-snomed-ct or info@snomed.org<mailto:info@snomed.org>. This may incur a fee in SNOMED International non-Member countries.
58093-6 Acylcarnitine newborn screening comment-discussion
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Acylcarnitine newborn screening comment-discussion
- Property
- Txt
- Time
- Pt
- System
- Bld.dot
- Scale
- Nar
- Method
Additional Names
- Short Name
- Acylcarnitine NBS comment
- Display Name
- Acylcarnitine newborn screening comment-discussion Nar (DBS)
- Consumer Name Alpha Get Info
- Acylcarnitine newborn screening comment-discussion, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.29
- Last Updated
- Version 2.73
- Order vs. Observation
- Observation
- Common Test Rank Get Info
- 18419
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 58092-8 | Acylcarnitine newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Acilcarnitina screnning de recién nacidos comentario-discusión: |
| es-MX | Spanish (Mexico) | Comentario-discusión sobre el cribado neonatal de acilcarnitina: |
| fr-FR | French (France) | Acylcarnitine dépistage néonatal (commentaire/discussion): |
| fr-BE | French (Belgium) | Acylcarnitine Commentaires.screening néonatal.discussion: |
| it-IT | Italian (Italy) | Acilcarnitina, screening neonatale, commenti-discussione: Synonyms: Chimica Commento/discussione di screening neonatale acilcarnitina Punto nel tempo (episodio) Sangue Spot sangue secco Testo |
| nl-NL | Dutch (Netherlands) | acylcarnitine screening van pasgeborene commentaar-discussie: |
| pt-BR | Portuguese (Brazil) | Acilcarnitina triagem neonatal comentários-discussão: Synonyms: Remarks; |
| ru-RU | Russian (Russian Federation) | Ацилкарнитин новорожденный скрининг комментарий-дискуссия: Synonyms: Кровь Кровь сухая капля Описательный Текст Точка во времени; |
| tr-TR | Turkish (Turkey) | Açilkarnitin yenidoğan tarama öneri-tartışma: |
| zh-CN | Chinese (China) | 酰基肉碱 新生儿筛查注释-讨论: Synonyms: Asympt SCN 全血斑点(滤纸); |
57084-6 Fatty acid oxidation newborn screen panel
Term Description
Newborn screening dried blood spot analysis by tandem mass spectrometry (MS/MS) requires pre-processing the specimen with one of two alternative reagent methods referred to as derivatized and non-derivatized (or underivatized) methods. The methods are similar and nearly all analytes and ratios are identical with the limited number of exceptions noted in the description of the LOINC codes. Some labs choose to use the non-derivatized method because it may be faster or less expensive for their operations. There are no analytes which would be interpreted differently based on the method used to process the specimen so there is no need for different LOINC codes for the same compounds based on the reagents. In a few cases, a different LOINC code is used for the derivatized or non-derivatized tandem mass spectrometry (MS/MS) method because based on the reagents used in processing, different analytes are measured or different sets of analytes become isobaric, which means that they cannot be distinguished on the MS/MS because they have the same molecular weight after reagent processing.
Source: Regenstrief LOINC
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Fatty acid oxidation newborn screen panel
- Property
- -
- Time
- Pt
- System
- Bld.dot
- Scale
- -
- Method
Additional Names
- Short Name
- FA oxidation NB scn pnl DBS
- Display Name
- Fatty acid oxidation NBS panel (DBS)
- Consumer Name Alpha Get Info
- Fatty Acid Oxidation NBS Panel, Dried blood spot
Basic Attributes
- Class
- PANEL.CHEM
- Type
- Laboratory
- First Released
- Version 2.29
- Last Updated
- Version 2.77
- Order vs. Observation
- Order
- Common Test Rank Get Info
- 17172
- Panel Type
- Panel
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 58092-8 | Acylcarnitine newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Panel de cribado de la oxidación de ácidos grasos en el recién nacido: |
| es-MX | Spanish (Mexico) | Panel de pantalla recién nacido de oxidación de ácidos grasos: |
| et-EE | Estonian (Estonia) | Rasvhapete oksüdatsioonidefektis sõeluuring vastsündinul: Synonyms: Juhuslik Veri |
| fr-FR | French (France) | Oxydation des acides gras dépistage néonatal panel: |
| fr-BE | French (Belgium) | Panel screening nouveau-né oxidation des acides gras: |
| it-IT | Italian (Italy) | Acidi grassi, panel di screening neonatale per ossidazione: Synonyms: Chimica Ossidazione degli acidi grassi Panel screening neonatale per ossidazione degli ac Punto nel tempo (episodio) Sangue Set di prescrizione chimica Spot sangue secco |
| nl-NL | Dutch (Netherlands) | vetzuuroxidatie pasgeborene screening panel: |
| pl-PL | Polish (Poland) | Panel przesiewowy noworodka utleniania kwasów tłuszczowych: |
| pt-BR | Portuguese (Brazil) | Oxidação de ácidos graxos painel da tela de recém-nascido: Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Жирные кислоты окисление новорождённый скрин панель: Synonyms: Кровь Кровь сухая капля Точка во времени; |
| zh-CN | Chinese (China) | 脂肪酸氧化新生儿筛查组套: Synonyms: FAO 全血斑点(滤纸); |
46736-5 Fatty acid oxidation defects newborn screen interpretation
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Fatty acid oxidation defects
- Property
- Imp
- Time
- Pt
- System
- Bld.dot
- Scale
- Nom
- Method
Additional Names
- Short Name
- FOD DBS-Imp
- Display Name
- Fatty acid oxidation defects (DBS) [Interp]
- Consumer Name Alpha Get Info
- Fatty acid oxidation defects, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.19
- Last Updated
- Version 2.73
- Change Reason
- Changed answer list from "Normative" to "Preferred" to fit the current LOINC model.
- Order vs. Observation
- Observation
- Common Test Rank Get Info
- 1323
Preferred Answer List LL840-0
| Answer | Code | Score | Answer ID |
|---|---|---|---|
| In range | LA18592-8 | ||
| Borderline | LA4259-3 | ||
| Indeterminate Copyright http://snomed.info/sct ID:82334004 Indeterminate (qualifier value) | LA11884-6 | ||
| Out of range | LA18593-6 | ||
| Out of range requiring further dried blood spot testing for at least one condition | LA12430-7 | ||
| Out of range requiring immediate referral | LA25817-0 | ||
| Out of range requiring immediate second-tier testing for at least one condition | LA12431-5 | ||
| Out of range requiring deferred follow-up for at least one condition | LA18594-4 | ||
| One or more tests pending | LA16204-2 | ||
| Specimen unsatisfactory for at least one condition | LA16205-9 |
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 58092-8 | Acylcarnitine newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Defectos de la oxidación de ácidos grasos: |
| es-MX | Spanish (Mexico) | Defectos de oxidación de ácidos grasos: |
| fr-CA | French (Canada) | Défauts de l'oxydation des acides gras: |
| fr-FR | French (France) | Oxydation des acides gras déficit: |
| fr-BE | French (Belgium) | Défauts de l'oxydation des acides gras: |
| it-IT | Italian (Italy) | Acidi grassi, difetti di ossidazione: Synonyms: Chimica Difetti di ossidazione degli acidi grassi Impressione/interpretazione di studio Ossidazione degli acidi grassi Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | vetzuuroxidatiedefecten: |
| pt-BR | Portuguese (Brazil) | Defeitos de oxidação de ácidos graxos: Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Жирных кислот окисления дефекты: Synonyms: Впечатление/интерпретация исследования Кровь Кровь сухая капля Номинальный; |
| tr-TR | Turkish (Turkey) | Yağ asidi oksidasyonu kusurları: |
| zh-CN | Chinese (China) | 脂肪酸氧化过程缺陷: Synonyms: FAO FAODS; |
Third Party Copyright
This material includes SNOMED Clinical Terms® (SNOMED CT®) which is used by permission of the International Health Terminology Standards Development Organisation (IHTSDO) under license. All rights reserved. SNOMED CT® was originally created by The College of American Pathologists. "SNOMED" and "SNOMED CT" are registered trademarks of the IHTSDO.
This material includes content from the US Edition to SNOMED CT, which is developed and maintained by the U.S. National Library of Medicine and is available to authorized UMLS Metathesaurus Licensees from the UTS Downloads site at https://uts.nlm.nih.gov.
Use of SNOMED CT content is subject to the terms and conditions set forth in the SNOMED CT Affiliate License Agreement. It is the responsibility of those implementing this product to ensure they are appropriately licensed and for more information on the license, including how to register as an Affiliate Licensee, please refer to http://www.snomed.org/snomed-ct/get-snomed-ct or info@snomed.org<mailto:info@snomed.org>. This may incur a fee in SNOMED International non-Member countries.
57792-4 Fatty acid oxidation conditions suspected [Identifier] in DBS
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Fatty acid oxidation conditions suspected
- Property
- Prid
- Time
- Pt
- System
- Bld.dot
- Scale
- Nom
- Method
Additional Names
- Short Name
- FA oxidation conditions suspected DBS
- Display Name
- Fatty acid oxidation conditions suspected Nom (DBS)
- Consumer Name Alpha Get Info
- Fatty acid oxidation conditions suspected, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.29
- Last Updated
- Version 2.61
- Change Reason
- Changed answer list from "Normative" to "Preferred" to fit the current LOINC model.
- Order vs. Observation
- Observation
Preferred Answer List LL838-4
| Answer | Code | Score | Answer ID |
|---|---|---|---|
| None Copyright http://snomed.info/sct ID:260413007 None (qualifier value) | LA137-2 | ||
| Carnitine palmitoyltransferase type I deficiency Copyright http://snomed.info/sct ID:238001003 Carnitine palmitoyltransferase I deficiency (disorder) | LA12485-1 | ||
| Carnitine uptake deficiency/carnitine transport defect Copyright http://snomed.info/sct ID:21764004 Renal carnitine transport defect (disorder) | LA12487-7 | ||
| CPT-II or CACT | LA12573-4 | ||
| LCHAD or TFP | LA12574-2 | ||
| Medium-chain acyl-CoA dehydrogenase deficiency Copyright http://snomed.info/sct ID:128596003 Medium-chain acyl-coenzyme A dehydrogenase deficiency (disorder) | LA12509-8 | ||
| MCAD or SCAD or GA-2(MADD) | LA12575-9 | ||
| SCAD or EMA or IBG or GA-2 (MADD) | LA12576-7 | ||
| Very long-chain acyl-CoA dehydrogenase deficiency Copyright http://snomed.info/sct ID:237997005 Very long chain acyl-coenzyme A dehydrogenase deficiency (disorder) | LA12531-2 | ||
| 2,4-Dienoyl-CoA reductase deficiency Copyright http://snomed.info/sct ID:444944006 Deficiency of 2,4-dienoyl-coenzyme A reductase (disorder) | LA12489-3 | ||
| Carnitine acylcarnitine translocase deficiency Copyright http://snomed.info/sct ID:238003000 Carnitine acylcarnitine translocase deficiency (disorder) | LA12475-2 | ||
| Carnitine palmitoyltransferase type II deficiency Copyright http://snomed.info/sct ID:238002005 Carnitine palmitoyltransferase II deficiency (disorder) | LA12486-9 | ||
| Glutaric acidemia type II Copyright http://snomed.info/sct ID:22886006 Glutaric aciduria, type 2 (disorder) | LA12495-0 | ||
| Long-chain L-3 hydroxyacyl-CoA dehydrogenase deficiency Copyright http://snomed.info/sct ID:307127004 Isolated long chain hydroxyacyl-CoA dehydrogenase deficiency (disorder) | LA12507-2 | ||
| Carnitine uptake deficiency/carnitine transport defect (maternal) Copyright http://snomed.info/sct ID:206001006 Fetal or neonatal effect of maternal problem unrelated to pregnancy (disorder) | LA12488-5 | ||
| Medium-chain ketoacyl-CoA thiolase deficiency Copyright http://snomed.info/sct ID:124265004 Deficiency of acetyl-coenzyme A acyltransferase (disorder) | LA12511-4 | ||
| Short-chain acyl-CoA dehydrogenase deficiency Copyright http://snomed.info/sct ID:124166007 Deficiency of butyryl-CoA dehydrogenase (disorder) | SCAD | LA12524-7 | |
| Short-chain L-3-hydroxy acyl-CoA dehydrogenase deficiency Copyright http://snomed.info/sct ID:237998000 Short chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency (disorder) | LA12525-4 | ||
| Trifunctional protein deficiency Copyright http://snomed.info/sct ID:237999008 Mitochondrial trifunctional protein deficiency (disorder) | LA12527-0 | ||
| CUD or CUD (mat) or CPT-Ia | LA12916-5 | ||
| GA-1 or GA-2 | LA12917-3 | ||
| X-linked adrenoleukodystrophy Copyright http://snomed.info/sct ID:65389002 Adrenoleukodystrophy (disorder) | LA25796-6 |
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 58092-8 | Acylcarnitine newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Condiciones de oxidación de ácidos grasos: |
| es-MX | Spanish (Mexico) | Sospecha de condiciones de oxidación de ácidos grasos: |
| fr-FR | French (France) | Oxydation des acides gras conditions suspectées: |
| fr-BE | French (Belgium) | Conditions suspectes d'oxydation des acides gras: |
| it-IT | Italian (Italy) | Acidi grassi, condizioni sospette di ossidazione: Synonyms: Chimica Condizioni sospette di ossidazione degli acidi gra Ossidazione degli acidi grassi Presenza o Identità Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | vetzuuroxidatie omstandigheden vermoed: |
| pl-PL | Polish (Poland) | Badanie statusu utlenienie kwasów tłuszczowych: |
| pt-BR | Portuguese (Brazil) | Condições suspeitas de oxidação de ácidos graxos: Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Жирная кислота окисление состояние заподозрены: Synonyms: Кровь Кровь сухая капля Номинальный; |
| tr-TR | Turkish (Turkey) | Yağ asidi oksidasyonu koşulları şüphelenilen: |
| zh-CN | Chinese (China) | 疑似脂肪酸氧化障碍: Synonyms: FAO 全血斑点(滤纸); |
Third Party Copyright
This material includes SNOMED Clinical Terms® (SNOMED CT®) which is used by permission of the International Health Terminology Standards Development Organisation (IHTSDO) under license. All rights reserved. SNOMED CT® was originally created by The College of American Pathologists. "SNOMED" and "SNOMED CT" are registered trademarks of the IHTSDO.
This material includes content from the US Edition to SNOMED CT, which is developed and maintained by the U.S. National Library of Medicine and is available to authorized UMLS Metathesaurus Licensees from the UTS Downloads site at https://uts.nlm.nih.gov.
Use of SNOMED CT content is subject to the terms and conditions set forth in the SNOMED CT Affiliate License Agreement. It is the responsibility of those implementing this product to ensure they are appropriately licensed and for more information on the license, including how to register as an Affiliate Licensee, please refer to http://www.snomed.org/snomed-ct/get-snomed-ct or info@snomed.org<mailto:info@snomed.org>. This may incur a fee in SNOMED International non-Member countries.
57709-8 Fatty acid oxidation defects newborn screening comment-discussion
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Fatty acid oxidation defects newborn screening comment-discussion
- Property
- Txt
- Time
- Pt
- System
- Bld.dot
- Scale
- Nar
- Method
Additional Names
- Short Name
- FOD NBS comment
- Display Name
- Fatty acid oxidation defects newborn screening comment-discussion Nar (DBS)
- Consumer Name Alpha Get Info
- Fatty acid oxidation defects newborn screening comment-discussion, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.29
- Last Updated
- Version 2.42
- Order vs. Observation
- Observation
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 58092-8 | Acylcarnitine newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Defectos de la oxidación de ácidos grasos screnning de recién nacidos comentario-discusión: |
| es-MX | Spanish (Mexico) | Defectos de oxidación de ácidos grasos cribado neonatal comentario-discusión: |
| fr-FR | French (France) | Oxydation des acides gras déficit dépistage néonatal: |
| fr-BE | French (Belgium) | Défauts de l'oxydation des acides gras Commentaires.screening néonatal.discussion: |
| it-IT | Italian (Italy) | Acidi grassi, difetti di ossidazione, screening neonatale, commenti-discussione: Synonyms: Chimica Commento/discussione di screening neonatale per difetti di ossidazione degli acidi grassi Difetti di ossidazione degli acidi grassi Ossidazione degli acidi grassi Punto nel tempo (episodio) Sangue Spot sangue secco Testo |
| nl-NL | Dutch (Netherlands) | vetzuuroxidatiedefecten screening van pasgeborene commentaar-discussie: |
| pl-PL | Polish (Poland) | Zaburzenia utleniania kwasów tłuszczowych komentarz-dyskusja nad badaniami przesiewowymi noworodka: |
| pt-BR | Portuguese (Brazil) | Defeitos de oxidação de ácidos graxos na triagem neonatal comentários-discussão: Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Жирных кислот окисления дефекты новорожденный скрининг комментарий-дискуссия: Synonyms: Кровь Кровь сухая капля Описательный Текст Точка во времени; |
| tr-TR | Turkish (Turkey) | Yağ asidi oksidasyonu kusurları yenidoğan tarama öneri-tartışma: |
| zh-CN | Chinese (China) | 脂肪酸氧化过程缺陷 新生儿筛查注释-讨论: Synonyms: Asympt FAO FAODS; |
38481-8 Carnitine free (C0) [Moles/volume] in DBS
Part Descriptions
LP18431-4 Carnitine.free (C0)
Carnitine.free is a primary marker for carnitine uptake defect, propionic acidemia, maternal carnitine uptake defect, carnitine palmitoyltransferase I deficiency and primary lactic acidemia (various types). It is also a secondary marker for maternal glutaric acidemia type I.
Source: Regenstrief LOINC
Observation Required in Panel
Conditional
Type of Entry
Question expects user entry - requires response [Q]
Fully-Specified Name
- Component
- Carnitine.free (C0)
- Property
- SCnc
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- Carnitine Free DBS-sCnc
- Display Name
- C0 (DBS) [Moles/Vol]
- Consumer Name Alpha Get Info
- C0, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.14
- Last Updated
- Version 2.73
- Order vs. Observation
- Both
- Common Test Rank Get Info
- 19326
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 58092-8 | Acylcarnitine newborn screen panel |
| 79284-6 | Carnitine biosynthesis intermediates panel - DBS |
| 53262-2 | Carnitine newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Carnitina libre: Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Carnitina libre (C0): |
| es-AR | Spanish (Argentina) | carnitina.libre: |
| et-EE | Estonian (Estonia) | Karnitiin.vaba (C0): Synonyms: Aine kontsentratsioon Juhuslik Kvantitatiivne Veri |
| fr-CA | French (Canada) | Carnitine.libre (C0): |
| fr-FR | French (France) | Carnitine libre (C0): |
| fr-BE | French (Belgium) | Carnitine.libre (C0): |
| it-IT | Italian (Italy) | Carnitina.libera (C0): Synonyms: Carnitina libera (C0) Chimica Concentrazione di Sostanza Punto nel tempo (episodio) Sangue Spot sangue secco |
| ko-KR | Korean (Korea, Republic Of) | 유리카르니틴: |
| nl-NL | Dutch (Netherlands) | carnitine.vrij (C0): |
| pt-BR | Portuguese (Brazil) | Carnitina.livre (C0): Synonyms: Substance concentration; |
| ru-RU | Russian (Russian Federation) | Карнитин.свободный(С0): Synonyms: Количественный Кровь Кровь сухая капля Молярность; |
| tr-TR | Turkish (Turkey) | Karnitin.serb (C0): |
| zh-CN | Chinese (China) | 肉碱.游离型 (C0): Synonyms: 克分子浓度; |
Example Units
| Unit | Source |
|---|---|
| umol/L | Example UCUM Units |
| mcmol/L | REGENSTRIEF |
53233-3 Carnitine free (C0)/Palmitoylcarnitine (C16) [Molar ratio] in DBS
Term Description
Carnitine.free/Palmitoylcarnitine is a secondary marker for Carnitine acylcarnitine translocase deficiency.
Source: Regenstrief LOINC
Part Descriptions
LP18431-4 Carnitine.free (C0)
Carnitine.free is a primary marker for carnitine uptake defect, propionic acidemia, maternal carnitine uptake defect, carnitine palmitoyltransferase I deficiency and primary lactic acidemia (various types). It is also a secondary marker for maternal glutaric acidemia type I.
Source: Regenstrief LOINC
LP70162-0 Palmitoylcarnitine (C16)
Palmitoylcarnitine is a primary marker for Very long-chain acyl-CoA dehydrogenase deficiency, Long-chain L-3-Hydroxy dehydrogenase deficiency, Trifunctional protein deficiency, Carnitine palmitoyltransferase I deficiency, Carnitine acylcarnitine translocase deficiency, and Carnitine palmitoyltransferase II deficiency. Secondary marker for Carnitine uptake defect.
Source: Regenstrief LOINC
Observation Required in Panel
Conditional
Type of Entry
Question expects user entry - requires response [Q]
Fully-Specified Name
- Component
- Carnitine.free (C0)/Palmitoylcarnitine (C16)
- Property
- SRto
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- Carnitine Free/C16 DBS-sRto
- Display Name
- C0/Palmitoylcarnitine (C16) (DBS) [Molar ratio]
- Consumer Name Alpha Get Info
- C0/Palmitoylcarnitine (C16), Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.24
- Last Updated
- Version 2.61
- Order vs. Observation
- Both
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 58092-8 | Acylcarnitine newborn screen panel |
| 53262-2 | Carnitine newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Carnitina libre/Palmitoilcarnitina (C16): Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Carnitine.libre (C0) / Palmitoylcarnitine (C16): |
| fr-CA | French (Canada) | Carnitine.libre (C0)/Palmitoylcarnitine (C16): |
| fr-FR | French (France) | Carnitine libre (C0)/palmitoylcarnitine (C16): |
| fr-BE | French (Belgium) | Carnitine.libre (C0)/Palmitoylcarnitine (C16): |
| it-IT | Italian (Italy) | Carnitina.libera (C0)/Palmitoilcarnitina (C16): Synonyms: Carnitina libera (C0) Chimica Punto nel tempo (episodio) Rapporto di sostanza Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | carnitine.vrij (C0)/palmitoylcarnitine (C16): |
| pt-BR | Portuguese (Brazil) | Carnitina.livre (C0)/Palmitoilcarnitina (C16): Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Карнитин.свободный(С0)/Пальмитоилкарнитин (C16): Synonyms: Количественный Кровь Кровь сухая капля Мольная доля; |
| tr-TR | Turkish (Turkey) | Karnitin.serb (C0)/Palmitoilkarnitin (C16): Synonyms: SubsOranı |
| zh-CN | Chinese (China) | 肉碱.游离型 (C0)/棕榈酰肉碱 (C16): Synonyms: 全血斑点(滤纸); |
Example Units
| Unit | Source |
|---|---|
| {Ratio} | Example UCUM Units |
53234-1 Carnitine free (C0)/Stearoylcarnitine (C18) [Molar ratio] in DBS
Term Description
Carnitine.free/Stearoylcarnitine is a secondary marker for Carnitine acylcarnitine translocase deficiency.
Source: Regenstrief LOINC
Part Descriptions
LP18431-4 Carnitine.free (C0)
Carnitine.free is a primary marker for carnitine uptake defect, propionic acidemia, maternal carnitine uptake defect, carnitine palmitoyltransferase I deficiency and primary lactic acidemia (various types). It is also a secondary marker for maternal glutaric acidemia type I.
Source: Regenstrief LOINC
LP70197-6 Stearoylcarnitine (C18)
Stearoylcarnitine is a primary marker for Carnitine palmitoyltransferase I deficiency, Carnitine acylcarnitine translocase deficiency, and Carnitine palmitoyltransferase II deficiency. Secondary marker for Long-chain L-3-Hydroxy dehydrogenase deficiency, Trifunctional protein deficiency, and Carnitine uptake defect.
Source: Regenstrief LOINC
Observation Required in Panel
Conditional
Type of Entry
Question expects user entry - requires response [Q]
Fully-Specified Name
- Component
- Carnitine.free (C0)/Stearoylcarnitine (C18)
- Property
- SRto
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- Carnitine Free/C18 DBS-sRto
- Display Name
- C0/Stearoylcarnitine (C18) (DBS) [Molar ratio]
- Consumer Name Alpha Get Info
- C0/Stearoylcarnitine (C18), Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.24
- Last Updated
- Version 2.61
- Order vs. Observation
- Both
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 58092-8 | Acylcarnitine newborn screen panel |
| 53262-2 | Carnitine newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Carnitina libre/Estearoilcarnitina (C18): Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Carnitine.libre (C0) / Estearoilcarnitina (C18): |
| fr-CA | French (Canada) | Carnitine.libre (C0)/Stéaroylcarnitine (C18): |
| fr-FR | French (France) | Carnitine libre (C0)/stéaroylcarnitine(C18): |
| fr-BE | French (Belgium) | Carnitine.libre (C0)/Stéaroylcarnitine (C18): |
| it-IT | Italian (Italy) | Carnitina.libera (C0)/Stearoilcarnitina (C18): Synonyms: Carnitina libera (C0) Chimica Punto nel tempo (episodio) Rapporto di sostanza Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | carnitine.vrij (C0)/stearoylcarnitine (C18): |
| pt-BR | Portuguese (Brazil) | Carnitina.livre (C0)/Estearoilcarnitina (C18): Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Карнитин.свободный(С0)/Стеароилкарнитин (C18): Synonyms: Количественный Кровь Кровь сухая капля Мольная доля; |
| tr-TR | Turkish (Turkey) | Karnitin.serb (C0)/Stearoilkarnitin (C18): Synonyms: SubsOranı |
| zh-CN | Chinese (China) | 肉碱.游离型 (C0)/硬脂酰肉碱 (C18): Synonyms: 全血斑点(滤纸); |
Example Units
| Unit | Source |
|---|---|
| {Ratio} | Example UCUM Units |
53235-8 Carnitine free (C0)/Palmitoylcarnitine (C16)+Stearoylcarnitine (C18) [Molar ratio] in DBS
Term Description
Carnitine.free/Palmityolcarnitine+Stearoylcarnitine is a primary marker for Carnitine palmitoyltransferase I deficiency. Secondary marker for Carnitine acylcarnitine translocase deficiency and Carnitine palmitoyltransferase II deficiency.
Source: Regenstrief LOINC
Part Descriptions
LP18431-4 Carnitine.free (C0)
Carnitine.free is a primary marker for carnitine uptake defect, propionic acidemia, maternal carnitine uptake defect, carnitine palmitoyltransferase I deficiency and primary lactic acidemia (various types). It is also a secondary marker for maternal glutaric acidemia type I.
Source: Regenstrief LOINC
Observation Required in Panel
Conditional
Type of Entry
Question expects user entry - requires response [Q]
Fully-Specified Name
- Component
- Carnitine.free (C0)/Palmitoylcarnitine (C16)+Stearoylcarnitine (C18)
- Property
- SRto
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- Carnitine Free/C16+C18 DBS-sRto
- Display Name
- C0/Palmitoylcarnitine (C16)+Stearoylcarnitine (C18) (DBS) [Molar ratio]
- Consumer Name Alpha Get Info
- C0/Palmitoylcarnitine (C16)+Stearoylcarnitine (C18), Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.24
- Last Updated
- Version 2.73
- Order vs. Observation
- Both
- Common Test Rank Get Info
- 19307
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 58092-8 | Acylcarnitine newborn screen panel |
| 53262-2 | Carnitine newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Carnitina libre/Palmitoilcarnitina (C16)+Estearoilcarnitina (C18): Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Carnitina libre (C0) / Palmitoilcarnitina (C16) + Estearoilcarnitina (C18): |
| fr-CA | French (Canada) | Carnitine.libre (C0)/Palmitoylcarnitine (C16)+Stéaroylcarnitine (C18): |
| fr-FR | French (France) | Carnitine libre (C0)/palmitoylcarnitine (C16)+stéaroylcarnitine(C18): |
| fr-BE | French (Belgium) | Carnitine.libre (C0)/Palmitoylcarnitine (C16)+Stearoylcarnitine (C18): |
| it-IT | Italian (Italy) | Carnitina.libera (C0)/Palmitoilcarnitina (C16)+Stearoilcarnitina (C18): Synonyms: Carnitina libera (C0) Chimica Punto nel tempo (episodio) Rapporto di sostanza Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | carnitine.vrij (C0)/palmitoylcarnitine (C16) + stearoylcarnitine (C18): |
| pt-BR | Portuguese (Brazil) | Carnitina.livre (C0)/Palmitoilcarnitina (C16)+Estearoilcarnitina (C18): Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Карнитин.свободный(С0)/Пальмитоилкарнитин (C16)+Стеароилкарнитин (C18): Synonyms: Количественный Кровь Кровь сухая капля Мольная доля; |
| tr-TR | Turkish (Turkey) | Karnitin.serb (C0)/Palmitoilkarnitin (C16)+Stearoilkarnitin (C18): Synonyms: SubsOranı |
| zh-CN | Chinese (China) | 肉碱.游离型 (C0)/棕榈酰肉碱 (C16)+硬脂酰肉碱 (C18): Synonyms: 全血斑点(滤纸); |
Example Units
| Unit | Source |
|---|---|
| {Ratio} | Example UCUM Units |
53236-6 Carnitine.free (C0)+Acetylcarnitine (C2)+Propionylcarnitine (C3)+Palmitoylcarnitine (C16)+Oleoylcarnitine (C18:1)+Stearoylcarnitine (C18)/Citrulline [Molar ratio] in DBS
Term Description
Carnitine.free+Acetylcarnitine+Propionylcarnitine+Palmitoylcarnitine+Oleoylcarnitine+Stearoylcarnitine/Citrulline is a primary marker for Carnitine uptake defect, Maternal carnitine uptake defect. Secondary marker for Maternal glutaric acidemia type I and Maternal 3-Methylcrotonyl-CoA carboxylase deficiency.
Source: Regenstrief LOINC
Part Descriptions
LP70358-4 Citrulline
Citrulline is an alpha amino acid, produced from ornithine and carbamoyl phosphate during the urea cycle. Its name is derived from citrullus, the Latin word for watermelon, from which it was first isolated.
Copyright Text is available under the Creative Commons Attribution/Share-Alike License. See http://creativecommons.org/licenses/by-sa/3.0/ for details.
Source: Wikipedia, Citrulline (Wikipedia)
Observation Required in Panel
Conditional
Type of Entry
Question expects user entry - requires response [Q]
Fully-Specified Name
- Component
- Carnitine.free (C0)+Acetylcarnitine (C2)+Propionylcarnitine (C3)+Palmitoylcarnitine (C16)+Oleoylcarnitine (C18:1)+Stearoylcarnitine (C18)/Citrulline
- Property
- SRto
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- C0+C2+C3+C16+C18/Cit DBS-sRto
- Display Name
- C0+C2+C3+C16+C18:1+C18/Citrulline (DBS) [Molar ratio]
- Consumer Name Alpha Get Info
- C0+C2+C3+C16+C18:1+C18/Citrulline, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.24
- Last Updated
- Version 2.73
- Order vs. Observation
- Both
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 58092-8 | Acylcarnitine newborn screen panel |
| 53262-2 | Carnitine newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Carnitina.libre (C0)+Acetilcarnitina (C2)+Propionilcarnitina (C3)+Palmitoilcarnitina (C16)+Oleoilcarnitina (C18: Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Carnitina libre (C0) + Acetilcarnitina (C2) + Propionilcarnitina (C3) + Palmitoilcarnitina (C16) + Oleoilcarnitina (C18: |
| fr-CA | French (Canada) | Carnitine.libre (C0)+Acylcarnitine (C2)+Propionylcarnitine (C3)+Palmitoylcarnitine (C16)+Oléoylcarnitine (C18: |
| fr-FR | French (France) | Carnitine libre(C0)+acétylcarnitine(C2)+propionylcarnitine(C3)+palmitoylcarnitine(C16)+oléoylcarnitine(C18: |
| fr-BE | French (Belgium) | Carnitine.free (C0)+Acetylcarnitine (C2)+Propionylcarnitine (C3)+Palmitoylcarnitine (C16)+Oleoylcarnitine (C18: |
| it-IT | Italian (Italy) | Carnitina.libera (C0)+Acetilcarnitina (C2)+Propionilcarnitina (C3)+Palmitoilcarnitina (C16)+Oleoilcarnitina (C18: Synonyms: Carnitina libera (C0) Chimica Punto nel tempo (episodio) Rapporto di sostanza Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | carnitine.vrij (C0) + acetylcarnitine (C2) + propionylcarnitine (C3) + palmitoylcarnitine (C16) + oleoylcarnitine (C18: |
| pt-BR | Portuguese (Brazil) | Carnitina.livre (C0)+Acetilcarnitina (C2)+Propionilcarnitina (C3)+Palmitoilcarnitina (C16)+Oleoilcarnitina (C18: Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Карнитин.свободный (C0)+Ацетилкарнитин (C2)+Пропионилкарнитин (C3)+Пальмитоилкарнитин (C16)+Олеоилкарнитин (C18: Synonyms: Количественный Кровь Кровь сухая капля Мольная доля; |
| tr-TR | Turkish (Turkey) | Karnitin.serb (C0)+Asetilkarnitin (C2)+Propiyonilkarnitin (C3)+Palmitoilkarnitin (C16)+Oleoilkarnitin (C18: Synonyms: SubsOranı |
| zh-CN | Chinese (China) | 肉碱.游离型 (C0)+酰基肉碱 (C2)+丙酰肉碱 (C3)+棕榈酰肉碱 (C16)+油酰肉碱 (C18: Synonyms: Ⅰ Citr I 丙酰肉碱（肉毒碱、 |
Example Units
| Unit | Source |
|---|---|
| {Ratio} | Example UCUM Units |
75211-3 Propionylcarnitine (C3)+Palmitoylcarnitine (C16) [Moles/volume] in DBS
Part Descriptions
LP183637-0 Propionylcarnitine (C3)+Palmitoylcarnitine (C16)
C3 (Propionylcarnitine)+C16 (Palmitoylcarnitine) is a marker for carnitine uptake defect, which is one of the core conditions on the HHS Secretary's Recommended Uniform Screening Panel for newborn screening.
Source: Newborn screening workgroup
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Propionylcarnitine (C3)+Palmitoylcarnitine (C16)
- Property
- SCnc
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- C3+C16 DBS-sCnc
- Display Name
- C3+C16 (DBS) [Moles/Vol]
- Consumer Name Alpha Get Info
- C3+C16, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.48
- Last Updated
- Version 2.73
- Order vs. Observation
- Both
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 58092-8 | Acylcarnitine newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Propionilcarnitina (C3)+Palmitoilcarnitina (C16): Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Propionilcarnitina (C3) + Palmitoilcarnitina (C16): |
| fr-FR | French (France) | Propionylcarnitine (C3)+palmitoylcarnitine (C16): |
| it-IT | Italian (Italy) | Propionilcarnitina (C3)+Palmitoilcarnitina (C16): Synonyms: Chimica Concentrazione di Sostanza Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | propionylcarnitine (C3) + palmitoylcarnitine (C16): |
| pt-BR | Portuguese (Brazil) | Propionilcarnitina (C3)+Palmitoilcarnitina (C16): |
| ru-RU | Russian (Russian Federation) | Пропионилкарнитин (C3)+Пальмитоилкарнитин (C16): Synonyms: Количественный Кровь Кровь сухая капля Молярность; |
| tr-TR | Turkish (Turkey) | Propionilcarnitine (C3)+Palmitoilcarnitine (C16): |
| zh-CN | Chinese (China) | 丙酰肉碱 (C3)+棕榈酰肉碱 (C16): Synonyms: 丙酰肉碱（肉毒碱、 |
Example Units
| Unit | Source |
|---|---|
| umol/L | Example UCUM Units |
75212-1 Malonylcarnitine (C3-DC)/Decanoylcarnitine (C10) [Molar ratio] in DBS
Term Description
C3DC (Malonylcarnitine)/C10 (Decanoylcarnitine) is a marker for malonic acidemia (also known as malonic aciduria), which is one of the secondary conditions on the HHS Secretary's Recommended Uniform Screening Panel for newborn screening.
Source: Regenstrief LOINC
Part Descriptions
LP70167-9 Decanoylcarnitine (C10)
Decanoylcarnitine is a primary marker for Medium-chain acyl-CoA dehydrogenase deficiency and Glutaric acidemia type II. Secondary marker for Medium-chain ketoacyl-CoA thiolase deficiency.
Source: Regenstrief LOINC
LP70363-4 Malonylcarnitine (C3-DC)
Malonylcarnitine is a metabolite that accumulates with specific disruption of fatty-acid oxidation caused by impaired entry of long-chain acylcarnitine esters into the mitochondria and failure of the mitochondrial respiratory chain at complex 11 and malonyl-CoA decarboxylase (EC 4.1.1.9) deficiency [OMIM: 248360]. Malonylcarnitine has also been found to accumulate in some newborns with medium-chain acyl-CoA dehydrogenase (EC 1.3.99.3) deficiency [OMIM: 201450], PMID: 11558490, PMID: 15303003, PMID: 12651823.
Copyright Copyright ©2005-2009 Genome Alberta (Reference to original publication: Wishart DS, Knox C, Guo AC, et al. HMDB: a knowledgebase for the human metabolome. Nucleic Acids Res. 2009 37(Database issue):D603-610.)
Source: Human Metabolome Database, Malonylcarnitine
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Malonylcarnitine (C3-DC)/Decanoylcarnitine (C10)
- Property
- SRto
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- Malonylcarn/C10 DBS-sRto
- Display Name
- C3-DC/Decanoylcarnitine (C10) (DBS) [Molar ratio]
- Consumer Name Alpha Get Info
- C3-DC/Decanoylcarnitine (C10), Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.48
- Last Updated
- Version 2.73
- Order vs. Observation
- Both
- Common Test Rank Get Info
- 18573
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 58092-8 | Acylcarnitine newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Malonilcarnitina (C3-DC)/Decanoilcarnitina (C10): Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Malonilcarnitina (C3-DC) / Decanoilcarnitina (C10): |
| fr-CA | French (Canada) | Malonylcarnitine (C3-DC)/Décanoylcarnitine (C10): |
| fr-FR | French (France) | Malonylcarnitine (C3-DC)/décanoylcarnitine (C10): |
| fr-BE | French (Belgium) | Malonylcarnitine (C3-DC)/Décanoylcarnitine (C10): |
| it-IT | Italian (Italy) | Malonilcarnitina (C3-DC)/Decanoilcarnitina (C10): Synonyms: Chimica Punto nel tempo (episodio) Rapporto di sostanza Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | malonylcarnitine (C3-DC)/decanoylcarnitine (C10): |
| pt-BR | Portuguese (Brazil) | Malonilcarnitina (C3-DC)/Decanoilcarnitina (C10): |
| ru-RU | Russian (Russian Federation) | Малонилкарнитин (C3-DC)/Деканоилкарнитин (C10): Synonyms: Количественный Кровь Кровь сухая капля Мольная доля; |
| tr-TR | Turkish (Turkey) | Malonilkarnitin (C3-DC)/Dekanoilkarnitin (C10): Synonyms: SubsOranı |
| zh-CN | Chinese (China) | 丙二酰肉碱 (C3-DC)/癸酰肉碱 (C10): Synonyms: 丙二酰肉碱（肉毒碱、 |
Example Units
| Unit | Source |
|---|---|
| {ratio} | Example UCUM Units |
54462-7 Malonylcarnitine (C3-DC) [Moles/volume] in DBS
Part Descriptions
LP70363-4 Malonylcarnitine (C3-DC)
Malonylcarnitine is a metabolite that accumulates with specific disruption of fatty-acid oxidation caused by impaired entry of long-chain acylcarnitine esters into the mitochondria and failure of the mitochondrial respiratory chain at complex 11 and malonyl-CoA decarboxylase (EC 4.1.1.9) deficiency [OMIM: 248360]. Malonylcarnitine has also been found to accumulate in some newborns with medium-chain acyl-CoA dehydrogenase (EC 1.3.99.3) deficiency [OMIM: 201450], PMID: 11558490, PMID: 15303003, PMID: 12651823.
Copyright Copyright ©2005-2009 Genome Alberta (Reference to original publication: Wishart DS, Knox C, Guo AC, et al. HMDB: a knowledgebase for the human metabolome. Nucleic Acids Res. 2009 37(Database issue):D603-610.)
Source: Human Metabolome Database, Malonylcarnitine
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Malonylcarnitine (C3-DC)
- Property
- SCnc
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- Malonylcarn DBS-sCnc
- Display Name
- C3-DC (DBS) [Moles/Vol]
- Consumer Name Alpha Get Info
- C3-DC, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.27
- Last Updated
- Version 2.70
- Order vs. Observation
- Both
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 58092-8 | Acylcarnitine newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Malonilcarnitina (C3-DC): Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Malonilcarnitina (C3-DC): |
| et-EE | Estonian (Estonia) | Malonüülkarnitiin (C3-DC): Synonyms: Aine kontsentratsioon Juhuslik Kvantitatiivne Veri |
| fr-CA | French (Canada) | Malonylcarnitine (C3-DC): |
| fr-FR | French (France) | Malonylcarnitine (C3-DC): |
| fr-BE | French (Belgium) | Malonylcarnitine (C3-DC): |
| it-IT | Italian (Italy) | Malonilcarnitina (C3-DC): Synonyms: Chimica Concentrazione di Sostanza Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | malonylcarnitine (C3-DC): |
| pt-BR | Portuguese (Brazil) | Malonilcarnitina (C3-DC): Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Малонилкарнитин (C3-DC): Synonyms: Количественный Кровь Кровь сухая капля Молярность; |
| tr-TR | Turkish (Turkey) | Malonilkarnitin (C3-DC): |
| zh-CN | Chinese (China) | 丙二酰肉碱 (C3-DC): Synonyms: 丙二酰肉碱（肉毒碱、 |
Example Units
| Unit | Source |
|---|---|
| umol/L | Example UCUM Units |
75213-9 Malonylcarnitine (C3-DC)+3-Hydroxybutyrylcarnitine (C4-OH)/Decanoylcarnitine (C10) [Molar ratio] in DBS
Term Description
C3DC (Malonylcarnitine)+C4OH (3-Hydroxybutyrylcarnitine)/C10 (Decanoylcarnitine) is a marker for malonic acidemia (also known as malonic aciduria), which is one of the secondary conditions on the HHS Secretary's Recommended Uniform Screening Panel for newborn screening.
Source: Regenstrief LOINC
Part Descriptions
LP70167-9 Decanoylcarnitine (C10)
Decanoylcarnitine is a primary marker for Medium-chain acyl-CoA dehydrogenase deficiency and Glutaric acidemia type II. Secondary marker for Medium-chain ketoacyl-CoA thiolase deficiency.
Source: Regenstrief LOINC
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Malonylcarnitine (C3-DC)+3-Hydroxybutyrylcarnitine (C4-OH)/Decanoylcarnitine (C10)
- Property
- SRto
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- Malonyl+3OHbutyrylcarn/C10 DBS-sRto
- Display Name
- C3-DC+C4-OH/Decanoylcarnitine (C10) (DBS) [Molar ratio]
- Consumer Name Alpha Get Info
- C3-DC+C4-OH/Decanoylcarnitine (C10), Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.48
- Last Updated
- Version 2.61
- Order vs. Observation
- Both
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 58092-8 | Acylcarnitine newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Malonilcarnitina (C3-DC)+3-hidroxibutirilcarnitina (C4-OH)/Decanoilcarnitina (C10): Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Malonilcarnitina (C3-DC) + 3-Hidroxibutirilcarnitina (C4-OH) / Decanoilcarnitina (C10): |
| fr-CA | French (Canada) | Malonylcarnitine (C3-DC)+3-hydroxybutyrylcarnitine (C4-OH)/Décanoylcarnitine (C10): |
| fr-FR | French (France) | Malonylcarnitine (C3-DC)+3-hydroxybutyrylcarnitine (C4-OH)/décanoylcarnitine (C10): |
| it-IT | Italian (Italy) | Malonilcarnitina (C3-DC)+3-Idrossibutirilcarnitina (C4-OH)/Decanoilcarnitina (C10): Synonyms: Chimica Punto nel tempo (episodio) Rapporto di sostanza Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | malonylcarnitine (C3-DC) + 3-hydroxybutyrylcarnitine (C4-OH)/decanoylcarnitine (C10): |
| pt-BR | Portuguese (Brazil) | Malonilcarnitina (C3-DC)+3-Hidroxibutirilcarnitina (C4-OH)/Decanoilcarnitina (C10): |
| ru-RU | Russian (Russian Federation) | Малонилкарнитин (C3-DC)+3-Гидроксибутирилкарнитин (C4-OH)/Деканоилкарнитин (C10): Synonyms: Количественный Кровь Кровь сухая капля Мольная доля; |
| tr-TR | Turkish (Turkey) | Malonilkarnitin (C3-DC)+3-Hidroksibütirilkarnitin (C4-OH)/Dekanoilkarnitin (C10): Synonyms: SubsOranı |
| zh-CN | Chinese (China) | 丙二酰肉碱 (C3-DC)+3-羟基异丁酰肉碱 (C4-OH)/癸酰肉碱 (C10): Synonyms: 3-羟基丁酰肉碱（肉毒碱、 |
Example Units
| Unit | Source |
|---|---|
| {ratio} | Example UCUM Units |
50157-7 Acetylcarnitine (C2) [Moles/volume] in DBS
Part Descriptions
LP19301-8 Acetylcarnitine (C2)
An acetic acid ester of CARNITINE that facilitates movement of ACETYL COA into the matrices of mammalian MITOCHONDRIA during the oxidation of FATTY ACIDS.
Source: National Library of Medicine, MeSH 2006
LP19301-8 Acetylcarnitine (C2)
Acetylcarnitine is a primary marker for Carnitine uptake defect. Secondary marker for Short-chain L-3-hydroxy acyl-CoA dehydrogenase deficiency, Maternal carnitine uptake defect, Maternal 3-Methylcrotonyl-CoA carboxylase deficiency, Formiminoglutamic acidemia, and Succinyl-CoA ligase deficiency.
Source: Regenstrief LOINC
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Acetylcarnitine (C2)
- Property
- SCnc
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- Acetylcarn DBS-sCnc
- Display Name
- C2 (DBS) [Moles/Vol]
- Consumer Name Alpha Get Info
- C2, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.22
- Last Updated
- Version 2.73
- Order vs. Observation
- Both
- Common Test Rank Get Info
- 17972
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 58092-8 | Acylcarnitine newborn screen panel |
| 53262-2 | Carnitine newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Acetilcarnitina (C2): Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Acetilcarnitina (C2): |
| et-EE | Estonian (Estonia) | Atsetüülkarnitiin (C2): Synonyms: Aine kontsentratsioon Juhuslik Kvantitatiivne Veri |
| fr-CA | French (Canada) | Acétylcarnitine (C2): |
| fr-FR | French (France) | Acétylcarnitine (C2): |
| fr-BE | French (Belgium) | Acétylcarnitine (C2): |
| it-IT | Italian (Italy) | Acetilcarnitina (C2): Synonyms: Chimica Concentrazione di Sostanza Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | acetylcarnitine (C2): |
| pt-BR | Portuguese (Brazil) | Acetilcarnitina (C2): Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Ацетилкарнитин (C2): Synonyms: Количественный Кровь Кровь сухая капля Молярность; |
| tr-TR | Turkish (Turkey) | Asetilkarnitin (C2): |
| zh-CN | Chinese (China) | 乙酰肉碱 (C2): Synonyms: 乙酰肉碱（肉毒碱、 |
Example Units
| Unit | Source |
|---|---|
| umol/L | Example UCUM Units |
53166-5 Butyrylcarnitine+Isobutyrylcarnitine (C4) [Moles/volume] in DBS
Part Descriptions
LP66333-3 Butyrylcarnitine+Isobutyrylcarnitine (C4)
Butyrylcarnitine+Isobutyrylcarnitine is a primary marker for Short-chain acyl-CoA dehydrogenase deficiency, Glutaric acidemia type II and Isobutyrylglycinuria, Ethylmalonic encephalopathy.
Source: Regenstrief LOINC
Observation Required in Panel
Conditional
Type of Entry
Question expects user entry - requires response [Q]
Fully-Specified Name
- Component
- Butyrylcarnitine+Isobutyrylcarnitine (C4)
- Property
- SCnc
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- Butyryl+Isobutyrylcarn DBS-sCnc
- Display Name
- Butyrylcarnitine+Isobutyrylcarnitine (C4) (DBS) [Moles/Vol]
- Consumer Name Alpha Get Info
- Butyrylcarnitine+Isobutyrylcarnitine (C4), Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.24
- Last Updated
- Version 2.73
- Order vs. Observation
- Observation
- Common Test Rank Get Info
- 17344
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 58092-8 | Acylcarnitine newborn screen panel |
| 53262-2 | Carnitine newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Butirilcarnitina+Isobutirilcarnitina: Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Butirilcarnitina + Isobutirilcarnitina (C4): |
| et-EE | Estonian (Estonia) | Butürüülkarnitiin + isobutürüülkarnitiin (C4): Synonyms: Aine kontsentratsioon Juhuslik Kvantitatiivne Veri |
| fr-CA | French (Canada) | Butyrylcarnitine+Isobutyrylcarnitine (C4): |
| fr-FR | French (France) | Butyrylcarnitine+isobutyrylcarnitine (C4): |
| fr-BE | French (Belgium) | Butyrylcarnitine+Isobutyrylcarnitine (C4): |
| it-IT | Italian (Italy) | Butirrilcarnitina+Isobutirrilcarnitina (C4): Synonyms: Chimica Concentrazione di Sostanza Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | butyrylcarnitine + isobutyrylcarnitine (C4): |
| pt-BR | Portuguese (Brazil) | Butirilcarnitina+Isobutirilcarnitina (C4): Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Бутирилкарнитин+Изобутирилкарнитин (C4): Synonyms: Количественный Кровь Кровь сухая капля Молярность; |
| tr-TR | Turkish (Turkey) | Bütirilkarnitin+izobütirilkarnitin (C4): |
| zh-CN | Chinese (China) | 丁酰肉碱+异丁酰肉碱 (C4): Synonyms: 丁酰肉碱（肉毒碱、 |
Example Units
| Unit | Source |
|---|---|
| umol/L | Example UCUM Units |
53167-3 Butyrylcarnitine+Isobutyrylcarnitine (C4)/Acetylcarnitine (C2) [Molar ratio] in DBS
Term Description
Butyrylcarnitine+Isobutyrylcarnitine/Acetylcarnitine is a primary marker for Short-chain acyl-CoA dehydrogenase deficiency, Glutaric acidemia type II and Isobutyrylglycinuria, Ethylmalonic encephalopathy.
Source: Regenstrief LOINC
Part Descriptions
LP66333-3 Butyrylcarnitine+Isobutyrylcarnitine (C4)
Butyrylcarnitine+Isobutyrylcarnitine is a primary marker for Short-chain acyl-CoA dehydrogenase deficiency, Glutaric acidemia type II and Isobutyrylglycinuria, Ethylmalonic encephalopathy.
Source: Regenstrief LOINC
LP70165-3 Acetylcarnitine (C2)
Acetyl-L-carnitine or ALCAR, is an acetylated form of L-carnitine. ALCAR has been claimed to be superior to normal L-carnitine in terms of bioavailability. However, at least one study has suggested that the acetylated form may have a lower oral bioavailability.
Copyright Text is available under the Creative Commons Attribution/Share-Alike License. See http://creativecommons.org/licenses/by-sa/3.0/ for details.
Source: Wikipedia, Acetylcarnitine
Observation Required in Panel
Conditional
Type of Entry
Question expects user entry - requires response [Q]
Fully-Specified Name
- Component
- Butyrylcarnitine+Isobutyrylcarnitine (C4)/Acetylcarnitine (C2)
- Property
- SRto
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- Butyryl+Isobutyrylcarn/C2 DBS-sRto
- Display Name
- Butyrylcarnitine+Isobutyrylcarnitine (C4)/Acetylcarnitine (C2) (DBS) [Molar ratio]
- Consumer Name Alpha Get Info
- Butyrylcarnitine+Isobutyrylcarnitine (C4)/Acetylcarnitine (C2), Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.24
- Last Updated
- Version 2.61
- Order vs. Observation
- Both
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 58092-8 | Acylcarnitine newborn screen panel |
| 53262-2 | Carnitine newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Butirilcarnitina+Isobutirilcarnitina/Acetilcarnitina (C2): Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Butirilcarnitina + Isobutirilcarnitina (C4) / Acetilcarnitina (C2): |
| fr-CA | French (Canada) | Butyrylcarnitine+Isobutyrylcarnitine (C4)/Acétylcarnitine (C2): |
| fr-FR | French (France) | Butyrylcarnitine+isobutyrylcarnitine (C4)/acétylcarnitine (C2): |
| fr-BE | French (Belgium) | Butyrylcarnitine+Isobutyrylcarnitine (C4)/Acétylcarnitine (C2): |
| it-IT | Italian (Italy) | Butirrilcarnitina+Isobutirrilcarnitina (C4)/Acetilcarnitina (C2): Synonyms: Chimica Punto nel tempo (episodio) Rapporto di sostanza Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | butyrylcarnitine + isobutyrylcarnitine (C4)/acetylcarnitine (C2): |
| pt-BR | Portuguese (Brazil) | Butirilcarnitina+Isobutirilcarnitina (C4)/Acetilcarnitina (C2): Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Бутирилкарнитин+Изобутирилкарнитин (C4)/Ацетилкарнитин (C2): Synonyms: Количественный Кровь Кровь сухая капля Мольная доля; |
| tr-TR | Turkish (Turkey) | Bütirilkarnitin+izobütirilkarnitin (C4)/Asetilkarnitin (C2): Synonyms: SubsOranı |
| zh-CN | Chinese (China) | 丁酰肉碱+异丁酰肉碱 (C4)/乙酰肉碱 (C2): Synonyms: 丁酰肉碱（肉毒碱、 |
Example Units
| Unit | Source |
|---|---|
| {Ratio} | Example UCUM Units |
53168-1 Butyrylcarnitine+Isobutyrylcarnitine (C4)/Propionylcarnitine (C3) [Molar ratio] in DBS
Term Description
Butyrylcarnitine+Isobutyrylcarnitine/Propionylcarnitine is a primary marker for Short-chain acyl-CoA dehydrogenase deficiency, Glutaric acidemia type II and Isobutyrylglycinuria, Ethylmalonic encephalopathy.
Source: Regenstrief LOINC
Part Descriptions
LP66333-3 Butyrylcarnitine+Isobutyrylcarnitine (C4)
Butyrylcarnitine+Isobutyrylcarnitine is a primary marker for Short-chain acyl-CoA dehydrogenase deficiency, Glutaric acidemia type II and Isobutyrylglycinuria, Ethylmalonic encephalopathy.
Source: Regenstrief LOINC
LP70306-3 Propionylcarnitine (C3)
Propionylcarnitine is a primary marker for Propionic acidemia, Methylmalonic acidemia (mut), Methylmalonic acidemia (Cbl A, B), Methylmalonic aciduria and homocystinuria, and Succinyl-CoA ligase deficiency. Secondary marker for Multiple carboxylase deficiency.
Source: Regenstrief LOINC
Observation Required in Panel
Conditional
Type of Entry
Question expects user entry - requires response [Q]
Fully-Specified Name
- Component
- Butyrylcarnitine+Isobutyrylcarnitine (C4)/Propionylcarnitine (C3)
- Property
- SRto
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- Butyryl+Isobutyrylcarn/C3 DBS-sRto
- Display Name
- Butyrylcarnitine+Isobutyrylcarnitine (C4)/Propionylcarnitine (C3) (DBS) [Molar ratio]
- Consumer Name Alpha Get Info
- Butyrylcarnitine+Isobutyrylcarnitine (C4)/Propionylcarnitine (C3), Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.24
- Last Updated
- Version 2.61
- Order vs. Observation
- Both
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 58092-8 | Acylcarnitine newborn screen panel |
| 53262-2 | Carnitine newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Butirilcarnitina+Isobutirilcarnitina/Propionilcarnitina (C39: Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Butirilcarnitina + Isobutirilcarnitina (C4) / Propionilcarnitina (C3): |
| fr-CA | French (Canada) | Butyrylcarnitine+Isobutyrylcarnitine (C4)/Propionylcarnitine (C3): |
| fr-FR | French (France) | Butyrylcarnitine+isobutyrylcarnitine (C4)/propionycarnitine (C3): |
| fr-BE | French (Belgium) | Butyrylcarnitine+Isobutyrylcarnitine (C4)/Propionylcarnitine (C3): |
| it-IT | Italian (Italy) | Butirrilcarnitina+Isobutirrilcarnitina (C4)/Propionilcarnitina (C3): Synonyms: Chimica Punto nel tempo (episodio) Rapporto di sostanza Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | butyrylcarnitine + isobutyrylcarnitine (C4)/propionylcarnitine (C3): |
| pt-BR | Portuguese (Brazil) | Butirilcarnitina+Isobutirilcarnitina (C4)/Propionilcarnitina (C3): Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Бутирилкарнитин+Изобутирилкарнитин (C4)/Пропионилкарнитин (C3): Synonyms: Количественный Кровь Кровь сухая капля Мольная доля; |
| tr-TR | Turkish (Turkey) | Bütirilkarnitin+izobütirilkarnitin (C4)/Propiyonilkarnitin (C3): Synonyms: SubsOranı |
| zh-CN | Chinese (China) | 丁酰肉碱+异丁酰肉碱 (C4)/丙酰肉碱 (C3): Synonyms: 丁酰肉碱（肉毒碱、 |
Example Units
| Unit | Source |
|---|---|
| {Ratio} | Example UCUM Units |
53169-9 Butyrylcarnitine+Isobutyrylcarnitine (C4)/Octanoylcarnitine (C8) [Molar ratio] in DBS
Term Description
Butyrylcarnitine+Isobutyrylcarnitine/Octanoylcarnitine is a primary marker for Short-chain acyl-CoA dehydrogenase deficiency, Isobutyrylglycinuria and Ethylmalonic encephalopathy.
Source: Regenstrief LOINC
Part Descriptions
LP66333-3 Butyrylcarnitine+Isobutyrylcarnitine (C4)
Butyrylcarnitine+Isobutyrylcarnitine is a primary marker for Short-chain acyl-CoA dehydrogenase deficiency, Glutaric acidemia type II and Isobutyrylglycinuria, Ethylmalonic encephalopathy.
Source: Regenstrief LOINC
LP70166-1 Octanoylcarnitine (C8)
Octanoylcarnitine is a primary marker for Medium-chain acyl-CoA dehydrogenase deficiency, Glutaric acidemia type II and Medium-chain ketoacyl-CoA thiolase deficiency.
Source: Regenstrief LOINC
Observation Required in Panel
Conditional
Type of Entry
Question expects user entry - requires response [Q]
Fully-Specified Name
- Component
- Butyrylcarnitine+Isobutyrylcarnitine (C4)/Octanoylcarnitine (C8)
- Property
- SRto
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- Butyryl+Isobutyrylcarn/C8 DBS-sRto
- Display Name
- Butyrylcarnitine+Isobutyrylcarnitine (C4)/Octanoylcarnitine (C8) (DBS) [Molar ratio]
- Consumer Name Alpha Get Info
- Butyrylcarnitine+Isobutyrylcarnitine (C4)/Octanoylcarnitine (C8), Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.24
- Last Updated
- Version 2.61
- Order vs. Observation
- Both
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 58092-8 | Acylcarnitine newborn screen panel |
| 53262-2 | Carnitine newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Butirilcarnitina+Isobutirilcarnitina/Octanoilcarnitina (C8): Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Butirilcarnitina + Isobutirilcarnitina (C4) / Octanoilcarnitina (C8): |
| fr-CA | French (Canada) | Butyrylcarnitine+Isobutyrylcarnitine (C4)/Octanoylcarnitine (C8): |
| fr-FR | French (France) | Butyrylcarnitine+isobutyrylcarnitine (C4)/octanoylcarnitine (C8): |
| fr-BE | French (Belgium) | Butyrylcarnitine+Isobutyrylcarnitine (C4)/Octanoylcarnitine (C8): |
| it-IT | Italian (Italy) | Butirrilcarnitina+Isobutirrilcarnitina (C4)/Octanoilcarnitina (C8): Synonyms: Chimica Punto nel tempo (episodio) Rapporto di sostanza Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | butyrylcarnitine + isobutyrylcarnitine (C4)/octanoylcarnitine (C8): |
| pt-BR | Portuguese (Brazil) | Butirilcarnitina+Isobutirilcarnitina (C4)/Octanoilcarnitina (C8): Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Бутирилкарнитин+Изобутирилкарнитин (C4)/Октаноилкарнитин (C8): Synonyms: Количественный Кровь Кровь сухая капля Мольная доля; |
| tr-TR | Turkish (Turkey) | Bütirilkarnitin+izobütirilkarnitin (C4)/Oktanoilkarnitin (C8): Synonyms: SubsOranı |
| zh-CN | Chinese (China) | 丁酰肉碱+异丁酰肉碱 (C4)/辛酰肉碱 (C8): Synonyms: 丁酰肉碱（肉毒碱、 |
Example Units
| Unit | Source |
|---|---|
| {Ratio} | Example UCUM Units |
50102-3 3-Hydroxybutyrylcarnitine (C4-OH) [Moles/volume] in DBS
Part Descriptions
LP19307-5 3-Hydroxybutyrylcarnitine (C4-OH)
3-Hydroxybutyrylcarnitine is a primary marker for Short-chain L-3-hydroxy acyl-CoA dehydrogenase deficiency.
Source: Regenstrief LOINC
Observation Required in Panel
Conditional
Type of Entry
Question expects user entry - requires response [Q]
Fully-Specified Name
- Component
- 3-Hydroxybutyrylcarnitine (C4-OH)
- Property
- SCnc
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- 3OH-Butyrcarn DBS-sCnc
- Display Name
- C4-OH (DBS) [Moles/Vol]
- Consumer Name Alpha Get Info
- C4-OH, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.22
- Last Updated
- Version 2.70
- Order vs. Observation
- Both
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 58092-8 | Acylcarnitine newborn screen panel |
| 53262-2 | Carnitine newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | 3-Hidroxibutirilcarnitina (C4-OH): Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | 3-hidroxibutirilcarnitina (C4-OH): |
| et-EE | Estonian (Estonia) | 3-hüdroksübutürüülkarnitiin (C4-OH): Synonyms: Aine kontsentratsioon Juhuslik Kvantitatiivne Veri |
| fr-CA | French (Canada) | 3-hydroxybutyrylcarnitine (C4-OH): |
| fr-FR | French (France) | 3-hydroxybutyrylcarnitine (C4-OH): |
| fr-BE | French (Belgium) | 3-hydroxybutyrylcarnitine (C4-OH): |
| it-IT | Italian (Italy) | 3-Idrossibutirrilcarnitina (C4-OH): Synonyms: Chimica Concentrazione di Sostanza Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | 3-hydroxybutyrylcarnitine (C4-OH): |
| pt-BR | Portuguese (Brazil) | 3-Hidroxibutirilcarnitina (C4-OH): Synonyms: ; |
| ru-RU | Russian (Russian Federation) | 3-Гидроксибутирилкарнитин (C4-OH): Synonyms: Количественный Кровь Кровь сухая капля Молярность; |
| tr-TR | Turkish (Turkey) | 3-Hidroksibütirilkarnitin (C4-OH): |
| zh-CN | Chinese (China) | 3-羟基丁酰肉碱 (C4-OH): Synonyms: 3-羟基丁酰肉碱（肉毒碱、 |
Example Units
| Unit | Source |
|---|---|
| umol/L | Example UCUM Units |
45211-0 Hexanoylcarnitine (C6) [Moles/volume] in DBS
Part Descriptions
LP19308-3 Hexanoylcarnitine (C6)
Hexanoylcarnitine is a secondary marker for Medium-chain acyl-CoA dehydrogenase deficiency, and Glutaric acidemia type II.
Source: Regenstrief Institute
Observation Required in Panel
Conditional
Type of Entry
Question expects user entry - requires response [Q]
Fully-Specified Name
- Component
- Hexanoylcarnitine (C6)
- Property
- SCnc
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- Hexanoylcarn DBS-sCnc
- Display Name
- C6 (DBS) [Moles/Vol]
- Consumer Name Alpha Get Info
- C6, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.17
- Last Updated
- Version 2.73
- Order vs. Observation
- Both
- Common Test Rank Get Info
- 16684
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 58092-8 | Acylcarnitine newborn screen panel |
| 53262-2 | Carnitine newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Hexanoilcarnitina (C6): Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Hexanoilcarnitina (C6): |
| et-EE | Estonian (Estonia) | Heksanoüülkarnitiin (C6): Synonyms: Aine kontsentratsioon Juhuslik Kvantitatiivne Veri |
| fr-CA | French (Canada) | Hexanoylcarnitine (C6): |
| fr-FR | French (France) | Hexanoylcarnitine (C6): |
| fr-BE | French (Belgium) | Hexanoylcarnitine (C6): |
| it-IT | Italian (Italy) | Esanoilcarnitina (C6): Synonyms: Chimica Concentrazione di Sostanza Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | hexanoylcarnitine (C6): |
| pt-BR | Portuguese (Brazil) | Hexanoilcarnitina (C6): Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Гексаноилкарнитин (C6): Synonyms: Количественный Кровь Кровь сухая капля Молярность; |
| tr-TR | Turkish (Turkey) | Hekzanoilkarnitin (C6): |
| zh-CN | Chinese (China) | 己酰肉碱 (C6): Synonyms: 克分子浓度; |
Example Units
| Unit | Source |
|---|---|
| umol/L | Example UCUM Units |
53173-1 3-Hydroxyhexanoylcarnitine (C6-OH) [Moles/volume] in DBS
Part Descriptions
LP28987-3 3-Hydroxyhexanoylcarnitine (C6-OH)
3-Hydroxyhexanoylcarnitine is a primary marker for Short-chain L-3-hydroxy acyl-CoA dehydrogenase deficiency and Medium-chain ketoacyl-CoA thiolase deficiency. Secondary marker for Short-chain L-3-hydroxy acyl-CoA dehydrogenase deficiency, Medium-chain ketoacyl-CoA thiolase deficiency
Source: Regenstrief LOINC
Observation Required in Panel
Conditional
Type of Entry
Question expects user entry - requires response [Q]
Fully-Specified Name
- Component
- 3-Hydroxyhexanoylcarnitine (C6-OH)
- Property
- SCnc
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- 3OH-Hexanoylcarn DBS-sCnc
- Display Name
- C6-OH (DBS) [Moles/Vol]
- Consumer Name Alpha Get Info
- C6-OH, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.24
- Last Updated
- Version 2.70
- Order vs. Observation
- Both
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 58092-8 | Acylcarnitine newborn screen panel |
| 53262-2 | Carnitine newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | 3-hidroxihexanoilcarnitina (C6-OH): Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | 3-hidroxihexanoilcarnitina (C6-OH): |
| et-EE | Estonian (Estonia) | 3-hüdroksüheksanoüülkarnitiin (C6-OH): Synonyms: Aine kontsentratsioon Juhuslik Kvantitatiivne Veri |
| fr-CA | French (Canada) | 3-hydroxyhexanoylcarnitine: |
| fr-FR | French (France) | 3-hydroxyhexanoylcarnitine (C6-OH): |
| fr-BE | French (Belgium) | 3-hydroxyhexanoylcarnitine (C6: |
| it-IT | Italian (Italy) | 3-Idrossiesanoilcarnitina (C6-OH): Synonyms: Chimica Concentrazione di Sostanza Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | 3-hydroxyhexanoylcarnitine (C6-OH): |
| pt-BR | Portuguese (Brazil) | 3-Hidroxihexanoilcarnitina (C6-OH): Synonyms: ; |
| ru-RU | Russian (Russian Federation) | 3-Гидроксигексаноилкарнитин (C6-OH): Synonyms: Количественный Кровь Кровь сухая капля Молярность; |
| tr-TR | Turkish (Turkey) | 3-Hidroksihekzanoylkarnitin (C6-OH): |
| zh-CN | Chinese (China) | 3-羟基己酰肉碱 (C6-OH): Synonyms: 3-羟基己酰肉碱（肉毒碱、 |
Example Units
| Unit | Source |
|---|---|
| umol/L | Example UCUM Units |
45207-8 Glutarylcarnitine (C5-DC) [Moles/volume] in DBS
Part Descriptions
LP19314-1 Glutarylcarnitine (C5-DC)
Glutaric aciduria type I (GA I) is an autosomal-recessive deficiency of glutaryl-CoA-dehydrogenase and leads to encephalopathic crises resulting in neurological damage. A screening parameter is glutarylcarnitine (C5DC) with carnitine ratios. C5DC was shown to be significantly associated with renal manifestations. Creatinine correlates significantly with C5DC and all C5DC/acylcarnitine ratios. PMID: 20033292
Source: Regenstrief LOINC
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Glutarylcarnitine (C5-DC)
- Property
- SCnc
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- Glutarylcarn DBS-sCnc
- Display Name
- C5-DC (DBS) [Moles/Vol]
- Consumer Name Alpha Get Info
- C5-DC, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.17
- Last Updated
- Version 2.73
- Order vs. Observation
- Both
- Common Test Rank Get Info
- 17229
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 58092-8 | Acylcarnitine newborn screen panel |
| 53262-2 | Carnitine newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Glutarilcarnitina (C5-DC): Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Glutarilcarnitina (C5-DC): |
| et-EE | Estonian (Estonia) | Glutarüülkarnitiin (C5-DC): Synonyms: Aine kontsentratsioon Juhuslik Kvantitatiivne Veri |
| fr-CA | French (Canada) | Glutarylcarnitine (C5-DC): |
| fr-FR | French (France) | Glutarylcarnitine (C5-DC): |
| fr-BE | French (Belgium) | Glutarylcarnitine (C5-DC): |
| it-IT | Italian (Italy) | Glutarilcarnitina (C5-DC): Synonyms: Chimica Concentrazione di Sostanza Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | glutarylcarnitine (C5-DC): |
| pt-BR | Portuguese (Brazil) | Glutarilcarnitina (C5-DC): Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Глутарилкарнитин (C5-DC): Synonyms: Количественный Кровь Кровь сухая капля Молярность; |
| tr-TR | Turkish (Turkey) | Glutarilkarnitin (C5-DC): |
| zh-CN | Chinese (China) | 戊二酰肉碱 (C5-DC): Synonyms: 克分子浓度; |
Example Units
| Unit | Source |
|---|---|
| umol/L | Example UCUM Units |
53174-9 Octenoylcarnitine (C8:1) [Moles/volume] in DBS
Part Descriptions
LP19312-5 Octenoylcarnitine (C8:1)
Octenoylcarnitine is a secondary marker for Medium-chain ketoacyl-CoA thiolase deficiency.
Source: Regenstrief LOINC
Observation Required in Panel
Conditional
Type of Entry
Question expects user entry - requires response [Q]
Fully-Specified Name
- Component
- Octenoylcarnitine (C8:1)
- Property
- SCnc
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- Octenoylcarn DBS-sCnc
- Display Name
- C8:1 (DBS) [Moles/Vol]
- Consumer Name Alpha Get Info
- C8:1, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.24
- Last Updated
- Version 2.73
- Order vs. Observation
- Both
- Common Test Rank Get Info
- 17563
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 58092-8 | Acylcarnitine newborn screen panel |
| 53262-2 | Carnitine newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Octenoilcarnitina (C8: Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Octenoilcarnitina (C8: |
| et-EE | Estonian (Estonia) | Oktenoüülkarnitiin (C8: Synonyms: Aine kontsentratsioon Juhuslik Kvantitatiivne Veri |
| fr-CA | French (Canada) | Octenoylcarnitine (C8: |
| fr-FR | French (France) | Octènoylcarnitine (C8: |
| fr-BE | French (Belgium) | Octenoylcarnitine (C8: |
| it-IT | Italian (Italy) | Octenoilcarnitina (C8: Synonyms: Chimica Concentrazione di Sostanza Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | octenoylcarnitine (C8: |
| pt-BR | Portuguese (Brazil) | Octenoilcarnitina (C8: Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Октеноилкарнитин (C8: Synonyms: Количественный Кровь Кровь сухая капля Молярность; |
| tr-TR | Turkish (Turkey) | Oktenoilkarnitin (C8: |
| zh-CN | Chinese (China) | 辛烯酰肉碱 (C8: Synonyms: Ⅰ I 克分子浓度; |
Example Units
| Unit | Source |
|---|---|
| umol/L | Example UCUM Units |
53175-6 Octanoylcarnitine (C8) [Moles/volume] in DBS
Part Descriptions
LP19313-3 Octanoylcarnitine (C8)
Octanoylcarnitine is a primary marker for Medium-chain acyl-CoA dehydrogenase deficiency, Glutaric acidemia type II and Medium-chain ketoacyl-CoA thiolase deficiency.
Source: Regenstrief LOINC
Observation Required in Panel
Conditional
Type of Entry
Question expects user entry - requires response [Q]
Fully-Specified Name
- Component
- Octanoylcarnitine (C8)
- Property
- SCnc
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- Octanoylcarn DBS-sCnc
- Display Name
- C8 (DBS) [Moles/Vol]
- Consumer Name Alpha Get Info
- C8, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.24
- Last Updated
- Version 2.73
- Order vs. Observation
- Both
- Common Test Rank Get Info
- 17769
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 58092-8 | Acylcarnitine newborn screen panel |
| 53262-2 | Carnitine newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Octanoilcarnitina (C8): Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Octanoilcarnitina (C8): |
| et-EE | Estonian (Estonia) | Oktanoüülkarnitiin (C8): Synonyms: Aine kontsentratsioon Juhuslik Kvantitatiivne Veri |
| fr-CA | French (Canada) | Octanoylcarnitine (C8): |
| fr-FR | French (France) | Octanoylcarnitine (C8): |
| fr-BE | French (Belgium) | Octanoylcarnitine (C8): |
| it-IT | Italian (Italy) | Octanoilcarnitina (C8): Synonyms: Chimica Concentrazione di Sostanza Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | octanoylcarnitine (C8): |
| pt-BR | Portuguese (Brazil) | Octanoilcarnitina (C8): Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Октаноилкарнитин (C8): Synonyms: Количественный Кровь Кровь сухая капля Молярность; |
| tr-TR | Turkish (Turkey) | Oktanoilkarnitin (C8): |
| zh-CN | Chinese (China) | 辛酰肉碱 (C8): Synonyms: 克分子浓度; |
Example Units
| Unit | Source |
|---|---|
| umol/L | Example UCUM Units |
53176-4 Octanoylcarnitine (C8)/Acetylcarnitine (C2) [Molar ratio] in DBS
Term Description
Octanoylcarnitine/Acetylcarnitine is a primary marker for Medium-chain acyl-CoA dehydrogenase deficiency, Glutaric acidemia type II and Medium-chain ketoacyl-CoA thiolase deficiency.
Source: Regenstrief LOINC
Part Descriptions
LP19313-3 Octanoylcarnitine (C8)
Octanoylcarnitine is a primary marker for Medium-chain acyl-CoA dehydrogenase deficiency, Glutaric acidemia type II and Medium-chain ketoacyl-CoA thiolase deficiency.
Source: Regenstrief LOINC
LP70165-3 Acetylcarnitine (C2)
Acetyl-L-carnitine or ALCAR, is an acetylated form of L-carnitine. ALCAR has been claimed to be superior to normal L-carnitine in terms of bioavailability. However, at least one study has suggested that the acetylated form may have a lower oral bioavailability.
Copyright Text is available under the Creative Commons Attribution/Share-Alike License. See http://creativecommons.org/licenses/by-sa/3.0/ for details.
Source: Wikipedia, Acetylcarnitine
Observation Required in Panel
Conditional
Type of Entry
Question expects user entry - requires response [Q]
Fully-Specified Name
- Component
- Octanoylcarnitine (C8)/Acetylcarnitine (C2)
- Property
- SRto
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- Octanoylcarn/C2 DBS-sRto
- Display Name
- C8/Acetylcarnitine (C2) (DBS) [Molar ratio]
- Consumer Name Alpha Get Info
- C8/Acetylcarnitine (C2), Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.24
- Last Updated
- Version 2.73
- Order vs. Observation
- Both
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 58092-8 | Acylcarnitine newborn screen panel |
| 53262-2 | Carnitine newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Octanoilcarnitina (C8)/Acetilcarnitina (C2): Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Octanoilcarnitina (C8) / Acetilcarnitina (C2): |
| fr-CA | French (Canada) | Octanoylcarnitine (C8)/Acétylcarnitine (C2): |
| fr-FR | French (France) | Octanoylcarnitine (C8)/acétylcarnitine (C2): |
| fr-BE | French (Belgium) | Octanoylcarnitine (C8)/Acétylcarnitine (C2): |
| it-IT | Italian (Italy) | Octanoilcarnitina (C8)/Acetilcarnitina (C2): Synonyms: Chimica Punto nel tempo (episodio) Rapporto di sostanza Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | octanoylcarnitine (C8)/acetylcarnitine (C2): |
| pt-BR | Portuguese (Brazil) | Octanoilcarnitina (C8)/Acetilcarnitina (C2): Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Октаноилкарнитин (C8)/Ацетилкарнитин (C2): Synonyms: Количественный Кровь Кровь сухая капля Мольная доля; |
| tr-TR | Turkish (Turkey) | Oktanoilkarnitin (C8)/Asetilkarnitin (C2): Synonyms: SubsOranı |
| zh-CN | Chinese (China) | 辛酰肉碱 (C8)/乙酰肉碱 (C2): Synonyms: 乙酰肉碱（肉毒碱、 |
Example Units
| Unit | Source |
|---|---|
| {Ratio} | Example UCUM Units |
53177-2 Octanoylcarnitine (C8)/Decanoylcarnitine (C10) [Molar ratio] in DBS
Term Description
Octanoylcarnitine/Decanoylcarnitine is a primary marker for Secondary marker for Medium-chain acyl-CoA dehydrogenase deficiency, and Medium-chain ketoacyl-CoA thiolase deficiency.
Source: Regenstrief LOINC
Part Descriptions
LP19313-3 Octanoylcarnitine (C8)
Octanoylcarnitine is a primary marker for Medium-chain acyl-CoA dehydrogenase deficiency, Glutaric acidemia type II and Medium-chain ketoacyl-CoA thiolase deficiency.
Source: Regenstrief LOINC
LP70167-9 Decanoylcarnitine (C10)
Decanoylcarnitine is a primary marker for Medium-chain acyl-CoA dehydrogenase deficiency and Glutaric acidemia type II. Secondary marker for Medium-chain ketoacyl-CoA thiolase deficiency.
Source: Regenstrief LOINC
Observation Required in Panel
Conditional
Type of Entry
Question expects user entry - requires response [Q]
Fully-Specified Name
- Component
- Octanoylcarnitine (C8)/Decanoylcarnitine (C10)
- Property
- SRto
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- Octanoylcarn/C10 DBS-sRto
- Display Name
- C8/Decanoylcarnitine (C10) (DBS) [Molar ratio]
- Consumer Name Alpha Get Info
- C8/Decanoylcarnitine (C10), Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.24
- Last Updated
- Version 2.73
- Order vs. Observation
- Both
- Common Test Rank Get Info
- 17083
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 58092-8 | Acylcarnitine newborn screen panel |
| 53262-2 | Carnitine newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Octanoilcarnitina (C8)/Decanoilcarnitina (C10): Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Octanoilcarnitina (C8) / Decanoilcarnitina (C10): |
| fr-CA | French (Canada) | Octanoylcarnitine (C8)/Décanoylcarnitine (C10): |
| fr-FR | French (France) | Octanoylcarnitine (C8)/décanoylcarnitine (C10): |
| fr-BE | French (Belgium) | Octanoylcarnitine (C8)/Décanoylcarnitine (C10): |
| it-IT | Italian (Italy) | Octanoilcarnitina (C8)/Decanoilcarnitina (C10): Synonyms: Chimica Punto nel tempo (episodio) Rapporto di sostanza Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | octanoylcarnitine (C8)/decanoylcarnitine (C10): |
| pt-BR | Portuguese (Brazil) | Octanoilcarnitina (C8)/Decanoilcarnitina (C10): Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Октаноилкарнитин (C8)/Деканоилкарнитин (C10): Synonyms: Количественный Кровь Кровь сухая капля Мольная доля; |
| tr-TR | Turkish (Turkey) | Oktanoilkarnitin (C8)/Dekanoilkarnitin (C10): Synonyms: SubsOranı |
| zh-CN | Chinese (China) | 辛酰肉碱 (C8)/癸酰肉碱 (C10): Synonyms: 全血斑点(滤纸); |
Example Units
| Unit | Source |
|---|---|
| {Ratio} | Example UCUM Units |
53178-0 3-Hydroxyoctanoylcarnitine (C8-OH)+Malonylcarnitine (C3-DC) [Moles/volume] in DBS
Part Descriptions
LP70084-6 3-Hydroxyoctanoylcarnitine (C8-OH)+Malonylcarnitine (C3-DC)
3-Hydroxyoctanoylcarnitine+Malonylcarnitine is a primary marker for Malonic acidemia and Medium-chain ketoacyl-CoA thiolase deficiency.
Source: Regenstrief LOINC
Observation Required in Panel
Conditional
Type of Entry
Question expects user entry - requires response [Q]
Fully-Specified Name
- Component
- 3-Hydroxyoctanoylcarnitine (C8-OH)+Malonylcarnitine (C3-DC)
- Property
- SCnc
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- 3OHoctanoyl+Malonylcarn DBS-sCnc
- Display Name
- C8-OH+C3-DC (DBS) [Moles/Vol]
- Consumer Name Alpha Get Info
- C8-OH+C3-DC, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.24
- Last Updated
- Version 2.70
- Order vs. Observation
- Both
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 58092-8 | Acylcarnitine newborn screen panel |
| 53262-2 | Carnitine newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | 3-Hidroxioctanoilcarnitina (C8-OH)+Malonilcarnitina (C3-DC): Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | 3-hidroxioctanoilcarnitina (C8-OH) + malonilcarnitina (C3-DC): |
| et-EE | Estonian (Estonia) | 3-hüdroksüoktanoüülkarnitiin (C8-OH) + malonüülkarnitiin (C3-DC): Synonyms: Aine kontsentratsioon Juhuslik Kvantitatiivne Veri |
| fr-CA | French (Canada) | 3-hydroxyoctanoylcarnitine (C8-OH)+ Malonylcarnitine (C3-DC): Synonyms: #REF! |
| fr-FR | French (France) | 3-hydroxyoctanoylcarnitine (C8-OH)+malonylcarnitine (C3-DC): |
| fr-BE | French (Belgium) | 3-Hydroxyoctanoylcarnitine (C8-OH)+Malonylcarnitine (C3-DC): |
| it-IT | Italian (Italy) | 3-Idrossiottanoilcarnitina (C8-OH)+Malonilcarnitina (C3-DC): Synonyms: Chimica Concentrazione di Sostanza Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | 3-hydroxyoctanoylcarnitine (C8-OH) + malonylcarnitine (C3-DC): |
| pt-BR | Portuguese (Brazil) | 3-Hidroxioctanoilcarnitina (C8-OH)+Malonilcarnitina (C3-DC): Synonyms: ; |
| ru-RU | Russian (Russian Federation) | 3-Гидроксиоктаноилкарнитин (C8-OH)+Малонилкарнитин (C3-DC): Synonyms: Количественный Кровь Кровь сухая капля Молярность; |
| tr-TR | Turkish (Turkey) | 3-Hidroksioktanoilkarnitin (C8-OH)+Malonylkarnitin (C3-DC): |
| zh-CN | Chinese (China) | 3-羟基辛酰基肉碱 (C8-OH)+丙二酰肉碱 (C3-DC): Synonyms: 3-羟基辛酰基肉碱（肉毒碱、 |
Example Units
| Unit | Source |
|---|---|
| umol/L | Example UCUM Units |
53402-4 3-Hydroxyoctanoylcarnitine (C8-OH)+Malonylcarnitine (C3-DC)/Butyrylcarnitine+Isobutyrylcarnitine (C4) [Molar ratio] in DBS
Part Descriptions
LP70084-6 3-Hydroxyoctanoylcarnitine (C8-OH)+Malonylcarnitine (C3-DC)
3-Hydroxyoctanoylcarnitine+Malonylcarnitine is a primary marker for Malonic acidemia and Medium-chain ketoacyl-CoA thiolase deficiency.
Source: Regenstrief LOINC
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- 3-Hydroxyoctanoylcarnitine (C8-OH)+Malonylcarnitine (C3-DC)/Butyrylcarnitine+Isobutyrylcarnitine (C4)
- Property
- SRto
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- 3OHoctanoyl+Malonylcarn/C4 DBS-sRto
- Display Name
- C8-OH+C3-DC/Butyrylcarnitine+Isobutyrylcarnitine (C4) (DBS) [Molar ratio]
- Consumer Name Alpha Get Info
- C8-OH+C3-DC/Butyrylcarnitine+Isobutyrylcarnitine (C4), Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.24
- Last Updated
- Version 2.70
- Order vs. Observation
- Observation
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 58092-8 | Acylcarnitine newborn screen panel |
| 53262-2 | Carnitine newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | 3-Hidroxioctanoilcarnitina (C8-OH)+Malonilcarnitina (C3-DC)/Butirilcarnitina + Isobutirilcarnitina (C4): Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | 3-hidroxioctanoilcarnitina (C8-OH) + malonilcarnitina (C3-DC) / butirilcarnitina + isobutirilcarnitina (C4): |
| fr-CA | French (Canada) | 3-hydroxyoctanoylcarnitine (C8-OH)+ Malonylcarnitine (C3-DC)/Butyrylcarnitine+Isobutyrylcarnitine (C4): Synonyms: #REF! |
| fr-FR | French (France) | 3-hydroxyoctanoylcarnitine (C8-OH)+malonylcarnitine (C3-DC)/butyrylcarnitine+isobutyrylcarnitine (C4): |
| fr-BE | French (Belgium) | 3-Hydroxyoctanoylcarnitine (C8-OH)+Malonylcarnitine (C3-DC)/Butyrylcarnitine+Isobutyrylcarnitine (C4): |
| it-IT | Italian (Italy) | 3-Idrossiottanoilcarnitina (C8-OH)+Malonilcarnitina (C3-DC)/Butirrilcarnitina+Isobutirrilcarnitina (C4): Synonyms: Chimica Punto nel tempo (episodio) Rapporto di sostanza Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | 3-hydroxyoctanoylcarnitine (C8-OH) + malonylcarnitine (C3-DC)/butyrylcarnitine + isobutyrylcarnitine (C4): |
| pt-BR | Portuguese (Brazil) | 3-Hidroxioctanoilcarnitina (C8-OH)+Malonilcarnitina (C3-DC)/Butirilcarnitina+Isobutirilcarnitina (C4): Synonyms: ; |
| ru-RU | Russian (Russian Federation) | 3-Гидроксиоктаноилкарнитин (C8-OH)+Малонилкарнитин (C3-DC)/Бутирилкарнитин+Изобутирилкарнитин (C4): Synonyms: Количественный Кровь Кровь сухая капля Мольная доля; |
| tr-TR | Turkish (Turkey) | 3-Hidroksioktanoilkarnitin (C8-OH)+Malonylkarnitin (C3-DC)/Bütirilkarnitin+izobütirilkarnitin (C4): Synonyms: SubsOranı |
| zh-CN | Chinese (China) | 3-羟基辛酰基肉碱 (C8-OH)+丙二酰肉碱 (C3-DC)/丁酰肉碱+异丁酰肉碱 (C4): Synonyms: 3-羟基辛酰基肉碱（肉毒碱、 |
Example Units
| Unit | Source |
|---|---|
| {Ratio} | Example UCUM Units |
53179-8 3-Hydroxyoctanoylcarnitine (C8-OH)+Malonylcarnitine (C3-DC)/Decanoylcarnitine (C10) [Molar ratio] in DBS
Term Description
3-Hydroxyoctanoylcarnitine+Malonylcarnitine/Decanoylcarnitine is a primary marker for Malonic acidemia and Medium-chain ketoacyl-CoA thiolase deficiency.
Source: Regenstrief LOINC
Part Descriptions
LP70084-6 3-Hydroxyoctanoylcarnitine (C8-OH)+Malonylcarnitine (C3-DC)
3-Hydroxyoctanoylcarnitine+Malonylcarnitine is a primary marker for Malonic acidemia and Medium-chain ketoacyl-CoA thiolase deficiency.
Source: Regenstrief LOINC
LP70167-9 Decanoylcarnitine (C10)
Decanoylcarnitine is a primary marker for Medium-chain acyl-CoA dehydrogenase deficiency and Glutaric acidemia type II. Secondary marker for Medium-chain ketoacyl-CoA thiolase deficiency.
Source: Regenstrief LOINC
Observation Required in Panel
Conditional
Type of Entry
Question expects user entry - requires response [Q]
Fully-Specified Name
- Component
- 3-Hydroxyoctanoylcarnitine (C8-OH)+Malonylcarnitine (C3-DC)/Decanoylcarnitine (C10)
- Property
- SRto
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- 3OHoctanoyl+Malonylcarn/C10 DBS-sRto
- Display Name
- C8-OH+C3-DC/Decanoylcarnitine (C10) (DBS) [Molar ratio]
- Consumer Name Alpha Get Info
- C8-OH+C3-DC/Decanoylcarnitine (C10), Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.24
- Last Updated
- Version 2.61
- Order vs. Observation
- Both
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 58092-8 | Acylcarnitine newborn screen panel |
| 53262-2 | Carnitine newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | 3-Hidroxioctanoilcarnitina (C8-OH)+Malonilcarnitina (C3-DC)/Decanoilcarnitina (C10): Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | 3-hidroxioctanoilcarnitina (C8-OH) + malonilcarnitina (C3-DC) / decanoilcarnitina (C10): |
| fr-CA | French (Canada) | 3-hydroxyoctanoylcarnitine (C8-OH)+ Malonylcarnitine (C3-DC)/Décanoylcarnitine (C10): Synonyms: #REF! |
| fr-FR | French (France) | 3-hydroxyoctanoylcarnitine (C8-OH)+malonylcarnitine (C3-DC)/décanoylcarnitine (C10): |
| fr-BE | French (Belgium) | 3-Hydroxyoctanoylcarnitine (C8-OH)+Malonylcarnitine (C3-DC)/Décanoylcarnitine (C10): |
| it-IT | Italian (Italy) | 3-Idrossiottanoilcarnitina (C8-OH)+Malonilcarnitina (C3-DC)/Decanoilcarnitina (C10): Synonyms: Chimica Punto nel tempo (episodio) Rapporto di sostanza Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | 3-hydroxyoctanoylcarnitine (C8-OH) + malonylcarnitine (C3-DC)/decanoylcarnitine (C10): |
| pt-BR | Portuguese (Brazil) | 3-Hidroxioctanoilcarnitina (C8-OH)+Malonilcarnitina (C3-DC)/Decanoilcarnitina (C10): Synonyms: ; |
| ru-RU | Russian (Russian Federation) | 3-Гидроксиоктаноилкарнитин (C8-OH)+Малонилкарнитин (C3-DC)/Деканоилкарнитин (C10): Synonyms: Количественный Кровь Кровь сухая капля Мольная доля; |
| tr-TR | Turkish (Turkey) | 3-Hidroksioktanoilkarnitin (C8-OH)+Malonylkarnitin (C3-DC)/Dekanoilkarnitin (C10): Synonyms: SubsOranı |
| zh-CN | Chinese (China) | 3-羟基辛酰基肉碱 (C8-OH)+丙二酰肉碱 (C3-DC)/癸酰肉碱 (C10): Synonyms: 3-羟基辛酰基肉碱（肉毒碱、 |
Example Units
| Unit | Source |
|---|---|
| {Ratio} | Example UCUM Units |
53180-6 Decadienoylcarnitine (C10:2) [Moles/volume] in DBS
Part Descriptions
LP70085-3 Decadienoylcarnitine (C10:2)
Decadienoylcarnitine is a primary marker for 2,4-Dienoyl-CoA reductase deficiency.
Source: Regenstrief LOINC
Observation Required in Panel
Conditional
Type of Entry
Question expects user entry - requires response [Q]
Fully-Specified Name
- Component
- Decadienoylcarnitine (C10:2)
- Property
- SCnc
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- Decadienoylcarn DBS-sCnc
- Display Name
- C10:2 (DBS) [Moles/Vol]
- Consumer Name Alpha Get Info
- C10:2, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.24
- Last Updated
- Version 2.73
- Order vs. Observation
- Both
- Common Test Rank Get Info
- 18254
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 58092-8 | Acylcarnitine newborn screen panel |
| 53262-2 | Carnitine newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Decadienoilcarnitina (C10: Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Decadienoilcarnitina (C10: |
| et-EE | Estonian (Estonia) | Dekadienoüülkarnitiin (C10: Synonyms: Aine kontsentratsioon Juhuslik Kvantitatiivne Veri |
| fr-CA | French (Canada) | Décadienoylcarnitine (C10: |
| fr-FR | French (France) | Décadiénoylcarnitine (C10: |
| fr-BE | French (Belgium) | Décadienoylcarnitine (C10: |
| it-IT | Italian (Italy) | Decadienoilcarnitina (C10: Synonyms: Chimica Concentrazione di Sostanza Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | decadienoylcarnitine (C10: |
| pt-BR | Portuguese (Brazil) | Decadienoilcarnitina (C10: Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Декадиеноилкарнитин (C10: Synonyms: Количественный Кровь Кровь сухая капля Молярность; |
| tr-TR | Turkish (Turkey) | Dekadienoilkarnitin (C10: |
| zh-CN | Chinese (China) | 癸二烯酰肉碱 (C10: Synonyms: Ⅱ II 克分子浓度; |
Example Units
| Unit | Source |
|---|---|
| umol/L | Example UCUM Units |
45198-9 Decenoylcarnitine (C10:1) [Moles/volume] in DBS
Part Descriptions
LP29044-2 Decenoylcarnitine (C10:1)
Decenoylcarnitine is a primary marker for Medium-chain acyl-CoA dehydrogenase deficiency and Glutaric acidemia type II. Secondary marker for Medium-chain ketoacyl-CoA thiolase deficiency.
Source: Regenstrief LOINC
Observation Required in Panel
Conditional
Type of Entry
Question expects user entry - requires response [Q]
Fully-Specified Name
- Component
- Decenoylcarnitine (C10:1)
- Property
- SCnc
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- Decenoylcarn DBS-sCnc
- Display Name
- C10:1 (DBS) [Moles/Vol]
- Consumer Name Alpha Get Info
- C10:1, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.17
- Last Updated
- Version 2.73
- Order vs. Observation
- Both
- Common Test Rank Get Info
- 19935
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 58092-8 | Acylcarnitine newborn screen panel |
| 53262-2 | Carnitine newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Decenoilcarnitina (C10: Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Decenoilcarnitina (C10: |
| et-EE | Estonian (Estonia) | Dekenoüülkarnitiin (C10: Synonyms: Aine kontsentratsioon Juhuslik Kvantitatiivne Veri |
| fr-CA | French (Canada) | Décénoylcarnitine: |
| fr-FR | French (France) | Décènoylcarnitine (C10: |
| fr-BE | French (Belgium) | Décénoylcarnitine (C10: |
| it-IT | Italian (Italy) | Decenoilcarnitina (C10: Synonyms: Chimica Concentrazione di Sostanza Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | decenoylcarnitine (C10: |
| pt-BR | Portuguese (Brazil) | Decenoilcarnitina (C10: Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Деценоилкарнитин (C10: Synonyms: Количественный Кровь Кровь сухая капля Молярность; |
| tr-TR | Turkish (Turkey) | Dekenoilkarnitin (C10: |
| zh-CN | Chinese (China) | 癸烯酰肉碱 (C10: Synonyms: Ⅰ I 克分子浓度; |
Example Units
| Unit | Source |
|---|---|
| umol/L | Example UCUM Units |
45197-1 Decanoylcarnitine (C10) [Moles/volume] in DBS
Part Descriptions
LP19317-4 Decanoylcarnitine (C10)
Decanoylcarnitine is a primary marker for Medium-chain acyl-CoA dehydrogenase deficiency and Glutaric acidemia type II. Secondary marker for Medium-chain ketoacyl-CoA thiolase deficiency.
Source: Regenstrief LOINC
Observation Required in Panel
Conditional
Type of Entry
Question expects user entry - requires response [Q]
Fully-Specified Name
- Component
- Decanoylcarnitine (C10)
- Property
- SCnc
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- Decanoylcarn DBS-sCnc
- Display Name
- C10 (DBS) [Moles/Vol]
- Consumer Name Alpha Get Info
- C10, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.17
- Last Updated
- Version 2.73
- Order vs. Observation
- Both
- Common Test Rank Get Info
- 18157
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 58092-8 | Acylcarnitine newborn screen panel |
| 53262-2 | Carnitine newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Decanoilcarnitina (C10): Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Decanoilcarnitina (C10): |
| et-EE | Estonian (Estonia) | Dekanoüülkarnitiin (C10): Synonyms: Aine kontsentratsioon Juhuslik Kvantitatiivne Veri |
| fr-CA | French (Canada) | Décanoylcarnitine (C10): |
| fr-FR | French (France) | Décanoylcarnitine (C10): |
| fr-BE | French (Belgium) | Décanoylcarnitine (C10): |
| it-IT | Italian (Italy) | Decanoilcarnitina (C10): Synonyms: Chimica Concentrazione di Sostanza Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | decanoylcarnitine (C10): |
| pt-BR | Portuguese (Brazil) | Decanoilcarnitina (C10): Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Деканоилкарнитин (C10): Synonyms: Количественный Кровь Кровь сухая капля Молярность; |
| tr-TR | Turkish (Turkey) | Dekanoilkarnitin (C10): |
| zh-CN | Chinese (China) | 癸酰肉碱 (C10): Synonyms: 克分子浓度; |
Example Units
| Unit | Source |
|---|---|
| umol/L | Example UCUM Units |
53182-2 3-Hydroxydecenoylcarnitine (C10:1-OH) [Moles/volume] in DBS
Part Descriptions
LP70087-9 3-Hydroxydecenoylcarnitine (C10:1-OH)
3-Hydroxydecenoylcarnitine is a secondary marker for Long-chain L-3-Hydroxy dehydrogenase deficiency, Medium-chain ketoacyl-CoA thiolase deficiency, and Trifunctional protein deficiency.
Source: Regenstrief LOINC
Observation Required in Panel
Conditional
Type of Entry
Question expects user entry - requires response [Q]
Fully-Specified Name
- Component
- 3-Hydroxydecenoylcarnitine (C10:1-OH)
- Property
- SCnc
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- 3-OH-decenoylcarn DBS-sCnc
- Display Name
- C10:1-OH (DBS) [Moles/Vol]
- Consumer Name Alpha Get Info
- C10:1-OH, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.24
- Last Updated
- Version 2.73
- Order vs. Observation
- Both
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 58092-8 | Acylcarnitine newborn screen panel |
| 53262-2 | Carnitine newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | 3-Hidroxidecenoilcarnitina (C10: Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | 3-hidroxidocenoilcarnitina (C10: |
| et-EE | Estonian (Estonia) | 3-hüdroksüdekenoüülkarnitiin (C10: Synonyms: Aine kontsentratsioon Juhuslik Kvantitatiivne Veri |
| fr-CA | French (Canada) | 3-hydroxydécenoylcarnitine (C10: |
| fr-FR | French (France) | 3-hydroxydécénoylcarnitine (C10: |
| fr-BE | French (Belgium) | 3-Hydroxydécenoylcarnitine (C10: |
| it-IT | Italian (Italy) | 3-Idrossidecanoilcarnitina (C10: Synonyms: Chimica Concentrazione di Sostanza Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | 3-hydroxydecenoylcarnitine (C10: |
| pt-BR | Portuguese (Brazil) | 3-Hidroxidecenoilcarnitina (C10: Synonyms: ; |
| ru-RU | Russian (Russian Federation) | 3-Гидроксидеценоилкарнитин (C10: Synonyms: Количественный Кровь Кровь сухая капля Молярность; |
| tr-TR | Turkish (Turkey) | 3-Hidroksidecenoylkarnitin (C10: |
| zh-CN | Chinese (China) | 3-羟基十二烯酸基肉碱 (C10: Synonyms: Ⅰ 3-羟基十二烯酸基肉碱（肉毒碱、 |
Example Units
| Unit | Source |
|---|---|
| umol/L | Example UCUM Units |
53183-0 Glutarylcarnitine (C5-DC)+3-Hydroxydecanoylcarnitine (C10-OH) [Moles/volume] in DBS
Part Descriptions
LP66334-1 Glutarylcarnitine (C5-DC)+3-Hydroxydecanoylcarnitine (C10-OH)
Glutarylcarnitine+3-Hydroxydecanoylcarnitine is a primary marker for Glutaric acidemia type I and Glutaric acidemia type II. Secondary marker for Maternal glutaric acidemia type I.
Source: Regenstrief LOINC
Observation Required in Panel
Conditional
Type of Entry
Question expects user entry - requires response [Q]
Fully-Specified Name
- Component
- Glutarylcarnitine (C5-DC)+3-Hydroxydecanoylcarnitine (C10-OH)
- Property
- SCnc
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- Glut+3OHdecanoylcarn DBS-sCnc
- Display Name
- C5-DC+C10-OH (DBS) [Moles/Vol]
- Consumer Name Alpha Get Info
- C5-DC+C10-OH, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.24
- Last Updated
- Version 2.73
- Order vs. Observation
- Both
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 58092-8 | Acylcarnitine newborn screen panel |
| 53262-2 | Carnitine newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Glutarilcarnitina+3-Hidroxidecanoilcarnitina: Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Glutarilcarnitina (C5-DC) + 3-Hidroxidocanoilcarnitina (C10-OH): |
| et-EE | Estonian (Estonia) | Glutarüülkarnitiin (C5-DC) + 3-hüdroksüdekanoüülkarnitiin (C10-OH): Synonyms: Aine kontsentratsioon Juhuslik Kvantitatiivne Veri |
| fr-CA | French (Canada) | Glutarylcarnitine (C5-DC)+ 3-hydroxydécanoylcarnitine (C10-OH): |
| fr-FR | French (France) | Glutarylcarnitine (C5-DC)+3-hydroxydécanoylcarnitine (C10-OH): |
| fr-BE | French (Belgium) | Glutarylcarnitine (C5-DC)+3-Hydroxydecanoylcarnitine (C10-OH): |
| it-IT | Italian (Italy) | Glutarilcarnitina (C5-DC)+3-Idrossidecanoilcarnitina (C10-OH): Synonyms: Chimica Concentrazione di Sostanza Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | glutarylcarnitine (C5-DC) + 3-hydroxydecanoylcarnitine (C10-OH): |
| pt-BR | Portuguese (Brazil) | Glutarilcarnitina (C5-DC)+3-Hidroxidecanoilcarnitina (C10-OH): Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Глутарилкарнитин (C5-DC)+3-Гидроксидканоилкарнитин (C10-OH): Synonyms: Количественный Кровь Кровь сухая капля Молярность; |
| tr-TR | Turkish (Turkey) | Glutarilkarnitin (C5-DC)+3-Hidroksidekanoilkarnitin (C10-OH): |
| zh-CN | Chinese (China) | 戊二酰肉碱 (C5-DC)+3-羟癸酰肉碱 (C10-OH): Synonyms: 3-羟癸酰肉碱（肉毒碱、 |
Example Units
| Unit | Source |
|---|---|
| umol/L | Example UCUM Units |
53403-2 Glutarylcarnitine (C5-DC)+3-Hydroxydecanoylcarnitine (C10-OH)/Butyrylcarnitine+Isobutyrylcarnitine (C4) [Molar ratio] in DBS
Part Descriptions
LP66334-1 Glutarylcarnitine (C5-DC)+3-Hydroxydecanoylcarnitine (C10-OH)
Glutarylcarnitine+3-Hydroxydecanoylcarnitine is a primary marker for Glutaric acidemia type I and Glutaric acidemia type II. Secondary marker for Maternal glutaric acidemia type I.
Source: Regenstrief LOINC
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Glutarylcarnitine (C5-DC)+3-Hydroxydecanoylcarnitine (C10-OH)/Butyrylcarnitine+Isobutyrylcarnitine (C4)
- Property
- SRto
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- Glut+3OHdecanoylcarn/C4 DBS-sRto
- Display Name
- C5-DC+C10-OH/Butyrylcarnitine+Isobutyrylcarnitine (C4) (DBS) [Molar ratio]
- Consumer Name Alpha Get Info
- C5-DC+C10-OH/Butyrylcarnitine+Isobutyrylcarnitine (C4), Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.24
- Last Updated
- Version 2.73
- Order vs. Observation
- Observation
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 58092-8 | Acylcarnitine newborn screen panel |
| 53262-2 | Carnitine newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Glutarilcarnitina+3-Hidroxidecanoilcarnitina/Butirilcarnitina + Isobutirilcarnitina (C4): Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Glutarilcarnitina (C5-DC) + 3-Hidroxidocanoilcarnitina (C10-OH) / Butirilcarnitina + Isobutirilcarnitina (C4): |
| fr-CA | French (Canada) | Glutarylcarnitine (C5-DC)+ 3-hydroxydécanoylcarnitine (C10-OH)/Butyrylcarnitine+Isobutyrylcarnitine (C4): |
| fr-FR | French (France) | Glutarylcarnitine (C5-DC)+3-hydroxydécanoylcarnitine (C10-OH)/butyrylcarnitine+Isobutyrylcarnitine (C4): |
| fr-BE | French (Belgium) | Glutarylcarnitine (C5-DC)+3-Hydroxydecanoylcarnitine (C10-OH)/Butyrylcarnitine+Isobutyrylcarnitine (C4): |
| it-IT | Italian (Italy) | Glutarilcarnitina (C5-DC)+3-Idrossidecanoilcarnitina (C10-OH)/Butirrilcarnitina+Isobutirrilcarnitina (C4): Synonyms: Chimica Punto nel tempo (episodio) Rapporto di sostanza Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | glutarylcarnitine (C5-DC) + 3-hydroxydecanoylcarnitine (C10-OH)/butyrylcarnitine + isobutyrylcarnitine (C4): |
| pt-BR | Portuguese (Brazil) | Glutarilcarnitina (C5-DC)+3-Hidroxidecanoilcarnitina (C10-OH)/Butirilcarnitina+Isobutirilcarnitina (C4): Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Глутарилкарнитин (C5-DC)+3-Гидроксидканоилкарнитин (C10-OH)/Бутирилкарнитин+Изобутирилкарнитин (C4): Synonyms: Количественный Кровь Кровь сухая капля Мольная доля; |
| tr-TR | Turkish (Turkey) | Glutarilkarnitin (C5-DC)+3-Hidroksidekanoilkarnitin (C10-OH)/Bütirilkarnitin+izobütirilkarnitin (C4): Synonyms: SubsOranı |
| zh-CN | Chinese (China) | 戊二酰肉碱 (C5-DC)+3-羟癸酰肉碱 (C10-OH)/丁酰肉碱+异丁酰肉碱 (C4): Synonyms: 3-羟癸酰肉碱（肉毒碱、 |
Example Units
| Unit | Source |
|---|---|
| {Ratio} | Example UCUM Units |
53184-8 Glutarylcarnitine (C5-DC)+3-Hydroxydecanoylcarnitine (C10-OH)/3-Hydroxyisovalerylcarnitine (C5-OH) [Molar ratio] in DBS
Term Description
Glutarylcarnitine+3-Hydroxydecanoylcarnitine/3-Hydroxyisovalerylcarnitine is a primary marker for Glutaric acidemia type I and Glutaric acidemia type II Secondary marker for Maternal glutaric acidemia type I.
Source: Regenstrief LOINC
Part Descriptions
LP66334-1 Glutarylcarnitine (C5-DC)+3-Hydroxydecanoylcarnitine (C10-OH)
Glutarylcarnitine+3-Hydroxydecanoylcarnitine is a primary marker for Glutaric acidemia type I and Glutaric acidemia type II. Secondary marker for Maternal glutaric acidemia type I.
Source: Regenstrief LOINC
LP70356-8 3-Hydroxyisovalerylcarnitine (C5-OH)
3-Hydroxyisovalerylcarnitine is a primary marker for 3-Methylcrotonyl-CoA carboxylase deficiency, Beta-Ketothiolase deficiency, Multiple carboxylase deficiency, 3-Hydroxy-3-methylglutaric aciduria, 2-Methyl-3-hydroxybutyric aciduria, Maternal 3-Methylcrotonyl-CoA carboxylase deficiency, and 2-Methylbutyrylglycinuria.
Source: Regenstrief LOINC
Observation Required in Panel
Conditional
Type of Entry
Question expects user entry - requires response [Q]
Fully-Specified Name
- Component
- Glutarylcarnitine (C5-DC)+3-Hydroxydecanoylcarnitine (C10-OH)/3-Hydroxyisovalerylcarnitine (C5-OH)
- Property
- SRto
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- Glut+3OHdecanoylcarn/C5OH DBS-sRto
- Display Name
- C5-DC+C10-OH/3-Hydroxyisovalerylcarnitine (C5-OH) (DBS) [Molar ratio]
- Consumer Name Alpha Get Info
- C5-DC+C10-OH/3-Hydroxyisovalerylcarnitine (C5-OH), Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.24
- Last Updated
- Version 2.73
- Order vs. Observation
- Both
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 58092-8 | Acylcarnitine newborn screen panel |
| 53262-2 | Carnitine newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Glutarilcarnitina+3-Hidroxidecanoilcarnitina/3-Hidroxiisovalerilcarnitina (C5-OH): Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Glutarilcarnitina (C5-DC) + 3-Hidroxidocanoilcarnitina (C10-OH) / 3-Hidroxiisovalerilcarnitina (C5-OH): |
| fr-CA | French (Canada) | Glutarylcarnitine (C5-DC)+ 3-hydroxydécanoylcarnitine (C10-OH)/3-hydroxyisovalérylcarnitine (C5-OH): |
| fr-FR | French (France) | Glutarylcarnitine (C5-DC)+3-hydroxydécanoylcarnitine (C10-OH)/3-hydroxyisovalérylcarnitine (C5-OH): |
| fr-BE | French (Belgium) | Glutarylcarnitine (C5-DC)+3-Hydroxydecanoylcarnitine (C10-OH)/3-hydroxyisovalérylcarnitine (C5-OH): |
| it-IT | Italian (Italy) | Glutarilcarnitina (C5-DC)+3-Idrossidecanoilcarnitina (C10-OH)/3-Idrossiisovalerilcarnitina (C5-OH): Synonyms: Chimica Punto nel tempo (episodio) Rapporto di sostanza Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | glutarylcarnitine (C5-DC) + 3-hydroxydecanoylcarnitine (C10-OH)/3-hydroxyisovalerylcarnitine (C5-OH): |
| pt-BR | Portuguese (Brazil) | Glutarilcarnitina (C5-DC)+3-Hidroxidecanoilcarnitina (C10-OH)/3-Hidroxisovalerilcarnitina (C5-OH): Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Глутарилкарнитин (C5-DC)+3-Гидроксидканоилкарнитин (C10-OH)/3-Гидроксиизовалерилкарнитин (C5-OH): Synonyms: Количественный Кровь Кровь сухая капля Мольная доля; |
| tr-TR | Turkish (Turkey) | Glutarilkarnitin (C5-DC)+3-Hidroksidekanoilkarnitin (C10-OH)/3-Hidroksiizovalerilkarnitin (C5-OH): Synonyms: SubsOranı |
| zh-CN | Chinese (China) | 戊二酰肉碱 (C5-DC)+3-羟癸酰肉碱 (C10-OH)/3-羟基异戊酰肉碱 (C5-OH): Synonyms: 3-羟基异戊酰肉碱（肉毒碱、 |
Example Units
| Unit | Source |
|---|---|
| {Ratio} | Example UCUM Units |
53185-5 Glutarylcarnitine (C5-DC)+3-Hydroxydecanoylcarnitine (C10-OH)/Octanoylcarnitine (C8) [Molar ratio] in DBS
Term Description
Glutarylcarnitine+3-Hydroxydecanoylcarnitine/Octanoylcarnitine is a primary marker for Very long-chain acyl-CoA dehydrogenase deficiency.
Source: Regenstrief LOINC
Part Descriptions
LP66334-1 Glutarylcarnitine (C5-DC)+3-Hydroxydecanoylcarnitine (C10-OH)
Glutarylcarnitine+3-Hydroxydecanoylcarnitine is a primary marker for Glutaric acidemia type I and Glutaric acidemia type II. Secondary marker for Maternal glutaric acidemia type I.
Source: Regenstrief LOINC
LP70166-1 Octanoylcarnitine (C8)
Octanoylcarnitine is a primary marker for Medium-chain acyl-CoA dehydrogenase deficiency, Glutaric acidemia type II and Medium-chain ketoacyl-CoA thiolase deficiency.
Source: Regenstrief LOINC
Observation Required in Panel
Conditional
Type of Entry
Question expects user entry - requires response [Q]
Fully-Specified Name
- Component
- Glutarylcarnitine (C5-DC)+3-Hydroxydecanoylcarnitine (C10-OH)/Octanoylcarnitine (C8)
- Property
- SRto
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- Glut+3OHdecanoylcarn/C8 DBS-sRto
- Display Name
- C5-DC+C10-OH/Octanoylcarnitine (C8) (DBS) [Molar ratio]
- Consumer Name Alpha Get Info
- C5-DC+C10-OH/Octanoylcarnitine (C8), Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.24
- Last Updated
- Version 2.73
- Order vs. Observation
- Both
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 58092-8 | Acylcarnitine newborn screen panel |
| 53262-2 | Carnitine newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Glutarilcarnitina+3-Hidroxidecanoilcarnitina/Octanoilcarnitina (C8): Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Glutarilcarnitina (C5-DC) + 3-hidroxidocanoilcarnitina (C10-OH) / octanoilcarnitina (C8): |
| fr-CA | French (Canada) | Glutarylcarnitine (C5-DC)+ 3-hydroxydécanoylcarnitine (C10-OH)/Octanoylcarnitine (C8): |
| fr-FR | French (France) | Glutarylcarnitine (C5-DC)+3-hydroxydécanoylcarnitine (C10-OH)/octanoylcarnitine (C8): |
| fr-BE | French (Belgium) | Glutarylcarnitine (C5-DC)+3-Hydroxydecanoylcarnitine (C10-OH)/Octanoylcarnitine (C8): |
| it-IT | Italian (Italy) | Glutarilcarnitina (C5-DC)+3-Idrossidecanoilcarnitina (C10-OH)/Octanoilcarnitina (C8): Synonyms: Chimica Punto nel tempo (episodio) Rapporto di sostanza Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | glutarylcarnitine (C5-DC) + 3-hydroxydecanoylcarnitine (C10-OH)/octanoylcarnitine (C8): |
| pt-BR | Portuguese (Brazil) | Glutarilcarnitina (C5-DC)+3-Hidroxidecanoilcarnitina (C10-OH)/Octanoilcarnitina (C8): Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Глутарилкарнитин (C5-DC)+3-Гидроксидканоилкарнитин (C10-OH)/Октаноилкарнитин (C8): Synonyms: Количественный Кровь Кровь сухая капля Мольная доля; |
| tr-TR | Turkish (Turkey) | Glutarilkarnitin (C5-DC)+3-Hidroksidekanoilkarnitin (C10-OH)/Oktanoilkarnitin (C8): Synonyms: SubsOranı |
| zh-CN | Chinese (China) | 戊二酰肉碱 (C5-DC)+3-羟癸酰肉碱 (C10-OH)/辛酰肉碱 (C8): Synonyms: 3-羟癸酰肉碱（肉毒碱、 |
Example Units
| Unit | Source |
|---|---|
| {Ratio} | Example UCUM Units |
53186-3 Glutarylcarnitine (C5-DC)+3-Hydroxydecanoylcarnitine (C10-OH)/Palmitoylcarnitine (C16) [Molar ratio] in DBS
Term Description
Glutarylcarnitine+3-Hydroxydecanoylcarnitine/Palmitoylcarnitine is a primary marker for Very long-chain acyl-CoA dehydrogenase deficiency. Secondary marker for Long-chain L-3-Hydroxy dehydrogenase deficiency, and Trifunctional protein deficiency.
Source: Regenstrief LOINC
Part Descriptions
LP66334-1 Glutarylcarnitine (C5-DC)+3-Hydroxydecanoylcarnitine (C10-OH)
Glutarylcarnitine+3-Hydroxydecanoylcarnitine is a primary marker for Glutaric acidemia type I and Glutaric acidemia type II. Secondary marker for Maternal glutaric acidemia type I.
Source: Regenstrief LOINC
LP70162-0 Palmitoylcarnitine (C16)
Palmitoylcarnitine is a primary marker for Very long-chain acyl-CoA dehydrogenase deficiency, Long-chain L-3-Hydroxy dehydrogenase deficiency, Trifunctional protein deficiency, Carnitine palmitoyltransferase I deficiency, Carnitine acylcarnitine translocase deficiency, and Carnitine palmitoyltransferase II deficiency. Secondary marker for Carnitine uptake defect.
Source: Regenstrief LOINC
Observation Required in Panel
Conditional
Type of Entry
Question expects user entry - requires response [Q]
Fully-Specified Name
- Component
- Glutarylcarnitine (C5-DC)+3-Hydroxydecanoylcarnitine (C10-OH)/Palmitoylcarnitine (C16)
- Property
- SRto
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- Glut+3OHdecanoylcarn/C16 DBS-sRto
- Display Name
- C5-DC+C10-OH/Palmitoylcarnitine (C16) (DBS) [Molar ratio]
- Consumer Name Alpha Get Info
- C5-DC+C10-OH/Palmitoylcarnitine (C16), Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.24
- Last Updated
- Version 2.73
- Order vs. Observation
- Both
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 58092-8 | Acylcarnitine newborn screen panel |
| 53262-2 | Carnitine newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Glutarilcarnitina+3-Hidroxidecanoilcarnitina/Palmitoilcarnitina (C16): Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Glutarilcarnitina (C5-DC) + 3-Hidroxidocanoilcarnitina (C10-OH) / Palmitoilcarnitina (C16): |
| fr-CA | French (Canada) | Glutarylcarnitine (C5-DC)+ 3-hydroxydécanoylcarnitine (C10-OH)/Palmitoylcarnitine (C16): |
| fr-FR | French (France) | Glutarylcarnitine (C5-DC)+3-hydroxydécanoylcarnitine (C10-OH)/palmitoylcarnitine (C16): |
| fr-BE | French (Belgium) | Glutarylcarnitine (C5-DC)+3-Hydroxydecanoylcarnitine (C10-OH)/Palmitoylcarnitine (C16): |
| it-IT | Italian (Italy) | Glutarilcarnitina (C5-DC)+3-Idrossidecanoilcarnitina (C10-OH)/Palmitoilcarnitina (C16): Synonyms: Chimica Punto nel tempo (episodio) Rapporto di sostanza Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | glutarylcarnitine (C5-DC) + 3-hydroxydecanoylcarnitine (C10-OH)/palmitoylcarnitine (C16): |
| pt-BR | Portuguese (Brazil) | Glutarilcarnitina (C5-DC)+3-Hidroxidecanoilcarnitina (C10-OH)/Palmitoilcarnitina (C16): Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Глутарилкарнитин (C5-DC)+3-Гидроксидканоилкарнитин (C10-OH)/Пальмитоилкарнитин (C16): Synonyms: Количественный Кровь Кровь сухая капля Мольная доля; |
| tr-TR | Turkish (Turkey) | Glutarilkarnitin (C5-DC)+3-Hidroksidekanoilkarnitin (C10-OH)/Palmitoilkarnitin (C16): Synonyms: SubsOranı |
| zh-CN | Chinese (China) | 戊二酰肉碱 (C5-DC)+3-羟癸酰肉碱 (C10-OH)/棕榈酰肉碱 (C16): Synonyms: 3-羟癸酰肉碱（肉毒碱、 |
Example Units
| Unit | Source |
|---|---|
| {Ratio} | Example UCUM Units |
45200-3 Dodecenoylcarnitine (C12:1) [Moles/volume] in DBS
Part Descriptions
LP19319-0 Dodecenoylcarnitine (C12:1)
Dodecenoylcarnitine is a primary marker for Very long-chain acyl-CoA dehydrogenase deficiency. Secondary marker for Carnitine acylcarnitine translocase deficiency, and Carnitine palmitoyltransferase II deficiency.
Source: Regenstrief LOINC
Observation Required in Panel
Conditional
Type of Entry
Question expects user entry - requires response [Q]
Fully-Specified Name
- Component
- Dodecenoylcarnitine (C12:1)
- Property
- SCnc
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- Dodecenoylcarn DBS-sCnc
- Display Name
- C12:1 (DBS) [Moles/Vol]
- Consumer Name Alpha Get Info
- C12:1, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.17
- Last Updated
- Version 2.73
- Order vs. Observation
- Both
- Common Test Rank Get Info
- 18829
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 58092-8 | Acylcarnitine newborn screen panel |
| 53262-2 | Carnitine newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Dodecenoilcarnitina (C12: Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Dodecenoilcarnitina (C12: |
| et-EE | Estonian (Estonia) | Dodekenoüülkarnitiin (C12: Synonyms: Aine kontsentratsioon Juhuslik Kvantitatiivne Veri |
| fr-CA | French (Canada) | Dodecenoylcarnitine (C12: |
| fr-FR | French (France) | Dodécènoylcarnitine (C12: |
| fr-BE | French (Belgium) | Dodecenoylcarnitine (C12: |
| it-IT | Italian (Italy) | Dodecenoilcarnitina (C12: Synonyms: Chimica Concentrazione di Sostanza Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | dodecenoylcarnitine (C12: |
| pt-BR | Portuguese (Brazil) | Dodecenoilcarnitina (C12: Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Додеценоилкарнитин (C12: Synonyms: Количественный Кровь Кровь сухая капля Молярность; |
| tr-TR | Turkish (Turkey) | Dodesenoilkarnitin (C12: |
| zh-CN | Chinese (China) | 十二烯酰肉碱 (C12: Synonyms: Ⅰ I 克分子浓度; |
Example Units
| Unit | Source |
|---|---|
| umol/L | Example UCUM Units |
45199-7 Dodecanoylcarnitine (C12) [Moles/volume] in DBS
Part Descriptions
LP19320-8 Dodecanoylcarnitine (C12)
Dodecanoylcarnitine is a primary marker for Very long-chain acyl-CoA dehydrogenase deficiency.
Source: Regenstrief Institute
Observation Required in Panel
Conditional
Type of Entry
Question expects user entry - requires response [Q]
Fully-Specified Name
- Component
- Dodecanoylcarnitine (C12)
- Property
- SCnc
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- Dodecanoylcarn DBS-sCnc
- Display Name
- C12 (DBS) [Moles/Vol]
- Consumer Name Alpha Get Info
- C12, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.17
- Last Updated
- Version 2.73
- Order vs. Observation
- Both
- Common Test Rank Get Info
- 18895
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 58092-8 | Acylcarnitine newborn screen panel |
| 53262-2 | Carnitine newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Dodecanoilcarnitina (C12): Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Dodecanoilcarnitina (C12): |
| et-EE | Estonian (Estonia) | Dodekanoüülkarnitiin (C12): Synonyms: Aine kontsentratsioon Juhuslik Kvantitatiivne Veri |
| fr-CA | French (Canada) | Dodecanoylcarnitine (C12): |
| fr-FR | French (France) | Dodécanoylcarnitine (C12): |
| fr-BE | French (Belgium) | Dodecanoylcarnitine (C12): |
| it-IT | Italian (Italy) | Dodecanoilcarnitina (C12): Synonyms: Chimica Concentrazione di Sostanza Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | dodecanoylcarnitine (C12): |
| pt-BR | Portuguese (Brazil) | Dodecanoilcarnitina (C12): Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Додеканоилкарнитин (C12): Synonyms: Количественный Кровь Кровь сухая капля Молярность; |
| tr-TR | Turkish (Turkey) | Dodekanoilkarnitin (C12): |
| zh-CN | Chinese (China) | 十二烷酰肉碱 (C12): Synonyms: 克分子浓度; |
Example Units
| Unit | Source |
|---|---|
| umol/L | Example UCUM Units |
53188-9 3-Hydroxydodecenoylcarnitine (C12:1-OH) [Moles/volume] in DBS
Part Descriptions
LP70088-7 3-Hydroxydodecenoylcarnitine (C12:1-OH)
3-Hydroxydodecenoylcarnitine is a primary marker for Very long-chain acyl-CoA dehydrogenase deficiency.
Source: Regenstrief LOINC
Observation Required in Panel
Conditional
Type of Entry
Question expects user entry - requires response [Q]
Fully-Specified Name
- Component
- 3-Hydroxydodecenoylcarnitine (C12:1-OH)
- Property
- SCnc
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- 3-OH-dodecenoylcarn DBS-sCnc
- Display Name
- C12:1-OH (DBS) [Moles/Vol]
- Consumer Name Alpha Get Info
- C12:1-OH, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.24
- Last Updated
- Version 2.73
- Order vs. Observation
- Both
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 58092-8 | Acylcarnitine newborn screen panel |
| 53262-2 | Carnitine newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | 3-Hidroxidodecenoilcarnitina (C12: Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | 3-hidroxidodecenoilcarnitina (C12: |
| et-EE | Estonian (Estonia) | 3-hüdroksüdodekenoüülkarnitiin (C12: Synonyms: Aine kontsentratsioon Juhuslik Kvantitatiivne Veri |
| fr-CA | French (Canada) | 3-hydroxydodécenoylcarnitine (C12: |
| fr-FR | French (France) | 3-hydroxydodécènoylcarnitine (C12: |
| fr-BE | French (Belgium) | 3-Hydroxydodécenoylcarnitine (C12: |
| it-IT | Italian (Italy) | 3-Idrossidodecenoilcarnitina (C12: Synonyms: Chimica Concentrazione di Sostanza Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | 3-hydroxydodecenoylcarnitine (C12: |
| pt-BR | Portuguese (Brazil) | 3-Hidroxidodecenoilcarnitina (C12: Synonyms: ; |
| ru-RU | Russian (Russian Federation) | 3-Гидроксидодеценоилкарнитин (C12: Synonyms: Количественный Кровь Кровь сухая капля Молярность; |
| tr-TR | Turkish (Turkey) | 3-Hidroksidodecenoylkarnitin (C12: |
| zh-CN | Chinese (China) | 3-羟基十二烯酸基肉碱 (C12: Synonyms: Ⅰ 3-羟基十二烯酸基肉碱（肉毒碱、 |
Example Units
| Unit | Source |
|---|---|
| umol/L | Example UCUM Units |
53189-7 3-Hydroxydodecanoylcarnitine (C12-OH) [Moles/volume] in DBS
Part Descriptions
LP28984-0 3-Hydroxydodecanoylcarnitine (C12-OH)
3-Hydroxydodecanoylcarnitine is a secondary marker for Long-chain L-3-Hydroxy dehydrogenase deficiency, and Trifunctional protein deficiency.
Source: Regenstrief LOINC
Observation Required in Panel
Conditional
Type of Entry
Question expects user entry - requires response [Q]
Fully-Specified Name
- Component
- 3-Hydroxydodecanoylcarnitine (C12-OH)
- Property
- SCnc
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- 3OH-Dodecanoylcarn DBS-sCnc
- Display Name
- C12-OH (DBS) [Moles/Vol]
- Consumer Name Alpha Get Info
- C12-OH, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.24
- Last Updated
- Version 2.73
- Order vs. Observation
- Both
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 58092-8 | Acylcarnitine newborn screen panel |
| 53262-2 | Carnitine newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | 3-hidroxidodecanoilcarnitina (C12-OH): Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | 3-hidroxidodecanoilcarnitina (C12-OH): |
| et-EE | Estonian (Estonia) | 3-hüdroksüdodekanoüülkarnitiin (C12-OH): Synonyms: Aine kontsentratsioon Juhuslik Kvantitatiivne Veri |
| fr-CA | French (Canada) | 3-hydroxydodécanoylcarnitine: |
| fr-FR | French (France) | 3-hydroxydodécanoylcarnitine (C12-OH): |
| fr-BE | French (Belgium) | 3-hydroxydodécanoylcarnitine (C12: |
| it-IT | Italian (Italy) | 3-Idrossidodecanoilcarnitina (C12-OH): Synonyms: Chimica Concentrazione di Sostanza Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | 3-hydroxydodecanoylcarnitine (C12-OH): |
| pt-BR | Portuguese (Brazil) | 3-Hidroxidodecanoilcarnitina (C12-OH): Synonyms: ; |
| ru-RU | Russian (Russian Federation) | 3-Гидроксидодеканоилкарнитин (C12-OH): Synonyms: Количественный Кровь Кровь сухая капля Молярность; |
| tr-TR | Turkish (Turkey) | 3-Hidroksidodekanoylkarnitin (C12-OH): |
| zh-CN | Chinese (China) | 3-羟基十二烷酰肉碱 (C12-OH): Synonyms: 3-羟基十二烷酰肉碱（肉毒碱、 |
Example Units
| Unit | Source |
|---|---|
| umol/L | Example UCUM Units |
53190-5 Tetradecadienoylcarnitine (C14:2) [Moles/volume] in DBS
Part Descriptions
LP19321-6 Tetradecadienoylcarnitine (C14:2)
Tetradecadienoylcarnitine is a primary marker for Glutaric acidemia type I. Secondary marker for Maternal glutaric acidemia type I.
Source: Regenstrief LOINC
Observation Required in Panel
Conditional
Type of Entry
Question expects user entry - requires response [Q]
Fully-Specified Name
- Component
- Tetradecadienoylcarnitine (C14:2)
- Property
- SCnc
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- Tdecadienoylcarn DBS-sCnc
- Display Name
- C14:2 (DBS) [Moles/Vol]
- Consumer Name Alpha Get Info
- C14:2, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.24
- Last Updated
- Version 2.73
- Order vs. Observation
- Both
- Common Test Rank Get Info
- 17564
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 58092-8 | Acylcarnitine newborn screen panel |
| 53262-2 | Carnitine newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Tetradecadienoilcarnitina (C14: Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Tetradecadienoilcarnitina (C14: |
| et-EE | Estonian (Estonia) | Tetradekadienoüülkarnitiin (C14: Synonyms: Aine kontsentratsioon Juhuslik Kvantitatiivne Veri |
| fr-CA | French (Canada) | Tétradecadienoylcarnitine (C14: |
| fr-FR | French (France) | Tétradécadiénoylcarnitine (C14: |
| fr-BE | French (Belgium) | Tétradecadienoylcarnitine (C14: |
| it-IT | Italian (Italy) | Tetradecadienoilcarnitina (C14: Synonyms: Chimica Concentrazione di Sostanza Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | tetradecadienoylcarnitine (C14: |
| pt-BR | Portuguese (Brazil) | Tetradecadienoilcarnitina (C14: Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Тетрадекадиеноилкарнитин (C14: Synonyms: Количественный Кровь Кровь сухая капля Молярность; |
| tr-TR | Turkish (Turkey) | Tetradekadienoilkarnitin (C14: |
| zh-CN | Chinese (China) | 十四烷二烯酰肉碱 (C14: Synonyms: Ⅱ II 克分子浓度; |
Example Units
| Unit | Source |
|---|---|
| umol/L | Example UCUM Units |
53191-3 Tetradecenoylcarnitine (C14:1) [Moles/volume] in DBS
Part Descriptions
LP19322-4 Tetradecenoylcarnitine (C14:1)
Tetradecenoylcarnitine is a primary marker for Glutaric acidemia type I and Maternal glutaric acidemia type I.
Source: Regenstrief LOINC
Observation Required in Panel
Conditional
Type of Entry
Question expects user entry - requires response [Q]
Fully-Specified Name
- Component
- Tetradecenoylcarnitine (C14:1)
- Property
- SCnc
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- Tdecenoylcarn DBS-sCnc
- Display Name
- C14:1 (DBS) [Moles/Vol]
- Consumer Name Alpha Get Info
- C14:1, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.24
- Last Updated
- Version 2.73
- Order vs. Observation
- Both
- Common Test Rank Get Info
- 18166
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 58092-8 | Acylcarnitine newborn screen panel |
| 53262-2 | Carnitine newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Tetradecenoilcarnitina (C14: Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Tetradecenoilcarnitina (C14: |
| et-EE | Estonian (Estonia) | Tetradekenoüülkarnitiin (C14: Synonyms: Aine kontsentratsioon Juhuslik Kvantitatiivne Veri |
| fr-CA | French (Canada) | Tétradécenoylcarnitine (C14: |
| fr-FR | French (France) | Tétradécènoylcarnitine (C14: |
| fr-BE | French (Belgium) | Tétradécenoylcarnitine (C14: |
| it-IT | Italian (Italy) | Tetradecenoilcarnitina (C14: Synonyms: Chimica Concentrazione di Sostanza Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | tetradecenoylcarnitine (C14: |
| pt-BR | Portuguese (Brazil) | Tetradecenoilcarnitina (C14: Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Тетрадеценоилкарнитин (C14: Synonyms: Количественный Кровь Кровь сухая капля Молярность; |
| tr-TR | Turkish (Turkey) | Tetradecenoilkarnitin (C14: |
| zh-CN | Chinese (China) | 十四烯酰肉碱 (C14: Synonyms: Ⅰ I 克分子浓度; |
Example Units
| Unit | Source |
|---|---|
| umol/L | Example UCUM Units |
53192-1 Tetradecanoylcarnitine (C14) [Moles/volume] in DBS
Part Descriptions
LP29117-6 Tetradecanoylcarnitine (C14)
Tetradecanoylcarnitine is a secondary marker for Very long-chain acyl-CoA dehydrogenase deficiency.
Source: Regenstrief Institute
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Tetradecanoylcarnitine (C14)
- Property
- SCnc
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- Tdecanoylcarn DBS-sCnc
- Display Name
- C14 (DBS) [Moles/Vol]
- Consumer Name Alpha Get Info
- C14, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.24
- Last Updated
- Version 2.73
- Order vs. Observation
- Both
- Common Test Rank Get Info
- 11288
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 58092-8 | Acylcarnitine newborn screen panel |
| 53262-2 | Carnitine newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Tetradecanoilcarnitina (C14): Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Tetradecanoilcarnitina (C14): |
| et-EE | Estonian (Estonia) | Tetradekanoüülkarnitiin (C14): Synonyms: Aine kontsentratsioon Juhuslik Kvantitatiivne Veri |
| fr-CA | French (Canada) | Tétradécanoylcarnitine (C14): |
| fr-FR | French (France) | Tétradécanoylcarnitine (C14): |
| fr-BE | French (Belgium) | Tétradécanoylcarnitine (C14): |
| it-IT | Italian (Italy) | Tetradecanoilcarnitina (C14): Synonyms: Chimica Concentrazione di Sostanza Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | tetradecanoylcarnitine (C14): |
| pt-BR | Portuguese (Brazil) | Tetradecanoilcarnitina (C14): Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Тетрадеканоилкарнитин (C14): Synonyms: Количественный Кровь Кровь сухая капля Молярность; |
| tr-TR | Turkish (Turkey) | Tetradekanoilkarnitin (C14): |
| zh-CN | Chinese (China) | 十四烷酰肉碱 (C14): Synonyms: 克分子浓度; |
Example Units
| Unit | Source |
|---|---|
| umol/L | Example UCUM Units |
53193-9 Tetradecenoylcarnitine (C14:1)/Acetylcarnitine (C2) [Molar ratio] in DBS
Term Description
Tetradecenoylcarnitine/Acetylcarnitine is a secondary marker for Very long-chain acyl-CoA dehydrogenase deficiency.
Source: Regenstrief LOINC
Part Descriptions
LP19322-4 Tetradecenoylcarnitine (C14:1)
Tetradecenoylcarnitine is a primary marker for Glutaric acidemia type I and Maternal glutaric acidemia type I.
Source: Regenstrief LOINC
LP70165-3 Acetylcarnitine (C2)
Acetyl-L-carnitine or ALCAR, is an acetylated form of L-carnitine. ALCAR has been claimed to be superior to normal L-carnitine in terms of bioavailability. However, at least one study has suggested that the acetylated form may have a lower oral bioavailability.
Copyright Text is available under the Creative Commons Attribution/Share-Alike License. See http://creativecommons.org/licenses/by-sa/3.0/ for details.
Source: Wikipedia, Acetylcarnitine
Observation Required in Panel
Conditional
Type of Entry
Question expects user entry - requires response [Q]
Fully-Specified Name
- Component
- Tetradecenoylcarnitine (C14:1)/Acetylcarnitine (C2)
- Property
- SRto
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- Tdecenoylcarn/C2 DBS-sRto
- Display Name
- C14:1/Acetylcarnitine (C2) (DBS) [Molar ratio]
- Consumer Name Alpha Get Info
- C14:1/Acetylcarnitine (C2), Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.24
- Last Updated
- Version 2.73
- Order vs. Observation
- Both
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 58092-8 | Acylcarnitine newborn screen panel |
| 53262-2 | Carnitine newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Tetradecenoilcarnitina (C14: Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Tetradecenoilcarnitina (C14: |
| fr-CA | French (Canada) | Tétradécenoylcarnitine (C14: |
| fr-FR | French (France) | Tétradécènoylcarnitine (C14: |
| fr-BE | French (Belgium) | Tétradécenoylcarnitine (C14: |
| it-IT | Italian (Italy) | Tetradecenoilcarnitina (C14: Synonyms: Chimica Punto nel tempo (episodio) Rapporto di sostanza Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | tetradecenoylcarnitine (C14: |
| pt-BR | Portuguese (Brazil) | Tetradecenoilcarnitina (C14: Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Тетрадеценоилкарнитин (C14: Synonyms: Количественный Кровь Кровь сухая капля Мольная доля; |
| tr-TR | Turkish (Turkey) | Tetradecenoilkarnitin (C14: Synonyms: SubsOranı |
| zh-CN | Chinese (China) | 十四烯酰肉碱 (C14: Synonyms: Ⅰ I 乙酰肉碱（肉毒碱、 |
Example Units
| Unit | Source |
|---|---|
| {Ratio} | Example UCUM Units |
53194-7 Tetradecenoylcarnitine (C14:1)/Dodecenoylcarnitine (C12:1) [Molar ratio] in DBS
Term Description
Tetradecenoylcarnitine/Dodecenoylcarnitine is a primary marker for 3-Hydroxy-3-methylglutaric aciduria.
Source: Regenstrief LOINC
Part Descriptions
LP19322-4 Tetradecenoylcarnitine (C14:1)
Tetradecenoylcarnitine is a primary marker for Glutaric acidemia type I and Maternal glutaric acidemia type I.
Source: Regenstrief LOINC
LP70355-0 Dodecenoylcarnitine (C12:1)
Dodecenoylcarnitine is a primary marker for Very long-chain acyl-CoA dehydrogenase deficiency. Secondary marker for Carnitine acylcarnitine translocase deficiency, and Carnitine palmitoyltransferase II deficiency.
Source: Regenstrief LOINC
Observation Required in Panel
Conditional
Type of Entry
Question expects user entry - requires response [Q]
Fully-Specified Name
- Component
- Tetradecenoylcarnitine (C14:1)/Dodecenoylcarnitine (C12:1)
- Property
- SRto
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- Tdecenoylcarn/C12:1 DBS-sRto
- Display Name
- C14:1/Dodecenoylcarnitine (C12:1) (DBS) [Molar ratio]
- Consumer Name Alpha Get Info
- C14:1/Dodecenoylcarnitine (C12:1), Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.24
- Last Updated
- Version 2.73
- Order vs. Observation
- Both
- Common Test Rank Get Info
- 18649
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 58092-8 | Acylcarnitine newborn screen panel |
| 53262-2 | Carnitine newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Tetradecenoilcarnitina (C14: Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Tetradecenoilcarnitina (C14: |
| fr-CA | French (Canada) | Tétradécenoylcarnitine (C14: |
| fr-FR | French (France) | Tétradécènoylcarnitine (C14: |
| fr-BE | French (Belgium) | Tétradécenoylcarnitine (C14: |
| it-IT | Italian (Italy) | Tetradecenoilcarnitina (C14: Synonyms: Chimica Punto nel tempo (episodio) Rapporto di sostanza Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | tetradecenoylcarnitine (C14: |
| pt-BR | Portuguese (Brazil) | Tetradecenoilcarnitina (C14: Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Тетрадеценоилкарнитин (C14: Synonyms: Количественный Кровь Кровь сухая капля Мольная доля; |
| tr-TR | Turkish (Turkey) | Tetradecenoilkarnitin (C14: Synonyms: SubsOranı |
| zh-CN | Chinese (China) | 十四烯酰肉碱 (C14: Synonyms: Ⅰ I 全血斑点(滤纸); |
Example Units
| Unit | Source |
|---|---|
| {Ratio} | Example UCUM Units |
53195-4 Tetradecenoylcarnitine (C14:1)/Palmitoylcarnitine (C16) [Molar ratio] in DBS
Term Description
Tetradecenoylcarnitine/Palmitoylcarnitine is a secondary marker for Long-chain L-3-Hydroxy dehydrogenase deficiency, and Trifunctional protein deficiency.
Source: Regenstrief LOINC
Part Descriptions
LP19322-4 Tetradecenoylcarnitine (C14:1)
Tetradecenoylcarnitine is a primary marker for Glutaric acidemia type I and Maternal glutaric acidemia type I.
Source: Regenstrief LOINC
LP70162-0 Palmitoylcarnitine (C16)
Palmitoylcarnitine is a primary marker for Very long-chain acyl-CoA dehydrogenase deficiency, Long-chain L-3-Hydroxy dehydrogenase deficiency, Trifunctional protein deficiency, Carnitine palmitoyltransferase I deficiency, Carnitine acylcarnitine translocase deficiency, and Carnitine palmitoyltransferase II deficiency. Secondary marker for Carnitine uptake defect.
Source: Regenstrief LOINC
Observation Required in Panel
Conditional
Type of Entry
Question expects user entry - requires response [Q]
Fully-Specified Name
- Component
- Tetradecenoylcarnitine (C14:1)/Palmitoylcarnitine (C16)
- Property
- SRto
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- Tdecenoylcarn/C16 DBS-sRto
- Display Name
- C14:1/Palmitoylcarnitine (C16) (DBS) [Molar ratio]
- Consumer Name Alpha Get Info
- C14:1/Palmitoylcarnitine (C16), Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.24
- Last Updated
- Version 2.73
- Order vs. Observation
- Both
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 58092-8 | Acylcarnitine newborn screen panel |
| 53262-2 | Carnitine newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Tetradecenoilcarnitina (C14: Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Tetradecenoilcarnitina (C14: |
| fr-CA | French (Canada) | Tétradécenoylcarnitine (C14: |
| fr-FR | French (France) | Tétradécènoylcarnitine (C14: |
| fr-BE | French (Belgium) | Tétradécenoylcarnitine (C14: |
| it-IT | Italian (Italy) | Tetradecenoilcarnitina (C14: Synonyms: Chimica Punto nel tempo (episodio) Rapporto di sostanza Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | tetradecenoylcarnitine (C14: |
| pt-BR | Portuguese (Brazil) | Propionilcarnitina (C3)/Palmitoilcarnitina (C16): Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Тетрадеценоилкарнитин (C14: Synonyms: Количественный Кровь Кровь сухая капля Мольная доля; |
| tr-TR | Turkish (Turkey) | Tetradecenoilkarnitin (C14: Synonyms: SubsOranı |
| zh-CN | Chinese (China) | 十四烯酰肉碱 (C14: Synonyms: Ⅰ I 全血斑点(滤纸); |
Example Units
| Unit | Source |
|---|---|
| {Ratio} | Example UCUM Units |
70159-9 Tetradecenoylcarnitine (C14:1)/Tetradecanoylcarnitine (C14) [Molar ratio] in DBS
Part Descriptions
LP19322-4 Tetradecenoylcarnitine (C14:1)
Tetradecenoylcarnitine is a primary marker for Glutaric acidemia type I and Maternal glutaric acidemia type I.
Source: Regenstrief LOINC
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Tetradecenoylcarnitine (C14:1)/Tetradecanoylcarnitine (C14)
- Property
- SRto
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- Tdecenoylcarn/C14 DBS-sRto
- Display Name
- C14:1/Tetradecanoylcarnitine (C14) (DBS) [Molar ratio]
- Consumer Name Alpha Get Info
- C14:1/Tetradecanoylcarnitine (C14), Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.40
- Last Updated
- Version 2.73
- Order vs. Observation
- Both
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 58092-8 | Acylcarnitine newborn screen panel |
| 53262-2 | Carnitine newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Tetradecenoilcarnitina (C14: Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Tetradecenoilcarnitina (C14: |
| fr-CA | French (Canada) | Tétradécenoylcarnitine (C14: |
| fr-FR | French (France) | Tétradécènoylcarnitine (C14: |
| it-IT | Italian (Italy) | Tetradecenoilcarnitina (C14: Synonyms: Chimica Punto nel tempo (episodio) Rapporto di sostanza Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | tetradecenoylcarnitine (C14: |
| pt-BR | Portuguese (Brazil) | Tetradecenoilcarnitine (C14: |
| ru-RU | Russian (Russian Federation) | Тетрадеценоилкарнитин (C14: Synonyms: Количественный Кровь Кровь сухая капля Мольная доля; |
| tr-TR | Turkish (Turkey) | Tetradecenoilkarnitin (C14: Synonyms: SubsOranı |
| zh-CN | Chinese (China) | 十四烯酰肉碱 (C14: Synonyms: Ⅰ I 全血斑点(滤纸); |
Example Units
| Unit | Source |
|---|---|
| {ratio} | Example UCUM Units |
53196-2 3-Hydroxytetradecadienoylcarnitine (C14:2-OH) [Moles/volume] in DBS
Observation Required in Panel
Conditional
Type of Entry
Question expects user entry - requires response [Q]
Fully-Specified Name
- Component
- 3-Hydroxytetradecadienoylcarnitine (C14:2-OH)
- Property
- SCnc
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- 3OH-Tdecadienoylcar DBS-sCnc
- Display Name
- 3-Hydroxytetradecadienoylcarnitine (C14:2-OH) (DBS) [Moles/Vol]
- Consumer Name Alpha Get Info
- 3-Hydroxytetradecadienoylcarnitine (C14:2-OH), Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.24
- Last Updated
- Version 2.73
- Order vs. Observation
- Both
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 58092-8 | Acylcarnitine newborn screen panel |
| 53262-2 | Carnitine newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | 3-Hidroxitetradecadienoilcarnitina (C14: Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | 3-hidroxitetradecadienoilcarnitina (C14: |
| et-EE | Estonian (Estonia) | 3-hüdroksütetradekadieenoüülkarnitiin (C14: Synonyms: Aine kontsentratsioon Juhuslik Kvantitatiivne Veri |
| fr-CA | French (Canada) | 3-hydroxytetradecadienoylcarnitine (C14: |
| fr-FR | French (France) | 3-hydroxytétradécadiénoylcarnitine (C14: |
| fr-BE | French (Belgium) | 3-Hydroxytetradecadienoylcarnitine (C14: |
| it-IT | Italian (Italy) | 3-Idrossitetradecadienoilcarnitina (C14: Synonyms: Chimica Concentrazione di Sostanza Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | 3-hydroxytetradecadienoylcarnitine (C14: |
| pt-BR | Portuguese (Brazil) | 3-Hidroxitetradecadienoilcarnitina (C14: Synonyms: ; |
| ru-RU | Russian (Russian Federation) | 3-Гидрокситетрадекадиеноилкарнитин (C14: Synonyms: Количественный Кровь Кровь сухая капля Молярность; |
| tr-TR | Turkish (Turkey) | 3-Hidroksitetradekadienoilkarnitin (C14: |
| zh-CN | Chinese (China) | 3-羟基十四烷二烯酰肉碱 (C14: Synonyms: Ⅱ 3-羟基十四烷二烯酰肉碱（肉毒碱、 |
Example Units
| Unit | Source |
|---|---|
| umol/L | Example UCUM Units |
53197-0 3-Hydroxytetradecenoylcarnitine (C14:1-OH) [Moles/volume] in DBS
Observation Required in Panel
Conditional
Type of Entry
Question expects user entry - requires response [Q]
Fully-Specified Name
- Component
- 3-Hydroxytetradecenoylcarnitine (C14:1-OH)
- Property
- SCnc
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- 3OH-Tdecenoylcarn DBS-sCnc
- Display Name
- 3-Hydroxytetradecenoylcarnitine (C14:1-OH) (DBS) [Moles/Vol]
- Consumer Name Alpha Get Info
- 3-Hydroxytetradecenoylcarnitine (C14:1-OH), Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.24
- Last Updated
- Version 2.73
- Order vs. Observation
- Both
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 58092-8 | Acylcarnitine newborn screen panel |
| 53262-2 | Carnitine newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | 3-Hidroxitetradecenoilcarnitina (C14: Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | 3-hidroxitetradecenoilcarnitina (C14: |
| et-EE | Estonian (Estonia) | 3-hüdroksütetradekenoüülkarnitiin (C14: Synonyms: Aine kontsentratsioon Juhuslik Kvantitatiivne Veri |
| fr-CA | French (Canada) | 3-hydroxytetradecenoylcarnitine (C14: |
| fr-FR | French (France) | 3-hydroxytétradécènoylcarnitine (C14: |
| fr-BE | French (Belgium) | 3-Hydroxytetradecenoylcarnitine (C14: |
| it-IT | Italian (Italy) | 3-Idrossitetradecenoilcarnitina (C14: Synonyms: Chimica Concentrazione di Sostanza Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | 3-hydroxytetradecenoylcarnitine (C14: |
| pt-BR | Portuguese (Brazil) | 3-Hidroxitetradecenoilcarnitina (C14: Synonyms: ; |
| ru-RU | Russian (Russian Federation) | 3-Гидрокситетрадеценоилкарнитин (C14: Synonyms: Количественный Кровь Кровь сухая капля Молярность; |
| tr-TR | Turkish (Turkey) | 3-Hidroksitetradekenoylkarnitin (C14: |
| zh-CN | Chinese (China) | 3-羟基十四烯酰肉碱 (C14: Synonyms: Ⅰ 3-羟基十四烯酰肉碱（肉毒碱、 |
Example Units
| Unit | Source |
|---|---|
| umol/L | Example UCUM Units |
50281-5 3-Hydroxytetradecanoylcarnitine (C14-OH) [Moles/volume] in DBS
Observation Required in Panel
Conditional
Type of Entry
Question expects user entry - requires response [Q]
Fully-Specified Name
- Component
- 3-Hydroxytetradecanoylcarnitine (C14-OH)
- Property
- SCnc
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- 3OH-Tdecanoylcarn DBS-sCnc
- Display Name
- C14-OH (DBS) [Moles/Vol]
- Consumer Name Alpha Get Info
- C14-OH, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.22
- Last Updated
- Version 2.73
- Order vs. Observation
- Both
- Common Test Rank Get Info
- 18760
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 58092-8 | Acylcarnitine newborn screen panel |
| 53262-2 | Carnitine newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | 3-hidroxitetradecanoilcarnitina (C14-OH): Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | 3-hidroxitetradecanoilcarnitina (C14-OH): |
| et-EE | Estonian (Estonia) | 3-hüdroksütetradekanoüülkarnitiin (C14-OH): Synonyms: Aine kontsentratsioon Juhuslik Kvantitatiivne Veri |
| fr-CA | French (Canada) | 3-hydroxytétradécanoylcarnitine: |
| fr-FR | French (France) | 3-hydroxytétradécanoylcarnitine (C14-OH): |
| fr-BE | French (Belgium) | 3-hydroxytétradécanoylcarnitine (C14-OH): |
| it-IT | Italian (Italy) | 3-Idrossitetradecanoilcarnitina (C14-OH): Synonyms: Chimica Concentrazione di Sostanza Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | 3-hydroxytetradecanoylcarnitine (C14-OH): |
| pt-BR | Portuguese (Brazil) | 3-Hidroxitetradecanoilcarnitina (C14-OH): Synonyms: ; |
| ru-RU | Russian (Russian Federation) | 3-Гидрокситетрадеканоилкарнитин (C14-OH): Synonyms: Количественный Кровь Кровь сухая капля Молярность; |
| tr-TR | Turkish (Turkey) | 3-Hidroksitetradekenoylkarnitin (C14-OH): |
| zh-CN | Chinese (China) | 3-羟基十四烷酰肉碱 (C14-OH): Synonyms: 3-羟基十四烷酰肉碱（肉毒碱、 |
Example Units
| Unit | Source |
|---|---|
| umol/L | Example UCUM Units |
53198-8 Palmitoleylcarnitine (C16:1) [Moles/volume] in DBS
Part Descriptions
LP29060-8 Palmitoleylcarnitine (C16:1)
Palmitoleylcarnitine is a secondary marker for Very long-chain acyl-CoA dehydrogenase deficiency, Long-chain L-3-Hydroxy dehydrogenase deficiency, Trifunctional protein deficiency, Carnitine acylcarnitine translocase deficiency, and Carnitine palmitoyltransferase II deficiency.
Source: Regenstrief LOINC
Observation Required in Panel
Conditional
Type of Entry
Question expects user entry - requires response [Q]
Fully-Specified Name
- Component
- Palmitoleylcarnitine (C16:1)
- Property
- SCnc
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- Palmitoleylcarn DBS-sCnc
- Display Name
- C16:1 (DBS) [Moles/Vol]
- Consumer Name Alpha Get Info
- C16:1, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.24
- Last Updated
- Version 2.73
- Order vs. Observation
- Both
- Common Test Rank Get Info
- 17507
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 58092-8 | Acylcarnitine newborn screen panel |
| 53262-2 | Carnitine newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Palmitoleilcarnitina (C16: Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Palmitoleilcarnitina (C16: |
| et-EE | Estonian (Estonia) | Palmitoleüülkarnitiin (C16: Synonyms: Aine kontsentratsioon Juhuslik Kvantitatiivne Veri |
| fr-CA | French (Canada) | Palmitoleylcarnitine (C16: |
| fr-FR | French (France) | Palmitoléylcarnitine (C16: |
| fr-BE | French (Belgium) | Palmitoleylcarnitine (C16: |
| it-IT | Italian (Italy) | Palmitoleilcarnitina (C16: Synonyms: Chimica Concentrazione di Sostanza Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | palmitoleylcarnitine (C16: |
| pt-BR | Portuguese (Brazil) | Palmitoleilcarnitina (C16: Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Пальмитоилкарнитин (C16: Synonyms: Количественный Кровь Кровь сухая капля Молярность; |
| tr-TR | Turkish (Turkey) | Palmitoleilkarnitin (C16: |
| zh-CN | Chinese (China) | 棕榈烯酰肉碱 (C16: Synonyms: Ⅰ I 克分子浓度; |
Example Units
| Unit | Source |
|---|---|
| umol/L | Example UCUM Units |
53199-6 Palmitoylcarnitine (C16) [Moles/volume] in DBS
Part Descriptions
LP19325-7 Palmitoylcarnitine (C16)
Palmitoylcarnitine is a primary marker for Very long-chain acyl-CoA dehydrogenase deficiency, Long-chain L-3-Hydroxy dehydrogenase deficiency, Trifunctional protein deficiency, Carnitine palmitoyltransferase I deficiency, Carnitine acylcarnitine translocase deficiency, and Carnitine palmitoyltransferase II deficiency. Secondary marker for Carnitine uptake defect.
Source: Regenstrief LOINC
Observation Required in Panel
Conditional
Type of Entry
Question expects user entry - requires response [Q]
Fully-Specified Name
- Component
- Palmitoylcarnitine (C16)
- Property
- SCnc
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- Palmitoylcarn DBS-sCnc
- Display Name
- C16 (DBS) [Moles/Vol]
- Consumer Name Alpha Get Info
- C16, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.24
- Last Updated
- Version 2.73
- Order vs. Observation
- Both
- Common Test Rank Get Info
- 19433
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 58092-8 | Acylcarnitine newborn screen panel |
| 53262-2 | Carnitine newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Palmitoilcarnitina (C16): Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Palmitoilcarnitina (C16): |
| et-EE | Estonian (Estonia) | Palmitoüülkarnitiin (C16): Synonyms: Aine kontsentratsioon Juhuslik Kvantitatiivne Veri |
| fr-CA | French (Canada) | Palmitoylcarnitine (C16): |
| fr-FR | French (France) | Palmitoylcarnitine (C16): |
| fr-BE | French (Belgium) | Palmitoylcarnitine (C16): |
| it-IT | Italian (Italy) | Palmitoilcarnitina (C16): Synonyms: Chimica Concentrazione di Sostanza Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | palmitoylcarnitine (C16): |
| pt-BR | Portuguese (Brazil) | Palmitoilcarnitina (C16): Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Пальмитоилкарнитин (C16): Synonyms: Количественный Кровь Кровь сухая капля Молярность; |
| tr-TR | Turkish (Turkey) | Palmitoilkarnitin (C16): |
| zh-CN | Chinese (China) | 棕榈酰肉碱 (C16): Synonyms: 克分子浓度; |
Example Units
| Unit | Source |
|---|---|
| umol/L | Example UCUM Units |
50121-3 3-Hydroxypalmitoleylcarnitine (C16:1-OH) [Moles/volume] in DBS
Part Descriptions
LP28986-5 3-Hydroxypalmitoleylcarnitine (C16:1-OH)
3-Hydroxypalmitoleylcarnitine is a primary marker for Long-chain L-3-Hydroxy dehydrogenase deficiency, and Trifunctional protein deficiency.
Source: Regenstrief LOINC
Observation Required in Panel
Conditional
Type of Entry
Question expects user entry - requires response [Q]
Fully-Specified Name
- Component
- 3-Hydroxypalmitoleylcarnitine (C16:1-OH)
- Property
- SCnc
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- 3OH-Palmitoleylcarn DBS-sCnc
- Display Name
- C16:1-OH (DBS) [Moles/Vol]
- Consumer Name Alpha Get Info
- C16:1-OH, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.22
- Last Updated
- Version 2.73
- Order vs. Observation
- Both
- Common Test Rank Get Info
- 17957
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 58092-8 | Acylcarnitine newborn screen panel |
| 53262-2 | Carnitine newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | 3-hidroxipalmitoleilcarnitina (C16: Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | 3-hidroxipamitoleilcarnitina (C16: |
| et-EE | Estonian (Estonia) | 3-hüdroksüpalmitoleüülkarnitiin (C16: Synonyms: Aine kontsentratsioon Juhuslik Kvantitatiivne Veri |
| fr-CA | French (Canada) | 3-hydroxypalmitoleylcarnitine: |
| fr-FR | French (France) | 3-hydroxypalmitoléylcarnitine (C16: |
| fr-BE | French (Belgium) | 3-hydroxypalmitoleylcarnitine (C16: |
| it-IT | Italian (Italy) | 3-Idrossipalmitoleilcarnitina (C16: Synonyms: Chimica Concentrazione di Sostanza Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | 3-hydroxypalmitoleylcarnitine (C16: |
| pt-BR | Portuguese (Brazil) | 3-Hidroxipalmitoleilcarnitina (C16: Synonyms: ; |
| ru-RU | Russian (Russian Federation) | 3-Гидроксипальмитолеилкарнитин (C16: Synonyms: Количественный Кровь Кровь сухая капля Молярность; |
| tr-TR | Turkish (Turkey) | 3-Hidroksipalmitoleilkarnitin (C16: |
| zh-CN | Chinese (China) | 3-羟基棕榈烯酰肉碱 (C16: Synonyms: Ⅰ 3-羟基棕榈烯酰肉碱（肉毒碱、 |
Example Units
| Unit | Source |
|---|---|
| umol/L | Example UCUM Units |
50125-4 3-Hydroxypalmitoylcarnitine (C16-OH) [Moles/volume] in DBS
Part Descriptions
LP19326-5 3-Hydroxypalmitoylcarnitine (C16-OH)
3-Hydroxypalmitoylcarnitine is a primary marker for Long-chain L-3-Hydroxy dehydrogenase deficiency, and Trifunctional protein deficiency.
Source: Regenstrief LOINC
Observation Required in Panel
Conditional
Type of Entry
Question expects user entry - requires response [Q]
Fully-Specified Name
- Component
- 3-Hydroxypalmitoylcarnitine (C16-OH)
- Property
- SCnc
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- 3OH-Palmitoylcarn DBS-sCnc
- Display Name
- C16-OH (DBS) [Moles/Vol]
- Consumer Name Alpha Get Info
- C16-OH, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.22
- Last Updated
- Version 2.73
- Order vs. Observation
- Both
- Common Test Rank Get Info
- 17963
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 58092-8 | Acylcarnitine newborn screen panel |
| 53262-2 | Carnitine newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | 3-Hidroxipalmitoilcarnitina (C16-OH): Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | 3-hidroxipamitoilcarnitina (C16-OH): |
| et-EE | Estonian (Estonia) | 3-hüdroksüpalmitoüülkarnitiin (C16-OH): Synonyms: Aine kontsentratsioon Juhuslik Kvantitatiivne Veri |
| fr-CA | French (Canada) | 3-hydroxypalmitoylcarnitine (C16-OH): |
| fr-FR | French (France) | 3-hydroxypalmitoylcarnitine (C16-OH): |
| fr-BE | French (Belgium) | 3-hydroxypalmitoylcarnitine (C16-OH): |
| it-IT | Italian (Italy) | 3-Idrossipalmitoilcarnitina (C16-OH): Synonyms: Chimica Concentrazione di Sostanza Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | 3-hydroxypalmitoylcarnitine (C16-OH): |
| pt-BR | Portuguese (Brazil) | 3-Hidroxipalmitoilcarnitina (C16-OH): Synonyms: ; |
| ru-RU | Russian (Russian Federation) | 3-Гидроксипальмитоилкарнитин (C16-OH): Synonyms: Количественный Кровь Кровь сухая капля Молярность; |
| tr-TR | Turkish (Turkey) | 3-Hidroksipalmitoilkarnitin (C16-OH): |
| zh-CN | Chinese (China) | 3-羟基棕榈酰肉碱 (C16-OH): Synonyms: 3-羟基棕榈酰肉碱（肉毒碱、 |
Example Units
| Unit | Source |
|---|---|
| umol/L | Example UCUM Units |
53201-0 3-Hydroxypalmitoylcarnitine (C16-OH)/Palmitoylcarnitine (C16) [Molar ratio] in DBS
Term Description
3-Hydroxypalmitoylcarnitine/Palmitoylcarnitine is a primary marker for Long-chain L-3-Hydroxy dehydrogenase deficiency, and Trifunctional protein deficiency.
Source: Regenstrief LOINC
Part Descriptions
LP19326-5 3-Hydroxypalmitoylcarnitine (C16-OH)
3-Hydroxypalmitoylcarnitine is a primary marker for Long-chain L-3-Hydroxy dehydrogenase deficiency, and Trifunctional protein deficiency.
Source: Regenstrief LOINC
LP70162-0 Palmitoylcarnitine (C16)
Palmitoylcarnitine is a primary marker for Very long-chain acyl-CoA dehydrogenase deficiency, Long-chain L-3-Hydroxy dehydrogenase deficiency, Trifunctional protein deficiency, Carnitine palmitoyltransferase I deficiency, Carnitine acylcarnitine translocase deficiency, and Carnitine palmitoyltransferase II deficiency. Secondary marker for Carnitine uptake defect.
Source: Regenstrief LOINC
Observation Required in Panel
Conditional
Type of Entry
Question expects user entry - requires response [Q]
Fully-Specified Name
- Component
- 3-Hydroxypalmitoylcarnitine (C16-OH)/Palmitoylcarnitine (C16)
- Property
- SRto
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- 3OH-Palmitoylcarn/C16 DBS-sRto
- Display Name
- C16-OH/Palmitoylcarnitine (C16) (DBS) [Molar ratio]
- Consumer Name Alpha Get Info
- C16-OH/Palmitoylcarnitine (C16), Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.24
- Last Updated
- Version 2.73
- Order vs. Observation
- Both
- Common Test Rank Get Info
- 19471
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 58092-8 | Acylcarnitine newborn screen panel |
| 53262-2 | Carnitine newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | 3-Hidroxipalmitoilcarnitina (C16-OH)/Palmitoilcarnitina (C16): Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | 3-Hydroxypalmitoylcarnitine (C16-OH) / Palmitoylcarnitine (C16): |
| fr-CA | French (Canada) | 3-hydroxypalmitoylcarnitine (C16-OH)/Palmitoylcarnitine (C16): |
| fr-FR | French (France) | 3-hydroxypalmitoylcarnitine (C16-OH)/palmitoylcarnitine (C16): |
| fr-BE | French (Belgium) | 3-hydroxypalmitoylcarnitine (C16-OH)/Palmitoylcarnitine (C16): |
| it-IT | Italian (Italy) | 3-Idrossipalmitoilcarnitina (C16-OH)/Palmitoilcarnitina (C16): Synonyms: Chimica Punto nel tempo (episodio) Rapporto di sostanza Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | 3-hydroxypalmitoylcarnitine (C16-OH)/palmitoylcarnitine (C16): |
| pt-BR | Portuguese (Brazil) | 3-Hidroxipalmitoilcarnitina (C16-OH/Palmitoilcarnitina (C16): Synonyms: ; |
| ru-RU | Russian (Russian Federation) | 3-Гидроксипальмитоилкарнитин (C16-OH)/Пальмитоилкарнитин (C16): Synonyms: Количественный Кровь Кровь сухая капля Мольная доля; |
| tr-TR | Turkish (Turkey) | 3-Hidroksipalmitoilkarnitin (C16-OH)/Palmitoilkarnitin (C16): Synonyms: SubsOranı |
| zh-CN | Chinese (China) | 3-羟基棕榈酰肉碱 (C16-OH)/棕榈酰肉碱 (C16): Synonyms: 3-羟基棕榈酰肉碱（肉毒碱、 |
Example Units
| Unit | Source |
|---|---|
| {Ratio} | Example UCUM Units |
45217-7 Linoleoylcarnitine (C18:2) [Moles/volume] in DBS
Part Descriptions
LP19327-3 Linoleoylcarnitine (C18:2)
Linoleoylcarnitine is a primary marker for Carnitine palmitoyltransferase I deficiency, Carnitine acylcarnitine translocase deficiency, and Carnitine palmitoyltransferase II deficiency. Secondary marker for Long-chain L-3-Hydroxy dehydrogenase deficiency, Trifunctional protein deficiency, and Carnitine uptake defect.
Source: Regenstrief Institute
Observation Required in Panel
Conditional
Type of Entry
Question expects user entry - requires response [Q]
Fully-Specified Name
- Component
- Linoleoylcarnitine (C18:2)
- Property
- SCnc
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- Linoleoylcarn DBS-sCnc
- Display Name
- C18:2 (DBS) [Moles/Vol]
- Consumer Name Alpha Get Info
- C18:2, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.17
- Last Updated
- Version 2.73
- Order vs. Observation
- Both
- Common Test Rank Get Info
- 12124
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 58092-8 | Acylcarnitine newborn screen panel |
| 53262-2 | Carnitine newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Linoleoilcarnitina (C18: Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Linoleoilcarnitina (C18: |
| et-EE | Estonian (Estonia) | Linoleoüülkarnitiin (C18: Synonyms: Aine kontsentratsioon Juhuslik Kvantitatiivne Veri |
| fr-CA | French (Canada) | Linoleoylcarnitine (C18: |
| fr-FR | French (France) | Linoléoylcarnitine (C18: |
| fr-BE | French (Belgium) | Linoleoylcarnitine (C18: |
| it-IT | Italian (Italy) | Linoleoilcarnitina (C18: Synonyms: Chimica Concentrazione di Sostanza Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | linoleoylcarnitine (C18: |
| pt-BR | Portuguese (Brazil) | Linoleoilcarnitina (C18: Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Линоленоилкарнитин (C18: Synonyms: Количественный Кровь Кровь сухая капля Молярность; |
| tr-TR | Turkish (Turkey) | Linoleoilkarnitin (C18: |
| zh-CN | Chinese (China) | 亚油酰肉碱 (C18: Synonyms: Ⅱ II 亚油酰肉碱（肉毒碱、 |
Example Units
| Unit | Source |
|---|---|
| umol/L | Example UCUM Units |
53202-8 Oleoylcarnitine (C18:1) [Moles/volume] in DBS
Part Descriptions
LP19328-1 Oleoylcarnitine (C18:1)
Oleoylcarnitine is a primary marker for Carnitine palmitoyltransferase I deficiency, Carnitine acylcarnitine translocase deficiency, and Carnitine palmitoyltransferase II deficiency. Secondary marker for Long-chain L-3-Hydroxy dehydrogenase deficiency, Trifunctional protein deficiency, and Carnitine uptake defect.
Source: Regenstrief LOINC
Observation Required in Panel
Conditional
Type of Entry
Question expects user entry - requires response [Q]
Fully-Specified Name
- Component
- Oleoylcarnitine (C18:1)
- Property
- SCnc
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- Oleoylcarn DBS-sCnc
- Display Name
- C18:1 (DBS) [Moles/Vol]
- Consumer Name Alpha Get Info
- C18:1, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.24
- Last Updated
- Version 2.73
- Order vs. Observation
- Both
- Common Test Rank Get Info
- 12270
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 58092-8 | Acylcarnitine newborn screen panel |
| 53262-2 | Carnitine newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Oleoilcarnitina (C18: Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Oleoilcarnitina (C18: |
| et-EE | Estonian (Estonia) | Oleoüülkarnitiin (C18: Synonyms: Aine kontsentratsioon Juhuslik Kvantitatiivne Veri |
| fr-CA | French (Canada) | Oléoylcarnitine (C18: |
| fr-FR | French (France) | Oléoylcarnitine (C18: |
| fr-BE | French (Belgium) | Oléoylcarnitine (C18: |
| it-IT | Italian (Italy) | Oleoilcarnitina (C18: Synonyms: Chimica Concentrazione di Sostanza Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | oleoylcarnitine (C18: |
| pt-BR | Portuguese (Brazil) | Oleoilcarnitina (C18: Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Олеоилкарнитин (C18: Synonyms: Количественный Кровь Кровь сухая капля Молярность; |
| tr-TR | Turkish (Turkey) | Oleoilkarnitin (C18: |
| zh-CN | Chinese (China) | 油酰肉碱 (C18: Synonyms: Ⅰ I 克分子浓度; |
Example Units
| Unit | Source |
|---|---|
| umol/L | Example UCUM Units |
53241-6 Stearoylcarnitine (C18) [Moles/volume] in DBS
Part Descriptions
LP29115-0 Stearoylcarnitine (C18)
Stearoylcarnitine is a primary marker for Carnitine palmitoyltransferase I deficiency, Carnitine acylcarnitine translocase deficiency, and Carnitine palmitoyltransferase II deficiency. Secondary marker for Long-chain L-3-Hydroxy dehydrogenase deficiency, Trifunctional protein deficiency, and Carnitine uptake defect.
Source: Regenstrief LOINC
Observation Required in Panel
Conditional
Type of Entry
Question expects user entry - requires response [Q]
Fully-Specified Name
- Component
- Stearoylcarnitine (C18)
- Property
- SCnc
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- Stearoylcarn DBS-sCnc
- Display Name
- C18 (DBS) [Moles/Vol]
- Consumer Name Alpha Get Info
- C18, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.24
- Last Updated
- Version 2.73
- Order vs. Observation
- Both
- Common Test Rank Get Info
- 19549
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 58092-8 | Acylcarnitine newborn screen panel |
| 53262-2 | Carnitine newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Estearoilcarnitina (C18): Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Estearoilcarnitina (C18): |
| et-EE | Estonian (Estonia) | Stearoüülkarnitiin (C18): Synonyms: Aine kontsentratsioon Juhuslik Kvantitatiivne Veri |
| fr-CA | French (Canada) | Stéaroylcarnitine (C18): |
| fr-FR | French (France) | Stéaroylcarnitine (C18): |
| fr-BE | French (Belgium) | Stéaroylcarnitine (C18): |
| it-IT | Italian (Italy) | Stearoilcarnitina (C18): Synonyms: Chimica Concentrazione di Sostanza Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | stearoylcarnitine (C18): |
| pt-BR | Portuguese (Brazil) | Estearoilcarnitina (C18): Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Стеароилкарнитин (C18): Synonyms: Количественный Кровь Кровь сухая капля Молярность; |
| tr-TR | Turkish (Turkey) | Stearoilkarnitin (C18): |
| zh-CN | Chinese (China) | 硬脂酰肉碱 (C18): Synonyms: 克分子浓度; |
Example Units
| Unit | Source |
|---|---|
| umol/L | Example UCUM Units |
53400-8 Stearoylcarnitine (C18)/Propionylcarnitine (C3) [Molar ratio] in DBS
Part Descriptions
LP29115-0 Stearoylcarnitine (C18)
Stearoylcarnitine is a primary marker for Carnitine palmitoyltransferase I deficiency, Carnitine acylcarnitine translocase deficiency, and Carnitine palmitoyltransferase II deficiency. Secondary marker for Long-chain L-3-Hydroxy dehydrogenase deficiency, Trifunctional protein deficiency, and Carnitine uptake defect.
Source: Regenstrief LOINC
LP70306-3 Propionylcarnitine (C3)
Propionylcarnitine is a primary marker for Propionic acidemia, Methylmalonic acidemia (mut), Methylmalonic acidemia (Cbl A, B), Methylmalonic aciduria and homocystinuria, and Succinyl-CoA ligase deficiency. Secondary marker for Multiple carboxylase deficiency.
Source: Regenstrief LOINC
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Stearoylcarnitine (C18)/Propionylcarnitine (C3)
- Property
- SRto
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- Stearoylcarn/C3 DBS-sRto
- Display Name
- C18/Propionylcarnitine (C3) (DBS) [Molar ratio]
- Consumer Name Alpha Get Info
- C18/Propionylcarnitine (C3), Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.24
- Last Updated
- Version 2.70
- Order vs. Observation
- Observation
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 58092-8 | Acylcarnitine newborn screen panel |
| 53262-2 | Carnitine newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Estearoilcarnitina (C18)/Propionilcarnitina (C39: Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Estearoilcarnitina (C18) / Propionilcarnitina (C3): |
| fr-CA | French (Canada) | Stéaroylcarnitine (C18)/Propionylcarnitine (C3): |
| fr-FR | French (France) | Stéaroylcarnitine (C18)/propionylcarnitine (C3): |
| fr-BE | French (Belgium) | Stéaroylcarnitine (C18)/Propionylcarnitine (C3): |
| it-IT | Italian (Italy) | Stearoilcarnitina (C18)/Propionilcarnitina (C3): Synonyms: Chimica Punto nel tempo (episodio) Rapporto di sostanza Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | stearoylcarnitine (C18)/propionylcarnitine (C3): |
| pt-BR | Portuguese (Brazil) | Estearoilcarnitina (C18)/Propionilcarnitina (C3): Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Стеароилкарнитин (C18)/Пропионилкарнитин (C3): Synonyms: Количественный Кровь Кровь сухая капля Мольная доля; |
| tr-TR | Turkish (Turkey) | Stearoilkarnitin (C18)/Propiyonilkarnitin (C3): Synonyms: SubsOranı |
| zh-CN | Chinese (China) | 硬脂酰肉碱 (C18)/丙酰肉碱 (C3): Synonyms: 丙酰肉碱（肉毒碱、 |
Example Units
| Unit | Source |
|---|---|
| {Ratio} | Example UCUM Units |
50109-8 3-Hydroxylinoleoylcarnitine (C18:2-OH) [Moles/volume] in DBS
Part Descriptions
LP19329-9 3-Hydroxylinoleoylcarnitine (C18:2-OH)
3-Hydroxylinoleoylcarnitine is a secondary marker for Long-chain L-3-Hydroxy dehydrogenase deficiency, and Trifunctional protein deficiency.
Source: Regenstrief LOINC
Observation Required in Panel
Conditional
Type of Entry
Question expects user entry - requires response [Q]
Fully-Specified Name
- Component
- 3-Hydroxylinoleoylcarnitine (C18:2-OH)
- Property
- SCnc
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- 3OH-Linoleoylcarn DBS-sCnc
- Display Name
- C18:2-OH (DBS) [Moles/Vol]
- Consumer Name Alpha Get Info
- C18:2-OH, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.22
- Last Updated
- Version 2.73
- Order vs. Observation
- Both
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 58092-8 | Acylcarnitine newborn screen panel |
| 53262-2 | Carnitine newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | 3-Hidroxilinoleoilcarnitina (C18: Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | 3-hidroxilinoleoilcarnitina (C18: |
| et-EE | Estonian (Estonia) | 3-hüdroksülinoleoüülkarnitiin (C18: Synonyms: Aine kontsentratsioon Juhuslik Kvantitatiivne Veri |
| fr-CA | French (Canada) | 3-hydroxylinoleoylcarnitine (C18: |
| fr-FR | French (France) | 3-hydroxylinoléoylcarnitine (C18: |
| fr-BE | French (Belgium) | 3-Hydroxylinoleoylcarnitine (C18: |
| it-IT | Italian (Italy) | 3-Idrossilinoleoilcarnitina (C18: Synonyms: Chimica Concentrazione di Sostanza Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | 3-hydroxylinoleoylcarnitine (C18: |
| pt-BR | Portuguese (Brazil) | 3-Hidroxilinoleoilcarnitina (C18: Synonyms: ; |
| ru-RU | Russian (Russian Federation) | 3-Гидроксилинолеоилкарнитин (C18: Synonyms: Количественный Кровь Кровь сухая капля Молярность; |
| tr-TR | Turkish (Turkey) | 3-Hidroksilinoleoilkarnitin (C18: |
| zh-CN | Chinese (China) | 3-羟基亚油酰肉碱 (C18: Synonyms: Ⅱ 3-羟基亚油酰肉碱（肉毒碱、 |
Example Units
| Unit | Source |
|---|---|
| umol/L | Example UCUM Units |
50113-0 3-Hydroxyoleoylcarnitine (C18:1-OH) [Moles/volume] in DBS
Part Descriptions
LP19330-7 3-Hydroxyoleoylcarnitine (C18:1-OH)
3-Hydroxyoleoylcarnitine is a primary marker for Long-chain L-3-Hydroxy dehydrogenase deficiency, and Trifunctional protein deficiency.
Source: Regenstrief LOINC
Observation Required in Panel
Conditional
Type of Entry
Question expects user entry - requires response [Q]
Fully-Specified Name
- Component
- 3-Hydroxyoleoylcarnitine (C18:1-OH)
- Property
- SCnc
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- 3OH-Oleoylcarn DBS-sCnc
- Display Name
- C18:1-OH (DBS) [Moles/Vol]
- Consumer Name Alpha Get Info
- C18:1-OH, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.22
- Last Updated
- Version 2.73
- Order vs. Observation
- Both
- Common Test Rank Get Info
- 17953
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 58092-8 | Acylcarnitine newborn screen panel |
| 53262-2 | Carnitine newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | 3-Hidroxioleoilcarnitina (C18: Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | 3-hidroxioleoilcarnitina (C18: |
| et-EE | Estonian (Estonia) | 3-hüdroksüoleüülkarnitiin (C18: Synonyms: Aine kontsentratsioon Juhuslik Kvantitatiivne Veri |
| fr-CA | French (Canada) | 3-hydroxyoléoylcarnitine (C18: |
| fr-FR | French (France) | 3-hydroxyoléoylcarnitine (C18: |
| fr-BE | French (Belgium) | 3-hydroxyoléoylcarnitine (C18: |
| it-IT | Italian (Italy) | 3-Idrossioleoilcarnitina (C18: Synonyms: Chimica Concentrazione di Sostanza Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | 3-hydroxyoleoylcarnitine (C18: |
| pt-BR | Portuguese (Brazil) | 3-Hidroxioleoilcarnitina (C18: Synonyms: ; |
| ru-RU | Russian (Russian Federation) | 3-Гидроксиолеоилкарнитин (C18: Synonyms: Количественный Кровь Кровь сухая капля Молярность; |
| tr-TR | Turkish (Turkey) | 3-Hidroksioleoilkarnitin (C18: |
| zh-CN | Chinese (China) | 3-羟基油酰肉碱 (C18: Synonyms: Ⅰ 3-羟基油酰肉碱（肉毒碱、 |
Example Units
| Unit | Source |
|---|---|
| umol/L | Example UCUM Units |
50132-0 3-Hydroxystearoylcarnitine (C18-OH) [Moles/volume] in DBS
Part Descriptions
LP33294-7 3-Hydroxystearoylcarnitine (C18-OH)
3-Hydroxystearoylcarnitine is a primary marker for Long-chain L-3-Hydroxy dehydrogenase deficiency, and Trifunctional protein deficiency.
Source: Regenstrief LOINC
Observation Required in Panel
Conditional
Type of Entry
Question expects user entry - requires response [Q]
Fully-Specified Name
- Component
- 3-Hydroxystearoylcarnitine (C18-OH)
- Property
- SCnc
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- 3OH-stearoylcarn DBS-sCnc
- Display Name
- C18-OH (DBS) [Moles/Vol]
- Consumer Name Alpha Get Info
- C18-OH, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.22
- Last Updated
- Version 2.73
- Order vs. Observation
- Both
- Common Test Rank Get Info
- 17969
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 58092-8 | Acylcarnitine newborn screen panel |
| 53262-2 | Carnitine newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | 3-Hidroxiestearoilcarnitina (C18-OH): Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | 3-hidroxiesteaaroilcarnitina (C18-OH): |
| et-EE | Estonian (Estonia) | 3-hüdroksüstearoüülkarnitiin (C18-OH): Synonyms: Aine kontsentratsioon Juhuslik Kvantitatiivne Veri |
| fr-CA | French (Canada) | 3-hydroxystéaroylcarnitine: |
| fr-FR | French (France) | 3-hydroxystéaroylcarnitine (C18-OH): |
| fr-BE | French (Belgium) | 3-hydroxystéaroylcarnitine (C18-OH): |
| it-IT | Italian (Italy) | 3-Idrossistearoilcarnitina (C18-OH): Synonyms: Chimica Concentrazione di Sostanza Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | 3-hydroxystearoylcarnitine (C18-OH): |
| pt-BR | Portuguese (Brazil) | 3-Hidroxiestearoilcarnitina (C18-OH)/: Synonyms: ; |
| ru-RU | Russian (Russian Federation) | 3-Гидроксистеароилкарнитин (C18-OH): Synonyms: Количественный Кровь Кровь сухая капля Молярность; |
| tr-TR | Turkish (Turkey) | 3-Hidroksistearoilkarnitin (C18-OH): |
| zh-CN | Chinese (China) | 3-羟基硬脂酰肉碱 (C18-OH): Synonyms: 3-羟基硬脂酰肉碱（肉毒碱、 |
Example Units
| Unit | Source |
|---|---|
| umol/L | Example UCUM Units |
53836-3 ABCD1 gene targeted mutation analysis in Blood or Tissue by Molecular genetics method
Part Descriptions
LP71403-7 ABCD1 gene
The ABCD1 gene (ATP-binding cassette, sub-family D (ALD), member 1) [HGNC Gene ID:61] is located on chromosome Xq28. The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the ALD subfamily, which is involved in peroxisomal import of fatty acids and/or fatty acyl-CoAs in the organelle. All known peroxisomal ABC transporters are half transporters which require a partner half transporter molecule to form a functional homodimeric or heterodimeric transporter. This peroxisomal membrane protein is likely involved in the peroxisomal transport or catabolism of very long chain fatty acids. Defects in this gene have been identified as the underlying cause of adrenoleukodystrophy, an X-chromosome recessively inherited demyelinating disorder of the nervous system. [provided by RefSeq, Jul 2008] [NCBI Gene ID:215]
Source: National Center for Biotechnology Information (NCBI) Gene
Fully-Specified Name
- Component
- ABCD1 gene targeted mutation analysis
- Property
- Find
- Time
- Pt
- System
- Bld/Tiss
- Scale
- Doc
- Method
- Molgen
Additional Names
- Short Name
- ABCD1 gene Mut Anl Bld/T
- Display Name
- ABCD1 gene targeted mutation analysis Molgen Doc (Bld/Tiss)
- Consumer Name Alpha Get Info
- ABCD1 gene targeted mutation analysis, Blood or tissue specimen
Basic Attributes
- Class
- MOLPATH.MUT
- Type
- Laboratory
- First Released
- Version 2.26
- Last Updated
- Version 2.66
- Change Reason
- Based on LOINC Committee review (June 2016), "targeted" was added to the Component to clarify that this test is looking for a specific set of mutations as described in the LOINC User Guide under the Molecular Genetics section.; Based on LOINC Committee review (June 2019), updated the Property from "Prid" to "Find" and Scale from "Nar" to "Doc" to align with the current LOINC model for naming collections of information reported in narrative and/or structured formats.
- Order vs. Observation
- Both
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 58092-8 | Acylcarnitine newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Gen ABCD1 Analisis de mutaciones: |
| es-MX | Spanish (Mexico) | Análisis de mutaciones dirigidas al gen ABCD1: |
| fr-FR | French (France) | ABCD1 gène mutation cible trouvée: |
| it-IT | Italian (Italy) | ABCD1, gene analisi di mutazione mirata: Synonyms: Gene ABCD1 Genetica molecolare Mutazione genica Osservazione Patologia molecolare Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & |
| nl-NL | Dutch (Netherlands) | ABCD1-gen doelgerichte mutatie-analyse: Synonyms: ABCD1 gen molgen targeted |
| pt-BR | Portuguese (Brazil) | ABCD1 análise de mutação genética: Synonyms: AcC42; |
| ru-RU | Russian (Russian Federation) | ABCD1 ген исследование на мутацию: Synonyms: Документ Кровь Кровь или Ткань Ткань и мазки Точка во времени; |
| tr-TR | Turkish (Turkey) | ABCD1 geni Mutasyon analizi: |
| zh-CN | Chinese (China) | ABCD1 基因 突变分析: Synonyms: ATP结合转运子超家族成员D1基因; |
57085-3 Organic acid newborn screen panel
Term Description
Newborn screening dried blood spot analysis by tandem mass spectrometry (MS/MS) requires pre-processing the specimen with one of two alternative reagent methods referred to as derivatized and non-derivatized (or underivatized) methods. The methods are similar and nearly all analytes and ratios are identical with the limited number of exceptions noted in the description of the LOINC codes. Some labs choose to use the non-derivatized method because it may be faster or less expensive for their operations. There are no analytes which would be interpreted differently based on the method used to process the specimen so there is no need for different LOINC codes for the same compounds based on the reagents. In a few cases, a different LOINC code is used for the derivatized or non-derivatized tandem mass spectrometry (MS/MS) method because based on the reagents used in processing, different analytes are measured or different sets of analytes become isobaric, which means that they cannot be distinguished on the MS/MS because they have the same molecular weight after reagent processing.
Source: Regenstrief LOINC
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Organic acid newborn screen panel
- Property
- -
- Time
- Pt
- System
- Bld.dot
- Scale
- -
- Method
Additional Names
- Short Name
- OA NB scn pnl DBS
- Display Name
- Organic acid NBS panel (DBS)
- Consumer Name Alpha Get Info
- Organic Acid NBS Panel, Dried blood spot
Basic Attributes
- Class
- PANEL.CHEM
- Type
- Laboratory
- First Released
- Version 2.29
- Last Updated
- Version 2.77
- Order vs. Observation
- Order
- Panel Type
- Panel
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 58092-8 | Acylcarnitine newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Panel de cribado de ácidos orgánicos en el recién nacido: |
| es-MX | Spanish (Mexico) | Panel de monitoreo de ácido orgánico para recién nacidos: |
| fr-FR | French (France) | Acides organiques dépistage néonatal panel: |
| it-IT | Italian (Italy) | Acidi organici, panel screening neonatale: Synonyms: Chimica Panel screening neonatale degli acidi organici Punto nel tempo (episodio) Sangue Set di prescrizione chimica Spot sangue secco |
| nl-NL | Dutch (Netherlands) | organische zuren pasgeborene screening panel: |
| pt-BR | Portuguese (Brazil) | Ácidos Orgânicos, triagem neonatal, painel: Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Органические кислоты новорождённый скрин панель: Synonyms: Кровь Кровь сухая капля Точка во времени; |
| zh-CN | Chinese (China) | 有机酸新生儿筛查组套: Synonyms: 全血斑点(滤纸); |
46744-9 Organic acidemias newborn screen interpretation
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Organic acidemias
- Property
- Imp
- Time
- Pt
- System
- Bld.dot
- Scale
- Nom
- Method
Additional Names
- Short Name
- OA DBS-Imp
- Display Name
- Organic acidemias (DBS) [Interp]
- Consumer Name Alpha Get Info
- Organic acidemias, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.19
- Last Updated
- Version 2.73
- Change Reason
- Changed answer list from "Normative" to "Preferred" to fit the current LOINC model.
- Order vs. Observation
- Observation
- Common Test Rank Get Info
- 1324
Preferred Answer List LL840-0
| Answer | Code | Score | Answer ID |
|---|---|---|---|
| In range | LA18592-8 | ||
| Borderline | LA4259-3 | ||
| Indeterminate Copyright http://snomed.info/sct ID:82334004 Indeterminate (qualifier value) | LA11884-6 | ||
| Out of range | LA18593-6 | ||
| Out of range requiring further dried blood spot testing for at least one condition | LA12430-7 | ||
| Out of range requiring immediate referral | LA25817-0 | ||
| Out of range requiring immediate second-tier testing for at least one condition | LA12431-5 | ||
| Out of range requiring deferred follow-up for at least one condition | LA18594-4 | ||
| One or more tests pending | LA16204-2 | ||
| Specimen unsatisfactory for at least one condition | LA16205-9 |
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 58092-8 | Acylcarnitine newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Acidemias orgánicas: |
| es-MX | Spanish (Mexico) | Acidemias orgánicas: |
| fr-CA | French (Canada) | Acidémies organiques: |
| fr-FR | French (France) | Acidémie organiques: |
| fr-BE | French (Belgium) | Acidémies organiques: |
| it-IT | Italian (Italy) | Acidemie organiche: Synonyms: Chimica Impressione/interpretazione di studio Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | organische acidemieën: |
| pt-BR | Portuguese (Brazil) | Acidemias orgânicas: Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Органические ацидемии: Synonyms: Впечатление/интерпретация исследования Кровь Кровь сухая капля Номинальный; |
| tr-TR | Turkish (Turkey) | Organik asidemiler: |
| zh-CN | Chinese (China) | 有机酸血症: Synonyms: OA; |
Third Party Copyright
This material includes SNOMED Clinical Terms® (SNOMED CT®) which is used by permission of the International Health Terminology Standards Development Organisation (IHTSDO) under license. All rights reserved. SNOMED CT® was originally created by The College of American Pathologists. "SNOMED" and "SNOMED CT" are registered trademarks of the IHTSDO.
This material includes content from the US Edition to SNOMED CT, which is developed and maintained by the U.S. National Library of Medicine and is available to authorized UMLS Metathesaurus Licensees from the UTS Downloads site at https://uts.nlm.nih.gov.
Use of SNOMED CT content is subject to the terms and conditions set forth in the SNOMED CT Affiliate License Agreement. It is the responsibility of those implementing this product to ensure they are appropriately licensed and for more information on the license, including how to register as an Affiliate Licensee, please refer to http://www.snomed.org/snomed-ct/get-snomed-ct or info@snomed.org<mailto:info@snomed.org>. This may incur a fee in SNOMED International non-Member countries.
57791-6 Organic acidemia conditions suspected [Identifier] in DBS
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Organic acidemia conditions suspected
- Property
- Prid
- Time
- Pt
- System
- Bld.dot
- Scale
- Nom
- Method
Additional Names
- Short Name
- OA conditions suspected DBS
- Display Name
- Organic acidemia conditions suspected Nom (DBS)
- Consumer Name Alpha Get Info
- Organic acidemia conditions suspected, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.29
- Last Updated
- Version 2.61
- Change Reason
- Changed answer list from "Normative" to "Preferred" to fit the current LOINC model.
- Order vs. Observation
- Observation
Preferred Answer List LL839-2
| Answer | Code | Score | Answer ID |
|---|---|---|---|
| None Copyright http://snomed.info/sct ID:260413007 None (qualifier value) | LA137-2 | ||
| 2M3HBA or BKT-2 | LA12577-5 | ||
| Glutaric acidemia type I Copyright http://snomed.info/sct ID:76175005 Glutaric aciduria, type 1 (disorder) | LA12493-5 | ||
| IVA or 2MBG or GA-2 or EMA | LA12578-3 | ||
| Malonic acidemia Copyright http://snomed.info/sct ID:124594007 Deficiency of malonyl-coenzyme A decarboxylase (disorder) | LA12508-0 | ||
| PROP or CBL A or CBL B or MUT or CBL C or MCD | LA12579-1 | ||
| 2-Methyl-3-hydroxybutyric aciduria Copyright http://snomed.info/sct ID:791000124107 2-methyl-3-hydroxybutyric aciduria (disorder) | 2M3HBA | LA12464-6 | |
| 2-Methylbutyrylglycinuria Copyright http://snomed.info/sct ID:445596006 2-methylbutyrylglycinuria (disorder) | LA12465-3 | ||
| 3-Hydroxy-3-methylglutaric aciduria Copyright http://snomed.info/sct ID:410059004 Hydroxymethylglutaric aciduria (disorder) | LA12499-2 | ||
| 3-Methylcrotonyl-CoA carboxylase deficiency Copyright http://snomed.info/sct ID:13144005 Methylcrotonyl-coenzyme A carboxylase deficiency (disorder) | LA12466-1 | ||
| Beta-ketothiolase deficiency Copyright http://snomed.info/sct ID:237953006 Mitochondrial 2-methylacetoacetyl-CoA thiolase deficiency - potassium stimulated (disorder) | LA12474-5 | ||
| Ethylmalonic encephalopathy Copyright http://snomed.info/sct ID:723307008 Ethylmalonic encephalopathy (disorder) | LA12491-9 | ||
| Formiminoglutamic acidemia Copyright http://snomed.info/sct ID:59761008 Glutamate formiminotransferase deficiency (disorder) | LA12492-7 | ||
| Isobutyrylglycinuria Copyright http://snomed.info/sct ID:445571008 Isobutyrylglycinuria (disorder) | LA12504-9 | ||
| Isovaleric acidemia Copyright http://snomed.info/sct ID:87827003 Isovaleryl-coenzyme A dehydrogenase deficiency (disorder) | LA12505-6 | ||
| 3-Methylcrotonyl-CoA carboxylase deficiency (maternal) Copyright http://snomed.info/sct ID:206001006 Fetal or neonatal effect of maternal problem unrelated to pregnancy (disorder) | LA12467-9 | ||
| Cobalamin A disease Copyright http://snomed.info/sct ID:73843004 Cobalamin A disease (disorder) | LA12476-0 | ||
| Cobalamin B disease Copyright http://snomed.info/sct ID:82245003 Cobalamin B disease (disorder) | LA12477-8 | ||
| Methylmalonic acidemia Copyright http://snomed.info/sct ID:124680001 Deficiency of methylmalonyl-coenzyme A mutase (disorder) | LA12515-5 | ||
| Cobalamin C disease Copyright http://snomed.info/sct ID:74653006 Cobalamin C disease (disorder) | LA12478-6 | ||
| Cobalamin D disease Copyright http://snomed.info/sct ID:31220004 Cobalamin D disease (disorder) | LA12479-4 | ||
| Holoocarboxylase synthase deficiency Copyright http://snomed.info/sct ID:360369003 Holocarboxylase synthase deficiency (disorder) | LA12510-6 | ||
| Primary lactic acidemia Copyright http://snomed.info/sct ID:190882007 Lactic acidemia (disorder) | LA12506-4 | ||
| Propionic acidemia Copyright http://snomed.info/sct ID:69080001 Propionic acidemia (disorder) | LA12523-9 | ||
| Succinyl-CoA ligase deficiency Copyright http://snomed.info/sct ID:445275003 Deficiency of succinate-coenzyme A ligase (disorder) | LA12526-2 | ||
| 3-MCC or 3-MCC (mat) or 3MGA or BKT or HMG or MCD or BIO | LA12915-7 | ||
| GA-1 or GA-2 | LA12917-3 |
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 58092-8 | Acylcarnitine newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Sospecha de estado de acidemia orgánica: |
| es-MX | Spanish (Mexico) | Sospecha de condiciones de acidemia orgánica: |
| fr-FR | French (France) | Acidémie organiques suspectées: |
| it-IT | Italian (Italy) | Acidemia organica, condizioni sospette: Synonyms: Chimica Condizioni sospette di acidemia organica Presenza o Identità Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | organische acidemie aandoeningen vermoed: |
| pt-BR | Portuguese (Brazil) | Condições acidemia orgânica suspeita: Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Органическая ацидемия состояния заподозрены: Synonyms: Кровь Кровь сухая капля Номинальный; |
| tr-TR | Turkish (Turkey) | Organik asidemi koşulları şüphelenilen: |
| zh-CN | Chinese (China) | 所怀疑的有机酸血症情况: Synonyms: 全血斑点(滤纸); |
Third Party Copyright
This material includes SNOMED Clinical Terms® (SNOMED CT®) which is used by permission of the International Health Terminology Standards Development Organisation (IHTSDO) under license. All rights reserved. SNOMED CT® was originally created by The College of American Pathologists. "SNOMED" and "SNOMED CT" are registered trademarks of the IHTSDO.
This material includes content from the US Edition to SNOMED CT, which is developed and maintained by the U.S. National Library of Medicine and is available to authorized UMLS Metathesaurus Licensees from the UTS Downloads site at https://uts.nlm.nih.gov.
Use of SNOMED CT content is subject to the terms and conditions set forth in the SNOMED CT Affiliate License Agreement. It is the responsibility of those implementing this product to ensure they are appropriately licensed and for more information on the license, including how to register as an Affiliate Licensee, please refer to http://www.snomed.org/snomed-ct/get-snomed-ct or info@snomed.org<mailto:info@snomed.org>. This may incur a fee in SNOMED International non-Member countries.
57708-0 Organic acidemias defects newborn screening comment-discussion
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Organic acidemias defects newborn screening comment-discussion
- Property
- Txt
- Time
- Pt
- System
- Bld.dot
- Scale
- Nar
- Method
Additional Names
- Short Name
- OA defects NBS comment
- Display Name
- Organic acidemias defects newborn screening comment-discussion Nar (DBS)
- Consumer Name Alpha Get Info
- Organic acidemias defects newborn screening comment-discussion, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.29
- Last Updated
- Version 2.42
- Order vs. Observation
- Observation
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 58092-8 | Acylcarnitine newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Defecto de acidemias orgánicas screnning de recién nacidos comentario-discusión: |
| es-MX | Spanish (Mexico) | Acidemias orgánicas defectos cribado neonatal comentario-discusión: |
| fr-FR | French (France) | Acidémie organiques déficit dépistage néonatal (commentaire-discussion): |
| it-IT | Italian (Italy) | Acidemie organiche, difetti, screening neonatale, commenti-discussione: Synonyms: Chimica Commento/discussione di screening neonatale per difetti di acidemia organica Difetti di acidemie organiche Punto nel tempo (episodio) Sangue Spot sangue secco Testo |
| nl-NL | Dutch (Netherlands) | organische acidemie afwijking screening van pasgeborene commentaar-discussie: |
| pt-BR | Portuguese (Brazil) | Defeitos de acidemias orgânicas na triagem neonatal comentários-discussão: Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Органическая ацидемия дефекты новорожденный скрининг комментарий-дискуссия: Synonyms: Кровь Кровь сухая капля Описательный Текст Точка во времени; |
| tr-TR | Turkish (Turkey) | Organik asidemi eksiklikleri yenidoğan tarama öneri-tartışma: |
| zh-CN | Chinese (China) | 有机酸血症缺陷 新生儿筛查注释-讨论: Synonyms: Asympt OA; |
50157-7 Acetylcarnitine (C2) [Moles/volume] in DBS
Part Descriptions
LP19301-8 Acetylcarnitine (C2)
An acetic acid ester of CARNITINE that facilitates movement of ACETYL COA into the matrices of mammalian MITOCHONDRIA during the oxidation of FATTY ACIDS.
Source: National Library of Medicine, MeSH 2006
LP19301-8 Acetylcarnitine (C2)
Acetylcarnitine is a primary marker for Carnitine uptake defect. Secondary marker for Short-chain L-3-hydroxy acyl-CoA dehydrogenase deficiency, Maternal carnitine uptake defect, Maternal 3-Methylcrotonyl-CoA carboxylase deficiency, Formiminoglutamic acidemia, and Succinyl-CoA ligase deficiency.
Source: Regenstrief LOINC
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Acetylcarnitine (C2)
- Property
- SCnc
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- Acetylcarn DBS-sCnc
- Display Name
- C2 (DBS) [Moles/Vol]
- Consumer Name Alpha Get Info
- C2, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.22
- Last Updated
- Version 2.73
- Order vs. Observation
- Both
- Common Test Rank Get Info
- 17972
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 58092-8 | Acylcarnitine newborn screen panel |
| 53262-2 | Carnitine newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Acetilcarnitina (C2): Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Acetilcarnitina (C2): |
| et-EE | Estonian (Estonia) | Atsetüülkarnitiin (C2): Synonyms: Aine kontsentratsioon Juhuslik Kvantitatiivne Veri |
| fr-CA | French (Canada) | Acétylcarnitine (C2): |
| fr-FR | French (France) | Acétylcarnitine (C2): |
| fr-BE | French (Belgium) | Acétylcarnitine (C2): |
| it-IT | Italian (Italy) | Acetilcarnitina (C2): Synonyms: Chimica Concentrazione di Sostanza Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | acetylcarnitine (C2): |
| pt-BR | Portuguese (Brazil) | Acetilcarnitina (C2): Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Ацетилкарнитин (C2): Synonyms: Количественный Кровь Кровь сухая капля Молярность; |
| tr-TR | Turkish (Turkey) | Asetilkarnitin (C2): |
| zh-CN | Chinese (China) | 乙酰肉碱 (C2): Synonyms: 乙酰肉碱（肉毒碱、 |
Example Units
| Unit | Source |
|---|---|
| umol/L | Example UCUM Units |
53237-4 Acrylylcarnitine (C3:1) [Moles/volume] in DBS
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Acrylylcarnitine (C3:1)
- Property
- SCnc
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- Acrylylcarn DBS-sCnc
- Display Name
- C3:1 (DBS) [Moles/Vol]
- Consumer Name Alpha Get Info
- C3:1, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.24
- Last Updated
- Version 2.70
- Order vs. Observation
- Both
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 58092-8 | Acylcarnitine newborn screen panel |
| 53262-2 | Carnitine newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Acrililcarnitina (C3: Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Acrililcarnitina (C3: |
| et-EE | Estonian (Estonia) | Akrülüülkarnitiin (C3: Synonyms: Aine kontsentratsioon Juhuslik Kvantitatiivne Veri |
| fr-CA | French (Canada) | Acrylylcarnitine (C3: |
| fr-FR | French (France) | Acrylylcarnitine (C3: |
| fr-BE | French (Belgium) | Acrylylcarnitine (C3: |
| it-IT | Italian (Italy) | Acrililcarnitina (C3: Synonyms: Chimica Concentrazione di Sostanza Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | acrylylcarnitine (C3: |
| pt-BR | Portuguese (Brazil) | Acrililcarnitina (C3: Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Акрилилкарнитин (C3: Synonyms: Количественный Кровь Кровь сухая капля Молярность; |
| tr-TR | Turkish (Turkey) | Akrililkarnitin (C3: |
| zh-CN | Chinese (China) | 丙烯酰肉碱 (C3: Synonyms: Ⅰ I 丙烯酰肉碱（肉毒碱、 |
Example Units
| Unit | Source |
|---|---|
| umol/L | Example UCUM Units |
53160-8 Propionylcarnitine (C3) [Moles/volume] in DBS
Part Descriptions
LP19303-4 Propionylcarnitine (C3)
Propionylcarnitine is a primary marker for Propionic acidemia, Methylmalonic acidemia (mut), Methylmalonic acidemia (Cbl A, B), Methylmalonic aciduria and homocystinuria, and Succinyl-CoA ligase deficiency. Secondary marker for Multiple carboxylase deficiency.
Source: Regenstrief LOINC
Observation Required in Panel
Conditional
Type of Entry
Question expects user entry - requires response [Q]
Fully-Specified Name
- Component
- Propionylcarnitine (C3)
- Property
- SCnc
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- Propionylcarn DBS-sCnc
- Display Name
- C3 (DBS) [Moles/Vol]
- Consumer Name Alpha Get Info
- C3, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.24
- Last Updated
- Version 2.73
- Order vs. Observation
- Both
- Common Test Rank Get Info
- 18808
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 58092-8 | Acylcarnitine newborn screen panel |
| 53262-2 | Carnitine newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Propionilcarnitina (C3): Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Propionilcarnitina (C3): |
| et-EE | Estonian (Estonia) | Propionüülkarnitiin (C3): Synonyms: Aine kontsentratsioon Juhuslik Kvantitatiivne Veri |
| fr-CA | French (Canada) | Propionylcarnitine (C3): |
| fr-FR | French (France) | Propionylcarnitine (C3): |
| fr-BE | French (Belgium) | Propionylcarnitine (C3): |
| it-IT | Italian (Italy) | Propionilcarnitina (C3): Synonyms: Chimica Concentrazione di Sostanza Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | propionylcarnitine (C3): |
| pt-BR | Portuguese (Brazil) | Propionilcarnitina (C3): Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Пропионилкарнитин (C3): Synonyms: Количественный Кровь Кровь сухая капля Молярность; |
| tr-TR | Turkish (Turkey) | Propiyonilkarnitin (C3): |
| zh-CN | Chinese (China) | 丙酰肉碱 (C3): Synonyms: 丙酰肉碱（肉毒碱、 |
Example Units
| Unit | Source |
|---|---|
| umol/L | Example UCUM Units |
53161-6 Propionylcarnitine (C3)/Methionine [Molar ratio] in DBS
Term Description
Propionylcarnitine/Methionine is a secondary marker for Methylmalonic aciduria and homocystinuria.
Source: Regenstrief LOINC
Propionylcarnitine/Palmitoylcarnitine is a primary marker for Secondary marker for Propionic acidemia, Methylmalonic acidemia (mut), Methylmalonic acidemia (Cbl A, B), Methylmalonic aciduria and homocystinuria, Succinyl-CoA ligase deficiency, and Multiple carboxylase deficiency.
Source: Regenstrief LOINC
Part Descriptions
LP19303-4 Propionylcarnitine (C3)
Propionylcarnitine is a primary marker for Propionic acidemia, Methylmalonic acidemia (mut), Methylmalonic acidemia (Cbl A, B), Methylmalonic aciduria and homocystinuria, and Succinyl-CoA ligase deficiency. Secondary marker for Multiple carboxylase deficiency.
Source: Regenstrief LOINC
LP70164-6 Methionine
Methionine is an essential nonpolar amino acid, and a lipotropic. Methionine and cysteine are the only sulfur-containing proteinogenic amino acids. The methionine derivative S-adenosyl methionine (SAM) serves as a methyl donor. Methionine plays a role in cysteine, carnitine and taurine synthesis by the transsulfuration pathway, lecithin production, the synthesis of phosphatidylcholine and other phospholipids. Improper conversion of methionine can lead to atherosclerosis. Methionine, a chelating agent, is one of only two amino acids encoded by a single codon (AUG) in the standard genetic code (tryptophan, encoded by UGG, is the other). The codon AUG is also significant, in that it carries the Start message for a ribosome to begin protein translation from mRNA. As a consequence, methionine is incorporated into the N-terminal position of all proteins in eukaryotes and archaea during translation, although it is usually removed by post-translational modification.
Copyright Text is available under the Creative Commons Attribution/Share-Alike License. See http://creativecommons.org/licenses/by-sa/3.0/ for details.
Source: Wikipedia, Methionine (Wikipedia)
Observation Required in Panel
Conditional
Type of Entry
Question expects user entry - requires response [Q]
Fully-Specified Name
- Component
- Propionylcarnitine (C3)/Methionine
- Property
- SRto
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- Propionylcarn/Methionine DBS-sRto
- Display Name
- C3/Methionine (DBS) [Molar ratio]
- Consumer Name Alpha Get Info
- C3/Methionine, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.24
- Last Updated
- Version 2.61
- Order vs. Observation
- Both
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 58092-8 | Acylcarnitine newborn screen panel |
| 53262-2 | Carnitine newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Propionilcarnitina (C3)/Metionina: Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Propionilcarnitina (C3) / Metionina: |
| fr-CA | French (Canada) | Propionylcarnitine (C3)/Méthionine: |
| fr-FR | French (France) | Propionylcarnitine (C3)/méthionine: |
| fr-BE | French (Belgium) | Propionylcarnitine (C3)/Méthionine: |
| it-IT | Italian (Italy) | Propionilcarnitina (C3)/Metionina: Synonyms: Chimica Punto nel tempo (episodio) Rapporto di sostanza Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | propionylcarnitine (C3)/methionine: |
| pt-BR | Portuguese (Brazil) | Propionilcarnitina (C3)/Metionina: Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Пропионилкарнитин (C3)/Метионин: Synonyms: Количественный Кровь Кровь сухая капля Мольная доля; |
| tr-TR | Turkish (Turkey) | Propiyonilkarnitin (C3)/Metiyonin: Synonyms: SubsOranı |
| zh-CN | Chinese (China) | 丙酰肉碱 (C3)/蛋氨酸: Synonyms: Met; |
Example Units
| Unit | Source |
|---|---|
| {Ratio} | Example UCUM Units |
53162-4 Propionylcarnitine (C3)/Carnitine.free (C0) [Molar ratio] in DBS
Term Description
Propionylcarnitine/Carnitine.free is a secondary marker for Propionic acidemia, Methylmalonic acidemia (mut), Methylmalonic acidemia (Cbl A, B), Methylmalonic aciduria and homocystinuria, Succinyl-CoA ligase deficiency, and Multiple carboxylase deficiency.
Source: Regenstrief LOINC
Part Descriptions
LP19303-4 Propionylcarnitine (C3)
Propionylcarnitine is a primary marker for Propionic acidemia, Methylmalonic acidemia (mut), Methylmalonic acidemia (Cbl A, B), Methylmalonic aciduria and homocystinuria, and Succinyl-CoA ligase deficiency. Secondary marker for Multiple carboxylase deficiency.
Source: Regenstrief LOINC
LP32015-7 Carnitine.free (C0)
Carnitine.free is a primary marker for carnitine uptake defect, propionic acidemia, maternal carnitine uptake defect, carnitine palmitoyltransferase I deficiency and primary lactic acidemia (various types). It is also a secondary marker for maternal glutaric acidemia type I.
Source: Regenstrief LOINC
Observation Required in Panel
Conditional
Type of Entry
Question expects user entry - requires response [Q]
Fully-Specified Name
- Component
- Propionylcarnitine (C3)/Carnitine.free (C0)
- Property
- SRto
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- Propionylcarn/C0 DBS-sRto
- Display Name
- C3/Carnitine.free (C0) (DBS) [Molar ratio]
- Consumer Name Alpha Get Info
- C3/Free Carnitine (C0), Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.24
- Last Updated
- Version 2.73
- Order vs. Observation
- Both
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 58092-8 | Acylcarnitine newborn screen panel |
| 53262-2 | Carnitine newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Propionilcarnitina (C3)/Carnitina libre: Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Propionilcarnitina (C3) / Carnitina.libre (C0): |
| fr-CA | French (Canada) | Propionylcarnitine (C3)/Carnitine.libre (C0): |
| fr-FR | French (France) | Propionylcarnitine (C3)/carnitine libre (C0): |
| fr-BE | French (Belgium) | Propionylcarnitine (C3)/Carnitine.libre (C0): |
| it-IT | Italian (Italy) | Propionilcarnitina (C3)/Carnitina.libera (C0): Synonyms: Carnitina libera (C0) Chimica Punto nel tempo (episodio) Rapporto di sostanza Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | propionylcarnitine (C3)/carnitine.vrij (C0): |
| pt-BR | Portuguese (Brazil) | Propionilcarnitina (C3)/Carnitina.livre (C0): Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Пропионилкарнитин (C3)/Карнитин.свободный(С0): Synonyms: Количественный Кровь Кровь сухая капля Мольная доля; |
| tr-TR | Turkish (Turkey) | Propiyonilkarnitin (C3)/Karnitin.serb (C0): Synonyms: SubsOranı |
| zh-CN | Chinese (China) | 丙酰肉碱 (C3)/肉碱.游离型 (C0): Synonyms: 丙酰肉碱（肉毒碱、 |
Example Units
| Unit | Source |
|---|---|
| {Ratio} | Example UCUM Units |
53163-2 Propionylcarnitine (C3)/Acetylcarnitine (C2) [Molar ratio] in DBS
Term Description
Propionylcarnitine/Acetylcarnitine is a primary marker for Propionic acidemia, Methylmalonic acidemia (Cbl A, B), Multiple carboxylase deficiency, Methylmalonic aciduria and homocystinuria. Secondary marker for Succinyl-CoA ligase deficiency.
Source: Regenstrief LOINC
Part Descriptions
LP19303-4 Propionylcarnitine (C3)
Propionylcarnitine is a primary marker for Propionic acidemia, Methylmalonic acidemia (mut), Methylmalonic acidemia (Cbl A, B), Methylmalonic aciduria and homocystinuria, and Succinyl-CoA ligase deficiency. Secondary marker for Multiple carboxylase deficiency.
Source: Regenstrief LOINC
LP70165-3 Acetylcarnitine (C2)
Acetyl-L-carnitine or ALCAR, is an acetylated form of L-carnitine. ALCAR has been claimed to be superior to normal L-carnitine in terms of bioavailability. However, at least one study has suggested that the acetylated form may have a lower oral bioavailability.
Copyright Text is available under the Creative Commons Attribution/Share-Alike License. See http://creativecommons.org/licenses/by-sa/3.0/ for details.
Source: Wikipedia, Acetylcarnitine
Observation Required in Panel
Conditional
Type of Entry
Question expects user entry - requires response [Q]
Fully-Specified Name
- Component
- Propionylcarnitine (C3)/Acetylcarnitine (C2)
- Property
- SRto
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- Propionylcarn/C2 DBS-sRto
- Display Name
- C3/Acetylcarnitine (C2) (DBS) [Molar ratio]
- Consumer Name Alpha Get Info
- C3/Acetylcarnitine (C2), Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.24
- Last Updated
- Version 2.73
- Order vs. Observation
- Both
- Common Test Rank Get Info
- 18646
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 58092-8 | Acylcarnitine newborn screen panel |
| 53262-2 | Carnitine newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Propionilcarnitina (C3)/Acetilcarnitina (C2): Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Propionilcarnitina (C3) / Acetilcarnitina (C2): |
| fr-CA | French (Canada) | Propionylcarnitine (C3)/Acétylcarnitine (C2): |
| fr-FR | French (France) | Propionylcarnitine (C3)/acétylcarnitine (C2): |
| fr-BE | French (Belgium) | Propionylcarnitine (C3)/Acétylcarnitine (C2): |
| it-IT | Italian (Italy) | Propionilcarnitina (C3)/Acetilcarnitina (C2): Synonyms: Chimica Punto nel tempo (episodio) Rapporto di sostanza Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | propionylcarnitine (C3)/acetylcarnitine (C2): |
| pt-BR | Portuguese (Brazil) | Propionilcarnitina (C3)/Acetilcarnitina (C2): Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Пропионилкарнитин (C3)/Ацетилкарнитин (C2): Synonyms: Количественный Кровь Кровь сухая капля Мольная доля; |
| tr-TR | Turkish (Turkey) | Propiyonilkarnitin (C3)/Asetilkarnitin (C2): Synonyms: SubsOranı |
| zh-CN | Chinese (China) | 丙酰肉碱 (C3)/乙酰肉碱 (C2): Synonyms: 丙酰肉碱（肉毒碱、 |
Example Units
| Unit | Source |
|---|---|
| {Ratio} | Example UCUM Units |
54462-7 Malonylcarnitine (C3-DC) [Moles/volume] in DBS
Part Descriptions
LP70363-4 Malonylcarnitine (C3-DC)
Malonylcarnitine is a metabolite that accumulates with specific disruption of fatty-acid oxidation caused by impaired entry of long-chain acylcarnitine esters into the mitochondria and failure of the mitochondrial respiratory chain at complex 11 and malonyl-CoA decarboxylase (EC 4.1.1.9) deficiency [OMIM: 248360]. Malonylcarnitine has also been found to accumulate in some newborns with medium-chain acyl-CoA dehydrogenase (EC 1.3.99.3) deficiency [OMIM: 201450], PMID: 11558490, PMID: 15303003, PMID: 12651823.
Copyright Copyright ©2005-2009 Genome Alberta (Reference to original publication: Wishart DS, Knox C, Guo AC, et al. HMDB: a knowledgebase for the human metabolome. Nucleic Acids Res. 2009 37(Database issue):D603-610.)
Source: Human Metabolome Database, Malonylcarnitine
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Malonylcarnitine (C3-DC)
- Property
- SCnc
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- Malonylcarn DBS-sCnc
- Display Name
- C3-DC (DBS) [Moles/Vol]
- Consumer Name Alpha Get Info
- C3-DC, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.27
- Last Updated
- Version 2.70
- Order vs. Observation
- Both
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 58092-8 | Acylcarnitine newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Malonilcarnitina (C3-DC): Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Malonilcarnitina (C3-DC): |
| et-EE | Estonian (Estonia) | Malonüülkarnitiin (C3-DC): Synonyms: Aine kontsentratsioon Juhuslik Kvantitatiivne Veri |
| fr-CA | French (Canada) | Malonylcarnitine (C3-DC): |
| fr-FR | French (France) | Malonylcarnitine (C3-DC): |
| fr-BE | French (Belgium) | Malonylcarnitine (C3-DC): |
| it-IT | Italian (Italy) | Malonilcarnitina (C3-DC): Synonyms: Chimica Concentrazione di Sostanza Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | malonylcarnitine (C3-DC): |
| pt-BR | Portuguese (Brazil) | Malonilcarnitina (C3-DC): Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Малонилкарнитин (C3-DC): Synonyms: Количественный Кровь Кровь сухая капля Молярность; |
| tr-TR | Turkish (Turkey) | Malonilkarnitin (C3-DC): |
| zh-CN | Chinese (China) | 丙二酰肉碱 (C3-DC): Synonyms: 丙二酰肉碱（肉毒碱、 |
Example Units
| Unit | Source |
|---|---|
| umol/L | Example UCUM Units |
67708-8 Malonylcarnitine (C3-DC)+3-Hydroxybutyrylcarnitine (C4-OH) [Moles/volume] in DBS
Term Description
This analyte is measured using the non-derivatized tandem mass spectrometry (MS/MS) method and is not measured when using the derivatized reagents. When using the derivatized reagents, it will instead be measured as the C3-DC+C8-OH analyte [LOINC: 53178-0]. A different LOINC code is used for the derivatized or non-derivatized method because based on the reagents used in processing, different sets of analytes become isobaric, which means that they cannot be distinguished on the MS/MS because they have the same molecular weight after reagent processing.
Source: Regenstrief LOINC
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Malonylcarnitine (C3-DC)+3-Hydroxybutyrylcarnitine (C4-OH)
- Property
- SCnc
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- Malonyl+3OHbutyrylcarn DBS-sCnc
- Display Name
- C3-DC+C4-OH (DBS) [Moles/Vol]
- Consumer Name Alpha Get Info
- C3-DC+C4-OH, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.38
- Last Updated
- Version 2.73
- Order vs. Observation
- Both
- Common Test Rank Get Info
- 17981
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 58092-8 | Acylcarnitine newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Malonilcarnitina (C3-DC)+3-hidroxibutirilcarnitina (C4-OH): Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Malonilcarnitina (C3-DC) + 3-Hidroxibutirilcarnitina (C4-OH): |
| fr-CA | French (Canada) | Malonylcarnitine (C3-DC)+3-hydroxybutyrylcarnitine (C4-OH): |
| fr-FR | French (France) | Malonylcarnitine (C3-DC)+3-hydroxybutyrylcarnitine (C4-OH): |
| it-IT | Italian (Italy) | Malonilcarnitina (C3-DC)+3-Idrossibutirilcarnitina (C4-OH): Synonyms: Chimica Concentrazione di Sostanza Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | malonylcarnitine (C3-DC) + 3-hydroxybutyrylcarnitine (C4-OH): |
| ru-RU | Russian (Russian Federation) | Малонилкарнитин (C3-DC)+3-Гидроксибутирилкарнитин (C4-OH): Synonyms: Количественный Кровь Кровь сухая капля Молярность; |
| tr-TR | Turkish (Turkey) | Malonilkarnitin (C3-DC)+3-Hidroksibütirilkarnitin (C4-OH): |
| zh-CN | Chinese (China) | 丙二酰肉碱 (C3-DC)+3-羟基异丁酰肉碱 (C4-OH): Synonyms: 3-羟基丁酰肉碱（肉毒碱、 |
Example Units
| Unit | Source |
|---|---|
| umol/L | Example UCUM Units |
75213-9 Malonylcarnitine (C3-DC)+3-Hydroxybutyrylcarnitine (C4-OH)/Decanoylcarnitine (C10) [Molar ratio] in DBS
Term Description
C3DC (Malonylcarnitine)+C4OH (3-Hydroxybutyrylcarnitine)/C10 (Decanoylcarnitine) is a marker for malonic acidemia (also known as malonic aciduria), which is one of the secondary conditions on the HHS Secretary's Recommended Uniform Screening Panel for newborn screening.
Source: Regenstrief LOINC
Part Descriptions
LP70167-9 Decanoylcarnitine (C10)
Decanoylcarnitine is a primary marker for Medium-chain acyl-CoA dehydrogenase deficiency and Glutaric acidemia type II. Secondary marker for Medium-chain ketoacyl-CoA thiolase deficiency.
Source: Regenstrief LOINC
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Malonylcarnitine (C3-DC)+3-Hydroxybutyrylcarnitine (C4-OH)/Decanoylcarnitine (C10)
- Property
- SRto
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- Malonyl+3OHbutyrylcarn/C10 DBS-sRto
- Display Name
- C3-DC+C4-OH/Decanoylcarnitine (C10) (DBS) [Molar ratio]
- Consumer Name Alpha Get Info
- C3-DC+C4-OH/Decanoylcarnitine (C10), Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.48
- Last Updated
- Version 2.61
- Order vs. Observation
- Both
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 58092-8 | Acylcarnitine newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Malonilcarnitina (C3-DC)+3-hidroxibutirilcarnitina (C4-OH)/Decanoilcarnitina (C10): Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Malonilcarnitina (C3-DC) + 3-Hidroxibutirilcarnitina (C4-OH) / Decanoilcarnitina (C10): |
| fr-CA | French (Canada) | Malonylcarnitine (C3-DC)+3-hydroxybutyrylcarnitine (C4-OH)/Décanoylcarnitine (C10): |
| fr-FR | French (France) | Malonylcarnitine (C3-DC)+3-hydroxybutyrylcarnitine (C4-OH)/décanoylcarnitine (C10): |
| it-IT | Italian (Italy) | Malonilcarnitina (C3-DC)+3-Idrossibutirilcarnitina (C4-OH)/Decanoilcarnitina (C10): Synonyms: Chimica Punto nel tempo (episodio) Rapporto di sostanza Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | malonylcarnitine (C3-DC) + 3-hydroxybutyrylcarnitine (C4-OH)/decanoylcarnitine (C10): |
| pt-BR | Portuguese (Brazil) | Malonilcarnitina (C3-DC)+3-Hidroxibutirilcarnitina (C4-OH)/Decanoilcarnitina (C10): |
| ru-RU | Russian (Russian Federation) | Малонилкарнитин (C3-DC)+3-Гидроксибутирилкарнитин (C4-OH)/Деканоилкарнитин (C10): Synonyms: Количественный Кровь Кровь сухая капля Мольная доля; |
| tr-TR | Turkish (Turkey) | Malonilkarnitin (C3-DC)+3-Hidroksibütirilkarnitin (C4-OH)/Dekanoilkarnitin (C10): Synonyms: SubsOranı |
| zh-CN | Chinese (China) | 丙二酰肉碱 (C3-DC)+3-羟基异丁酰肉碱 (C4-OH)/癸酰肉碱 (C10): Synonyms: 3-羟基丁酰肉碱（肉毒碱、 |
Example Units
| Unit | Source |
|---|---|
| {ratio} | Example UCUM Units |
53164-0 Propionylcarnitine (C3)/Palmitoylcarnitine (C16) [Molar ratio] in DBS
Part Descriptions
LP19303-4 Propionylcarnitine (C3)
Propionylcarnitine is a primary marker for Propionic acidemia, Methylmalonic acidemia (mut), Methylmalonic acidemia (Cbl A, B), Methylmalonic aciduria and homocystinuria, and Succinyl-CoA ligase deficiency. Secondary marker for Multiple carboxylase deficiency.
Source: Regenstrief LOINC
LP70162-0 Palmitoylcarnitine (C16)
Palmitoylcarnitine is a primary marker for Very long-chain acyl-CoA dehydrogenase deficiency, Long-chain L-3-Hydroxy dehydrogenase deficiency, Trifunctional protein deficiency, Carnitine palmitoyltransferase I deficiency, Carnitine acylcarnitine translocase deficiency, and Carnitine palmitoyltransferase II deficiency. Secondary marker for Carnitine uptake defect.
Source: Regenstrief LOINC
Observation Required in Panel
Conditional
Type of Entry
Question expects user entry - requires response [Q]
Fully-Specified Name
- Component
- Propionylcarnitine (C3)/Palmitoylcarnitine (C16)
- Property
- SRto
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- Propionylcarn/C16 DBS-sRto
- Display Name
- C3/Palmitoylcarnitine (C16) (DBS) [Molar ratio]
- Consumer Name Alpha Get Info
- C3/Palmitoylcarnitine (C16), Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.24
- Last Updated
- Version 2.73
- Order vs. Observation
- Both
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 58092-8 | Acylcarnitine newborn screen panel |
| 53262-2 | Carnitine newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Propionilcarnitina (C3)/Palmitoilcarnitina (C16): Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Propionilcarnitina (C3) / Palmitoilcarnitina (C16): |
| fr-CA | French (Canada) | Propionylcarnitine (C3)/Palmitoylcarnitine (C16): |
| fr-FR | French (France) | Propionylcarnitine (C3)/palmitoylcarnitine (C16): |
| fr-BE | French (Belgium) | Propionylcarnitine (C3)/Palmitoylcarnitine (C16): |
| it-IT | Italian (Italy) | Propionilcarnitina (C3)/Palmitoilcarnitina (C16): Synonyms: Chimica Punto nel tempo (episodio) Rapporto di sostanza Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | propionylcarnitine (C3)/palmitoylcarnitine (C16): |
| pt-BR | Portuguese (Brazil) | Propionilcarnitina (C3)/Palmitoilcarnitina (C16): Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Пропионилкарнитин (C3)/Пальмитоилкарнитин (C16): Synonyms: Количественный Кровь Кровь сухая капля Мольная доля; |
| tr-TR | Turkish (Turkey) | Propiyonilkarnitin (C3)/Palmitoilkarnitin (C16): Synonyms: SubsOranı |
| zh-CN | Chinese (China) | 丙酰肉碱 (C3)/棕榈酰肉碱 (C16): Synonyms: 丙酰肉碱（肉毒碱、 |
Example Units
| Unit | Source |
|---|---|
| {Ratio} | Example UCUM Units |
53166-5 Butyrylcarnitine+Isobutyrylcarnitine (C4) [Moles/volume] in DBS
Part Descriptions
LP66333-3 Butyrylcarnitine+Isobutyrylcarnitine (C4)
Butyrylcarnitine+Isobutyrylcarnitine is a primary marker for Short-chain acyl-CoA dehydrogenase deficiency, Glutaric acidemia type II and Isobutyrylglycinuria, Ethylmalonic encephalopathy.
Source: Regenstrief LOINC
Observation Required in Panel
Conditional
Type of Entry
Question expects user entry - requires response [Q]
Fully-Specified Name
- Component
- Butyrylcarnitine+Isobutyrylcarnitine (C4)
- Property
- SCnc
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- Butyryl+Isobutyrylcarn DBS-sCnc
- Display Name
- Butyrylcarnitine+Isobutyrylcarnitine (C4) (DBS) [Moles/Vol]
- Consumer Name Alpha Get Info
- Butyrylcarnitine+Isobutyrylcarnitine (C4), Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.24
- Last Updated
- Version 2.73
- Order vs. Observation
- Observation
- Common Test Rank Get Info
- 17344
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 58092-8 | Acylcarnitine newborn screen panel |
| 53262-2 | Carnitine newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Butirilcarnitina+Isobutirilcarnitina: Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Butirilcarnitina + Isobutirilcarnitina (C4): |
| et-EE | Estonian (Estonia) | Butürüülkarnitiin + isobutürüülkarnitiin (C4): Synonyms: Aine kontsentratsioon Juhuslik Kvantitatiivne Veri |
| fr-CA | French (Canada) | Butyrylcarnitine+Isobutyrylcarnitine (C4): |
| fr-FR | French (France) | Butyrylcarnitine+isobutyrylcarnitine (C4): |
| fr-BE | French (Belgium) | Butyrylcarnitine+Isobutyrylcarnitine (C4): |
| it-IT | Italian (Italy) | Butirrilcarnitina+Isobutirrilcarnitina (C4): Synonyms: Chimica Concentrazione di Sostanza Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | butyrylcarnitine + isobutyrylcarnitine (C4): |
| pt-BR | Portuguese (Brazil) | Butirilcarnitina+Isobutirilcarnitina (C4): Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Бутирилкарнитин+Изобутирилкарнитин (C4): Synonyms: Количественный Кровь Кровь сухая капля Молярность; |
| tr-TR | Turkish (Turkey) | Bütirilkarnitin+izobütirilkarnitin (C4): |
| zh-CN | Chinese (China) | 丁酰肉碱+异丁酰肉碱 (C4): Synonyms: 丁酰肉碱（肉毒碱、 |
Example Units
| Unit | Source |
|---|---|
| umol/L | Example UCUM Units |
53167-3 Butyrylcarnitine+Isobutyrylcarnitine (C4)/Acetylcarnitine (C2) [Molar ratio] in DBS
Term Description
Butyrylcarnitine+Isobutyrylcarnitine/Acetylcarnitine is a primary marker for Short-chain acyl-CoA dehydrogenase deficiency, Glutaric acidemia type II and Isobutyrylglycinuria, Ethylmalonic encephalopathy.
Source: Regenstrief LOINC
Part Descriptions
LP66333-3 Butyrylcarnitine+Isobutyrylcarnitine (C4)
Butyrylcarnitine+Isobutyrylcarnitine is a primary marker for Short-chain acyl-CoA dehydrogenase deficiency, Glutaric acidemia type II and Isobutyrylglycinuria, Ethylmalonic encephalopathy.
Source: Regenstrief LOINC
LP70165-3 Acetylcarnitine (C2)
Acetyl-L-carnitine or ALCAR, is an acetylated form of L-carnitine. ALCAR has been claimed to be superior to normal L-carnitine in terms of bioavailability. However, at least one study has suggested that the acetylated form may have a lower oral bioavailability.
Copyright Text is available under the Creative Commons Attribution/Share-Alike License. See http://creativecommons.org/licenses/by-sa/3.0/ for details.
Source: Wikipedia, Acetylcarnitine
Observation Required in Panel
Conditional
Type of Entry
Question expects user entry - requires response [Q]
Fully-Specified Name
- Component
- Butyrylcarnitine+Isobutyrylcarnitine (C4)/Acetylcarnitine (C2)
- Property
- SRto
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- Butyryl+Isobutyrylcarn/C2 DBS-sRto
- Display Name
- Butyrylcarnitine+Isobutyrylcarnitine (C4)/Acetylcarnitine (C2) (DBS) [Molar ratio]
- Consumer Name Alpha Get Info
- Butyrylcarnitine+Isobutyrylcarnitine (C4)/Acetylcarnitine (C2), Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.24
- Last Updated
- Version 2.61
- Order vs. Observation
- Both
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 58092-8 | Acylcarnitine newborn screen panel |
| 53262-2 | Carnitine newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Butirilcarnitina+Isobutirilcarnitina/Acetilcarnitina (C2): Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Butirilcarnitina + Isobutirilcarnitina (C4) / Acetilcarnitina (C2): |
| fr-CA | French (Canada) | Butyrylcarnitine+Isobutyrylcarnitine (C4)/Acétylcarnitine (C2): |
| fr-FR | French (France) | Butyrylcarnitine+isobutyrylcarnitine (C4)/acétylcarnitine (C2): |
| fr-BE | French (Belgium) | Butyrylcarnitine+Isobutyrylcarnitine (C4)/Acétylcarnitine (C2): |
| it-IT | Italian (Italy) | Butirrilcarnitina+Isobutirrilcarnitina (C4)/Acetilcarnitina (C2): Synonyms: Chimica Punto nel tempo (episodio) Rapporto di sostanza Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | butyrylcarnitine + isobutyrylcarnitine (C4)/acetylcarnitine (C2): |
| pt-BR | Portuguese (Brazil) | Butirilcarnitina+Isobutirilcarnitina (C4)/Acetilcarnitina (C2): Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Бутирилкарнитин+Изобутирилкарнитин (C4)/Ацетилкарнитин (C2): Synonyms: Количественный Кровь Кровь сухая капля Мольная доля; |
| tr-TR | Turkish (Turkey) | Bütirilkarnitin+izobütirilkarnitin (C4)/Asetilkarnitin (C2): Synonyms: SubsOranı |
| zh-CN | Chinese (China) | 丁酰肉碱+异丁酰肉碱 (C4)/乙酰肉碱 (C2): Synonyms: 丁酰肉碱（肉毒碱、 |
Example Units
| Unit | Source |
|---|---|
| {Ratio} | Example UCUM Units |
53168-1 Butyrylcarnitine+Isobutyrylcarnitine (C4)/Propionylcarnitine (C3) [Molar ratio] in DBS
Term Description
Butyrylcarnitine+Isobutyrylcarnitine/Propionylcarnitine is a primary marker for Short-chain acyl-CoA dehydrogenase deficiency, Glutaric acidemia type II and Isobutyrylglycinuria, Ethylmalonic encephalopathy.
Source: Regenstrief LOINC
Part Descriptions
LP66333-3 Butyrylcarnitine+Isobutyrylcarnitine (C4)
Butyrylcarnitine+Isobutyrylcarnitine is a primary marker for Short-chain acyl-CoA dehydrogenase deficiency, Glutaric acidemia type II and Isobutyrylglycinuria, Ethylmalonic encephalopathy.
Source: Regenstrief LOINC
LP70306-3 Propionylcarnitine (C3)
Propionylcarnitine is a primary marker for Propionic acidemia, Methylmalonic acidemia (mut), Methylmalonic acidemia (Cbl A, B), Methylmalonic aciduria and homocystinuria, and Succinyl-CoA ligase deficiency. Secondary marker for Multiple carboxylase deficiency.
Source: Regenstrief LOINC
Observation Required in Panel
Conditional
Type of Entry
Question expects user entry - requires response [Q]
Fully-Specified Name
- Component
- Butyrylcarnitine+Isobutyrylcarnitine (C4)/Propionylcarnitine (C3)
- Property
- SRto
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- Butyryl+Isobutyrylcarn/C3 DBS-sRto
- Display Name
- Butyrylcarnitine+Isobutyrylcarnitine (C4)/Propionylcarnitine (C3) (DBS) [Molar ratio]
- Consumer Name Alpha Get Info
- Butyrylcarnitine+Isobutyrylcarnitine (C4)/Propionylcarnitine (C3), Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.24
- Last Updated
- Version 2.61
- Order vs. Observation
- Both
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 58092-8 | Acylcarnitine newborn screen panel |
| 53262-2 | Carnitine newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Butirilcarnitina+Isobutirilcarnitina/Propionilcarnitina (C39: Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Butirilcarnitina + Isobutirilcarnitina (C4) / Propionilcarnitina (C3): |
| fr-CA | French (Canada) | Butyrylcarnitine+Isobutyrylcarnitine (C4)/Propionylcarnitine (C3): |
| fr-FR | French (France) | Butyrylcarnitine+isobutyrylcarnitine (C4)/propionycarnitine (C3): |
| fr-BE | French (Belgium) | Butyrylcarnitine+Isobutyrylcarnitine (C4)/Propionylcarnitine (C3): |
| it-IT | Italian (Italy) | Butirrilcarnitina+Isobutirrilcarnitina (C4)/Propionilcarnitina (C3): Synonyms: Chimica Punto nel tempo (episodio) Rapporto di sostanza Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | butyrylcarnitine + isobutyrylcarnitine (C4)/propionylcarnitine (C3): |
| pt-BR | Portuguese (Brazil) | Butirilcarnitina+Isobutirilcarnitina (C4)/Propionilcarnitina (C3): Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Бутирилкарнитин+Изобутирилкарнитин (C4)/Пропионилкарнитин (C3): Synonyms: Количественный Кровь Кровь сухая капля Мольная доля; |
| tr-TR | Turkish (Turkey) | Bütirilkarnitin+izobütirilkarnitin (C4)/Propiyonilkarnitin (C3): Synonyms: SubsOranı |
| zh-CN | Chinese (China) | 丁酰肉碱+异丁酰肉碱 (C4)/丙酰肉碱 (C3): Synonyms: 丁酰肉碱（肉毒碱、 |
Example Units
| Unit | Source |
|---|---|
| {Ratio} | Example UCUM Units |
53169-9 Butyrylcarnitine+Isobutyrylcarnitine (C4)/Octanoylcarnitine (C8) [Molar ratio] in DBS
Term Description
Butyrylcarnitine+Isobutyrylcarnitine/Octanoylcarnitine is a primary marker for Short-chain acyl-CoA dehydrogenase deficiency, Isobutyrylglycinuria and Ethylmalonic encephalopathy.
Source: Regenstrief LOINC
Part Descriptions
LP66333-3 Butyrylcarnitine+Isobutyrylcarnitine (C4)
Butyrylcarnitine+Isobutyrylcarnitine is a primary marker for Short-chain acyl-CoA dehydrogenase deficiency, Glutaric acidemia type II and Isobutyrylglycinuria, Ethylmalonic encephalopathy.
Source: Regenstrief LOINC
LP70166-1 Octanoylcarnitine (C8)
Octanoylcarnitine is a primary marker for Medium-chain acyl-CoA dehydrogenase deficiency, Glutaric acidemia type II and Medium-chain ketoacyl-CoA thiolase deficiency.
Source: Regenstrief LOINC
Observation Required in Panel
Conditional
Type of Entry
Question expects user entry - requires response [Q]
Fully-Specified Name
- Component
- Butyrylcarnitine+Isobutyrylcarnitine (C4)/Octanoylcarnitine (C8)
- Property
- SRto
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- Butyryl+Isobutyrylcarn/C8 DBS-sRto
- Display Name
- Butyrylcarnitine+Isobutyrylcarnitine (C4)/Octanoylcarnitine (C8) (DBS) [Molar ratio]
- Consumer Name Alpha Get Info
- Butyrylcarnitine+Isobutyrylcarnitine (C4)/Octanoylcarnitine (C8), Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.24
- Last Updated
- Version 2.61
- Order vs. Observation
- Both
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 58092-8 | Acylcarnitine newborn screen panel |
| 53262-2 | Carnitine newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Butirilcarnitina+Isobutirilcarnitina/Octanoilcarnitina (C8): Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Butirilcarnitina + Isobutirilcarnitina (C4) / Octanoilcarnitina (C8): |
| fr-CA | French (Canada) | Butyrylcarnitine+Isobutyrylcarnitine (C4)/Octanoylcarnitine (C8): |
| fr-FR | French (France) | Butyrylcarnitine+isobutyrylcarnitine (C4)/octanoylcarnitine (C8): |
| fr-BE | French (Belgium) | Butyrylcarnitine+Isobutyrylcarnitine (C4)/Octanoylcarnitine (C8): |
| it-IT | Italian (Italy) | Butirrilcarnitina+Isobutirrilcarnitina (C4)/Octanoilcarnitina (C8): Synonyms: Chimica Punto nel tempo (episodio) Rapporto di sostanza Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | butyrylcarnitine + isobutyrylcarnitine (C4)/octanoylcarnitine (C8): |
| pt-BR | Portuguese (Brazil) | Butirilcarnitina+Isobutirilcarnitina (C4)/Octanoilcarnitina (C8): Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Бутирилкарнитин+Изобутирилкарнитин (C4)/Октаноилкарнитин (C8): Synonyms: Количественный Кровь Кровь сухая капля Мольная доля; |
| tr-TR | Turkish (Turkey) | Bütirilkarnitin+izobütirilkarnitin (C4)/Oktanoilkarnitin (C8): Synonyms: SubsOranı |
| zh-CN | Chinese (China) | 丁酰肉碱+异丁酰肉碱 (C4)/辛酰肉碱 (C8): Synonyms: 丁酰肉碱（肉毒碱、 |
Example Units
| Unit | Source |
|---|---|
| {Ratio} | Example UCUM Units |
53170-7 Tiglylcarnitine (C5:1) [Moles/volume] in DBS
Part Descriptions
LP66336-6 Tiglylcarnitine (C5:1)
Tiglylcarnitine is a primary marker for Beta-Ketothiolase deficiency and 2-Methyl-3-hydroxybutyric aciduria.
Source: Regenstrief LOINC
Observation Required in Panel
Conditional
Type of Entry
Question expects user entry - requires response [Q]
Fully-Specified Name
- Component
- Tiglylcarnitine (C5:1)
- Property
- SCnc
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- Tiglylcarn DBS-sCnc
- Display Name
- Tiglylcarnitine (C5:1) (DBS) [Moles/Vol]
- Consumer Name Alpha Get Info
- Tiglylcarnitine (C5:1), Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.24
- Last Updated
- Version 2.73
- Order vs. Observation
- Both
- Common Test Rank Get Info
- 19853
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 58092-8 | Acylcarnitine newborn screen panel |
| 53262-2 | Carnitine newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Tiglilcarnitina (C5: Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Tiglylcarnitine (C5: |
| et-EE | Estonian (Estonia) | Tiglülkarnitiin (C5: Synonyms: Aine kontsentratsioon Juhuslik Kvantitatiivne Veri |
| fr-CA | French (Canada) | Tiglylcarnitine (C5: |
| fr-FR | French (France) | Tiglylcarnitine (C5: |
| fr-BE | French (Belgium) | Tiglylcarnitine (C5: |
| it-IT | Italian (Italy) | Tiglilcarnitina (C5: Synonyms: Chimica Concentrazione di Sostanza Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | tiglylcarnitine (C5: |
| pl-PL | Polish (Poland) | Tiglilokarnityna (C5: Synonyms: Tiglicarnityna (C5: |
| pt-BR | Portuguese (Brazil) | Tiglilcarnitina (C5: Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Тиглилкарнитин (C5: Synonyms: Количественный Кровь Кровь сухая капля Молярность; |
| tr-TR | Turkish (Turkey) | Tiglilkarnitin (C5: |
| zh-CN | Chinese (China) | 甲基巴豆酰肉碱 (C5: Synonyms: Ⅰ I 克分子浓度; |
Example Units
| Unit | Source |
|---|---|
| umol/L | Example UCUM Units |
45207-8 Glutarylcarnitine (C5-DC) [Moles/volume] in DBS
Part Descriptions
LP19314-1 Glutarylcarnitine (C5-DC)
Glutaric aciduria type I (GA I) is an autosomal-recessive deficiency of glutaryl-CoA-dehydrogenase and leads to encephalopathic crises resulting in neurological damage. A screening parameter is glutarylcarnitine (C5DC) with carnitine ratios. C5DC was shown to be significantly associated with renal manifestations. Creatinine correlates significantly with C5DC and all C5DC/acylcarnitine ratios. PMID: 20033292
Source: Regenstrief LOINC
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Glutarylcarnitine (C5-DC)
- Property
- SCnc
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- Glutarylcarn DBS-sCnc
- Display Name
- C5-DC (DBS) [Moles/Vol]
- Consumer Name Alpha Get Info
- C5-DC, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.17
- Last Updated
- Version 2.73
- Order vs. Observation
- Both
- Common Test Rank Get Info
- 17229
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 58092-8 | Acylcarnitine newborn screen panel |
| 53262-2 | Carnitine newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Glutarilcarnitina (C5-DC): Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Glutarilcarnitina (C5-DC): |
| et-EE | Estonian (Estonia) | Glutarüülkarnitiin (C5-DC): Synonyms: Aine kontsentratsioon Juhuslik Kvantitatiivne Veri |
| fr-CA | French (Canada) | Glutarylcarnitine (C5-DC): |
| fr-FR | French (France) | Glutarylcarnitine (C5-DC): |
| fr-BE | French (Belgium) | Glutarylcarnitine (C5-DC): |
| it-IT | Italian (Italy) | Glutarilcarnitina (C5-DC): Synonyms: Chimica Concentrazione di Sostanza Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | glutarylcarnitine (C5-DC): |
| pt-BR | Portuguese (Brazil) | Glutarilcarnitina (C5-DC): Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Глутарилкарнитин (C5-DC): Synonyms: Количественный Кровь Кровь сухая капля Молярность; |
| tr-TR | Turkish (Turkey) | Glutarilkarnitin (C5-DC): |
| zh-CN | Chinese (China) | 戊二酰肉碱 (C5-DC): Synonyms: 克分子浓度; |
Example Units
| Unit | Source |
|---|---|
| umol/L | Example UCUM Units |
75216-2 Glutarylcarnitine (C5-DC)/Malonylcarnitine (C3-DC) [Molar ratio] in DBS
Term Description
C5DC (Glutarylcarnitine)/C3DC (Malonylcarnitine) is a marker for malonic acidemia (also known as malonic aciduria), which is one of the secondary conditions on the HHS Secretary's Recommended Uniform Screening Panel for newborn screening.
Source: Regenstrief LOINC
Part Descriptions
LP19314-1 Glutarylcarnitine (C5-DC)
Glutaric aciduria type I (GA I) is an autosomal-recessive deficiency of glutaryl-CoA-dehydrogenase and leads to encephalopathic crises resulting in neurological damage. A screening parameter is glutarylcarnitine (C5DC) with carnitine ratios. C5DC was shown to be significantly associated with renal manifestations. Creatinine correlates significantly with C5DC and all C5DC/acylcarnitine ratios. PMID: 20033292
Source: Regenstrief LOINC
Fully-Specified Name
- Component
- Glutarylcarnitine (C5-DC)/Malonylcarnitine (C3-DC)
- Property
- SRto
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- Glutarylcarn/C3-DC DBS-sRto
- Display Name
- C5-DC/Malonylcarnitine (C3-DC) (DBS) [Molar ratio]
- Consumer Name Alpha Get Info
- C5-DC/Malonylcarnitine (C3-DC), Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.48
- Last Updated
- Version 2.61
- Order vs. Observation
- Both
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 58092-8 | Acylcarnitine newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Glutarilcarnitina (C5-DC)/Malonilcarnitina (C3-DC): Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Glutarilcarnitina (C5-DC) / Malonilcarnitina (C3-DC): |
| fr-FR | French (France) | Glutarylcarnitine (C5-DC)/malonylcarnitine (C3-DC): |
| it-IT | Italian (Italy) | Glutarilcarnitina (C5-DC)/Malonilcarnitina (C3-DC): Synonyms: Chimica Punto nel tempo (episodio) Rapporto di sostanza Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | glutarylcarnitine (C5-DC)/malonylcarnitine (C3-DC): |
| pt-BR | Portuguese (Brazil) | Glutarilcarnitina (C5-DC)/Malonilcarnitina (C3-DC): |
| ru-RU | Russian (Russian Federation) | Глутарилкарнитин (C5-DC)/Малонилкарнитин (C3-DC): Synonyms: Количественный Кровь Кровь сухая капля Мольная доля; |
| tr-TR | Turkish (Turkey) | Glutarilkarnitin (C5-DC)/Malonilkarnitin (C3-DC): Synonyms: SubsOranı |
| zh-CN | Chinese (China) | 戊二酰肉碱 (C5-DC)/丙二酰肉碱 (C3-DC): Synonyms: 丙二酰肉碱（肉毒碱、 |
Example Units
| Unit | Source |
|---|---|
| {ratio} | Example UCUM Units |
67701-3 Glutarylcarnitine (C5-DC)+3-Hydroxyhexanoylcarnitine (C6-OH)/Palmitoylcarnitine (C16) [Molar ratio] in DBS
Term Description
This ratio may be computed only when using the non-derivatized tandem mass spectrometry (MS/MS) method reagents which measure the numerator, C5-DC+C6-OH, as a single isobaric analyte.
Source: Regenstrief LOINC
Part Descriptions
LP70162-0 Palmitoylcarnitine (C16)
Palmitoylcarnitine is a primary marker for Very long-chain acyl-CoA dehydrogenase deficiency, Long-chain L-3-Hydroxy dehydrogenase deficiency, Trifunctional protein deficiency, Carnitine palmitoyltransferase I deficiency, Carnitine acylcarnitine translocase deficiency, and Carnitine palmitoyltransferase II deficiency. Secondary marker for Carnitine uptake defect.
Source: Regenstrief LOINC
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Glutarylcarnitine (C5-DC)+3-Hydroxyhexanoylcarnitine (C6-OH)/Palmitoylcarnitine (C16)
- Property
- SRto
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- Glut+3OHhexanoylcarn/C16 DBS-sRto
- Display Name
- C5-DC+C6-OH/Palmitoylcarnitine (C16) (DBS) [Molar ratio]
- Consumer Name Alpha Get Info
- C5-DC+C6-OH/Palmitoylcarnitine (C16), Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.38
- Last Updated
- Version 2.73
- Order vs. Observation
- Observation
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 58092-8 | Acylcarnitine newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Glutarilcarnitina (C5-DC)+3-Hidroxihexanoilcarnitina (C6-OH)/Palmitoilcarnitina (C16): Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Glutarilcarnitina (C5-DC) + 3-Hidroxihexanoilcarnitina (C6-OH) / Palmitoilcarnitina (C16): |
| fr-FR | French (France) | Glutarylcarnitine (C5-DC)+3-hydroxyhexanoylcarnitine (C6-OH)/palmitoylcarnitine (C16): |
| it-IT | Italian (Italy) | Glutarilcarnitina (C5-DC)+3-Idrossiesanoilcarnitina (C6-OH)/Palmitoilcarnitina (C16): Synonyms: Chimica Punto nel tempo (episodio) Rapporto di sostanza Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | glutarylcarnitine (C5-DC) + 3-hydroxyhexanoylcarnitine (C6-OH)/palmitoylcarnitine (C16): |
| ru-RU | Russian (Russian Federation) | Глутарилкарнитин (C5-DC)+3-Гидроксигексаноилкарнитин (C6-OH)/Пальмитоилкарнитин (C16): Synonyms: Количественный Кровь Кровь сухая капля Мольная доля; |
| tr-TR | Turkish (Turkey) | Glutarilkarnitin (C5-DC)+3-Hidroksihekzanoilkarnitin (C6-OH)/Palmitoilkarnitin (C16): Synonyms: SubsOranı |
| zh-CN | Chinese (China) | 戊二酰肉碱 (C5-DC)+3-羟基己酰肉碱 (C6-OH)/棕榈酰肉碱 (C16): Synonyms: 3-羟基己酰肉碱（肉毒碱、 |
Example Units
| Unit | Source |
|---|---|
| {Ratio} | Example UCUM Units |
67710-4 Glutarylcarnitine (C5-DC)+3-Hydroxyhexanoylcarnitine (C6-OH) [Moles/volume] in DBS
Term Description
This analyte is measured using the non-derivatized tandem mass spectrometry (MS/MS) method and is not measured when using the derivatized reagents. When using the derivatized reagents, it will instead be measured as the C5-DC+C10-OH analyte [LOINC: 53183-0]. A different LOINC code is used for the derivatized or non-derivatized method because based on the reagents used in processing, different sets of analytes become isobaric, which means that they cannot be distinguished on the MS/MS because they have the same molecular weight after reagent processing.
Source: Regenstrief LOINC
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Glutarylcarnitine (C5-DC)+3-Hydroxyhexanoylcarnitine (C6-OH)
- Property
- SCnc
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- Glut+3OHhexanoylcarn DBS-sCnc
- Display Name
- C5-DC+C6-OH (DBS) [Moles/Vol]
- Consumer Name Alpha Get Info
- C5-DC+C6-OH, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.38
- Last Updated
- Version 2.73
- Order vs. Observation
- Both
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 58092-8 | Acylcarnitine newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Glutarilcarnitina (C5-DC)+3-Hidroxihexanoilcarnitina (C6-OH): Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Glutarilcarnitina (C5-DC) + 3-Hidroxihexanoilcarnitina (C6-OH): |
| fr-FR | French (France) | Glutarylcarnitine (C5-DC)+3-hydroxyhexanoylcarnitine (C6-OH): |
| it-IT | Italian (Italy) | Glutarilcarnitina (C5-DC)+3-Idrossiesanoilcarnitina (C6-OH): Synonyms: Chimica Concentrazione di Sostanza Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | glutarylcarnitine (C5-DC) + 3-hydroxyhexanoylcarnitine (C6-OH): |
| ru-RU | Russian (Russian Federation) | Глутарилкарнитин (C5-DC)+3-Гидроксигексаноилкарнитин (C6-OH): Synonyms: Количественный Кровь Кровь сухая капля Молярность; |
| tr-TR | Turkish (Turkey) | Glutarilkarnitin (C5-DC)+3-Hidroksihekzanoilkarnitin (C6-OH): |
| zh-CN | Chinese (China) | 戊二酰肉碱 (C5-DC)+3-羟基己酰肉碱 (C6-OH): Synonyms: 3-羟基己酰肉碱（肉毒碱、 |
Example Units
| Unit | Source |
|---|---|
| umol/L | Example UCUM Units |
67711-2 Glutarylcarnitine (C5-DC)+3-Hydroxyhexanoylcarnitine (C6-OH)/Octanoylcarnitine (C8) [Molar ratio] in DBS
Term Description
This ratio may be computed only when using the non-derivatized tandem mass spectrometry (MS/MS) method reagents which measure the numerator, C5-DC+C6-OH, as a single isobaric analyte.
Source: Regenstrief LOINC
Part Descriptions
LP70166-1 Octanoylcarnitine (C8)
Octanoylcarnitine is a primary marker for Medium-chain acyl-CoA dehydrogenase deficiency, Glutaric acidemia type II and Medium-chain ketoacyl-CoA thiolase deficiency.
Source: Regenstrief LOINC
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Glutarylcarnitine (C5-DC)+3-Hydroxyhexanoylcarnitine (C6-OH)/Octanoylcarnitine (C8)
- Property
- SRto
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- Glut+3OHhexanoylcarn/C8 DBS-sRto
- Display Name
- C5-DC+C6-OH/Octanoylcarnitine (C8) (DBS) [Molar ratio]
- Consumer Name Alpha Get Info
- C5-DC+C6-OH/Octanoylcarnitine (C8), Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.38
- Last Updated
- Version 2.73
- Order vs. Observation
- Observation
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 58092-8 | Acylcarnitine newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Glutarilcarnitina (C5-DC)+3-Hidroxihexanoilcarnitina (C6-OH)/Octanoilcarnitina (C8): Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Glutarilcarnitina (C5-DC) + 3-Hidroxihexanoilcarnitina (C6-OH) / Octanoilcarnitina (C8): |
| fr-FR | French (France) | Glutarylcarnitine (C5-DC)+3-hydroxyhexanoylcarnitine (C6-OH)/octanoylcarnitine (C8): |
| it-IT | Italian (Italy) | Glutarilcarnitina (C5-DC)+3-Idrossiesanoilcarnitina (C6-OH)/Octanoilcarnitina (C8): Synonyms: Chimica Punto nel tempo (episodio) Rapporto di sostanza Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | glutarylcarnitine (C5-DC) + 3-hydroxyhexanoylcarnitine (C6-OH)/octanoylcarnitine (C8): |
| ru-RU | Russian (Russian Federation) | Глутарилкарнитин (C5-DC)+3-Гидроксигексаноилкарнитин (C6-OH)/Октаноилкарнитин (C8): Synonyms: Количественный Кровь Кровь сухая капля Мольная доля; |
| tr-TR | Turkish (Turkey) | Glutarilkarnitin (C5-DC)+3-Hidroksihekzanoilkarnitin (C6-OH)/Oktanoilkarnitin (C8): Synonyms: SubsOranı |
| zh-CN | Chinese (China) | 戊二酰肉碱 (C5-DC)+3-羟基己酰肉碱 (C6-OH)/辛酰肉碱 (C8): Synonyms: 3-羟基己酰肉碱（肉毒碱、 |
Example Units
| Unit | Source |
|---|---|
| {Ratio} | Example UCUM Units |
45216-9 Isovalerylcarnitine+Methylbutyrylcarnitine (C5) [Moles/volume] in DBS
Part Descriptions
LP70195-0 Isovalerylcarnitine+Methylbutyrylcarnitine (C5)
Isovalerylcarnitine+Methylbutyrylcarnitine is a primary marker for Isovaleric acidemia, Glutaric acidemia type II, 2-Methylbutyrylglycinuria and Ethylmalonic encephalopathy.
Source: Regenstrief Institute
Observation Required in Panel
Conditional
Type of Entry
Question expects user entry - requires response [Q]
Fully-Specified Name
- Component
- Isovalerylcarnitine+Methylbutyrylcarnitine (C5)
- Property
- SCnc
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- Isovaleryl+MeButyrylcarn DBS-sCnc
- Display Name
- Isovalerylcarnitine+Methylbutyrylcarnitine (C5) (DBS) [Moles/Vol]
- Consumer Name Alpha Get Info
- Isovalerylcarnitine+Methylbutyrylcarnitine (C5), Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.17
- Last Updated
- Version 2.73
- Order vs. Observation
- Both
- Common Test Rank Get Info
- 18875
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 58092-8 | Acylcarnitine newborn screen panel |
| 53262-2 | Carnitine newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Isovalerilcarnitina+Metilbutirilcarnitina (C5): Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Isovalerilcarnitina + Metilbutirilcarnitina (C5): |
| et-EE | Estonian (Estonia) | isovalerüülkarnitiin + metüülbutürüülkarnitiin (C5): Synonyms: Aine kontsentratsioon Juhuslik Kvantitatiivne Veri |
| fr-CA | French (Canada) | Isovalérylcarnitine+Méthylbutyrylcarnitine (C5): |
| fr-FR | French (France) | Isovalérylcarnitine+méthylbutyrylcarnitine (C5): |
| fr-BE | French (Belgium) | Isovalérylcarnitine+Méthylbutyrylcarnitine (C5): |
| it-IT | Italian (Italy) | Isovalerilcarnitina+Metilbutirrilcarnitina (C5): Synonyms: Chimica Concentrazione di Sostanza Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | isovalerylcarnitine + methylbutyrylcarnitine (C5): |
| pt-BR | Portuguese (Brazil) | Isovalerilcarnitina+Metilbutirilcarnitina (C5): Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Изовалерилкарнитин+Метилбутирилкарнитин (C5): Synonyms: Количественный Кровь Кровь сухая капля Молярность; |
| tr-TR | Turkish (Turkey) | İzovalerilkarnitin+Metilbütirilkarnitin (C5): |
| zh-CN | Chinese (China) | 异戊酰肉碱+甲基丁酰肉碱 (C5): Synonyms: 克分子浓度; |
Example Units
| Unit | Source |
|---|---|
| umol/L | Example UCUM Units |
53238-2 Isovalerylcarnitine+Methylbutyrylcarnitine (C5)/Carnitine.free (C0) [Molar ratio] in DBS
Part Descriptions
LP32015-7 Carnitine.free (C0)
Carnitine.free is a primary marker for carnitine uptake defect, propionic acidemia, maternal carnitine uptake defect, carnitine palmitoyltransferase I deficiency and primary lactic acidemia (various types). It is also a secondary marker for maternal glutaric acidemia type I.
Source: Regenstrief LOINC
LP70195-0 Isovalerylcarnitine+Methylbutyrylcarnitine (C5)
Isovalerylcarnitine+Methylbutyrylcarnitine is a primary marker for Isovaleric acidemia, Glutaric acidemia type II, 2-Methylbutyrylglycinuria and Ethylmalonic encephalopathy.
Source: Regenstrief Institute
Observation Required in Panel
Conditional
Type of Entry
Question expects user entry - requires response [Q]
Fully-Specified Name
- Component
- Isovalerylcarnitine+Methylbutyrylcarnitine (C5)/Carnitine.free (C0)
- Property
- SRto
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- Isovaleryl+MeButyrylcarn/C0 DBS-sRto
- Display Name
- Isovalerylcarnitine+Methylbutyrylcarnitine (C5)/Carnitine.free (C0) (DBS) [Molar ratio]
- Consumer Name Alpha Get Info
- Isovalerylcarnitine+Methylbutyrylcarnitine (C5)/Free Carnitine (C0), Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.24
- Last Updated
- Version 2.73
- Order vs. Observation
- Both
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 58092-8 | Acylcarnitine newborn screen panel |
| 53262-2 | Carnitine newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Isovalerilcarnitina+Metilbutirilcarnitina (C5)/Carnitina libre: Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Isovalerilcarnitina + Metilbutirilcarnitina (C5) / Carnitina libre (C0): |
| fr-CA | French (Canada) | Isovalérylcarnitine+Méthylbutyrylcarnitine (C5)/Carnitine.libre (C0): |
| fr-FR | French (France) | Isovalérylcarnitine+méthylbutyrylcarnitine (C5)/carnitine libre (C0): |
| fr-BE | French (Belgium) | Isovalérylcarnitine+Méthylbutyrylcarnitine (C5)/Carnitine.libre (C0): |
| it-IT | Italian (Italy) | Isovalerilcarnitina+Metilbutirrilcarnitina (C5)/Carnitina.libera (C0): Synonyms: Carnitina libera (C0) Chimica Punto nel tempo (episodio) Rapporto di sostanza Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | isovalerylcarnitine + methylbutyrylcarnitine (C5)/carnitine.vrij (C0): |
| pt-BR | Portuguese (Brazil) | Isovalerilcarnitina+Metilbutirilcarnitina (C5)/Carnitina.livre (C0): Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Изовалерилкарнитин+Метилбутирилкарнитин (C5)/Карнитин.свободный(С0): Synonyms: Количественный Кровь Кровь сухая капля Мольная доля; |
| tr-TR | Turkish (Turkey) | İzovalerilkarnitin+Metilbütirilkarnitin (C5)/Karnitin.serb (C0): Synonyms: SubsOranı |
| zh-CN | Chinese (China) | 异戊酰肉碱+甲基丁酰肉碱 (C5)/肉碱.游离型 (C0): Synonyms: 全血斑点(滤纸); |
Example Units
| Unit | Source |
|---|---|
| {Ratio} | Example UCUM Units |
53239-0 Isovalerylcarnitine+Methylbutyrylcarnitine (C5)/Acetylcarnitine (C2) [Molar ratio] in DBS
Term Description
Isovalerylcarnitine+Methylbutyrylcarnitine/Acetylcarnitine is a primary marker for Isovaleric acidemia, Glutaric acidemia type II, 2-Methylbutyrylglycinuria and Ethylmalonic encephalopathy.
Source: Regenstrief LOINC
Part Descriptions
LP70165-3 Acetylcarnitine (C2)
Acetyl-L-carnitine or ALCAR, is an acetylated form of L-carnitine. ALCAR has been claimed to be superior to normal L-carnitine in terms of bioavailability. However, at least one study has suggested that the acetylated form may have a lower oral bioavailability.
Copyright Text is available under the Creative Commons Attribution/Share-Alike License. See http://creativecommons.org/licenses/by-sa/3.0/ for details.
Source: Wikipedia, Acetylcarnitine
LP70195-0 Isovalerylcarnitine+Methylbutyrylcarnitine (C5)
Isovalerylcarnitine+Methylbutyrylcarnitine is a primary marker for Isovaleric acidemia, Glutaric acidemia type II, 2-Methylbutyrylglycinuria and Ethylmalonic encephalopathy.
Source: Regenstrief Institute
Observation Required in Panel
Conditional
Type of Entry
Question expects user entry - requires response [Q]
Fully-Specified Name
- Component
- Isovalerylcarnitine+Methylbutyrylcarnitine (C5)/Acetylcarnitine (C2)
- Property
- SRto
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- Isovaleryl+MeButyrylcarn/C2 DBS-sRto
- Display Name
- Isovalerylcarnitine+Methylbutyrylcarnitine (C5)/Acetylcarnitine (C2) (DBS) [Molar ratio]
- Consumer Name Alpha Get Info
- Isovalerylcarnitine+Methylbutyrylcarnitine (C5)/Acetylcarnitine (C2), Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.24
- Last Updated
- Version 2.73
- Order vs. Observation
- Both
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 58092-8 | Acylcarnitine newborn screen panel |
| 53262-2 | Carnitine newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Isovalerilcarnitina+Metilbutirilcarnitina (C5)/Acetilcarnitina (C2): Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Isovalerilcarnitina + Metilbutirilcarnitina (C5) / Acetilcarnitina (C2): |
| fr-CA | French (Canada) | Isovalérylcarnitine+Méthylbutyrylcarnitine (C5)/Acétylcarnitine (C2): |
| fr-FR | French (France) | Isovalérylcarnitine+méthylbutyrylcarnitine (C5)/acétylcarnitine (C2): |
| fr-BE | French (Belgium) | Isovalérylcarnitine+Méthylbutyrylcarnitine (C5)/Acétylcarnitine (C2): |
| it-IT | Italian (Italy) | Isovalerilcarnitina+Metilbutirrilcarnitina (C5)/Acetilcarnitina (C2): Synonyms: Chimica Punto nel tempo (episodio) Rapporto di sostanza Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | isovalerylcarnitine + methylbutyrylcarnitine (C5)/acetylcarnitine (C2): |
| pt-BR | Portuguese (Brazil) | Isovalerilcarnitina+Metilbutirilcarnitina (C5)/Acetilcarnitina (C2): Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Изовалерилкарнитин+Метилбутирилкарнитин (C5)/Ацетилкарнитин (C2): Synonyms: Количественный Кровь Кровь сухая капля Мольная доля; |
| tr-TR | Turkish (Turkey) | İzovalerilkarnitin+Metilbütirilkarnitin (C5)/Asetilkarnitin (C2): Synonyms: SubsOranı |
| zh-CN | Chinese (China) | 异戊酰肉碱+甲基丁酰肉碱 (C5)/乙酰肉碱 (C2): Synonyms: 乙酰肉碱（肉毒碱、 |
Example Units
| Unit | Source |
|---|---|
| {Ratio} | Example UCUM Units |
53240-8 Isovalerylcarnitine+Methylbutyrylcarnitine (C5)/Propionylcarnitine (C3) [Molar ratio] in DBS
Term Description
Isovalerylcarnitine+Methylbutyrylcarnitine/Propionylcarnitine is a primary marker for Isovaleric acidemia, Glutaric acidemia type II, 2-Methylbutyrylglycinuria and Ethylmalonic encephalopathy.
Source: Regenstrief LOINC
Part Descriptions
LP70195-0 Isovalerylcarnitine+Methylbutyrylcarnitine (C5)
Isovalerylcarnitine+Methylbutyrylcarnitine is a primary marker for Isovaleric acidemia, Glutaric acidemia type II, 2-Methylbutyrylglycinuria and Ethylmalonic encephalopathy.
Source: Regenstrief Institute
LP70306-3 Propionylcarnitine (C3)
Propionylcarnitine is a primary marker for Propionic acidemia, Methylmalonic acidemia (mut), Methylmalonic acidemia (Cbl A, B), Methylmalonic aciduria and homocystinuria, and Succinyl-CoA ligase deficiency. Secondary marker for Multiple carboxylase deficiency.
Source: Regenstrief LOINC
Observation Required in Panel
Conditional
Type of Entry
Question expects user entry - requires response [Q]
Fully-Specified Name
- Component
- Isovalerylcarnitine+Methylbutyrylcarnitine (C5)/Propionylcarnitine (C3)
- Property
- SRto
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- Isovaleryl+MeButyrylcarn/C3 DBS-sRto
- Display Name
- Isovalerylcarnitine+Methylbutyrylcarnitine (C5)/Propionylcarnitine (C3) (DBS) [Molar ratio]
- Consumer Name Alpha Get Info
- Isovalerylcarnitine+Methylbutyrylcarnitine (C5)/Propionylcarnitine (C3), Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.24
- Last Updated
- Version 2.73
- Order vs. Observation
- Both
- Common Test Rank Get Info
- 16602
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 58092-8 | Acylcarnitine newborn screen panel |
| 53262-2 | Carnitine newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Isovalerilcarnitina+Metilbutirilcarnitina (C5)/Propionilcarnitina (C39: Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Isovalerilcarnitina + Metilbutirilcarnitina (C5) / Propionilcarnitina (C3): |
| fr-CA | French (Canada) | Isovalérylcarnitine+Méthylbutyrylcarnitine (C5)/Propionylcarnitine (C3): |
| fr-FR | French (France) | Isovalérylcarnitine+méthylbutyrylcarnitine (C5)/propionylcarnitine (C3): |
| fr-BE | French (Belgium) | Isovalérylcarnitine+Méthylbutyrylcarnitine (C5)/Propionylcarnitine (C3): |
| it-IT | Italian (Italy) | Isovalerilcarnitina+Metilbutirrilcarnitina (C5)/Propionilcarnitina (C3): Synonyms: Chimica Punto nel tempo (episodio) Rapporto di sostanza Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | isovalerylcarnitine + methylbutyrylcarnitine (C5)/propionylcarnitine (C3): |
| pt-BR | Portuguese (Brazil) | Isovalerilcarnitina+Metilbutirilcarnitina (C5)/Propionilcarnitina (C3): Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Изовалерилкарнитин+Метилбутирилкарнитин (C5)/Пропионилкарнитин (C3): Synonyms: Количественный Кровь Кровь сухая капля Мольная доля; |
| tr-TR | Turkish (Turkey) | İzovalerilkarnitin+Metilbütirilkarnitin (C5)/Propiyonilkarnitin (C3): Synonyms: SubsOranı |
| zh-CN | Chinese (China) | 异戊酰肉碱+甲基丁酰肉碱 (C5)/丙酰肉碱 (C3): Synonyms: 丙酰肉碱（肉毒碱、 |
Example Units
| Unit | Source |
|---|---|
| {Ratio} | Example UCUM Units |
53401-6 Isovalerylcarnitine+Methylbutyrylcarnitine (C5)/Octanoylcarnitine (C8) [Molar ratio] in DBS
Part Descriptions
LP70166-1 Octanoylcarnitine (C8)
Octanoylcarnitine is a primary marker for Medium-chain acyl-CoA dehydrogenase deficiency, Glutaric acidemia type II and Medium-chain ketoacyl-CoA thiolase deficiency.
Source: Regenstrief LOINC
LP70195-0 Isovalerylcarnitine+Methylbutyrylcarnitine (C5)
Isovalerylcarnitine+Methylbutyrylcarnitine is a primary marker for Isovaleric acidemia, Glutaric acidemia type II, 2-Methylbutyrylglycinuria and Ethylmalonic encephalopathy.
Source: Regenstrief Institute
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Isovalerylcarnitine+Methylbutyrylcarnitine (C5)/Octanoylcarnitine (C8)
- Property
- SRto
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- Isovaleryl+MeButyrylcarn/C8 DBS-sRto
- Display Name
- Isovalerylcarnitine+Methylbutyrylcarnitine (C5)/Octanoylcarnitine (C8) (DBS) [Molar ratio]
- Consumer Name Alpha Get Info
- Isovalerylcarnitine+Methylbutyrylcarnitine (C5)/Octanoylcarnitine (C8), Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.24
- Last Updated
- Version 2.73
- Order vs. Observation
- Observation
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 58092-8 | Acylcarnitine newborn screen panel |
| 53262-2 | Carnitine newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Isovalerilcarnitina+Metilbutirilcarnitina (C5)/Octanoilcarnitina (C8): Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Isovalerilcarnitina + Metilbutirilcarnitina (C5) / Octanoilcarnitina (C8): |
| fr-CA | French (Canada) | Isovalérylcarnitine+Méthylbutyrylcarnitine (C5)/Octanoylcarnitine (C8): |
| fr-FR | French (France) | Isovalérylcarnitine+méthylbutyrylcarnitine (C5)/octanoylcarnitine (C8): |
| fr-BE | French (Belgium) | Isovalérylcarnitine+Méthylbutyrylcarnitine (C5)/Octanoylcarnitine (C8): |
| it-IT | Italian (Italy) | Isovalerilcarnitina+Metilbutirrilcarnitina (C5)/Octanoilcarnitina (C8): Synonyms: Chimica Punto nel tempo (episodio) Rapporto di sostanza Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | isovalerylcarnitine + methylbutyrylcarnitine (C5)/octanoylcarnitine (C8): |
| pt-BR | Portuguese (Brazil) | Isovalerilcarnitina+Metilbutirilcarnitina (C5)/Octanoilcarnitina (C8): Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Изовалерилкарнитин+Метилбутирилкарнитин (C5)/Октаноилкарнитин (C8): Synonyms: Количественный Кровь Кровь сухая капля Мольная доля; |
| tr-TR | Turkish (Turkey) | İzovalerilkarnitin+Metilbütirilkarnitin (C5)/Oktanoilkarnitin (C8): Synonyms: SubsOranı |
| zh-CN | Chinese (China) | 异戊酰肉碱+甲基丁酰肉碱 (C5)/辛酰肉碱 (C8): Synonyms: 全血斑点(滤纸); |
Example Units
| Unit | Source |
|---|---|
| {Ratio} | Example UCUM Units |
50106-4 3-Hydroxyisovalerylcarnitine (C5-OH) [Moles/volume] in DBS
Part Descriptions
LP19309-1 3-Hydroxyisovalerylcarnitine (C5-OH)
3-Hydroxyisovalerylcarnitine is a primary marker for 3-Methylcrotonyl-CoA carboxylase deficiency, Beta-Ketothiolase deficiency, Multiple carboxylase deficiency, 3-Hydroxy-3-methylglutaric aciduria, 2-Methyl-3-hydroxybutyric aciduria, Maternal 3-Methylcrotonyl-CoA carboxylase deficiency, and 2-Methylbutyrylglycinuria.
Source: Regenstrief LOINC
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- 3-Hydroxyisovalerylcarnitine (C5-OH)
- Property
- SCnc
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- 3OH-Isovalerylcarn DBS-sCnc
- Display Name
- 3-Hydroxyisovalerylcarnitine (C5-OH) (DBS) [Moles/Vol]
- Consumer Name Alpha Get Info
- 3-Hydroxyisovalerylcarnitine (C5-OH), Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.22
- Last Updated
- Version 2.73
- Order vs. Observation
- Both
- Common Test Rank Get Info
- 17950
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 58092-8 | Acylcarnitine newborn screen panel |
| 53262-2 | Carnitine newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | 3-Hidroxiisovalerilcarnitina (C5-OH): Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | 3-hidroxiisovalerilcarnitina (C5-OH): |
| et-EE | Estonian (Estonia) | 3-hüdroksüisovalerüülkarnitiin (C5-OH): Synonyms: Aine kontsentratsioon Juhuslik Kvantitatiivne Veri |
| fr-CA | French (Canada) | 3-hydroxyisovalérylcarnitine (C5-OH): |
| fr-FR | French (France) | 3-hydroxyisovalérylcarnitine (C5-OH): |
| fr-BE | French (Belgium) | 3-hydroxyisovalérylcarnitine (C5-OH): |
| it-IT | Italian (Italy) | 3-Idrossiisovalerilcarnitina (C5-OH): Synonyms: Chimica Concentrazione di Sostanza Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | 3-hydroxyisovalerylcarnitine (C5-OH): |
| pt-BR | Portuguese (Brazil) | 3-Hidroxisovalerilcarnitina (C5-OH): Synonyms: ; |
| ru-RU | Russian (Russian Federation) | 3-Гидроксиизовалерилкарнитин (C5-OH): Synonyms: Количественный Кровь Кровь сухая капля Молярность; |
| tr-TR | Turkish (Turkey) | 3-Hidroksiizovalerilkarnitin (C5-OH): |
| zh-CN | Chinese (China) | 3-羟基异戊酰肉碱 (C5-OH): Synonyms: 3-羟基异戊酰肉碱（肉毒碱、 |
Example Units
| Unit | Source |
|---|---|
| umol/L | Example UCUM Units |
53171-5 3-Hydroxyisovalerylcarnitine (C5-OH)/Carnitine.free (C0) [Molar ratio] in DBS
Term Description
3-Hydroxyisovalerylcarnitine/Carnitine.free is a primary marker for 3-Methylcrotonyl-CoA carboxylase deficiency, Beta-Ketothiolase deficiency, Multiple carboxylase deficiency, 3-Hydroxy-3-methylglutaric aciduria, 2-Methyl-3-hydroxybutyric aciduria, Maternal 3-Methylcrotonyl-CoA carboxylase deficiency, and 2-Methylbutyrylglycinuria. Secondary marker for 3-Methylcrotonyl-CoA carboxylase deficiency, Beta-Ketothiolase deficiency, Multiple carboxylase deficiency, and 3-Hydroxy-3-methylglutaric aciduria.
Source: Regenstrief LOINC
Part Descriptions
LP19309-1 3-Hydroxyisovalerylcarnitine (C5-OH)
3-Hydroxyisovalerylcarnitine is a primary marker for 3-Methylcrotonyl-CoA carboxylase deficiency, Beta-Ketothiolase deficiency, Multiple carboxylase deficiency, 3-Hydroxy-3-methylglutaric aciduria, 2-Methyl-3-hydroxybutyric aciduria, Maternal 3-Methylcrotonyl-CoA carboxylase deficiency, and 2-Methylbutyrylglycinuria.
Source: Regenstrief LOINC
LP32015-7 Carnitine.free (C0)
Carnitine.free is a primary marker for carnitine uptake defect, propionic acidemia, maternal carnitine uptake defect, carnitine palmitoyltransferase I deficiency and primary lactic acidemia (various types). It is also a secondary marker for maternal glutaric acidemia type I.
Source: Regenstrief LOINC
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- 3-Hydroxyisovalerylcarnitine (C5-OH)/Carnitine.free (C0)
- Property
- SRto
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- 3OH-Isovalerylcarn/C0 DBS-sRto
- Display Name
- 3-Hydroxyisovalerylcarnitine (C5-OH)/Carnitine.free (C0) (DBS) [Molar ratio]
- Consumer Name Alpha Get Info
- 3-Hydroxyisovalerylcarnitine (C5-OH)/Free Carnitine (C0), Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.24
- Last Updated
- Version 2.73
- Order vs. Observation
- Both
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 58092-8 | Acylcarnitine newborn screen panel |
| 53262-2 | Carnitine newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | 3-Hidroxiisovalerilcarnitina (C5-OH)/Carnitina libre: Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | 3-hidroxiisovalerilcarnitina (C5-OH) / carnitina libre (C0): |
| fr-CA | French (Canada) | 3-hydroxyisovalérylcarnitine (C5-OH): |
| fr-FR | French (France) | 3-hydroxyisovalérylcarnitine (C5-OH)/carnitine libre (C0): |
| fr-BE | French (Belgium) | 3-hydroxyisovalérylcarnitine (C5-OH)/Carnitine.libre (C0): |
| it-IT | Italian (Italy) | 3-Idrossiisovalerilcarnitina (C5-OH)/Carnitina.libera (C0): Synonyms: Carnitina libera (C0) Chimica Punto nel tempo (episodio) Rapporto di sostanza Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | 3-hydroxyisovalerylcarnitine (C5-OH)/carnitine.vrij (C0): |
| pt-BR | Portuguese (Brazil) | 3-Hidroxisovalerilcarnitina (C5-OH)/Carnitina.livre (C0): Synonyms: ; |
| ru-RU | Russian (Russian Federation) | 3-Гидроксиизовалерилкарнитин (C5-OH)/Карнитин.свободный(С0): Synonyms: Количественный Кровь Кровь сухая капля Мольная доля; |
| tr-TR | Turkish (Turkey) | 3-Hidroksiizovalerilkarnitin (C5-OH)/Karnitin.serb (C0): Synonyms: SubsOranı |
| zh-CN | Chinese (China) | 3-羟基异戊酰肉碱 (C5-OH)/肉碱.游离型 (C0): Synonyms: 3-羟基异戊酰肉碱（肉毒碱、 |
Example Units
| Unit | Source |
|---|---|
| {Ratio} | Example UCUM Units |
53172-3 3-Hydroxyisovalerylcarnitine (C5-OH)/Octanoylcarnitine (C8) [Molar ratio] in DBS
Term Description
3-Hydroxyisovalerylcarnitine/Octanoylcarnitine is a primary marker for 3-Methylcrotonyl-CoA carboxylase deficiency, Beta-Ketothiolase deficiency, Multiple carboxylase deficiency, 3-Hydroxy-3-methylglutaric aciduria, 2-Methyl-3-hydroxybutyric aciduria, Maternal 3-Methylcrotonyl-CoA carboxylase deficiency, and 2-Methylbutyrylglycinuria.
Source: Regenstrief LOINC
Part Descriptions
LP19309-1 3-Hydroxyisovalerylcarnitine (C5-OH)
3-Hydroxyisovalerylcarnitine is a primary marker for 3-Methylcrotonyl-CoA carboxylase deficiency, Beta-Ketothiolase deficiency, Multiple carboxylase deficiency, 3-Hydroxy-3-methylglutaric aciduria, 2-Methyl-3-hydroxybutyric aciduria, Maternal 3-Methylcrotonyl-CoA carboxylase deficiency, and 2-Methylbutyrylglycinuria.
Source: Regenstrief LOINC
LP70166-1 Octanoylcarnitine (C8)
Octanoylcarnitine is a primary marker for Medium-chain acyl-CoA dehydrogenase deficiency, Glutaric acidemia type II and Medium-chain ketoacyl-CoA thiolase deficiency.
Source: Regenstrief LOINC
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- 3-Hydroxyisovalerylcarnitine (C5-OH)/Octanoylcarnitine (C8)
- Property
- SRto
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- 3OH-Isovalerylcarn/C8 DBS-sRto
- Display Name
- 3-Hydroxyisovalerylcarnitine (C5-OH)/Octanoylcarnitine (C8) (DBS) [Molar ratio]
- Consumer Name Alpha Get Info
- 3-Hydroxyisovalerylcarnitine (C5-OH)/Octanoylcarnitine (C8), Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.24
- Last Updated
- Version 2.73
- Order vs. Observation
- Both
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 58092-8 | Acylcarnitine newborn screen panel |
| 53262-2 | Carnitine newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | 3-Hidroxiisovalerilcarnitina (C5-OH)/Octanoilcarnitina (C8): Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | 3-hidroxiisovalerilcarnitina (C5-OH) / octanoilcarnitina (C8): |
| fr-CA | French (Canada) | 3-hydroxyisovalérylcarnitine (C5-OH): |
| fr-FR | French (France) | 3-hydroxyisovalérylcarnitine (C5-OH)/octanoylcarnitine (C8): |
| fr-BE | French (Belgium) | 3-hydroxyisovalérylcarnitine (C5-OH)/Octanoylcarnitine (C8): |
| it-IT | Italian (Italy) | 3-Idrossiisovalerilcarnitina (C5-OH)/Octanoilcarnitina (C8): Synonyms: Chimica Punto nel tempo (episodio) Rapporto di sostanza Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | 3-hydroxyisovalerylcarnitine (C5-OH)/octanoylcarnitine (C8): |
| pt-BR | Portuguese (Brazil) | 3-Hidroxisovalerilcarnitina (C5-OH): Synonyms: ; |
| ru-RU | Russian (Russian Federation) | 3-Гидроксиизовалерилкарнитин (C5-OH)/Октаноилкарнитин (C8): Synonyms: Количественный Кровь Кровь сухая капля Мольная доля; |
| tr-TR | Turkish (Turkey) | 3-Hidroksiizovalerilkarnitin (C5-OH)/Oktanoilkarnitin (C8): Synonyms: SubsOranı |
| zh-CN | Chinese (China) | 3-羟基异戊酰肉碱 (C5-OH)/辛酰肉碱 (C8): Synonyms: 3-羟基异戊酰肉碱（肉毒碱、 |
Example Units
| Unit | Source |
|---|---|
| {Ratio} | Example UCUM Units |
53178-0 3-Hydroxyoctanoylcarnitine (C8-OH)+Malonylcarnitine (C3-DC) [Moles/volume] in DBS
Part Descriptions
LP70084-6 3-Hydroxyoctanoylcarnitine (C8-OH)+Malonylcarnitine (C3-DC)
3-Hydroxyoctanoylcarnitine+Malonylcarnitine is a primary marker for Malonic acidemia and Medium-chain ketoacyl-CoA thiolase deficiency.
Source: Regenstrief LOINC
Observation Required in Panel
Conditional
Type of Entry
Question expects user entry - requires response [Q]
Fully-Specified Name
- Component
- 3-Hydroxyoctanoylcarnitine (C8-OH)+Malonylcarnitine (C3-DC)
- Property
- SCnc
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- 3OHoctanoyl+Malonylcarn DBS-sCnc
- Display Name
- C8-OH+C3-DC (DBS) [Moles/Vol]
- Consumer Name Alpha Get Info
- C8-OH+C3-DC, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.24
- Last Updated
- Version 2.70
- Order vs. Observation
- Both
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 58092-8 | Acylcarnitine newborn screen panel |
| 53262-2 | Carnitine newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | 3-Hidroxioctanoilcarnitina (C8-OH)+Malonilcarnitina (C3-DC): Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | 3-hidroxioctanoilcarnitina (C8-OH) + malonilcarnitina (C3-DC): |
| et-EE | Estonian (Estonia) | 3-hüdroksüoktanoüülkarnitiin (C8-OH) + malonüülkarnitiin (C3-DC): Synonyms: Aine kontsentratsioon Juhuslik Kvantitatiivne Veri |
| fr-CA | French (Canada) | 3-hydroxyoctanoylcarnitine (C8-OH)+ Malonylcarnitine (C3-DC): Synonyms: #REF! |
| fr-FR | French (France) | 3-hydroxyoctanoylcarnitine (C8-OH)+malonylcarnitine (C3-DC): |
| fr-BE | French (Belgium) | 3-Hydroxyoctanoylcarnitine (C8-OH)+Malonylcarnitine (C3-DC): |
| it-IT | Italian (Italy) | 3-Idrossiottanoilcarnitina (C8-OH)+Malonilcarnitina (C3-DC): Synonyms: Chimica Concentrazione di Sostanza Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | 3-hydroxyoctanoylcarnitine (C8-OH) + malonylcarnitine (C3-DC): |
| pt-BR | Portuguese (Brazil) | 3-Hidroxioctanoilcarnitina (C8-OH)+Malonilcarnitina (C3-DC): Synonyms: ; |
| ru-RU | Russian (Russian Federation) | 3-Гидроксиоктаноилкарнитин (C8-OH)+Малонилкарнитин (C3-DC): Synonyms: Количественный Кровь Кровь сухая капля Молярность; |
| tr-TR | Turkish (Turkey) | 3-Hidroksioktanoilkarnitin (C8-OH)+Malonylkarnitin (C3-DC): |
| zh-CN | Chinese (China) | 3-羟基辛酰基肉碱 (C8-OH)+丙二酰肉碱 (C3-DC): Synonyms: 3-羟基辛酰基肉碱（肉毒碱、 |
Example Units
| Unit | Source |
|---|---|
| umol/L | Example UCUM Units |
53402-4 3-Hydroxyoctanoylcarnitine (C8-OH)+Malonylcarnitine (C3-DC)/Butyrylcarnitine+Isobutyrylcarnitine (C4) [Molar ratio] in DBS
Part Descriptions
LP70084-6 3-Hydroxyoctanoylcarnitine (C8-OH)+Malonylcarnitine (C3-DC)
3-Hydroxyoctanoylcarnitine+Malonylcarnitine is a primary marker for Malonic acidemia and Medium-chain ketoacyl-CoA thiolase deficiency.
Source: Regenstrief LOINC
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- 3-Hydroxyoctanoylcarnitine (C8-OH)+Malonylcarnitine (C3-DC)/Butyrylcarnitine+Isobutyrylcarnitine (C4)
- Property
- SRto
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- 3OHoctanoyl+Malonylcarn/C4 DBS-sRto
- Display Name
- C8-OH+C3-DC/Butyrylcarnitine+Isobutyrylcarnitine (C4) (DBS) [Molar ratio]
- Consumer Name Alpha Get Info
- C8-OH+C3-DC/Butyrylcarnitine+Isobutyrylcarnitine (C4), Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.24
- Last Updated
- Version 2.70
- Order vs. Observation
- Observation
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 58092-8 | Acylcarnitine newborn screen panel |
| 53262-2 | Carnitine newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | 3-Hidroxioctanoilcarnitina (C8-OH)+Malonilcarnitina (C3-DC)/Butirilcarnitina + Isobutirilcarnitina (C4): Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | 3-hidroxioctanoilcarnitina (C8-OH) + malonilcarnitina (C3-DC) / butirilcarnitina + isobutirilcarnitina (C4): |
| fr-CA | French (Canada) | 3-hydroxyoctanoylcarnitine (C8-OH)+ Malonylcarnitine (C3-DC)/Butyrylcarnitine+Isobutyrylcarnitine (C4): Synonyms: #REF! |
| fr-FR | French (France) | 3-hydroxyoctanoylcarnitine (C8-OH)+malonylcarnitine (C3-DC)/butyrylcarnitine+isobutyrylcarnitine (C4): |
| fr-BE | French (Belgium) | 3-Hydroxyoctanoylcarnitine (C8-OH)+Malonylcarnitine (C3-DC)/Butyrylcarnitine+Isobutyrylcarnitine (C4): |
| it-IT | Italian (Italy) | 3-Idrossiottanoilcarnitina (C8-OH)+Malonilcarnitina (C3-DC)/Butirrilcarnitina+Isobutirrilcarnitina (C4): Synonyms: Chimica Punto nel tempo (episodio) Rapporto di sostanza Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | 3-hydroxyoctanoylcarnitine (C8-OH) + malonylcarnitine (C3-DC)/butyrylcarnitine + isobutyrylcarnitine (C4): |
| pt-BR | Portuguese (Brazil) | 3-Hidroxioctanoilcarnitina (C8-OH)+Malonilcarnitina (C3-DC)/Butirilcarnitina+Isobutirilcarnitina (C4): Synonyms: ; |
| ru-RU | Russian (Russian Federation) | 3-Гидроксиоктаноилкарнитин (C8-OH)+Малонилкарнитин (C3-DC)/Бутирилкарнитин+Изобутирилкарнитин (C4): Synonyms: Количественный Кровь Кровь сухая капля Мольная доля; |
| tr-TR | Turkish (Turkey) | 3-Hidroksioktanoilkarnitin (C8-OH)+Malonylkarnitin (C3-DC)/Bütirilkarnitin+izobütirilkarnitin (C4): Synonyms: SubsOranı |
| zh-CN | Chinese (China) | 3-羟基辛酰基肉碱 (C8-OH)+丙二酰肉碱 (C3-DC)/丁酰肉碱+异丁酰肉碱 (C4): Synonyms: 3-羟基辛酰基肉碱（肉毒碱、 |
Example Units
| Unit | Source |
|---|---|
| {Ratio} | Example UCUM Units |
53179-8 3-Hydroxyoctanoylcarnitine (C8-OH)+Malonylcarnitine (C3-DC)/Decanoylcarnitine (C10) [Molar ratio] in DBS
Term Description
3-Hydroxyoctanoylcarnitine+Malonylcarnitine/Decanoylcarnitine is a primary marker for Malonic acidemia and Medium-chain ketoacyl-CoA thiolase deficiency.
Source: Regenstrief LOINC
Part Descriptions
LP70084-6 3-Hydroxyoctanoylcarnitine (C8-OH)+Malonylcarnitine (C3-DC)
3-Hydroxyoctanoylcarnitine+Malonylcarnitine is a primary marker for Malonic acidemia and Medium-chain ketoacyl-CoA thiolase deficiency.
Source: Regenstrief LOINC
LP70167-9 Decanoylcarnitine (C10)
Decanoylcarnitine is a primary marker for Medium-chain acyl-CoA dehydrogenase deficiency and Glutaric acidemia type II. Secondary marker for Medium-chain ketoacyl-CoA thiolase deficiency.
Source: Regenstrief LOINC
Observation Required in Panel
Conditional
Type of Entry
Question expects user entry - requires response [Q]
Fully-Specified Name
- Component
- 3-Hydroxyoctanoylcarnitine (C8-OH)+Malonylcarnitine (C3-DC)/Decanoylcarnitine (C10)
- Property
- SRto
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- 3OHoctanoyl+Malonylcarn/C10 DBS-sRto
- Display Name
- C8-OH+C3-DC/Decanoylcarnitine (C10) (DBS) [Molar ratio]
- Consumer Name Alpha Get Info
- C8-OH+C3-DC/Decanoylcarnitine (C10), Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.24
- Last Updated
- Version 2.61
- Order vs. Observation
- Both
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 58092-8 | Acylcarnitine newborn screen panel |
| 53262-2 | Carnitine newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | 3-Hidroxioctanoilcarnitina (C8-OH)+Malonilcarnitina (C3-DC)/Decanoilcarnitina (C10): Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | 3-hidroxioctanoilcarnitina (C8-OH) + malonilcarnitina (C3-DC) / decanoilcarnitina (C10): |
| fr-CA | French (Canada) | 3-hydroxyoctanoylcarnitine (C8-OH)+ Malonylcarnitine (C3-DC)/Décanoylcarnitine (C10): Synonyms: #REF! |
| fr-FR | French (France) | 3-hydroxyoctanoylcarnitine (C8-OH)+malonylcarnitine (C3-DC)/décanoylcarnitine (C10): |
| fr-BE | French (Belgium) | 3-Hydroxyoctanoylcarnitine (C8-OH)+Malonylcarnitine (C3-DC)/Décanoylcarnitine (C10): |
| it-IT | Italian (Italy) | 3-Idrossiottanoilcarnitina (C8-OH)+Malonilcarnitina (C3-DC)/Decanoilcarnitina (C10): Synonyms: Chimica Punto nel tempo (episodio) Rapporto di sostanza Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | 3-hydroxyoctanoylcarnitine (C8-OH) + malonylcarnitine (C3-DC)/decanoylcarnitine (C10): |
| pt-BR | Portuguese (Brazil) | 3-Hidroxioctanoilcarnitina (C8-OH)+Malonilcarnitina (C3-DC)/Decanoilcarnitina (C10): Synonyms: ; |
| ru-RU | Russian (Russian Federation) | 3-Гидроксиоктаноилкарнитин (C8-OH)+Малонилкарнитин (C3-DC)/Деканоилкарнитин (C10): Synonyms: Количественный Кровь Кровь сухая капля Мольная доля; |
| tr-TR | Turkish (Turkey) | 3-Hidroksioktanoilkarnitin (C8-OH)+Malonylkarnitin (C3-DC)/Dekanoilkarnitin (C10): Synonyms: SubsOranı |
| zh-CN | Chinese (China) | 3-羟基辛酰基肉碱 (C8-OH)+丙二酰肉碱 (C3-DC)/癸酰肉碱 (C10): Synonyms: 3-羟基辛酰基肉碱（肉毒碱、 |
Example Units
| Unit | Source |
|---|---|
| {Ratio} | Example UCUM Units |
45222-7 Methylmalonylcarnitine (C4-DC) [Moles/volume] in DBS
Part Descriptions
LP19311-7 Methylmalonylcarnitine (C4-DC)
Methylmalonylcarnitine is a primary marker for Succinyl-CoA ligase deficiency. Secondary marker for Methylmalonic acidemia (mut), Methylmalonic acidemia (Cbl A, B), Methylmalonic aciduria and homocystinuria.
Source: Regenstrief Institute
Observation Required in Panel
Conditional
Type of Entry
Question expects user entry - requires response [Q]
Fully-Specified Name
- Component
- Methylmalonylcarnitine (C4-DC)
- Property
- SCnc
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- Me-malonylcarn DBS-sCnc
- Display Name
- C4-DC (DBS) [Moles/Vol]
- Consumer Name Alpha Get Info
- C4-DC, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.17
- Last Updated
- Version 2.73
- Order vs. Observation
- Both
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 58092-8 | Acylcarnitine newborn screen panel |
| 53262-2 | Carnitine newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Metilmalonilcarnitina (C4-DC): Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Metilmalonilcarnitina (C4-DC): |
| et-EE | Estonian (Estonia) | Metüülmalonüülkarnitiin (C4-DC): Synonyms: Aine kontsentratsioon Juhuslik Kvantitatiivne Veri |
| fr-CA | French (Canada) | Méthylmalonylcarnitine (C4-DC): |
| fr-FR | French (France) | Méthylmalonylcarnitine (C4-DC): |
| fr-BE | French (Belgium) | Méthylmalonylcarnitine (C4-DC): |
| it-IT | Italian (Italy) | Metilmalonilcarnitina (C4-DC): Synonyms: Chimica Concentrazione di Sostanza Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | methylmalonylcarnitine (C4-DC): |
| pt-BR | Portuguese (Brazil) | Metilmalonilcarnitina (C4-DC): Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Метилмалонилкарнитин (C4-DC): Synonyms: Количественный Кровь Кровь сухая капля Молярность; |
| tr-TR | Turkish (Turkey) | Metilmalonilkarnitin (C4-DC): |
| zh-CN | Chinese (China) | 甲基丙二酰肉碱 (C4-DC): Synonyms: 克分子浓度; |
Example Units
| Unit | Source |
|---|---|
| umol/L | Example UCUM Units |
67709-6 Methylmalonylcarnitine (C4-DC)+3-Hydroxyisovalerylcarnitine (C5-OH) [Moles/volume] in DBS
Term Description
This analyte is measured using the non-derivatized tandem mass spectrometry (MS/MS) method and is not measured when using the derivatized reagents. When using the derivatized reagents, it will instead be measured as two separate analytes C4-DC [LOINC: 45222-7] and C5-OH [LOINC: 50106-4]. A different LOINC code is used for the derivatized or non-derivatized method because based on the reagents used in processing, different sets of analytes become isobaric, which means that they cannot be distinguished on the MS/MS because they have the same molecular weight after reagent processing.
Source: Regenstrief LOINC
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Methylmalonylcarnitine (C4-DC)+3-Hydroxyisovalerylcarnitine (C5-OH)
- Property
- SCnc
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- C4-DC+C5-OH DBS-sCnc
- Display Name
- C4-DC+C5-OH (DBS) [Moles/Vol]
- Consumer Name Alpha Get Info
- C4-DC+C5-OH, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.38
- Last Updated
- Version 2.73
- Order vs. Observation
- Both
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 58092-8 | Acylcarnitine newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Metilmalonilcarnitina (C4-DC)+3-Hidroxiisovalerilcarnitina (C5-OH): Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Metilmalonilcarnitina (C4-DC) + 3-Hidroxiisovalerilcarnitina (C5-OH): |
| fr-CA | French (Canada) | Méthylmalonylcarnitine (C4-DC)+3-hydroxyisovalérylcarnitine (C5-OH): |
| fr-FR | French (France) | Méthylmalonylcarnitine (C4-DC)+3-hydroxyisovalerylcarnitine (C5-OH): |
| it-IT | Italian (Italy) | Metilmalonilcarnitina (C4-DC)+3-Idrossiisovalerilcarnitina (C5-OH): Synonyms: Chimica Concentrazione di Sostanza Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | methylmalonylcarnitine (C4-DC) + 3-hydroxyisovalerylcarnitine (C5-OH): |
| ru-RU | Russian (Russian Federation) | Метилмалонилкарнитин (C4-DC)+3-Гидроксиизовалерилкарнитин (C5-OH): Synonyms: Количественный Кровь Кровь сухая капля Молярность; |
| tr-TR | Turkish (Turkey) | Metilmalonilkarnitin (C4-DC)+3-Hidroksiizovalerilkarnitin (C5-OH): |
| zh-CN | Chinese (China) | 甲基丙二酰肉碱 (C4-DC)+3-羟基异戊酰肉碱 (C5-OH): Synonyms: 3-羟基异戊酰肉碱（肉毒碱、 |
Example Units
| Unit | Source |
|---|---|
| umol/L | Example UCUM Units |
53181-4 Methylmalonylcarnitine (C4-DC)/3-Hydroxyisovalerylcarnitine (C5-OH) [Molar ratio] in DBS
Term Description
Methylmalonylcarnitine/3-Hydroxyisovalerylcarnitine is a primary marker for Succinyl-CoA ligase deficiency. Secondary marker for Methylmalonic acidemia (mut), Methylmalonic acidemia (Cbl A, B), Methylmalonic aciduria and homocystinuria.
Source: Regenstrief LOINC
Part Descriptions
LP19311-7 Methylmalonylcarnitine (C4-DC)
Methylmalonylcarnitine is a primary marker for Succinyl-CoA ligase deficiency. Secondary marker for Methylmalonic acidemia (mut), Methylmalonic acidemia (Cbl A, B), Methylmalonic aciduria and homocystinuria.
Source: Regenstrief Institute
LP70356-8 3-Hydroxyisovalerylcarnitine (C5-OH)
3-Hydroxyisovalerylcarnitine is a primary marker for 3-Methylcrotonyl-CoA carboxylase deficiency, Beta-Ketothiolase deficiency, Multiple carboxylase deficiency, 3-Hydroxy-3-methylglutaric aciduria, 2-Methyl-3-hydroxybutyric aciduria, Maternal 3-Methylcrotonyl-CoA carboxylase deficiency, and 2-Methylbutyrylglycinuria.
Source: Regenstrief LOINC
Observation Required in Panel
Conditional
Type of Entry
Question expects user entry - requires response [Q]
Fully-Specified Name
- Component
- Methylmalonylcarnitine (C4-DC)/3-Hydroxyisovalerylcarnitine (C5-OH)
- Property
- SRto
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- Me-malonylcarn/C5OH DBS-sRto
- Display Name
- C4-DC/3-Hydroxyisovalerylcarnitine (C5-OH) (DBS) [Molar ratio]
- Consumer Name Alpha Get Info
- C4-DC/3-Hydroxyisovalerylcarnitine (C5-OH), Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.24
- Last Updated
- Version 2.73
- Order vs. Observation
- Both
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 58092-8 | Acylcarnitine newborn screen panel |
| 53262-2 | Carnitine newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Metilmalonilcarnitina (C4-DC)/3-Hidroxiisovalerilcarnitina (C5-OH): Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Metilmalonilcarnitina (C4-DC) / 3-hidroxiisovalerilcarnitina (C5-OH): |
| fr-CA | French (Canada) | Méthylmalonylcarnitine (C4-DC)/3-hydroxyisovalérylcarnitine (C5-OH): |
| fr-FR | French (France) | Méthylmalonylcarnitine (C4-DC)/3-hydroxyisovalérylcarnitine (C5-OH): |
| fr-BE | French (Belgium) | Méthylmalonylcarnitine (C4-DC)/3-hydroxyisovalérylcarnitine (C5-OH): |
| it-IT | Italian (Italy) | Metilmalonilcarnitina (C4-DC)/3-Idrossiisovalerilcarnitina (C5-OH): Synonyms: Chimica Punto nel tempo (episodio) Rapporto di sostanza Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | methylmalonylcarnitine (C4-DC)/3-hydroxyisovalerylcarnitine (C5-OH): |
| pt-BR | Portuguese (Brazil) | 3-Hidroxisovalerilcarnitina (C5-OH): Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Метилмалонилкарнитин (C4-DC)/3-Гидроксиизовалерилкарнитин (C5-OH): Synonyms: Количественный Кровь Кровь сухая капля Мольная доля; |
| tr-TR | Turkish (Turkey) | Metilmalonilkarnitin (C4-DC)/3-Hidroksiizovalerilkarnitin (C5-OH): Synonyms: SubsOranı |
| zh-CN | Chinese (China) | 甲基丙二酰肉碱 (C4-DC)/3-羟基异戊酰肉碱 (C5-OH): Synonyms: 3-羟基异戊酰肉碱（肉毒碱、 |
Example Units
| Unit | Source |
|---|---|
| {Ratio} | Example UCUM Units |
53183-0 Glutarylcarnitine (C5-DC)+3-Hydroxydecanoylcarnitine (C10-OH) [Moles/volume] in DBS
Part Descriptions
LP66334-1 Glutarylcarnitine (C5-DC)+3-Hydroxydecanoylcarnitine (C10-OH)
Glutarylcarnitine+3-Hydroxydecanoylcarnitine is a primary marker for Glutaric acidemia type I and Glutaric acidemia type II. Secondary marker for Maternal glutaric acidemia type I.
Source: Regenstrief LOINC
Observation Required in Panel
Conditional
Type of Entry
Question expects user entry - requires response [Q]
Fully-Specified Name
- Component
- Glutarylcarnitine (C5-DC)+3-Hydroxydecanoylcarnitine (C10-OH)
- Property
- SCnc
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- Glut+3OHdecanoylcarn DBS-sCnc
- Display Name
- C5-DC+C10-OH (DBS) [Moles/Vol]
- Consumer Name Alpha Get Info
- C5-DC+C10-OH, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.24
- Last Updated
- Version 2.73
- Order vs. Observation
- Both
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 58092-8 | Acylcarnitine newborn screen panel |
| 53262-2 | Carnitine newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Glutarilcarnitina+3-Hidroxidecanoilcarnitina: Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Glutarilcarnitina (C5-DC) + 3-Hidroxidocanoilcarnitina (C10-OH): |
| et-EE | Estonian (Estonia) | Glutarüülkarnitiin (C5-DC) + 3-hüdroksüdekanoüülkarnitiin (C10-OH): Synonyms: Aine kontsentratsioon Juhuslik Kvantitatiivne Veri |
| fr-CA | French (Canada) | Glutarylcarnitine (C5-DC)+ 3-hydroxydécanoylcarnitine (C10-OH): |
| fr-FR | French (France) | Glutarylcarnitine (C5-DC)+3-hydroxydécanoylcarnitine (C10-OH): |
| fr-BE | French (Belgium) | Glutarylcarnitine (C5-DC)+3-Hydroxydecanoylcarnitine (C10-OH): |
| it-IT | Italian (Italy) | Glutarilcarnitina (C5-DC)+3-Idrossidecanoilcarnitina (C10-OH): Synonyms: Chimica Concentrazione di Sostanza Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | glutarylcarnitine (C5-DC) + 3-hydroxydecanoylcarnitine (C10-OH): |
| pt-BR | Portuguese (Brazil) | Glutarilcarnitina (C5-DC)+3-Hidroxidecanoilcarnitina (C10-OH): Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Глутарилкарнитин (C5-DC)+3-Гидроксидканоилкарнитин (C10-OH): Synonyms: Количественный Кровь Кровь сухая капля Молярность; |
| tr-TR | Turkish (Turkey) | Glutarilkarnitin (C5-DC)+3-Hidroksidekanoilkarnitin (C10-OH): |
| zh-CN | Chinese (China) | 戊二酰肉碱 (C5-DC)+3-羟癸酰肉碱 (C10-OH): Synonyms: 3-羟癸酰肉碱（肉毒碱、 |
Example Units
| Unit | Source |
|---|---|
| umol/L | Example UCUM Units |
53403-2 Glutarylcarnitine (C5-DC)+3-Hydroxydecanoylcarnitine (C10-OH)/Butyrylcarnitine+Isobutyrylcarnitine (C4) [Molar ratio] in DBS
Part Descriptions
LP66334-1 Glutarylcarnitine (C5-DC)+3-Hydroxydecanoylcarnitine (C10-OH)
Glutarylcarnitine+3-Hydroxydecanoylcarnitine is a primary marker for Glutaric acidemia type I and Glutaric acidemia type II. Secondary marker for Maternal glutaric acidemia type I.
Source: Regenstrief LOINC
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Glutarylcarnitine (C5-DC)+3-Hydroxydecanoylcarnitine (C10-OH)/Butyrylcarnitine+Isobutyrylcarnitine (C4)
- Property
- SRto
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- Glut+3OHdecanoylcarn/C4 DBS-sRto
- Display Name
- C5-DC+C10-OH/Butyrylcarnitine+Isobutyrylcarnitine (C4) (DBS) [Molar ratio]
- Consumer Name Alpha Get Info
- C5-DC+C10-OH/Butyrylcarnitine+Isobutyrylcarnitine (C4), Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.24
- Last Updated
- Version 2.73
- Order vs. Observation
- Observation
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 58092-8 | Acylcarnitine newborn screen panel |
| 53262-2 | Carnitine newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Glutarilcarnitina+3-Hidroxidecanoilcarnitina/Butirilcarnitina + Isobutirilcarnitina (C4): Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Glutarilcarnitina (C5-DC) + 3-Hidroxidocanoilcarnitina (C10-OH) / Butirilcarnitina + Isobutirilcarnitina (C4): |
| fr-CA | French (Canada) | Glutarylcarnitine (C5-DC)+ 3-hydroxydécanoylcarnitine (C10-OH)/Butyrylcarnitine+Isobutyrylcarnitine (C4): |
| fr-FR | French (France) | Glutarylcarnitine (C5-DC)+3-hydroxydécanoylcarnitine (C10-OH)/butyrylcarnitine+Isobutyrylcarnitine (C4): |
| fr-BE | French (Belgium) | Glutarylcarnitine (C5-DC)+3-Hydroxydecanoylcarnitine (C10-OH)/Butyrylcarnitine+Isobutyrylcarnitine (C4): |
| it-IT | Italian (Italy) | Glutarilcarnitina (C5-DC)+3-Idrossidecanoilcarnitina (C10-OH)/Butirrilcarnitina+Isobutirrilcarnitina (C4): Synonyms: Chimica Punto nel tempo (episodio) Rapporto di sostanza Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | glutarylcarnitine (C5-DC) + 3-hydroxydecanoylcarnitine (C10-OH)/butyrylcarnitine + isobutyrylcarnitine (C4): |
| pt-BR | Portuguese (Brazil) | Glutarilcarnitina (C5-DC)+3-Hidroxidecanoilcarnitina (C10-OH)/Butirilcarnitina+Isobutirilcarnitina (C4): Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Глутарилкарнитин (C5-DC)+3-Гидроксидканоилкарнитин (C10-OH)/Бутирилкарнитин+Изобутирилкарнитин (C4): Synonyms: Количественный Кровь Кровь сухая капля Мольная доля; |
| tr-TR | Turkish (Turkey) | Glutarilkarnitin (C5-DC)+3-Hidroksidekanoilkarnitin (C10-OH)/Bütirilkarnitin+izobütirilkarnitin (C4): Synonyms: SubsOranı |
| zh-CN | Chinese (China) | 戊二酰肉碱 (C5-DC)+3-羟癸酰肉碱 (C10-OH)/丁酰肉碱+异丁酰肉碱 (C4): Synonyms: 3-羟癸酰肉碱（肉毒碱、 |
Example Units
| Unit | Source |
|---|---|
| {Ratio} | Example UCUM Units |
53184-8 Glutarylcarnitine (C5-DC)+3-Hydroxydecanoylcarnitine (C10-OH)/3-Hydroxyisovalerylcarnitine (C5-OH) [Molar ratio] in DBS
Term Description
Glutarylcarnitine+3-Hydroxydecanoylcarnitine/3-Hydroxyisovalerylcarnitine is a primary marker for Glutaric acidemia type I and Glutaric acidemia type II Secondary marker for Maternal glutaric acidemia type I.
Source: Regenstrief LOINC
Part Descriptions
LP66334-1 Glutarylcarnitine (C5-DC)+3-Hydroxydecanoylcarnitine (C10-OH)
Glutarylcarnitine+3-Hydroxydecanoylcarnitine is a primary marker for Glutaric acidemia type I and Glutaric acidemia type II. Secondary marker for Maternal glutaric acidemia type I.
Source: Regenstrief LOINC
LP70356-8 3-Hydroxyisovalerylcarnitine (C5-OH)
3-Hydroxyisovalerylcarnitine is a primary marker for 3-Methylcrotonyl-CoA carboxylase deficiency, Beta-Ketothiolase deficiency, Multiple carboxylase deficiency, 3-Hydroxy-3-methylglutaric aciduria, 2-Methyl-3-hydroxybutyric aciduria, Maternal 3-Methylcrotonyl-CoA carboxylase deficiency, and 2-Methylbutyrylglycinuria.
Source: Regenstrief LOINC
Observation Required in Panel
Conditional
Type of Entry
Question expects user entry - requires response [Q]
Fully-Specified Name
- Component
- Glutarylcarnitine (C5-DC)+3-Hydroxydecanoylcarnitine (C10-OH)/3-Hydroxyisovalerylcarnitine (C5-OH)
- Property
- SRto
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- Glut+3OHdecanoylcarn/C5OH DBS-sRto
- Display Name
- C5-DC+C10-OH/3-Hydroxyisovalerylcarnitine (C5-OH) (DBS) [Molar ratio]
- Consumer Name Alpha Get Info
- C5-DC+C10-OH/3-Hydroxyisovalerylcarnitine (C5-OH), Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.24
- Last Updated
- Version 2.73
- Order vs. Observation
- Both
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 58092-8 | Acylcarnitine newborn screen panel |
| 53262-2 | Carnitine newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Glutarilcarnitina+3-Hidroxidecanoilcarnitina/3-Hidroxiisovalerilcarnitina (C5-OH): Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Glutarilcarnitina (C5-DC) + 3-Hidroxidocanoilcarnitina (C10-OH) / 3-Hidroxiisovalerilcarnitina (C5-OH): |
| fr-CA | French (Canada) | Glutarylcarnitine (C5-DC)+ 3-hydroxydécanoylcarnitine (C10-OH)/3-hydroxyisovalérylcarnitine (C5-OH): |
| fr-FR | French (France) | Glutarylcarnitine (C5-DC)+3-hydroxydécanoylcarnitine (C10-OH)/3-hydroxyisovalérylcarnitine (C5-OH): |
| fr-BE | French (Belgium) | Glutarylcarnitine (C5-DC)+3-Hydroxydecanoylcarnitine (C10-OH)/3-hydroxyisovalérylcarnitine (C5-OH): |
| it-IT | Italian (Italy) | Glutarilcarnitina (C5-DC)+3-Idrossidecanoilcarnitina (C10-OH)/3-Idrossiisovalerilcarnitina (C5-OH): Synonyms: Chimica Punto nel tempo (episodio) Rapporto di sostanza Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | glutarylcarnitine (C5-DC) + 3-hydroxydecanoylcarnitine (C10-OH)/3-hydroxyisovalerylcarnitine (C5-OH): |
| pt-BR | Portuguese (Brazil) | Glutarilcarnitina (C5-DC)+3-Hidroxidecanoilcarnitina (C10-OH)/3-Hidroxisovalerilcarnitina (C5-OH): Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Глутарилкарнитин (C5-DC)+3-Гидроксидканоилкарнитин (C10-OH)/3-Гидроксиизовалерилкарнитин (C5-OH): Synonyms: Количественный Кровь Кровь сухая капля Мольная доля; |
| tr-TR | Turkish (Turkey) | Glutarilkarnitin (C5-DC)+3-Hidroksidekanoilkarnitin (C10-OH)/3-Hidroksiizovalerilkarnitin (C5-OH): Synonyms: SubsOranı |
| zh-CN | Chinese (China) | 戊二酰肉碱 (C5-DC)+3-羟癸酰肉碱 (C10-OH)/3-羟基异戊酰肉碱 (C5-OH): Synonyms: 3-羟基异戊酰肉碱（肉毒碱、 |
Example Units
| Unit | Source |
|---|---|
| {Ratio} | Example UCUM Units |
53185-5 Glutarylcarnitine (C5-DC)+3-Hydroxydecanoylcarnitine (C10-OH)/Octanoylcarnitine (C8) [Molar ratio] in DBS
Term Description
Glutarylcarnitine+3-Hydroxydecanoylcarnitine/Octanoylcarnitine is a primary marker for Very long-chain acyl-CoA dehydrogenase deficiency.
Source: Regenstrief LOINC
Part Descriptions
LP66334-1 Glutarylcarnitine (C5-DC)+3-Hydroxydecanoylcarnitine (C10-OH)
Glutarylcarnitine+3-Hydroxydecanoylcarnitine is a primary marker for Glutaric acidemia type I and Glutaric acidemia type II. Secondary marker for Maternal glutaric acidemia type I.
Source: Regenstrief LOINC
LP70166-1 Octanoylcarnitine (C8)
Octanoylcarnitine is a primary marker for Medium-chain acyl-CoA dehydrogenase deficiency, Glutaric acidemia type II and Medium-chain ketoacyl-CoA thiolase deficiency.
Source: Regenstrief LOINC
Observation Required in Panel
Conditional
Type of Entry
Question expects user entry - requires response [Q]
Fully-Specified Name
- Component
- Glutarylcarnitine (C5-DC)+3-Hydroxydecanoylcarnitine (C10-OH)/Octanoylcarnitine (C8)
- Property
- SRto
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- Glut+3OHdecanoylcarn/C8 DBS-sRto
- Display Name
- C5-DC+C10-OH/Octanoylcarnitine (C8) (DBS) [Molar ratio]
- Consumer Name Alpha Get Info
- C5-DC+C10-OH/Octanoylcarnitine (C8), Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.24
- Last Updated
- Version 2.73
- Order vs. Observation
- Both
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 58092-8 | Acylcarnitine newborn screen panel |
| 53262-2 | Carnitine newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Glutarilcarnitina+3-Hidroxidecanoilcarnitina/Octanoilcarnitina (C8): Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Glutarilcarnitina (C5-DC) + 3-hidroxidocanoilcarnitina (C10-OH) / octanoilcarnitina (C8): |
| fr-CA | French (Canada) | Glutarylcarnitine (C5-DC)+ 3-hydroxydécanoylcarnitine (C10-OH)/Octanoylcarnitine (C8): |
| fr-FR | French (France) | Glutarylcarnitine (C5-DC)+3-hydroxydécanoylcarnitine (C10-OH)/octanoylcarnitine (C8): |
| fr-BE | French (Belgium) | Glutarylcarnitine (C5-DC)+3-Hydroxydecanoylcarnitine (C10-OH)/Octanoylcarnitine (C8): |
| it-IT | Italian (Italy) | Glutarilcarnitina (C5-DC)+3-Idrossidecanoilcarnitina (C10-OH)/Octanoilcarnitina (C8): Synonyms: Chimica Punto nel tempo (episodio) Rapporto di sostanza Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | glutarylcarnitine (C5-DC) + 3-hydroxydecanoylcarnitine (C10-OH)/octanoylcarnitine (C8): |
| pt-BR | Portuguese (Brazil) | Glutarilcarnitina (C5-DC)+3-Hidroxidecanoilcarnitina (C10-OH)/Octanoilcarnitina (C8): Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Глутарилкарнитин (C5-DC)+3-Гидроксидканоилкарнитин (C10-OH)/Октаноилкарнитин (C8): Synonyms: Количественный Кровь Кровь сухая капля Мольная доля; |
| tr-TR | Turkish (Turkey) | Glutarilkarnitin (C5-DC)+3-Hidroksidekanoilkarnitin (C10-OH)/Oktanoilkarnitin (C8): Synonyms: SubsOranı |
| zh-CN | Chinese (China) | 戊二酰肉碱 (C5-DC)+3-羟癸酰肉碱 (C10-OH)/辛酰肉碱 (C8): Synonyms: 3-羟癸酰肉碱（肉毒碱、 |
Example Units
| Unit | Source |
|---|---|
| {Ratio} | Example UCUM Units |
53186-3 Glutarylcarnitine (C5-DC)+3-Hydroxydecanoylcarnitine (C10-OH)/Palmitoylcarnitine (C16) [Molar ratio] in DBS
Term Description
Glutarylcarnitine+3-Hydroxydecanoylcarnitine/Palmitoylcarnitine is a primary marker for Very long-chain acyl-CoA dehydrogenase deficiency. Secondary marker for Long-chain L-3-Hydroxy dehydrogenase deficiency, and Trifunctional protein deficiency.
Source: Regenstrief LOINC
Part Descriptions
LP66334-1 Glutarylcarnitine (C5-DC)+3-Hydroxydecanoylcarnitine (C10-OH)
Glutarylcarnitine+3-Hydroxydecanoylcarnitine is a primary marker for Glutaric acidemia type I and Glutaric acidemia type II. Secondary marker for Maternal glutaric acidemia type I.
Source: Regenstrief LOINC
LP70162-0 Palmitoylcarnitine (C16)
Palmitoylcarnitine is a primary marker for Very long-chain acyl-CoA dehydrogenase deficiency, Long-chain L-3-Hydroxy dehydrogenase deficiency, Trifunctional protein deficiency, Carnitine palmitoyltransferase I deficiency, Carnitine acylcarnitine translocase deficiency, and Carnitine palmitoyltransferase II deficiency. Secondary marker for Carnitine uptake defect.
Source: Regenstrief LOINC
Observation Required in Panel
Conditional
Type of Entry
Question expects user entry - requires response [Q]
Fully-Specified Name
- Component
- Glutarylcarnitine (C5-DC)+3-Hydroxydecanoylcarnitine (C10-OH)/Palmitoylcarnitine (C16)
- Property
- SRto
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- Glut+3OHdecanoylcarn/C16 DBS-sRto
- Display Name
- C5-DC+C10-OH/Palmitoylcarnitine (C16) (DBS) [Molar ratio]
- Consumer Name Alpha Get Info
- C5-DC+C10-OH/Palmitoylcarnitine (C16), Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.24
- Last Updated
- Version 2.73
- Order vs. Observation
- Both
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 58092-8 | Acylcarnitine newborn screen panel |
| 53262-2 | Carnitine newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Glutarilcarnitina+3-Hidroxidecanoilcarnitina/Palmitoilcarnitina (C16): Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Glutarilcarnitina (C5-DC) + 3-Hidroxidocanoilcarnitina (C10-OH) / Palmitoilcarnitina (C16): |
| fr-CA | French (Canada) | Glutarylcarnitine (C5-DC)+ 3-hydroxydécanoylcarnitine (C10-OH)/Palmitoylcarnitine (C16): |
| fr-FR | French (France) | Glutarylcarnitine (C5-DC)+3-hydroxydécanoylcarnitine (C10-OH)/palmitoylcarnitine (C16): |
| fr-BE | French (Belgium) | Glutarylcarnitine (C5-DC)+3-Hydroxydecanoylcarnitine (C10-OH)/Palmitoylcarnitine (C16): |
| it-IT | Italian (Italy) | Glutarilcarnitina (C5-DC)+3-Idrossidecanoilcarnitina (C10-OH)/Palmitoilcarnitina (C16): Synonyms: Chimica Punto nel tempo (episodio) Rapporto di sostanza Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | glutarylcarnitine (C5-DC) + 3-hydroxydecanoylcarnitine (C10-OH)/palmitoylcarnitine (C16): |
| pt-BR | Portuguese (Brazil) | Glutarilcarnitina (C5-DC)+3-Hidroxidecanoilcarnitina (C10-OH)/Palmitoilcarnitina (C16): Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Глутарилкарнитин (C5-DC)+3-Гидроксидканоилкарнитин (C10-OH)/Пальмитоилкарнитин (C16): Synonyms: Количественный Кровь Кровь сухая капля Мольная доля; |
| tr-TR | Turkish (Turkey) | Glutarilkarnitin (C5-DC)+3-Hidroksidekanoilkarnitin (C10-OH)/Palmitoilkarnitin (C16): Synonyms: SubsOranı |
| zh-CN | Chinese (China) | 戊二酰肉碱 (C5-DC)+3-羟癸酰肉碱 (C10-OH)/棕榈酰肉碱 (C16): Synonyms: 3-羟癸酰肉碱（肉毒碱、 |
Example Units
| Unit | Source |
|---|---|
| {Ratio} | Example UCUM Units |
53187-1 Methylglutarylcarnitine (C6-DC) [Moles/volume] in DBS
Part Descriptions
LP69348-8 Methylglutarylcarnitine (C6-DC)
Methylglutarylcarnitine is a primary marker for is a secondary marker for Very long-chain acyl-CoA dehydrogenase deficiency.
Source: Regenstrief LOINC
Observation Required in Panel
Conditional
Type of Entry
Question expects user entry - requires response [Q]
Fully-Specified Name
- Component
- Methylglutarylcarnitine (C6-DC)
- Property
- SCnc
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- MeGlutarylcarn DBS-sCnc
- Display Name
- Methylglutarylcarnitine (C6-DC) (DBS) [Moles/Vol]
- Consumer Name Alpha Get Info
- Methylglutarylcarnitine (C6-DC), Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.24
- Last Updated
- Version 2.73
- Order vs. Observation
- Both
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 58092-8 | Acylcarnitine newborn screen panel |
| 53262-2 | Carnitine newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Metilglutarilcarnitina (C6-DC): Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Metilglutarilcarnitina (C6-DC): |
| et-EE | Estonian (Estonia) | Metüülglutarüülkarnitiin (C6-DC): Synonyms: Aine kontsentratsioon Juhuslik Kvantitatiivne Veri |
| fr-CA | French (Canada) | Méthylglutarylcarnitine (C6-DC): |
| fr-FR | French (France) | Méthylglutarylcarnitine (C6-DC): |
| fr-BE | French (Belgium) | Méthylglutarylcarnitine (C6-DC): |
| it-IT | Italian (Italy) | Metilglutarilcarnitina (C6-DC): Synonyms: Chimica Concentrazione di Sostanza Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | methylglutarylcarnitine (C6-DC): |
| pt-BR | Portuguese (Brazil) | Metilglutarilcarnitina (C6-DC): Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Метилглутарилкарнитин (C6-DC): Synonyms: Количественный Кровь Кровь сухая капля Молярность; |
| tr-TR | Turkish (Turkey) | Metilglutarilkarnitin (C6-DC): |
| zh-CN | Chinese (China) | 甲基戊二酰肉碱 (C6-DC): Synonyms: 克分子浓度; |
Example Units
| Unit | Source |
|---|---|
| umol/L | Example UCUM Units |
53165-7 Formiminoglutamate [Moles/volume] in DBS
Part Descriptions
LP70083-8 Formiminoglutamate
Formiminoglutamic acid (FIGLU) is an intermediate in the metabolism of histidine. The "FIGLU" test is used to identify deficiency of vitamin B12 or folate deficiency or liver disease.
Copyright Text is available under the Creative Commons Attribution/Share-Alike License. See http://creativecommons.org/licenses/by-sa/3.0/ for details.
Source: Wikipedia, Wikipedia
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Formiminoglutamate
- Property
- SCnc
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- Formiminoglutamate DBS-sCnc
- Display Name
- Formiminoglutamate (DBS) [Moles/Vol]
- Consumer Name Alpha Get Info
- Formiminoglutamate, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.24
- Last Updated
- Version 2.70
- Order vs. Observation
- Both
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 58092-8 | Acylcarnitine newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Formiminoglutamato: Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Formiminoglutamato: |
| et-EE | Estonian (Estonia) | Formiminoglutamaat: Synonyms: Aine kontsentratsioon Juhuslik Kvantitatiivne Veri |
| fr-FR | French (France) | Formiminoglutamate: |
| fr-BE | French (Belgium) | Formiminoglutamate: |
| it-IT | Italian (Italy) | Formiminoglutammato: Synonyms: Chimica Concentrazione di Sostanza Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | formiminoglutamaat: |
| pt-BR | Portuguese (Brazil) | Formiminoglutamato: Synonyms: FIGLU; |
| ru-RU | Russian (Russian Federation) | Формиминоглутамат: Synonyms: Количественный Кровь Кровь сухая капля Молярность; |
| tr-TR | Turkish (Turkey) | Formiminoglutamat: |
| zh-CN | Chinese (China) | 亚胺甲基谷氨酸: Synonyms: 亚胺甲基麸氨酸 克分子浓度; |
Example Units
| Unit | Source |
|---|---|
| umol/L | Example UCUM Units |
54078-1 Cystic fibrosis newborn screening panel
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Cystic fibrosis newborn screening panel
- Property
- -
- Time
- Pt
- System
- ^Patient
- Scale
- -
- Method
Additional Names
- Short Name
- NB pnl CF Patient
- Display Name
- Cystic fibrosis NBS panel
- Consumer Name Alpha Get Info
- Cystic Fibrosis NBS Panel
Basic Attributes
- Class
- PANEL.CHEM
- Type
- Laboratory
- First Released
- Version 2.26
- Last Updated
- Version 2.77
- Order vs. Observation
- Order
- Common Test Rank Get Info
- 8535
- Panel Type
- Panel
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Panel de cribado neonatal fibrosis quística: |
| es-MX | Spanish (Mexico) | Panel de cribado neonatal de fibrosis quística: |
| fr-FR | French (France) | Fibrose kystique dépistage néonatal panel: |
| fr-BE | French (Belgium) | Panel screening nouveau-né mucoviscidose: |
| it-IT | Italian (Italy) | Fibrosi cistica, panel screening neonatale: Synonyms: Chimica Panel screening neonatale Panel screening neonatale per fibrosi cistica paziente Punto nel tempo (episodio) Set di prescrizione chimica |
| nl-NL | Dutch (Netherlands) | cystische fibrose pasgeborene screening panel: Synonyms: cystic fibrosis; |
| pt-BR | Portuguese (Brazil) | Recém nascido triagem fibrose cística painel: Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Кистозный фиброз новорождённый скрининг панель: Synonyms: Муковисцидоз Точка во времени; |
| zh-CN | Chinese (China) | 囊性纤维化新生儿筛查组套: Synonyms: Asympt CF; |
46769-6 Cystic fibrosis newborn screen interpretation
Part Descriptions
LP56779-9 Cystic fibrosis
An autosomal recessive genetic disease of the exocrine glands. It is caused by mutations in the gene encoding the cystic fibrosis transmembrane conductance regulator expressed in several organs including the lung, the pancreas, the biliary system, and the sweat glands. Cystic fibrosis is characterized by epithelial secretory dysfunction associated with ductal obstruction resulting in airway obstruction, chronic respiratory infections, pancreatic insufficiency, maldigestion, salt depletion, and heat prostration.
Source: National Library of Medicine, MeSH 2006
Observation Required in Panel
Required
Fully-Specified Name
- Component
- Cystic fibrosis
- Property
- Imp
- Time
- Pt
- System
- Bld.dot
- Scale
- Nom
- Method
Additional Names
- Short Name
- CF DBS-Imp
- Display Name
- Cystic fibrosis (DBS) [Interp]
- Consumer Name Alpha Get Info
- Cystic fibrosis, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.19
- Last Updated
- Version 2.73
- Change Reason
- Changed answer list from "Normative" to "Preferred" to fit the current LOINC model.
- Order vs. Observation
- Observation
- Common Test Rank Get Info
- 3938
Preferred Answer List LL840-0
| Answer | Code | Score | Answer ID |
|---|---|---|---|
| In range | LA18592-8 | ||
| Borderline | LA4259-3 | ||
| Indeterminate Copyright http://snomed.info/sct ID:82334004 Indeterminate (qualifier value) | LA11884-6 | ||
| Out of range | LA18593-6 | ||
| Out of range requiring further dried blood spot testing for at least one condition | LA12430-7 | ||
| Out of range requiring immediate referral | LA25817-0 | ||
| Out of range requiring immediate second-tier testing for at least one condition | LA12431-5 | ||
| Out of range requiring deferred follow-up for at least one condition | LA18594-4 | ||
| One or more tests pending | LA16204-2 | ||
| Specimen unsatisfactory for at least one condition | LA16205-9 |
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 54078-1 | Cystic fibrosis newborn screening panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Fibrosis quística: |
| es-MX | Spanish (Mexico) | Fibrosis quística: |
| fr-CA | French (Canada) | Mucovscidose: |
| fr-FR | French (France) | Fibrose kystique: |
| fr-BE | French (Belgium) | Mucovscidose: |
| it-IT | Italian (Italy) | Fibrosi cistica: Synonyms: Chimica Impressione/interpretazione di studio Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | cystische fibrose: Synonyms: cystic fibrosis; |
| pt-BR | Portuguese (Brazil) | Fibrose cística: Synonyms: Cystic fibr; |
| ru-RU | Russian (Russian Federation) | Кистозный фиброз: Synonyms: Впечатление/интерпретация исследования Кровь Кровь сухая капля Муковисцидоз Номинальный; |
| tr-TR | Turkish (Turkey) | Kistik fibrozis: |
| zh-CN | Chinese (China) | 囊性纤维化: Synonyms: CF; |
Third Party Copyright
This material includes SNOMED Clinical Terms® (SNOMED CT®) which is used by permission of the International Health Terminology Standards Development Organisation (IHTSDO) under license. All rights reserved. SNOMED CT® was originally created by The College of American Pathologists. "SNOMED" and "SNOMED CT" are registered trademarks of the IHTSDO.
This material includes content from the US Edition to SNOMED CT, which is developed and maintained by the U.S. National Library of Medicine and is available to authorized UMLS Metathesaurus Licensees from the UTS Downloads site at https://uts.nlm.nih.gov.
Use of SNOMED CT content is subject to the terms and conditions set forth in the SNOMED CT Affiliate License Agreement. It is the responsibility of those implementing this product to ensure they are appropriately licensed and for more information on the license, including how to register as an Affiliate Licensee, please refer to http://www.snomed.org/snomed-ct/get-snomed-ct or info@snomed.org<mailto:info@snomed.org>. This may incur a fee in SNOMED International non-Member countries.
57707-2 Cystic fibrosis newborn screening comment-discussion
Part Descriptions
LP56779-9 Cystic fibrosis
An autosomal recessive genetic disease of the exocrine glands. It is caused by mutations in the gene encoding the cystic fibrosis transmembrane conductance regulator expressed in several organs including the lung, the pancreas, the biliary system, and the sweat glands. Cystic fibrosis is characterized by epithelial secretory dysfunction associated with ductal obstruction resulting in airway obstruction, chronic respiratory infections, pancreatic insufficiency, maldigestion, salt depletion, and heat prostration.
Source: National Library of Medicine, MeSH 2006
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Cystic fibrosis newborn screening comment-discussion
- Property
- Txt
- Time
- Pt
- System
- Bld.dot
- Scale
- Nar
- Method
Additional Names
- Short Name
- CF NBS comment
- Display Name
- Cystic fibrosis newborn screening comment-discussion Nar (DBS)
- Consumer Name Alpha Get Info
- Cystic fibrosis newborn screening comment-discussion, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.29
- Last Updated
- Version 2.73
- Order vs. Observation
- Observation
- Common Test Rank Get Info
- 16265
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 54078-1 | Cystic fibrosis newborn screening panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Fibrosis quística screnning de recién nacidos comentario-discusión: |
| es-MX | Spanish (Mexico) | Comentario-discusión sobre el cribado neonatal de fibrosis quística: |
| fr-FR | French (France) | Fibrose kystique dépistage néonatal (commentaire-discussion): |
| fr-BE | French (Belgium) | Mucovscidose Commentaires.screening néonatal.discussion: |
| it-IT | Italian (Italy) | Fibrosi cistica, screening neonatale, commenti-discussione: Synonyms: Chimica Commento/discussione di screening neonatale per fibrosi cistica Punto nel tempo (episodio) Sangue Spot sangue secco Testo |
| nl-NL | Dutch (Netherlands) | cystische fibrose screening van pasgeborene commentaar-discussie: Synonyms: cystic fibrosis; |
| pt-BR | Portuguese (Brazil) | Fibrose cística na triagem neonatal comentários-discussão: Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Кистозный фиброз новорожденный скрининг комментарий-дискуссия: Synonyms: Кровь Кровь сухая капля Муковисцидоз Описательный Текст Точка во времени; |
| tr-TR | Turkish (Turkey) | Kistik fibrozis yenidoğan tarama öneri-tartışma: |
| zh-CN | Chinese (China) | 囊性纤维化 新生儿筛查注释-讨论: Synonyms: Asympt CF; |
54083-1 CFTR gene mutations found [Identifier] in DBS by Molecular genetics method Nominal
Part Descriptions
LP19684-7 CFTR gene
The CFTR gene (cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)) [HGNC Gene ID:1884] is located on chromosome 7q31.2. This gene encodes a member of the ATP-binding cassette (ABC) transporter superfamily. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MRP subfamily that is involved in multi-drug resistance. The encoded protein functions as a chloride channel and controls the regulation of other transport pathways. Mutations in this gene are associated with the autosomal recessive disorders cystic fibrosis and congenital bilateral aplasia of the vas deferens. Alternatively spliced transcript variants have been described, many of which result from mutations in this gene. [provided by RefSeq, Jul 2008] [NCBI Gene ID:1080]
Source: National Center for Biotechnology Information (NCBI) Gene
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- CFTR gene targeted mutation analysis
- Property
- Prid
- Time
- Pt
- System
- Bld.dot
- Scale
- Nom
- Method
- Molgen
Additional Names
- Short Name
- CFTR Mut Anl DBS
- Display Name
- CFTR gene targeted mutation analysis Molgen Nom (DBS)
- Consumer Name Alpha Get Info
- CFTR gene targeted mutation analysis, Dried blood spot
Basic Attributes
- Class
- MOLPATH.MUT
- Type
- Laboratory
- First Released
- Version 2.26
- Last Updated
- Version 2.73
- Change Reason
- Based on LOINC Committee review (June 2016), "targeted" was added to the Component to clarify that this test is looking for a specific set of mutations as described in the LOINC User Guide under the Molecular Genetics section.
- Order vs. Observation
- Both
- Common Test Rank Get Info
- 17117
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 54078-1 | Cystic fibrosis newborn screening panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Gen CFTR Analisis de mutaciones: |
| es-MX | Spanish (Mexico) | Análisis de mutaciones dirigidas al gen CFTR: |
| fr-FR | French (France) | CFTR gène mutation cible trouvée: |
| it-IT | Italian (Italy) | CFTR, gene analisi di mutazione mirata: Synonyms: Gene CFTR Genetica molecolare Mutazione genica Patologia molecolare Presenza o Identità Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | CFTR-gen doelgerichte mutatie-analyse: Synonyms: CFTR gen molgen targeted |
| pt-BR | Portuguese (Brazil) | CFTR análise de mutação do gene: Synonyms: Cystic fibrosis transmembrane conductance regulator; |
| ru-RU | Russian (Russian Federation) | CFTR ген исследование на мутацию: Synonyms: Кровь Кровь сухая капля Номинальный; |
| tr-TR | Turkish (Turkey) | CFTR geni Mutasyon analizi: |
| zh-CN | Chinese (China) | CFTR 基因 突变分析: Synonyms: ABC35; |
2077-6 Chloride [Moles/volume] in Sweat
Term Description
Extended monitoring of sweat composition allows for athlete and patient health, welfare and performance to be examined. With this information, corrective modifications to fluid and dietary intake can be made. Sweat contains many ions, including sodium, potassium, calcium, magnesium, and chloride among others. Sweat composition analysis also detects chemical changes indicative of cystic fibrosis, infections and other imbalances. PMID: 28336151
Source: Regenstrief LOINC
Part Descriptions
LP15483-8 Chloride
The chloride ion is formed when the element chlorine picks up one electron to form an anion negatively-charged ion Cl−. The salts of hydrochloric acid contain chloride ions and can also be called chlorides.
Copyright Text is available under the Creative Commons Attribution/Share-Alike License. See http://creativecommons.org/licenses/by-sa/3.0/ for details.
Source: Wikipedia, Chloride
LP15483-8 Chloride
Chloride is an essential mineral required by humans that is found mainly in body fluids. It is an important, negatively charged ion in the blood, and a major electrolyte that helps to conduct electrical impulses. Electrolytes including chloride are located in the blood, lymph, and intra- and extra-cellular fluid. Chloride helps to regulate osmolarity by offsetting the positively charged sodium and potassium ions in the serum. It combines with hydrogen to form hydrochloric acid in the digestive tract which breaks down proteins, absorbs metallic minerals, and activates intrinsic factor. Chloride is absorbed both actively and passively in order to help maintain extracellular fluid volume. There is a continuous exchange of chloride and bicarbonate that occurs between the red blood cells and the plasma that controls the pH and excretion of carbon dioxide, a waste product of respiration.[https://traceminerals.com/chloride-the-forgotten-essential-mineral/]
Source: Regenstrief LOINC
Reference Information
| Type | Source | Reference |
|---|---|---|
| Webcontent | Lab Tests Online®Copyright Copyright © 2021 Lab Tests Online. All rights reserved. | Sweat Chloride Test |
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Chloride
- Property
- SCnc
- Time
- Pt
- System
- Sweat
- Scale
- Qn
- Method
Additional Names
- Short Name
- Chloride Sweat-sCnc
- Display Name
- Chloride (Sweat) [Moles/Vol]
- Consumer Name Alpha Get Info
- Chloride, Sweat
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 1.0
- Last Updated
- Version 2.73
- Order vs. Observation
- Both
- Common Test Rank Get Info
- 2927
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 74993-7 | Chloride and sodium panel [Moles/volume] - Sweat |
| 54078-1 | Cystic fibrosis newborn screening panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| de-DE | German (Germany) | Chlorid: |
| de-AT | German (Austria) | Synonyms: Chlorid /SW |
| es-ES | Spanish (Spain) | Cloro: Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Cloruro: |
| es-AR | Spanish (Argentina) | cloruro: |
| et-EE | Estonian (Estonia) | Kloriid: Synonyms: Aine kontsentratsioon Higi Juhuslik Kvantitatiivne |
| fr-CA | French (Canada) | Chlorure: |
| fr-FR | French (France) | Chlore: |
| fr-BE | French (Belgium) | Chlorure: Synonyms: Cl- |
| it-IT | Italian (Italy) | Cloruro: Synonyms: Chimica Concentrazione di Sostanza Punto nel tempo (episodio) |
| ko-KR | Korean (Korea, Republic Of) | 염화물: |
| nl-NL | Dutch (Netherlands) | chloride: |
| pl-PL | Polish (Poland) | Chlorek: |
| pt-BR | Portuguese (Brazil) | Cloreto: Synonyms: Cl-; |
| ru-RU | Russian (Russian Federation) | Хлорид: Synonyms: Количественный Молярность; |
| tr-TR | Turkish (Turkey) | Klorür: |
| zh-CN | Chinese (China) | 氯: Synonyms: Cl; |
Example Units
| Unit | Source |
|---|---|
| mmol/L | Example UCUM Units |
| mmol/L | REGENSTRIEF |
48633-2 Trypsinogen I Free [Mass/volume] in DBS
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Trypsinogen I.free
- Property
- MCnc
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- Trypsinogen I Free DBS-mCnc
- Display Name
- Trypsinogen I Free (DBS) [Mass/Vol]
- Consumer Name Alpha Get Info
- Free Trypsinogen I, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.21
- Last Updated
- Version 2.73
- Order vs. Observation
- Both
- Common Test Rank Get Info
- 1406
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 54078-1 | Cystic fibrosis newborn screening panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Tripsinógeno I libre: Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Tripsinógeno I libre: |
| et-EE | Estonian (Estonia) | Trüpsinogeen I.vaba: Synonyms: Juhuslik Kvantitatiivne Veri |
| fr-CA | French (Canada) | Trypsinogène I.libre: |
| fr-FR | French (France) | Trypsinogène I libre: |
| fr-BE | French (Belgium) | Trypsinogène I.libre: |
| it-IT | Italian (Italy) | Tripsinogeno I.libero: Synonyms: Chimica Concentrazione di Massa Punto nel tempo (episodio) Sangue Spot sangue secco Tripsinogeno I Libero |
| nl-NL | Dutch (Netherlands) | trypsinogeen I.vrij: |
| pt-BR | Portuguese (Brazil) | Tripsinogênio I.livre: Synonyms: Mass concentration; |
| ru-RU | Russian (Russian Federation) | Трипсиноген I.свободный: Synonyms: Количественный Кровь Кровь сухая капля Массовая концентрация Точка во времени; |
| tr-TR | Turkish (Turkey) | Tripsinojen I.serb: |
| zh-CN | Chinese (China) | 胰蛋白酶原 I.游离型: Synonyms: I 型 IRT 免疫反应性胰朊酶 免疫反应性胰蛋白酶 免疫反应性胰蛋白酶（Immunoreactive trypsin， |
Example Units
| Unit | Source |
|---|---|
| ug/L | Example UCUM Units |
54076-5 Endocrine newborn screening panel
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Endocrine newborn screening panel
- Property
- -
- Time
- Pt
- System
- Bld.dot
- Scale
- -
- Method
Additional Names
- Short Name
- NB pnl Endocrine DBS
- Display Name
- Endocrine NBS panel (DBS)
- Consumer Name Alpha Get Info
- Endocrine NBS Panel, Dried blood spot
Basic Attributes
- Class
- PANEL.CHEM
- Type
- Laboratory
- First Released
- Version 2.26
- Last Updated
- Version 2.77
- Order vs. Observation
- Order
- Panel Type
- Panel
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Panel endocrino de cribado neonatal: |
| es-MX | Spanish (Mexico) | Panel de cribado endocrino neonatal: |
| fr-FR | French (France) | Dépistage néonatal endocrinien panel: |
| it-IT | Italian (Italy) | Screening panel endocrino neonatale: Synonyms: Chimica Panel screening neonatale Punto nel tempo (episodio) Sangue Set di prescrizione chimica Spot sangue secco |
| nl-NL | Dutch (Netherlands) | endocriene pasgeborene screening panel: |
| pt-BR | Portuguese (Brazil) | Recém nascido triagem endócrino painel: Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Эндокринный новорождённый скрининг панель: Synonyms: Кровь Кровь сухая капля Точка во времени; |
| zh-CN | Chinese (China) | 内分泌新生儿筛查组套: Synonyms: Asympt SCN 全血斑点(滤纸); |
57086-1 Congenital adrenal hyperplasia newborn screening panel
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Congenital adrenal hyperplasia newborn screening panel
- Property
- -
- Time
- Pt
- System
- Bld.dot
- Scale
- -
- Method
Additional Names
- Short Name
- CAH NB scn pnl DBS
- Display Name
- Congenital adrenal hyperplasia NBS panel (DBS)
- Consumer Name Alpha Get Info
- Congenital Adrenal Hyperplasia NBS Panel, Dried blood spot
Basic Attributes
- Class
- PANEL.CHEM
- Type
- Laboratory
- First Released
- Version 2.29
- Last Updated
- Version 2.77
- Order vs. Observation
- Order
- Panel Type
- Panel
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 54076-5 | Endocrine newborn screening panel |
| 54075-7 | Endocrine newborn screening panel (SI units) |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Panel de cribado neonatal de la hiperplasia adrenal congénita: |
| es-MX | Spanish (Mexico) | Panel de cribado neonatal de hiperplasia suprarrenal congénita: |
| fr-FR | French (France) | Hyperplasie congénitale des surrénales dépistage néonatal panel: |
| it-IT | Italian (Italy) | Iperplasia surrenale congenita, panel screening neonatale: Synonyms: Chimica Panel screening neonatale Panel screening neonatale per iperplasia surrenale Punto nel tempo (episodio) Sangue Set di prescrizione chimica Spot sangue secco Surrene |
| nl-NL | Dutch (Netherlands) | congenitale bijnierhyperplasie pasgeborene screening panel: |
| pt-BR | Portuguese (Brazil) | Hiperplasia adrenal congênita painel de triagem neonatal: Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Врождённая надпочечник гиперплазия новорождённый скрининг панель: Synonyms: Врождённая гиперплазия надпочечников Кровь Кровь сухая капля Точка во времени; |
| zh-CN | Chinese (China) | 先天性肾上腺皮质增生新生儿筛查组套: Synonyms: Asympt CAH; |
46758-9 Congenital adrenal hyperplasia newborn screen interpretation
Observation Required in Panel
Required
Fully-Specified Name
- Component
- Congenital adrenal hyperplasia
- Property
- Imp
- Time
- Pt
- System
- Bld.dot
- Scale
- Nom
- Method
Additional Names
- Short Name
- CAH DBS-Imp
- Display Name
- Congenital adrenal hyperplasia (DBS) [Interp]
- Consumer Name Alpha Get Info
- Congenital adrenal hyperplasia, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.19
- Last Updated
- Version 2.73
- Change Reason
- Changed answer list from "Normative" to "Preferred" to fit the current LOINC model.
- Order vs. Observation
- Observation
- Common Test Rank Get Info
- 12993
Preferred Answer List LL840-0
| Answer | Code | Score | Answer ID |
|---|---|---|---|
| In range | LA18592-8 | ||
| Borderline | LA4259-3 | ||
| Indeterminate Copyright http://snomed.info/sct ID:82334004 Indeterminate (qualifier value) | LA11884-6 | ||
| Out of range | LA18593-6 | ||
| Out of range requiring further dried blood spot testing for at least one condition | LA12430-7 | ||
| Out of range requiring immediate referral | LA25817-0 | ||
| Out of range requiring immediate second-tier testing for at least one condition | LA12431-5 | ||
| Out of range requiring deferred follow-up for at least one condition | LA18594-4 | ||
| One or more tests pending | LA16204-2 | ||
| Specimen unsatisfactory for at least one condition | LA16205-9 |
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 54076-5 | Endocrine newborn screening panel |
| 54075-7 | Endocrine newborn screening panel (SI units) |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Hiperplasia adrenal congenita: |
| es-MX | Spanish (Mexico) | Hiperplasia suprarrenal congénita: |
| fr-CA | French (Canada) | Hyperplasie congénitale de la surrénale: |
| fr-FR | French (France) | Hyperplasie congénitale des surrénales: |
| fr-BE | French (Belgium) | Hyperplasie congénitale de la surrénale: Synonyms: Surrénale |
| it-IT | Italian (Italy) | Iperplasia surrenale congenita: Synonyms: Chimica Impressione/interpretazione di studio Punto nel tempo (episodio) Sangue Spot sangue secco Surrene |
| nl-NL | Dutch (Netherlands) | congenitale bijnierhyperplasie: |
| pt-BR | Portuguese (Brazil) | Hiperplasia adrenal congênita: Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Врождённая надпочечников гиперплазия: Synonyms: Впечатление/интерпретация исследования Врождённая гиперплазия надпочечников Кровь Кровь сухая капля Номинальный; |
| tr-TR | Turkish (Turkey) | Konjenital adrenal hiperplazi: |
| zh-CN | Chinese (China) | 先天性肾上腺皮质增生症: Synonyms: CAH; |
Third Party Copyright
This material includes SNOMED Clinical Terms® (SNOMED CT®) which is used by permission of the International Health Terminology Standards Development Organisation (IHTSDO) under license. All rights reserved. SNOMED CT® was originally created by The College of American Pathologists. "SNOMED" and "SNOMED CT" are registered trademarks of the IHTSDO.
This material includes content from the US Edition to SNOMED CT, which is developed and maintained by the U.S. National Library of Medicine and is available to authorized UMLS Metathesaurus Licensees from the UTS Downloads site at https://uts.nlm.nih.gov.
Use of SNOMED CT content is subject to the terms and conditions set forth in the SNOMED CT Affiliate License Agreement. It is the responsibility of those implementing this product to ensure they are appropriately licensed and for more information on the license, including how to register as an Affiliate Licensee, please refer to http://www.snomed.org/snomed-ct/get-snomed-ct or info@snomed.org<mailto:info@snomed.org>. This may incur a fee in SNOMED International non-Member countries.
57706-4 Congenital adrenal hyperplasia newborn screening comment-discussion
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Congenital adrenal hyperplasia newborn screening comment-discussion
- Property
- Txt
- Time
- Pt
- System
- Bld.dot
- Scale
- Nar
- Method
Additional Names
- Short Name
- CAH NBS comment
- Display Name
- Congenital adrenal hyperplasia newborn screening comment-discussion Nar (DBS)
- Consumer Name Alpha Get Info
- Congenital adrenal hyperplasia newborn screening comment-discussion, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.29
- Last Updated
- Version 2.73
- Order vs. Observation
- Observation
- Common Test Rank Get Info
- 17585
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 54076-5 | Endocrine newborn screening panel |
| 54075-7 | Endocrine newborn screening panel (SI units) |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Hiperplasia adrenal congenita screnning de recién nacidos comentario-discusión: |
| es-MX | Spanish (Mexico) | Cribado neonatal de hiperplasia suprarrenal congénita comentario-discusión: |
| fr-FR | French (France) | Hyperplasie congénitale des surrénales dépistage néonatal (commentaire-discussion): |
| fr-BE | French (Belgium) | Hyperplasie congénitale de la surrénale Commentaires.screening néonatal.discussion: Synonyms: Surrénale |
| it-IT | Italian (Italy) | Iperplasia surrenale congenita, screening neonatale, commenti-discussione: Synonyms: Chimica Commento/discussione di screening neonatale per iperplasia surrenale congenita Punto nel tempo (episodio) Sangue Spot sangue secco Surrene Testo |
| nl-NL | Dutch (Netherlands) | congenitale bijnierhyperplasie screening van pasgeborene commentaar-discussie: |
| pt-BR | Portuguese (Brazil) | Hiperplasia adrenal congênita na triagem neonatal comentários-discussão: Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Врождённая надпочечников гиперплазия новорожденный скрининг комментарий-дискуссия: Synonyms: Врождённая гиперплазия надпочечников Кровь Кровь сухая капля Описательный Текст Точка во времени; |
| tr-TR | Turkish (Turkey) | Konjenital adrenal hiperplazi yenidoğan tarama öneri-tartışma: |
| zh-CN | Chinese (China) | 先天性肾上腺皮质增生症 新生儿筛查注释-讨论: Synonyms: Asympt CAH; |
53347-1 11-Deoxycorticosterone [Mass/volume] in DBS
Part Descriptions
LP15283-2 11-Deoxycorticosterone
Deoxycorticosterone is a steroid hormone produced by the adrenal gland that possess mineralocorticoid activity and acts as a precursor to aldosterone.
Copyright Text is available under the Creative Commons Attribution/Share-Alike License. See http://creativecommons.org/licenses/by-sa/3.0/ for details.
Source: Wikipedia, 11-deoxycorticosterone (Wikipedia)
LP15283-2 11-Deoxycorticosterone
Deoxycorticosterone (DOC) is a precursor of corticosterone and aldosterone. The elevations of DOC observed in patients with 11-hydroxylase deficiency (the second leading cause of congenital adrenal hyperplasia) may reflect the hypertension observed. Patients with DOC-secreting tumors also exhibit hypertension.
Source: Regenstrief Institute
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- 11-Deoxycorticosterone
- Property
- MCnc
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- 11DOC DBS-mCnc
- Display Name
- 11-Deoxycorticosterone (DBS) [Mass/Vol]
- Consumer Name Alpha Get Info
- 11-Deoxycorticosterone, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.24
- Last Updated
- Version 2.73
- Order vs. Observation
- Both
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 54076-5 | Endocrine newborn screening panel |
| 54075-7 | Endocrine newborn screening panel (SI units) |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Member of these Groups Get Info
| LOINC Group | Group Name |
|---|---|
| LG41875-2 | 11-Deoxycorticosterone| |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | 11-Desoxicorticosterona: Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | 11-desoxicorticosterona: |
| et-EE | Estonian (Estonia) | 11-deoksükortikosteroon: Synonyms: Juhuslik Kvantitatiivne Veri |
| fr-CA | French (Canada) | 11-désoxycorticostérone: |
| fr-FR | French (France) | 11-déoxycorticostérone: |
| fr-BE | French (Belgium) | 11-désoxycorticostérone: |
| it-IT | Italian (Italy) | 11-Deossicorticosterone: Synonyms: Chimica Concentrazione di Massa Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | 11-deoxycorticosteron: |
| pt-BR | Portuguese (Brazil) | 11-Deoxicorticosterona: Synonyms: ; |
| ru-RU | Russian (Russian Federation) | 1-Деоксикортикостерон: Synonyms: 1-Дезоксикортикостерон Количественный Кровь Кровь сухая капля Массовая концентрация Точка во времени; |
| tr-TR | Turkish (Turkey) | 11-Deoksikortikosteron: |
| zh-CN | Chinese (China) | 11-脱氧皮质酮: Synonyms: 11DOC; |
Example Units
| Unit | Source |
|---|---|
| ng/dL | Example UCUM Units |
53338-0 11-Deoxycortisol [Mass/volume] in DBS
Part Descriptions
LP15252-7 11-Deoxycortisol
11-Deoxycortisol, also known as cortexolone or cortodoxone. is an immediate precursor of cortisol and belongs to the class of organic compounds known as 21-hydroxysteroids. 11-Deoxycortisol is a potentially toxic compound. Accumulation of Cortexolone can happen in a defect known as congenital adrenal hyperplasia, which is due to 11-beta-hydroxylase deficiency, resulting in androgen excess, virilization, and hypertension. PMID: 2022736
Source: Regenstrief LOINC, 11-deoxycortisol
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- 11-Deoxycortisol
- Property
- MCnc
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- 11DC DBS-mCnc
- Display Name
- 11-Deoxycortisol (DBS) [Mass/Vol]
- Consumer Name Alpha Get Info
- 11-Deoxycortisol, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.24
- Last Updated
- Version 2.73
- Order vs. Observation
- Both
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 54076-5 | Endocrine newborn screening panel |
| 54075-7 | Endocrine newborn screening panel (SI units) |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Member of these Groups Get Info
| LOINC Group | Group Name |
|---|---|
| LG41877-8 | 11-Deoxycortisol| |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | 11-Deoxicortisol: Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | 11-desoxicortisol: |
| et-EE | Estonian (Estonia) | 11-deoksükortisool: Synonyms: Juhuslik Kvantitatiivne Veri |
| fr-CA | French (Canada) | 11-désoxycortisol: |
| fr-FR | French (France) | 11-déoxycortisol: |
| fr-BE | French (Belgium) | 11-déoxycortisol: |
| it-IT | Italian (Italy) | 11-Deossicortisolo: Synonyms: Chimica Concentrazione di Massa Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | 11-deoxycortisol: |
| pt-BR | Portuguese (Brazil) | 11-Deoxicortisol: Synonyms: ; |
| ru-RU | Russian (Russian Federation) | 11-Деоксикортизол: Synonyms: 11-Дезоксикортизол Количественный Кровь Кровь сухая капля Массовая концентрация Точка во времени; |
| tr-TR | Turkish (Turkey) | 11-Deoksikortizol: |
| zh-CN | Chinese (China) | 11-脱氧皮质醇: Synonyms: 11DC; |
Example Units
| Unit | Source |
|---|---|
| ug/dL | Example UCUM Units |
38473-5 17-Hydroxyprogesterone [Mass/volume] in DBS
Part Descriptions
LP14974-7 17-Hydroxyprogesterone
17-hydroxyprogesterone (17-OHP) is a steroid that is a member of the adrenal biosynthetic pathway and measured in order to diagnose congenital adrenal hyperplasia (CAH). Classic CAH is suspected when virilisation is seen in females at birth. The diagnosis of CAH in boys can be delayed. CAH is characterized by decreased cortisol as a result of a mutation in the CYP21A2 gene, which encodes the enzyme 21-hydroxylase. Increased blood concentrations of 17-OHP indicate a deficiency in 21-hydroxylase since 17-OHP is the substrate for 21-hydroxylase. Reduced levels of 21-hydroxylase negatively affect the production of cortisol. CAH is among the most frequent genetic disorders in humans. The severity of the physical manifestations are related to the degree of 21-hydroxylase deficiency. PMID: 24711560
Source: Regenstrief LOINC
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- 17-Hydroxyprogesterone
- Property
- MCnc
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- 17OHP DBS-mCnc
- Display Name
- 17-Hydroxyprogesterone (DBS) [Mass/Vol]
- Consumer Name Alpha Get Info
- 17-Hydroxyprogesterone, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.14
- Last Updated
- Version 2.73
- Order vs. Observation
- Both
- Common Test Rank Get Info
- 17486
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 54076-5 | Endocrine newborn screening panel |
| 54075-7 | Endocrine newborn screening panel (SI units) |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Member of these Groups Get Info
| LOINC Group | Group Name |
|---|---|
| LG50877-6 | 17-Hydroxyprogesterone| |
| LG42190-5 | 17-Hydroxyprogesterone| |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| de-DE | German (Germany) | 17-Hydroxyprogesteron: Synonyms: 17-OH-Progesteron; |
| es-ES | Spanish (Spain) | 17-hidroxiprogesterona: Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | 17-hidroxiprogesterona: |
| es-AR | Spanish (Argentina) | 17-hidroxiprogesterona: |
| et-EE | Estonian (Estonia) | 17-alfahüdroksüprogesteroon: Synonyms: Juhuslik Kvantitatiivne Veri |
| fr-CA | French (Canada) | 17-hydroxyprogestérone: |
| fr-FR | French (France) | 17-hydroxyprogestérone: |
| fr-BE | French (Belgium) | 17-hydroxyprogestérone: |
| it-IT | Italian (Italy) | 17-Idrossiprogesterone: Synonyms: Chimica Concentrazione di Massa Punto nel tempo (episodio) Sangue Spot sangue secco |
| ko-KR | Korean (Korea, Republic Of) | 17-하이드록시프로게스테론: |
| nl-NL | Dutch (Netherlands) | 17-hydroxyprogesteron: |
| pt-BR | Portuguese (Brazil) | 17-hidroxiprogesterona: Synonyms: ; |
| ru-RU | Russian (Russian Federation) | 17-гидроксипрогестерон: Synonyms: Количественный Кровь Кровь сухая капля Массовая концентрация Точка во времени; |
| tr-TR | Turkish (Turkey) | 17-Hidroksiprogesteron: |
| uk-UA | Ukrainian (Ukraine) | 17-Гідроксипрогестерон: Synonyms: 17-alpha-hydroxyprogesterone; |
| zh-CN | Chinese (China) | 17-羟孕酮: Synonyms: 17-Alpha-OH 黄体酮; |
Example Units
| Unit | Source |
|---|---|
| ng/mL | Example UCUM Units |
| ng/mL | REGENSTRIEF |
53336-4 17-Hydroxyprogesterone+Androstenedione/Cortisol [Mass Ratio] in DBS
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- 17-Hydroxyprogesterone+Androstenedione/Cortisol
- Property
- MRto
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- 17OHCS+Androst/Cortis DBS
- Display Name
- 17-Hydroxyprogesterone+Androstenedione/Cortisol (DBS) [Mass ratio]
- Consumer Name Alpha Get Info
- 17-Hydroxyprogesterone+Androstenedione/Cortisol, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.24
- Last Updated
- Version 2.73
- Order vs. Observation
- Both
- Common Test Rank Get Info
- 16126
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 54076-5 | Endocrine newborn screening panel |
| 54075-7 | Endocrine newborn screening panel (SI units) |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | 17-Hidroxiprogesterona+Androstendiona/Cortisol: Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | 17-hidroxiprogesterona + androstenediona / cortisol: |
| et-EE | Estonian (Estonia) | 17-hüdroksüprogesteroon + androsteendioon/kortisool: Synonyms: Juhuslik Kvantitatiivne Veri |
| fr-CA | French (Canada) | 17-hydroxyprogestérone+Androstènedione/Cortisol: |
| fr-FR | French (France) | 17-hydroxyprogestérone+androstènedione/cortisol: |
| fr-BE | French (Belgium) | 17-hydroxyprogestérone+Androstènedione/Cortisol: Synonyms: Rapport de masse |
| it-IT | Italian (Italy) | 17-Idrossiprogesterone+Androstenedione/Cortisolo: Synonyms: Chimica Punto nel tempo (episodio) Rapporto di Massa Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | 17-hydroxyprogesteron + androsteendion/cortisol: |
| pt-BR | Portuguese (Brazil) | 17-hidroxiprogesterona+Androstenediona/Cortisol: Synonyms: ; |
| ru-RU | Russian (Russian Federation) | 17-Гидроксипрогестерон+Андростендион/Кортизол: Synonyms: Количественный Кровь Кровь сухая капля Масс отношение Точка во времени; |
| tr-TR | Turkish (Turkey) | 17-Hidroksiprogesteron+Androstenedion/Kortizol: |
| zh-CN | Chinese (China) | 17-羟孕酮+雄烯二酮/皮质醇: Synonyms: 17-Alpha-OH 黄体酮; |
Example Units
| Unit | Source |
|---|---|
| {ratio} | Example UCUM Units |
53341-4 21-Deoxycortisol [Mass/volume] in DBS
Part Descriptions
LP65144-5 21-Deoxycortisol
Plasma 21-deoxycortisol (21DF) is an excellent marker of 21-hydroxylase deficiency. Currently, it is the only marker able to detect heterozygous carriers with 21-hydroxylase deficiency after Adrenocorticotropic Hormone (ACTH) stimulation. The syndrome of congenital adrenal hyperplasia (CAH) comprises the spectrum of autosomal recessive enzymatic disorders that impair cortisol biosynthesis. The hormonal pattern and clinical manifestations result from hyperstimulation of the adrenal cortex by excessive production of ACTH, untied from the negative feedback exerted by reduced cortisol levels, and the ultimate accumulation of F precursors and androgens. These abnormalities predispose the female newborn to ambiguous genitalia (female pseudohermaphroditism) and precocious puberty that may occur in both sexes. CAH due to 21-hydroxylase deficiency (21OHD) comprises nearly 90% of all cases, with an estimated worldwide incidence of 1 in 14,000 live births. Because 21-deoxycortisol (21DF) is an 11b-hydroxylase (11bOH) derivative of 17-hydroxyprogesterone (17OHP), its serum levels are parallel and proportionally elevated in patients with 21OHD but decreased or undetectable in those with 11b-hydroxylase deficiency (11bOHD). Due to the marked buildup of 17OHP in 21OHD, this precursor steroid can proceed directly to 11-hydroxylation, producing distinct elevations of 21DF. PMID: 16551734, PMID: 10731638
Copyright Copyright ©2005-2009 Genome Alberta (Reference to original publication: Wishart DS, Knox C, Guo AC, et al. HMDB: a knowledgebase for the human metabolome. Nucleic Acids Res. 2009 37(Database issue):D603-610.)
Source: Human Metabolome Database, 21-Deoxycortisol
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- 21-Deoxycortisol
- Property
- MCnc
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- 21DC DBS-mCnc
- Display Name
- 21-Deoxycortisol (DBS) [Mass/Vol]
- Consumer Name Alpha Get Info
- 21-Deoxycortisol, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.24
- Last Updated
- Version 2.73
- Order vs. Observation
- Both
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 54076-5 | Endocrine newborn screening panel |
| 54075-7 | Endocrine newborn screening panel (SI units) |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Member of these Groups Get Info
| LOINC Group | Group Name |
|---|---|
| LG43267-0 | 21-Deoxycortisol| |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | 21-Deoxicortisol: Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | 21-desoxicortisol: |
| et-EE | Estonian (Estonia) | 21-deoksükortisool: Synonyms: Juhuslik Kvantitatiivne Veri |
| fr-CA | French (Canada) | 21-désoxycortisol: |
| fr-FR | French (France) | 21-déoxycortisol: |
| fr-BE | French (Belgium) | 21-déoxycortisol: |
| it-IT | Italian (Italy) | 21-Deossicortisolo: Synonyms: Chimica Concentrazione di Massa Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | 21-deoxycortisol: |
| pt-BR | Portuguese (Brazil) | 21-Deoxicortisol: Synonyms: ; |
| ru-RU | Russian (Russian Federation) | 21-Дезоксикортизол: Synonyms: Количественный Кровь Кровь сухая капля Массовая концентрация Точка во времени; |
| tr-TR | Turkish (Turkey) | 21-Deoksikortizol: |
| zh-CN | Chinese (China) | 21-脱氧皮质醇: Synonyms: 21DC; |
Example Units
| Unit | Source |
|---|---|
| ug/dL | Example UCUM Units |
53343-0 Androstenedione [Mass/volume] in DBS
Part Descriptions
LP14493-8 Androstenedione
Androstenedione (also known as 4-androstenedione) is a 19-carbon steroid hormone produced in the adrenal glands and the gonads as an intermediate step in the biochemical pathway that produces the androgen testosterone and the estrogens estrone and estradiol. It is the common precursor of male and female sex hormones. Some androstenedione is also secreted into the plasma, and may be converted in peripheral tissues to testosterone and estrogens. Androstenedione originates either from the conversion of dehydroepiandrosterone or from 17-hydroxyprogesterone. It is further converted to either testosterone or estrone. The production of adrenal androstenedione is governed by ACTH, while production of gonadal androstenedione is controled by gonadotropins. In premenopausal women the adrenal glands and ovaries each produce about half of the total androstendione (about 3 mgday).
Copyright Text is available under the Creative Commons Attribution/Share-Alike License. See http://creativecommons.org/licenses/by-sa/3.0/ for details.
Source: Wikipedia, Androstenedione (Wikipedia)
LP14493-8 Androstenedione
Testing for androstenedione is used to diagnose viralizing syndromes including congenital adrenal hyperplasia, female virilization, hirsutism, polycystic ovarian disease, Stein-Levethal syndrome. and to detect abuse of anabolic steroids. It is also a drug- an anabolic steroid- used to enhance atheletic performance, but banned as an OTC drug by the FDA in 2004.
Source: Regenstrief Institute
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Androstenedione
- Property
- MCnc
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- Androst DBS-mCnc
- Display Name
- Androstenedione (DBS) [Mass/Vol]
- Consumer Name Alpha Get Info
- Androstenedione, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.24
- Last Updated
- Version 2.73
- Order vs. Observation
- Both
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 54076-5 | Endocrine newborn screening panel |
| 54075-7 | Endocrine newborn screening panel (SI units) |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Member of these Groups Get Info
| LOINC Group | Group Name |
|---|---|
| LG42767-0 | Androstenedione| |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Androstenediona: Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Androstenediona: |
| et-EE | Estonian (Estonia) | Androsteendioon: Synonyms: Juhuslik Kvantitatiivne Veri |
| fr-CA | French (Canada) | Androstènedione: |
| fr-FR | French (France) | Androstènedione: |
| fr-BE | French (Belgium) | Androstènedione: |
| it-IT | Italian (Italy) | Androstenedione: Synonyms: Chimica Concentrazione di Massa Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | androsteendion: |
| pt-BR | Portuguese (Brazil) | Androstenediona: Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Андростендион: Synonyms: Количественный Кровь Кровь сухая капля Массовая концентрация Точка во времени; |
| tr-TR | Turkish (Turkey) | Androstenediyon: |
| zh-CN | Chinese (China) | 雄烯二酮: Synonyms: Androst; |
Example Units
| Unit | Source |
|---|---|
| ng/dL | Example UCUM Units |
53345-5 Cortisol [Mass/volume] in DBS
Part Descriptions
LP14161-1 Cortisol
Cortisol is a glucocorticoid produced in the adrenal cortex. A synthetic version of this same chemical is called hydrocortisone and manufactured as medication. Cortisol is not to be confused with cortisone, a closely related compound with much less (PubChem calls it "inactive") biologic activity. Cortisone is also offered as a drug, and it is converted to cortisol (the active form) in the liver. They both have a circadian rhythm with peak in the AM (around 8AM) and trough in the evening (around midnight), but this shifts according to sleep habits (work shifts). The morning measurement, which should be high, is most useful for diagnosing Addison's disease (too little cortisol) and the evening measurement, which should be low, is the most useful for diagnosing Cushing's disease (too much cortisol). Salivary cortisol may be a more sensitive measure than serum or plasma.
Source: Regenstrief Help
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Cortisol
- Property
- MCnc
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- Cortis DBS-mCnc
- Display Name
- Cortisol (DBS) [Mass/Vol]
- Consumer Name Alpha Get Info
- Cortisol, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.24
- Last Updated
- Version 2.73
- Order vs. Observation
- Both
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 54076-5 | Endocrine newborn screening panel |
| 54075-7 | Endocrine newborn screening panel (SI units) |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Member of these Groups Get Info
| LOINC Group | Group Name |
|---|---|
| LG43172-2 | Cortisol| |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Cortisol: Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Cortisol: |
| et-EE | Estonian (Estonia) | Kortisool: Synonyms: Juhuslik Kvantitatiivne Veri |
| fr-CA | French (Canada) | Cortisol: |
| fr-FR | French (France) | Cortisol: |
| fr-BE | French (Belgium) | Cortisol: |
| it-IT | Italian (Italy) | Cortisolo: Synonyms: Chimica Concentrazione di Massa Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | cortisol: |
| pt-BR | Portuguese (Brazil) | Cortisol: Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Кортизол: Synonyms: Количественный Кровь Кровь сухая капля Массовая концентрация Точка во времени; |
| tr-TR | Turkish (Turkey) | Kortizol: |
| zh-CN | Chinese (China) | 皮质醇: Synonyms: 17-羟皮质甾酮; |
Example Units
| Unit | Source |
|---|---|
| ug/dL | Example UCUM Units |
54090-6 Thyroid newborn screening panel
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Thyroid newborn screening panel
- Property
- -
- Time
- Pt
- System
- Bld.dot
- Scale
- -
- Method
Additional Names
- Short Name
- NB pnl Thyroid DBS
- Display Name
- Thyroid NBS panel (DBS)
- Consumer Name Alpha Get Info
- Thyroid NBS Panel, Dried blood spot
Basic Attributes
- Class
- PANEL.CHEM
- Type
- Laboratory
- First Released
- Version 2.26
- Last Updated
- Version 2.77
- Order vs. Observation
- Order
- Panel Type
- Panel
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 54076-5 | Endocrine newborn screening panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Panel de tiroides en cribado neonatal: |
| es-MX | Spanish (Mexico) | Panel de detección de tiroides para recién nacidos: |
| fr-FR | French (France) | Anomalie thyroïdienne dépistage néonatal panel: |
| it-IT | Italian (Italy) | Tiroide, panel screening neonatale: Synonyms: Chimica Panel screening neonatale Panel screening neonatale per tiroide Punto nel tempo (episodio) Sangue Set di prescrizione chimica Spot sangue secco |
| nl-NL | Dutch (Netherlands) | thyroïd pasgeborene screening panel: Synonyms: thyroid pasgeborene screening panel |
| pt-BR | Portuguese (Brazil) | Recém nascido triagem tireóide painel: Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Щитовидная скрининг панель: Synonyms: Кровь Кровь сухая капля Точка во времени; |
| zh-CN | Chinese (China) | 甲状腺新生儿筛查组套: Synonyms: Asympt SCN 全血斑点(滤纸); |
46762-1 Congenital hypothyroidism newborn screen interpretation
Part Descriptions
LP56766-6 Congenital hypothyroidism
A condition in infancy or early childhood due to an in-utero deficiency of THYROID HORMONES that can be caused by genetic or environmental factors, such as thyroid dysgenesis or HYPOTHYROIDISM in infants of mothers treated with THIOURACIL during pregnancy. Endemic cretinism is the result of iodine deficiency. Clinical symptoms include severe MENTAL RETARDATION, impaired skeletal development, short stature, and MYXEDEMA.
Source: National Library of Medicine, MeSH 2006
Observation Required in Panel
Required
Fully-Specified Name
- Component
- Congenital hypothyroidism
- Property
- Imp
- Time
- Pt
- System
- Bld.dot
- Scale
- Nom
- Method
Additional Names
- Short Name
- CH DBS-Imp
- Display Name
- Congenital hypothyroidism (DBS) [Interp]
- Consumer Name Alpha Get Info
- Congenital hypothyroidism, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.19
- Last Updated
- Version 2.73
- Change Reason
- Changed answer list from "Normative" to "Preferred" to fit the current LOINC model.
- Order vs. Observation
- Observation
- Common Test Rank Get Info
- 14221
Preferred Answer List LL840-0
| Answer | Code | Score | Answer ID |
|---|---|---|---|
| In range | LA18592-8 | ||
| Borderline | LA4259-3 | ||
| Indeterminate Copyright http://snomed.info/sct ID:82334004 Indeterminate (qualifier value) | LA11884-6 | ||
| Out of range | LA18593-6 | ||
| Out of range requiring further dried blood spot testing for at least one condition | LA12430-7 | ||
| Out of range requiring immediate referral | LA25817-0 | ||
| Out of range requiring immediate second-tier testing for at least one condition | LA12431-5 | ||
| Out of range requiring deferred follow-up for at least one condition | LA18594-4 | ||
| One or more tests pending | LA16204-2 | ||
| Specimen unsatisfactory for at least one condition | LA16205-9 |
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 54076-5 | Endocrine newborn screening panel |
| 54075-7 | Endocrine newborn screening panel (SI units) |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
| 54077-3 | Thyroid newborn screening panel (SI units) |
Member of these Groups Get Info
| LOINC Group | Group Name |
|---|---|
| LG18377-8 | Congenital hypothyroidism| |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Hipotiroidismo Congenito: |
| es-MX | Spanish (Mexico) | Hipotiroidismo congénito: |
| fr-CA | French (Canada) | Hypothyroïdie congénitale: |
| fr-FR | French (France) | Hypothyroïdisme congénital: |
| fr-BE | French (Belgium) | Hypothyroïdie congénitale: |
| it-IT | Italian (Italy) | Ipotiroidismo congenito: Synonyms: Chimica Impressione/interpretazione di studio Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | congenitale hypothyreoïdie: |
| pt-BR | Portuguese (Brazil) | Hipotireoidismo congênito: Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Врождённый гипотиреоидизм: Synonyms: Впечатление/интерпретация исследования Кровь Кровь сухая капля Номинальный; |
| tr-TR | Turkish (Turkey) | Konjenital hipotiroizm: |
| zh-CN | Chinese (China) | 先天性甲状腺机能减退: Synonyms: CH; |
Third Party Copyright
This material includes SNOMED Clinical Terms® (SNOMED CT®) which is used by permission of the International Health Terminology Standards Development Organisation (IHTSDO) under license. All rights reserved. SNOMED CT® was originally created by The College of American Pathologists. "SNOMED" and "SNOMED CT" are registered trademarks of the IHTSDO.
This material includes content from the US Edition to SNOMED CT, which is developed and maintained by the U.S. National Library of Medicine and is available to authorized UMLS Metathesaurus Licensees from the UTS Downloads site at https://uts.nlm.nih.gov.
Use of SNOMED CT content is subject to the terms and conditions set forth in the SNOMED CT Affiliate License Agreement. It is the responsibility of those implementing this product to ensure they are appropriately licensed and for more information on the license, including how to register as an Affiliate Licensee, please refer to http://www.snomed.org/snomed-ct/get-snomed-ct or info@snomed.org<mailto:info@snomed.org>. This may incur a fee in SNOMED International non-Member countries.
57705-6 Congenital hypothyroidism newborn screening comment-discussion
Part Descriptions
LP56766-6 Congenital hypothyroidism
A condition in infancy or early childhood due to an in-utero deficiency of THYROID HORMONES that can be caused by genetic or environmental factors, such as thyroid dysgenesis or HYPOTHYROIDISM in infants of mothers treated with THIOURACIL during pregnancy. Endemic cretinism is the result of iodine deficiency. Clinical symptoms include severe MENTAL RETARDATION, impaired skeletal development, short stature, and MYXEDEMA.
Source: National Library of Medicine, MeSH 2006
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Congenital hypothyroidism newborn screening comment-discussion
- Property
- Txt
- Time
- Pt
- System
- Bld.dot
- Scale
- Nar
- Method
Additional Names
- Short Name
- CH NBS comment
- Display Name
- Congenital hypothyroidism newborn screening comment-discussion Nar (DBS)
- Consumer Name Alpha Get Info
- Congenital hypothyroidism newborn screening comment-discussion, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.29
- Last Updated
- Version 2.73
- Order vs. Observation
- Observation
- Common Test Rank Get Info
- 19792
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 54076-5 | Endocrine newborn screening panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Hipotiroidismo Congenito screnning de recién nacidos comentario-discusión: |
| es-MX | Spanish (Mexico) | Hipotiroidismo congénito cribado neonatal comentario-discusión: |
| fr-FR | French (France) | Hypothyroïdisme congénital dépistage néonatal (commentaire-discusssion): |
| fr-BE | French (Belgium) | Hypothyroïdie congénitale Commentaires.screening néonatal.discussion: |
| it-IT | Italian (Italy) | Ipotiroidismo congenito, screening neonatale, commenti-discussione: Synonyms: Chimica Commento/discussione di screening neonatale per ipotiroidismo congenito Punto nel tempo (episodio) Sangue Spot sangue secco Testo |
| nl-NL | Dutch (Netherlands) | congenitale hypothyreoïdie screening van pasgeborene commentaar-discussie: |
| pt-BR | Portuguese (Brazil) | Hipotireoidismo congênito na triagem neonatal comentários-discussão: Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Врождённый гипотиреоидизм новорожденный скрининг комментарий-дискуссия: Synonyms: Кровь Кровь сухая капля Описательный Текст Точка во времени; |
| tr-TR | Turkish (Turkey) | Konjenital hipotiroizm yenidoğan tarama öneri-tartışma: |
| zh-CN | Chinese (China) | 先天性甲状腺机能减退 新生儿筛查注释-讨论: Synonyms: Asympt CH; |
31144-9 Thyroxine (T4) [Mass/volume] in DBS
Part Descriptions
LP15900-1 Thyroxine
The major hormone derived from the thyroid gland. Thyroxine is synthesized via the iodination of tyrosine (monoiodotyrosine) and the coupling of iodotyrosine (diiodotyrosine) in thyroglobulin. Thyroxine is separated from thyroglobulin by proteolysis and released in the blood. Thyroxine is peripherally deiodinated to form triiodothyronine which exerts broad stimulatory effects on cell metabolism.
Source: National Library of Medicine, MeSH 2006
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Thyroxine
- Property
- MCnc
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- T4 DBS-mCnc
- Display Name
- T4 (DBS) [Mass/Vol]
- Consumer Name Alpha Get Info
- T4, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.07
- Last Updated
- Version 2.73
- Order vs. Observation
- Both
- Common Test Rank Get Info
- 580
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 54076-5 | Endocrine newborn screening panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Member of these Groups Get Info
| LOINC Group | Group Name |
|---|---|
| LG46372-5 | Thyroxine| |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Tiroxina: Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Tiroxina: |
| es-AR | Spanish (Argentina) | tiroxina: |
| et-EE | Estonian (Estonia) | Türoksiin: Synonyms: Juhuslik Kvantitatiivne Veri |
| fr-CA | French (Canada) | Thyroxine: |
| fr-FR | French (France) | Thyroxine: |
| fr-BE | French (Belgium) | Thyroxine: Synonyms: T4 |
| it-IT | Italian (Italy) | Tiroxina: Synonyms: Chimica Concentrazione di Massa Punto nel tempo (episodio) Sangue Spot sangue secco |
| ko-KR | Korean (Korea, Republic Of) | 티록신: |
| nl-NL | Dutch (Netherlands) | thyroxine: |
| pl-PL | Polish (Poland) | Tyroksyna: |
| pt-BR | Portuguese (Brazil) | Tiroxina: Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Тироксин: Synonyms: Количественный Кровь Кровь сухая капля Массовая концентрация Точка во времени; |
| tr-TR | Turkish (Turkey) | Tiroksin: |
| zh-CN | Chinese (China) | 甲状腺素: Synonyms: T4; |
Example Units
| Unit | Source |
|---|---|
| ug/dL | Example UCUM Units |
| mcg/dL | REGENSTRIEF |
29575-8 Thyrotropin [Units/volume] in DBS
Part Descriptions
LP14487-0 Thyrotropin
A glycoprotein hormone secreted by the adenohypophysis (anterior pituitary gland). Thyrotropin stimulates the thyroid gland by increasing the iodide transport, synthesis and release of thyroid hormones (thyroxine and triiodothyronine). Thyrotropin consists of two noncovalently linked subunits, alpha and beta. Within a species, the alpha subunit is common in the pituitary glycoprotein hormones (TSH; Luteinizing hormone and FSH), but the beta subunit is unique and confers its biological specificity.
Source: National Library of Medicine, MeSH 2006
Reference Information
| Type | Source | Reference |
|---|---|---|
| Webcontent | Lab Tests Online®Copyright Copyright © 2021 Lab Tests Online. All rights reserved. | Thyroid-stimulating Hormone (TSH) |
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Thyrotropin
- Property
- ACnc
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- TSH DBS-aCnc
- Display Name
- TSH Qn (DBS)
- Consumer Name Alpha Get Info
- Thyroid Stimulating Hormone (TSH; Thyrotropin), Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.03
- Last Updated
- Version 2.73
- Order vs. Observation
- Both
- Common Test Rank Get Info
- 581
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 54076-5 | Endocrine newborn screening panel |
| 54075-7 | Endocrine newborn screening panel (SI units) |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
| 54077-3 | Thyroid newborn screening panel (SI units) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Tirotropina: Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Tirotropina: |
| es-AR | Spanish (Argentina) | tirotrofina: |
| et-EE | Estonian (Estonia) | Kilpnääret stimuleeriv hormoon: Synonyms: Juhuslik Kvantitatiivne Türotropiin Veri |
| fr-CA | French (Canada) | Hormone thyréostimulante: |
| fr-FR | French (France) | Thyréostimuline: |
| fr-BE | French (Belgium) | Hormone thyréostimulante: Synonyms: TSH |
| it-IT | Italian (Italy) | Tireotropina: Synonyms: Chimica Concentrazione Arbitraria Punto nel tempo (episodio) Sangue Spot sangue secco TSH |
| ko-KR | Korean (Korea, Republic Of) | 갑상샘자극호르몬: |
| nl-NL | Dutch (Netherlands) | TSH: |
| pl-PL | Polish (Poland) | Tyreotropina: |
| pt-BR | Portuguese (Brazil) | Tirotropina: Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Тиреотропин: Synonyms: Количественный Кровь Кровь сухая капля Произвольная концентрация Точка во времени; |
| tr-TR | Turkish (Turkey) | Tirotropin: |
| zh-CN | Chinese (China) | 促甲状腺激素: Synonyms: TSH; |
Example Units
| Unit | Source |
|---|---|
| m[IU]/L | Example UCUM Units |
| mIU/L | eCHN |
54079-9 Galactosemia newborn screening panel
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Galactosemia newborn screening panel
- Property
- -
- Time
- Pt
- System
- Bld.dot
- Scale
- -
- Method
Additional Names
- Short Name
- NB pnl Galactosemia DBS
- Display Name
- Galactosemia NBS panel (DBS)
- Consumer Name Alpha Get Info
- Galactosemia NBS Panel, Dried blood spot
Basic Attributes
- Class
- PANEL.CHEM
- Type
- Laboratory
- First Released
- Version 2.26
- Last Updated
- Version 2.77
- Order vs. Observation
- Order
- Common Test Rank Get Info
- 18618
- Panel Type
- Panel
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Panel de cribado neonatal para galactosemia: |
| es-MX | Spanish (Mexico) | Panel de cribado neonatal de galactosemia: |
| fr-FR | French (France) | Galactosémie dépistage néonatal panel: |
| it-IT | Italian (Italy) | Galattosemia, panel di screening neonatale: Synonyms: Chimica Panel screening neonatale Panel screening neonatale per galattosemia Punto nel tempo (episodio) Sangue Set di prescrizione chimica Spot sangue secco |
| nl-NL | Dutch (Netherlands) | galactosemie pasgeborene screening panel: |
| pt-BR | Portuguese (Brazil) | Recém nascido triagem galactosemia painel: Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Галактоземия новорождённый скрининг панель: Synonyms: Кровь Кровь сухая капля Точка во времени; |
| zh-CN | Chinese (China) | 半乳糖血症新生儿筛查组套: Synonyms: Asympt SCN 全血斑点(滤纸); |
46737-3 Galactosemias newborn screen interpretation
Observation Required in Panel
Required
Type of Entry
Question expects user entry - requires response [Q]
Fully-Specified Name
- Component
- Galactosemias
- Property
- Imp
- Time
- Pt
- System
- Bld.dot
- Scale
- Nom
- Method
Additional Names
- Short Name
- Galactosemias DBS-Imp
- Display Name
- Galactosemias (DBS) [Interp]
- Consumer Name Alpha Get Info
- Galactosemias, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.19
- Last Updated
- Version 2.73
- Change Reason
- Changed answer list from "Normative" to "Preferred" to fit the current LOINC model.
- Order vs. Observation
- Observation
- Common Test Rank Get Info
- 1405
Preferred Answer List LL840-0
| Answer | Code | Score | Answer ID |
|---|---|---|---|
| In range | LA18592-8 | ||
| Borderline | LA4259-3 | ||
| Indeterminate Copyright http://snomed.info/sct ID:82334004 Indeterminate (qualifier value) | LA11884-6 | ||
| Out of range | LA18593-6 | ||
| Out of range requiring further dried blood spot testing for at least one condition | LA12430-7 | ||
| Out of range requiring immediate referral | LA25817-0 | ||
| Out of range requiring immediate second-tier testing for at least one condition | LA12431-5 | ||
| Out of range requiring deferred follow-up for at least one condition | LA18594-4 | ||
| One or more tests pending | LA16204-2 | ||
| Specimen unsatisfactory for at least one condition | LA16205-9 |
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 54079-9 | Galactosemia newborn screening panel |
| 54080-7 | Galactosemia newborn screening panel (SI units) |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Galactosemias: |
| es-MX | Spanish (Mexico) | Galactosemias: |
| fr-CA | French (Canada) | Galactosémies: |
| fr-FR | French (France) | Galactosémie: |
| fr-BE | French (Belgium) | Galactosémies: |
| it-IT | Italian (Italy) | Galattosemie: Synonyms: Chimica Impressione/interpretazione di studio Punto nel tempo (episodio) Sangue Spot sangue secco |
| ko-KR | Korean (Korea, Republic Of) | 갈락토스혈증: |
| nl-NL | Dutch (Netherlands) | galactosemieën: |
| pt-BR | Portuguese (Brazil) | Galactosemia: Synonyms: Interpretation; |
| ru-RU | Russian (Russian Federation) | Галактоземии: Synonyms: Впечатление/интерпретация исследования Кровь Кровь сухая капля Номинальный; |
| tr-TR | Turkish (Turkey) | Galaktozemiler: |
| zh-CN | Chinese (China) | 半乳糖血症: Synonyms: 全血斑点(滤纸); |
Third Party Copyright
This material includes SNOMED Clinical Terms® (SNOMED CT®) which is used by permission of the International Health Terminology Standards Development Organisation (IHTSDO) under license. All rights reserved. SNOMED CT® was originally created by The College of American Pathologists. "SNOMED" and "SNOMED CT" are registered trademarks of the IHTSDO.
This material includes content from the US Edition to SNOMED CT, which is developed and maintained by the U.S. National Library of Medicine and is available to authorized UMLS Metathesaurus Licensees from the UTS Downloads site at https://uts.nlm.nih.gov.
Use of SNOMED CT content is subject to the terms and conditions set forth in the SNOMED CT Affiliate License Agreement. It is the responsibility of those implementing this product to ensure they are appropriately licensed and for more information on the license, including how to register as an Affiliate Licensee, please refer to http://www.snomed.org/snomed-ct/get-snomed-ct or info@snomed.org<mailto:info@snomed.org>. This may incur a fee in SNOMED International non-Member countries.
57704-9 Galactosemias newborn screening comment-discussion
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Galactosemias newborn screening comment-discussion
- Property
- Txt
- Time
- Pt
- System
- Bld.dot
- Scale
- Nar
- Method
Additional Names
- Short Name
- Galactosemias NBS comment
- Display Name
- Galactosemias newborn screening comment-discussion Nar (DBS)
- Consumer Name Alpha Get Info
- Galactosemias newborn screening comment-discussion, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.29
- Last Updated
- Version 2.73
- Order vs. Observation
- Observation
- Common Test Rank Get Info
- 17841
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 54079-9 | Galactosemia newborn screening panel |
| 54080-7 | Galactosemia newborn screening panel (SI units) |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Galactosemias screnning de recién nacidos comentario-discusión: |
| es-MX | Spanish (Mexico) | Comentario-discusión sobre la detección de galactosemias en recién nacidos: |
| fr-FR | French (France) | Galactosémie dépistage néonatal (commentaire-discussion): |
| fr-BE | French (Belgium) | Galactosémies Commentaires.screening néonatal.discussion: |
| it-IT | Italian (Italy) | Galattosemie, screening neonatale, commenti-discussione: Synonyms: Chimica Commento/discussione di screening neonatale per galattosemie Punto nel tempo (episodio) Sangue Spot sangue secco Testo |
| nl-NL | Dutch (Netherlands) | galactosemieën screening van pasgeborene commentaar-discussie: |
| pt-BR | Portuguese (Brazil) | Galactosemias na triagem neonatal comentários-discussão: Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Галактоземии новорожденный скрининг комментарий-дискуссия: Synonyms: Кровь Кровь сухая капля Описательный Текст Точка во времени; |
| tr-TR | Turkish (Turkey) | Galaktozemiler yenidoğan tarama öneri-tartışma: |
| zh-CN | Chinese (China) | 半乳糖血症 新生儿筛查注释-讨论: Synonyms: Asympt SCN 全血斑点(滤纸); |
54084-9 Galactose [Mass/volume] in DBS
Part Descriptions
LP15263-4 Galactose
Galactose (Gal) (also called brain sugar) is a type of sugar found in dairy products, in sugar beets and other gums and mucilages. It is also synthesized by the body, where it forms part of glycolipids and glycoproteins in several tissues. It is considered a nutritive sweetener because it has food energy. Galactose is less sweet than glucose and not very water-soluble. Galactan is a polymer of the sugar galactose. It is found in hemicellulose and can be converted to galactose by hydrolysis. Galactose is a monosaccharide constituent, together with glucose, of the disaccharide lactose. The hydrolysis of lactose to glucose and galactose is catalyzed by the enzyme beta-galactosidase, a lactase. In the human body, glucose is changed into galactose in order to enable the mammary glands to secrete lactose.
Copyright Text is available under the Creative Commons Attribution/Share-Alike License. See http://creativecommons.org/licenses/by-sa/3.0/ for details.
Source: Wikipedia, Galactose (Wikipedia)
LP15263-4 Galactose
An aldohexose that occurs naturally in the D-form in lactose, cerebrosides, gangliosides, and mucoproteins. Deficiency of galactosyl-1-phosphate uridyltransferase (GALACTOSE-1-PHOSPHATE URIDYL-TRANSFERASE DEFICIENCY DISEASE) causes an error in galactose metabolism called GALACTOSEMIA, resulting in elevations of galactose in the blood.
Source: National Library of Medicine, MeSH 2006
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Galactose
- Property
- MCnc
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- Galactose DBS-mCnc
- Display Name
- Galactose (DBS) [Mass/Vol]
- Consumer Name Alpha Get Info
- Galactose, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.26
- Last Updated
- Version 2.73
- Order vs. Observation
- Both
- Common Test Rank Get Info
- 14170
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 54079-9 | Galactosemia newborn screening panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Member of these Groups Get Info
| LOINC Group | Group Name |
|---|---|
| LG46708-0 | Galactose| |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-MX | Spanish (Mexico) | Galactosa: |
| es-ES | Spanish (Spain) | Galactosa: Synonyms: Cuantitativo |
| et-EE | Estonian (Estonia) | Galaktoos: Synonyms: Juhuslik Kvantitatiivne Veri |
| fr-CA | French (Canada) | Galactose: |
| fr-FR | French (France) | Galactose: |
| fr-BE | French (Belgium) | Galactose: |
| it-IT | Italian (Italy) | Galattosio: Synonyms: Chimica Concentrazione di Massa Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | galactose: |
| pt-BR | Portuguese (Brazil) | Galactose: Synonyms: Cerebrose; |
| ru-RU | Russian (Russian Federation) | Галактоза: Synonyms: Количественный Кровь Кровь сухая капля Массовая концентрация Точка во времени; |
| tr-TR | Turkish (Turkey) | Galaktoz: |
| zh-CN | Chinese (China) | 半乳糖: Synonyms: 乳单糖; |
Example Units
| Unit | Source |
|---|---|
| mg/dL | Example UCUM Units |
33288-2 Galactose 1 phosphate uridyl transferase [Presence] in DBS
Part Descriptions
LP14026-6 Galactose 1 phosphate uridyl transferase
Galactose-1-phosphate uridylyltransferase (or GALT) is an enzyme (EC 2.7.7.12) responsible for converting ingested galactose to glucose. GALT catalyzes the second step of the Leloir pathway of galactose metabolism. The expression of GALT is controlled by the actions of the FOXO3 gene. Deficiency of GALT causes classic galactosemia and can be fatal in the newborn period if lactose is not removed from the diet. Symptoms include ovarian failure, cataracts, and neurologic deficits.
Copyright Text is available under the Creative Commons Attribution/Share-Alike License. See http://creativecommons.org/licenses/by-sa/3.0/ for details.
Source: Wikipedia, Galactose-1-phosphate uridylyltransferase
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Galactose 1 phosphate uridyl transferase
- Property
- PrThr
- Time
- Pt
- System
- Bld.dot
- Scale
- Ord
- Method
Additional Names
- Short Name
- Gal1PUT DBS Ql
- Display Name
- Galactose 1 phosphate uridyl transferase Ql (DBS)
- Consumer Name Alpha Get Info
- Galactose 1 phosphate uridyl transferase, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.09
- Last Updated
- Version 2.73
- Change Reason
- The PrThr property is used for LOINC terms whose results are reported using an ordered categorical scale, regardless of whether or not an internal threshold was used to make that determination. This change was approved by the Laboratory LOINC Committee in June 2016.
- Order vs. Observation
- Both
- Common Test Rank Get Info
- 1408
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 54079-9 | Galactosemia newborn screening panel |
| 54080-7 | Galactosemia newborn screening panel (SI units) |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| de-AT | German (Austria) | Synonyms: Galactose-1-Phosphat-Uridyl-Transferase ql. /BT |
| es-ES | Spanish (Spain) | Galactosa 1 fosfato uridil transferasa: |
| es-MX | Spanish (Mexico) | Galactosa 1 fosfato uridil transferasa: |
| es-AR | Spanish (Argentina) | galactosa 1 fosfato uridiltransferasa: |
| et-EE | Estonian (Estonia) | Galaktoos-1-fosfaaturidüüli transferaas: Synonyms: Järgarvuline Juhuslik Veri |
| fr-CA | French (Canada) | Galactose 1-phosphate uridyl transférase: |
| fr-FR | French (France) | Galactose-1-phosphate uridyl transférase: |
| fr-BE | French (Belgium) | Galactose 1-phosphate uridyl transférase: |
| it-IT | Italian (Italy) | Galattosio 1 fosfato uridil transferasi: Synonyms: Chimica Presenza o Soglia Punto nel tempo (episodio) Sangue Spot sangue secco |
| ko-KR | Korean (Korea, Republic Of) | 갈락토스 1 인산염 우리딜 전이효소: |
| nl-NL | Dutch (Netherlands) | galactose-1-fosfaaturidyltransferase: |
| pt-BR | Portuguese (Brazil) | Galactose 1 Fosfato uridil transferase: Synonyms: Hexose-1-phosphate uridyltransferase; |
| ru-RU | Russian (Russian Federation) | Галактозо 1 фосфат уридил трансфераза: Synonyms: Галактозо-1-фосфат Кровь Кровь сухая капля Порядковый Точка во времени; |
| tr-TR | Turkish (Turkey) | Galaktoz 1 fosfat üridil transferaz: Synonyms: Mevcut |
| zh-CN | Chinese (China) | 半乳糖-1-磷酸尿苷酰转移酶: Synonyms: Ⅰ GAL-1-P; |
42906-8 Galactose 1 phosphate uridyl transferase [Enzymatic activity/volume] in DBS
Part Descriptions
LP14026-6 Galactose 1 phosphate uridyl transferase
Galactose-1-phosphate uridylyltransferase (or GALT) is an enzyme (EC 2.7.7.12) responsible for converting ingested galactose to glucose. GALT catalyzes the second step of the Leloir pathway of galactose metabolism. The expression of GALT is controlled by the actions of the FOXO3 gene. Deficiency of GALT causes classic galactosemia and can be fatal in the newborn period if lactose is not removed from the diet. Symptoms include ovarian failure, cataracts, and neurologic deficits.
Copyright Text is available under the Creative Commons Attribution/Share-Alike License. See http://creativecommons.org/licenses/by-sa/3.0/ for details.
Source: Wikipedia, Galactose-1-phosphate uridylyltransferase
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Galactose 1 phosphate uridyl transferase
- Property
- CCnc
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- Gal1PUT DBS-cCnc
- Display Name
- Galactose 1 phosphate uridyl transferase (DBS) [Catalytic activity/Vol]
- Consumer Name Alpha Get Info
- Galactose 1 phosphate uridyl transferase, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.16
- Last Updated
- Version 2.73
- Order vs. Observation
- Both
- Common Test Rank Get Info
- 19799
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 54079-9 | Galactosemia newborn screening panel |
| 54080-7 | Galactosemia newborn screening panel (SI units) |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Galactosa 1 fosfato uridil transferasa: Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Galactosa 1 fosfato uridil transferasa: |
| et-EE | Estonian (Estonia) | Galaktoos-1-fosfaaturidüüli transferaas: Synonyms: Juhuslik Kvantitatiivne Veri |
| fr-CA | French (Canada) | Galactose 1-phosphate uridyl transférase: |
| fr-FR | French (France) | Galactose-1-phosphate uridyl transférase: |
| fr-BE | French (Belgium) | Galactose 1-phosphate uridyl transférase: |
| it-IT | Italian (Italy) | Galattosio 1 fosfato uridil transferasi: Synonyms: Chimica Concentrazione Catalitica Punto nel tempo (episodio) Sangue Spot sangue secco |
| ko-KR | Korean (Korea, Republic Of) | 갈락토스 1 인산염 우리딜 전이효소: |
| nl-NL | Dutch (Netherlands) | galactose-1-fosfaaturidyltransferase: |
| pt-BR | Portuguese (Brazil) | Galactose 1 Fosfato uridil transferase: Synonyms: Hexose-1-phosphate uridyltransferase; |
| ru-RU | Russian (Russian Federation) | Галактозо 1 фосфат уридил трансфераза: Synonyms: Галактозо-1-фосфат Каталитическая концентрация Количественный Кровь Кровь сухая капля Точка во времени; |
| tr-TR | Turkish (Turkey) | Galaktoz 1 fosfat üridil transferaz: |
| zh-CN | Chinese (China) | 半乳糖-1-磷酸尿苷酰转移酶: Synonyms: Ⅰ GAL-1-P; |
Example Units
| Unit | Source |
|---|---|
| nmol/h/mL | Example UCUM Units |
40842-7 Galactose 1 phosphate [Mass/volume] in DBS
Part Descriptions
LP15586-8 Galactose 1 phosphate
Galactose-1-phosphate uridylyltransferase (or GALT) is an enzyme (EC 2.7.7.12) responsible for converting ingested galactose to glucose. Deficiency of GALT causes galactosemia. The GALT gene is located on the ninth chromosome (9p13).
Copyright Text is available under the Creative Commons Attribution/Share-Alike License. See http://creativecommons.org/licenses/by-sa/3.0/ for details.
Source: Wikipedia, Galactose 1 phosphate (Wikipedia)
LP15586-8 Galactose 1 phosphate
Measures galactose-1-phosphate concentrations when galactosemia patients are challenged with galactose load.
Source: Regenstrief Institute
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Galactose 1 phosphate
- Property
- MCnc
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- Gal1PO4 DBS-mCnc
- Display Name
- Galactose 1 phosphate (DBS) [Mass/Vol]
- Consumer Name Alpha Get Info
- Galactose 1 phosphate, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.15
- Last Updated
- Version 2.70
- Order vs. Observation
- Both
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 54079-9 | Galactosemia newborn screening panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| de-DE | German (Germany) | Galaktose-1-Phosphat: |
| es-ES | Spanish (Spain) | Galactosa 1 fosfato: Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Fosfato de galactosa 1: |
| et-EE | Estonian (Estonia) | Galaktoos-1-fosfaat: Synonyms: Juhuslik Kvantitatiivne Veri |
| fr-CA | French (Canada) | Galactose-1-phosphate: |
| fr-FR | French (France) | Galactose-1-phosphate: |
| fr-BE | French (Belgium) | Galactose-1-phosphate: |
| it-IT | Italian (Italy) | Galattosio 1 fosfato: Synonyms: Chimica Concentrazione di Massa Punto nel tempo (episodio) Sangue Spot sangue secco |
| ko-KR | Korean (Korea, Republic Of) | 갈락토스 1 인산염: |
| nl-NL | Dutch (Netherlands) | galactose-1-fosfaat: |
| pt-BR | Portuguese (Brazil) | Galactose 1 Fosfato: Synonyms: Phos; |
| ru-RU | Russian (Russian Federation) | Галактоза 1 фосфат: Synonyms: Галактозо-1-фосфат Количественный Кровь Кровь сухая капля Массовая концентрация Точка во времени; |
| tr-TR | Turkish (Turkey) | Galaktoz 1 fosfat: |
| zh-CN | Chinese (China) | 半乳糖-1-磷酸: Synonyms: Ⅰ GAL-1-P; |
Example Units
| Unit | Source |
|---|---|
| mg/dL | Example UCUM Units |
54081-5 Hemoglobinopathies newborn screening panel
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Hemoglobinopathies newborn screening panel
- Property
- -
- Time
- Pt
- System
- Bld.dot
- Scale
- -
- Method
Additional Names
- Short Name
- NB pnl Hemoglobinopathies DBS
- Display Name
- Hemoglobinopathies NBS panel (DBS)
- Consumer Name Alpha Get Info
- Hemoglobinopathies NBS Panel, Dried blood spot
Basic Attributes
- Class
- PANEL.HEM/BC
- Type
- Laboratory
- First Released
- Version 2.26
- Last Updated
- Version 2.77
- Order vs. Observation
- Order
- Common Test Rank Get Info
- 19207
- Panel Type
- Panel
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Panel de cribado neonatal de hemoglobinopatías: |
| es-MX | Spanish (Mexico) | Panel de cribado neonatal de hemoglobinopatías: |
| fr-FR | French (France) | Hémoglobinopathies dépistage néonatal panel: |
| fr-BE | French (Belgium) | Panel screening nouveau-né Hémoglobinopathies: |
| it-IT | Italian (Italy) | Emoglobinopatie, panel screening neonatale: Synonyms: Ematologia (coagulazione) conta differenziale Panel screening neonatale Panel screening neonatale per emoglobinopatie Punto nel tempo (episodio) Sangue Set di prescrizione per ematologia e conta del san Spot sangue secco |
| nl-NL | Dutch (Netherlands) | hemoglobineopathieën pasgeborene screening panel: |
| pl-PL | Polish (Poland) | Test przesiewowy wykrywania hemoglobinopatii u noworodków: |
| pt-BR | Portuguese (Brazil) | Hemoglobinopatias triagem neonatal,painel: Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Гемоглобинопатии новорождённый скрининг панель: Synonyms: Кровь Кровь сухая капля Точка во времени; |
| zh-CN | Chinese (China) | 血红蛋白病新生儿筛查组套: Synonyms: Asympt SCN 全血斑点(滤纸); |
64116-7 Hemoglobin observations newborn screening panel
Fully-Specified Name
- Component
- Hemoglobin observations newborn screening panel
- Property
- -
- Time
- Pt
- System
- Bld.dot
- Scale
- -
- Method
Additional Names
- Short Name
- Hb observations NBS pnl DBS
- Display Name
- Hemoglobin observations NBS panel (DBS)
- Consumer Name Alpha Get Info
- Hemoglobin Observations NBS Panel, Dried blood spot
Basic Attributes
- Class
- PANEL.HEM/BC
- Type
- Laboratory
- First Released
- Version 2.36
- Last Updated
- Version 2.77
- Order vs. Observation
- Order
- Common Test Rank Get Info
- 14194
- Panel Type
- Panel
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54081-5 | Hemoglobinopathies newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| de-DE | German (Germany) | Hämoglobinuntersuchung Neugeborenenscreening (Liste): |
| es-ES | Spanish (Spain) | Perfilde screening de observaciones de hemoglobina en recien nacidos: |
| es-MX | Spanish (Mexico) | Observaciones de hemoglobina panel de detección de recién nacidos: |
| fr-FR | French (France) | Hemoglobine dépistage néonatal panel: |
| it-IT | Italian (Italy) | Osservazioni emoglobina, panel screening neonatale: Synonyms: Ematologia (coagulazione) conta differenziale Panel screening neonatale Panel screening neonatale per osservazioni emoglob Punto nel tempo (episodio) Sangue Set di prescrizione per ematologia e conta del san Spot sangue secco |
| nl-NL | Dutch (Netherlands) | hemoglobine waarnemingen pasgeborene screeningspanel: |
| pl-PL | Polish (Poland) | Badania hemoglobiny w panelu przesiewowym noworodka: |
| ru-RU | Russian (Russian Federation) | Гемоглобина исследования новорожденных скринига панель: Synonyms: Кровь Кровь сухая капля Точка во времени; |
| zh-CN | Chinese (China) | 血红蛋白观测新生儿筛查组套: Synonyms: Asympt SCN 全血斑点(滤纸); |
64122-5 Hemoglobins that can be presumptively identified based on available controls in DBS
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Hemoglobins that can be presumptively identified based on available controls
- Property
- Find
- Time
- Pt
- System
- Bld.dot
- Scale
- Nom
- Method
Additional Names
- Short Name
- Hb pres ID based on avail contr DBS
- Display Name
- Hemoglobins that can be presumptively identified based on available controls Nom (DBS)
- Consumer Name Alpha Get Info
- Dried blood spot Hemoglobins that can be presumptively identified based on available controls test
Basic Attributes
- Class
- HEM/BC
- Type
- Laboratory
- First Released
- Version 2.36
- Last Updated
- Version 2.73
- Change Reason
- Changed answer list from "Normative" to "Example" to fit the current LOINC model.
- Order vs. Observation
- Observation
Example Answer List LL1511-6
| Answer | Code | Score | Answer ID |
|---|---|---|---|
| Hb F | LA16208-3 | ||
| Hb A | LA16209-1 | ||
| Hb A - indeterminate | LA16210-9 | ||
| Hb A2 | LA16211-7 | ||
| Hb A2 - elevated | LA16212-5 | ||
| Hb Bart's - low level | LA16213-3 | ||
| Hb Bart's - highly elevated | LA16214-1 | ||
| Hb C | LA13002-3 | ||
| Hb Constant Spring | LA16215-8 | ||
| Hb D | LA13003-1 | ||
| Hb D-Punjab | LA16216-6 | ||
| Hb D/G | LA16217-4 | ||
| Hb E | LA13005-6 | ||
| Hb G | LA16218-2 | ||
| Hb G-Philadelphia | LA16219-0 | ||
| Hb H | LA16220-8 | ||
| Hb Lepore Boston | LA16221-6 | ||
| Hb O-Arab | LA16222-4 | ||
| Hb S | LA13007-2 | ||
| Hb unidentified | LA16223-2 |
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54081-5 | Hemoglobinopathies newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| de-DE | German (Germany) | Hämoglobine, die auf der Grundlage der verfügbaren Kontrollen vermutlich identifiziert werden können: |
| es-ES | Spanish (Spain) | Hemoglobinas que presuntamente pueden ser identificadas basandose en controles disponibles: |
| es-MX | Spanish (Mexico) | Hemoglobinas que pueden identificarse presuntamente según los controles disponibles.: |
| fr-FR | French (France) | Hémoglobines identifiées par contrôles disponibles: |
| it-IT | Italian (Italy) | Emoglobine che possono essere presumibilmente identificate in base ai controlli disponibili: Synonyms: Ematologia (coagulazione) conta differenziale Osservazione Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | hemoglobinen die vermoedelijk kunnen worden geïdentificeerd op basis van beschikbaar controle materiaal: |
| pl-PL | Polish (Poland) | Hemoglobiny, które można wstępnie zidentyfikować na podstawie dostępnych badań kontrolnych: |
| ru-RU | Russian (Russian Federation) | Гемоглобин, который может быть предположительно идентифицирован на основании доступных средств: Synonyms: Кровь Кровь сухая капля Номинальный; |
| tr-TR | Turkish (Turkey) | Hemoglobinler, mevcut kontrol göre varsayımsal olarak saptanabilen: |
| zh-CN | Chinese (China) | 依据现有对照可推测确定的血红蛋白: Synonyms: 全血斑点(滤纸); |
64117-5 Most predominant hemoglobin in DBS
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Most predominant hemoglobin
- Property
- Find
- Time
- Pt
- System
- Bld.dot
- Scale
- Nom
- Method
Additional Names
- Short Name
- Most predominant Hb DBS
- Display Name
- Most predominant hemoglobin Nom (DBS)
- Consumer Name Alpha Get Info
- Most predominant hemoglobin, Dried blood spot
Basic Attributes
- Class
- HEM/BC
- Type
- Laboratory
- First Released
- Version 2.36
- Last Updated
- Version 2.73
- Change Reason
- Changed answer list from "Normative" to "Example" to fit the current LOINC model.
- Order vs. Observation
- Observation
Example Answer List LL1511-6
| Answer | Code | Score | Answer ID |
|---|---|---|---|
| Hb F | LA16208-3 | ||
| Hb A | LA16209-1 | ||
| Hb A - indeterminate | LA16210-9 | ||
| Hb A2 | LA16211-7 | ||
| Hb A2 - elevated | LA16212-5 | ||
| Hb Bart's - low level | LA16213-3 | ||
| Hb Bart's - highly elevated | LA16214-1 | ||
| Hb C | LA13002-3 | ||
| Hb Constant Spring | LA16215-8 | ||
| Hb D | LA13003-1 | ||
| Hb D-Punjab | LA16216-6 | ||
| Hb D/G | LA16217-4 | ||
| Hb E | LA13005-6 | ||
| Hb G | LA16218-2 | ||
| Hb G-Philadelphia | LA16219-0 | ||
| Hb H | LA16220-8 | ||
| Hb Lepore Boston | LA16221-6 | ||
| Hb O-Arab | LA16222-4 | ||
| Hb S | LA13007-2 | ||
| Hb unidentified | LA16223-2 |
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54081-5 | Hemoglobinopathies newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| de-DE | German (Germany) | Häufigstes Hämoglobin: |
| es-ES | Spanish (Spain) | Hemoglobina mas predominante: |
| es-MX | Spanish (Mexico) | Hemoglobina más predominante: |
| fr-FR | French (France) | Hémoglobine prédominante: |
| it-IT | Italian (Italy) | Emoglobina più predominante: Synonyms: Ematologia (coagulazione) conta differenziale Osservazione Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | meest overheersende hemoglobine: |
| ru-RU | Russian (Russian Federation) | Наиболее преобладающий гемоглобин: Synonyms: Кровь Кровь сухая капля Номинальный; |
| tr-TR | Turkish (Turkey) | En yaygın hemoglobin: |
| zh-CN | Chinese (China) | 最主要的血红蛋白: Synonyms: 全血斑点(滤纸); |
64118-3 Second most predominant hemoglobin in DBS
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Second most predominant hemoglobin
- Property
- Find
- Time
- Pt
- System
- Bld.dot
- Scale
- Nom
- Method
Additional Names
- Short Name
- 2nd most predominant Hb DBS
- Display Name
- Second most predominant hemoglobin Nom (DBS)
- Consumer Name Alpha Get Info
- Second most predominant hemoglobin, Dried blood spot
Basic Attributes
- Class
- HEM/BC
- Type
- Laboratory
- First Released
- Version 2.36
- Last Updated
- Version 2.73
- Change Reason
- Changed answer list from "Normative" to "Example" to fit the current LOINC model.
- Order vs. Observation
- Observation
Example Answer List LL1511-6
| Answer | Code | Score | Answer ID |
|---|---|---|---|
| Hb F | LA16208-3 | ||
| Hb A | LA16209-1 | ||
| Hb A - indeterminate | LA16210-9 | ||
| Hb A2 | LA16211-7 | ||
| Hb A2 - elevated | LA16212-5 | ||
| Hb Bart's - low level | LA16213-3 | ||
| Hb Bart's - highly elevated | LA16214-1 | ||
| Hb C | LA13002-3 | ||
| Hb Constant Spring | LA16215-8 | ||
| Hb D | LA13003-1 | ||
| Hb D-Punjab | LA16216-6 | ||
| Hb D/G | LA16217-4 | ||
| Hb E | LA13005-6 | ||
| Hb G | LA16218-2 | ||
| Hb G-Philadelphia | LA16219-0 | ||
| Hb H | LA16220-8 | ||
| Hb Lepore Boston | LA16221-6 | ||
| Hb O-Arab | LA16222-4 | ||
| Hb S | LA13007-2 | ||
| Hb unidentified | LA16223-2 |
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54081-5 | Hemoglobinopathies newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| de-DE | German (Germany) | Zweithäufigstes Hämoglobin: |
| es-ES | Spanish (Spain) | Segunda hemoglobina mas predominante: |
| es-MX | Spanish (Mexico) | Segunda hemoglobina más predominante: |
| fr-FR | French (France) | Hémoglobine prédominante 2nd: |
| it-IT | Italian (Italy) | Seconda emoglobina più predominante: Synonyms: Ematologia (coagulazione) conta differenziale Osservazione Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | tweede meest overheersende hemoglobine: |
| ru-RU | Russian (Russian Federation) | Второй наиболее преобладающий гемоглобин: Synonyms: Кровь Кровь сухая капля Номинальный; |
| tr-TR | Turkish (Turkey) | İkinci en yaygın hemoglobin: |
| zh-CN | Chinese (China) | 第2位最主要的血红蛋白: Synonyms: 2nd 全血斑点(滤纸); |
64119-1 Third most predominant hemoglobin in DBS
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Third most predominant hemoglobin
- Property
- Find
- Time
- Pt
- System
- Bld.dot
- Scale
- Nom
- Method
Additional Names
- Short Name
- 3rd most predominant Hb DBS
- Display Name
- Third most predominant hemoglobin Nom (DBS)
- Consumer Name Alpha Get Info
- Third most predominant hemoglobin, Dried blood spot
Basic Attributes
- Class
- HEM/BC
- Type
- Laboratory
- First Released
- Version 2.36
- Last Updated
- Version 2.73
- Change Reason
- Changed answer list from "Normative" to "Example" to fit the current LOINC model.
- Order vs. Observation
- Observation
Example Answer List LL1511-6
| Answer | Code | Score | Answer ID |
|---|---|---|---|
| Hb F | LA16208-3 | ||
| Hb A | LA16209-1 | ||
| Hb A - indeterminate | LA16210-9 | ||
| Hb A2 | LA16211-7 | ||
| Hb A2 - elevated | LA16212-5 | ||
| Hb Bart's - low level | LA16213-3 | ||
| Hb Bart's - highly elevated | LA16214-1 | ||
| Hb C | LA13002-3 | ||
| Hb Constant Spring | LA16215-8 | ||
| Hb D | LA13003-1 | ||
| Hb D-Punjab | LA16216-6 | ||
| Hb D/G | LA16217-4 | ||
| Hb E | LA13005-6 | ||
| Hb G | LA16218-2 | ||
| Hb G-Philadelphia | LA16219-0 | ||
| Hb H | LA16220-8 | ||
| Hb Lepore Boston | LA16221-6 | ||
| Hb O-Arab | LA16222-4 | ||
| Hb S | LA13007-2 | ||
| Hb unidentified | LA16223-2 |
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54081-5 | Hemoglobinopathies newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| de-DE | German (Germany) | Dritthäufigstes Hämoglobin: |
| es-ES | Spanish (Spain) | Tercera hemoglobina mas predominante: |
| es-MX | Spanish (Mexico) | Tercera hemoglobina más predominante: |
| fr-FR | French (France) | Hémoglobine prédominante 3ème: |
| it-IT | Italian (Italy) | Terza emoglobina più predominante: Synonyms: Ematologia (coagulazione) conta differenziale Osservazione Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | derde meest overheersende hemoglobine: |
| ru-RU | Russian (Russian Federation) | Третий наиболее преобладающий гемоглобин: Synonyms: Кровь Кровь сухая капля Номинальный; |
| tr-TR | Turkish (Turkey) | Üçüncü en yaygın hemoglobin: |
| zh-CN | Chinese (China) | 第3位最主要的血红蛋白: Synonyms: 全血斑点(滤纸); |
64120-9 Fourth most predominant hemoglobin in DBS
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Fourth most predominant hemoglobin
- Property
- Find
- Time
- Pt
- System
- Bld.dot
- Scale
- Nom
- Method
Additional Names
- Short Name
- 4th most predominant Hb DBS
- Display Name
- Fourth most predominant hemoglobin Nom (DBS)
- Consumer Name Alpha Get Info
- Fourth most predominant hemoglobin, Dried blood spot
Basic Attributes
- Class
- HEM/BC
- Type
- Laboratory
- First Released
- Version 2.36
- Last Updated
- Version 2.73
- Change Reason
- Changed answer list from "Normative" to "Example" to fit the current LOINC model.
- Order vs. Observation
- Observation
Example Answer List LL1511-6
| Answer | Code | Score | Answer ID |
|---|---|---|---|
| Hb F | LA16208-3 | ||
| Hb A | LA16209-1 | ||
| Hb A - indeterminate | LA16210-9 | ||
| Hb A2 | LA16211-7 | ||
| Hb A2 - elevated | LA16212-5 | ||
| Hb Bart's - low level | LA16213-3 | ||
| Hb Bart's - highly elevated | LA16214-1 | ||
| Hb C | LA13002-3 | ||
| Hb Constant Spring | LA16215-8 | ||
| Hb D | LA13003-1 | ||
| Hb D-Punjab | LA16216-6 | ||
| Hb D/G | LA16217-4 | ||
| Hb E | LA13005-6 | ||
| Hb G | LA16218-2 | ||
| Hb G-Philadelphia | LA16219-0 | ||
| Hb H | LA16220-8 | ||
| Hb Lepore Boston | LA16221-6 | ||
| Hb O-Arab | LA16222-4 | ||
| Hb S | LA13007-2 | ||
| Hb unidentified | LA16223-2 |
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54081-5 | Hemoglobinopathies newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| de-DE | German (Germany) | Vierthäufigstes Hämoglobin: |
| es-ES | Spanish (Spain) | Cuarta hemoglobina mas predominante: |
| es-MX | Spanish (Mexico) | Cuarto hemoglobina más predominante: |
| fr-FR | French (France) | Hémoglobine prédominante 4ème: |
| it-IT | Italian (Italy) | Quarta emoglobina più predominante: Synonyms: Ematologia (coagulazione) conta differenziale Osservazione Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | vierde meest overheersende hemoglobine: |
| ru-RU | Russian (Russian Federation) | Четвертый наиболее преобладающий гемоглобин: Synonyms: Кровь Кровь сухая капля Номинальный; |
| tr-TR | Turkish (Turkey) | Dördüncü en yaygın hemoglobin: |
| zh-CN | Chinese (China) | 第4位最主要的血红蛋白: Synonyms: 全血斑点(滤纸); |
64121-7 Fifth most predominant hemoglobin in DBS
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Fifth most predominant hemoglobin
- Property
- Find
- Time
- Pt
- System
- Bld.dot
- Scale
- Nom
- Method
Additional Names
- Short Name
- 5th most predominant Hb DBS
- Display Name
- Fifth most predominant hemoglobin Nom (DBS)
- Consumer Name Alpha Get Info
- Fifth most predominant hemoglobin, Dried blood spot
Basic Attributes
- Class
- HEM/BC
- Type
- Laboratory
- First Released
- Version 2.36
- Last Updated
- Version 2.73
- Change Reason
- Changed answer list from "Normative" to "Example" to fit the current LOINC model.
- Order vs. Observation
- Observation
Example Answer List LL1511-6
| Answer | Code | Score | Answer ID |
|---|---|---|---|
| Hb F | LA16208-3 | ||
| Hb A | LA16209-1 | ||
| Hb A - indeterminate | LA16210-9 | ||
| Hb A2 | LA16211-7 | ||
| Hb A2 - elevated | LA16212-5 | ||
| Hb Bart's - low level | LA16213-3 | ||
| Hb Bart's - highly elevated | LA16214-1 | ||
| Hb C | LA13002-3 | ||
| Hb Constant Spring | LA16215-8 | ||
| Hb D | LA13003-1 | ||
| Hb D-Punjab | LA16216-6 | ||
| Hb D/G | LA16217-4 | ||
| Hb E | LA13005-6 | ||
| Hb G | LA16218-2 | ||
| Hb G-Philadelphia | LA16219-0 | ||
| Hb H | LA16220-8 | ||
| Hb Lepore Boston | LA16221-6 | ||
| Hb O-Arab | LA16222-4 | ||
| Hb S | LA13007-2 | ||
| Hb unidentified | LA16223-2 |
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54081-5 | Hemoglobinopathies newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| de-DE | German (Germany) | Fünfthäufigstes Hämoglobin: |
| es-ES | Spanish (Spain) | Quinta hemoglobina mas predominante: |
| es-MX | Spanish (Mexico) | Quinta hemoglobina más predominante: |
| fr-FR | French (France) | Hémoglobine prédominante 5ème: |
| it-IT | Italian (Italy) | Quinta emoglobina più predominante: Synonyms: Ematologia (coagulazione) conta differenziale Osservazione Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | vijfde meest overheersende hemoglobine: |
| ru-RU | Russian (Russian Federation) | Пятый наиболее преобладающий гемоглобин: Synonyms: Кровь Кровь сухая капля Номинальный; |
| tr-TR | Turkish (Turkey) | Beşinci en yaygın hemoglobin: |
| zh-CN | Chinese (China) | 第5位最主要的血红蛋白: Synonyms: 全血斑点(滤纸); |
46740-7 Hemoglobin disorders newborn screen interpretation
Part Descriptions
LP31618-9 Hemoglobin disorders
A group of inherited disorders characterized by structural alterations within the hemoglobin molecule.
Source: National Library of Medicine, MeSH 2006
Observation Required in Panel
Required
Fully-Specified Name
- Component
- Hemoglobin disorders
- Property
- Imp
- Time
- Pt
- System
- Bld.dot
- Scale
- Nom
- Method
Additional Names
- Short Name
- Hemoglobin disorders DBS-Imp
- Display Name
- Hemoglobin disorders (DBS) [Interp]
- Consumer Name Alpha Get Info
- Hemoglobin disorders, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.19
- Last Updated
- Version 2.73
- Change Reason
- Changed answer list from "Normative" to "Preferred" to fit the current LOINC model.
- Order vs. Observation
- Observation
- Common Test Rank Get Info
- 543
Preferred Answer List LL840-0
| Answer | Code | Score | Answer ID |
|---|---|---|---|
| In range | LA18592-8 | ||
| Borderline | LA4259-3 | ||
| Indeterminate Copyright http://snomed.info/sct ID:82334004 Indeterminate (qualifier value) | LA11884-6 | ||
| Out of range | LA18593-6 | ||
| Out of range requiring further dried blood spot testing for at least one condition | LA12430-7 | ||
| Out of range requiring immediate referral | LA25817-0 | ||
| Out of range requiring immediate second-tier testing for at least one condition | LA12431-5 | ||
| Out of range requiring deferred follow-up for at least one condition | LA18594-4 | ||
| One or more tests pending | LA16204-2 | ||
| Specimen unsatisfactory for at least one condition | LA16205-9 |
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54081-5 | Hemoglobinopathies newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Hemoglobinopatías: |
| es-MX | Spanish (Mexico) | Trastornos de la hemoglobina: |
| fr-CA | French (Canada) | Hémoglobinopathies: |
| fr-FR | French (France) | Troubles de l'hémoglobine: |
| fr-BE | French (Belgium) | Hémoglobinopathies: Synonyms: Hb |
| it-IT | Italian (Italy) | Emoglobina, disturbi: Synonyms: Chimica disturbi di emoglobina Impressione/interpretazione di studio Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | hemoglobine-aandoeningen: |
| pt-BR | Portuguese (Brazil) | Hemoglobinopatias: Synonyms: Hemoglobinopathies; |
| ru-RU | Russian (Russian Federation) | Гемоглобинозы: Synonyms: Впечатление/интерпретация исследования Кровь Кровь сухая капля Номинальный; |
| tr-TR | Turkish (Turkey) | Hemoglobin bozuklukları: |
| zh-CN | Chinese (China) | 血红蛋白病: Synonyms: 全血斑点(滤纸); |
Third Party Copyright
This material includes SNOMED Clinical Terms® (SNOMED CT®) which is used by permission of the International Health Terminology Standards Development Organisation (IHTSDO) under license. All rights reserved. SNOMED CT® was originally created by The College of American Pathologists. "SNOMED" and "SNOMED CT" are registered trademarks of the IHTSDO.
This material includes content from the US Edition to SNOMED CT, which is developed and maintained by the U.S. National Library of Medicine and is available to authorized UMLS Metathesaurus Licensees from the UTS Downloads site at https://uts.nlm.nih.gov.
Use of SNOMED CT content is subject to the terms and conditions set forth in the SNOMED CT Affiliate License Agreement. It is the responsibility of those implementing this product to ensure they are appropriately licensed and for more information on the license, including how to register as an Affiliate Licensee, please refer to http://www.snomed.org/snomed-ct/get-snomed-ct or info@snomed.org<mailto:info@snomed.org>. This may incur a fee in SNOMED International non-Member countries.
57703-1 Hemoglobin disorders newborn screening comment-discussion
Part Descriptions
LP31618-9 Hemoglobin disorders
A group of inherited disorders characterized by structural alterations within the hemoglobin molecule.
Source: National Library of Medicine, MeSH 2006
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Hemoglobin disorders newborn screening comment-discussion
- Property
- Txt
- Time
- Pt
- System
- Bld.dot
- Scale
- Nar
- Method
Additional Names
- Short Name
- Hemoglobin disorders NBS comment
- Display Name
- Hemoglobin disorders newborn screening comment-discussion Nar (DBS)
- Consumer Name Alpha Get Info
- Hemoglobin disorders newborn screening comment-discussion, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.29
- Last Updated
- Version 2.73
- Order vs. Observation
- Observation
- Common Test Rank Get Info
- 17794
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54081-5 | Hemoglobinopathies newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Hemoglobinopatías screnning de recién nacidos comentario-discusión: |
| es-MX | Spanish (Mexico) | Trastornos de la hemoglobina cribado neonatal comentario / discusión: |
| fr-FR | French (France) | Troubles de l'hémoglobine dépistage néonatal (commentaire-discussion): |
| fr-BE | French (Belgium) | Hémoglobinopathies Commentaires.screening néonatal.discussion: Synonyms: Hb |
| it-IT | Italian (Italy) | Emoglobina, disturbi, screening neonatale, commenti-discussione: Synonyms: Chimica Commento/discussione di screeening neonatale per disturbi emoglobinici disturbi di emoglobina Punto nel tempo (episodio) Sangue Spot sangue secco Testo |
| nl-NL | Dutch (Netherlands) | hemoglobine-aandoeningen screening van pasgeborene commentaar-discussie: |
| pl-PL | Polish (Poland) | Hemoglobinopatie komentarz-dyskusja nad badaniami przesiewowymi noworodka: Synonyms: Badania przesiewowe noworodków w kierunku zaburzeń hemoglobiny komentarz-dyskusja |
| pt-BR | Portuguese (Brazil) | Hemoglobinopatias na triagem neonatal comentários-discussão: Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Гемоглобинозы новорожденный скрининг комментарий-дискуссия: Synonyms: Кровь Кровь сухая капля Описательный Текст Точка во времени; |
| tr-TR | Turkish (Turkey) | Hemoglobin bozuklukları yenidoğan tarama öneri-tartışma: |
| zh-CN | Chinese (China) | 血红蛋白病 新生儿筛查注释-讨论: Synonyms: Asympt SCN 全血斑点(滤纸); |
71592-0 Hemoglobinopathies conditions suspected [Identifier] in DBS
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Hemoglobinopathies conditions suspected
- Property
- Prid
- Time
- Pt
- System
- Bld.dot
- Scale
- Nom
- Method
Additional Names
- Short Name
- Hemoglobinopathies suspected DBS
- Display Name
- Hemoglobinopathies conditions suspected Nom (DBS)
- Consumer Name Alpha Get Info
- Hemoglobinopathies conditions suspected, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.40
- Last Updated
- Version 2.61
- Change Reason
- Changed answer list from "Normative" to "Example" to fit the current LOINC model.
- Order vs. Observation
- Observation
Example Answer List LL2094-2
| Answer | Code | Score | Answer ID |
|---|---|---|---|
| None Copyright http://snomed.info/sct ID:260413007 None (qualifier value) | LA137-2 | ||
| Likely transfusion Copyright http://snomed.info/sct ID:10593005 Posttransfusion state (finding) | LA18557-1 | ||
| Hb SS-disease (sickle cell anemia) Copyright http://snomed.info/sct ID:127040003 Sickle cell-hemoglobin SS disease (disorder) | LA12614-6 | ||
| Hb S (sickle)-carrier Copyright http://snomed.info/sct ID:16402000 Sickle cell trait (disorder) | LA12606-2 | ||
| Hb S beta plus thalassemia Copyright http://snomed.info/sct ID:127042006 Sickle cell beta plus thalassemia (disorder) | LA18558-9 | ||
| Hb S beta zero thalassemia Copyright http://snomed.info/sct ID:127043001 Sickle cell-beta^0^-thalassemia (disorder) | LA18559-7 | ||
| Hb S beta-thalassemia Copyright http://snomed.info/sct ID:127041004 Sickle cell-beta-thalassemia (disorder) | LA12615-3 | ||
| Hb SC-disease Copyright http://snomed.info/sct ID:35434009 Sickle cell-hemoglobin C disease (disorder) | LA12616-1 | ||
| Hb SD-disease Copyright http://snomed.info/sct ID:25472008 Sickle cell-hemoglobin D disease (disorder) | LA12617-9 | ||
| Hb SE-disease Copyright http://snomed.info/sct ID:47024008 Sickle cell-hemoglobin E disease (disorder) | LA12618-7 | ||
| Hb S,O-Arab | LA13012-2 | ||
| Hb S variant | LA18560-5 | ||
| Hb S/Hereditary persistence of fetal hemoglobin Copyright http://snomed.info/sct ID:234391009 Sickle cell anemia with high hemoglobin F (disorder) | LA18561-3 | ||
| Homozygous Hereditary persistence of fetal hemoglobin Copyright http://snomed.info/sct ID:191201002 Hereditary persistence of fetal hemoglobin (disorder) | LA18562-1 | ||
| Beta plus thalassemia Copyright http://snomed.info/sct ID:79592006 Beta plus thalassemia (disorder) | LA18563-9 | ||
| Hb beta zero-thalassemia Copyright http://snomed.info/sct ID:86715000 Beta zero thalassemia (disorder) | LA12611-2 | ||
| Beta thalassemia Copyright http://snomed.info/sct ID:65959000 beta Thalassemia (disorder) | LA18564-7 | ||
| Hb C-disease Copyright http://snomed.info/sct ID:51053007 Hemoglobin C disease (disorder) | LA12607-0 | ||
| Hb C-carrier Copyright http://snomed.info/sct ID:76050008 Hemoglobin C trait (disorder) | LA12602-1 | ||
| Hb C beta plus thalassemia Copyright http://snomed.info/sct ID:119691000119106 Hemoglobin C/beta thalassemia disease (disorder) | LA18565-4 | ||
| Hb C beta zero thalassemia Copyright http://snomed.info/sct ID:119691000119106 Hemoglobin C/beta thalassemia disease (disorder) | LA18566-2 | ||
| Hb C beta-thalassemia Copyright http://snomed.info/sct ID:119691000119106 Hemoglobin C/beta thalassemia disease (disorder) | LA12608-8 | ||
| Hb Constant Spring carrier | LA19957-2 | ||
| Hb D-disease | LA12609-6 | ||
| Hb D-carrier Copyright http://snomed.info/sct ID:7391009 Hemoglobin D trait (disorder) | LA12603-9 | ||
| Hb D beta plus thalassemia | LA18567-0 | ||
| Hb D beta zero thalassemia | LA18568-8 | ||
| Hb D beta-thalassemia Copyright http://snomed.info/sct ID:119701000119106 Hemoglobin D/beta thalassemia disease (disorder) | LA12610-4 | ||
| Hb E-disease Copyright http://snomed.info/sct ID:25065001 Hemoglobin E disease (disorder) | LA12612-0 | ||
| Hb E-carrier Copyright http://snomed.info/sct ID:46248003 Hemoglobin E trait (disorder) | LA12604-7 | ||
| Hb E beta plus thalassemia Copyright http://snomed.info/sct ID:234392002 Hemoglobin E/beta thalassemia disease (disorder) | LA18569-6 | ||
| Hb E beta zero thalassemia Copyright http://snomed.info/sct ID:234392002 Hemoglobin E/beta thalassemia disease (disorder) | LA18570-4 | ||
| Hb E delta beta thalassemia Copyright http://snomed.info/sct ID:234392002 Hemoglobin E/beta thalassemia disease (disorder) | LA18571-2 | ||
| Hb E beta-thalassemia Copyright http://snomed.info/sct ID:234392002 Hemoglobin E/beta thalassemia disease (disorder) | LA12613-8 | ||
| Hb G disease | LA18572-0 | ||
| Hb G carrier | LA18573-8 | ||
| Hb G beta plus thalassemia | LA18574-6 | ||
| Hb G beta thalassemia | LA18575-3 | ||
| Hb G beta zero thalassemia | LA18576-1 | ||
| Hb D/G disease | LA18577-9 | ||
| Hb D/G carrier | LA18578-7 | ||
| Hb D/G beta plus thalassemia | LA18579-5 | ||
| Hb D/G beta thalassemia | LA18580-3 | ||
| Hb D/G beta zero thalassemia | LA18581-1 | ||
| Hb O-Arab carrier | LA12605-4 | ||
| Alpha thalassemia major Copyright http://snomed.info/sct ID:5300004 Hemoglobin Bart's hydrops syndrome (disorder) | LA18582-9 | ||
| Alpha thalassemia trait Copyright http://snomed.info/sct ID:191187006 Alpha trait thalassemia (disorder) | LA18583-7 | ||
| Hb H disease Copyright http://snomed.info/sct ID:48553001 Hemoglobin H disease (disorder) | LA18584-5 | ||
| Hb H Constant Spring disease Copyright http://snomed.info/sct ID:447117006 Hemoglobin H constant spring thalassemia (disorder) | LA18585-2 | ||
| Hb H with other variant point mutations | LA18586-0 | ||
| Other Hb disease Copyright http://snomed.info/sct ID:123772008 Homozygous hemoglobinopathy (disorder) | LA18587-8 | ||
| Other Hb carrier | LA18588-6 | ||
| Other beta plus thalassemia | LA18589-4 | ||
| Other beta zero thalassemia | LA18590-2 | ||
| Other beta thalassemia | LA18591-0 |
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54081-5 | Hemoglobinopathies newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Condiciones de susceptibilidad de hemoglobinopatías: |
| es-MX | Spanish (Mexico) | Sospecha de condiciones de hemoglobinopatías: |
| fr-FR | French (France) | Hémoglobinopathies conditions suspectées: |
| it-IT | Italian (Italy) | Emoglobinopatie, condizioni sospette: Synonyms: Chimica Presenza o Identità Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | hemoglobinopathie-aandoeningen vermoed: Synonyms: hemoglobinopathie aandoeningen vermoed |
| pl-PL | Polish (Poland) | Podejrzenie hemoglobinopatii: |
| pt-BR | Portuguese (Brazil) | Hemoglobinopatias condições suspeitas: |
| ru-RU | Russian (Russian Federation) | Гемоглобинопатии состояние заподозренное: Synonyms: Кровь Кровь сухая капля Номинальный; |
| tr-TR | Turkish (Turkey) | Hemoglobinopati durumları süphelenilen: |
| zh-CN | Chinese (China) | 所怀疑的血红蛋白病: Synonyms: 全血斑点(滤纸); |
Third Party Copyright
This material includes SNOMED Clinical Terms® (SNOMED CT®) which is used by permission of the International Health Terminology Standards Development Organisation (IHTSDO) under license. All rights reserved. SNOMED CT® was originally created by The College of American Pathologists. "SNOMED" and "SNOMED CT" are registered trademarks of the IHTSDO.
This material includes content from the US Edition to SNOMED CT, which is developed and maintained by the U.S. National Library of Medicine and is available to authorized UMLS Metathesaurus Licensees from the UTS Downloads site at https://uts.nlm.nih.gov.
Use of SNOMED CT content is subject to the terms and conditions set forth in the SNOMED CT Affiliate License Agreement. It is the responsibility of those implementing this product to ensure they are appropriately licensed and for more information on the license, including how to register as an Affiliate Licensee, please refer to http://www.snomed.org/snomed-ct/get-snomed-ct or info@snomed.org<mailto:info@snomed.org>. This may incur a fee in SNOMED International non-Member countries.
54072-4 Hemoglobin A/Hemoglobin.total in DBS
Part Descriptions
LP14554-7 Hemoglobin A
Normal adult human hemoglobin. The globin moiety consists of two alpha and two beta chains.
Source: National Library of Medicine, MeSH 2006
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Hemoglobin A/Hemoglobin.total
- Property
- MFr
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- Hgb A MFr DBS
- Display Name
- Hemoglobin A (DBS) [Mass fraction]
- Consumer Name Alpha Get Info
- Hemoglobin A/Total Hgb, Dried blood spot
Basic Attributes
- Class
- HEM/BC
- Type
- Laboratory
- First Released
- Version 2.26
- Last Updated
- Version 2.61
- Order vs. Observation
- Observation
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54081-5 | Hemoglobinopathies newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| de-DE | German (Germany) | Hämoglobin A/Hämoglobin.gesamt: |
| es-ES | Spanish (Spain) | Hemoglobina A/Hemoglobina.total: Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Hemoglobina A / Hemoglobina total: |
| et-EE | Estonian (Estonia) | Hemoglobiin A/hemoglobiin.üld: Synonyms: Juhuslik Kvantitatiivne Veri |
| fr-CA | French (Canada) | Hémoglobine A/Hémoglobine.totale: |
| fr-FR | French (France) | Hémoglobine A/hémoglobine totale: |
| fr-BE | French (Belgium) | Hémoglobine A/Hémoglobine.totale: Synonyms: Hb Hb A Hb.totale |
| it-IT | Italian (Italy) | Emoglobina A/Emoglobina.totale: Synonyms: Ematologia (coagulazione) conta differenziale Frazione di massa Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | hemoglobine A/hemoglobine.totaal: |
| pl-PL | Polish (Poland) | Hemoglobina A/hemoglobina całkowita: Synonyms: Hemoglobina A/Hemoglobina całkowita |
| pt-BR | Portuguese (Brazil) | Hemoglobina A/Hemoglobina.total: Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Гемоглобин А/Гемоглобин.общий: Synonyms: Количественный Кровь Кровь сухая капля Массовая доля Точка во времени; |
| tr-TR | Turkish (Turkey) | Hemoglobin A/Hemoglobin.total: |
| zh-CN | Chinese (China) | 血红蛋白 A/血红蛋白.总计: Synonyms: A 型 HbA; |
Example Units
| Unit | Source |
|---|---|
| % | Example UCUM Units |
54069-0 Hemoglobin Barts/Hemoglobin.total in DBS
Part Descriptions
LP16418-3 Hemoglobin Barts
Hemoglobin Barts is a relatively common hemoglobin variant consisting of four gamma chains. Hemoglobin Barts is an extremely high affinity hemoglobin that is not effective at delivering oxygen to tissues. Hemoglobin Barts is only seen during the newborn period and usually indicates that one or more of the baby's alpha-globin genes are deleted, resulting in alpha-thalassemia. Alpha thalassemia is caused by deletions of the alpha globin genes on chromosome 16. Normal patients have four copies of the alpha-globin gene, 2 on each chromosome. A silent carrier will have one deleted alpha gene and usually result in a benign condition. Alpha thalassmia trait occurs when there are two deleted alpha genes, resulting in mild or no anemia with microcytosis and hypochromia. Hemoglobin H disease results from the deletion of three alpha genes with resultant moderately severe alpha thalassemia. Most patients are anemic and display some degree of splenomegaly. Fetal hydrops syndrome occurs when all four alpha genes are deleted. Fetal hydrops is not compatible with life and death occurs in utero or during early infancy.Carrier states for alpha thalassemia are very common in the African, Meditteranean and Asian populations. In general, only the loss of one or two genes is seen in African Americans. Asian and Meditteranean populations may have all types of alpha thalassemia. Information from The Georgia Comphensive Sickle Cell Center at Grady Health System, Emory University School of Medicine Department of Pediatrics, Atlanta, GA at www.scinfo.org, accessed 2007 11 02, and The Utah Department of Health at www.health.utah.gov, accessed 2007 11 02.
Source: Regenstrief Institute
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Hemoglobin Barts/Hemoglobin.total
- Property
- MFr
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- Hgb Barts MFr DBS
- Display Name
- Hemoglobin Barts (DBS) [Mass fraction]
- Consumer Name Alpha Get Info
- Hemoglobin barts/Total Hgb, Dried blood spot
Basic Attributes
- Class
- HEM/BC
- Type
- Laboratory
- First Released
- Version 2.26
- Last Updated
- Version 2.61
- Order vs. Observation
- Observation
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54081-5 | Hemoglobinopathies newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Hemoglobina Barts/Hemoglobina.total: Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Barts de hemoglobina / hemoglobina total: |
| fr-CA | French (Canada) | Hémoglobine Bart/Hémoglobine.totale: |
| fr-FR | French (France) | Hémoglobine Barts/hémoglobine totale: |
| fr-BE | French (Belgium) | Hémoglobine Bart/Hémoglobine.totale: Synonyms: Hb Hb Bart Hb.totale |
| it-IT | Italian (Italy) | Emoglobina Bart/Emoglobina.totale: Synonyms: Ematologia (coagulazione) conta differenziale Emoglobina di Bart Frazione di massa Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | hemoglobine Barts/hemoglobine.totaal: |
| pl-PL | Polish (Poland) | Hemoglobina Barts/hemoglobina całkowita: Synonyms: Hemoglobina Barta/Hemoglobina całkowita |
| pt-BR | Portuguese (Brazil) | Hemoglobina Barts/Hemoglobina.total: Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Гемоглобин Barts/Гемоглобин.общий: Synonyms: Количественный Кровь Кровь сухая капля Массовая доля Точка во времени; |
| tr-TR | Turkish (Turkey) | Hemoglobin Barts/Hemoglobin.total: |
| zh-CN | Chinese (China) | 血红蛋白 Barts/血红蛋白.总计: Synonyms: Bart Bart's Hgb Barts MFr 全体数量 全血斑点(滤纸); |
Example Units
| Unit | Source |
|---|---|
| % | Example UCUM Units |
54073-2 Hemoglobin C/Hemoglobin.total in DBS
Part Descriptions
LP16420-9 Hemoglobin C
A commonly occurring abnormal hemoglobin in which lysine replaces a glutamic acid residue at the sixth position of the beta chains. It results in reduced plasticity of erythrocytes.
Source: National Library of Medicine, MeSH 2006
LP16420-9 Hemoglobin C
Hemoglobin C (abbreviated as Hb C or HbC) is an abnormal hemoglobin with substitution of a glutamic acid residue for a lysine residue at the 6th position of the β-globin chain.
This mutated form reduces the normal plasticity of host erythrocytes causing a hemoglobinopathy. In those who are heterozygous for the mutation, about 28-44% of total hemoglobin (Hb) is HbC, and no anemia develops. In homozygotes, nearly all Hb is in the HbC form, resulting in mild hemolytic anemia.
Target cells, microspherocytes and HbC crystals are found in a blood smear from a homozygous patient.
Copyright Text is available under the Creative Commons Attribution/Share-Alike License. See http://creativecommons.org/licenses/by-sa/3.0/ for details.
Source: Wikipedia, Wikipedia
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Hemoglobin C/Hemoglobin.total
- Property
- MFr
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- Hgb C MFr DBS
- Display Name
- Hemoglobin C (DBS) [Mass fraction]
- Consumer Name Alpha Get Info
- Hemoglobin C/Total Hgb, Dried blood spot
Basic Attributes
- Class
- HEM/BC
- Type
- Laboratory
- First Released
- Version 2.26
- Last Updated
- Version 2.61
- Order vs. Observation
- Observation
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54081-5 | Hemoglobinopathies newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| de-DE | German (Germany) | Hämoglobin C/Hämoglobin.gesamt: |
| es-ES | Spanish (Spain) | Hemoglobina C/Hemoglobina.total: Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Hemoglobina C / Hemoglobina total: |
| et-EE | Estonian (Estonia) | Hemoglobiin C/hemoglobiin.üld: Synonyms: Juhuslik Kvantitatiivne Veri |
| fr-CA | French (Canada) | Hémoglobine C/Hémoglobine.totale: |
| fr-FR | French (France) | Hémoglobine C/hémoglobine totale: |
| fr-BE | French (Belgium) | Hémoglobine C/Hémoglobine.totale: Synonyms: Hb Hb.totale HbC |
| it-IT | Italian (Italy) | Emoglobina C/Emoglobina.totale: Synonyms: Ematologia (coagulazione) conta differenziale Frazione di massa Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | hemoglobine C/hemoglobine.totaal: |
| pl-PL | Polish (Poland) | Hemoglobina C/hemoglobina całkowita: Synonyms: Hemoglobina C/Hemoglobina całkowita |
| pt-BR | Portuguese (Brazil) | Hemoglobina C/Hemoglobina.total: Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Гемоглобин С/Гемоглобин.общий: Synonyms: Количественный Кровь Кровь сухая капля Массовая доля Точка во времени; |
| tr-TR | Turkish (Turkey) | Hemoglobin C/Hemoglobin.total: |
| zh-CN | Chinese (China) | 血红蛋白 C/血红蛋白.总计: Synonyms: C 型; |
Example Units
| Unit | Source |
|---|---|
| % | Example UCUM Units |
54070-8 Hemoglobin D/Hemoglobin.total in DBS
Part Descriptions
LP16424-1 Hemoglobin D
Hemoglobin D (HbD) is a common hemoglobin variant that occurs primarily in north-west India, Pakistan and Iran. Hemoglobin D disease occurs when an individual inherits two copies of the HbD gene. It is a rare and relatively mild disease associated with mild anemia. HbD levels can be detected electrophoretically and compared to the total hemoglobin. HbD Punjab, also known as HbD-Los Angeles, is the most common variant among the HbD variants. Hemoglobins exhibit different migration patterns in alkaline versus acidic electrophoresis conditions. So a combination of 2 procedures can be used in tandem to identify the hemoglobin variants.
Source: Regenstrief LOINC
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Hemoglobin D/Hemoglobin.total
- Property
- MFr
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- Hgb D MFr DBS
- Display Name
- Hemoglobin D (DBS) [Mass fraction]
- Consumer Name Alpha Get Info
- Hemoglobin D/Total Hgb, Dried blood spot
Basic Attributes
- Class
- HEM/BC
- Type
- Laboratory
- First Released
- Version 2.26
- Last Updated
- Version 2.61
- Order vs. Observation
- Observation
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54081-5 | Hemoglobinopathies newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| de-DE | German (Germany) | Hämoglobin D/Hämoglobin.gesamt: |
| es-ES | Spanish (Spain) | Hemoglobina D/Hemoglobina.total: Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Hemoglobina D / Hemoglobina total: |
| et-EE | Estonian (Estonia) | Hemoglobiin D/hemoglobiin.üld: Synonyms: Juhuslik Kvantitatiivne Veri |
| fr-CA | French (Canada) | Hémoglobine D/Hémoglobine.totale: |
| fr-FR | French (France) | Hémoglobine D/hémoglobine totale: |
| fr-BE | French (Belgium) | Hémoglobine D/Hémoglobine.totale: Synonyms: Hb Hb.totale HbD |
| it-IT | Italian (Italy) | Emoglobina D/Emoglobina.totale: Synonyms: Ematologia (coagulazione) conta differenziale Frazione di massa Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | hemoglobine D/hemoglobine.totaal: |
| pl-PL | Polish (Poland) | Hemoglobina D/hemoglobina całkowita: Synonyms: Hemoglobina D/Hemoglobina całkowita |
| pt-BR | Portuguese (Brazil) | Hemoglobina D/Hemoglobina.total: Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Гемоглобин D/Гемоглобин.общий: Synonyms: Количественный Кровь Кровь сухая капля Массовая доля Точка во времени; |
| tr-TR | Turkish (Turkey) | Hemoglobin D/Hemoglobin.total: |
| zh-CN | Chinese (China) | 血红蛋白 D/血红蛋白.总计: Synonyms: Hgb D MFr Rh; |
Example Units
| Unit | Source |
|---|---|
| % | Example UCUM Units |
54071-6 Hemoglobin E/Hemoglobin.total in DBS
Part Descriptions
LP16427-4 Hemoglobin E
An abnormal hemoglobin that results from the substitution of lysine for glutamic acid at position 26 of the beta chain. It is most frequently observed in southeast Asian populations.
Source: National Library of Medicine, MeSH 2006
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Hemoglobin E/Hemoglobin.total
- Property
- MFr
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- Hgb E MFr DBS
- Display Name
- Hemoglobin E (DBS) [Mass fraction]
- Consumer Name Alpha Get Info
- Hemoglobin E/Total Hgb, Dried blood spot
Basic Attributes
- Class
- HEM/BC
- Type
- Laboratory
- First Released
- Version 2.26
- Last Updated
- Version 2.61
- Order vs. Observation
- Observation
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54081-5 | Hemoglobinopathies newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| de-DE | German (Germany) | Hämoglobin E/Hämoglobin.gesamt: |
| es-ES | Spanish (Spain) | Hemoglobina E/Hemoglobina.total: Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Hemoglobina E / Hemoglobina total: |
| et-EE | Estonian (Estonia) | Hemoglobiin E/hemoglobiin.üld: Synonyms: Juhuslik Kvantitatiivne Veri |
| fr-CA | French (Canada) | Hémoglobine E/Hémoglobine.totale: |
| fr-FR | French (France) | Hémoglobine E/hémoglobine totale: |
| fr-BE | French (Belgium) | Hémoglobine E/Hémoglobine.totale: Synonyms: Hb Hb.totale HbE |
| it-IT | Italian (Italy) | Emoglobina E/Emoglobina.totale: Synonyms: Ematologia (coagulazione) conta differenziale Frazione di massa Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | hemoglobine E/hemoglobine.totaal: |
| pl-PL | Polish (Poland) | Hemoglobina E/hemoglobina całkowita: Synonyms: Hemoglobina E/Hemoglobina całkowita |
| pt-BR | Portuguese (Brazil) | Hemoglobina E/Hemoglobina.total: Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Гемоглобин Е/Гемоглобин.общий: Synonyms: Количественный Кровь Кровь сухая капля Массовая доля Точка во времени; |
| tr-TR | Turkish (Turkey) | Hemoglobin E/Hemoglobin.total: |
| zh-CN | Chinese (China) | 血红蛋白 E/血红蛋白.总计: Synonyms: E 型 Hgb E MFr 全体数量 全血斑点(滤纸); |
Example Units
| Unit | Source |
|---|---|
| % | Example UCUM Units |
54074-0 Hemoglobin F/Hemoglobin.total in DBS
Part Descriptions
LP16428-2 Hemoglobin F
Hemoglobin F is used to screen for fetal-to-maternal hemorrrhage. The presence of fetal red cells in the maternal circulation may be identified by use of the acid elution principle first described by Kleihauer, Brown, and Betke, or by several modifications. Very small volumes of red cells commonly escape from the fetal intravascular compartment across the placental barrier into the maternal intervillous space.
Source: Regenstrief Institute
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Hemoglobin F/Hemoglobin.total
- Property
- MFr
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- Hgb F MFr DBS
- Display Name
- Hemoglobin F (DBS) [Mass fraction]
- Consumer Name Alpha Get Info
- Hemoglobin F/Total Hgb, Dried blood spot
Basic Attributes
- Class
- HEM/BC
- Type
- Laboratory
- First Released
- Version 2.26
- Last Updated
- Version 2.61
- Order vs. Observation
- Observation
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54081-5 | Hemoglobinopathies newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| de-DE | German (Germany) | Hämoglobin F/Hämoglobin.gesamt: |
| es-ES | Spanish (Spain) | Hemoglobina fetal/Hemoglobina.total: Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Hemoglobina F / Hemoglobina total: |
| et-EE | Estonian (Estonia) | Hemoglobiin F/hemoglobiin.üld: Synonyms: Juhuslik Kvantitatiivne Veri |
| fr-CA | French (Canada) | Hémoglobine F/Hémoglobine.totale: |
| fr-FR | French (France) | Hémoglobine F/hémoglobine totale: |
| fr-BE | French (Belgium) | Hémoglobine F/Hémoglobine.totale: Synonyms: Hb Hb.totale HbF |
| it-IT | Italian (Italy) | Emoglobina F/Emoglobina.totale: Synonyms: Ematologia (coagulazione) conta differenziale Frazione di massa Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | hemoglobine F/hemoglobine.totaal: |
| pl-PL | Polish (Poland) | Hemoglobina F/hemoglobina całkowita: Synonyms: Hemoglobina F/Hemoglobina całkowita |
| pt-BR | Portuguese (Brazil) | Hemoglobina F/Hemoglobina.total: Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Гемоглобин F/Гемоглобин.общий: Synonyms: Количественный Кровь Кровь сухая капля Массовая доля Точка во времени; |
| tr-TR | Turkish (Turkey) | Hemoglobin F/Hemoglobin.total: |
| zh-CN | Chinese (China) | 血红蛋白 F/血红蛋白.总计: Synonyms: HbF; |
Example Units
| Unit | Source |
|---|---|
| % | Example UCUM Units |
54068-2 Hemoglobin O - Arab/Hemoglobin.total in DBS
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Hemoglobin O-Arab/Hemoglobin.total
- Property
- MFr
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- Hgb O-Arab MFr DBS
- Display Name
- Hemoglobin O - Arab (DBS) [Mass fraction]
- Consumer Name Alpha Get Info
- Hemoglobin O - Arab/Total Hgb, Dried blood spot
Basic Attributes
- Class
- HEM/BC
- Type
- Laboratory
- First Released
- Version 2.26
- Last Updated
- Version 2.61
- Order vs. Observation
- Observation
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54081-5 | Hemoglobinopathies newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Hemoglobina O - Arab/Hemoglobina.total: Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Hemoglobina O-Arab / Hemoglobina total: |
| fr-CA | French (Canada) | Hémoglobine O-Arab/Hémoglobine.totale: |
| fr-FR | French (France) | Hémoglobine O-Arab/hémoglobine totale: |
| fr-BE | French (Belgium) | Hémoglobine O-Arab/Hémoglobine.totale: Synonyms: Hb Hb O -Arab Hb.totale |
| it-IT | Italian (Italy) | Emoglobina O-Arab/Emoglobina.totale: Synonyms: Ematologia (coagulazione) conta differenziale Emoglobina O - Arab Frazione di massa Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | hemoglobine O-Arab/hemoglobine.totaal: |
| pl-PL | Polish (Poland) | Hemoglobina O-Arab/hemoglobina całkowita: Synonyms: Hemoglobina O-Arab/Hemoglobina całkowita |
| pt-BR | Portuguese (Brazil) | Hemoglobina O-Arab/Hemoglobina.total: Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Гемоглобин О-Arab/Гемоглобин.общий: Synonyms: Количественный Кровь Кровь сухая капля Массовая доля Точка во времени; |
| tr-TR | Turkish (Turkey) | Hemoglobin O-Arab/Hemoglobin.total: |
| zh-CN | Chinese (China) | 血红蛋白 O-Arab/血红蛋白.总计: Synonyms: Hgb O-Arab MFr 全体数量 全血斑点(滤纸); |
Example Units
| Unit | Source |
|---|---|
| % | Example UCUM Units |
56476-5 Hemoglobin S/Hemoglobin.total in DBS
Part Descriptions
LP16455-5 Hemoglobin S
Hemoglobin S (HbS) is a variant form of hemoglobin found in people with sickle cell disease. The Hb S variant occurs primarily among people of African, Hispanic, and Mediterranean descent. Hb S has a variation in the β-chain gene that causes a change in the properties of hemoglobin, resulting in abnormal, rigid, sickling shape of red blood cells. Individuals with two copies of the Hb S variant have classic sickle cell disease (sickle cell anemia, HbSS). Individuals with one HbS variant and one normal hemoglobin, Hb A, have sickle cell trait (HbAS) and usually have no associated symptoms. Hemoglobins exhibit different migration patterns in alkaline versus acidic electrophoresis conditions. So a combination of 2 procedures can be used in tandem to identify the hemoglobin variants.
Source: Regenstrief LOINC, Sickle-cell disease (Wikipedia)
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Hemoglobin S/Hemoglobin.total
- Property
- MFr
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- Hgb S MFr DBS
- Display Name
- Hemoglobin S (DBS) [Mass fraction]
- Consumer Name Alpha Get Info
- Hemoglobin S/Total Hgb, Dried blood spot
Basic Attributes
- Class
- HEM/BC
- Type
- Laboratory
- First Released
- Version 2.29
- Last Updated
- Version 2.61
- Order vs. Observation
- Observation
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54081-5 | Hemoglobinopathies newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| de-DE | German (Germany) | Hämoglobin S/Hämoglobin.gesamt: |
| es-ES | Spanish (Spain) | Hemoglobina S/Hemoglobina.total: Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Hemoglobina S / Hemoglobina total: |
| et-EE | Estonian (Estonia) | Hemoglobiin S/hemoglobiin.üld: Synonyms: Juhuslik Kvantitatiivne Veri |
| fr-CA | French (Canada) | Hémoglobine S/Hémoglobine.totale: |
| fr-FR | French (France) | Hémoglobine S/hémoglobine totale: |
| fr-BE | French (Belgium) | Hémoglobine S/Hémoglobine.totale: Synonyms: Hb Hb.totale HbS |
| it-IT | Italian (Italy) | Emoglobina S/Emoglobina.totale: Synonyms: Ematologia (coagulazione) conta differenziale Frazione di massa Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | hemoglobine S/hemoglobine.totaal: |
| pl-PL | Polish (Poland) | Hemoglobina S/hemoglobina całkowita: Synonyms: Hemoglobina S/Hemoglobina całkowita |
| pt-BR | Portuguese (Brazil) | Hemoglobina S/Hemoglobina.total: Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Гемоглобин S/Гемоглобин.общий: Synonyms: Количественный Кровь Кровь сухая капля Массовая доля Точка во времени; |
| tr-TR | Turkish (Turkey) | Hemoglobin S/Hemoglobin.total: |
| zh-CN | Chinese (China) | 血红蛋白 S/血红蛋白.总计: Synonyms: HbS; |
Example Units
| Unit | Source |
|---|---|
| % | Example UCUM Units |
54082-3 Infectious diseases newborn screening panel
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Infectious diseases newborn screening panel
- Property
- -
- Time
- Pt
- System
- Bld.dot
- Scale
- -
- Method
Additional Names
- Short Name
- NB pnl Infectious diseases DBS
- Display Name
- Infectious diseases NBS panel (DBS)
- Consumer Name Alpha Get Info
- Infectious diseases NBS panel, Dried blood spot
Basic Attributes
- Class
- PANEL.MICRO
- Type
- Laboratory
- First Released
- Version 2.26
- Last Updated
- Version 2.77
- Order vs. Observation
- Order
- Panel Type
- Panel
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Panel de cribado neonatal de enfermedades infecciosas: |
| es-MX | Spanish (Mexico) | Panel de cribado neonatal de enfermedades infecciosas: |
| fr-FR | French (France) | Maladies infectieuses dépistage néonatal panel: |
| fr-BE | French (Belgium) | Panel screening nouveau-né maladies infectieuses: |
| it-IT | Italian (Italy) | Malattie infettive, panel screening neonatale: Synonyms: Microbiologia Panel screening neonatale Panel screening neonatale per malattie infettive Punto nel tempo (episodio) Sangue Set di prescrizione microbiologia Spot sangue secco |
| nl-NL | Dutch (Netherlands) | besmettelijke ziekten pasgeborene screening panel: |
| pt-BR | Portuguese (Brazil) | Recém nascido triagem doenças infecciosas painel: Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Инфекционные болезни новорождённый скрининг панель: Synonyms: Кровь Кровь сухая капля Точка во времени; |
| zh-CN | Chinese (China) | 传染病新生儿筛查组套: Synonyms: Asympt SCN 传染性疾病类; |
57702-3 Infectious diseases newborn screen interpretation
Observation Required in Panel
Required
Fully-Specified Name
- Component
- Infectious diseases
- Property
- Imp
- Time
- Pt
- System
- Bld.dot
- Scale
- Nom
- Method
Additional Names
- Short Name
- Infectious diseases DBS-Imp
- Display Name
- Infectious diseases (DBS) [Interp]
- Consumer Name Alpha Get Info
- Infectious diseases, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.29
- Last Updated
- Version 2.56
- Change Reason
- Changed answer list from "Normative" to "Preferred" to fit the current LOINC model.
- Order vs. Observation
- Observation
Preferred Answer List LL833-5
| Answer | Code | Score | Answer ID |
|---|---|---|---|
| Normal Copyright http://snomed.info/sct ID:17621005 Normal (qualifier value) | LA6626-1 | ||
| Borderline | LA4259-3 | ||
| Suspect HIV | LA12446-3 | ||
| Suspect TOXO | LA12447-1 |
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54082-3 | Infectious diseases newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Enfermedades infecciosas: |
| es-MX | Spanish (Mexico) | Enfermedades infecciosas: |
| fr-FR | French (France) | Maladies infectieuses: |
| fr-BE | French (Belgium) | Maladies infectieuses: |
| it-IT | Italian (Italy) | Malattie infettive: Synonyms: Chimica Impressione/interpretazione di studio Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | besmettelijke ziekten: |
| pt-BR | Portuguese (Brazil) | Doenças infecciosas: Synonyms: Interpretation; |
| ru-RU | Russian (Russian Federation) | Инфекционные болезни: Synonyms: Впечатление/интерпретация исследования Кровь Кровь сухая капля Номинальный; |
| tr-TR | Turkish (Turkey) | Enfeksiyöz hastalıklar: |
| zh-CN | Chinese (China) | 传染病类: Synonyms: 传染性疾病类; |
Third Party Copyright
This material includes SNOMED Clinical Terms® (SNOMED CT®) which is used by permission of the International Health Terminology Standards Development Organisation (IHTSDO) under license. All rights reserved. SNOMED CT® was originally created by The College of American Pathologists. "SNOMED" and "SNOMED CT" are registered trademarks of the IHTSDO.
This material includes content from the US Edition to SNOMED CT, which is developed and maintained by the U.S. National Library of Medicine and is available to authorized UMLS Metathesaurus Licensees from the UTS Downloads site at https://uts.nlm.nih.gov.
Use of SNOMED CT content is subject to the terms and conditions set forth in the SNOMED CT Affiliate License Agreement. It is the responsibility of those implementing this product to ensure they are appropriately licensed and for more information on the license, including how to register as an Affiliate Licensee, please refer to http://www.snomed.org/snomed-ct/get-snomed-ct or info@snomed.org<mailto:info@snomed.org>. This may incur a fee in SNOMED International non-Member countries.
57701-5 Infectious diseases newborn screening comment-discussion
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Infectious diseases newborn screening comment-discussion
- Property
- Txt
- Time
- Pt
- System
- Bld.dot
- Scale
- Nar
- Method
Additional Names
- Short Name
- Infectious diseases NBS comment
- Display Name
- Infectious diseases newborn screening comment-discussion Nar (DBS)
- Consumer Name Alpha Get Info
- Infectious diseases newborn screening comment-discussion, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.29
- Last Updated
- Version 2.42
- Order vs. Observation
- Observation
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54082-3 | Infectious diseases newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Enfermedades infecciosas screnning de recién nacidos comentario-discusión: |
| es-MX | Spanish (Mexico) | Comentario / discusión sobre enfermedades infecciosas de detección de recién nacidos: |
| fr-FR | French (France) | Maladies infectieuses dépistage néonatal (commentaire-discussion): |
| fr-BE | French (Belgium) | Maladies infectieuses Commentaires.screening néonatal.discussion: |
| it-IT | Italian (Italy) | Malattie infettive, screening neonatale, commenti-discussione: Synonyms: Chimica Commento/discussione di screening neonatale per malattie infettive Punto nel tempo (episodio) Sangue Spot sangue secco Testo |
| nl-NL | Dutch (Netherlands) | besmettelijke ziekten screening van pasgeborene commentaar-discussie: |
| pt-BR | Portuguese (Brazil) | Doenças infecciosas na triagem neonatal comentários-discussão: Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Инфекционные болезни новорожденный скрининг комментарий-дискуссия: Synonyms: Кровь Кровь сухая капля Описательный Текст Точка во времени; |
| tr-TR | Turkish (Turkey) | Enfeksiyöz hastalıklar yenidoğan tarama öneri-tartışma: |
| zh-CN | Chinese (China) | 传染病类 新生儿筛查注释-讨论: Synonyms: Asympt SCN 传染性疾病类; |
54086-4 HIV 1+2 IgG Ab [Presence] in DBS
Part Descriptions
LP16715-2 HIV 1+2
Two types of human immunodeficiency viruses (HIV) have been characterized: HIV-1 and HIV-2. HIV-1 was initially discovered in the early 1980s and thought to be the sole causative agent of HIV infections and ultimately AIDS. In 1986, HIV-2 was isolated and also found to cause AIDs. HIV-1 is more virulent and the predominant cause of the HIV infections worldwide. HIV-2 is poorly transmitted and is primarily concentrated in West Africa.
Presently (2012), HIV-1 strains are divided into four groups, including group M (major) with subtypes A through K, group O (outlier), group N (non-M or O), and group P. HIV-2 is divided into subtypes A through E. Occasionally, two viruses of different subtypes can "cross react" and blend their genetic material to create a new hybrid HIV virus. However, many of these new strains do not survive for long. Studies have also shown that the core proteins of HIV-1 and HIV-2 display frequent cross-reactivity whereas the envelope proteins are more type-specific.
Source: Regenstrief LOINC
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- HIV 1+2 Ab.IgG
- Property
- PrThr
- Time
- Pt
- System
- Bld.dot
- Scale
- Ord
- Method
Additional Names
- Short Name
- HIV1+2 IgG DBS Ql
- Display Name
- HIV 1+2 IgG Ql (DBS)
- Consumer Name Alpha Get Info
- HIV 1+2 IgG antibody, Dried blood spot
Basic Attributes
- Class
- MICRO
- Type
- Laboratory
- First Released
- Version 2.26
- Last Updated
- Version 2.61
- Change Reason
- The PrThr property is used for LOINC terms whose results are reported using an ordered categorical scale, regardless of whether or not an internal threshold was used to make that determination. This change was approved by the Laboratory LOINC Committee in June 2016.
- Order vs. Observation
- Both
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 75622-1 | HIV 1 and 2 tests - Meaningful Use set |
| 54082-3 | Infectious diseases newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | VIH 1-2 IgG: |
| es-MX | Spanish (Mexico) | VIH 1 + 2 Ab.IgG: |
| et-EE | Estonian (Estonia) | HIV 1+2 antikehad.IgG: Synonyms: Immuunglobuliin G Inimese immuunpuudulikkuse viirus Inimese immuunpuudulikkuse viiruse 1. ja 2 tüüp Järgarvuline Juhuslik Veri |
| fr-CA | French (Canada) | VIH 1+2, IgG: |
| fr-FR | French (France) | VIH-1+2 Ac IgG: |
| fr-BE | French (Belgium) | VIH 1+2 Anticorps. IgG: Synonyms: Anticorps HIV HIV 1 HIV 1& |
| it-IT | Italian (Italy) | HIV 1+2 Ab.IgG: Synonyms: anticorpi IgG anticorpo Microbiologia Presenza o Soglia Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | HIV 1+2 As.IgG: Synonyms: antistof; |
| pl-PL | Polish (Poland) | HIV 1+2 Ab.IgG: Synonyms: IgG Ludzki wirus niedoboru odporności typu 1 Ludzki wirus niedoboru odporności typu 1 i 2 Ludzki wirus niedoboru odporności typu 1+2 Przeciwciała do HIV 1 i 2 Przeciwciała do HIV 1+2 Przeciwciała IgG do HIV 1 i 2 Przeciwciała IgG do HIV 1+2 |
| pt-BR | Portuguese (Brazil) | HIV 1+2 Ac.IgG: Synonyms: Immune globulin G; |
| ru-RU | Russian (Russian Federation) | HIV 1+2 Ат.IgG: Synonyms: Антитело ВИЧ ВИЧ 1 ВИЧ 1 и 2 ВИЧ 1+2 Кровь Кровь сухая капля Порядковый Точка во времени; |
| tr-TR | Turkish (Turkey) | HIV 1+2 Ab.IgG: Synonyms: Ak Ak.IgG Mevcut |
| zh-CN | Chinese (China) | HIV 1 型+2 型 抗体.IgG: Synonyms: Ⅰ Ⅱ Ab.IgG; |
54087-2 Toxoplasma gondii IgG Ab [Presence] in DBS
Part Descriptions
LP14252-8 Toxoplasma gondii
Toxoplasma gondii is an intestinal coccidium that multiplies within cats as definitive hosts as well as within many other mammals and birds as intermediate hosts. T. gondii reproduces sexually only in cats. It infects the intestinal epithelium and produces oocysts which are shed in the feces. Humans acquire infections most often by consumption of undercooked meat containing tissue cysts or food contaminated by cat feces. Less than 0.1 percent of human cases are acquired congenitally. Toxoplasmosis is minor and self-limiting in immunocompetent individuals who may be asymptomatic or present with fever, lymphadenopathy, muscle aches and headache. Toxoplasma may manifest as encephalitis in immunosuppressed individuals including patients with acquired immune deficiency syndrome (AIDS) and may lead to coma or death. T. gondii often infects the brain and retina in congenitally infected children. Mild symptoms include slightly diminished vision while severely diseased children exhibit a pattern of retinochoroiditis, hydrocephalus, convulsions and intracerebral calcifications. Ocular disease may also occur. Toxoplasma is diagnosed through serology and upon histologic examination of tissues. Prevention includes thorough cooking of meat and proper management of cats. Sulfadiazine and pyrimethamine can be used to treat acute cases. [NCBI Books:NBK7627]
Source: Regenstrief LOINC
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Toxoplasma gondii Ab.IgG
- Property
- PrThr
- Time
- Pt
- System
- Bld.dot
- Scale
- Ord
- Method
Additional Names
- Short Name
- T gondii IgG DBS Ql
- Display Name
- T. gondii IgG Ql (DBS)
- Consumer Name Alpha Get Info
- Toxoplasma gondii IgG antibody, Dried blood spot
Basic Attributes
- Class
- MICRO
- Type
- Laboratory
- First Released
- Version 2.26
- Last Updated
- Version 2.61
- Change Reason
- The PrThr property is used for LOINC terms whose results are reported using an ordered categorical scale, regardless of whether or not an internal threshold was used to make that determination. This change was approved by the Laboratory LOINC Committee in June 2016.
- Order vs. Observation
- Both
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54082-3 | Infectious diseases newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| de-DE | German (Germany) | Toxoplasma gondii Ak.IgG: |
| es-MX | Spanish (Mexico) | Toxoplasma gondii Ab.IgG: |
| es-ES | Spanish (Spain) | Toxoplasma gondii IgG: |
| et-EE | Estonian (Estonia) | Toxoplasma gondii antikehad.IgG: Synonyms: Immuunglobuliin G Järgarvuline Juhuslik Veri |
| fr-CA | French (Canada) | Toxoplasma gondii, IgG: |
| fr-FR | French (France) | Toxoplasma gondii Ac IgG: |
| fr-BE | French (Belgium) | Toxoplasma gondii Anticorps. IgG: Synonyms: Anticorps |
| it-IT | Italian (Italy) | Toxoplasma gondii Ab.IgG: Synonyms: anticorpi IgG anticorpo Microbiologia Presenza o Soglia Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | Toxoplasma gondii As.IgG: Synonyms: antistof; |
| pt-BR | Portuguese (Brazil) | Toxoplasma gondii Ac.IgG: Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Toxoplasma gondii Ат.IgG: Synonyms: Антитело Кровь Кровь сухая капля Порядковый Точка во времени; |
| tr-TR | Turkish (Turkey) | Toxoplasma gondii Ab.IgG: Synonyms: Ak Ak.IgG Mevcut |
| zh-CN | Chinese (China) | 刚地弓形虫 抗体.IgG: Synonyms: Ab.IgG; |
54088-0 Toxoplasma gondii IgM Ab [Presence] in DBS
Part Descriptions
LP14252-8 Toxoplasma gondii
Toxoplasma gondii is an intestinal coccidium that multiplies within cats as definitive hosts as well as within many other mammals and birds as intermediate hosts. T. gondii reproduces sexually only in cats. It infects the intestinal epithelium and produces oocysts which are shed in the feces. Humans acquire infections most often by consumption of undercooked meat containing tissue cysts or food contaminated by cat feces. Less than 0.1 percent of human cases are acquired congenitally. Toxoplasmosis is minor and self-limiting in immunocompetent individuals who may be asymptomatic or present with fever, lymphadenopathy, muscle aches and headache. Toxoplasma may manifest as encephalitis in immunosuppressed individuals including patients with acquired immune deficiency syndrome (AIDS) and may lead to coma or death. T. gondii often infects the brain and retina in congenitally infected children. Mild symptoms include slightly diminished vision while severely diseased children exhibit a pattern of retinochoroiditis, hydrocephalus, convulsions and intracerebral calcifications. Ocular disease may also occur. Toxoplasma is diagnosed through serology and upon histologic examination of tissues. Prevention includes thorough cooking of meat and proper management of cats. Sulfadiazine and pyrimethamine can be used to treat acute cases. [NCBI Books:NBK7627]
Source: Regenstrief LOINC
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Toxoplasma gondii Ab.IgM
- Property
- PrThr
- Time
- Pt
- System
- Bld.dot
- Scale
- Ord
- Method
Additional Names
- Short Name
- T gondii IgM DBS Ql
- Display Name
- T. gondii IgM Ql (DBS)
- Consumer Name Alpha Get Info
- Toxoplasma gondii IgM antibody, Dried blood spot
Basic Attributes
- Class
- MICRO
- Type
- Laboratory
- First Released
- Version 2.26
- Last Updated
- Version 2.61
- Change Reason
- The PrThr property is used for LOINC terms whose results are reported using an ordered categorical scale, regardless of whether or not an internal threshold was used to make that determination. This change was approved by the Laboratory LOINC Committee in June 2016.
- Order vs. Observation
- Both
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54082-3 | Infectious diseases newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| de-DE | German (Germany) | Toxoplasma gondii Ak.IgM: |
| es-ES | Spanish (Spain) | Toxoplasma gondii IgM: |
| es-MX | Spanish (Mexico) | Toxoplasma gondii Ab.IgM: |
| et-EE | Estonian (Estonia) | Toxoplasma gondii antikehad.IgM: Synonyms: Immuunglobuliin M Järgarvuline Juhuslik Veri |
| fr-CA | French (Canada) | Toxoplasma gondii, IgM: |
| fr-FR | French (France) | Toxoplasma gondii Ac IgM: |
| fr-BE | French (Belgium) | Toxoplasma gondii Anticorps. IgM: Synonyms: Anticorps |
| it-IT | Italian (Italy) | Toxoplasma gondii Ab.IgM: Synonyms: Anticorpi IgM anticorpo Microbiologia Presenza o Soglia Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | Toxoplasma gondii As.IgM: Synonyms: antistof; |
| pt-BR | Portuguese (Brazil) | Toxoplasma gondii Ac.IgM: Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Toxoplasma gondii Ат.IgM: Synonyms: Антитело Кровь Кровь сухая капля Порядковый Точка во времени; |
| tr-TR | Turkish (Turkey) | Toxoplasma gondii Ab.IgM: Synonyms: Ak Ak.IgM Mevcut |
| zh-CN | Chinese (China) | 刚地弓形虫 抗体.IgM: Synonyms: Ab.IgM; |
57087-9 Biotinidase newborn screening panel
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Biotinidase newborn screening panel
- Property
- -
- Time
- Pt
- System
- Bld.dot
- Scale
- -
- Method
Additional Names
- Short Name
- BIO NB scn pnl DBS
- Display Name
- Biotinidase NBS panel (DBS)
- Consumer Name Alpha Get Info
- Biotinidase NBS Panel, Dried blood spot
Basic Attributes
- Class
- PANEL.CHEM
- Type
- Laboratory
- First Released
- Version 2.29
- Last Updated
- Version 2.77
- Order vs. Observation
- Order
- Panel Type
- Panel
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Panel de cribado neonatal de biotinidasa: |
| es-MX | Spanish (Mexico) | Panel de detección de biotinidasa en recién nacidos: |
| fr-FR | French (France) | Biotinidase dépistage néonatal panel: |
| it-IT | Italian (Italy) | Biotinidasi, panel di screening neonatale: Synonyms: Chimica Panel screening neonatale Panel screening neonatale per biotinidasi Punto nel tempo (episodio) Sangue Set di prescrizione chimica Spot sangue secco |
| nl-NL | Dutch (Netherlands) | biotinidase pasgeborene screening panel: |
| pt-BR | Portuguese (Brazil) | Biotinidase painel de triagem neonatal: Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Биотинидаза новорождённый скрининг панель: Synonyms: Кровь Кровь сухая капля Точка во времени; |
| zh-CN | Chinese (China) | 生物素酶新生儿筛查组套: Synonyms: Asympt SCN 全血斑点(滤纸); |
46761-3 Biotinidase deficiency newborn screen interpretation
Part Descriptions
LP56771-6 Biotinidase deficiency
The late onset form of MULTIPLE CARBOXYLASE DEFICIENCY (deficiency of the activities of biotin-dependent enzymes propionyl-CoA carboxylase, methylcrotonyl-CoA carboxylase, and PYRUVATE CARBOXYLASE) due to a defect or deficiency in biotinidase which is essential for recycling BIOTIN.
Source: National Library of Medicine, MeSH 2006
Observation Required in Panel
Required
Fully-Specified Name
- Component
- Biotinidase deficiency
- Property
- Imp
- Time
- Pt
- System
- Bld.dot
- Scale
- Nom
- Method
Additional Names
- Short Name
- BIOT DBS-Imp
- Display Name
- Biotinidase deficiency (DBS) [Interp]
- Consumer Name Alpha Get Info
- Biotinidase deficiency, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.19
- Last Updated
- Version 2.73
- Change Reason
- Changed answer list from "Normative" to "Preferred" to fit the current LOINC model.
- Order vs. Observation
- Observation
- Common Test Rank Get Info
- 5014
Preferred Answer List LL840-0
| Answer | Code | Score | Answer ID |
|---|---|---|---|
| In range | LA18592-8 | ||
| Borderline | LA4259-3 | ||
| Indeterminate Copyright http://snomed.info/sct ID:82334004 Indeterminate (qualifier value) | LA11884-6 | ||
| Out of range | LA18593-6 | ||
| Out of range requiring further dried blood spot testing for at least one condition | LA12430-7 | ||
| Out of range requiring immediate referral | LA25817-0 | ||
| Out of range requiring immediate second-tier testing for at least one condition | LA12431-5 | ||
| Out of range requiring deferred follow-up for at least one condition | LA18594-4 | ||
| One or more tests pending | LA16204-2 | ||
| Specimen unsatisfactory for at least one condition | LA16205-9 |
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 57087-9 | Biotinidase newborn screening panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Deficiencia de Biotinidasa: |
| es-MX | Spanish (Mexico) | Deficiencia de biotinidasa: |
| fr-CA | French (Canada) | Déficit en biotinidase: |
| fr-FR | French (France) | Biotinidase carence: |
| fr-BE | French (Belgium) | Déficit en biotinidase: |
| it-IT | Italian (Italy) | Biotinidasi, deficit: Synonyms: Chimica Deficit di biotinidasi Impressione/interpretazione di studio Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | biotinidasedeficiëntie: Synonyms: biotinidase deficientie |
| pt-BR | Portuguese (Brazil) | Deficiência de Biotinidase: Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Биотинидаза недостаточность: Synonyms: Впечатление/интерпретация исследования Кровь Кровь сухая капля Недостаточность биотинидазы Номинальный; |
| tr-TR | Turkish (Turkey) | Biyotinidaz yetmezliği: |
| zh-CN | Chinese (China) | 生物素化物酶缺陷: Synonyms: BIOT 全血斑点(滤纸); |
Third Party Copyright
This material includes SNOMED Clinical Terms® (SNOMED CT®) which is used by permission of the International Health Terminology Standards Development Organisation (IHTSDO) under license. All rights reserved. SNOMED CT® was originally created by The College of American Pathologists. "SNOMED" and "SNOMED CT" are registered trademarks of the IHTSDO.
This material includes content from the US Edition to SNOMED CT, which is developed and maintained by the U.S. National Library of Medicine and is available to authorized UMLS Metathesaurus Licensees from the UTS Downloads site at https://uts.nlm.nih.gov.
Use of SNOMED CT content is subject to the terms and conditions set forth in the SNOMED CT Affiliate License Agreement. It is the responsibility of those implementing this product to ensure they are appropriately licensed and for more information on the license, including how to register as an Affiliate Licensee, please refer to http://www.snomed.org/snomed-ct/get-snomed-ct or info@snomed.org<mailto:info@snomed.org>. This may incur a fee in SNOMED International non-Member countries.
57699-1 Biotinidase deficiency newborn screening comment-discussion
Part Descriptions
LP56771-6 Biotinidase deficiency
The late onset form of MULTIPLE CARBOXYLASE DEFICIENCY (deficiency of the activities of biotin-dependent enzymes propionyl-CoA carboxylase, methylcrotonyl-CoA carboxylase, and PYRUVATE CARBOXYLASE) due to a defect or deficiency in biotinidase which is essential for recycling BIOTIN.
Source: National Library of Medicine, MeSH 2006
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Biotinidase deficiency newborn screening comment-discussion
- Property
- Txt
- Time
- Pt
- System
- Bld.dot
- Scale
- Nar
- Method
Additional Names
- Short Name
- BIOT NBS comment
- Display Name
- Biotinidase deficiency newborn screening comment-discussion Nar (DBS)
- Consumer Name Alpha Get Info
- Biotinidase deficiency newborn screening comment-discussion, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.29
- Last Updated
- Version 2.73
- Order vs. Observation
- Observation
- Common Test Rank Get Info
- 19546
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 57087-9 | Biotinidase newborn screening panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Deficiencia de Biotinidasa screnning de recién nacidos comentario-discusión: |
| es-MX | Spanish (Mexico) | Comentario-discusión sobre el cribado neonatal por deficiencia de biotinidasa: |
| fr-FR | French (France) | Biotinidase carence dépistage néonatal (commentaire/discussion): |
| fr-BE | French (Belgium) | Déficit en biotinidase Commentaires.screening néonatal.discussion: |
| it-IT | Italian (Italy) | Biotinidasi, deficit, screening neonatale, commenti-discussione: Synonyms: Chimica Commento/discussione di screening neonatale per deficit di biotinidasi Deficit di biotinidasi Punto nel tempo (episodio) Sangue Spot sangue secco Testo |
| nl-NL | Dutch (Netherlands) | biotinidasedeficiëntie screening van pasgeborene commentaar-discussie: Synonyms: biotinidase deficientie |
| pt-BR | Portuguese (Brazil) | Deficiência de biotinidase na triagem neonatal comentários-discussão: Synonyms: Remarks; |
| ru-RU | Russian (Russian Federation) | Биотинидаза недостаточность новорожденный скрининг комментарий-дискуссия: Synonyms: Кровь Кровь сухая капля Недостаточность биотинидазы Описательный Текст Точка во времени; |
| tr-TR | Turkish (Turkey) | Biyotinidaz yetmezliği yenidoğan tarama öneri-tartışma: |
| zh-CN | Chinese (China) | 生物素化物酶缺陷 新生儿筛查注释-讨论: Synonyms: Asympt BIOT SCN 全血斑点(滤纸); |
38478-4 Biotinidase [Presence] in DBS
Part Descriptions
LP15452-3 Biotinidase
Biotinidase is a human enzyme coded for by the BTD gene. It facilitates the use and recycling of the B vitamin biotin, sometimes called vitamin H. It removes biotin from food because biotin is needed in its free form. Biotinidase also recycles biotin from certain enzymes, known as carboxylases. These enzymes are important in the processing of fats, carbohydrates and proteins. Biotin is attached to the carboxylases through an amino acid called lysine, forming a complex called biocytin. Biotinidase removes biotin from biocytin and makes it available to be reused by other enzymes.
Mutations in the BTD gene cause biotinidase deficiency. Approximately 100 mutations in the BTD gene that lead to biotinidase deficiency have been discovered. These mutations either prevent the enzyme from being made or cause the enzyme that is produced to be nonfunctional.
Copyright Text is available under the Creative Commons Attribution/Share-Alike License. See http://creativecommons.org/licenses/by-sa/3.0/ for details.
Source: Wikipedia, Biotinidase
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Biotinidase
- Property
- PrThr
- Time
- Pt
- System
- Bld.dot
- Scale
- Ord
- Method
Additional Names
- Short Name
- Biotinidase DBS Ql
- Display Name
- Biotinidase Ql (DBS)
- Consumer Name Alpha Get Info
- Biotinidase, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.14
- Last Updated
- Version 2.73
- Change Reason
- The PrThr property is used for LOINC terms whose results are reported using an ordered categorical scale, regardless of whether or not an internal threshold was used to make that determination. This change was approved by the Laboratory LOINC Committee in June 2016.
- Order vs. Observation
- Both
- Common Test Rank Get Info
- 1407
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 57087-9 | Biotinidase newborn screening panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| de-DE | German (Germany) | Biotinidase: |
| es-ES | Spanish (Spain) | Biotinidasa: |
| es-MX | Spanish (Mexico) | Biotinidasa: |
| es-AR | Spanish (Argentina) | biotinidasa: |
| et-EE | Estonian (Estonia) | Biotinidaas: Synonyms: Järgarvuline Juhuslik Veri |
| fr-CA | French (Canada) | Biotinidase: |
| fr-FR | French (France) | Biotinidase: |
| fr-BE | French (Belgium) | Biotinidase: |
| it-IT | Italian (Italy) | Biotinidasi: Synonyms: Chimica Presenza o Soglia Punto nel tempo (episodio) Sangue Spot sangue secco |
| ko-KR | Korean (Korea, Republic Of) | 바이오티니다아제: |
| nl-NL | Dutch (Netherlands) | biotinidase: |
| pt-BR | Portuguese (Brazil) | Biotinidase: Synonyms: Arbitrary concentration; |
| ru-RU | Russian (Russian Federation) | Биотинидаза: Synonyms: Кровь Кровь сухая капля Порядковый Точка во времени; |
| tr-TR | Turkish (Turkey) | Biyotinidaz: Synonyms: Mevcut |
| zh-CN | Chinese (China) | 生物素化物酶: Synonyms: 依次型; |
75217-0 Biotinidase [Enzymatic activity/volume] in DBS
Term Description
Biotinidase is a marker for biotinidase deficiency, which is one of the core conditions on the HHS Secretary's Recommended Uniform Screening Panel for newborn screening. The submitter's lab uses Astoria-Pacific's SPOTCHECK analyzer to measure biotinidase, which is reported in ERUs (enzyme response units). ERU units are defined as follows: "One ERU is equal to one micromole of PABA (product) produced from Biotin-PAB (substrate) per 100 mL per 90 minutes in the extract from a dried blood spot."
Source: Regenstrief LOINC
Part Descriptions
LP15452-3 Biotinidase
Biotinidase is a human enzyme coded for by the BTD gene. It facilitates the use and recycling of the B vitamin biotin, sometimes called vitamin H. It removes biotin from food because biotin is needed in its free form. Biotinidase also recycles biotin from certain enzymes, known as carboxylases. These enzymes are important in the processing of fats, carbohydrates and proteins. Biotin is attached to the carboxylases through an amino acid called lysine, forming a complex called biocytin. Biotinidase removes biotin from biocytin and makes it available to be reused by other enzymes.
Mutations in the BTD gene cause biotinidase deficiency. Approximately 100 mutations in the BTD gene that lead to biotinidase deficiency have been discovered. These mutations either prevent the enzyme from being made or cause the enzyme that is produced to be nonfunctional.
Copyright Text is available under the Creative Commons Attribution/Share-Alike License. See http://creativecommons.org/licenses/by-sa/3.0/ for details.
Source: Wikipedia, Biotinidase
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Biotinidase
- Property
- CCnc
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- Biotinidase DBS-cCnc
- Display Name
- Biotinidase (DBS) [Catalytic activity/Vol]
- Consumer Name Alpha Get Info
- Biotinidase, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.48
- Last Updated
- Version 2.73
- Order vs. Observation
- Both
- Common Test Rank Get Info
- 16427
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 57087-9 | Biotinidase newborn screening panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Biotinidasa: Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Biotinidasa: |
| et-EE | Estonian (Estonia) | Biotinidaas: Synonyms: Juhuslik Kvantitatiivne Veri |
| fr-CA | French (Canada) | Biotinidase: |
| fr-FR | French (France) | Biotinidase: |
| fr-BE | French (Belgium) | Biotinidase: |
| it-IT | Italian (Italy) | Biotinidasi: Synonyms: Chimica Concentrazione Catalitica Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | biotinidase: |
| pt-BR | Portuguese (Brazil) | Biotinidase: |
| ru-RU | Russian (Russian Federation) | Биотинидаза: Synonyms: Каталитическая концентрация Количественный Кровь Кровь сухая капля Точка во времени; |
| tr-TR | Turkish (Turkey) | Biyotinidaz: |
| zh-CN | Chinese (China) | 生物素化物酶: Synonyms: 催化浓度(单位体积); |
Example Units
| Unit | Source |
|---|---|
| nmol/mL/min | Example UCUM Units |
58091-0 Glucose-6-Phosphate dehydrogenase newborn screen panel
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Glucose-6-Phosphate dehydrogenase newborn screen panel
- Property
- -
- Time
- Pt
- System
- Bld.dot
- Scale
- -
- Method
Additional Names
- Short Name
- G6PD NBS pnl DBS
- Display Name
- G6PD NBS panel (DBS)
- Consumer Name Alpha Get Info
- G6PD NBS Panel, Dried blood spot
Basic Attributes
- Class
- PANEL.CHEM
- Type
- Laboratory
- First Released
- Version 2.29
- Last Updated
- Version 2.77
- Order vs. Observation
- Order
- Panel Type
- Panel
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Panel de cribado de la glucosa-6-fosfato deshidrogenasa en el recién nacido: |
| es-MX | Spanish (Mexico) | Panel de pantalla para recién nacidos de glucosa-6-fosfato deshidrogenasa: |
| et-EE | Estonian (Estonia) | Glükoos-6-fosfaatdehüdrogenaasi sõeluuring vastsündinul: Synonyms: Juhuslik Veri |
| fr-FR | French (France) | Glucose-6-phosphate déhydrogénase dépistage néonatal panel: |
| fr-BE | French (Belgium) | Panel screening néonatal G6PDH: Synonyms: G6P-déshydrogénase, G6PD,G6PDH Panel screening néonatal Glucose-6Phosphate-DésHydrogénase |
| it-IT | Italian (Italy) | Glucosio-6-Fosfato deidrogenasi, panel screening neonatale: Synonyms: Chimica G6PD Panel screening neonatale per glucosio-6-Fosfato d Punto nel tempo (episodio) Sangue Set di prescrizione chimica Spot sangue secco |
| nl-NL | Dutch (Netherlands) | glucose-6-fosfatedehydrogenase pasgeborene screening panel: |
| pl-PL | Polish (Poland) | Panel przesiewowy dla noworodków dehydrogenazy glukozo-6-fosforanowej: |
| pt-BR | Portuguese (Brazil) | Glicose-6-Fosfato dehidrogenase triagem neonatal painel: Synonyms: Phos; |
| ru-RU | Russian (Russian Federation) | Глюкозо-6-Фосфат дегидрогеназа новорождённый скрин панель: Synonyms: Кровь Кровь сухая капля Точка во времени; |
| zh-CN | Chinese (China) | 葡萄糖-6-磷酸脱氢酶新生儿筛查组套: Synonyms: G6PD; |
58089-4 Glucose-6-Phosphate dehydrogenase newborn screen interpretation
Part Descriptions
LP15601-5 Glucose-6-Phosphate dehydrogenase
Glucose 6-Phosphate Dehydrogenase (G6PD) deficiency causes hemolytic anemia following the use of some drugs, bacterial or viral infections, or metabolic disorder such as acidosis. Three G6PD variants occur frequently and have clinical implications in different ethnic groups. Heinz bodies may appear in peripheral red blood cells when G6PD-mediated hemolysis occurs. Younger red cells and reticulocytes contain more G6PD and may cause normal values if blood is collected following a hemolytic crisis.
Source: Regenstrief Institute
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Glucose-6-Phosphate dehydrogenase
- Property
- Imp
- Time
- Pt
- System
- Bld.dot
- Scale
- Nar
- Method
Additional Names
- Short Name
- G6PD DBS-Imp
- Display Name
- G6PD Nar (DBS) [Interp]
- Consumer Name Alpha Get Info
- Interpretation of Glucose-6-Phosphate dehydrogenase test result, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.29
- Last Updated
- Version 2.56
- Change Reason
- Changed answer list from "Normative" to "Preferred" to fit the current LOINC model.
- Order vs. Observation
- Observation
Preferred Answer List LL840-0
| Answer | Code | Score | Answer ID |
|---|---|---|---|
| In range | LA18592-8 | ||
| Borderline | LA4259-3 | ||
| Indeterminate Copyright http://snomed.info/sct ID:82334004 Indeterminate (qualifier value) | LA11884-6 | ||
| Out of range | LA18593-6 | ||
| Out of range requiring further dried blood spot testing for at least one condition | LA12430-7 | ||
| Out of range requiring immediate referral | LA25817-0 | ||
| Out of range requiring immediate second-tier testing for at least one condition | LA12431-5 | ||
| Out of range requiring deferred follow-up for at least one condition | LA18594-4 | ||
| One or more tests pending | LA16204-2 | ||
| Specimen unsatisfactory for at least one condition | LA16205-9 |
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 58091-0 | Glucose-6-Phosphate dehydrogenase newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Glucosa 6-Fosfatodeshidrogenasa: |
| es-MX | Spanish (Mexico) | Glucosa-6-fosfato deshidrogenasa: |
| fr-CA | French (Canada) | Glucose-6-phosphate déshydrogénase: |
| fr-FR | French (France) | Glucose-6-phosphate déhydrogénase: |
| fr-BE | French (Belgium) | Glucose-6-phosphate déshydrogénase: Synonyms: G6P-déshydrogénase, G6PD,G6PDH |
| it-IT | Italian (Italy) | Glucosio-6-Fosfato deidrogenasi: Synonyms: Chimica G6PD Impressione/interpretazione di studio Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | glucose-6-fosfatedehydrogenase: |
| pt-BR | Portuguese (Brazil) | Glicose-6-Fosfato dehidrogenase: Synonyms: Phos; |
| ru-RU | Russian (Russian Federation) | Глюкозо-6-фосфат дегидрогеназа: Synonyms: Впечатление/интерпретация исследования Кровь Кровь сухая капля Описательный Точка во времени; |
| tr-TR | Turkish (Turkey) | Glukoz-6-Fosfat dehidrojenaz: |
| zh-CN | Chinese (China) | 葡萄糖-6-磷酸脱氢酶: Synonyms: G6PD; |
Third Party Copyright
This material includes SNOMED Clinical Terms® (SNOMED CT®) which is used by permission of the International Health Terminology Standards Development Organisation (IHTSDO) under license. All rights reserved. SNOMED CT® was originally created by The College of American Pathologists. "SNOMED" and "SNOMED CT" are registered trademarks of the IHTSDO.
This material includes content from the US Edition to SNOMED CT, which is developed and maintained by the U.S. National Library of Medicine and is available to authorized UMLS Metathesaurus Licensees from the UTS Downloads site at https://uts.nlm.nih.gov.
Use of SNOMED CT content is subject to the terms and conditions set forth in the SNOMED CT Affiliate License Agreement. It is the responsibility of those implementing this product to ensure they are appropriately licensed and for more information on the license, including how to register as an Affiliate Licensee, please refer to http://www.snomed.org/snomed-ct/get-snomed-ct or info@snomed.org<mailto:info@snomed.org>. This may incur a fee in SNOMED International non-Member countries.
58090-2 Glucose-6-Phosphate dehydrogenase newborn screening comment-discussion
Part Descriptions
LP15601-5 Glucose-6-Phosphate dehydrogenase
Glucose 6-Phosphate Dehydrogenase (G6PD) deficiency causes hemolytic anemia following the use of some drugs, bacterial or viral infections, or metabolic disorder such as acidosis. Three G6PD variants occur frequently and have clinical implications in different ethnic groups. Heinz bodies may appear in peripheral red blood cells when G6PD-mediated hemolysis occurs. Younger red cells and reticulocytes contain more G6PD and may cause normal values if blood is collected following a hemolytic crisis.
Source: Regenstrief Institute
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Glucose-6-Phosphate dehydrogenase newborn screening comment-discussion
- Property
- Txt
- Time
- Pt
- System
- Bld.dot
- Scale
- Nar
- Method
Additional Names
- Short Name
- G6PD NBS comment
- Display Name
- G6PD newborn screening comment-discussion Nar (DBS)
- Consumer Name Alpha Get Info
- Glucose-6-Phosphate dehydrogenase newborn screening comment-discussion, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.29
- Last Updated
- Version 2.42
- Order vs. Observation
- Observation
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 58091-0 | Glucose-6-Phosphate dehydrogenase newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Glucosa 6-Fosfatodeshidrogenasa screnning de recién nacidos comentario-discusión: |
| es-MX | Spanish (Mexico) | Comentario-discusión del cribado de recién nacidos con glucosa-6-fosfato deshidrogenasa: |
| fr-FR | French (France) | Glucose-6-phosphate déhydrogénase dépistage néonatal (commentaire-discussion): |
| fr-BE | French (Belgium) | Glucose-6-phosphate déshydrogénase Commentaires.screening néonatal.discussion: Synonyms: G6P-déshydrogénase, G6PD,G6PDH |
| it-IT | Italian (Italy) | Glucosio-6-Fosfato deidrogenasi, screening neonatale, commenti-discussione: Synonyms: Chimica Commento/discussione di screening neonatale per glucosio-6-Fosfato deidrogenasi G6PD Punto nel tempo (episodio) Sangue Spot sangue secco Testo |
| nl-NL | Dutch (Netherlands) | glucose-6-fosfatedehydrogenase screening van pasgeborene commentaar-discussie: |
| pl-PL | Polish (Poland) | Dehydrogenaza glukozo-6-fosforanu komentarz-dyskusja nad badaniami przesiewowymi noworodka: Synonyms: Dehydrogenaza glukozo-6-fosforanu (G6PD) badanie przesiewowe noworodków interpretacja |
| pt-BR | Portuguese (Brazil) | Glicose-6-Fosfato dehidrogenase triagem neonatal comentários-discussão: Synonyms: Phos; |
| ru-RU | Russian (Russian Federation) | Глюкозо-6-фосфат дегидрогеназа новорожденный скрининг комментарий-дискуссия: Synonyms: Кровь Кровь сухая капля Описательный Текст Точка во времени; |
| tr-TR | Turkish (Turkey) | Glukoz-6-Fosfat dehidrojenaz yenidoğan tarama öneri-tartışma: |
| zh-CN | Chinese (China) | 葡萄糖-6-磷酸脱氢酶 新生儿筛查注释-讨论: Synonyms: Asympt G6PD; |
33287-4 Glucose-6-Phosphate dehydrogenase [Presence] in DBS
Part Descriptions
LP15601-5 Glucose-6-Phosphate dehydrogenase
Glucose 6-Phosphate Dehydrogenase (G6PD) deficiency causes hemolytic anemia following the use of some drugs, bacterial or viral infections, or metabolic disorder such as acidosis. Three G6PD variants occur frequently and have clinical implications in different ethnic groups. Heinz bodies may appear in peripheral red blood cells when G6PD-mediated hemolysis occurs. Younger red cells and reticulocytes contain more G6PD and may cause normal values if blood is collected following a hemolytic crisis.
Source: Regenstrief Institute
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Glucose-6-Phosphate dehydrogenase
- Property
- PrThr
- Time
- Pt
- System
- Bld.dot
- Scale
- Ord
- Method
Additional Names
- Short Name
- G6PD DBS Ql
- Display Name
- G6PD Ql (DBS)
- Consumer Name Alpha Get Info
- Glucose-6-Phosphate dehydrogenase, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.09
- Last Updated
- Version 2.73
- Change Reason
- The PrThr property is used for LOINC terms whose results are reported using an ordered categorical scale, regardless of whether or not an internal threshold was used to make that determination. This change was approved by the Laboratory LOINC Committee in June 2016.
- Order vs. Observation
- Both
- Common Test Rank Get Info
- 2488
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 58091-0 | Glucose-6-Phosphate dehydrogenase newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-MX | Spanish (Mexico) | Glucosa-6-fosfato deshidrogenasa: |
| es-ES | Spanish (Spain) | Glucosa 6-Fosfatodeshidrogenasa: |
| es-AR | Spanish (Argentina) | glucosa-6-fosfato deshidrogenasa: |
| et-EE | Estonian (Estonia) | Glükoos-6-fosfaadi dehüdrogenaas: Synonyms: Järgarvuline Juhuslik Veri |
| fr-CA | French (Canada) | Glucose-6-phosphate déshydrogénase: |
| fr-FR | French (France) | Glucose-6-phosphate déhydrogénase: |
| fr-BE | French (Belgium) | Glucose-6-phosphate déshydrogénase: Synonyms: G6P-déshydrogénase, G6PD,G6PDH |
| it-IT | Italian (Italy) | Glucosio-6-Fosfato deidrogenasi: Synonyms: Chimica G6PD Presenza o Soglia Punto nel tempo (episodio) Sangue Spot sangue secco |
| ko-KR | Korean (Korea, Republic Of) | 포도당-6-인산탈수소효소: |
| nl-NL | Dutch (Netherlands) | glucose-6-fosfatedehydrogenase: |
| pl-PL | Polish (Poland) | Dehydrogenaza glukozo-6-fosforanu: |
| pt-BR | Portuguese (Brazil) | Glicose-6-Fosfato Dehidrogenase: Synonyms: Phos; |
| ru-RU | Russian (Russian Federation) | Глюкозо-6-фосфат дегидрогеназа: Synonyms: Кровь Кровь сухая капля Порядковый Точка во времени; |
| tr-TR | Turkish (Turkey) | Glukoz-6-Fosfat dehidrojenaz: Synonyms: Mevcut |
| zh-CN | Chinese (China) | 葡萄糖-6-磷酸脱氢酶: Synonyms: G6PD; |
62300-9 Lysosomal storage disorders newborn screening panel
Reference Information
| Type | Source | Reference |
|---|---|---|
| Article | National Library of Medicine | Wang RY, Bodamer OA, Watson MS, Wilcox WR; ACMG Work Group on Diagnostic Confirmation of Lysosomal Storage Diseases. Lysosomal storage diseases: diagnostic confirmation and management of presymptomatic individuals. Genet Med. 2011 May;13(5):457-84. [PMID: 21502868] Genet Med |
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Lysosomal storage disorders newborn screening panel
- Property
- -
- Time
- Pt
- System
- Bld.dot
- Scale
- -
- Method
Additional Names
- Short Name
- LSD NBS pnl DBS
- Display Name
- Lysosomal storage disorders NBS panel (DBS)
- Consumer Name Alpha Get Info
- Lysosomal Storage Disorders NBS Panel, Dried blood spot
Basic Attributes
- Class
- PANEL.CHEM
- Type
- Laboratory
- First Released
- Version 2.34
- Last Updated
- Version 2.77
- Order vs. Observation
- Order
- Panel Type
- Panel
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Cribado de trastornos de almacenamiento lisosomal en recién nacido: |
| es-MX | Spanish (Mexico) | Panel de cribado neonatal de trastornos por almacenamiento lisosómico: |
| fr-FR | French (France) | Maladie lysosomiales dépistage néonatal panel: |
| it-IT | Italian (Italy) | Disturbo da accumulo lisosomiale, panel screening neonatale: Synonyms: Chimica Panel screening neonatale Panel screening neonatale per disturbo da accumulo Punto nel tempo (episodio) Sangue Set di prescrizione chimica Spot sangue secco |
| nl-NL | Dutch (Netherlands) | lysosomale stapelingsziekte pasgeborene screening panel: |
| pt-BR | Portuguese (Brazil) | Doenças de depósito lisossômico painel de triagem neonatal: |
| ru-RU | Russian (Russian Federation) | Лизосомальные болезни накопления новорождённых скрининг панель: Synonyms: Кровь Кровь сухая капля Точка во времени; |
| zh-CN | Chinese (China) | 溶酶体贮积症新生儿筛查组套: Synonyms: Asympt SCN 全血斑点(滤纸); |
62301-7 Lysosomal storage disorders newborn screen interpretation
Part Descriptions
LP111174-1 Lysosomal storage disorders
Lysosomal storage diseases (LSDs) are a group of approximately 40 rare inherited metabolic disorders that result from defects in lysosomal function. Lysosomal storage diseases result when a specific organelle in the body's cells - the lysosome - malfunctions.
Tay-Sachs disease was the first of these disorders to be described, followed by Gaucher disease.
Lysosomal storage disorders are caused by lysosomal dysfunction usually as a consequence of deficiency of a single enzyme required for the metabolism of lipids, glycoproteins (sugar containing proteins) or so-called mucopolysaccharides. Individually, LSDs occur with incidences of less than 1:100.000, however, as a group the incidence is about 1:5000 - 1:10.000. Most of these disorders are autosomal recessively inherited, however a few are X-linked recessively inherited, such as Fabry disease and Hunter syndrome (MPS II).
Copyright Text is available under the Creative Commons Attribution/Share-Alike License. See http://creativecommons.org/licenses/by-sa/3.0/ for details.
Source: Wikipedia, Wikipedia
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Lysosomal storage disorders
- Property
- Imp
- Time
- Pt
- System
- Bld.dot
- Scale
- Nom
- Method
Additional Names
- Short Name
- LSD DBS-Imp
- Display Name
- Lysosomal storage disorders (DBS) [Interp]
- Consumer Name Alpha Get Info
- Lysosomal storage disorders, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.34
- Last Updated
- Version 2.71
- Change Reason
- Changed answer list from "Normative" to "Preferred" to fit the current LOINC model.
- Order vs. Observation
- Observation
Preferred Answer List LL840-0
| Answer | Code | Score | Answer ID |
|---|---|---|---|
| In range | LA18592-8 | ||
| Borderline | LA4259-3 | ||
| Indeterminate Copyright http://snomed.info/sct ID:82334004 Indeterminate (qualifier value) | LA11884-6 | ||
| Out of range | LA18593-6 | ||
| Out of range requiring further dried blood spot testing for at least one condition | LA12430-7 | ||
| Out of range requiring immediate referral | LA25817-0 | ||
| Out of range requiring immediate second-tier testing for at least one condition | LA12431-5 | ||
| Out of range requiring deferred follow-up for at least one condition | LA18594-4 | ||
| One or more tests pending | LA16204-2 | ||
| Specimen unsatisfactory for at least one condition | LA16205-9 |
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 105458-4 | Lysosomal and peroxisomal storage disorders panel - DBS |
| 62300-9 | Lysosomal storage disorders newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Trastornos de almacenamiento lisosomal: |
| es-MX | Spanish (Mexico) | Trastornos por almacenamiento lisosómico: |
| fr-FR | French (France) | Maladie lysosomiales: |
| fr-BE | French (Belgium) | Lysosomes.Maladie stockage.: |
| it-IT | Italian (Italy) | Disturbo da accumulo lisosomiale: Synonyms: Chimica Impressione/interpretazione di studio Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | lysosomale stapelingsziekte: |
| pt-BR | Portuguese (Brazil) | Doenças de depósito lisossômico: |
| ru-RU | Russian (Russian Federation) | Лизосомальные болезни накопления: Synonyms: Впечатление/интерпретация исследования Кровь Кровь сухая капля Номинальный; |
| tr-TR | Turkish (Turkey) | Lizozomal depo bozukluğu: |
| zh-CN | Chinese (China) | 溶酶体贮积症: Synonyms: 全血斑点(滤纸); |
Third Party Copyright
This material includes SNOMED Clinical Terms® (SNOMED CT®) which is used by permission of the International Health Terminology Standards Development Organisation (IHTSDO) under license. All rights reserved. SNOMED CT® was originally created by The College of American Pathologists. "SNOMED" and "SNOMED CT" are registered trademarks of the IHTSDO.
This material includes content from the US Edition to SNOMED CT, which is developed and maintained by the U.S. National Library of Medicine and is available to authorized UMLS Metathesaurus Licensees from the UTS Downloads site at https://uts.nlm.nih.gov.
Use of SNOMED CT content is subject to the terms and conditions set forth in the SNOMED CT Affiliate License Agreement. It is the responsibility of those implementing this product to ensure they are appropriately licensed and for more information on the license, including how to register as an Affiliate Licensee, please refer to http://www.snomed.org/snomed-ct/get-snomed-ct or info@snomed.org<mailto:info@snomed.org>. This may incur a fee in SNOMED International non-Member countries.
62303-3 Lysosomal storage disorders newborn screening comment-discussion
Part Descriptions
LP111174-1 Lysosomal storage disorders
Lysosomal storage diseases (LSDs) are a group of approximately 40 rare inherited metabolic disorders that result from defects in lysosomal function. Lysosomal storage diseases result when a specific organelle in the body's cells - the lysosome - malfunctions.
Tay-Sachs disease was the first of these disorders to be described, followed by Gaucher disease.
Lysosomal storage disorders are caused by lysosomal dysfunction usually as a consequence of deficiency of a single enzyme required for the metabolism of lipids, glycoproteins (sugar containing proteins) or so-called mucopolysaccharides. Individually, LSDs occur with incidences of less than 1:100.000, however, as a group the incidence is about 1:5000 - 1:10.000. Most of these disorders are autosomal recessively inherited, however a few are X-linked recessively inherited, such as Fabry disease and Hunter syndrome (MPS II).
Copyright Text is available under the Creative Commons Attribution/Share-Alike License. See http://creativecommons.org/licenses/by-sa/3.0/ for details.
Source: Wikipedia, Wikipedia
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Lysosomal storage disorders newborn screening comment-discussion
- Property
- Txt
- Time
- Pt
- System
- Bld.dot
- Scale
- Nar
- Method
Additional Names
- Short Name
- LSD NBS comment
- Display Name
- Lysosomal storage disorders newborn screening comment-discussion Nar (DBS)
- Consumer Name Alpha Get Info
- Lysosomal storage disorders newborn screening comment-discussion, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.34
- Last Updated
- Version 2.42
- Order vs. Observation
- Observation
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 62300-9 | Lysosomal storage disorders newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Trastornos de almacenamiento lisosomal screnning de recién nacidos comentario-discusión: |
| es-MX | Spanish (Mexico) | Trastornos por almacenamiento lisosómico cribado neonatal comentario / discusión: |
| fr-FR | French (France) | Maladie lysosomiales dépistage néonatal (commentaire-discussion): |
| fr-BE | French (Belgium) | Lysosomes.Maladie stockage. Commentaires.screening néonatal.discussion: |
| it-IT | Italian (Italy) | Disturbo da accumulo lisosomiale, screening neonatale, commenti-discussione: Synonyms: Chimica Commento-discussione di screening neonatale per disturbo da accumulo lisosomiale Punto nel tempo (episodio) Sangue Spot sangue secco Testo |
| nl-NL | Dutch (Netherlands) | lysosomale stapelingsziekte screening van pasgeborene commentaar-discussie: |
| pt-BR | Portuguese (Brazil) | Doenças de depósito lisossômico triagem neonatal comentários-discussão: |
| ru-RU | Russian (Russian Federation) | Лизосомальные болезни накопления новорожденный скрининг комментарий-дискуссия: Synonyms: Кровь Кровь сухая капля Описательный Текст Точка во времени; |
| tr-TR | Turkish (Turkey) | Lizozomal depo bozukluğu yenidoğan tarama öneri-tartışma: |
| zh-CN | Chinese (China) | 溶酶体贮积症 新生儿筛查注释-讨论: Synonyms: Asympt SCN 全血斑点(滤纸); |
62302-5 Lysosomal storage disorders suspected [Identifier] in DBS
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Lysosomal storage disorders suspected
- Property
- Prid
- Time
- Pt
- System
- Bld.dot
- Scale
- Nom
- Method
Additional Names
- Short Name
- LSD suspected DBS
- Display Name
- Lysosomal storage disorders suspected Nom (DBS)
- Consumer Name Alpha Get Info
- Lysosomal storage disorders suspected, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.34
- Last Updated
- Version 2.61
- Change Reason
- Changed answer list from "Normative" to "Preferred" to fit the current LOINC model.
- Order vs. Observation
- Observation
Preferred Answer List LL1043-0
| Answer | Code | Score | Answer ID |
|---|---|---|---|
| Fabry disease Copyright http://snomed.info/sct ID:16652001 Fabry's disease (disorder) | LA14036-0 | ||
| Pompe disease Copyright http://snomed.info/sct ID:274864009 Glycogen storage disease due to acid maltase deficiency (disorder) | LA14037-8 | ||
| Krabbe disease Copyright http://snomed.info/sct ID:192782005 Galactosylceramide beta-galactosidase deficiency (disorder) | LA14038-6 | ||
| Niemann Pick disease A/B Copyright http://snomed.info/sct ID:58459009 Sphingomyelin/cholesterol lipidosis (disorder) | LA14040-2 | ||
| Gaucher disease Copyright http://snomed.info/sct ID:190794006 Glucosylceramide beta-glucosidase deficiency (disorder) | LA14039-4 | ||
| Mucopolysaccharidosis type I Copyright http://snomed.info/sct ID:75610003 Mucopolysaccharidosis type I (disorder) | LA25797-4 | ||
| Mucopolysaccharidosis type II (disorder) | LA34470-7 |
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 62300-9 | Lysosomal storage disorders newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Sospecha de trastornos de almacenamiento lisosomal: |
| es-MX | Spanish (Mexico) | Se sospecha de trastornos por almacenamiento lisosómico: |
| fr-FR | French (France) | Maladie lysosomiales suspectées: |
| fr-BE | French (Belgium) | Lysosomes.Suspicion Maladie stockage.: |
| it-IT | Italian (Italy) | Disturbo da accumulo lisosomiale sospetto: Synonyms: Chimica Presenza o Identità Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | lysosomale stapelingsziekte verdenking: |
| pt-BR | Portuguese (Brazil) | Suspeita de Doenças de depósito lisossômico: |
| ru-RU | Russian (Russian Federation) | Лизосомальные болезни накопления предполагаемые: Synonyms: Кровь Кровь сухая капля Номинальный; |
| tr-TR | Turkish (Turkey) | Lizozomal depo bozukluğu şüpheli: |
| zh-CN | Chinese (China) | 所怀疑的溶酶体贮积症: Synonyms: 全血斑点(滤纸); |
Third Party Copyright
This material includes SNOMED Clinical Terms® (SNOMED CT®) which is used by permission of the International Health Terminology Standards Development Organisation (IHTSDO) under license. All rights reserved. SNOMED CT® was originally created by The College of American Pathologists. "SNOMED" and "SNOMED CT" are registered trademarks of the IHTSDO.
This material includes content from the US Edition to SNOMED CT, which is developed and maintained by the U.S. National Library of Medicine and is available to authorized UMLS Metathesaurus Licensees from the UTS Downloads site at https://uts.nlm.nih.gov.
Use of SNOMED CT content is subject to the terms and conditions set forth in the SNOMED CT Affiliate License Agreement. It is the responsibility of those implementing this product to ensure they are appropriately licensed and for more information on the license, including how to register as an Affiliate Licensee, please refer to http://www.snomed.org/snomed-ct/get-snomed-ct or info@snomed.org<mailto:info@snomed.org>. This may incur a fee in SNOMED International non-Member countries.
62304-1 Fabry disease newborn screening panel
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Fabry disease newborn screening panel
- Property
- -
- Time
- Pt
- System
- Bld.dot
- Scale
- -
- Method
Additional Names
- Short Name
- Fabry disease NBS pnl DBS
- Display Name
- Fabry disease NBS panel (DBS)
- Consumer Name Alpha Get Info
- Fabry Disease NBS Panel, Dried blood spot
Basic Attributes
- Class
- PANEL.CHEM
- Type
- Laboratory
- First Released
- Version 2.34
- Last Updated
- Version 2.77
- Order vs. Observation
- Order
- Panel Type
- Panel
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 62300-9 | Lysosomal storage disorders newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Cribado de enfermedad de Fabry en recién nacido: |
| es-MX | Spanish (Mexico) | Panel de cribado neonatal de la enfermedad de Fabry: |
| fr-FR | French (France) | Maladie de Fabry dépistage néonatal panel: |
| it-IT | Italian (Italy) | Malattia di Fabry, panel screening neonatale: Synonyms: Chimica Panel screening neonatale Panel screening neonatale per malattia di Fabry Punto nel tempo (episodio) Sangue Set di prescrizione chimica Spot sangue secco |
| nl-NL | Dutch (Netherlands) | ziekte van Fabry pasgeborene screeningspanel: |
| pt-BR | Portuguese (Brazil) | Doença de Fabry painel de triagem neonatal: |
| ru-RU | Russian (Russian Federation) | Фабри болезнь новорожденных скрининг панель: Synonyms: Кровь Кровь сухая капля Точка во времени; |
| zh-CN | Chinese (China) | 法布里病新生儿筛查组套: Synonyms: Asympt SCN 全血斑点(滤纸); |
62305-8 Fabry disease newborn screen interpretation
Observation Required in Panel
Required
Fully-Specified Name
- Component
- Fabry disease
- Property
- Imp
- Time
- Pt
- System
- Bld.dot
- Scale
- Nom
- Method
Additional Names
- Short Name
- Fabry disease DBS-Imp
- Display Name
- Fabry disease (DBS) [Interp]
- Consumer Name Alpha Get Info
- Fabry disease, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.34
- Last Updated
- Version 2.56
- Change Reason
- Changed answer list from "Normative" to "Preferred" to fit the current LOINC model.
- Order vs. Observation
- Observation
Preferred Answer List LL840-0
| Answer | Code | Score | Answer ID |
|---|---|---|---|
| In range | LA18592-8 | ||
| Borderline | LA4259-3 | ||
| Indeterminate Copyright http://snomed.info/sct ID:82334004 Indeterminate (qualifier value) | LA11884-6 | ||
| Out of range | LA18593-6 | ||
| Out of range requiring further dried blood spot testing for at least one condition | LA12430-7 | ||
| Out of range requiring immediate referral | LA25817-0 | ||
| Out of range requiring immediate second-tier testing for at least one condition | LA12431-5 | ||
| Out of range requiring deferred follow-up for at least one condition | LA18594-4 | ||
| One or more tests pending | LA16204-2 | ||
| Specimen unsatisfactory for at least one condition | LA16205-9 |
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 62300-9 | Lysosomal storage disorders newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Enfemedad de Fabry: |
| es-MX | Spanish (Mexico) | Enfermedad de Fabry: |
| fr-CA | French (Canada) | Maladie de Fabry: |
| fr-FR | French (France) | Maladie de Fabry: |
| fr-BE | French (Belgium) | Maladie de Fabry: |
| it-IT | Italian (Italy) | Malattia di Fabry: Synonyms: Chimica Impressione/interpretazione di studio Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | ziekte van Fabry: |
| pt-BR | Portuguese (Brazil) | Doença de Fabry: |
| ru-RU | Russian (Russian Federation) | Фабри болезнь: Synonyms: Впечатление/интерпретация исследования Кровь Кровь сухая капля Номинальный; |
| tr-TR | Turkish (Turkey) | Fabry hastalığı: |
| zh-CN | Chinese (China) | 法布里病: Synonyms: 全血斑点(滤纸); |
Third Party Copyright
This material includes SNOMED Clinical Terms® (SNOMED CT®) which is used by permission of the International Health Terminology Standards Development Organisation (IHTSDO) under license. All rights reserved. SNOMED CT® was originally created by The College of American Pathologists. "SNOMED" and "SNOMED CT" are registered trademarks of the IHTSDO.
This material includes content from the US Edition to SNOMED CT, which is developed and maintained by the U.S. National Library of Medicine and is available to authorized UMLS Metathesaurus Licensees from the UTS Downloads site at https://uts.nlm.nih.gov.
Use of SNOMED CT content is subject to the terms and conditions set forth in the SNOMED CT Affiliate License Agreement. It is the responsibility of those implementing this product to ensure they are appropriately licensed and for more information on the license, including how to register as an Affiliate Licensee, please refer to http://www.snomed.org/snomed-ct/get-snomed-ct or info@snomed.org<mailto:info@snomed.org>. This may incur a fee in SNOMED International non-Member countries.
62306-6 Fabry disease newborn screening comment-discussion
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Fabry disease newborn screening comment-discussion
- Property
- Txt
- Time
- Pt
- System
- Bld.dot
- Scale
- Nar
- Method
Additional Names
- Short Name
- Fabry disease NBS comment
- Display Name
- Fabry disease newborn screening comment-discussion Nar (DBS)
- Consumer Name Alpha Get Info
- Fabry disease newborn screening comment-discussion, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.34
- Last Updated
- Version 2.42
- Order vs. Observation
- Observation
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 62300-9 | Lysosomal storage disorders newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Enfemedad de Fabry screnning de recién nacidos comentario-discusión: |
| es-MX | Spanish (Mexico) | Comentario-discusión sobre la detección del recién nacido de la enfermedad de Fabry: |
| fr-FR | French (France) | Maladie de Fabry dépistage néonatal (commentaire-discussion): |
| fr-BE | French (Belgium) | Maladie de Fabry Commentaires.screening néonatal.discussion: |
| it-IT | Italian (Italy) | Malattia di Fabry, screening neonatale, commenti-discussione: Synonyms: Chimica Commento-discussione di screening neonatale per malattia di Fabry Punto nel tempo (episodio) Sangue Spot sangue secco Testo |
| nl-NL | Dutch (Netherlands) | ziekte van Fabry screening van pasgeborene commentaar-discussie: |
| pt-BR | Portuguese (Brazil) | Doença de Fabry triagem neonatal comentários-discussão: |
| ru-RU | Russian (Russian Federation) | Фабри болезнь новорожденный скрининг комментарий-дискуссия: Synonyms: Кровь Кровь сухая капля Описательный Текст Точка во времени; |
| tr-TR | Turkish (Turkey) | Fabry hastalığı yenidoğan tarama öneri-tartışma: |
| zh-CN | Chinese (China) | 法布里病 新生儿筛查注释-讨论: Synonyms: Asympt SCN 全血斑点(滤纸); |
55908-8 Alpha galactosidase A [Enzymatic activity/volume] in DBS
Term Description
This is a newborn screening test to detect enzymatic activity in dried blood spot to screen for Fabry disease, which is an inherited disorder that results from the buildup of a fatty substance called globotriaosylceramide in the body's cells. This buildup leads to episodes of pain, particularly in the hands and feet; small, dark red spots on the skin called angiokeratomas; decreased sweating (hypohidrosis); corneal opacity; and hearing loss. Fabry disease can also involve potentially life-threatening complications such as progressive kidney damage, heart attack, and stroke. This disorder is caused by mutations in the GLA gene; it has an X-linked pattern of inheritance.
Source: Regenstrief LOINC
Part Descriptions
LP14012-6 Alpha galactosidase A
Alpha (A) galactosidase is an enzyme used in sphingolipid metabolism. The deficiency of the enzyme leads to accumulation of various products that may lead to Fabry's disease, which is lysosomal storage disorder.
Source: Regenstrief Institute
Reference Information
| Type | Source | Reference |
|---|---|---|
| Article | National Library of Medicine | Wang RY, Bodamer OA, Watson MS, Wilcox WR; ACMG Work Group on Diagnostic Confirmation of Lysosomal Storage Diseases. Lysosomal storage diseases: diagnostic confirmation and management of presymptomatic individuals. Genet Med. 2011 May;13(5):457-84. [PMID: 21502868] Genet Med |
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Alpha galactosidase A
- Property
- CCnc
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- A-Galactosidase A DBS-cCnc
- Display Name
- Alpha galactosidase A (DBS) [Catalytic activity/Vol]
- Consumer Name Alpha Get Info
- Alpha Galactosidase A, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.29
- Last Updated
- Version 2.70
- Order vs. Observation
- Both
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 105458-4 | Lysosomal and peroxisomal storage disorders panel - DBS |
| 62300-9 | Lysosomal storage disorders newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| de-AT | German (Austria) | Synonyms: Alpha-Galaktosidase /BT |
| es-ES | Spanish (Spain) | Alfa galactosidasa A: Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Alfa galactosidasa A: |
| et-EE | Estonian (Estonia) | Alfagalaktosidaas: Synonyms: Juhuslik Kvantitatiivne Veri |
| fr-CA | French (Canada) | Alpha galactosidase A: |
| fr-FR | French (France) | Alpha galactosidase A: |
| fr-BE | French (Belgium) | Alpha galactosidase A: |
| it-IT | Italian (Italy) | Alfa galattosidasi A: Synonyms: Chimica Concentrazione Catalitica Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | alfa-galactosidase A: |
| pt-BR | Portuguese (Brazil) | Alfa galactosidase: Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Альфа галактозидаза A: Synonyms: Каталитическая концентрация Количественный Кровь Кровь сухая капля Точка во времени; |
| tr-TR | Turkish (Turkey) | Alfa galaktozidaz A: |
| zh-CN | Chinese (China) | Alpha 半乳糖苷酶: Synonyms: A 型 A-D-半乳糖苷酶; |
Example Units
| Unit | Source |
|---|---|
| umol/L/h | Example UCUM Units |
62307-4 Krabbe disease newborn screening panel
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Krabbe disease newborn screening panel
- Property
- -
- Time
- Pt
- System
- Bld.dot
- Scale
- -
- Method
Additional Names
- Short Name
- Krabbe disease NBS pnl DBS
- Display Name
- Krabbe disease NBS panel (DBS)
- Consumer Name Alpha Get Info
- Krabbe Disease NBS Panel, Dried blood spot
Basic Attributes
- Class
- PANEL.CHEM
- Type
- Laboratory
- First Released
- Version 2.34
- Last Updated
- Version 2.77
- Order vs. Observation
- Order
- Panel Type
- Panel
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 62300-9 | Lysosomal storage disorders newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Cribado de enfermedad de Krabbe en recién nacido: |
| es-MX | Spanish (Mexico) | Panel de detección de recién nacidos con enfermedad de Krabbe: |
| fr-FR | French (France) | Maladie de Krabbe dépistage néonatal panel: |
| it-IT | Italian (Italy) | Malattia di Krabbe, panel screening neonatale: Synonyms: Chimica Panel screening neonatale Panel screening neonatale per malattia di Krabbe Punto nel tempo (episodio) Sangue Set di prescrizione chimica Spot sangue secco |
| nl-NL | Dutch (Netherlands) | ziekte van Krabbe pasgeborene screening panel: |
| pt-BR | Portuguese (Brazil) | Doença de Krabbe painel de triagem neonatal: |
| ru-RU | Russian (Russian Federation) | Краббе болезнь новорожденных скрининг панель: Synonyms: Кровь Кровь сухая капля Точка во времени; |
| zh-CN | Chinese (China) | 遗传性脑白质萎缩新生儿筛查组套: Synonyms: Asympt SCN 克拉伯病; |
62308-2 Krabbe disease newborn screen interpretation
Observation Required in Panel
Required
Fully-Specified Name
- Component
- Krabbe disease
- Property
- Imp
- Time
- Pt
- System
- Bld.dot
- Scale
- Nom
- Method
Additional Names
- Short Name
- Krabbe disease DBS-Imp
- Display Name
- Krabbe disease (DBS) [Interp]
- Consumer Name Alpha Get Info
- Krabbe disease, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.34
- Last Updated
- Version 2.56
- Change Reason
- Changed answer list from "Normative" to "Preferred" to fit the current LOINC model.
- Order vs. Observation
- Observation
Preferred Answer List LL840-0
| Answer | Code | Score | Answer ID |
|---|---|---|---|
| In range | LA18592-8 | ||
| Borderline | LA4259-3 | ||
| Indeterminate Copyright http://snomed.info/sct ID:82334004 Indeterminate (qualifier value) | LA11884-6 | ||
| Out of range | LA18593-6 | ||
| Out of range requiring further dried blood spot testing for at least one condition | LA12430-7 | ||
| Out of range requiring immediate referral | LA25817-0 | ||
| Out of range requiring immediate second-tier testing for at least one condition | LA12431-5 | ||
| Out of range requiring deferred follow-up for at least one condition | LA18594-4 | ||
| One or more tests pending | LA16204-2 | ||
| Specimen unsatisfactory for at least one condition | LA16205-9 |
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 62300-9 | Lysosomal storage disorders newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Enfermedad de Krabbe: |
| es-MX | Spanish (Mexico) | Enfermedad de Krabbe: |
| fr-CA | French (Canada) | Maladie de Krabbe: |
| fr-FR | French (France) | Maladie de Krabbe: |
| fr-BE | French (Belgium) | Maladie de Krabbe: |
| it-IT | Italian (Italy) | Malattia di Krabbe: Synonyms: Chimica Impressione/interpretazione di studio Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | ziekte van Krabbe: |
| pt-BR | Portuguese (Brazil) | Doença de Krabbe: |
| ru-RU | Russian (Russian Federation) | Краббе болезнь: Synonyms: Впечатление/интерпретация исследования Кровь Кровь сухая капля Номинальный; |
| tr-TR | Turkish (Turkey) | Krabbe hastalığı: |
| zh-CN | Chinese (China) | 遗传性脑白质萎缩: Synonyms: 克拉伯病; |
Third Party Copyright
This material includes SNOMED Clinical Terms® (SNOMED CT®) which is used by permission of the International Health Terminology Standards Development Organisation (IHTSDO) under license. All rights reserved. SNOMED CT® was originally created by The College of American Pathologists. "SNOMED" and "SNOMED CT" are registered trademarks of the IHTSDO.
This material includes content from the US Edition to SNOMED CT, which is developed and maintained by the U.S. National Library of Medicine and is available to authorized UMLS Metathesaurus Licensees from the UTS Downloads site at https://uts.nlm.nih.gov.
Use of SNOMED CT content is subject to the terms and conditions set forth in the SNOMED CT Affiliate License Agreement. It is the responsibility of those implementing this product to ensure they are appropriately licensed and for more information on the license, including how to register as an Affiliate Licensee, please refer to http://www.snomed.org/snomed-ct/get-snomed-ct or info@snomed.org<mailto:info@snomed.org>. This may incur a fee in SNOMED International non-Member countries.
62309-0 Krabbe disease newborn screening comment-discussion
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Krabbe disease newborn screening comment-discussion
- Property
- Txt
- Time
- Pt
- System
- Bld.dot
- Scale
- Nar
- Method
Additional Names
- Short Name
- Krabbe disease NBS comment
- Display Name
- Krabbe disease newborn screening comment-discussion Nar (DBS)
- Consumer Name Alpha Get Info
- Krabbe disease newborn screening comment-discussion, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.34
- Last Updated
- Version 2.42
- Order vs. Observation
- Observation
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 62300-9 | Lysosomal storage disorders newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Enfermedad de Krabbe screnning de recién nacidos comentario-discusión: |
| es-MX | Spanish (Mexico) | Comentario-discusión sobre la detección del recién nacido de la enfermedad de Krabbe: |
| fr-FR | French (France) | Maladie de Krabbe dépistage néonatal (commentaire-discussion): |
| fr-BE | French (Belgium) | Maladie de Krabbe Commentaires.screening néonatal.discussion: |
| it-IT | Italian (Italy) | Malattia di Krabbe, screening neonatale, commenti-discussione: Synonyms: Chimica Commento-discussione di screening neonatale per malattia di Krabbe Punto nel tempo (episodio) Sangue Spot sangue secco Testo |
| nl-NL | Dutch (Netherlands) | ziekte van Krabbe screening van pasgeborene commentaar-discussie: |
| pt-BR | Portuguese (Brazil) | Doença de Krabbe triagem neonatal comentários-discussão: |
| ru-RU | Russian (Russian Federation) | Краббе болезнь новорожденный скрининг комментарий-дискуссия: Synonyms: Кровь Кровь сухая капля Описательный Текст Точка во времени; |
| tr-TR | Turkish (Turkey) | Krabbe hastalığı yenidoğan tarama öneri-tartışma: |
| zh-CN | Chinese (China) | 遗传性脑白质萎缩 新生儿筛查注释-讨论: Synonyms: Asympt SCN 克拉伯病; |
62310-8 Galactosylceramidase [Enzymatic activity/volume] in DBS
Part Descriptions
LP14027-4 Galactosylceramidase
An enzyme that hydrolyzes galactose from ceramide monohexosides. Deficiency of this enzyme may cause globoid cell leukodystrophy (LEUKODYSTROPHY, GLOBOID CELL). EC 3.2.1.46.
Source: National Library of Medicine, MeSH 2006
Reference Information
| Type | Source | Reference |
|---|---|---|
| Article | National Library of Medicine | Wang RY, Bodamer OA, Watson MS, Wilcox WR; ACMG Work Group on Diagnostic Confirmation of Lysosomal Storage Diseases. Lysosomal storage diseases: diagnostic confirmation and management of presymptomatic individuals. Genet Med. 2011 May;13(5):457-84. [PMID: 21502868] Genet Med |
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Galactosylceramidase
- Property
- CCnc
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- GALC DBS-cCnc
- Display Name
- Galactosylceramidase (DBS) [Catalytic activity/Vol]
- Consumer Name Alpha Get Info
- Galactosylceramidase, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.34
- Last Updated
- Version 2.61
- Order vs. Observation
- Both
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 105458-4 | Lysosomal and peroxisomal storage disorders panel - DBS |
| 62300-9 | Lysosomal storage disorders newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Galactosilceramidasa: Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Galactosilceramidasa: |
| et-EE | Estonian (Estonia) | Galaktosüülkeramidaas: Synonyms: Juhuslik Kvantitatiivne Veri |
| fr-CA | French (Canada) | Galactosylcéramidase: |
| fr-FR | French (France) | Galactosylcéramidase: |
| fr-BE | French (Belgium) | Galactosylcéramidase: |
| it-IT | Italian (Italy) | Galattosilceramidasi: Synonyms: Chimica Concentrazione Catalitica Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | galactosylceramidase: |
| pt-BR | Portuguese (Brazil) | Galactocerebrosidase: |
| ru-RU | Russian (Russian Federation) | Галактозилцерамидаза: Synonyms: Каталитическая концентрация Количественный Кровь Кровь сухая капля Точка во времени; |
| tr-TR | Turkish (Turkey) | Galaktozilseramidaz: |
| zh-CN | Chinese (China) | 半乳糖苷神经酰胺酶: Synonyms: Beta-半乳糖脑苷沉积症; |
Example Units
| Unit | Source |
|---|---|
| umol/L/h | Example UCUM Units |
62311-6 Gaucher disease newborn screening panel
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Gaucher disease newborn screening panel
- Property
- -
- Time
- Pt
- System
- Bld.dot
- Scale
- -
- Method
Additional Names
- Short Name
- Gaucher disease NBS pnl DBS
- Display Name
- Gaucher disease NBS panel (DBS)
- Consumer Name Alpha Get Info
- Gaucher Disease NBS Panel, Dried blood spot
Basic Attributes
- Class
- PANEL.CHEM
- Type
- Laboratory
- First Released
- Version 2.34
- Last Updated
- Version 2.77
- Order vs. Observation
- Order
- Panel Type
- Panel
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 62300-9 | Lysosomal storage disorders newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Cribado de enfermedad de Gaucher recién nacido: |
| es-MX | Spanish (Mexico) | Panel de cribado neonatal de la enfermedad de Gaucher: |
| fr-FR | French (France) | Maladie de Gaucher dépistage néonatal panel: |
| it-IT | Italian (Italy) | Malattia di Gaucher, panel screening neonatale: Synonyms: Chimica Panel screening neonatale Panel screening neonatale per malattia di Gaucher Punto nel tempo (episodio) Sangue Set di prescrizione chimica Spot sangue secco |
| nl-NL | Dutch (Netherlands) | ziekte van Gaucher pasgeborene screening panel: |
| pt-BR | Portuguese (Brazil) | Doença de Gaucher painel de triagem neonatal: |
| ru-RU | Russian (Russian Federation) | Гоше болезнь новорожденных скрининг панель: Synonyms: Кровь Кровь сухая капля Точка во времени; |
| zh-CN | Chinese (China) | 戈谢病新生儿筛查组套: Synonyms: Asympt Gaucher 病; |
62312-4 Gaucher disease newborn screen interpretation
Observation Required in Panel
Required
Fully-Specified Name
- Component
- Gaucher disease
- Property
- Imp
- Time
- Pt
- System
- Bld.dot
- Scale
- Nom
- Method
Additional Names
- Short Name
- Gaucher disease DBS-Imp
- Display Name
- Gaucher disease (DBS) [Interp]
- Consumer Name Alpha Get Info
- Gaucher disease, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.34
- Last Updated
- Version 2.56
- Change Reason
- Changed answer list from "Normative" to "Preferred" to fit the current LOINC model.
- Order vs. Observation
- Observation
Preferred Answer List LL840-0
| Answer | Code | Score | Answer ID |
|---|---|---|---|
| In range | LA18592-8 | ||
| Borderline | LA4259-3 | ||
| Indeterminate Copyright http://snomed.info/sct ID:82334004 Indeterminate (qualifier value) | LA11884-6 | ||
| Out of range | LA18593-6 | ||
| Out of range requiring further dried blood spot testing for at least one condition | LA12430-7 | ||
| Out of range requiring immediate referral | LA25817-0 | ||
| Out of range requiring immediate second-tier testing for at least one condition | LA12431-5 | ||
| Out of range requiring deferred follow-up for at least one condition | LA18594-4 | ||
| One or more tests pending | LA16204-2 | ||
| Specimen unsatisfactory for at least one condition | LA16205-9 |
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 62300-9 | Lysosomal storage disorders newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Enfermedad de Gaucher: |
| es-MX | Spanish (Mexico) | Enfermedad de Gaucher: |
| fr-FR | French (France) | Maladie de Gaucher: |
| it-IT | Italian (Italy) | Malattia di Gaucher: Synonyms: Chimica Impressione/interpretazione di studio Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | ziekte van Gaucher: |
| pt-BR | Portuguese (Brazil) | Doença de Gaucher: |
| ru-RU | Russian (Russian Federation) | Гоше болезнь: Synonyms: Впечатление/интерпретация исследования Кровь Кровь сухая капля Номинальный; |
| tr-TR | Turkish (Turkey) | Gaucher hastalığı: |
| zh-CN | Chinese (China) | 戈谢病: Synonyms: Gaucher 病; |
Third Party Copyright
This material includes SNOMED Clinical Terms® (SNOMED CT®) which is used by permission of the International Health Terminology Standards Development Organisation (IHTSDO) under license. All rights reserved. SNOMED CT® was originally created by The College of American Pathologists. "SNOMED" and "SNOMED CT" are registered trademarks of the IHTSDO.
This material includes content from the US Edition to SNOMED CT, which is developed and maintained by the U.S. National Library of Medicine and is available to authorized UMLS Metathesaurus Licensees from the UTS Downloads site at https://uts.nlm.nih.gov.
Use of SNOMED CT content is subject to the terms and conditions set forth in the SNOMED CT Affiliate License Agreement. It is the responsibility of those implementing this product to ensure they are appropriately licensed and for more information on the license, including how to register as an Affiliate Licensee, please refer to http://www.snomed.org/snomed-ct/get-snomed-ct or info@snomed.org<mailto:info@snomed.org>. This may incur a fee in SNOMED International non-Member countries.
62313-2 Gaucher disease newborn screening comment-discussion
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Gaucher disease newborn screening comment-discussion
- Property
- Txt
- Time
- Pt
- System
- Bld.dot
- Scale
- Nar
- Method
Additional Names
- Short Name
- Gaucher disease NBS comment
- Display Name
- Gaucher disease newborn screening comment-discussion Nar (DBS)
- Consumer Name Alpha Get Info
- Gaucher disease newborn screening comment-discussion, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.34
- Last Updated
- Version 2.42
- Order vs. Observation
- Observation
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 62300-9 | Lysosomal storage disorders newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Enfermedad de Gaucher screnning de recién nacidos comentario-discusión: |
| es-MX | Spanish (Mexico) | Comentario-discusión sobre la detección del recién nacido de la enfermedad de Gaucher: |
| fr-FR | French (France) | Maladie de Gaucher dépistage néonatal (commentaire-discussion): |
| it-IT | Italian (Italy) | Malattia di Gaucher, screening neonatale, commenti-discussione: Synonyms: Chimica Commento-discussione di screening neonatale per malattia di Gaucher Punto nel tempo (episodio) Sangue Spot sangue secco Testo |
| nl-NL | Dutch (Netherlands) | ziekte van Gaucher screening van pasgeborene commentaar-discussie: |
| pt-BR | Portuguese (Brazil) | Doença de Gaucher triagem neonatal comentários-discussão: |
| ru-RU | Russian (Russian Federation) | Гоше болезнь новорожденный скрининг комментарий-дискуссия: Synonyms: Кровь Кровь сухая капля Описательный Текст Точка во времени; |
| tr-TR | Turkish (Turkey) | Gaucher hastalığı yenidoğan tarama öneri-tartışma: |
| zh-CN | Chinese (China) | 戈谢病 新生儿筛查注释-讨论: Synonyms: Asympt Gaucher 病; |
55917-9 Glucosylceramidase [Enzymatic activity/volume] in DBS
Part Descriptions
LP15604-9 Glucosylceramidase
A glycosidase that hydrolyzes a glucosylceramide to yield free ceramide plus glucose. Deficiency of this enzyme leads to abnormally high concentrations of glucosylceramide in the brain in GAUCHER DISEASE. EC 3.2.1.45.
Source: National Library of Medicine, MeSH 2006
Reference Information
| Type | Source | Reference |
|---|---|---|
| Article | National Library of Medicine | Wang RY, Bodamer OA, Watson MS, Wilcox WR; ACMG Work Group on Diagnostic Confirmation of Lysosomal Storage Diseases. Lysosomal storage diseases: diagnostic confirmation and management of presymptomatic individuals. Genet Med. 2011 May;13(5):457-84. [PMID: 21502868] Genet Med |
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Glucosylceramidase
- Property
- CCnc
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- Glucosylceramidase DBS-cCnc
- Display Name
- Glucosylceramidase (DBS) [Catalytic activity/Vol]
- Consumer Name Alpha Get Info
- Glucosylceramidase, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.29
- Last Updated
- Version 2.70
- Change Reason
- Updated Component from "Acid beta glucosidase" per the recommended nomenclature [UniProt: P04062]
- Order vs. Observation
- Both
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 105458-4 | Lysosomal and peroxisomal storage disorders panel - DBS |
| 62300-9 | Lysosomal storage disorders newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| de-DE | German (Germany) | Beta-Glucosidase: |
| es-ES | Spanish (Spain) | Glucosilceramidasa: Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Glucosilceramidasa: |
| et-EE | Estonian (Estonia) | Glükosüülkeramidaas: Synonyms: Juhuslik Kvantitatiivne Veri |
| fr-CA | French (Canada) | Glucosylcéramidase: |
| fr-FR | French (France) | Glucosylcéramidase: |
| fr-BE | French (Belgium) | Glucosylcéramidase: |
| it-IT | Italian (Italy) | Glucosilceramidasi: Synonyms: Chimica Concentrazione Catalitica Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | glucosylceramidase: |
| pl-PL | Polish (Poland) | Ceramidaza glukozylowa: Synonyms: Ceramidaza glukozylowa |
| pt-BR | Portuguese (Brazil) | Beta glucosidase: Synonyms: Glucoinvertase; |
| ru-RU | Russian (Russian Federation) | Глюкозилцерамидаза: Synonyms: Каталитическая концентрация Количественный Кровь Кровь сухая капля Точка во времени; |
| tr-TR | Turkish (Turkey) | Glukozilseramidaz: |
| zh-CN | Chinese (China) | 葡糖神经酰胺酶: Synonyms: Beta 葡糖脑苷脂酶; |
Example Units
| Unit | Source |
|---|---|
| umol/L/h | Example UCUM Units |
79563-3 Mucopolysaccharidosis type I newborn screening panel
Term Description
The Mucopolysaccharidosis type I (MPS I) newborn screening panel is used to report the results of newborn screening for the diagnosis of MPS I, also known as Hurler syndrome, an inherited disorder in which the body is unable to produce an enzyme that is involved in the breakdown of large sugar molecules called glycosaminoglycans (GAGs). MPS I is caused by mutations in the IDUA gene and has an autosomal recessive pattern of inheritance.
Source: Regenstrief LOINC
Fully-Specified Name
- Component
- Mucopolysaccharidosis type I newborn screening panel
- Property
- -
- Time
- Pt
- System
- Bld.dot
- Scale
- -
- Method
Additional Names
- Short Name
- MPS I NBS Pnl DBS
- Display Name
- Mucopolysaccharidosis type I NBS panel (DBS)
- Consumer Name Alpha Get Info
- Mucopolysaccharidosis Type I NBS Panel, Dried blood spot
Basic Attributes
- Class
- PANEL.CHEM
- Type
- Laboratory
- First Released
- Version 2.54
- Last Updated
- Version 2.77
- Order vs. Observation
- Order
- Panel Type
- Panel
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 62300-9 | Lysosomal storage disorders newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Panel de cribado neonatal Mucopolisacaridosis tipo I: |
| es-MX | Spanish (Mexico) | Panel de cribado neonatal de mucopolisacaridosis tipo I: |
| fr-FR | French (France) | Mucopolysaccharidoses type I dépistage néonatal panel: |
| it-IT | Italian (Italy) | Mucopolisaccaridosi tipologia 1 screening neonatale, panel: Synonyms: Chimica Panel Mucopolisaccaridosi tipologia 1 screening ne Panel screening neonatale Punto nel tempo (episodio) Sangue Set di prescrizione chimica Spot sangue secco |
| nl-NL | Dutch (Netherlands) | mucopolysaccharidose type I pasgeborene screening panel: Synonyms: MPS soort |
| zh-CN | Chinese (China) | 粘多糖贮积症 I 型新生儿筛查组套: Synonyms: Asympt I 型 SCN 全血斑点(滤纸); |
55909-6 Alpha-L-iduronidase [Enzymatic activity/volume] in DBS
Part Descriptions
LP14016-7 Alpha-L-iduronidase
Hurler syndrome, also known as mucopolysaccharidosis type I (MPS I), Hurler's disease or gargoylism, is a genetic disorder that results in the buildup of mucopolysaccharides due to a deficiency of alpha-L iduronidase, an enzyme responsible for the degradation of mucopolysaccharides in lysosomes. Without this enzyme, a buildup of heparan sulfate and dermatan sulfate occurs in the body. Symptoms appear during childhood and early death can occur due to organ damage.
Copyright Text is available under the Creative Commons Attribution/Share-Alike License. See http://creativecommons.org/licenses/by-sa/3.0/ for details.
Source: Wikipedia, Alpha-L iduronidase
Fully-Specified Name
- Component
- Alpha-L-iduronidase
- Property
- CCnc
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- A-L-Iduronidase DBS-cCnc
- Display Name
- Alpha-L-iduronidase (DBS) [Catalytic activity/Vol]
- Consumer Name Alpha Get Info
- Alpha-L-iduronidase, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.29
- Last Updated
- Version 2.70
- Order vs. Observation
- Both
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 105458-4 | Lysosomal and peroxisomal storage disorders panel - DBS |
| 62300-9 | Lysosomal storage disorders newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| de-AT | German (Austria) | Synonyms: Alpha-Iduronidase /BT |
| es-ES | Spanish (Spain) | Alfa-L-iduronidasa: Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Alfa-L-iduronidasa: |
| et-EE | Estonian (Estonia) | Alfa-L-iduronidaas: Synonyms: Juhuslik Kvantitatiivne Veri |
| fr-CA | French (Canada) | Alpha-L-iduronidase: |
| fr-FR | French (France) | Alpha L-idurodinase: |
| fr-BE | French (Belgium) | Alpha-L-iduronidase: |
| it-IT | Italian (Italy) | Alfa-L-iduronidasi: Synonyms: Chimica Concentrazione Catalitica Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | alfa-L-iduronidase: |
| pt-BR | Portuguese (Brazil) | Alfa-L-iduronidase: Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Альфа-L-идуронидазы: Synonyms: Каталитическая концентрация Количественный Кровь Кровь сухая капля Точка во времени; |
| tr-TR | Turkish (Turkey) | Alfa-L-iduronidaz: |
| zh-CN | Chinese (China) | Alpha-L-艾杜糖苷酶: Synonyms: Alpha-L-艾杜糖醛酸苷酶; |
Example Units
| Unit | Source |
|---|---|
| umol/h/L | Example UCUM Units |
79564-1 Mucopolysaccharidosis type I newborn screen interpretation
Term Description
This observation indicates whether the newborn screen was in-range or out-of-range for the analytes related to Mucopolysaccharidosis type I (MPS I).
Source: Regenstrief LOINC
Part Descriptions
LP203226-8 Mucopolysaccharidosis type I
Mucopolysaccharidosis type I (MPS I) is a condition that affects many parts of the body. This disorder was once divided into three separate syndromes: Hurler syndrome (MPS I-H), Hurler-Scheie syndrome (MPS I-H/S), and Scheie syndrome (MPS I-S), listed from most to least severe. Because there is so much overlap between each of these three syndromes, MPS I is currently divided into the severe and attenuated types. Mutations in the IDUA gene cause MPS I. The IDUA gene provides instructions for producing an enzyme that is involved in the breakdown of large sugar molecules called glycosaminoglycans (GAGs). GAGs were originally called mucopolysaccharides, which is where this condition gets its name. Mutations in the IDUA gene reduce or completely eliminate the function of the IDUA enzyme. The lack of IDUA enzyme activity leads to the accumulation of GAGs within cells, specifically inside the lysosomes. Lysosomes are compartments in the cell that digest and recycle different types of molecules. Conditions that cause molecules to build up inside the lysosomes, including MPS I, are called lysosomal storage disorders. The accumulation of GAGs increases the size of the lysosomes, which is why many tissues and organs are enlarged in this disorder. This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.[MedlinePlus Condition: mucopolysaccharidosis-type-i]
Source: Genetic Home Reference, National Library of Medicine
Fully-Specified Name
- Component
- Mucopolysaccharidosis type I
- Property
- Imp
- Time
- Pt
- System
- Bld.dot
- Scale
- Nom
- Method
Additional Names
- Short Name
- MPS I DBS-Imp
- Display Name
- Mucopolysaccharidosis type I (DBS) [Interp]
- Consumer Name Alpha Get Info
- Mucopolysaccharidosis Type I, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.54
- Last Updated
- Version 2.54
- Order vs. Observation
- Observation
Preferred Answer List LL840-0
| Answer | Code | Score | Answer ID |
|---|---|---|---|
| In range | LA18592-8 | ||
| Borderline | LA4259-3 | ||
| Indeterminate Copyright http://snomed.info/sct ID:82334004 Indeterminate (qualifier value) | LA11884-6 | ||
| Out of range | LA18593-6 | ||
| Out of range requiring further dried blood spot testing for at least one condition | LA12430-7 | ||
| Out of range requiring immediate referral | LA25817-0 | ||
| Out of range requiring immediate second-tier testing for at least one condition | LA12431-5 | ||
| Out of range requiring deferred follow-up for at least one condition | LA18594-4 | ||
| One or more tests pending | LA16204-2 | ||
| Specimen unsatisfactory for at least one condition | LA16205-9 |
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 62300-9 | Lysosomal storage disorders newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Mucopolisacaridosis tipo I: |
| es-MX | Spanish (Mexico) | Mucopolisacaridosis tipo I: |
| fr-FR | French (France) | Mucopolysaccharidose type 1: |
| it-IT | Italian (Italy) | Mucopolisaccaridosi tipologia 1: Synonyms: Chimica Impressione/interpretazione di studio Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | mucopolysaccharidose type I: Synonyms: MPS soort |
| tr-TR | Turkish (Turkey) | Mukopolisakkaridozis tip I: |
| zh-CN | Chinese (China) | 粘多糖贮积症 I 型: Synonyms: I 型 全血斑点(滤纸); |
Third Party Copyright
This material includes SNOMED Clinical Terms® (SNOMED CT®) which is used by permission of the International Health Terminology Standards Development Organisation (IHTSDO) under license. All rights reserved. SNOMED CT® was originally created by The College of American Pathologists. "SNOMED" and "SNOMED CT" are registered trademarks of the IHTSDO.
This material includes content from the US Edition to SNOMED CT, which is developed and maintained by the U.S. National Library of Medicine and is available to authorized UMLS Metathesaurus Licensees from the UTS Downloads site at https://uts.nlm.nih.gov.
Use of SNOMED CT content is subject to the terms and conditions set forth in the SNOMED CT Affiliate License Agreement. It is the responsibility of those implementing this product to ensure they are appropriately licensed and for more information on the license, including how to register as an Affiliate Licensee, please refer to http://www.snomed.org/snomed-ct/get-snomed-ct or info@snomed.org<mailto:info@snomed.org>. This may incur a fee in SNOMED International non-Member countries.
79565-8 Mucopolysaccharidosis type I newborn screening comment-discussion
Part Descriptions
LP203226-8 Mucopolysaccharidosis type I
Mucopolysaccharidosis type I (MPS I) is a condition that affects many parts of the body. This disorder was once divided into three separate syndromes: Hurler syndrome (MPS I-H), Hurler-Scheie syndrome (MPS I-H/S), and Scheie syndrome (MPS I-S), listed from most to least severe. Because there is so much overlap between each of these three syndromes, MPS I is currently divided into the severe and attenuated types. Mutations in the IDUA gene cause MPS I. The IDUA gene provides instructions for producing an enzyme that is involved in the breakdown of large sugar molecules called glycosaminoglycans (GAGs). GAGs were originally called mucopolysaccharides, which is where this condition gets its name. Mutations in the IDUA gene reduce or completely eliminate the function of the IDUA enzyme. The lack of IDUA enzyme activity leads to the accumulation of GAGs within cells, specifically inside the lysosomes. Lysosomes are compartments in the cell that digest and recycle different types of molecules. Conditions that cause molecules to build up inside the lysosomes, including MPS I, are called lysosomal storage disorders. The accumulation of GAGs increases the size of the lysosomes, which is why many tissues and organs are enlarged in this disorder. This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.[MedlinePlus Condition: mucopolysaccharidosis-type-i]
Source: Genetic Home Reference, National Library of Medicine
Fully-Specified Name
- Component
- Mucopolysaccharidosis type I newborn screening comment-discussion
- Property
- Txt
- Time
- Pt
- System
- Bld.dot
- Scale
- Nar
- Method
Additional Names
- Short Name
- MPS I NBS comment
- Display Name
- Mucopolysaccharidosis type I newborn screening comment-discussion Nar (DBS)
- Consumer Name Alpha Get Info
- Mucopolysaccharidosis Type I newborn screening comment-discussion, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.54
- Last Updated
- Version 2.54
- Order vs. Observation
- Observation
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 62300-9 | Lysosomal storage disorders newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Mucopolisacaridosis tipo I screnning de recién nacidos comentario-discusión: |
| es-MX | Spanish (Mexico) | Mucopolisacaridosis tipo I cribado neonatal comentario-discusión: |
| fr-FR | French (France) | Mucopolysaccharidose type 1 dépistage nouveau né commentaire-discussion: |
| it-IT | Italian (Italy) | Mucopolisaccaridosi tipologia 1, screening neonatale, commenti-discussione: Synonyms: Chimica Punto nel tempo (episodio) Sangue Spot sangue secco Testo |
| nl-NL | Dutch (Netherlands) | mucopolysaccharidose type I screening van pasgeborene commentaar-discussie: Synonyms: MPS soort |
| tr-TR | Turkish (Turkey) | Mukopolisakkaridozis tip I yenidoğan tarama öneri-tartışma: |
| zh-CN | Chinese (China) | 粘多糖贮积症 I 型 新生儿筛查注释-讨论: Synonyms: Asympt I 型 SCN 全血斑点(滤纸); |
62315-7 Niemann Pick disease A/B newborn screening panel
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Niemann Pick disease A+B newborn screening panel
- Property
- -
- Time
- Pt
- System
- Bld.dot
- Scale
- -
- Method
Additional Names
- Short Name
- Niemann Pick disease A/B NBS pnl DBS
- Display Name
- Niemann Pick disease A/B NBS panel (DBS)
- Consumer Name Alpha Get Info
- Niemann Pick Disease A/B NBS Panel, Dried blood spot
Basic Attributes
- Class
- PANEL.CHEM
- Type
- Laboratory
- First Released
- Version 2.34
- Last Updated
- Version 2.77
- Order vs. Observation
- Order
- Panel Type
- Panel
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 62300-9 | Lysosomal storage disorders newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Cribado de enfermedad de Niemann Pick A+B en recién nacido: |
| es-MX | Spanish (Mexico) | Panel de cribado neonatal de enfermedad de Niemann Pick A + B: |
| fr-FR | French (France) | Maladie de Niemann Pick A+B dépistage néonatal panel: |
| it-IT | Italian (Italy) | Malattia di Niemann Pick A+B, panel screening neonatale: Synonyms: Chimica Malattia di Niemann Pick A/B Panel screening neonatale Panel screening neonatale per malattia di Niemann Punto nel tempo (episodio) Sangue Set di prescrizione chimica Spot sangue secco |
| nl-NL | Dutch (Netherlands) | ziekte van Niemann Pick A+B pasgeborene screening panel: |
| pt-BR | Portuguese (Brazil) | Doença de Niemann Pick A+B painel de triagem neonatal: |
| ru-RU | Russian (Russian Federation) | Ниманн-Пик болезнь A+B новорождённый скрининг панель: Synonyms: Кровь Кровь сухая капля Точка во времени; |
| zh-CN | Chinese (China) | 尼曼-匹克病 A+B 新生儿筛查组套: Synonyms: A 型 A,B 型; |
62318-1 Niemann Pick disease A/B newborn screen interpretation
Observation Required in Panel
Required
Fully-Specified Name
- Component
- Niemann Pick disease A+B
- Property
- Imp
- Time
- Pt
- System
- Bld.dot
- Scale
- Nom
- Method
Additional Names
- Short Name
- Niemann Pick disease A/B DBS-Imp
- Display Name
- Niemann Pick disease A/B (DBS) [Interp]
- Consumer Name Alpha Get Info
- Niemann pick disease a/B, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.34
- Last Updated
- Version 2.56
- Change Reason
- Changed answer list from "Normative" to "Preferred" to fit the current LOINC model.
- Order vs. Observation
- Observation
Preferred Answer List LL840-0
| Answer | Code | Score | Answer ID |
|---|---|---|---|
| In range | LA18592-8 | ||
| Borderline | LA4259-3 | ||
| Indeterminate Copyright http://snomed.info/sct ID:82334004 Indeterminate (qualifier value) | LA11884-6 | ||
| Out of range | LA18593-6 | ||
| Out of range requiring further dried blood spot testing for at least one condition | LA12430-7 | ||
| Out of range requiring immediate referral | LA25817-0 | ||
| Out of range requiring immediate second-tier testing for at least one condition | LA12431-5 | ||
| Out of range requiring deferred follow-up for at least one condition | LA18594-4 | ||
| One or more tests pending | LA16204-2 | ||
| Specimen unsatisfactory for at least one condition | LA16205-9 |
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 62300-9 | Lysosomal storage disorders newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Enfermedad de Niemann-Pick A+B: |
| es-MX | Spanish (Mexico) | Enfermedad de Niemann Pick A + B: |
| fr-CA | French (Canada) | Maladie de Niemann Pick A+B: |
| fr-FR | French (France) | Maladie de Niemann Pick A+B: |
| fr-BE | French (Belgium) | Maladie de Niemann Pick A+B: |
| it-IT | Italian (Italy) | Malattia di Niemann Pick A+B: Synonyms: Chimica Impressione/interpretazione di studio Malattia di Niemann Pick A/B Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | ziekte van Niemann Pick A+B: |
| ru-RU | Russian (Russian Federation) | Ниманна-Пика болезнь A+B: Synonyms: Впечатление/интерпретация исследования Кровь Кровь сухая капля Номинальный; |
| tr-TR | Turkish (Turkey) | Niemann Pick hastalığı A+B: |
| zh-CN | Chinese (China) | 尼曼-匹克病 A+B: Synonyms: A 型 A,B 型; |
Third Party Copyright
This material includes SNOMED Clinical Terms® (SNOMED CT®) which is used by permission of the International Health Terminology Standards Development Organisation (IHTSDO) under license. All rights reserved. SNOMED CT® was originally created by The College of American Pathologists. "SNOMED" and "SNOMED CT" are registered trademarks of the IHTSDO.
This material includes content from the US Edition to SNOMED CT, which is developed and maintained by the U.S. National Library of Medicine and is available to authorized UMLS Metathesaurus Licensees from the UTS Downloads site at https://uts.nlm.nih.gov.
Use of SNOMED CT content is subject to the terms and conditions set forth in the SNOMED CT Affiliate License Agreement. It is the responsibility of those implementing this product to ensure they are appropriately licensed and for more information on the license, including how to register as an Affiliate Licensee, please refer to http://www.snomed.org/snomed-ct/get-snomed-ct or info@snomed.org<mailto:info@snomed.org>. This may incur a fee in SNOMED International non-Member countries.
62319-9 Niemann Pick disease A/B newborn screening comment-discussion
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Niemann Pick disease A+B newborn screening comment-discussion
- Property
- Txt
- Time
- Pt
- System
- Bld.dot
- Scale
- Nar
- Method
Additional Names
- Short Name
- Niemann Pick disease A/B NBS comment
- Display Name
- Niemann Pick disease A/B newborn screening comment-discussion Nar (DBS)
- Consumer Name Alpha Get Info
- Niemann pick disease a/B newborn screening comment-discussion, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.34
- Last Updated
- Version 2.42
- Order vs. Observation
- Observation
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 62300-9 | Lysosomal storage disorders newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Enfermedad de Niemann-Pick A+B screnning de recién nacidos comentario-discusión: |
| es-MX | Spanish (Mexico) | Discusión de comentario sobre detección neonatal A + B de enfermedad de Niemann Pick: |
| fr-FR | French (France) | Maladie de Niemann Pick A+B dépistage néonatal (commentaire-discussion): |
| fr-BE | French (Belgium) | Maladie de Niemann Pick A+B Commentaires.screening néonatal.discussion: |
| it-IT | Italian (Italy) | Malattia di Niemann Pick A+B, screening neonatale, commenti-discussione: Synonyms: Chimica Commento-discussione di screening neonatale per malattia di Niemann Pick A/B Malattia di Niemann Pick A/B Punto nel tempo (episodio) Sangue Spot sangue secco Testo |
| nl-NL | Dutch (Netherlands) | ziekte van Niemann Pick A+B screening van pasgeborene commentaar-discussie: |
| ru-RU | Russian (Russian Federation) | Ниманна-Пика болезнь A+B новорожденный скрининг комментарий-дискуссия: Synonyms: Кровь Кровь сухая капля Описательный Текст Точка во времени; |
| tr-TR | Turkish (Turkey) | Niemann Pick hastalığı A+B yenidoğan tarama öneri-tartışma: |
| zh-CN | Chinese (China) | 尼曼-匹克病 A+B 新生儿筛查注释-讨论: Synonyms: A 型 A,B 型; |
62316-5 Acid sphingomyelinase [Enzymatic activity/volume] in DBS
Part Descriptions
LP14035-7 Acid sphingomyelinase
Sphingomyelin phosphodiesterase or simply Sphingomyelinase (SMase) is a hydrolase enzyme that is involved in sphingolipid metabolism reactions. SMase is a member of the DNase I superfamily of enzymes and is responsible for breaking sphingomyelin (SM) down into phosphocholine and ceramide. The activation of SMase has been suggested as a major route for the production of ceramide in response to cellular stresses.
Copyright Text is available under the Creative Commons Attribution/Share-Alike License. See http://creativecommons.org/licenses/by-sa/3.0/ for details.
Source: Wikipedia, Wikipedia
Reference Information
| Type | Source | Reference |
|---|---|---|
| Article | National Library of Medicine | Wang RY, Bodamer OA, Watson MS, Wilcox WR; ACMG Work Group on Diagnostic Confirmation of Lysosomal Storage Diseases. Lysosomal storage diseases: diagnostic confirmation and management of presymptomatic individuals. Genet Med. 2011 May;13(5):457-84. [PMID: 21502868] Genet Med |
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Acid sphingomyelinase
- Property
- CCnc
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- Acid sphingomyelinase DBS-cCnc
- Display Name
- Acid sphingomyelinase (DBS) [Catalytic activity/Vol]
- Consumer Name Alpha Get Info
- Acid sphingomyelinase, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.34
- Last Updated
- Version 2.61
- Order vs. Observation
- Both
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 105458-4 | Lysosomal and peroxisomal storage disorders panel - DBS |
| 62300-9 | Lysosomal storage disorders newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| de-AT | German (Austria) | Synonyms: Sphingomyelinase /BT |
| es-ES | Spanish (Spain) | Esfingomielinasa ácida: Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Esfingomielinasa ácida: |
| et-EE | Estonian (Estonia) | Sfingomüelinaas: Synonyms: Juhuslik Kvantitatiivne Veri |
| fr-CA | French (Canada) | Acide sphingomyélinase: |
| fr-FR | French (France) | Sphingomyélinase acide: |
| fr-BE | French (Belgium) | Sphingomyélinase acide: |
| it-IT | Italian (Italy) | Sfingomielinasi acida: Synonyms: Chimica Concentrazione Catalitica Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | zure sfingomyelinase: |
| pt-BR | Portuguese (Brazil) | Ácido esfingomielinase: |
| ru-RU | Russian (Russian Federation) | Кислая сфингомиелиназа: Synonyms: Каталитическая концентрация Количественный Кровь Кровь сухая капля Точка во времени; |
| tr-TR | Turkish (Turkey) | Asit sfingomiyelinaz: |
| zh-CN | Chinese (China) | 神经磷脂酶: Synonyms: A 型和 B 型 Niemann-Pick 病; |
Example Units
| Unit | Source |
|---|---|
| umol/L/h | Example UCUM Units |
63414-7 Pompe disease newborn screening panel
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Pompe disease newborn screening panel
- Property
- -
- Time
- Pt
- System
- Bld.dot
- Scale
- -
- Method
Additional Names
- Short Name
- Pompe disease NBS pnl DBS
- Display Name
- Pompe disease NBS panel (DBS)
- Consumer Name Alpha Get Info
- Pompe Disease NBS Panel, Dried blood spot
Basic Attributes
- Class
- PANEL.CHEM
- Type
- Laboratory
- First Released
- Version 2.36
- Last Updated
- Version 2.77
- Order vs. Observation
- Order
- Panel Type
- Panel
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 62300-9 | Lysosomal storage disorders newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Panel screening de la enfermedad de Pompe en recien nacidos: |
| es-MX | Spanish (Mexico) | Panel de cribado neonatal de la enfermedad de Pompe: |
| fr-FR | French (France) | Maladie de Pompe dépistage néonatal panel: |
| it-IT | Italian (Italy) | Morbo di Pompe, panel screening neonatale: Synonyms: Chimica Panel screening neonatale Panel screening neonatale per morbo di Pompe Punto nel tempo (episodio) Sangue Set di prescrizione chimica Spot sangue secco |
| nl-NL | Dutch (Netherlands) | ziekte van Pompe pasgeborene screening panel: |
| ru-RU | Russian (Russian Federation) | Помпе болезнь новорожденных скрининг панель: Synonyms: Кровь Кровь сухая капля Точка во времени; |
| zh-CN | Chinese (China) | 庞贝病新生儿筛查组套: Synonyms: Ⅱ型糖原累积病; |
63415-4 Pompe disease newborn screen interpretation
Observation Required in Panel
Required
Fully-Specified Name
- Component
- Pompe disease
- Property
- Imp
- Time
- Pt
- System
- Bld.dot
- Scale
- Nom
- Method
Additional Names
- Short Name
- Pompe disease DBS-Imp
- Display Name
- Pompe disease (DBS) [Interp]
- Consumer Name Alpha Get Info
- Pompe disease, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.36
- Last Updated
- Version 2.56
- Change Reason
- Changed answer list from "Normative" to "Preferred" to fit the current LOINC model.
- Order vs. Observation
- Observation
Preferred Answer List LL840-0
| Answer | Code | Score | Answer ID |
|---|---|---|---|
| In range | LA18592-8 | ||
| Borderline | LA4259-3 | ||
| Indeterminate Copyright http://snomed.info/sct ID:82334004 Indeterminate (qualifier value) | LA11884-6 | ||
| Out of range | LA18593-6 | ||
| Out of range requiring further dried blood spot testing for at least one condition | LA12430-7 | ||
| Out of range requiring immediate referral | LA25817-0 | ||
| Out of range requiring immediate second-tier testing for at least one condition | LA12431-5 | ||
| Out of range requiring deferred follow-up for at least one condition | LA18594-4 | ||
| One or more tests pending | LA16204-2 | ||
| Specimen unsatisfactory for at least one condition | LA16205-9 |
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 62300-9 | Lysosomal storage disorders newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Enfermedad de Pompe: |
| es-MX | Spanish (Mexico) | Enfermedad de Pompe: |
| fr-FR | French (France) | Maladie de Pompe: |
| it-IT | Italian (Italy) | Morbo di Pompe: Synonyms: Chimica Impressione/interpretazione di studio Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | ziekte van Pompe: |
| ru-RU | Russian (Russian Federation) | Помпе болезнь: Synonyms: Впечатление/интерпретация исследования Кровь Кровь сухая капля Номинальный; |
| tr-TR | Turkish (Turkey) | Pompe hastalığı: |
| zh-CN | Chinese (China) | 庞贝病: Synonyms: Ⅱ型糖原累积病; |
Third Party Copyright
This material includes SNOMED Clinical Terms® (SNOMED CT®) which is used by permission of the International Health Terminology Standards Development Organisation (IHTSDO) under license. All rights reserved. SNOMED CT® was originally created by The College of American Pathologists. "SNOMED" and "SNOMED CT" are registered trademarks of the IHTSDO.
This material includes content from the US Edition to SNOMED CT, which is developed and maintained by the U.S. National Library of Medicine and is available to authorized UMLS Metathesaurus Licensees from the UTS Downloads site at https://uts.nlm.nih.gov.
Use of SNOMED CT content is subject to the terms and conditions set forth in the SNOMED CT Affiliate License Agreement. It is the responsibility of those implementing this product to ensure they are appropriately licensed and for more information on the license, including how to register as an Affiliate Licensee, please refer to http://www.snomed.org/snomed-ct/get-snomed-ct or info@snomed.org<mailto:info@snomed.org>. This may incur a fee in SNOMED International non-Member countries.
63416-2 Pompe disease newborn screening comment-discussion
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Pompe disease newborn screening comment-discussion
- Property
- Txt
- Time
- Pt
- System
- Bld.dot
- Scale
- Nar
- Method
Additional Names
- Short Name
- Pompe disease NBS comment
- Display Name
- Pompe disease newborn screening comment-discussion Nar (DBS)
- Consumer Name Alpha Get Info
- Pompe disease newborn screening comment-discussion, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.36
- Last Updated
- Version 2.42
- Order vs. Observation
- Observation
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 62300-9 | Lysosomal storage disorders newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Enfermedad de Pompe screnning de recién nacidos comentario-discusión: |
| es-MX | Spanish (Mexico) | Comentario-discusión del cribado neonatal de la enfermedad de Pompe: |
| fr-FR | French (France) | Maladie de Pompe dépistage néonatal (commentaire-discussion): |
| it-IT | Italian (Italy) | Morbo di Pompe, screening neonatale, commenti-discussione: Synonyms: Chimica Commento-discussione di screening neonatale per morbo di Pompe Punto nel tempo (episodio) Sangue Spot sangue secco Testo |
| nl-NL | Dutch (Netherlands) | ziekte van Pompe screening van pasgeborene commentaar-discussie: |
| ru-RU | Russian (Russian Federation) | Помпе болезнь новорожденный скрининг комментарий-дискуссия: Synonyms: Кровь Кровь сухая капля Описательный Текст Точка во времени; |
| tr-TR | Turkish (Turkey) | Pompe hastalığı yenidoğan tarama öneri-tartışma: |
| zh-CN | Chinese (China) | 庞贝病 新生儿筛查注释-讨论: Synonyms: Ⅱ型糖原累积病; |
55827-0 Acid alpha glucosidase [Enzymatic activity/volume] in DBS
Term Description
This is a newborn screening test to detect enzymatic activity in dried blood spot to screen for Pompe disease, which is an inherited disorder caused by the buildup of a complex sugar called glycogen in the body's cells. The accumulation of glycogen in certain organs and tissues, especially in muscles, impairs their ability to function normally. Major features of Pompe disease include muscle weakness, heart abnormalities, and breathing problems. This disorder is caused by mutations in the GAA gene; it has an autosomal recessive pattern of inheritance.
Source: Regenstrief LOINC
Part Descriptions
LP14013-4 Acid alpha glucosidase
Alpha (A) glucosidase is an enzyme found in tissue fibroblasts that is useful for delineatig the reason for muscle wasting and ruling out Pompe's disease.
Source: Regenstrief Institute
Reference Information
| Type | Source | Reference |
|---|---|---|
| Article | National Library of Medicine | Wang RY, Bodamer OA, Watson MS, Wilcox WR; ACMG Work Group on Diagnostic Confirmation of Lysosomal Storage Diseases. Lysosomal storage diseases: diagnostic confirmation and management of presymptomatic individuals. Genet Med. 2011 May;13(5):457-84. [PMID: 21502868] Genet Med |
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Acid alpha glucosidase
- Property
- CCnc
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- Acid A-Glucosidase DBS-cCnc
- Display Name
- Acid alpha glucosidase (DBS) [Catalytic activity/Vol]
- Consumer Name Alpha Get Info
- Acid alpha glucosidase, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.29
- Last Updated
- Version 2.70
- Order vs. Observation
- Both
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 105458-4 | Lysosomal and peroxisomal storage disorders panel - DBS |
| 62300-9 | Lysosomal storage disorders newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| de-AT | German (Austria) | Synonyms: Alpha-Glucosidase /BT |
| es-ES | Spanish (Spain) | Alfa glucoxidasa: Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Alfa glucosidasa ácida: |
| et-EE | Estonian (Estonia) | Alfaglükosidaas: Synonyms: Juhuslik Kvantitatiivne Veri |
| fr-CA | French (Canada) | Alpha-glucosidase acide: |
| fr-FR | French (France) | Alpha glucosidase acide: |
| fr-BE | French (Belgium) | Alpha glucosidase acide: |
| it-IT | Italian (Italy) | Acido alfa glucosidasi: Synonyms: Chimica Concentrazione Catalitica Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | zure alfa-glucosidase: |
| pl-PL | Polish (Poland) | Kwaśna alfa-glukozydaza: Synonyms: Glukozydaza Kwaśna alfa-glukozydaza |
| pt-BR | Portuguese (Brazil) | Alfa glucosidase: Synonyms: Glucoinvertase; |
| ru-RU | Russian (Russian Federation) | Кислая альфа глюкозидаза: Synonyms: Каталитическая концентрация Количественный Кровь Кровь сухая капля Точка во времени; |
| tr-TR | Turkish (Turkey) | Asit alfa glukozidaz: |
| zh-CN | Chinese (China) | Alpha 葡糖苷酶: Synonyms: Alpha 葡萄糖苷酶; |
Example Units
| Unit | Source |
|---|---|
| umol/L/h | Example UCUM Units |
62333-0 Severe combined immunodeficiency (SCID) newborn screening panel
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Severe combined immunodeficiency (SCID) newborn screening panel
- Property
- -
- Time
- Pt
- System
- Bld.dot
- Scale
- -
- Method
Additional Names
- Short Name
- SCID NBS pnl DBS
- Display Name
- Severe combined immunodeficiency (SCID) NBS panel (DBS)
- Consumer Name Alpha Get Info
- Severe Combined Immunodeficiency (SCID) NBS Panel, Dried blood spot
Basic Attributes
- Class
- PANEL.CHEM
- Type
- Laboratory
- First Released
- Version 2.34
- Last Updated
- Version 2.77
- Order vs. Observation
- Order
- Common Test Rank Get Info
- 2081
- Panel Type
- Panel
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Cribado de Inmunodeficiencia combinada severa (SCID) en recién nacido: |
| es-MX | Spanish (Mexico) | Panel de cribado neonatal de inmunodeficiencia combinada grave (SCID): |
| fr-FR | French (France) | Immunodéficience sévère associée dépistage néonatal panel: |
| it-IT | Italian (Italy) | Immunodeficienza combinata grave (SCID), panel screening neonatale: Synonyms: Chimica Panel screening neonatale Panel screening neonatale per immunodeficienza com Punto nel tempo (episodio) Sangue Set di prescrizione chimica Spot sangue secco |
| nl-NL | Dutch (Netherlands) | ernstige gecombineerde immunodeficiëntie (SCID) pasgeborene screening panel: Synonyms: ernstige gecombineerde immunodeficientie ernstige gecombineerde immunodeficientie (SCID) pasgeborene screening panel |
| ru-RU | Russian (Russian Federation) | Тяжелый комбинированный иммунодефицит (ТКИД) новорождённых скрининга панель: Synonyms: Кровь Кровь сухая капля Точка во времени; |
| zh-CN | Chinese (China) | 严重联合免疫缺陷 (SCID) 新生儿筛查组套: Synonyms: Asympt SCN 严重联合免疫缺陷 (SCID) 新生儿（NB）筛查（筛选、 |
62321-5 Severe combined immunodeficiency newborn screen interpretation
Part Descriptions
LP111254-1 Severe combined immunodeficiency
Severe combined immunodeficiency (SCID), or Bubble Boy Syndrome, (also known as "Alymphocytosis," "Glanzmann-Riniker syndrome," "Severe mixed immunodeficiency syndrome," and "Thymic alymphoplasia" is a genetic disorder in which both "arms" (B cells and T cells) of the adaptive immune system are crippled, due to a defect in one of several possible genes. SCID is a severe form of heritable immunodeficiency. It is also known as the "bubble boy" disease because its victims are extremely vulnerable to infectious diseases and some of them, such as David Vetter, become famous for living in a sterile environment. SCID is the effect of a highly compromised, so much it is almost considered absent, immune system. The gene mutations that cause SCID are not just for the disorder. The buildup of dATP, which induces the cell to make cytochrome c, destroys and signals for apoptosis in all rapidly proliferating cells. This includes cells in the GI tract, immune system lymphocytes, and sperm cells.
Chronic diarrhoea, ear infections, recurrent Pneumocystis jirovecii pneumonia, and profuse oral candidiasis commonly occur. These babies, if untreated, usually die within 1 year due to severe, recurrent infections unless they have undergone successful Hematopoietic stem cell transplantation.
Copyright Text is available under the Creative Commons Attribution/Share-Alike License. See http://creativecommons.org/licenses/by-sa/3.0/ for details.
Source: Wikipedia, Wikipedia
Observation Required in Panel
Required
Fully-Specified Name
- Component
- Severe combined immunodeficiency
- Property
- Imp
- Time
- Pt
- System
- Bld.dot
- Scale
- Nom
- Method
Additional Names
- Short Name
- SCID DBS-Imp
- Display Name
- Severe combined immunodeficiency (DBS) [Interp]
- Consumer Name Alpha Get Info
- Severe combined immunodeficiency, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.34
- Last Updated
- Version 2.73
- Change Reason
- Changed answer list from "Normative" to"Preferred" to fit the current LOINC model.
- Order vs. Observation
- Observation
- Common Test Rank Get Info
- 14230
Preferred Answer List LL840-0
| Answer | Code | Score | Answer ID |
|---|---|---|---|
| In range | LA18592-8 | ||
| Borderline | LA4259-3 | ||
| Indeterminate Copyright http://snomed.info/sct ID:82334004 Indeterminate (qualifier value) | LA11884-6 | ||
| Out of range | LA18593-6 | ||
| Out of range requiring further dried blood spot testing for at least one condition | LA12430-7 | ||
| Out of range requiring immediate referral | LA25817-0 | ||
| Out of range requiring immediate second-tier testing for at least one condition | LA12431-5 | ||
| Out of range requiring deferred follow-up for at least one condition | LA18594-4 | ||
| One or more tests pending | LA16204-2 | ||
| Specimen unsatisfactory for at least one condition | LA16205-9 |
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
| 62333-0 | Severe combined immunodeficiency (SCID) newborn screening panel |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Inmunodeficiencia combinada severa: |
| es-MX | Spanish (Mexico) | Inmunodeficiencia combinada grave: |
| fr-FR | French (France) | Immunodéficience sévère associée: |
| fr-BE | French (Belgium) | Immunodéficience combinée sévère: |
| it-IT | Italian (Italy) | Immunodeficienza combinata grave: Synonyms: Chimica Impressione/interpretazione di studio Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | ernstige gecombineerde immunodeficiëntie: Synonyms: ernstige gecombineerde immunodeficientie |
| ru-RU | Russian (Russian Federation) | Тяжелый комбинированный иммунодефицит: Synonyms: Впечатление/интерпретация исследования Кровь Кровь сухая капля Номинальный; |
| tr-TR | Turkish (Turkey) | Ciddi kombine immun bozukluk: |
| zh-CN | Chinese (China) | 严重联合免疫缺陷: Synonyms: 严重联合免疫缺陷病; |
Third Party Copyright
This material includes SNOMED Clinical Terms® (SNOMED CT®) which is used by permission of the International Health Terminology Standards Development Organisation (IHTSDO) under license. All rights reserved. SNOMED CT® was originally created by The College of American Pathologists. "SNOMED" and "SNOMED CT" are registered trademarks of the IHTSDO.
This material includes content from the US Edition to SNOMED CT, which is developed and maintained by the U.S. National Library of Medicine and is available to authorized UMLS Metathesaurus Licensees from the UTS Downloads site at https://uts.nlm.nih.gov.
Use of SNOMED CT content is subject to the terms and conditions set forth in the SNOMED CT Affiliate License Agreement. It is the responsibility of those implementing this product to ensure they are appropriately licensed and for more information on the license, including how to register as an Affiliate Licensee, please refer to http://www.snomed.org/snomed-ct/get-snomed-ct or info@snomed.org<mailto:info@snomed.org>. This may incur a fee in SNOMED International non-Member countries.
62322-3 Severe combined immunodeficiency newborn screening comment-discussion
Part Descriptions
LP111254-1 Severe combined immunodeficiency
Severe combined immunodeficiency (SCID), or Bubble Boy Syndrome, (also known as "Alymphocytosis," "Glanzmann-Riniker syndrome," "Severe mixed immunodeficiency syndrome," and "Thymic alymphoplasia" is a genetic disorder in which both "arms" (B cells and T cells) of the adaptive immune system are crippled, due to a defect in one of several possible genes. SCID is a severe form of heritable immunodeficiency. It is also known as the "bubble boy" disease because its victims are extremely vulnerable to infectious diseases and some of them, such as David Vetter, become famous for living in a sterile environment. SCID is the effect of a highly compromised, so much it is almost considered absent, immune system. The gene mutations that cause SCID are not just for the disorder. The buildup of dATP, which induces the cell to make cytochrome c, destroys and signals for apoptosis in all rapidly proliferating cells. This includes cells in the GI tract, immune system lymphocytes, and sperm cells.
Chronic diarrhoea, ear infections, recurrent Pneumocystis jirovecii pneumonia, and profuse oral candidiasis commonly occur. These babies, if untreated, usually die within 1 year due to severe, recurrent infections unless they have undergone successful Hematopoietic stem cell transplantation.
Copyright Text is available under the Creative Commons Attribution/Share-Alike License. See http://creativecommons.org/licenses/by-sa/3.0/ for details.
Source: Wikipedia, Wikipedia
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Severe combined immunodeficiency newborn screening comment-discussion
- Property
- Txt
- Time
- Pt
- System
- Bld.dot
- Scale
- Nar
- Method
Additional Names
- Short Name
- SCID NBS comment
- Display Name
- Severe combined immunodeficiency newborn screening comment-discussion Nar (DBS)
- Consumer Name Alpha Get Info
- Severe combined immunodeficiency newborn screening comment-discussion, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.34
- Last Updated
- Version 2.73
- Order vs. Observation
- Observation
- Common Test Rank Get Info
- 18235
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
| 62333-0 | Severe combined immunodeficiency (SCID) newborn screening panel |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Inmunodeficiencia combinada severa screnning de recién nacidos comentario-discusión: |
| es-MX | Spanish (Mexico) | Comentario-discusión de cribado neonatal de inmunodeficiencia combinada grave: |
| fr-FR | French (France) | Immunodéficience sévère associée dépistage néonatal (commentaire-discusssion): |
| fr-BE | French (Belgium) | Immunodéficience combinée sévère Commentaires.screening néonatal.discussion: |
| it-IT | Italian (Italy) | Immunodeficienza combinata grave, screening neonatale, commenti-discussione: Synonyms: Chimica Commento-discussione di screening neonatale per immunodeficienza combinata grave Punto nel tempo (episodio) Sangue Spot sangue secco Testo |
| nl-NL | Dutch (Netherlands) | ernstige gecombineerde immunodeficiëntie screening van pasgeborene commentaar-discussie: Synonyms: ernstige gecombineerde immunodeficientie |
| ru-RU | Russian (Russian Federation) | Тяжелый комбинированный иммунодефицит новорожденный скрининг комментарий-дискуссия: Synonyms: Кровь Кровь сухая капля Описательный Текст Точка во времени; |
| tr-TR | Turkish (Turkey) | Ciddi kombine immun bozukluk yenidoğan tarama öneri-tartışma: |
| zh-CN | Chinese (China) | 严重联合免疫缺陷 新生儿筛查注释-讨论: Synonyms: Asympt SCN 严重联合免疫缺陷新生儿筛查注释/讨论 严重联合免疫缺陷病; |
62320-7 T-cell receptor excision circle [#/volume] in DBS by NAA with probe detection
Term Description
In newborn screening laboratories where dried blood spots (DBS) are the only available specimens, the test for T cell receptor excision circles (TREC) has been established as a reliable method in population-based pilot studies. TRECs are circular episomal DNA generated at the rearrangement of T cell antigen-receptor gene segments during maturation of T lymphocytes in the thymus. They are non-replicating byproducts that stay in the recent thymic emigrants in the peripheral blood. As such, they can serve as sensitive markers of T cell production in the newborn infant.
Source: Regenstrief LOINC
Part Descriptions
LP111251-7 T-cell receptor excision circle
T cell receptor excision circles (TRECs) are formed as a byproduct of T cell receptor (TCR) generation in the thymus. Every T cell has a unique TCR, and formation of TCRs involves DNA rearrangement into different combinations of variable, diversity, and joining sequences. As these combinations are created, the remaining fragments of excised DNA form circular structures, or TRECs. The number of TRECs is proportional to T cell production, with low TREC numbers being an indicator of inadequate T cell production. In newborns, dried blood spot TREC analysis is used to screen for severe combined immunodeficiency as well as other disorders associated with low T cell counts, such as DiGeorge syndrome, trisomy 21, CHARGE syndrome, and congenital leukemia. PMID: 25937517
Source: Regenstrief LOINC
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- T-cell receptor excision circle
- Property
- NCnc
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
- Probe.amp.tar
Additional Names
- Short Name
- TREC # DBS NAA+probe
- Display Name
- T-cell receptor excision circle NAA+probe (DBS) [#/Vol]
- Consumer Name Alpha Get Info
- T-cell receptor excision circle, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.34
- Last Updated
- Version 2.73
- Order vs. Observation
- Both
- Common Test Rank Get Info
- 11973
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
| 62333-0 | Severe combined immunodeficiency (SCID) newborn screening panel |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Círculos de escisión del receptor de células T: Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Círculo de escisión del receptor de células T: |
| fr-FR | French (France) | Récepteur cellules T cercle d'excision: |
| it-IT | Italian (Italy) | Linfocita T, circolo di escissione recettore: Synonyms: Chimica Circolo di escissione di recettore di linfocita T Concentrazione Numerica Linfocita T Punto nel tempo (episodio) Sangue Sonda con amplificazione Sonda con amplificazione del target Sonda di DNA Spot sangue secco |
| nl-NL | Dutch (Netherlands) | T-celreceptor excisiecirkel: Synonyms: probe.amp.tar |
| ru-RU | Russian (Russian Federation) | T-клеточного рецептора исключения круг: Synonyms: ДНК проба; |
| tr-TR | Turkish (Turkey) | T-hücresi reseptörü excision circle: |
| zh-CN | Chinese (China) | T-细胞受体重排删除环: Synonyms: T 细胞; |
Example Units
| Unit | Source |
|---|---|
| {copies} | Example UCUM Units |
92006-6 T-cell receptor excision circle [Cycle Threshold #] in DBS
Part Descriptions
LP111251-7 T-cell receptor excision circle
T cell receptor excision circles (TRECs) are formed as a byproduct of T cell receptor (TCR) generation in the thymus. Every T cell has a unique TCR, and formation of TCRs involves DNA rearrangement into different combinations of variable, diversity, and joining sequences. As these combinations are created, the remaining fragments of excised DNA form circular structures, or TRECs. The number of TRECs is proportional to T cell production, with low TREC numbers being an indicator of inadequate T cell production. In newborns, dried blood spot TREC analysis is used to screen for severe combined immunodeficiency as well as other disorders associated with low T cell counts, such as DiGeorge syndrome, trisomy 21, CHARGE syndrome, and congenital leukemia. PMID: 25937517
Source: Regenstrief LOINC
Fully-Specified Name
- Component
- T-cell receptor excision circle
- Property
- ThreshNum
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- TREC ThreshNum DBS Qn
- Display Name
- T-cell receptor excision circle (DBS) [ThreshNum]
- Consumer Name Alpha Get Info
- T-cell receptor excision circle, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.66
- Last Updated
- Version 2.66
- Order vs. Observation
- Observation
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
| 62333-0 | Severe combined immunodeficiency (SCID) newborn screening panel |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-MX | Spanish (Mexico) | Círculo de escisión del receptor de células T: |
| es-ES | Spanish (Spain) | Círculos de escisión del receptor de células T: Synonyms: Cuantitativo |
| fr-FR | French (France) | Récepteur cellules T cercle d'excision: |
| it-IT | Italian (Italy) | Linfocita T, circolo di escissione recettore: Synonyms: Chimica Circolo di escissione di recettore di linfocita T Limite di soglia Linfocita T Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | T-celreceptor excisiecirkel: |
| tr-TR | Turkish (Turkey) | T-hücresi reseptörü excision circle: Synonyms: Eşik Değer |
| zh-CN | Chinese (China) | T-细胞受体重排删除环: Synonyms: T 细胞; |
Example Units
| Unit | Source |
|---|---|
| {Ct_value} | Example UCUM Units |
92007-4 T-cell receptor excision circle [Z-score] in DBS
Part Descriptions
LP111251-7 T-cell receptor excision circle
T cell receptor excision circles (TRECs) are formed as a byproduct of T cell receptor (TCR) generation in the thymus. Every T cell has a unique TCR, and formation of TCRs involves DNA rearrangement into different combinations of variable, diversity, and joining sequences. As these combinations are created, the remaining fragments of excised DNA form circular structures, or TRECs. The number of TRECs is proportional to T cell production, with low TREC numbers being an indicator of inadequate T cell production. In newborns, dried blood spot TREC analysis is used to screen for severe combined immunodeficiency as well as other disorders associated with low T cell counts, such as DiGeorge syndrome, trisomy 21, CHARGE syndrome, and congenital leukemia. PMID: 25937517
Source: Regenstrief LOINC
Fully-Specified Name
- Component
- T-cell receptor excision circle
- Property
- Zscore
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- TREC Z-score DBS
- Display Name
- T-cell receptor excision circle (DBS) [Z-score]
- Consumer Name Alpha Get Info
- T-cell receptor excision circle, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.66
- Last Updated
- Version 2.66
- Order vs. Observation
- Both
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
| 62333-0 | Severe combined immunodeficiency (SCID) newborn screening panel |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-MX | Spanish (Mexico) | Círculo de escisión del receptor de células T: |
| es-ES | Spanish (Spain) | Círculos de escisión del receptor de células T: Synonyms: Cuantitativo |
| fr-FR | French (France) | Récepteur cellules T cercle d'excision: |
| it-IT | Italian (Italy) | Linfocita T, circolo di escissione recettore: Synonyms: Chimica Circolo di escissione di recettore di linfocita T Linfocita T Punto nel tempo (episodio) Sangue Spot sangue secco Z-score |
| nl-NL | Dutch (Netherlands) | T-celreceptor excisiecirkel: |
| ru-RU | Russian (Russian Federation) | T-клеточного рецептора исключения круг: Synonyms: Z-тест Фишера Количественный Кровь Кровь сухая капля Точка во времени; |
| tr-TR | Turkish (Turkey) | T-hücresi reseptörü excision circle: |
| zh-CN | Chinese (China) | T-细胞受体重排删除环: Synonyms: T 细胞; |
Example Units
| Unit | Source |
|---|---|
| {Zscore} | Example UCUM Units |
92008-2 T-cell receptor excision circle [Multiple of the median] in DBS
Part Descriptions
LP111251-7 T-cell receptor excision circle
T cell receptor excision circles (TRECs) are formed as a byproduct of T cell receptor (TCR) generation in the thymus. Every T cell has a unique TCR, and formation of TCRs involves DNA rearrangement into different combinations of variable, diversity, and joining sequences. As these combinations are created, the remaining fragments of excised DNA form circular structures, or TRECs. The number of TRECs is proportional to T cell production, with low TREC numbers being an indicator of inadequate T cell production. In newborns, dried blood spot TREC analysis is used to screen for severe combined immunodeficiency as well as other disorders associated with low T cell counts, such as DiGeorge syndrome, trisomy 21, CHARGE syndrome, and congenital leukemia. PMID: 25937517
Source: Regenstrief LOINC
Fully-Specified Name
- Component
- T-cell receptor excision circle
- Property
- MoM
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- TREC MoM DBS
- Display Name
- T-cell receptor excision circle (DBS) [MoM]
- Consumer Name Alpha Get Info
- T-cell receptor excision circle, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.66
- Last Updated
- Version 2.66
- Order vs. Observation
- Both
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
| 62333-0 | Severe combined immunodeficiency (SCID) newborn screening panel |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-MX | Spanish (Mexico) | Círculo de escisión del receptor de células T: |
| es-ES | Spanish (Spain) | Círculos de escisión del receptor de células T: Synonyms: Cuantitativo |
| fr-FR | French (France) | Récepteur cellules T cercle d'excision: |
| it-IT | Italian (Italy) | Linfocita T, circolo di escissione recettore: Synonyms: Chimica Circolo di escissione di recettore di linfocita T Linfocita T Multipli della mediana Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | T-celreceptor excisiecirkel: Synonyms: MoM |
| ru-RU | Russian (Russian Federation) | T-клеточного рецептора исключения круг: Synonyms: Количественный Кратность по отношению к среднему уровню Кровь Кровь сухая капля Точка во времени; |
| tr-TR | Turkish (Turkey) | T-hücresi reseptörü excision circle: |
| zh-CN | Chinese (China) | T-细胞受体重排删除环: Synonyms: MoM; |
Example Units
| Unit | Source |
|---|---|
| {M.o.M} | Example UCUM Units |
92005-8 Spinal muscular atrophy newborn screening panel
Fully-Specified Name
- Component
- Spinal muscular atrophy newborn screening panel
- Property
- -
- Time
- Pt
- System
- Bld.dot
- Scale
- -
- Method
Additional Names
- Short Name
- SMA NB scn pnl DBS
- Display Name
- Spinal muscular atrophy newborn screening panel (DBS)
- Consumer Name Alpha Get Info
- Spinal muscular atrophy newborn screening panel, Dried blood spot
Basic Attributes
- Class
- PANEL.MOLPATH
- Type
- Laboratory
- First Released
- Version 2.66
- Last Updated
- Version 2.70
- Order vs. Observation
- Order
- Panel Type
- Panel
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Panel de detección de atrofia muscular espinal en recién nacidos: |
| es-MX | Spanish (Mexico) | Panel de detección de recién nacidos de atrofia muscular espinal: |
| fr-FR | French (France) | Atrophie musculaire spinale Dépistage néonatale panel: |
| it-IT | Italian (Italy) | Atrofia muscolare spinale, panel screening neonato: Synonyms: Panel screening neonatale Panel screening neonato di atrofia muscolare spinale Patologia molecolare Punto nel tempo (episodio) Sangue Set di prescrizione patologia molecolare SMA Spot sangue secco |
| zh-CN | Chinese (China) | 脊髓性肌萎缩新生儿筛查组套: Synonyms: Asympt SCN 全血斑点(滤纸); |
92004-1 Spinal muscular atrophy newborn screen interpretation
Fully-Specified Name
- Component
- Spinal muscular atrophy
- Property
- Imp
- Time
- Pt
- System
- Bld.dot
- Scale
- Nom
- Method
Additional Names
- Short Name
- SMA DBS-Imp
- Display Name
- Spinal muscular atrophy (DBS) [Interp]
- Consumer Name Alpha Get Info
- Spinal muscular atrophy, Dried blood spot
Basic Attributes
- Class
- MOLPATH
- Type
- Laboratory
- First Released
- Version 2.66
- Last Updated
- Version 2.66
- Order vs. Observation
- Observation
Preferred Answer List LL840-0
| Answer | Code | Score | Answer ID |
|---|---|---|---|
| In range | LA18592-8 | ||
| Borderline | LA4259-3 | ||
| Indeterminate Copyright http://snomed.info/sct ID:82334004 Indeterminate (qualifier value) | LA11884-6 | ||
| Out of range | LA18593-6 | ||
| Out of range requiring further dried blood spot testing for at least one condition | LA12430-7 | ||
| Out of range requiring immediate referral | LA25817-0 | ||
| Out of range requiring immediate second-tier testing for at least one condition | LA12431-5 | ||
| Out of range requiring deferred follow-up for at least one condition | LA18594-4 | ||
| One or more tests pending | LA16204-2 | ||
| Specimen unsatisfactory for at least one condition | LA16205-9 |
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
| 92005-8 | Spinal muscular atrophy newborn screening panel |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Atrofia muscular en la columna: |
| es-MX | Spanish (Mexico) | Atrofia muscular en la columna: |
| fr-FR | French (France) | Atrophie musculaire spinale: |
| it-IT | Italian (Italy) | Atrofia muscolare spinale: Synonyms: Impressione/interpretazione di studio Patologia molecolare Punto nel tempo (episodio) Sangue SMA Spot sangue secco |
| zh-CN | Chinese (China) | 脊髓性肌萎缩: Synonyms: 全血斑点(滤纸); |
Third Party Copyright
This material includes SNOMED Clinical Terms® (SNOMED CT®) which is used by permission of the International Health Terminology Standards Development Organisation (IHTSDO) under license. All rights reserved. SNOMED CT® was originally created by The College of American Pathologists. "SNOMED" and "SNOMED CT" are registered trademarks of the IHTSDO.
This material includes content from the US Edition to SNOMED CT, which is developed and maintained by the U.S. National Library of Medicine and is available to authorized UMLS Metathesaurus Licensees from the UTS Downloads site at https://uts.nlm.nih.gov.
Use of SNOMED CT content is subject to the terms and conditions set forth in the SNOMED CT Affiliate License Agreement. It is the responsibility of those implementing this product to ensure they are appropriately licensed and for more information on the license, including how to register as an Affiliate Licensee, please refer to http://www.snomed.org/snomed-ct/get-snomed-ct or info@snomed.org<mailto:info@snomed.org>. This may incur a fee in SNOMED International non-Member countries.
92003-3 Spinal muscular atrophy newborn screening comment-discussion
Fully-Specified Name
- Component
- Spinal muscular atrophy newborn screening comment-discussion
- Property
- Txt
- Time
- Pt
- System
- Bld.dot
- Scale
- Nar
- Method
Additional Names
- Short Name
- SMA NBS comment
- Display Name
- Spinal muscular atrophy newborn screening comment-discussion Nar (DBS)
- Consumer Name Alpha Get Info
- Spinal muscular atrophy newborn screening comment-discussion, Dried blood spot
Basic Attributes
- Class
- MOLPATH
- Type
- Laboratory
- First Released
- Version 2.66
- Last Updated
- Version 2.66
- Order vs. Observation
- Observation
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
| 92005-8 | Spinal muscular atrophy newborn screening panel |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-MX | Spanish (Mexico) | Atrofia muscular espinal cribado neonatal comentario-discusión: |
| es-ES | Spanish (Spain) | Atrofia muscular en la columna screnning de recién nacidos comentario-discusión: |
| fr-FR | French (France) | Atrophie musculaire spinale Dépistage néonatale (commentaire-discusssion): |
| it-IT | Italian (Italy) | Atrofia muscolare spinale, screening neonatale, commenti-discussione: Synonyms: Patologia molecolare Punto nel tempo (episodio) Sangue SMA Spot sangue secco Testo |
| zh-CN | Chinese (China) | 脊髓性肌萎缩 新生儿筛查注释-讨论: Synonyms: Asympt SCN 全血斑点(滤纸); |
92002-5 SMN1 gene [Cycle Threshold #] in DBS by NAA with probe detection
Term Description
The number of cycles at which the SNM1 gene was detected using real-time PCR. If the maximum number of cycles is reached without detection of the gene, this indicates the absence of SNM1 and requires follow-up evaluation for spinal muscular atrophy (SMA).
Source: Regenstrief LOINC
Part Descriptions
LP33177-4 SMN1 gene
The SMN1 gene (survival of motor neuron 1, telomeric) [HGNC Gene ID:11117] is located on chromosome 5q13.2. This gene is part of a 500 kb inverted duplication on chromosome 5q13. This duplicated region contains at least four genes and repetitive elements which make it prone to rearrangements and deletions. The repetitiveness and complexity of the sequence have also caused difficulty in determining the organization of this genomic region. The telomeric and centromeric copies of this gene are nearly identical and encode the same protein. However, mutations in this gene, the telomeric copy, are associated with spinal muscular atrophy; mutations in the centromeric copy do not lead to disease. The centromeric copy may be a modifier of disease caused by mutation in the telomeric copy. The critical sequence difference between the two genes is a single nucleotide in exon 7, which is thought to be an exon splice enhancer. Note that the nine exons of both the telomeric and centromeric copies are designated historically as exon 1, 2a, 2b, and 3-8. It is thought that gene conversion events may involve the two genes, leading to varying copy numbers of each gene. The protein encoded by this gene localizes to both the cytoplasm and the nucleus. Within the nucleus, the protein localizes to subnuclear bodies called gems which are found near coiled bodies containing high concentrations of small ribonucleoproteins (snRNPs). This protein forms heteromeric complexes with proteins such as SIP1 and GEMIN4, and also interacts with several proteins known to be involved in the biogenesis of snRNPs, such as hnRNP U protein and the small nucleolar RNA binding protein. Multiple transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jul 2014] [NCBI Gene ID:6606]
Source: National Center for Biotechnology Information (NCBI) Gene
Fully-Specified Name
- Component
- SMN1 gene
- Property
- ThreshNum
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
- Probe.amp.tar
Additional Names
- Short Name
- SMN1 gene Ct DBS Qn NAA+probe
- Display Name
- SMN1 gene NAA+probe (DBS) [ThreshNum]
- Consumer Name Alpha Get Info
- SMN1 gene, Dried blood spot
Basic Attributes
- Class
- MOLPATH
- Type
- Laboratory
- First Released
- Version 2.66
- Last Updated
- Version 2.66
- Order vs. Observation
- Both
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
| 92005-8 | Spinal muscular atrophy newborn screening panel |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-MX | Spanish (Mexico) | Gen SMN1: |
| es-ES | Spanish (Spain) | Gen SMN1: Synonyms: Cuantitativo |
| fr-FR | French (France) | SMN1 gène: |
| it-IT | Italian (Italy) | SMN1, gene: Synonyms: Gene SMN1 Limite di soglia Patologia molecolare Punto nel tempo (episodio) Sangue Sonda con amplificazione Sonda con amplificazione del target Sonda di DNA Spot sangue secco |
| nl-NL | Dutch (Netherlands) | SMN1-gen: Synonyms: probe.amp.tar SMN1 gen |
| tr-TR | Turkish (Turkey) | SMN1 geni: Synonyms: Eşik Değer |
| zh-CN | Chinese (China) | SMN1 基因: Synonyms: BCD541; |
Example Units
| Unit | Source |
|---|---|
| {Ct_value} | Example UCUM Units |
97654-8 SMN2 gene copy number in Blood or Tissue by Molecular genetics method
Term Description
The SMN2 copy number varies from 0 to 3 copies in the population, with about 10-15% of unaffected individuals having no SMN2 gene. The SMN2 copy number does not impact the carrier status but rather influences severity of disease in patients with spinal muscular atrophy (SMA), where the presence of more copies is associated with milder disease. PMID: 21673580
Source: Regenstrief LOINC
Part Descriptions
LP426531-2 SMN2 gene copy number
The SMN2 gene (survival of motor neuron 2, centromeric) [HGNC Gene ID:11118] is located on chromosome 5q13.2. This gene is part of a 500 kb inverted duplication on chromosome 5q13. This duplicated region contains at least four genes and repetitive elements which make it prone to rearrangements and deletions. The repetitiveness and complexity of the sequence have also caused difficulty in determining the organization of this genomic region. The telomeric and centromeric copies of this gene are nearly identical and encode the same protein. While mutations in the telomeric copy are associated with spinal muscular atrophy, mutations in this gene, the centromeric copy, do not lead to disease. This gene may be a modifier of disease caused by mutation in the telomeric copy. The critical sequence difference between the two genes is a single nucleotide in exon 7, which is thought to be an exon splice enhancer. Note that the nine exons of both the telomeric and centromeric copies are designated historically as exon 1, 2a, 2b, and 3-8. It is thought that gene conversion events may involve the two genes, leading to varying copy numbers of each gene. The full length protein encoded by this gene localizes to both the cytoplasm and the nucleus. Within the nucleus, the protein localizes to subnuclear bodies called gems which are found near coiled bodies containing high concentrations of small ribonucleoproteins (snRNPs). This protein forms heteromeric complexes with proteins such as SIP1 and GEMIN4, and also interacts with several proteins known to be involved in the biogenesis of snRNPs, such as hnRNP U protein and the small nucleolar RNA binding protein. Four transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Sep 2008] [NCBI Gene ID:6607]
Source: National Center for Biotechnology Information (NCBI) Gene
Fully-Specified Name
- Component
- SMN2 gene copy number
- Property
- EntNum
- Time
- Pt
- System
- Bld/Tiss
- Scale
- Qn
- Method
- Molgen
Additional Names
- Short Name
- SMN2 copy num EntNum Bld/T
- Display Name
- SMN2 copy num Molgen (Bld/Tiss) [Entitic number]
- Consumer Name Alpha Get Info
- SMN2 copy number, Blood or tissue specimen
Basic Attributes
- Class
- MOLPATH
- Type
- Laboratory
- First Released
- Version 2.70
- Last Updated
- Version 2.72
- Order vs. Observation
- Both
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
| 92005-8 | Spinal muscular atrophy newborn screening panel |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Número de copias del gen SMN2: Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Número de copia del gen SMN2: |
| fr-FR | French (France) | SMN2 gène - Nombre de copie: |
| it-IT | Italian (Italy) | Gene SMN2, numero copia: Synonyms: Gene SMN2 Genetica molecolare Numero copia di gene SMN2 Numero entitico Patologia molecolare Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & |
| nl-NL | Dutch (Netherlands) | aantal kopieën van SMN2-gen: Synonyms: molgen SMN2 gen |
| zh-CN | Chinese (China) | SMN2 基因拷贝数: Synonyms: BCD541; |
Example Units
| Unit | Source |
|---|---|
| {#} | Example UCUM Units |
85267-3 X-linked adrenoleukodystrophy (X-ALD) newborn screening panel
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- X-linked adrenoleukodystrophy (X-ALD) newborn screening panel
- Property
- -
- Time
- Pt
- System
- Bld.dot
- Scale
- -
- Method
Additional Names
- Short Name
- X-ALD NBS Pnl DBS
- Display Name
- X-linked adrenoleukodystrophy (X-ALD) NBS panel (DBS)
- Consumer Name Alpha Get Info
- X-linked Adrenoleukodystrophy (X-ALD) NBS Panel, Dried blood spot
Basic Attributes
- Class
- PANEL.CHEM
- Type
- Laboratory
- First Released
- Version 2.58
- Last Updated
- Version 2.77
- Order vs. Observation
- Order
- Panel Type
- Panel
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Panel de cribado en recién nacidos para adrenoleucodistrofia ligada al crosoma X: |
| es-MX | Spanish (Mexico) | Panel de cribado neonatal de adrenoleucodistrofia ligada al cromosoma X (X-ALD): |
| fr-FR | French (France) | Adrénoleucodystrophie liée à l'X dépistage néonatal panel: |
| it-IT | Italian (Italy) | Adrenoleucodistrofia legata all'X (X-ALD), panel screening neonatale: Synonyms: Chimica Panel screening neonatale Panel screening neonatale per adrenoleucodistrofia Punto nel tempo (episodio) Sangue Set di prescrizione chimica Spot sangue secco |
| zh-CN | Chinese (China) | X连锁肾上腺脑白质营养不良新生儿筛查组套: Synonyms: Asympt SCN X染色体连锁肾上腺脑白质营养不良; |
85269-9 X-linked adrenoleukodystrophy newborn screen interpretation
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- X-linked adrenoleukodystrophy
- Property
- Imp
- Time
- Pt
- System
- Bld.dot
- Scale
- Nom
- Method
Additional Names
- Short Name
- X-ALD DBS-Imp
- Display Name
- X-linked adrenoleukodystrophy (DBS) [Interp]
- Consumer Name Alpha Get Info
- X-linked adrenoleukodystrophy, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.58
- Last Updated
- Version 2.58
- Order vs. Observation
- Observation
Preferred Answer List LL840-0
| Answer | Code | Score | Answer ID |
|---|---|---|---|
| In range | LA18592-8 | ||
| Borderline | LA4259-3 | ||
| Indeterminate Copyright http://snomed.info/sct ID:82334004 Indeterminate (qualifier value) | LA11884-6 | ||
| Out of range | LA18593-6 | ||
| Out of range requiring further dried blood spot testing for at least one condition | LA12430-7 | ||
| Out of range requiring immediate referral | LA25817-0 | ||
| Out of range requiring immediate second-tier testing for at least one condition | LA12431-5 | ||
| Out of range requiring deferred follow-up for at least one condition | LA18594-4 | ||
| One or more tests pending | LA16204-2 | ||
| Specimen unsatisfactory for at least one condition | LA16205-9 |
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
| 85267-3 | X-linked adrenoleukodystrophy (X-ALD) newborn screening panel |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-MX | Spanish (Mexico) | Adrenoleucodistrofia ligada al cromosoma X: |
| es-ES | Spanish (Spain) | Adrenoleucodistrofia ligada al crosoma X: |
| fr-FR | French (France) | Adrénoleucodystrophie liée à l'X: |
| it-IT | Italian (Italy) | Adrenoleucodistrofia legata all'X: Synonyms: Chimica Impressione/interpretazione di studio Punto nel tempo (episodio) Sangue Spot sangue secco |
| zh-CN | Chinese (China) | X连锁肾上腺脑白质营养不良: Synonyms: X染色体连锁肾上腺脑白质营养不良; |
Third Party Copyright
This material includes SNOMED Clinical Terms® (SNOMED CT®) which is used by permission of the International Health Terminology Standards Development Organisation (IHTSDO) under license. All rights reserved. SNOMED CT® was originally created by The College of American Pathologists. "SNOMED" and "SNOMED CT" are registered trademarks of the IHTSDO.
This material includes content from the US Edition to SNOMED CT, which is developed and maintained by the U.S. National Library of Medicine and is available to authorized UMLS Metathesaurus Licensees from the UTS Downloads site at https://uts.nlm.nih.gov.
Use of SNOMED CT content is subject to the terms and conditions set forth in the SNOMED CT Affiliate License Agreement. It is the responsibility of those implementing this product to ensure they are appropriately licensed and for more information on the license, including how to register as an Affiliate Licensee, please refer to http://www.snomed.org/snomed-ct/get-snomed-ct or info@snomed.org<mailto:info@snomed.org>. This may incur a fee in SNOMED International non-Member countries.
85268-1 X-linked adrenoleukodystrophy newborn screening comment-discussion
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- X-linked adrenoleukodystrophy newborn screening comment-discussion
- Property
- Txt
- Time
- Pt
- System
- Bld.dot
- Scale
- Nar
- Method
Additional Names
- Short Name
- X-ALD NBS comment
- Display Name
- X-linked adrenoleukodystrophy newborn screening comment-discussion Nar (DBS)
- Consumer Name Alpha Get Info
- X-linked adrenoleukodystrophy newborn screening comment-discussion, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.58
- Last Updated
- Version 2.58
- Order vs. Observation
- Observation
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
| 85267-3 | X-linked adrenoleukodystrophy (X-ALD) newborn screening panel |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-MX | Spanish (Mexico) | Adrenoleucodistrofia ligada al cromosoma X examen de detección de recién nacidos comentario-discusión: |
| es-ES | Spanish (Spain) | Adrenoleucodistrofia ligada al crosoma X screnning de recién nacidos comentario-discusión: |
| fr-FR | French (France) | Adrénoleucodystrophie liée à l'X dépistage néonatal (commentaire-discusssion): |
| it-IT | Italian (Italy) | Adrenoleucodistrofia legata all'X, screening neonatale, commenti-discussione: Synonyms: Chimica Punto nel tempo (episodio) Sangue Spot sangue secco Testo |
| zh-CN | Chinese (China) | X连锁肾上腺脑白质营养不良 新生儿筛查注释-讨论: Synonyms: Asympt SCN X染色体连锁肾上腺脑白质营养不良; |
79321-6 Lysophosphatidylcholine(26:0) [Moles/volume] in DBS
Part Descriptions
LP200432-5 Lysophosphatidylcholine(26:0)
Lysophosphatidylcholine(26:0), or LysoPC(26:0), is a lysophospholipid (LyP) and diagnostic marker for X-linked adrenoleukodystrophy (X-ALD), peroxisomal biogenesis disorders (PBD) and single enzyme defects (SED) of peroxisomal fatty acid oxidation. PMID: 19423374 For newborn screening, 26:0 lyso-PC is measured in dried blood spots (DBS) for the diagnosis, monitoring and treatment of X-ALD other peroxisomal disorders.
Source: Regenstrief LOINC
Observation Required in Panel
Optional
Fully-Specified Name
- Component
- Lysophosphatidylcholine(26:0)
- Property
- SCnc
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- LysoPC(26:0) DBS-sCnc
- Display Name
- LysoPC(26:0) (DBS) [Moles/Vol]
- Consumer Name Alpha Get Info
- LysoPC(26:0), Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.54
- Last Updated
- Version 2.67
- Order vs. Observation
- Both
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
| 85267-3 | X-linked adrenoleukodystrophy (X-ALD) newborn screening panel |
Member of these Groups Get Info
| LOINC Group | Group Name |
|---|---|
| LG50129-2 | Lysophosphatidylcholine(26: |
| LG30563-7 | Lysophosphatidylcholine(26: |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Lisofosfatidilcolina (26: Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Lisofosfatidilcolina (26: |
| fr-FR | French (France) | Lysophosphatidylcholine(26: |
| it-IT | Italian (Italy) | Lisofosfatidilcolina(26: Synonyms: Chimica Concentrazione di Sostanza Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | lysofosfatidylcholine(26: |
| tr-TR | Turkish (Turkey) | Lizofosfatidilkolin(26: |
| zh-CN | Chinese (China) | 溶血磷脂酰胆碱(26: Synonyms: 克分子浓度; |
Example Units
| Unit | Source |
|---|---|
| umol/L | Example UCUM Units |
57128-1 Newborn Screening Report summary panel
Term Description
This panel includes a LOINC code that could carry a summary report as text , or PDF , the overall interpretation of the report to permit easy searching for abnormal , a list of the conditions suspected based on the marker results as codes - to make it easy for receiving systems to find cases requiring follow up.
Source: Regenstrief LOINC
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Newborn Screening Report summary panel
- Property
- -
- Time
- Pt
- System
- ^Patient
- Scale
- -
- Method
Additional Names
- Short Name
- NBS report summary pnl Patient
- Display Name
- NBS Report summary panel
- Consumer Name Alpha Get Info
- NBS report summary panel
Basic Attributes
- Class
- PANEL.CHEM
- Type
- Laboratory
- First Released
- Version 2.29
- Last Updated
- Version 2.77
- Order vs. Observation
- Order
- Common Test Rank Get Info
- 9088
- Panel Type
- Organizer
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
| 57794-0 | Newborn screening test results panel - DBS |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Resumen de Informe del panel de cribado del recién nacido: |
| es-MX | Spanish (Mexico) | Panel de resumen del informe de detección del recién nacido: |
| fr-BE | French (Belgium) | Rapport screening néonatal.Panel résumé: |
| fr-FR | French (France) | Dépistage néonatal - Résumé du compte rendu panel: |
| it-IT | Italian (Italy) | Screening neonatale, panel riassuntivo di referto: Synonyms: Chimica Panel riassuntivo di referto di screening neonatal paziente Punto nel tempo (episodio) Referto Set di prescrizione chimica |
| nl-NL | Dutch (Netherlands) | pasgeborene screening rapport samenvattend panel: |
| pt-BR | Portuguese (Brazil) | Resumo de relatório da triagem Neonatal painel: Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Новорождённый Скрининг Отчёт краткие сведения панель: Synonyms: Точка во времени; |
| zh-CN | Chinese (China) | 新生儿筛查报告摘要组套: Synonyms: Asympt SCN 化学; |
57721-3 Reason for lab test in Dried blood spot
Term Description
Definitions of answer codes for reason for newborn screen lab test in dried blood spot:
Initial Screen: This answer code is used for the first screen performed on an infant after birth. When the first specimen obtained is of unacceptable quality and cannot be used, a replacement specimen is still considered the initial screen. When an initial screen is performed before 24 hrs because of a planned transfusion or an extremely ill infant, it is still considered the initial screen even though it may need to be repeated later.
Subsequent screen - required by law: This answer code is used for mandatory second screens as required by law and assumes that the first screen was normal and that the second screen was performed only because it was mandated by law. For example, [give name of state(s)] currently performs a second screen on every infant born in the state at a particular point in time, such as between 1 and 2 weeks. The purpose of identifying the reason for a subsequent screen is that it will change the expected time interval when the subsequent screen should be performed.
Subsequent screen - required by protocol: This answer code is used for subsequent screens that are performed because of clinical conditions in the newborn that require a repeat screen as specified by a protocol to assure valid test results. Many of these subsequent screens have abnormal or out-of-range results on the initial screen that can be explained by the clinical condition of the infant. Typical examples include premature infants, infants who receive blood product transfusions, and infants who are receiving intravenous alimentation. This category should not include abnormal tests that should be considered presumptive positives (which would require a diagnostic evaluation rather than a repeat screen by protocol). The purpose of identifying the reason for a subsequent screen is that it will change the expected time interval when the subsequent screen should be performed.
Subsequent screen - for clarification of initial results (not by law or protocol): When the results of the initial screen are abnormal or out of range, many states perform an "immediate" repeat screen to confirm the results before considering the test a presumptive positive that will require a diagnostic evaluation. Many of these results may be considered or reported as equivocal or borderline until a clear abnormality is confirmed on the subsequent screen. This category does not include abnormal or borderline results for which there is a clear clinical explanation, such as prematurity, for which there is a clear protocol for obtaining a second screen. The purpose of identifying the reason for a subsequent screen is that it will change the expected time interval when the subsequent screen should be performed.
Subsequent screen - reason unknown: The purpose of identifying the reason for a subsequent screen is that it will change the expected time interval when the subsequent screen should be performed. States should use this answer code if they are unable to identify the specific reason for a subsequent screen, but they are able to separate initial screens from subsequent screens. The reason for the second screen might be any of the above. A repeat initial screen because the first specimen was of unacceptable quality should not be considered a subsequent screen, but some states may use this code if they are unable to track that the reason for a second specimen was unacceptable quality of the first screen.
No sample collected due to parental refusal: This answer code is used to document parental refusal of newborn screening so that a report can be generated which will contain no test results because no specimen was submitted. This will enable complete matching of newborn screening results to all infants born even if no laboratory testing was performed.
Source: Regenstrief LOINC
Observation Required in Panel
Required
Fully-Specified Name
- Component
- Reason for lab test
- Property
- Type
- Time
- Pt
- System
- Bld.dot
- Scale
- Nom
- Method
Additional Names
- Short Name
- Reason for lab test DBS
- Display Name
- Reason for lab test Nom (DBS)
- Consumer Name Alpha Get Info
- Reason for lab test, Dried blood spot
Basic Attributes
- Class
- MISC
- Type
- Laboratory
- First Released
- Version 2.29
- Last Updated
- Version 2.73
- Order vs. Observation
- Observation
- Common Test Rank Get Info
- 13935
Normative Answer List LL831-9
| Answer | Code | Score | Answer ID |
|---|---|---|---|
| Initial screen | LA12421-6 | ||
| Subsequent screen - required by law | LA12425-7 | ||
| Subsequent screen - required by protocol | LA12426-5 | ||
| Subsequent screen - for clarification of initial results (not by law or protocol) | LA12427-3 | ||
| Subsequent screen - reason unknown | LA16473-3 | ||
| No sample collected due to parental refusal | LA14132-7 |
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
| 57794-0 | Newborn screening test results panel - DBS |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Motivo de la prueba de laboratorio: |
| es-MX | Spanish (Mexico) | Razón de la prueba de laboratorio: |
| fr-CA | French (Canada) | Indication de l'examen de laboratoire: |
| fr-FR | French (France) | Motif du test en laboratoire: |
| fr-BE | French (Belgium) | Justification des tests de labo: |
| it-IT | Italian (Italy) | Motivo di prova di laboratorio: Synonyms: Miscellanea Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | reden voor labtest: |
| pt-BR | Portuguese (Brazil) | Razão para teste de laboratório: Synonyms: Typ; |
| ru-RU | Russian (Russian Federation) | Причина лабораторный тест: Synonyms: Кровь Кровь сухая капля Номинальный; |
| tr-TR | Turkish (Turkey) | Sebep lab testi için: Synonyms: Tür |
| zh-CN | Chinese (China) | 关于实验室检验项目的原因: Synonyms: 全血斑点(滤纸); |
57718-9 Sample quality of Dried blood spot
Observation Required in Panel
Required
Fully-Specified Name
- Component
- Sample condition
- Property
- Type
- Time
- Pt
- System
- Bld.dot
- Scale
- Nom
- Method
Additional Names
- Short Name
- Sample quality of DBS
- Display Name
- Sample condition Nom (DBS)
- Consumer Name Alpha Get Info
- Sample condition, Dried blood spot
Basic Attributes
- Class
- SPEC
- Type
- Laboratory
- First Released
- Version 2.29
- Last Updated
- Version 2.73
- Change Reason
- Changed answer list from "Normative" to "Preferred" to fit the current LOINC model.
- Order vs. Observation
- Observation
- Common Test Rank Get Info
- 18177
Preferred Answer List LL832-7
| Answer | Code | Score | Answer ID |
|---|---|---|---|
| Acceptable | LA12432-3 | ||
| No sample received | LA12433-1 | ||
| Specimen damaged during transport | LA20623-7 | ||
| Specimen received in sealed plastic container | LA20624-5 | ||
| Specimen quantity insufficient due to incomplete saturation (blood did not soak through paper) Copyright http://snomed.info/sct ID:281268007 Insufficient sample (finding) | LA20625-2 | ||
| Specimen quantity insufficient because blood did not completely fill specimen circles Copyright http://snomed.info/sct ID:281268007 Insufficient sample (finding) | LA20626-0 | ||
| Specimen has uneven saturation | LA20627-8 | ||
| Specimen appears scratched or abraded | LA12682-3 | ||
| Specimen not dry before mailing | LA12683-1 | ||
| Specimen appears supersaturated | LA12684-9 | ||
| Specimen appears diluted, discolored or contaminated | LA12685-6 | ||
| Specimen exhibits serum rings | LA12686-4 | ||
| Specimen appears clotted or layered | LA12435-6 | ||
| Specimen not eluting | LA20628-6 | ||
| No blood | LA12687-2 | ||
| Sample too old | LA12441-4 | ||
| Testing of this specimen indicates more than one source of blood is present on the filter paper card | LA20630-2 | ||
| Unsuitable for other reasons | LA20629-4 |
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 74874-9 | Metabolic disorder therapy monitoring panel - DBS |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
| 57794-0 | Newborn screening test results panel - DBS |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-MX | Spanish (Mexico) | Condición de la muestra: |
| es-ES | Spanish (Spain) | Condición de la muestra: |
| fr-FR | French (France) | Échantillon condition: |
| fr-BE | French (Belgium) | Condition échantillon: |
| fr-CA | French (Canada) | Qualité de l'échantillon: |
| it-IT | Italian (Italy) | Campione, condizione: Synonyms: Caratteristiche campione Condizione del campione Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | monsterconditie: |
| pt-BR | Portuguese (Brazil) | Condição da amostra: Synonyms: Typ; |
| ru-RU | Russian (Russian Federation) | Образец состояние: Synonyms: Кровь Кровь сухая капля Номинальный; |
| tr-TR | Turkish (Turkey) | Örnek koşulu: Synonyms: Tür |
| zh-CN | Chinese (China) | 标本状况: Synonyms: 健康状况; |
Third Party Copyright
This material includes SNOMED Clinical Terms® (SNOMED CT®) which is used by permission of the International Health Terminology Standards Development Organisation (IHTSDO) under license. All rights reserved. SNOMED CT® was originally created by The College of American Pathologists. "SNOMED" and "SNOMED CT" are registered trademarks of the IHTSDO.
This material includes content from the US Edition to SNOMED CT, which is developed and maintained by the U.S. National Library of Medicine and is available to authorized UMLS Metathesaurus Licensees from the UTS Downloads site at https://uts.nlm.nih.gov.
Use of SNOMED CT content is subject to the terms and conditions set forth in the SNOMED CT Affiliate License Agreement. It is the responsibility of those implementing this product to ensure they are appropriately licensed and for more information on the license, including how to register as an Affiliate Licensee, please refer to http://www.snomed.org/snomed-ct/get-snomed-ct or info@snomed.org<mailto:info@snomed.org>. This may incur a fee in SNOMED International non-Member countries.
57130-7 Newborn screening report - overall interpretation
Term Description
Reports the summary interpretation of the screening test from a short list of specified codes (to be developed by the NBS community)
Source: Regenstrief LOINC
Condition for Inclusion
If the state reports a summary impression.
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Newborn screening report - overall interpretation
- Property
- Imp
- Time
- Pt
- System
- ^Patient
- Scale
- Nom
- Method
Additional Names
- Short Name
- NBS report - overall interp
- Display Name
- NBS report - overall interpretation [Interp]
- Consumer Name Alpha Get Info
- NBS report - overall interpretation
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.29
- Last Updated
- Version 2.73
- Order vs. Observation
- Observation
- Common Test Rank Get Info
- 1845
Example Answer List LL771-7
| Answer | Code | Score | Answer ID |
|---|---|---|---|
| All screening is in range for the conditions tested | LA12428-1 | ||
| Screen is borderline for at least one condition | LA12429-9 | ||
| Screen is indeterminate for at least one condition | LA18943-3 | ||
| Screen is out of range for at least one condition | LA18944-1 | ||
| Out of range requiring further dried blood spot testing for at least one condition | LA12430-7 | ||
| Out of range requiring immediate referral | LA25817-0 | ||
| Out of range requiring immediate second-tier testing for at least one condition | LA12431-5 | ||
| Out of range requiring deferred follow-up for at least one condition | LA18594-4 | ||
| Screening not done due to parental refusal | LA14133-5 | ||
| One or more tests pending | LA16204-2 | ||
| Specimen unsatisfactory for at least one condition | LA16205-9 |
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
| 57794-0 | Newborn screening test results panel - DBS |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Informe del cribado del recién nacido-interpretación general: |
| es-MX | Spanish (Mexico) | Informe de detección del recién nacido: |
| fr-FR | French (France) | Compte rendu dépistage néonatal - Interprétation: |
| fr-BE | French (Belgium) | Rapport screening néonatal - interprétation générale: |
| it-IT | Italian (Italy) | Screening neonatale, referto - interpretazione generale: Synonyms: Chimica Impressione/interpretazione di studio Interpretazione generale di referto di screening n paziente Punto nel tempo (episodio) Referto |
| nl-NL | Dutch (Netherlands) | pasgeborene screening rapport - overall interpretatie: |
| pt-BR | Portuguese (Brazil) | Relatório de triagem neonatal - interpretação global: Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Новорождённый скрининг отчёт - общая интерпретация: Synonyms: Впечатление/интерпретация исследования Номинальный; |
| tr-TR | Turkish (Turkey) | Yenidoğan tarama raporu - genel yorum: |
| zh-CN | Chinese (China) | 新生儿筛查报告 - 总体解释: Synonyms: Asympt SCN 全面; |
57131-5 Newborn conditions with positive markers [Identifier] in DBS
Term Description
This variable list the conditions that that the markers suggest may be present. It is a coded result intended for easy access by decision support systems to identify the cases that need special attention. The LOINC code will include an answer list that covers all of the conditions screened for by any state. States would only make statements about the conditions they screen for. (This item is still under discussion by the NBS community and subject to change)
Source: Regenstrief LOINC
Observation Required in Panel
Required
Fully-Specified Name
- Component
- Newborn conditions with positive markers
- Property
- Prid
- Time
- Pt
- System
- Bld.dot
- Scale
- Nom
- Method
Additional Names
- Short Name
- NB conditions positive DBS
- Display Name
- Newborn conditions with positive markers Nom (DBS)
- Consumer Name Alpha Get Info
- Newborn conditions with positive markers, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.29
- Last Updated
- Version 2.73
- Change Reason
- Changed answer list from "Normative" to "Preferred" to fit the current LOINC model.
- Order vs. Observation
- Observation
- Common Test Rank Get Info
- 17418
Preferred Answer List LL835-0
| Answer | Code | Score | Answer ID |
|---|---|---|---|
| None Copyright http://snomed.info/sct ID:260413007 None (qualifier value) | LA137-2 | ||
| Hearing loss Copyright http://snomed.info/sct ID:15188001 Hearing loss (disorder) | HEAR | LA24366-9 | |
| 2-Methyl-3-hydroxybutyric aciduria Copyright http://snomed.info/sct ID:791000124107 2-methyl-3-hydroxybutyric aciduria (disorder) | 2M3HBA | LA12464-6 | |
| 2-Methylbutyrylglycinuria Copyright http://snomed.info/sct ID:445596006 2-methylbutyrylglycinuria (disorder) | 2MBG | LA12465-3 | |
| 3-Methylcrotonyl-CoA carboxylase deficiency Copyright http://snomed.info/sct ID:13144005 Methylcrotonyl-coenzyme A carboxylase deficiency (disorder) | 3-MCC | LA12466-1 | |
| 3-Methylcrotonyl-CoA carboxylase deficiency (maternal) Copyright http://snomed.info/sct ID:206001006 Fetal or neonatal effect of maternal problem unrelated to pregnancy (disorder) | 3-MCC (mat) | LA12467-9 | |
| 3-Methylglutaconic aciduria Copyright http://snomed.info/sct ID:237950009 3-Methylglutaconic aciduria (disorder) | 3MGA | LA12468-7 | |
| Pyroglutamic acidemia Copyright http://snomed.info/sct ID:39112005 Glutathione synthase deficiency with 5-oxoprolinuria (disorder) | 5-OXO | LA12469-5 | |
| Argininemia | ARG | LA21161-7 | |
| Argininosuccinic aciduria | ASA | LA21162-5 | |
| Biopterin defect in cofactor biosynthesis Copyright http://snomed.info/sct ID:237914002 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency (disorder) | BIOPT-BS | LA12472-9 | |
| Biopterin defect in cofactor regeneration Copyright http://snomed.info/sct ID:58256000 Dihydropteridine reductase deficiency (disorder) | BIOPT-REG | LA12473-7 | |
| Beta-ketothiolase deficiency Copyright http://snomed.info/sct ID:237953006 Mitochondrial 2-methylacetoacetyl-CoA thiolase deficiency - potassium stimulated (disorder) | BKT | LA12474-5 | |
| Carnitine acylcarnitine translocase deficiency Copyright http://snomed.info/sct ID:238003000 Carnitine acylcarnitine translocase deficiency (disorder) | CACT | LA12475-2 | |
| Cobalamin A disease Copyright http://snomed.info/sct ID:73843004 Cobalamin A disease (disorder) | CBL A | LA12476-0 | |
| Cobalamin B disease Copyright http://snomed.info/sct ID:82245003 Cobalamin B disease (disorder) | CBL B | LA12477-8 | |
| Cobalamin C disease Copyright http://snomed.info/sct ID:74653006 Cobalamin C disease (disorder) | CBL C | LA12478-6 | |
| Cobalamin D disease Copyright http://snomed.info/sct ID:31220004 Cobalamin D disease (disorder) | CBL D | LA12479-4 | |
| Cobalamin E disease Copyright http://snomed.info/sct ID:360373000 Homocystinuria vitamin B12-responsive type III (disorder) | CBL E | LA12480-2 | |
| CBL G type Methylcobalamin deficiency Copyright http://snomed.info/sct ID:721187005 Methylcobalamin deficiency type cbl G (disorder) | CBL G | LA12481-0 | |
| Citrullinemia, type I Copyright http://snomed.info/sct ID:398680004 Citrullinemia (disorder) | CIT-I | LA12482-8 | |
| Citrullinemia, type II Copyright http://snomed.info/sct ID:716863007 Citrullinemia type II (disorder) | CIT-II | LA12483-6 | |
| Carbamoyl-phosphate synthase deficiency Copyright http://snomed.info/sct ID:62522004 Congenital hyperammonemia, type I (disorder) | CPS | LA12484-4 | |
| Carnitine palmitoyltransferase type I deficiency Copyright http://snomed.info/sct ID:238001003 Carnitine palmitoyltransferase I deficiency (disorder) | CPT-Ia | LA12485-1 | |
| Carnitine palmitoyltransferase type II deficiency Copyright http://snomed.info/sct ID:238002005 Carnitine palmitoyltransferase II deficiency (disorder) | CPT-II | LA12486-9 | |
| Carnitine uptake deficiency/carnitine transport defect Copyright http://snomed.info/sct ID:21764004 Renal carnitine transport defect (disorder) | CUD | LA12487-7 | |
| Carnitine uptake deficiency/carnitine transport defect (maternal) Copyright http://snomed.info/sct ID:206001006 Fetal or neonatal effect of maternal problem unrelated to pregnancy (disorder) | CUD (mat) | LA12488-5 | |
| 2,4-Dienoyl-CoA reductase deficiency Copyright http://snomed.info/sct ID:444944006 Deficiency of 2,4-dienoyl-coenzyme A reductase (disorder) | De-Red | LA12489-3 | |
| Dihydrolipoamide dehydrogenase deficiency Copyright http://snomed.info/sct ID:29914000 Dihydrolipoamide dehydrogenase deficiency (disorder) | E3 | LA12490-1 | |
| Ethylmalonic encephalopathy Copyright http://snomed.info/sct ID:723307008 Ethylmalonic encephalopathy (disorder) | EMA | LA12491-9 | |
| Formiminoglutamic acidemia Copyright http://snomed.info/sct ID:59761008 Glutamate formiminotransferase deficiency (disorder) | FIGLU | LA12492-7 | |
| Glutaric acidemia type I Copyright http://snomed.info/sct ID:76175005 Glutaric aciduria, type 1 (disorder) | GA-1 | LA12493-5 | |
| Glutaric acidemia (maternal) Copyright http://snomed.info/sct ID:206001006 Fetal or neonatal effect of maternal problem unrelated to pregnancy (disorder) | GA-1 (mat) | LA12494-3 | |
| Glutaric acidemia type II Copyright http://snomed.info/sct ID:22886006 Glutaric aciduria, type 2 (disorder) | GA-2 | LA12495-0 | |
| Homocystinuria Copyright http://snomed.info/sct ID:11282001 Homocystinuria (disorder) | HCY | LA12496-8 | |
| Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome Copyright http://snomed.info/sct ID:30287008 Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome (disorder) | HHH | LA12497-6 | |
| Histidinemia Copyright http://snomed.info/sct ID:410058007 Histidinemia (disorder) | HIS | LA12498-4 | |
| 3-Hydroxy-3-methylglutaric aciduria Copyright http://snomed.info/sct ID:410059004 Hydroxymethylglutaric aciduria (disorder) | HMG | LA12499-2 | |
| Hyperphenylalaninemia (variant, benign) Copyright http://snomed.info/sct ID:68528007 Hyperphenylalaninemia (disorder) | H-PHE | LA12500-7 | |
| Hyperlysinemia Copyright http://snomed.info/sct ID:58558003 Hyperlysinemia (disorder) | Hyper LYS | LA12501-5 | |
| Girate atrophy of the retina Copyright http://snomed.info/sct ID:314467007 Gyrate atrophy (disorder) | Hyper ORN | LA12502-3 | |
| Valinemia Copyright http://snomed.info/sct ID:47719001 Hypervalinemia (disorder) | Hyper VAL | LA12503-1 | |
| Isobutyrylglycinuria Copyright http://snomed.info/sct ID:445571008 Isobutyrylglycinuria (disorder) | IBG | LA12504-9 | |
| Isovaleric acidemia Copyright http://snomed.info/sct ID:87827003 Isovaleryl-coenzyme A dehydrogenase deficiency (disorder) | IVA | LA12505-6 | |
| Primary lactic acidemia Copyright http://snomed.info/sct ID:190882007 Lactic acidemia (disorder) | LACTIC | LA12506-4 | |
| Long-chain L-3 hydroxyacyl-CoA dehydrogenase deficiency Copyright http://snomed.info/sct ID:307127004 Isolated long chain hydroxyacyl-CoA dehydrogenase deficiency (disorder) | LCHAD | LA12507-2 | |
| Malonic acidemia Copyright http://snomed.info/sct ID:124594007 Deficiency of malonyl-coenzyme A decarboxylase (disorder) | MAL | LA12508-0 | |
| Medium-chain acyl-CoA dehydrogenase deficiency Copyright http://snomed.info/sct ID:128596003 Medium-chain acyl-coenzyme A dehydrogenase deficiency (disorder) | MCAD | LA12509-8 | |
| Holoocarboxylase synthase deficiency Copyright http://snomed.info/sct ID:360369003 Holocarboxylase synthase deficiency (disorder) | MCD | LA12510-6 | |
| Medium-chain ketoacyl-CoA thiolase deficiency Copyright http://snomed.info/sct ID:124265004 Deficiency of acetyl-coenzyme A acyltransferase (disorder) | MCKAT | LA12511-4 | |
| Hypermethioninemia Copyright http://snomed.info/sct ID:43123004 Hypermethioninemia (disorder) | MET | LA12512-2 | |
| Maple syrup urine disease Copyright http://snomed.info/sct ID:27718001 Maple syrup urine disease (disorder) | MSUD | LA21168-2 | |
| Methylene tetrahydrofolate reductase deficiency Copyright http://snomed.info/sct ID:41797007 5,10-Methylenetetrahydrofolate reductase deficiency (disorder) | MTHFR | LA12514-8 | |
| Methylmalonic acidemia Copyright http://snomed.info/sct ID:124680001 Deficiency of methylmalonyl-coenzyme A mutase (disorder) | MUT | LA12515-5 | |
| Nonketotic hyperglycinemia (glycine encephalopathy) Copyright http://snomed.info/sct ID:237939006 Non-ketotic hyperglycinemia (disorder) | NKHG | LA12516-3 | |
| Hydroxyprolinemia Copyright http://snomed.info/sct ID:25739007 Hyperhydroxyprolinemia (disorder) | OH PRO | LA12517-1 | |
| Ornithine transcarbamylase deficiency Copyright http://snomed.info/sct ID:80908008 Ornithine carbamoyltransferase deficiency (disorder) | OTC | LA12518-9 | |
| Pyruvate carboxylase deficiency Copyright http://snomed.info/sct ID:87694001 Pyruvate carboxylase deficiency (disorder) | PC | LA12519-7 | |
| Classic phenylketonuria Copyright http://snomed.info/sct ID:7573000 Classical phenylketonuria (disorder) | PKU | LA12520-5 | |
| Hyperprolinemia type I Copyright http://snomed.info/sct ID:61071003 Proline dehydrogenase deficiency (disorder) | PRO I | LA12521-3 | |
| Hyperprolinemia type II Copyright http://snomed.info/sct ID:717181004 Hyperprolinemia type 2 (disorder) | PRO II | LA12522-1 | |
| Propionic acidemia Copyright http://snomed.info/sct ID:69080001 Propionic acidemia (disorder) | PROP | LA12523-9 | |
| Short-chain acyl-CoA dehydrogenase deficiency Copyright http://snomed.info/sct ID:124166007 Deficiency of butyryl-CoA dehydrogenase (disorder) | SCAD | LA12524-7 | |
| Short-chain L-3-hydroxy acyl-CoA dehydrogenase deficiency Copyright http://snomed.info/sct ID:237998000 Short chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency (disorder) | SCHAD | LA12525-4 | |
| Succinyl-CoA ligase deficiency Copyright http://snomed.info/sct ID:445275003 Deficiency of succinate-coenzyme A ligase (disorder) | SUCLA2 | LA12526-2 | |
| Trifunctional protein deficiency Copyright http://snomed.info/sct ID:237999008 Mitochondrial trifunctional protein deficiency (disorder) | TFP | LA12527-0 | |
| Tyrosinemia, type I Copyright http://snomed.info/sct ID:410056006 Tyrosinemia type I (disorder) | TYR-I | LA12528-8 | |
| Tyrosinemia, type II Copyright http://snomed.info/sct ID:4887000 Hypertyrosinemia, Richner-Hanhart type (disorder) | TYR-II | LA12529-6 | |
| Tyrosinemia, type III Copyright http://snomed.info/sct ID:415764005 Tyrosinemia type III (disorder) | TYR-III | LA12530-4 | |
| Very long-chain acyl-CoA dehydrogenase deficiency Copyright http://snomed.info/sct ID:237997005 Very long chain acyl-coenzyme A dehydrogenase deficiency (disorder) | VLCAD | LA12531-2 | |
| Biotinidase deficiency Copyright http://snomed.info/sct ID:8808004 Biotinidase deficiency (disorder) | BIO | LA12532-0 | |
| Congenital adrenal hyperplasia Copyright http://snomed.info/sct ID:237751000 Congenital adrenal hyperplasia (disorder) | CAH | LA12533-8 | |
| Cystic fibrosis Copyright http://snomed.info/sct ID:190905008 Cystic fibrosis (disorder) | CF | LA22202-8 | |
| Primary congenital hypothyroidism Copyright http://snomed.info/sct ID:190268003 Congenital hypothyroidism (disorder) | CH | LA12538-7 | |
| Secondary congenital hypothyroidism Copyright http://snomed.info/sct ID:82598004 Secondary hypothyroidism (disorder) | CH2 | LA12539-5 | |
| Glucose-6-phosphate dehydrogenase deficiency Copyright http://snomed.info/sct ID:124134002 Deficiency of glucose-6-phosphate dehydrogenase (disorder) | G6PD | LA12540-3 | |
| Galactoepimerase deficiency Copyright http://snomed.info/sct ID:8849004 Uridine diphosphate glucose-4-epimerase deficiency (disorder) | GALE | LA12541-1 | |
| Galactokinase deficiency Copyright http://snomed.info/sct ID:124302001 Deficiency of galactokinase (disorder) | GALT | LA12542-9 | |
| Classical galactosemia | LA21165-8 | ||
| Hb C-carrier Copyright http://snomed.info/sct ID:76050008 Hemoglobin C trait (disorder) | LA12602-1 | ||
| Hb D-carrier Copyright http://snomed.info/sct ID:7391009 Hemoglobin D trait (disorder) | LA12603-9 | ||
| Hb E-carrier Copyright http://snomed.info/sct ID:46248003 Hemoglobin E trait (disorder) | LA12604-7 | ||
| Hb O-Arab carrier | LA12605-4 | ||
| Hb S (sickle)-carrier Copyright http://snomed.info/sct ID:16402000 Sickle cell trait (disorder) | LA12606-2 | ||
| Hb C-disease Copyright http://snomed.info/sct ID:51053007 Hemoglobin C disease (disorder) | LA12607-0 | ||
| Hb C beta-thalassemia Copyright http://snomed.info/sct ID:119691000119106 Hemoglobin C/beta thalassemia disease (disorder) | LA12608-8 | ||
| Hb D-disease | LA12609-6 | ||
| Hb D beta-thalassemia Copyright http://snomed.info/sct ID:119701000119106 Hemoglobin D/beta thalassemia disease (disorder) | LA12610-4 | ||
| Hb beta zero-thalassemia Copyright http://snomed.info/sct ID:86715000 Beta zero thalassemia (disorder) | LA12611-2 | ||
| Hb E-disease Copyright http://snomed.info/sct ID:25065001 Hemoglobin E disease (disorder) | LA12612-0 | ||
| Hb E beta-thalassemia Copyright http://snomed.info/sct ID:234392002 Hemoglobin E/beta thalassemia disease (disorder) | LA12613-8 | ||
| Hb SS-disease (sickle cell anemia) Copyright http://snomed.info/sct ID:127040003 Sickle cell-hemoglobin SS disease (disorder) | LA12614-6 | ||
| Hb S beta-thalassemia Copyright http://snomed.info/sct ID:127041004 Sickle cell-beta-thalassemia (disorder) | LA12615-3 | ||
| Hb SC-disease Copyright http://snomed.info/sct ID:35434009 Sickle cell-hemoglobin C disease (disorder) | LA12616-1 | ||
| Hb SD-disease Copyright http://snomed.info/sct ID:25472008 Sickle cell-hemoglobin D disease (disorder) | LA12617-9 | ||
| Hb SE-disease Copyright http://snomed.info/sct ID:47024008 Sickle cell-hemoglobin E disease (disorder) | LA12618-7 | ||
| Hb S O-Arab disease Copyright http://snomed.info/sct ID:127048005 Sickle cell-Hemoglobin O Arab disease (disorder) | LA12619-5 | ||
| Hb S plus Hb other than A,C,D,E,O-Arab disease Copyright http://snomed.info/sct ID:23269001 Double heterozygous sickling disorder (disorder) | LA12620-3 | ||
| Hb disease other than A, C, D, E, H,O-Arab, S Copyright http://snomed.info/sct ID:80141007 Hemoglobinopathy (disorder) | LA12621-1 | ||
| Hb carrier other than C, D, E, S ,O-Arab | LA12622-9 | ||
| Congenital HIV Copyright http://snomed.info/sct ID:52079000 Congenital human immunodeficiency virus infection (disorder) | HIV | LA12565-0 | |
| Severe combined immunodeficiency Copyright http://snomed.info/sct ID:31323000 Severe combined immunodeficiency disease (disorder) | SCID | LA12566-8 | |
| Thyroid-binding globulin deficiency Copyright http://snomed.info/sct ID:237544006 Thyroid-binding globulin deficiency (disorder) | TBG | LA12567-6 | |
| Congenital toxoplasmosis Copyright http://snomed.info/sct ID:73893000 Congenital toxoplasmosis (disorder) | TOXO | LA12568-4 | |
| CIT-I or CIT-II or ASA | LA12569-2 | ||
| HCY or MET or CBL C | LA12570-0 | ||
| PKU or BIPT-BS or BIOPT-REG or H-PHE | LA12571-8 | ||
| TYR-1 or TYR-II or TYR-III | LA12572-6 | ||
| CPT-II or CACT | LA12573-4 | ||
| LCHAD or TFP | LA12574-2 | ||
| MCAD or SCAD or GA-2(MADD) | LA12575-9 | ||
| SCAD or EMA or IBG or GA-2 (MADD) | LA12576-7 | ||
| 2M3HBA or BKT-2 | LA12577-5 | ||
| IVA or 2MBG or GA-2 or EMA | LA12578-3 | ||
| PROP or CBL A or CBL B or MUT or CBL C or MCD | LA12579-1 | ||
| 3-MCC or 3-MCC (mat) or 3MGA or BKT or HMG or MCD or BIO | LA12915-7 | ||
| CUD or CUD (mat) or CPT-Ia | LA12916-5 | ||
| GA-1 or GA-2 | LA12917-3 | ||
| Fabry disease Copyright http://snomed.info/sct ID:16652001 Fabry's disease (disorder) | GLA | LA14036-0 | |
| Pompe disease Copyright http://snomed.info/sct ID:274864009 Glycogen storage disease due to acid maltase deficiency (disorder) | GAA | LA14037-8 | |
| Krabbe disease Copyright http://snomed.info/sct ID:192782005 Galactosylceramide beta-galactosidase deficiency (disorder) | GALC | LA14038-6 | |
| Gaucher disease Copyright http://snomed.info/sct ID:190794006 Glucosylceramide beta-glucosidase deficiency (disorder) | GBA | LA14039-4 | |
| Niemann Pick disease A/B Copyright http://snomed.info/sct ID:58459009 Sphingomyelin/cholesterol lipidosis (disorder) | ASM | LA14040-2 | |
| Hb H-disease Copyright http://snomed.info/sct ID:48553001 Hemoglobin H disease (disorder) | LA16007-9 | ||
| Hemoglobinopathies Copyright http://snomed.info/sct ID:80141007 Hemoglobinopathy (disorder) | LA16207-5 | ||
| Critical congenital heart disease | CCHD | LA20349-9 | |
| X-linked adrenoleukodystrophy Copyright http://snomed.info/sct ID:65389002 Adrenoleukodystrophy (disorder) | X-ALD | LA25796-6 | |
| Mucopolysaccharidosis type I Copyright http://snomed.info/sct ID:75610003 Mucopolysaccharidosis type I (disorder) | MPS-I | LA25797-4 | |
| Guanidinoacetate N-methyltransferase deficiency Copyright http://snomed.info/sct ID:124239003 Deficiency of guanidinoacetate methyltransferase (disorder) | GAMT | LA30113-7 | |
| L-arginine:glycine amidinotransferase deficiency Copyright http://snomed.info/sct ID:702440000 Cerebral creatine deficiency syndrome 3 (disorder) | AGAT | LA30114-5 | |
| X-linked creatine transporter (CRTR) deficiency Copyright http://snomed.info/sct ID:698290008 X-linked creatine deficiency (disorder) | CRTR | LA30492-5 | |
| Spinal muscular atrophy Copyright http://snomed.info/sct ID:5262007 Spinal muscular atrophy (disorder) | SMA | LA22279-6 | |
| Deficiency of guanidinoacetate methyltransferase (disorder) | LA34469-9 | ||
| Mucopolysaccharidosis type II (disorder) | LA34470-7 |
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
| 57794-0 | Newborn screening test results panel - DBS |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Estado del recién nacido con marcadores positivos: |
| es-MX | Spanish (Mexico) | Condiciones del recién nacido con marcadores positivos: |
| fr-FR | French (France) | Conditions néonatales avec marqueurs présents: |
| fr-BE | French (Belgium) | Conditions néonatales avec marqueurs positifs: |
| it-IT | Italian (Italy) | Neonato, condizioni con marcatori positivi: Synonyms: Chimica Condizioni del neonato con marcatori positivi Presenza o Identità Punto nel tempo (episodio) Sangue Spot sangue secco |
| pt-BR | Portuguese (Brazil) | Condições de recém-nascidos com marcadores positivos: Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Новорождённый состояния с позитивными маркерами: Synonyms: Кровь Кровь сухая капля Номинальный; |
| tr-TR | Turkish (Turkey) | Pozitif belirteçli yenidoğan durumları: |
| zh-CN | Chinese (China) | 带有阳性标志的新生儿健康状况: Synonyms: 全血斑点(滤纸); |
Third Party Copyright
This material includes SNOMED Clinical Terms® (SNOMED CT®) which is used by permission of the International Health Terminology Standards Development Organisation (IHTSDO) under license. All rights reserved. SNOMED CT® was originally created by The College of American Pathologists. "SNOMED" and "SNOMED CT" are registered trademarks of the IHTSDO.
This material includes content from the US Edition to SNOMED CT, which is developed and maintained by the U.S. National Library of Medicine and is available to authorized UMLS Metathesaurus Licensees from the UTS Downloads site at https://uts.nlm.nih.gov.
Use of SNOMED CT content is subject to the terms and conditions set forth in the SNOMED CT Affiliate License Agreement. It is the responsibility of those implementing this product to ensure they are appropriately licensed and for more information on the license, including how to register as an Affiliate Licensee, please refer to http://www.snomed.org/snomed-ct/get-snomed-ct or info@snomed.org<mailto:info@snomed.org>. This may incur a fee in SNOMED International non-Member countries.
57720-5 Newborn conditions with equivocal markers [Identifier] in DBS
Observation Required in Panel
Required
Fully-Specified Name
- Component
- Newborn conditions with equivocal markers
- Property
- Prid
- Time
- Pt
- System
- Bld.dot
- Scale
- Nom
- Method
Additional Names
- Short Name
- NB conditions with equivocal markers
- Display Name
- Newborn conditions with equivocal markers Nom (DBS)
- Consumer Name Alpha Get Info
- Newborn conditions with equivocal markers, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.29
- Last Updated
- Version 2.73
- Change Reason
- Changed answer list from "Normative" to "Preferred" to fit the current LOINC model.
- Order vs. Observation
- Observation
- Common Test Rank Get Info
- 17163
Preferred Answer List LL835-0
| Answer | Code | Score | Answer ID |
|---|---|---|---|
| None Copyright http://snomed.info/sct ID:260413007 None (qualifier value) | LA137-2 | ||
| Hearing loss Copyright http://snomed.info/sct ID:15188001 Hearing loss (disorder) | HEAR | LA24366-9 | |
| 2-Methyl-3-hydroxybutyric aciduria Copyright http://snomed.info/sct ID:791000124107 2-methyl-3-hydroxybutyric aciduria (disorder) | 2M3HBA | LA12464-6 | |
| 2-Methylbutyrylglycinuria Copyright http://snomed.info/sct ID:445596006 2-methylbutyrylglycinuria (disorder) | 2MBG | LA12465-3 | |
| 3-Methylcrotonyl-CoA carboxylase deficiency Copyright http://snomed.info/sct ID:13144005 Methylcrotonyl-coenzyme A carboxylase deficiency (disorder) | 3-MCC | LA12466-1 | |
| 3-Methylcrotonyl-CoA carboxylase deficiency (maternal) Copyright http://snomed.info/sct ID:206001006 Fetal or neonatal effect of maternal problem unrelated to pregnancy (disorder) | 3-MCC (mat) | LA12467-9 | |
| 3-Methylglutaconic aciduria Copyright http://snomed.info/sct ID:237950009 3-Methylglutaconic aciduria (disorder) | 3MGA | LA12468-7 | |
| Pyroglutamic acidemia Copyright http://snomed.info/sct ID:39112005 Glutathione synthase deficiency with 5-oxoprolinuria (disorder) | 5-OXO | LA12469-5 | |
| Argininemia | ARG | LA21161-7 | |
| Argininosuccinic aciduria | ASA | LA21162-5 | |
| Biopterin defect in cofactor biosynthesis Copyright http://snomed.info/sct ID:237914002 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency (disorder) | BIOPT-BS | LA12472-9 | |
| Biopterin defect in cofactor regeneration Copyright http://snomed.info/sct ID:58256000 Dihydropteridine reductase deficiency (disorder) | BIOPT-REG | LA12473-7 | |
| Beta-ketothiolase deficiency Copyright http://snomed.info/sct ID:237953006 Mitochondrial 2-methylacetoacetyl-CoA thiolase deficiency - potassium stimulated (disorder) | BKT | LA12474-5 | |
| Carnitine acylcarnitine translocase deficiency Copyright http://snomed.info/sct ID:238003000 Carnitine acylcarnitine translocase deficiency (disorder) | CACT | LA12475-2 | |
| Cobalamin A disease Copyright http://snomed.info/sct ID:73843004 Cobalamin A disease (disorder) | CBL A | LA12476-0 | |
| Cobalamin B disease Copyright http://snomed.info/sct ID:82245003 Cobalamin B disease (disorder) | CBL B | LA12477-8 | |
| Cobalamin C disease Copyright http://snomed.info/sct ID:74653006 Cobalamin C disease (disorder) | CBL C | LA12478-6 | |
| Cobalamin D disease Copyright http://snomed.info/sct ID:31220004 Cobalamin D disease (disorder) | CBL D | LA12479-4 | |
| Cobalamin E disease Copyright http://snomed.info/sct ID:360373000 Homocystinuria vitamin B12-responsive type III (disorder) | CBL E | LA12480-2 | |
| CBL G type Methylcobalamin deficiency Copyright http://snomed.info/sct ID:721187005 Methylcobalamin deficiency type cbl G (disorder) | CBL G | LA12481-0 | |
| Citrullinemia, type I Copyright http://snomed.info/sct ID:398680004 Citrullinemia (disorder) | CIT-I | LA12482-8 | |
| Citrullinemia, type II Copyright http://snomed.info/sct ID:716863007 Citrullinemia type II (disorder) | CIT-II | LA12483-6 | |
| Carbamoyl-phosphate synthase deficiency Copyright http://snomed.info/sct ID:62522004 Congenital hyperammonemia, type I (disorder) | CPS | LA12484-4 | |
| Carnitine palmitoyltransferase type I deficiency Copyright http://snomed.info/sct ID:238001003 Carnitine palmitoyltransferase I deficiency (disorder) | CPT-Ia | LA12485-1 | |
| Carnitine palmitoyltransferase type II deficiency Copyright http://snomed.info/sct ID:238002005 Carnitine palmitoyltransferase II deficiency (disorder) | CPT-II | LA12486-9 | |
| Carnitine uptake deficiency/carnitine transport defect Copyright http://snomed.info/sct ID:21764004 Renal carnitine transport defect (disorder) | CUD | LA12487-7 | |
| Carnitine uptake deficiency/carnitine transport defect (maternal) Copyright http://snomed.info/sct ID:206001006 Fetal or neonatal effect of maternal problem unrelated to pregnancy (disorder) | CUD (mat) | LA12488-5 | |
| 2,4-Dienoyl-CoA reductase deficiency Copyright http://snomed.info/sct ID:444944006 Deficiency of 2,4-dienoyl-coenzyme A reductase (disorder) | De-Red | LA12489-3 | |
| Dihydrolipoamide dehydrogenase deficiency Copyright http://snomed.info/sct ID:29914000 Dihydrolipoamide dehydrogenase deficiency (disorder) | E3 | LA12490-1 | |
| Ethylmalonic encephalopathy Copyright http://snomed.info/sct ID:723307008 Ethylmalonic encephalopathy (disorder) | EMA | LA12491-9 | |
| Formiminoglutamic acidemia Copyright http://snomed.info/sct ID:59761008 Glutamate formiminotransferase deficiency (disorder) | FIGLU | LA12492-7 | |
| Glutaric acidemia type I Copyright http://snomed.info/sct ID:76175005 Glutaric aciduria, type 1 (disorder) | GA-1 | LA12493-5 | |
| Glutaric acidemia (maternal) Copyright http://snomed.info/sct ID:206001006 Fetal or neonatal effect of maternal problem unrelated to pregnancy (disorder) | GA-1 (mat) | LA12494-3 | |
| Glutaric acidemia type II Copyright http://snomed.info/sct ID:22886006 Glutaric aciduria, type 2 (disorder) | GA-2 | LA12495-0 | |
| Homocystinuria Copyright http://snomed.info/sct ID:11282001 Homocystinuria (disorder) | HCY | LA12496-8 | |
| Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome Copyright http://snomed.info/sct ID:30287008 Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome (disorder) | HHH | LA12497-6 | |
| Histidinemia Copyright http://snomed.info/sct ID:410058007 Histidinemia (disorder) | HIS | LA12498-4 | |
| 3-Hydroxy-3-methylglutaric aciduria Copyright http://snomed.info/sct ID:410059004 Hydroxymethylglutaric aciduria (disorder) | HMG | LA12499-2 | |
| Hyperphenylalaninemia (variant, benign) Copyright http://snomed.info/sct ID:68528007 Hyperphenylalaninemia (disorder) | H-PHE | LA12500-7 | |
| Hyperlysinemia Copyright http://snomed.info/sct ID:58558003 Hyperlysinemia (disorder) | Hyper LYS | LA12501-5 | |
| Girate atrophy of the retina Copyright http://snomed.info/sct ID:314467007 Gyrate atrophy (disorder) | Hyper ORN | LA12502-3 | |
| Valinemia Copyright http://snomed.info/sct ID:47719001 Hypervalinemia (disorder) | Hyper VAL | LA12503-1 | |
| Isobutyrylglycinuria Copyright http://snomed.info/sct ID:445571008 Isobutyrylglycinuria (disorder) | IBG | LA12504-9 | |
| Isovaleric acidemia Copyright http://snomed.info/sct ID:87827003 Isovaleryl-coenzyme A dehydrogenase deficiency (disorder) | IVA | LA12505-6 | |
| Primary lactic acidemia Copyright http://snomed.info/sct ID:190882007 Lactic acidemia (disorder) | LACTIC | LA12506-4 | |
| Long-chain L-3 hydroxyacyl-CoA dehydrogenase deficiency Copyright http://snomed.info/sct ID:307127004 Isolated long chain hydroxyacyl-CoA dehydrogenase deficiency (disorder) | LCHAD | LA12507-2 | |
| Malonic acidemia Copyright http://snomed.info/sct ID:124594007 Deficiency of malonyl-coenzyme A decarboxylase (disorder) | MAL | LA12508-0 | |
| Medium-chain acyl-CoA dehydrogenase deficiency Copyright http://snomed.info/sct ID:128596003 Medium-chain acyl-coenzyme A dehydrogenase deficiency (disorder) | MCAD | LA12509-8 | |
| Holoocarboxylase synthase deficiency Copyright http://snomed.info/sct ID:360369003 Holocarboxylase synthase deficiency (disorder) | MCD | LA12510-6 | |
| Medium-chain ketoacyl-CoA thiolase deficiency Copyright http://snomed.info/sct ID:124265004 Deficiency of acetyl-coenzyme A acyltransferase (disorder) | MCKAT | LA12511-4 | |
| Hypermethioninemia Copyright http://snomed.info/sct ID:43123004 Hypermethioninemia (disorder) | MET | LA12512-2 | |
| Maple syrup urine disease Copyright http://snomed.info/sct ID:27718001 Maple syrup urine disease (disorder) | MSUD | LA21168-2 | |
| Methylene tetrahydrofolate reductase deficiency Copyright http://snomed.info/sct ID:41797007 5,10-Methylenetetrahydrofolate reductase deficiency (disorder) | MTHFR | LA12514-8 | |
| Methylmalonic acidemia Copyright http://snomed.info/sct ID:124680001 Deficiency of methylmalonyl-coenzyme A mutase (disorder) | MUT | LA12515-5 | |
| Nonketotic hyperglycinemia (glycine encephalopathy) Copyright http://snomed.info/sct ID:237939006 Non-ketotic hyperglycinemia (disorder) | NKHG | LA12516-3 | |
| Hydroxyprolinemia Copyright http://snomed.info/sct ID:25739007 Hyperhydroxyprolinemia (disorder) | OH PRO | LA12517-1 | |
| Ornithine transcarbamylase deficiency Copyright http://snomed.info/sct ID:80908008 Ornithine carbamoyltransferase deficiency (disorder) | OTC | LA12518-9 | |
| Pyruvate carboxylase deficiency Copyright http://snomed.info/sct ID:87694001 Pyruvate carboxylase deficiency (disorder) | PC | LA12519-7 | |
| Classic phenylketonuria Copyright http://snomed.info/sct ID:7573000 Classical phenylketonuria (disorder) | PKU | LA12520-5 | |
| Hyperprolinemia type I Copyright http://snomed.info/sct ID:61071003 Proline dehydrogenase deficiency (disorder) | PRO I | LA12521-3 | |
| Hyperprolinemia type II Copyright http://snomed.info/sct ID:717181004 Hyperprolinemia type 2 (disorder) | PRO II | LA12522-1 | |
| Propionic acidemia Copyright http://snomed.info/sct ID:69080001 Propionic acidemia (disorder) | PROP | LA12523-9 | |
| Short-chain acyl-CoA dehydrogenase deficiency Copyright http://snomed.info/sct ID:124166007 Deficiency of butyryl-CoA dehydrogenase (disorder) | SCAD | LA12524-7 | |
| Short-chain L-3-hydroxy acyl-CoA dehydrogenase deficiency Copyright http://snomed.info/sct ID:237998000 Short chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency (disorder) | SCHAD | LA12525-4 | |
| Succinyl-CoA ligase deficiency Copyright http://snomed.info/sct ID:445275003 Deficiency of succinate-coenzyme A ligase (disorder) | SUCLA2 | LA12526-2 | |
| Trifunctional protein deficiency Copyright http://snomed.info/sct ID:237999008 Mitochondrial trifunctional protein deficiency (disorder) | TFP | LA12527-0 | |
| Tyrosinemia, type I Copyright http://snomed.info/sct ID:410056006 Tyrosinemia type I (disorder) | TYR-I | LA12528-8 | |
| Tyrosinemia, type II Copyright http://snomed.info/sct ID:4887000 Hypertyrosinemia, Richner-Hanhart type (disorder) | TYR-II | LA12529-6 | |
| Tyrosinemia, type III Copyright http://snomed.info/sct ID:415764005 Tyrosinemia type III (disorder) | TYR-III | LA12530-4 | |
| Very long-chain acyl-CoA dehydrogenase deficiency Copyright http://snomed.info/sct ID:237997005 Very long chain acyl-coenzyme A dehydrogenase deficiency (disorder) | VLCAD | LA12531-2 | |
| Biotinidase deficiency Copyright http://snomed.info/sct ID:8808004 Biotinidase deficiency (disorder) | BIO | LA12532-0 | |
| Congenital adrenal hyperplasia Copyright http://snomed.info/sct ID:237751000 Congenital adrenal hyperplasia (disorder) | CAH | LA12533-8 | |
| Cystic fibrosis Copyright http://snomed.info/sct ID:190905008 Cystic fibrosis (disorder) | CF | LA22202-8 | |
| Primary congenital hypothyroidism Copyright http://snomed.info/sct ID:190268003 Congenital hypothyroidism (disorder) | CH | LA12538-7 | |
| Secondary congenital hypothyroidism Copyright http://snomed.info/sct ID:82598004 Secondary hypothyroidism (disorder) | CH2 | LA12539-5 | |
| Glucose-6-phosphate dehydrogenase deficiency Copyright http://snomed.info/sct ID:124134002 Deficiency of glucose-6-phosphate dehydrogenase (disorder) | G6PD | LA12540-3 | |
| Galactoepimerase deficiency Copyright http://snomed.info/sct ID:8849004 Uridine diphosphate glucose-4-epimerase deficiency (disorder) | GALE | LA12541-1 | |
| Galactokinase deficiency Copyright http://snomed.info/sct ID:124302001 Deficiency of galactokinase (disorder) | GALT | LA12542-9 | |
| Classical galactosemia | LA21165-8 | ||
| Hb C-carrier Copyright http://snomed.info/sct ID:76050008 Hemoglobin C trait (disorder) | LA12602-1 | ||
| Hb D-carrier Copyright http://snomed.info/sct ID:7391009 Hemoglobin D trait (disorder) | LA12603-9 | ||
| Hb E-carrier Copyright http://snomed.info/sct ID:46248003 Hemoglobin E trait (disorder) | LA12604-7 | ||
| Hb O-Arab carrier | LA12605-4 | ||
| Hb S (sickle)-carrier Copyright http://snomed.info/sct ID:16402000 Sickle cell trait (disorder) | LA12606-2 | ||
| Hb C-disease Copyright http://snomed.info/sct ID:51053007 Hemoglobin C disease (disorder) | LA12607-0 | ||
| Hb C beta-thalassemia Copyright http://snomed.info/sct ID:119691000119106 Hemoglobin C/beta thalassemia disease (disorder) | LA12608-8 | ||
| Hb D-disease | LA12609-6 | ||
| Hb D beta-thalassemia Copyright http://snomed.info/sct ID:119701000119106 Hemoglobin D/beta thalassemia disease (disorder) | LA12610-4 | ||
| Hb beta zero-thalassemia Copyright http://snomed.info/sct ID:86715000 Beta zero thalassemia (disorder) | LA12611-2 | ||
| Hb E-disease Copyright http://snomed.info/sct ID:25065001 Hemoglobin E disease (disorder) | LA12612-0 | ||
| Hb E beta-thalassemia Copyright http://snomed.info/sct ID:234392002 Hemoglobin E/beta thalassemia disease (disorder) | LA12613-8 | ||
| Hb SS-disease (sickle cell anemia) Copyright http://snomed.info/sct ID:127040003 Sickle cell-hemoglobin SS disease (disorder) | LA12614-6 | ||
| Hb S beta-thalassemia Copyright http://snomed.info/sct ID:127041004 Sickle cell-beta-thalassemia (disorder) | LA12615-3 | ||
| Hb SC-disease Copyright http://snomed.info/sct ID:35434009 Sickle cell-hemoglobin C disease (disorder) | LA12616-1 | ||
| Hb SD-disease Copyright http://snomed.info/sct ID:25472008 Sickle cell-hemoglobin D disease (disorder) | LA12617-9 | ||
| Hb SE-disease Copyright http://snomed.info/sct ID:47024008 Sickle cell-hemoglobin E disease (disorder) | LA12618-7 | ||
| Hb S O-Arab disease Copyright http://snomed.info/sct ID:127048005 Sickle cell-Hemoglobin O Arab disease (disorder) | LA12619-5 | ||
| Hb S plus Hb other than A,C,D,E,O-Arab disease Copyright http://snomed.info/sct ID:23269001 Double heterozygous sickling disorder (disorder) | LA12620-3 | ||
| Hb disease other than A, C, D, E, H,O-Arab, S Copyright http://snomed.info/sct ID:80141007 Hemoglobinopathy (disorder) | LA12621-1 | ||
| Hb carrier other than C, D, E, S ,O-Arab | LA12622-9 | ||
| Congenital HIV Copyright http://snomed.info/sct ID:52079000 Congenital human immunodeficiency virus infection (disorder) | HIV | LA12565-0 | |
| Severe combined immunodeficiency Copyright http://snomed.info/sct ID:31323000 Severe combined immunodeficiency disease (disorder) | SCID | LA12566-8 | |
| Thyroid-binding globulin deficiency Copyright http://snomed.info/sct ID:237544006 Thyroid-binding globulin deficiency (disorder) | TBG | LA12567-6 | |
| Congenital toxoplasmosis Copyright http://snomed.info/sct ID:73893000 Congenital toxoplasmosis (disorder) | TOXO | LA12568-4 | |
| CIT-I or CIT-II or ASA | LA12569-2 | ||
| HCY or MET or CBL C | LA12570-0 | ||
| PKU or BIPT-BS or BIOPT-REG or H-PHE | LA12571-8 | ||
| TYR-1 or TYR-II or TYR-III | LA12572-6 | ||
| CPT-II or CACT | LA12573-4 | ||
| LCHAD or TFP | LA12574-2 | ||
| MCAD or SCAD or GA-2(MADD) | LA12575-9 | ||
| SCAD or EMA or IBG or GA-2 (MADD) | LA12576-7 | ||
| 2M3HBA or BKT-2 | LA12577-5 | ||
| IVA or 2MBG or GA-2 or EMA | LA12578-3 | ||
| PROP or CBL A or CBL B or MUT or CBL C or MCD | LA12579-1 | ||
| 3-MCC or 3-MCC (mat) or 3MGA or BKT or HMG or MCD or BIO | LA12915-7 | ||
| CUD or CUD (mat) or CPT-Ia | LA12916-5 | ||
| GA-1 or GA-2 | LA12917-3 | ||
| Fabry disease Copyright http://snomed.info/sct ID:16652001 Fabry's disease (disorder) | GLA | LA14036-0 | |
| Pompe disease Copyright http://snomed.info/sct ID:274864009 Glycogen storage disease due to acid maltase deficiency (disorder) | GAA | LA14037-8 | |
| Krabbe disease Copyright http://snomed.info/sct ID:192782005 Galactosylceramide beta-galactosidase deficiency (disorder) | GALC | LA14038-6 | |
| Gaucher disease Copyright http://snomed.info/sct ID:190794006 Glucosylceramide beta-glucosidase deficiency (disorder) | GBA | LA14039-4 | |
| Niemann Pick disease A/B Copyright http://snomed.info/sct ID:58459009 Sphingomyelin/cholesterol lipidosis (disorder) | ASM | LA14040-2 | |
| Hb H-disease Copyright http://snomed.info/sct ID:48553001 Hemoglobin H disease (disorder) | LA16007-9 | ||
| Hemoglobinopathies Copyright http://snomed.info/sct ID:80141007 Hemoglobinopathy (disorder) | LA16207-5 | ||
| Critical congenital heart disease | CCHD | LA20349-9 | |
| X-linked adrenoleukodystrophy Copyright http://snomed.info/sct ID:65389002 Adrenoleukodystrophy (disorder) | X-ALD | LA25796-6 | |
| Mucopolysaccharidosis type I Copyright http://snomed.info/sct ID:75610003 Mucopolysaccharidosis type I (disorder) | MPS-I | LA25797-4 | |
| Guanidinoacetate N-methyltransferase deficiency Copyright http://snomed.info/sct ID:124239003 Deficiency of guanidinoacetate methyltransferase (disorder) | GAMT | LA30113-7 | |
| L-arginine:glycine amidinotransferase deficiency Copyright http://snomed.info/sct ID:702440000 Cerebral creatine deficiency syndrome 3 (disorder) | AGAT | LA30114-5 | |
| X-linked creatine transporter (CRTR) deficiency Copyright http://snomed.info/sct ID:698290008 X-linked creatine deficiency (disorder) | CRTR | LA30492-5 | |
| Spinal muscular atrophy Copyright http://snomed.info/sct ID:5262007 Spinal muscular atrophy (disorder) | SMA | LA22279-6 | |
| Deficiency of guanidinoacetate methyltransferase (disorder) | LA34469-9 | ||
| Mucopolysaccharidosis type II (disorder) | LA34470-7 |
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
| 57794-0 | Newborn screening test results panel - DBS |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Estado del recién nacido con marcadores equívocos: |
| es-MX | Spanish (Mexico) | Condiciones del recién nacido con marcadores equívocos: |
| fr-FR | French (France) | Conditions néonatales avec marqueurs équivoques: |
| fr-BE | French (Belgium) | Conditions néonatales avec marqueurs équivoques: |
| it-IT | Italian (Italy) | Neonato, condizioni con marcatori sospetti: Synonyms: Chimica Condizioni del neonato con marcatori sospetti Presenza o Identità Punto nel tempo (episodio) Sangue Spot sangue secco |
| pt-BR | Portuguese (Brazil) | Condições de recém-nascidos com marcadores equívocos: Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Новорождённый состояние с неопределённые маркеры: Synonyms: Кровь Кровь сухая капля Номинальный; |
| tr-TR | Turkish (Turkey) | Kuşkulu belirteçli yenidoğan şartları: |
| zh-CN | Chinese (China) | 带有模糊标志的新生儿健康状况: Synonyms: 全血斑点(滤纸); |
Third Party Copyright
This material includes SNOMED Clinical Terms® (SNOMED CT®) which is used by permission of the International Health Terminology Standards Development Organisation (IHTSDO) under license. All rights reserved. SNOMED CT® was originally created by The College of American Pathologists. "SNOMED" and "SNOMED CT" are registered trademarks of the IHTSDO.
This material includes content from the US Edition to SNOMED CT, which is developed and maintained by the U.S. National Library of Medicine and is available to authorized UMLS Metathesaurus Licensees from the UTS Downloads site at https://uts.nlm.nih.gov.
Use of SNOMED CT content is subject to the terms and conditions set forth in the SNOMED CT Affiliate License Agreement. It is the responsibility of those implementing this product to ensure they are appropriately licensed and for more information on the license, including how to register as an Affiliate Licensee, please refer to http://www.snomed.org/snomed-ct/get-snomed-ct or info@snomed.org<mailto:info@snomed.org>. This may incur a fee in SNOMED International non-Member countries.
57724-7 Newborn screening short narrative summary
Observation Required in Panel
Optional
Fully-Specified Name
- Component
- Newborn screening short narrative summary
- Property
- Txt
- Time
- Pt
- System
- ^Patient
- Scale
- Nar
- Method
Additional Names
- Short Name
- NBS short summary
- Display Name
- NBS short narrative summary Nar
- Consumer Name Alpha Get Info
- NBS short narrative summary
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.29
- Last Updated
- Version 2.73
- Order vs. Observation
- Observation
- Common Test Rank Get Info
- 17668
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
| 57794-0 | Newborn screening test results panel - DBS |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Resumen narrativo corto del cribado del recién nacido: |
| es-MX | Spanish (Mexico) | Breve resumen narrativo de la detección del recién nacido: |
| fr-FR | French (France) | Dépistage néonatal résumé compte rendu: |
| fr-BE | French (Belgium) | Screening Nouveau-né. Résumé court: |
| it-IT | Italian (Italy) | Screening neonatale, breve resoconto: Synonyms: Breve resoconto di screening neonatale Chimica paziente Punto nel tempo (episodio) Testo |
| nl-NL | Dutch (Netherlands) | pasgeborene screening korte tekstuele samnvatting: |
| pt-BR | Portuguese (Brazil) | Triagem neonatal pequeno sumário narrativo: Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Новорождённый скрининг краткий описательный краткие сведения: Synonyms: Описательный Текст Точка во времени; |
| tr-TR | Turkish (Turkey) | Yenidoğan tarama kısa yazılı özet: |
| zh-CN | Chinese (China) | 新生儿筛查简述摘要: Synonyms: Asympt SCN 化学; |
57129-9 Full newborn screening summary report for display or printing
Term Description
This code indicates that the OBX-5 carries a summary new born screen report as formatted text. Use HL7 type FT or if you want to see as PDF use HL7 encoded data type (ED) and send as binary data in the OBX-5. It is an option entry that provides a convenient way for laboratories to send reports for display and/or printing to clinicians with whatever format they now deliver. If sent as a PDF it could include letter head, water marks etc.
Source: Regenstrief LOINC
Observation Required in Panel
Optional
Fully-Specified Name
- Component
- Full newborn screening summary report for display or printing
- Property
- -
- Time
- Pt
- System
- ^Patient
- Scale
- Doc
- Method
Additional Names
- Short Name
- Full NBS summary for display/printing
- Display Name
- Full NBS summary report for display or printing Doc
- Consumer Name Alpha Get Info
- Full NBS Summary Report for Display Or Printing
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.29
- Last Updated
- Version 2.38
- Order vs. Observation
- Observation
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
| 57794-0 | Newborn screening test results panel - DBS |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Informe de cribado total en el recién nacido para su visualización o impresión: |
| es-MX | Spanish (Mexico) | Informe resumido completo de las pruebas de detección del recién nacido para su visualización o impresión: |
| it-IT | Italian (Italy) | Screening neonatale completo, referto generale per la visualizzazione o la stampa: Synonyms: Chimica paziente Punto nel tempo (episodio) Referto Referto generale di screening neonatale completo p |
| nl-NL | Dutch (Netherlands) | volledig verslag screening nieuwgeborene voor weergave en afdrukken: Synonyms: volledige pasgeborene screening samenvattend rapport voor weergave of om te printen |
| pt-BR | Portuguese (Brazil) | Relatório completo de síntese de Triagem Neonatal para exibição ou impressão: Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Полный новорождённый скрининг краткие сведения отчёт для вывода на экран или печати: Synonyms: Документ Точка во времени; |
| tr-TR | Turkish (Turkey) | Tam yenidoğan tarama özet raporu görüntü veya baskı için: |
| zh-CN | Chinese (China) | 适用于显示或打印的全面新生儿筛查摘要报告: Synonyms: Asympt SCN 临床文档型; |
57719-7 Conditions tested for in this newborn screening study [Identifier] in DBS
Observation Required in Panel
Required
Fully-Specified Name
- Component
- Conditions tested for in this newborn screening study
- Property
- ID
- Time
- Pt
- System
- Bld.dot
- Scale
- Nom
- Method
Additional Names
- Short Name
- Conditions tested for in NBS study DBS
- Display Name
- Conditions tested for in this NBS study Nom (DBS) [ID]
- Consumer Name Alpha Get Info
- Conditions Tested for in This NBS Study, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.29
- Last Updated
- Version 2.73
- Change Reason
- Changed answer list from "Normative" to "Preferred" to fit the current LOINC model.
- Order vs. Observation
- Observation
- Common Test Rank Get Info
- 673
Preferred Answer List LL841-8
| Answer | Code | Score | Answer ID |
|---|---|---|---|
| Hemoglobin C crystals | LA11231-0 | ||
| Hearing loss Copyright http://snomed.info/sct ID:15188001 Hearing loss (disorder) | HEAR | LA24366-9 | |
| 2-Methyl-3-hydroxybutyric aciduria Copyright http://snomed.info/sct ID:791000124107 2-methyl-3-hydroxybutyric aciduria (disorder) | 2M3HBA | LA12464-6 | |
| 2-Methylbutyrylglycinuria Copyright http://snomed.info/sct ID:445596006 2-methylbutyrylglycinuria (disorder) | 2MBG | LA12465-3 | |
| 3-Methylcrotonyl-CoA carboxylase deficiency Copyright http://snomed.info/sct ID:13144005 Methylcrotonyl-coenzyme A carboxylase deficiency (disorder) | 3-MCC | LA12466-1 | |
| 3-Methylcrotonyl-CoA carboxylase deficiency (maternal) Copyright http://snomed.info/sct ID:206001006 Fetal or neonatal effect of maternal problem unrelated to pregnancy (disorder) | 3-MCC (mat) | LA12467-9 | |
| 3-Methylglutaconic aciduria Copyright http://snomed.info/sct ID:237950009 3-Methylglutaconic aciduria (disorder) | 3MGA | LA12468-7 | |
| Pyroglutamic acidemia Copyright http://snomed.info/sct ID:39112005 Glutathione synthase deficiency with 5-oxoprolinuria (disorder) | 5-OXO | LA12469-5 | |
| Argininemia | ARG | LA21161-7 | |
| Argininosuccinic aciduria | ASA | LA21162-5 | |
| Biopterin defect in cofactor biosynthesis Copyright http://snomed.info/sct ID:237914002 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency (disorder) | BIOPT-BS | LA12472-9 | |
| Biopterin defect in cofactor regeneration Copyright http://snomed.info/sct ID:58256000 Dihydropteridine reductase deficiency (disorder) | BIOPT-REG | LA12473-7 | |
| Beta-ketothiolase deficiency Copyright http://snomed.info/sct ID:237953006 Mitochondrial 2-methylacetoacetyl-CoA thiolase deficiency - potassium stimulated (disorder) | BKT | LA12474-5 | |
| Carnitine acylcarnitine translocase deficiency Copyright http://snomed.info/sct ID:238003000 Carnitine acylcarnitine translocase deficiency (disorder) | CACT | LA12475-2 | |
| Cobalamin A disease Copyright http://snomed.info/sct ID:73843004 Cobalamin A disease (disorder) | CBL A | LA12476-0 | |
| Cobalamin B disease Copyright http://snomed.info/sct ID:82245003 Cobalamin B disease (disorder) | CBL B | LA12477-8 | |
| Cobalamin C disease Copyright http://snomed.info/sct ID:74653006 Cobalamin C disease (disorder) | CBL C | LA12478-6 | |
| Cobalamin D disease Copyright http://snomed.info/sct ID:31220004 Cobalamin D disease (disorder) | CBL D | LA12479-4 | |
| Cobalamin E disease Copyright http://snomed.info/sct ID:360373000 Homocystinuria vitamin B12-responsive type III (disorder) | CBL E | LA12480-2 | |
| CBL G type Methylcobalamin deficiency Copyright http://snomed.info/sct ID:721187005 Methylcobalamin deficiency type cbl G (disorder) | CBL G | LA12481-0 | |
| Citrullinemia, type I Copyright http://snomed.info/sct ID:398680004 Citrullinemia (disorder) | CIT-I | LA12482-8 | |
| Citrullinemia, type II Copyright http://snomed.info/sct ID:716863007 Citrullinemia type II (disorder) | CIT-II | LA12483-6 | |
| Carbamoyl-phosphate synthase deficiency Copyright http://snomed.info/sct ID:62522004 Congenital hyperammonemia, type I (disorder) | CPS | LA12484-4 | |
| Carnitine palmitoyltransferase type I deficiency Copyright http://snomed.info/sct ID:238001003 Carnitine palmitoyltransferase I deficiency (disorder) | CPT-Ia | LA12485-1 | |
| Carnitine palmitoyltransferase type II deficiency Copyright http://snomed.info/sct ID:238002005 Carnitine palmitoyltransferase II deficiency (disorder) | CPT-II | LA12486-9 | |
| Carnitine uptake deficiency/carnitine transport defect Copyright http://snomed.info/sct ID:21764004 Renal carnitine transport defect (disorder) | CUD | LA12487-7 | |
| Carnitine uptake deficiency/carnitine transport defect (maternal) Copyright http://snomed.info/sct ID:206001006 Fetal or neonatal effect of maternal problem unrelated to pregnancy (disorder) | CUD (mat) | LA12488-5 | |
| 2,4-Dienoyl-CoA reductase deficiency Copyright http://snomed.info/sct ID:444944006 Deficiency of 2,4-dienoyl-coenzyme A reductase (disorder) | De-Red | LA12489-3 | |
| Dihydrolipoamide dehydrogenase deficiency Copyright http://snomed.info/sct ID:29914000 Dihydrolipoamide dehydrogenase deficiency (disorder) | E3 | LA12490-1 | |
| Ethylmalonic encephalopathy Copyright http://snomed.info/sct ID:723307008 Ethylmalonic encephalopathy (disorder) | EMA | LA12491-9 | |
| Formiminoglutamic acidemia Copyright http://snomed.info/sct ID:59761008 Glutamate formiminotransferase deficiency (disorder) | FIGLU | LA12492-7 | |
| Glutaric acidemia type I Copyright http://snomed.info/sct ID:76175005 Glutaric aciduria, type 1 (disorder) | GA-1 | LA12493-5 | |
| Glutaric acidemia (maternal) Copyright http://snomed.info/sct ID:206001006 Fetal or neonatal effect of maternal problem unrelated to pregnancy (disorder) | GA-1 (mat) | LA12494-3 | |
| Glutaric acidemia type II Copyright http://snomed.info/sct ID:22886006 Glutaric aciduria, type 2 (disorder) | GA-2 | LA12495-0 | |
| Homocystinuria Copyright http://snomed.info/sct ID:11282001 Homocystinuria (disorder) | HCY | LA12496-8 | |
| Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome Copyright http://snomed.info/sct ID:30287008 Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome (disorder) | HHH | LA12497-6 | |
| Histidinemia Copyright http://snomed.info/sct ID:410058007 Histidinemia (disorder) | HIS | LA12498-4 | |
| 3-Hydroxy-3-methylglutaric aciduria Copyright http://snomed.info/sct ID:410059004 Hydroxymethylglutaric aciduria (disorder) | HMG | LA12499-2 | |
| Hyperphenylalaninemia (variant, benign) Copyright http://snomed.info/sct ID:68528007 Hyperphenylalaninemia (disorder) | H-PHE | LA12500-7 | |
| Hyperlysinemia Copyright http://snomed.info/sct ID:58558003 Hyperlysinemia (disorder) | Hyper LYS | LA12501-5 | |
| Girate atrophy of the retina Copyright http://snomed.info/sct ID:314467007 Gyrate atrophy (disorder) | Hyper ORN | LA12502-3 | |
| Valinemia Copyright http://snomed.info/sct ID:47719001 Hypervalinemia (disorder) | Hyper VAL | LA12503-1 | |
| Isobutyrylglycinuria Copyright http://snomed.info/sct ID:445571008 Isobutyrylglycinuria (disorder) | IBG | LA12504-9 | |
| Isovaleric acidemia Copyright http://snomed.info/sct ID:87827003 Isovaleryl-coenzyme A dehydrogenase deficiency (disorder) | IVA | LA12505-6 | |
| Primary lactic acidemia Copyright http://snomed.info/sct ID:190882007 Lactic acidemia (disorder) | LACTIC | LA12506-4 | |
| Long-chain L-3 hydroxyacyl-CoA dehydrogenase deficiency Copyright http://snomed.info/sct ID:307127004 Isolated long chain hydroxyacyl-CoA dehydrogenase deficiency (disorder) | LCHAD | LA12507-2 | |
| Malonic acidemia Copyright http://snomed.info/sct ID:124594007 Deficiency of malonyl-coenzyme A decarboxylase (disorder) | MAL | LA12508-0 | |
| Medium-chain acyl-CoA dehydrogenase deficiency Copyright http://snomed.info/sct ID:128596003 Medium-chain acyl-coenzyme A dehydrogenase deficiency (disorder) | MCAD | LA12509-8 | |
| Holoocarboxylase synthase deficiency Copyright http://snomed.info/sct ID:360369003 Holocarboxylase synthase deficiency (disorder) | MCD | LA12510-6 | |
| Medium-chain ketoacyl-CoA thiolase deficiency Copyright http://snomed.info/sct ID:124265004 Deficiency of acetyl-coenzyme A acyltransferase (disorder) | MCKAT | LA12511-4 | |
| Hypermethioninemia Copyright http://snomed.info/sct ID:43123004 Hypermethioninemia (disorder) | MET | LA12512-2 | |
| Maple syrup urine disease Copyright http://snomed.info/sct ID:27718001 Maple syrup urine disease (disorder) | MSUD | LA21168-2 | |
| Methylene tetrahydrofolate reductase deficiency Copyright http://snomed.info/sct ID:41797007 5,10-Methylenetetrahydrofolate reductase deficiency (disorder) | MTHFR | LA12514-8 | |
| Methylmalonic acidemia Copyright http://snomed.info/sct ID:124680001 Deficiency of methylmalonyl-coenzyme A mutase (disorder) | MUT | LA12515-5 | |
| Nonketotic hyperglycinemia (glycine encephalopathy) Copyright http://snomed.info/sct ID:237939006 Non-ketotic hyperglycinemia (disorder) | NKHG | LA12516-3 | |
| Hydroxyprolinemia Copyright http://snomed.info/sct ID:25739007 Hyperhydroxyprolinemia (disorder) | OH PRO | LA12517-1 | |
| Ornithine transcarbamylase deficiency Copyright http://snomed.info/sct ID:80908008 Ornithine carbamoyltransferase deficiency (disorder) | OTC | LA12518-9 | |
| Pyruvate carboxylase deficiency Copyright http://snomed.info/sct ID:87694001 Pyruvate carboxylase deficiency (disorder) | PC | LA12519-7 | |
| Classic phenylketonuria Copyright http://snomed.info/sct ID:7573000 Classical phenylketonuria (disorder) | PKU | LA12520-5 | |
| Hyperprolinemia type I Copyright http://snomed.info/sct ID:61071003 Proline dehydrogenase deficiency (disorder) | PRO I | LA12521-3 | |
| Hyperprolinemia type II Copyright http://snomed.info/sct ID:717181004 Hyperprolinemia type 2 (disorder) | PRO II | LA12522-1 | |
| Propionic acidemia Copyright http://snomed.info/sct ID:69080001 Propionic acidemia (disorder) | PROP | LA12523-9 | |
| Short-chain acyl-CoA dehydrogenase deficiency Copyright http://snomed.info/sct ID:124166007 Deficiency of butyryl-CoA dehydrogenase (disorder) | SCAD | LA12524-7 | |
| Short-chain L-3-hydroxy acyl-CoA dehydrogenase deficiency Copyright http://snomed.info/sct ID:237998000 Short chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency (disorder) | SCHAD | LA12525-4 | |
| Succinyl-CoA ligase deficiency Copyright http://snomed.info/sct ID:445275003 Deficiency of succinate-coenzyme A ligase (disorder) | SUCLA2 | LA12526-2 | |
| Trifunctional protein deficiency Copyright http://snomed.info/sct ID:237999008 Mitochondrial trifunctional protein deficiency (disorder) | TFP | LA12527-0 | |
| Tyrosinemia, type I Copyright http://snomed.info/sct ID:410056006 Tyrosinemia type I (disorder) | TYR-I | LA12528-8 | |
| Tyrosinemia, type II Copyright http://snomed.info/sct ID:4887000 Hypertyrosinemia, Richner-Hanhart type (disorder) | TYR-II | LA12529-6 | |
| Tyrosinemia, type III Copyright http://snomed.info/sct ID:415764005 Tyrosinemia type III (disorder) | TYR-III | LA12530-4 | |
| Very long-chain acyl-CoA dehydrogenase deficiency Copyright http://snomed.info/sct ID:237997005 Very long chain acyl-coenzyme A dehydrogenase deficiency (disorder) | VLCAD | LA12531-2 | |
| Biotinidase deficiency Copyright http://snomed.info/sct ID:8808004 Biotinidase deficiency (disorder) | BIO | LA12532-0 | |
| Congenital adrenal hyperplasia Copyright http://snomed.info/sct ID:237751000 Congenital adrenal hyperplasia (disorder) | CAH | LA12533-8 | |
| Cystic fibrosis Copyright http://snomed.info/sct ID:190905008 Cystic fibrosis (disorder) | CF | LA22202-8 | |
| Primary congenital hypothyroidism Copyright http://snomed.info/sct ID:190268003 Congenital hypothyroidism (disorder) | CH | LA12538-7 | |
| Secondary congenital hypothyroidism Copyright http://snomed.info/sct ID:82598004 Secondary hypothyroidism (disorder) | CH2 | LA12539-5 | |
| Glucose-6-phosphate dehydrogenase deficiency Copyright http://snomed.info/sct ID:124134002 Deficiency of glucose-6-phosphate dehydrogenase (disorder) | G6PD | LA12540-3 | |
| Galactoepimerase deficiency Copyright http://snomed.info/sct ID:8849004 Uridine diphosphate glucose-4-epimerase deficiency (disorder) | GALE | LA12541-1 | |
| Galactokinase deficiency Copyright http://snomed.info/sct ID:124302001 Deficiency of galactokinase (disorder) | GALT | LA12542-9 | |
| Classical galactosemia | GALT | LA21165-8 | |
| Hb C-carrier Copyright http://snomed.info/sct ID:76050008 Hemoglobin C trait (disorder) | LA12602-1 | ||
| Hb D-carrier Copyright http://snomed.info/sct ID:7391009 Hemoglobin D trait (disorder) | LA12603-9 | ||
| Hb E-carrier Copyright http://snomed.info/sct ID:46248003 Hemoglobin E trait (disorder) | LA12604-7 | ||
| Hb O-Arab carrier | LA12605-4 | ||
| Hb S (sickle)-carrier Copyright http://snomed.info/sct ID:16402000 Sickle cell trait (disorder) | LA12606-2 | ||
| Hb C-disease Copyright http://snomed.info/sct ID:51053007 Hemoglobin C disease (disorder) | LA12607-0 | ||
| Hb C beta-thalassemia Copyright http://snomed.info/sct ID:119691000119106 Hemoglobin C/beta thalassemia disease (disorder) | LA12608-8 | ||
| Hb D-disease | LA12609-6 | ||
| Hb D beta-thalassemia Copyright http://snomed.info/sct ID:119701000119106 Hemoglobin D/beta thalassemia disease (disorder) | LA12610-4 | ||
| Hb beta zero-thalassemia Copyright http://snomed.info/sct ID:86715000 Beta zero thalassemia (disorder) | LA12611-2 | ||
| Hb E-disease Copyright http://snomed.info/sct ID:25065001 Hemoglobin E disease (disorder) | LA12612-0 | ||
| Hb E beta-thalassemia Copyright http://snomed.info/sct ID:234392002 Hemoglobin E/beta thalassemia disease (disorder) | LA12613-8 | ||
| Hb SS-disease (sickle cell anemia) Copyright http://snomed.info/sct ID:127040003 Sickle cell-hemoglobin SS disease (disorder) | LA12614-6 | ||
| Hb S beta-thalassemia Copyright http://snomed.info/sct ID:127041004 Sickle cell-beta-thalassemia (disorder) | LA12615-3 | ||
| Hb SC-disease Copyright http://snomed.info/sct ID:35434009 Sickle cell-hemoglobin C disease (disorder) | LA12616-1 | ||
| Hb SD-disease Copyright http://snomed.info/sct ID:25472008 Sickle cell-hemoglobin D disease (disorder) | LA12617-9 | ||
| Hb SE-disease Copyright http://snomed.info/sct ID:47024008 Sickle cell-hemoglobin E disease (disorder) | LA12618-7 | ||
| Hb S O-Arab disease Copyright http://snomed.info/sct ID:127048005 Sickle cell-Hemoglobin O Arab disease (disorder) | LA12619-5 | ||
| Hb S plus Hb other than A,C,D,E,O-Arab disease Copyright http://snomed.info/sct ID:23269001 Double heterozygous sickling disorder (disorder) | LA12620-3 | ||
| Hb disease other than A, C, D, E, H,O-Arab, S Copyright http://snomed.info/sct ID:80141007 Hemoglobinopathy (disorder) | LA12621-1 | ||
| Hb carrier other than C, D, E, S ,O-Arab | LA12622-9 | ||
| Congenital HIV Copyright http://snomed.info/sct ID:52079000 Congenital human immunodeficiency virus infection (disorder) | HIV | LA12565-0 | |
| Severe combined immunodeficiency Copyright http://snomed.info/sct ID:31323000 Severe combined immunodeficiency disease (disorder) | SCID | LA12566-8 | |
| Thyroid-binding globulin deficiency Copyright http://snomed.info/sct ID:237544006 Thyroid-binding globulin deficiency (disorder) | TBG | LA12567-6 | |
| Congenital toxoplasmosis Copyright http://snomed.info/sct ID:73893000 Congenital toxoplasmosis (disorder) | TOXO | LA12568-4 | |
| Fabry disease Copyright http://snomed.info/sct ID:16652001 Fabry's disease (disorder) | GLA | LA14036-0 | |
| Pompe disease Copyright http://snomed.info/sct ID:274864009 Glycogen storage disease due to acid maltase deficiency (disorder) | GAA | LA14037-8 | |
| Krabbe disease Copyright http://snomed.info/sct ID:192782005 Galactosylceramide beta-galactosidase deficiency (disorder) | GALC | LA14038-6 | |
| Gaucher disease Copyright http://snomed.info/sct ID:190794006 Glucosylceramide beta-glucosidase deficiency (disorder) | GBA | LA14039-4 | |
| Niemann Pick disease A/B Copyright http://snomed.info/sct ID:58459009 Sphingomyelin/cholesterol lipidosis (disorder) | ASM | LA14040-2 | |
| Hb H-disease Copyright http://snomed.info/sct ID:48553001 Hemoglobin H disease (disorder) | LA16007-9 | ||
| Hemoglobinopathies Copyright http://snomed.info/sct ID:80141007 Hemoglobinopathy (disorder) | LA16207-5 | ||
| Critical congenital heart disease | CCHD | LA20349-9 | |
| X-linked adrenoleukodystrophy Copyright http://snomed.info/sct ID:65389002 Adrenoleukodystrophy (disorder) | X-ALD | LA25796-6 | |
| Mucopolysaccharidosis type I Copyright http://snomed.info/sct ID:75610003 Mucopolysaccharidosis type I (disorder) | MPS-I | LA25797-4 | |
| Guanidinoacetate N-methyltransferase deficiency Copyright http://snomed.info/sct ID:124239003 Deficiency of guanidinoacetate methyltransferase (disorder) | GAMT | LA30113-7 | |
| L-arginine:glycine amidinotransferase deficiency Copyright http://snomed.info/sct ID:702440000 Cerebral creatine deficiency syndrome 3 (disorder) | AGAT | LA30114-5 | |
| X-linked creatine transporter (CRTR) deficiency Copyright http://snomed.info/sct ID:698290008 X-linked creatine deficiency (disorder) | CRTR | LA30492-5 | |
| Spinal muscular atrophy Copyright http://snomed.info/sct ID:5262007 Spinal muscular atrophy (disorder) | SMA | LA22279-6 | |
| Mucopolysaccharidosis type II (disorder) | LA34470-7 |
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
| 57794-0 | Newborn screening test results panel - DBS |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Condiciones probadas en este estudio de cribado neonatal: |
| es-MX | Spanish (Mexico) | Condiciones examinadas en este estudio de detección de recién nacidos: |
| fr-FR | French (France) | Conditions requises pour le dépistage néonatal: |
| it-IT | Italian (Italy) | Condizioni analizzate in questo studio di screening neonatale: Synonyms: Chimica Identificatore Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | geteste aandoeningen in dit pasgeborene screeningsonderzoek: |
| pt-BR | Portuguese (Brazil) | Condições testadas no presente estudo de triagem neonatal: Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Состояния тестированные в данное новорождённый скрининг исследование: Synonyms: Идентификатор Кровь Кровь сухая капля Номинальный; |
| tr-TR | Turkish (Turkey) | Koşullar yenidoğan tarama çalışmasında test edilen: |
| zh-CN | Chinese (China) | 这项新生儿筛查检查当中的试验所针对的情况: Synonyms: Asympt SCN 全血斑点(滤纸); |
Third Party Copyright
This material includes SNOMED Clinical Terms® (SNOMED CT®) which is used by permission of the International Health Terminology Standards Development Organisation (IHTSDO) under license. All rights reserved. SNOMED CT® was originally created by The College of American Pathologists. "SNOMED" and "SNOMED CT" are registered trademarks of the IHTSDO.
This material includes content from the US Edition to SNOMED CT, which is developed and maintained by the U.S. National Library of Medicine and is available to authorized UMLS Metathesaurus Licensees from the UTS Downloads site at https://uts.nlm.nih.gov.
Use of SNOMED CT content is subject to the terms and conditions set forth in the SNOMED CT Affiliate License Agreement. It is the responsibility of those implementing this product to ensure they are appropriately licensed and for more information on the license, including how to register as an Affiliate Licensee, please refer to http://www.snomed.org/snomed-ct/get-snomed-ct or info@snomed.org<mailto:info@snomed.org>. This may incur a fee in SNOMED International non-Member countries.
69969-4 Newborn screening report overall laboratory comment
Term Description
The use of ZNB or NTE segments for report boilerplate information, such as the list of conditions tested, is not recommended because receiving organizations may not know how to process the data. This LOINC code for Newborn Screening Report Overall Laboratory Comment enables sending this data in an OBX segment. If you send a list of conditions tested or another list, we suggest you use semicolons instead of commas to separate conditions in a list to avoid problems if the condition names contain commas.
Source: Regenstrief LOINC
Observation Required in Panel
Optional
Fully-Specified Name
- Component
- Newborn screening report overall laboratory comment
- Property
- Txt
- Time
- Pt
- System
- ^Patient
- Scale
- Nar
- Method
Additional Names
- Short Name
- NBS report overall lab comment
- Display Name
- NBS report overall laboratory comment Nar
- Consumer Name Alpha Get Info
- NBS report overall laboratory comment
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.40
- Last Updated
- Version 2.73
- Order vs. Observation
- Observation
- Common Test Rank Get Info
- 13235
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
| 57794-0 | Newborn screening test results panel - DBS |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Informe de evaluación del recién nacido comentario general laboratorio: |
| es-MX | Spanish (Mexico) | Informe de cribado neonatal comentario general de laboratorio: |
| fr-FR | French (France) | Compte rendu dépistage néonatal - Commentaire: |
| it-IT | Italian (Italy) | Screening neonatale, referto di commento complessivo risultati di laboratorio: Synonyms: Chimica Commento di laboratorio paziente Punto nel tempo (episodio) Referto Testo |
| nl-NL | Dutch (Netherlands) | pasgeborene screening rapport overall laboratoriumopmerkingen: |
| ru-RU | Russian (Russian Federation) | Новорождённых скрининг отчёт полный лаборатории комментарий: Synonyms: Описательный Текст Точка во времени; |
| tr-TR | Turkish (Turkey) | Yenidoğan tarama raporu genel laboratuvar önerisi: |
| zh-CN | Chinese (China) | 新生儿筛查报告总体实验室注释: Synonyms: Asympt SCN 全面; |
57717-1 Newborn screen card data panel
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Newborn screen card data panel
- Property
- -
- Time
- Pt
- System
- Bld.dot
- Scale
- -
- Method
Additional Names
- Short Name
- NBS card data pnl
- Display Name
- NBS card data panel (DBS)
- Consumer Name Alpha Get Info
- NBS card data panel, Dried blood spot
Basic Attributes
- Class
- PANEL.CHEM
- Type
- Laboratory
- First Released
- Version 2.29
- Last Updated
- Version 2.77
- Order vs. Observation
- Order
- Panel Type
- Organizer
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
| 57794-0 | Newborn screening test results panel - DBS |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-MX | Spanish (Mexico) | Panel de datos de la tarjeta de pantalla para recién nacidos: |
| es-ES | Spanish (Spain) | Panel de cribado de tarjeta de datos del recién nacido: |
| fr-BE | French (Belgium) | Newborn screen card data panel: |
| fr-FR | French (France) | Dépistage néonatal - carte panel: |
| it-IT | Italian (Italy) | Screening neonatale, panel scheda dati: Synonyms: Chimica Panel scheda dati di screening neonatale Punto nel tempo (episodio) Sangue Set di prescrizione chimica Spot sangue secco |
| nl-NL | Dutch (Netherlands) | pasgeborene screening card data panel: |
| pt-BR | Portuguese (Brazil) | Recém-nascido quadro cartão painel de dados: Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Новорождённый скрин карта данные панель: Synonyms: Кровь Кровь сухая капля Точка во времени; |
| zh-CN | Chinese (China) | 新生儿筛查卡数据组套: Synonyms: 全血斑点(滤纸); |
57716-3 State printed on filter paper card [Identifier] in NBS card
Term Description
This is the state pre-printed on the NBS card
Source: Regenstrief LOINC
Observation Required in Panel
Required
Fully-Specified Name
- Component
- State printed on filter paper card
- Property
- ID
- Time
- Pt
- System
- NBS card
- Scale
- Nom
- Method
Additional Names
- Short Name
- State printed on card NBS card
- Display Name
- State printed on filter paper card Nom (NBS card) [ID]
- Consumer Name Alpha Get Info
- State printed on filter paper card, NBS Card
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.29
- Last Updated
- Version 2.73
- Order vs. Observation
- Observation
- Common Test Rank Get Info
- 19647
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
| 57794-0 | Newborn screening test results panel - DBS |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-MX | Spanish (Mexico) | Estado impreso en tarjeta de papel de filtro: |
| es-ES | Spanish (Spain) | Estado de origen: |
| fr-FR | French (France) | État imprimé carte filtre: |
| it-IT | Italian (Italy) | Stato di origine: Synonyms: Chimica Gene NBS Identificatore Punto nel tempo (episodio) |
| nl-NL | Dutch (Netherlands) | gesteldheid afgedrukt op filtreerpapierkaartje: |
| pt-BR | Portuguese (Brazil) | Estado de origem: Synonyms: Identifier; |
| ru-RU | Russian (Russian Federation) | Штат, напечатанный на фильтрующей бумажной карте: Synonyms: Идентификатор Номинальный; |
| tr-TR | Turkish (Turkey) | Filtre kağıdına basılmış durum: Synonyms: Yeni doğan tarama kartı |
| zh-CN | Chinese (China) | 印刷在滤纸卡片上的州名: Synonyms: 分类型应答; |
79566-6 Collection method - DBS
Term Description
The method used to collect a dried blood spot specimen, typically for newborn screening.
Source: Regenstrief LOINC
Observation Required in Panel
Optional
Fully-Specified Name
- Component
- Collection method
- Property
- Type
- Time
- Pt
- System
- Bld.dot
- Scale
- Nom
- Method
Additional Names
- Short Name
- Collection method DBS
- Display Name
- Collection method Nom (DBS)
- Consumer Name Alpha Get Info
- Collection method, Dried blood spot
Basic Attributes
- Class
- SPEC
- Type
- Laboratory
- First Released
- Version 2.54
- Last Updated
- Version 2.61
- Order vs. Observation
- Observation
Preferred Answer List LL3860-5
| Answer | Code | Score | Answer ID |
|---|---|---|---|
| Heel stick | LA25402-1 | ||
| Capillary tube | LA25403-9 | ||
| Line draw | LA25404-7 | ||
| Other | LA46-8 | ||
| Unknown Copyright http://snomed.info/sct ID:261665006 Unknown (qualifier value) | LA4489-6 |
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
| 57794-0 | Newborn screening test results panel - DBS |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Método de recolección: |
| es-MX | Spanish (Mexico) | Método de recolección: |
| et-EE | Estonian (Estonia) | Kogumise meetod: Synonyms: Juhuslik Veri |
| fr-CA | French (Canada) | Méthode de prélèvement: |
| fr-FR | French (France) | Méthode du recueil: |
| fr-BE | French (Belgium) | Méthode de prélèvement: |
| it-IT | Italian (Italy) | Raccolta, metodo: Synonyms: Caratteristiche campione Metodo di collezionamento Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | verzamelmethode: |
| ru-RU | Russian (Russian Federation) | Изъятия метод: Synonyms: Кровь Кровь сухая капля Номинальный; |
| tr-TR | Turkish (Turkey) | Toplama yöntemi: Synonyms: Tür |
| zh-CN | Chinese (China) | 采集方法: Synonyms: 全血斑点(滤纸); |
Third Party Copyright
This material includes SNOMED Clinical Terms® (SNOMED CT®) which is used by permission of the International Health Terminology Standards Development Organisation (IHTSDO) under license. All rights reserved. SNOMED CT® was originally created by The College of American Pathologists. "SNOMED" and "SNOMED CT" are registered trademarks of the IHTSDO.
This material includes content from the US Edition to SNOMED CT, which is developed and maintained by the U.S. National Library of Medicine and is available to authorized UMLS Metathesaurus Licensees from the UTS Downloads site at https://uts.nlm.nih.gov.
Use of SNOMED CT content is subject to the terms and conditions set forth in the SNOMED CT Affiliate License Agreement. It is the responsibility of those implementing this product to ensure they are appropriately licensed and for more information on the license, including how to register as an Affiliate Licensee, please refer to http://www.snomed.org/snomed-ct/get-snomed-ct or info@snomed.org<mailto:info@snomed.org>. This may incur a fee in SNOMED International non-Member countries.
8339-4 Birthweight
Observation Required in Panel
Required
Fully-Specified Name
- Component
- Body weight^at birth
- Property
- Mass
- Time
- Pt
- System
- ^Patient
- Scale
- Qn
- Method
- Measured
Additional Names
- Short Name
- Birth weight Measured
- Consumer Name Alpha Get Info
- Birth Weight
Basic Attributes
- Class
- BDYWGT.MOLEC
- Type
- Clinical
- First Released
- Version 1.0h(2)
- Last Updated
- Version 2.73
- Common Test Rank Get Info
- 6750
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 39294-4 | Children's preventive health services attachment Set |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
| 57794-0 | Newborn screening test results panel - DBS |
| 86347-2 | U.S. standard certificate of live birth - recommended 2003 revision set |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| de-DE | German (Germany) | Körpergewicht^bei Geburt: |
| es-MX | Spanish (Mexico) | Peso corporal ^ al nacer: |
| es-AR | Spanish (Argentina) | peso corporal^al nacimiento: |
| fr-FR | French (France) | Poids corporel à la naissance: |
| it-IT | Italian (Italy) | Peso corporeo^alla nascita: Synonyms: paziente Peso del corpo - molecolare Punto nel tempo (episodio) |
| nl-NL | Dutch (Netherlands) | lichaamsgewicht^bij geboorte: |
| pt-BR | Portuguese (Brazil) | Peso corpóreo^no nascimento: Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Масса тела^при рождении: Synonyms: Количественный Точка во времени; |
| zh-CN | Chinese (China) | 体重^出生时: Synonyms: 医疗服务对象; |
Example Units
| Unit | Source |
|---|---|
| [lb_av];kg;g | Example UCUM Units |
| lb | REGENSTRIEF |
58229-6 Body weight Measured --when specimen taken
Term Description
requested as option in new born screening for interpretation of NBS results which may vary with infants weight at the time of the specimen which might be different enough from birth weight to be important.
Source: Regenstrief LOINC
Observation Required in Panel
Optional
Fully-Specified Name
- Component
- Body weight^when specimen taken
- Property
- Mass
- Time
- Pt
- System
- ^Patient
- Scale
- Qn
- Method
- Measured
Additional Names
- Short Name
- Weight when spec taken Measured
- Consumer Name Alpha Get Info
- Body weight When specimen Taken, Measured
Basic Attributes
- Class
- CLIN
- Type
- Clinical
- First Released
- Version 2.30
- Last Updated
- Version 2.70
- Order vs. Observation
- Observation
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
| 57794-0 | Newborn screening test results panel - DBS |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-MX | Spanish (Mexico) | Peso corporal ^ cuando se toma la muestra: |
| it-IT | Italian (Italy) | Peso corporeo^quando è prelevato il campione: Synonyms: Clinico paziente Punto nel tempo (episodio) |
| pt-BR | Portuguese (Brazil) | Peso corporal^quando a amostra é utilizada: Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Масса тела^когда образец изъят: Synonyms: Количественный Точка во времени; |
| zh-CN | Chinese (China) | 体重^采集标本时: Synonyms: 医疗服务对象; |
Example Units
| Unit | Source |
|---|---|
| [lb_av];kg | Example UCUM Units |
57715-5 Time of birth
Observation Required in Panel
Required
Fully-Specified Name
- Component
- Birth time
- Property
- ClockTime
- Time
- Pt
- System
- ^Patient
- Scale
- Qn
- Method
Additional Names
- Short Name
- Birth time
Basic Attributes
- Class
- H&P.HX
- Type
- Clinical
- First Released
- Version 2.29
- Last Updated
- Version 2.73
- Order vs. Observation
- Observation
- Common Test Rank Get Info
- 4314
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
| 57794-0 | Newborn screening test results panel - DBS |
| 75854-0 | PCORnet common data model set - version 1.0 [PCORnet] |
| 85057-8 | PCORnet Common Data Model set - version 3.0 [PCORnet] |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-MX | Spanish (Mexico) | Hora de nacimiento: |
| it-IT | Italian (Italy) | Nascita, ora: Synonyms: Anamnesi Ora Ora di nascita paziente Punto nel tempo (episodio) |
| pt-BR | Portuguese (Brazil) | Tempo de Nascimento: Synonyms: Point in time; |
| ru-RU | Russian (Russian Federation) | Рождение время: Synonyms: Время рождения Время, измеренное при помощи хронометра (часов) Количественный Точка во времени; |
| zh-CN | Chinese (China) | 出生时间: Synonyms: 医疗服务对象; |
Example Units
| Unit | Source |
|---|---|
| {clock_time} | Example UCUM Units |
73806-2 Newborn age in hours
Term Description
Age of the newborn reported in hours.
Source: Regenstrief LOINC
Observation Required in Panel
Optional
Fully-Specified Name
- Component
- Newborn age in hours
- Property
- Time
- Time
- Pt
- System
- ^Patient
- Scale
- Qn
- Method
Additional Names
- Short Name
- Nwbrn age hours
Basic Attributes
- Class
- H&P.PX
- Type
- Clinical
- First Released
- Version 2.44
- Last Updated
- Version 2.52
- Order vs. Observation
- Observation
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
| 57794-0 | Newborn screening test results panel - DBS |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-MX | Spanish (Mexico) | Edad del recién nacido en horas: |
| it-IT | Italian (Italy) | Neonato, età in ore: Synonyms: Esame obbiettivo Età in ore del neonato paziente Punto nel tempo (episodio) Tempo (e.g. secondi) |
| ru-RU | Russian (Russian Federation) | Новорождённый возраст в часах: Synonyms: Время (в т.ч. в секундах) Количественный Точка во времени; |
| zh-CN | Chinese (China) | 按小时数计算的新生儿年龄: Synonyms: 体格检查小节与指标; |
Example Units
| Unit | Source |
|---|---|
| h | Example UCUM Units |
57722-1 Birth plurality of Pregnancy
Term Description
The number of fetuses delivered live or dead at any time in the pregnancy regardless of gestational age or if the fetuses were delivered at different dates in the pregnancy.
Source: Regenstrief LOINC
Observation Required in Panel
Required
Fully-Specified Name
- Component
- Birth plurality
- Property
- Num
- Time
- Pt
- System
- Pregnancy
- Scale
- Ord
- Method
Additional Names
- Short Name
- Birth plurality
Basic Attributes
- Class
- H&P.PX
- Type
- Clinical
- First Released
- Version 2.29
- Last Updated
- Version 2.73
- Common Test Rank Get Info
- 10871
Normative Answer List LL829-3
| Answer | Code | Score | Answer ID |
|---|---|---|---|
| 1 | 1 | LA6112-2 | |
| 2 or more | 2 | LA6113-0 | |
| 3 | 3 | LA6114-8 | |
| 4 | 4 | LA6115-5 | |
| 5 | 5 | LA10137-0 | |
| 6 | 6 | LA10138-8 | |
| 7 | 7 | LA10139-6 | |
| 8 | 8 | LA10140-4 | |
| 9 | 9 | LA10141-2 | |
| 10 | 10 | LA13942-0 | |
| 11 | 11 | LA14557-5 | |
| 12 | 12 | LA14558-3 | |
| Unknown plurality | 99 | LA12914-0 |
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
| 57794-0 | Newborn screening test results panel - DBS |
| 86347-2 | U.S. standard certificate of live birth - recommended 2003 revision set |
| 86346-4 | U.S. standard report of fetal death - recommended 2003 revision set |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-MX | Spanish (Mexico) | Pluralidad de nacimiento: |
| it-IT | Italian (Italy) | Nascita, pluralità: Synonyms: Esame obbiettivo Numero (conta) Pluralità di nascita Punto nel tempo (episodio) |
| pt-BR | Portuguese (Brazil) | Nascimentos múltiplos: Synonyms: Birth pleurality; |
| ru-RU | Russian (Russian Federation) | Рождение множественность: Synonyms: Количество Порядковый Точка во времени; |
| zh-CN | Chinese (China) | 出生胎儿数量: Synonyms: 个数; |
57714-8 Obstetric estimation of gestational age
Term Description
The obstetric estimate of the infant's gestation in completed weeks based on the birth attendant's final estimate of gestation which should be determined by all perinatal factors and assessments such as ultrasound, but not the neonatal exam.
Source: Regenstrief LOINC
Observation Required in Panel
Required
Fully-Specified Name
- Component
- Obstetric estimation of gestational age
- Property
- Time
- Time
- Pt
- System
- ^Patient
- Scale
- Qn
- Method
Additional Names
- Short Name
- OB est of GA
Basic Attributes
- Class
- H&P.HX
- Type
- Clinical
- First Released
- Version 2.29
- Last Updated
- Version 2.73
- Order vs. Observation
- Observation
- Common Test Rank Get Info
- 15375
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
| 57794-0 | Newborn screening test results panel - DBS |
Member of these Groups Get Info
| LOINC Group | Group Name |
|---|---|
| LG50113-6 | Gestational ageTime^Patient |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-MX | Spanish (Mexico) | Estimación obstétrica de la edad gestacional: |
| it-IT | Italian (Italy) | Stima ostetrica di età gestazionale: Synonyms: Anamnesi paziente Punto nel tempo (episodio) Tempo (e.g. secondi) |
| pt-BR | Portuguese (Brazil) | Estimativa obstétrica da idade gestacional: Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Акушерская оценка гестационный возраст: Synonyms: Время (в т.ч. в секундах) Гестационный срок Количественный Точка во времени; |
| zh-CN | Chinese (China) | 孕龄的产科学估计: Synonyms: 医疗服务对象; |
Example Units
| Unit | Source |
|---|---|
| wk | Example UCUM Units |
57713-0 Infant factors that affect newborn screening interpretation
Term Description
Use this term to record various infant factors (also known as events), including treatments or conditions, that occur prior to collection of the newborn screening (NBS) specimen, and can affect the interpretation of NBS results. Select any answers that apply; you can select more than one answer. If you select "other," use the additional narrative LOINC code for "Other infant factors that affect newborn screening interpretation" to give additional details. Select the answer "Infant in ICU at time of specimen collection" if the infant was in an intensive care unit, neonatal intensive care unit (NICU) or special care baby unit (SCBU). ECMO (extra corporeal membrane oxygenation, aka heart-lung bypass) can affect NBS results for hemoglobinopathies and GALT. Dopamine can affect NBS results for TSH. Steroid treatment can affect NBS results for TSH and 17-OHP. Iodine can affect NBS results for TSH and T4. Antibiotics can affect NBS results for C5. Some anti-seizure medications can affect NBS results for fatty acids. In screening for cystic fibrosis (CF), those babies presenting with meconium ileus or other bowel obstruction often have falsely low IRT's, so some states when they have that information, skip the IRT and go directly to DNA for their screen. SOURCES: Newborn Screening Guidelines for Preterm, Low Birth Weight, and Sick Newborns; Approved Guideline. CLSI document I/LA31-A. Wayne, PA: Clinical and Laboratory Standards Institute; (2009). LABORATORY MEDICINE PRACTICE GUIDELINES: FOLLOW-UP TESTING FOR METABOLIC DISEASES IDENTIFIED BY EXPANDED NEWBORN SCREENING USING TANDEM MASS SPECTROMETRY, The National Academy of Clinical Biochemistry, 2009 http://www.aacc.org/members/nacb/lmpg/onlineguide/publishedguidelines/newborn/pages/default.aspx. Utah Department of Health's "Newborn Screening For Sick or Preterm Newborns" Available at: http://health.utah.gov/newbornscreening/PDF/SupportProcScreeningSickPreterm.pdf.
Source: Regenstrief LOINC
Observation Required in Panel
Required
Fully-Specified Name
- Component
- Infant factors that affect newborn screening interpretation
- Property
- Find
- Time
- Pt
- System
- ^Patient
- Scale
- Nom
- Method
Additional Names
- Short Name
- Inf factors affecting NBS imp
Basic Attributes
- Class
- H&P.HX
- Type
- Clinical
- First Released
- Version 2.29
- Last Updated
- Version 2.73
- Change Reason
- Changed answer list from "Normative" to "Preferred" to fit the current LOINC model.; Removed "NICU" from Component based on recommendation from APHL NBS workgroup because this term could also be used for infants that are not in the NICU
- Order vs. Observation
- Observation
- Common Test Rank Get Info
- 18287
Preferred Answer List LL830-1
| Answer | Code | Score | Answer ID |
|---|---|---|---|
| None Copyright http://snomed.info/sct ID:260413007 None (qualifier value) | LA137-2 | ||
| Infant in NICU at time of specimen collection | LA12419-0 | ||
| Infant in special care setting (other than ICU) at time of specimen collection | LA25801-4 | ||
| Preterm/Low birth weight (LBW) | LA25802-2 | ||
| Any blood product transfusion (including ECLS/ECMO) | LA12417-4 | ||
| Dopamine Copyright http://snomed.info/sct ID:412383006 Dopamine (substance) | LA16923-7 | ||
| Topical iodine | LA16924-5 | ||
| Acute illness | LA25803-0 | ||
| Hypothyroxinemia of preterm birth | LA25804-8 | ||
| Significant hypoxia | LA25812-1 | ||
| Immature hypothalamic/pituitary axis | LA25805-5 | ||
| Immature liver enzymes | LA25806-3 | ||
| Immature renal system | LA25807-1 | ||
| Iodine deficiency | LA25809-7 | ||
| Liver disease | LA25810-5 | ||
| Other conditions, such as biliary atresia, intestinal perforation, abdominal wall defects, septicemia, CMV, renal failure, T21, T18, T13 | LA25811-3 | ||
| Parenteral steroid treatment | LA16925-2 | ||
| Systemic antibiotics before newborn screening | LA12420-8 | ||
| Meconium ileus or other bowel obstruction | LA16927-8 | ||
| Thoracic surgery involving thymectomy | LA25815-4 | ||
| Immunosuppressive therapy of baby or mother | LA25808-9 | ||
| Total parenteral nutrition (TPN) or similar feeding | LA25816-2 | ||
| Special lactose-free diet | LA25813-9 | ||
| Special low protein diet | LA25814-7 | ||
| Other | LA46-8 |
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
| 57794-0 | Newborn screening test results panel - DBS |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-MX | Spanish (Mexico) | Factores infantiles que afectan la interpretación del cribado neonatal: |
| it-IT | Italian (Italy) | Fattori di unità di cura infantile neonatale che influenzano interpretazione di screening neonatale: Synonyms: Anamnesi Osservazione paziente Punto nel tempo (episodio) |
| pt-BR | Portuguese (Brazil) | Os eventos clínicos que afetam a interpretação de triagem neonatal: Synonyms: Interp; |
| ru-RU | Russian (Russian Federation) | Младенец NICU факторы, которые влияют на новорождённого скрининга интерпретацию: Synonyms: Номинальный; |
| zh-CN | Chinese (China) | 影响新生儿筛查解释的婴儿因素: Synonyms: Asympt SCN 分类型应答; |
Third Party Copyright
This material includes SNOMED Clinical Terms® (SNOMED CT®) which is used by permission of the International Health Terminology Standards Development Organisation (IHTSDO) under license. All rights reserved. SNOMED CT® was originally created by The College of American Pathologists. "SNOMED" and "SNOMED CT" are registered trademarks of the IHTSDO.
This material includes content from the US Edition to SNOMED CT, which is developed and maintained by the U.S. National Library of Medicine and is available to authorized UMLS Metathesaurus Licensees from the UTS Downloads site at https://uts.nlm.nih.gov.
Use of SNOMED CT content is subject to the terms and conditions set forth in the SNOMED CT Affiliate License Agreement. It is the responsibility of those implementing this product to ensure they are appropriately licensed and for more information on the license, including how to register as an Affiliate Licensee, please refer to http://www.snomed.org/snomed-ct/get-snomed-ct or info@snomed.org<mailto:info@snomed.org>. This may incur a fee in SNOMED International non-Member countries.
67703-9 Other infant factors that affect newborn screening interpretation Narrative
Condition for Inclusion
Use this term to give additional detail if you select answer "Other" (LA46-8) for Infant NICU factors that affect newborn screening interpretation (57713-0).
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Other infant factors that affect newborn screening interpretation
- Property
- Find
- Time
- Pt
- System
- ^Patient
- Scale
- Nar
- Method
Additional Names
- Short Name
- Other Inf factors affecting NBS imp
Basic Attributes
- Class
- H&P.HX
- Type
- Clinical
- First Released
- Version 2.38
- Last Updated
- Version 2.58
- Change Reason
- Removed "NICU" from Component based on recommendation from APHL NBS workgroup because this term could also be used for infants that are not in the NICU
- Order vs. Observation
- Observation
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
| 57794-0 | Newborn screening test results panel - DBS |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-MX | Spanish (Mexico) | Otros factores infantiles que afectan la interpretación del cribado neonatal: |
| it-IT | Italian (Italy) | Altri fattori UTIN che influenzano interpretazione screening neonatale: Synonyms: Altri fattori di Unità di Terapia Intensiva Neonat Anamnesi Osservazione paziente Punto nel tempo (episodio) |
| ru-RU | Russian (Russian Federation) | Другие младенец NICU факторы, которые влияют на новорождённого скрининга интерпретацию: Synonyms: Описательный Точка во времени; |
| zh-CN | Chinese (China) | 影响新生儿筛查解释的其他婴儿因素: Synonyms: Asympt SCN 其他的 其它 其它的 判读; |
67706-2 Maternal factors that affect newborn screening interpretation
Term Description
Use this term to record various maternal factors (also known as events), including treatments applied to the newborn's mother or conditions that affect the newborn's mother, that can affect the interpretation of NBS results. Select any answers that apply; you can select more than one answer. If you select "other," use the additional narrative LOINC code for "Other maternal factors that affect newborn screening interpretation" to give additional details. Thyroid treatments (PTU - propylthiouracil, methimazole (tapazole), and radioactive iodine (I-131)) can affect NBS results for T4 and TSH. Steroid treatment (prednisone, betamethasone, dexamethasone) can affect NBS results for 17-OHP. Fatty liver of pregnancy and HELLP syndrome can affect NBS results for acylcarnitines. TPN can affect NBS results for amino acids and fatty acids. PRBC (packed red blood cell) transfusion can affect NBS results for GALT and hemoglobin. SOURCES: Newborn Screening Guidelines for Preterm, Low Birth Weight, and Sick Newborns; Approved Guideline. CLSI document I/LA31-A. Wayne, PA: Clinical and Laboratory Standards Institute; (2009). LABORATORY MEDICINE PRACTICE GUIDELINES: FOLLOW-UP TESTING FOR METABOLIC DISEASES IDENTIFIED BY EXPANDED NEWBORN SCREENING USING TANDEM MASS SPECTROMETRY, The National Academy of Clinical Biochemistry, 2009 http://www.aacc.org/members/nacb/lmpg/onlineguide/publishedguidelines/newborn/pages/default.aspx. Utah Department of Health's "Newborn Screening For Sick or Preterm Newborns" Available at: http://health.utah.gov/newbornscreening/PDF/SupportProcScreeningSickPreterm.pdf.
Source: Regenstrief LOINC
Observation Required in Panel
Optional
Fully-Specified Name
- Component
- Maternal factors that affect newborn screening interpretation
- Property
- Find
- Time
- Pt
- System
- ^Mother
- Scale
- Nom
- Method
Additional Names
- Short Name
- Mat factors affecting NBS imp
Basic Attributes
- Class
- H&P.HX
- Type
- Clinical
- First Released
- Version 2.38
- Last Updated
- Version 2.56
- Change Reason
- Changed answer list from "Normative" to "Preferred" to fit the current LOINC model.
- Order vs. Observation
- Observation
Preferred Answer List LL1736-9
| Answer | Code | Score | Answer ID |
|---|---|---|---|
| None Copyright http://snomed.info/sct ID:260413007 None (qualifier value) | LA137-2 | ||
| HELLP syndrome | LA16928-6 | ||
| Fatty liver of pregnancy | LA16929-4 | ||
| Packed red blood cell (PRBC) transfusion | LA16930-2 | ||
| Steroid treatment | LA16931-0 | ||
| Thyroid treatment (including propylthiouracil (PTU), methimazole (Tapazole), or past treatment with radioactive iodine (I-131)) | LA16932-8 | ||
| TPN | LA12418-2 | ||
| Other | LA46-8 |
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
| 57794-0 | Newborn screening test results panel - DBS |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-MX | Spanish (Mexico) | Factores maternos que afectan la interpretación del cribado neonatal: |
| it-IT | Italian (Italy) | Fattori materni che influenzano l'interpretazione di screening neonatale: Synonyms: Anamnesi Osservazione Punto nel tempo (episodio) |
| ru-RU | Russian (Russian Federation) | Мать факторы, которые влияют на новорождённый скрининг интерпретация: Synonyms: Номинальный; |
| zh-CN | Chinese (China) | 影响新生儿筛查解释的产妇因素: Synonyms: Asympt SCN 产妇; |
Third Party Copyright
This material includes SNOMED Clinical Terms® (SNOMED CT®) which is used by permission of the International Health Terminology Standards Development Organisation (IHTSDO) under license. All rights reserved. SNOMED CT® was originally created by The College of American Pathologists. "SNOMED" and "SNOMED CT" are registered trademarks of the IHTSDO.
This material includes content from the US Edition to SNOMED CT, which is developed and maintained by the U.S. National Library of Medicine and is available to authorized UMLS Metathesaurus Licensees from the UTS Downloads site at https://uts.nlm.nih.gov.
Use of SNOMED CT content is subject to the terms and conditions set forth in the SNOMED CT Affiliate License Agreement. It is the responsibility of those implementing this product to ensure they are appropriately licensed and for more information on the license, including how to register as an Affiliate Licensee, please refer to http://www.snomed.org/snomed-ct/get-snomed-ct or info@snomed.org<mailto:info@snomed.org>. This may incur a fee in SNOMED International non-Member countries.
67707-0 Other maternal factors that affect newborn screening interpretation Narrative
Condition for Inclusion
Use this term to give additional detail if you select answer "Other" (LA46-8) for Maternal factors that affect newborn screening interpretation (67706-2).
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Other maternal factors that affect newborn screening interpretation
- Property
- Find
- Time
- Pt
- System
- ^Mother
- Scale
- Nar
- Method
Additional Names
- Short Name
- Other mat factors affecting NBS imp
Basic Attributes
- Class
- H&P.HX
- Type
- Clinical
- First Released
- Version 2.38
- Last Updated
- Version 2.48
- Order vs. Observation
- Observation
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
| 57794-0 | Newborn screening test results panel - DBS |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-MX | Spanish (Mexico) | Otros factores maternos que afectan la interpretación del cribado neonatal: |
| it-IT | Italian (Italy) | Altri fattori materni che influenzano interpretazione screening neonatale: Synonyms: Altri fattori materni che influenzano l''interpret Anamnesi Osservazione Punto nel tempo (episodio) |
| ru-RU | Russian (Russian Federation) | Другие мать факторы, которые влияют на новорождённый скрининг интерпретация: Synonyms: Описательный Точка во времени; |
| zh-CN | Chinese (China) | 影响新生儿筛查解释的其他产妇因素: Synonyms: Asympt SCN 产妇; |
77739-1 Mother's Hepatitis B virus surface Ag status
Term Description
This term should be used to report the birth mother's Hepatitis B surface antigen status.
Source: Regenstrief LOINC
Part Descriptions
LP14820-2 Hepatitis B virus surface
The hepatitis B surface antigen (HBsAg) is most frequently used to screen for the presence of this infection. It is the first detectable viral antigen to appear during infection. However, early in an infection, this antigen may not be present and it may be undetectable later in the infection as it is being cleared by the host. The infectious virion contains an inner "core particle" enclosing viral genome. The icosahedral core particle is made of 180 or 240 copies of core protein, alternatively known as hepatitis B core antigen, or HBcAg. During this 'window' in which the host remains infected but is successfully clearing the virus, IgM antibodies to the hepatitis B core antigen (anti-HBc IgM) may be the only serological evidence of disease. Therefore most hepatitis B diagnostic panels contain HBsAg and total anti-HBc(both IgM and IgG).
Copyright Text is available under the Creative Commons Attribution/Share-Alike License. See http://creativecommons.org/licenses/by-sa/3.0/ for details.
Source: Wikipedia, Hepatitis B Virus
Condition for Inclusion
This term should be used in the context of the card data panel if maternal Hep B surface Ag result is included on the DBS card
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Hepatitis B virus surface Ag
- Property
- PrThr
- Time
- Pt
- System
- ^Mother
- Scale
- Ord
- Method
Additional Names
- Short Name
- Mother's HBV surface Ag Ql
- Display Name
- HBV surface Ag Ql (Mother)
- Consumer Name Alpha Get Info
- Hepatitis B virus (HBV) Surface antigen, Mother
Basic Attributes
- Class
- MICRO
- Type
- Laboratory
- First Released
- Version 2.52
- Last Updated
- Version 2.56
- Change Reason
- The PrThr property is used for LOINC terms whose results are reported using an ordered categorical scale, regardless of whether or not an internal threshold was used to make that determination. This change was approved by the Laboratory LOINC Committee in June 2016.
- Order vs. Observation
- Both
Preferred Answer List LL3639-3
| Answer | Code | Score | Answer ID |
|---|---|---|---|
| Positive Copyright http://snomed.info/sct ID:10828004 Positive (qualifier value) | LA6576-8 | ||
| Negative Copyright http://snomed.info/sct ID:260385009 Negative (qualifier value) | LA6577-6 | ||
| Not tested | LA13538-6 | ||
| Unknown Copyright http://snomed.info/sct ID:261665006 Unknown (qualifier value) | LA4489-6 |
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
| 57794-0 | Newborn screening test results panel - DBS |
Member of these Groups Get Info
| LOINC Group | Group Name |
|---|---|
| LG32752-4 | Hepatitis B virus |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| de-DE | German (Germany) | Hepatitis-B-Virus-surface Ag: Synonyms: Hepatitis-B-Virus-surface; |
| es-ES | Spanish (Spain) | Antígeno de superficie virus Hepatitis B Antígeno: |
| es-MX | Spanish (Mexico) | Ag de superficie del virus de la hepatitis B: |
| fr-FR | French (France) | Hépatite B virus surface Ag: |
| it-IT | Italian (Italy) | Epatite B virus, superficie, Ag: Synonyms: HBV Microbiologia Presenza o Soglia Punto nel tempo (episodio) Superficie del virus dell''epatite B |
| nl-NL | Dutch (Netherlands) | Hepatitis B-virusoppervlakte Ag: Synonyms: antigeen |
| pl-PL | Polish (Poland) | Powierzchnia wirusa zapalenia wątroby typu B Ag: Synonyms: Antygen powierzchniowy wirusa zapalenia wątroby typu B |
| ru-RU | Russian (Russian Federation) | Гепатита В вируса поверхностный Аг: Synonyms: Порядковый Точка во времени; |
| tr-TR | Turkish (Turkey) | Hepatit B virüsü yüzey Ag: Synonyms: Antijen Mevcut |
| zh-CN | Chinese (China) | 乙型肝炎病毒表面 抗原: Synonyms: Ag B 型 HBs Ag HBs 抗原 HBs; |
Third Party Copyright
This material includes SNOMED Clinical Terms® (SNOMED CT®) which is used by permission of the International Health Terminology Standards Development Organisation (IHTSDO) under license. All rights reserved. SNOMED CT® was originally created by The College of American Pathologists. "SNOMED" and "SNOMED CT" are registered trademarks of the IHTSDO.
This material includes content from the US Edition to SNOMED CT, which is developed and maintained by the U.S. National Library of Medicine and is available to authorized UMLS Metathesaurus Licensees from the UTS Downloads site at https://uts.nlm.nih.gov.
Use of SNOMED CT content is subject to the terms and conditions set forth in the SNOMED CT Affiliate License Agreement. It is the responsibility of those implementing this product to ensure they are appropriately licensed and for more information on the license, including how to register as an Affiliate Licensee, please refer to http://www.snomed.org/snomed-ct/get-snomed-ct or info@snomed.org<mailto:info@snomed.org>. This may incur a fee in SNOMED International non-Member countries.
57712-2 Highest level of education Mother
Term Description
Record the highest degree or level of school completed at the time of delivery.
Source: Regenstrief LOINC
Part Descriptions
LP72877-1 Highest level of education
The highest level of education attained.
Source: Centers for Disease Control and Prevention
Observation Required in Panel
Optional
Fully-Specified Name
- Component
- Highest level of education
- Property
- Hx
- Time
- Pt
- System
- ^Mother
- Scale
- Ord
- Method
Additional Names
- Short Name
- Highest level of education Mother
Basic Attributes
- Class
- H&P.HX
- Type
- Clinical
- First Released
- Version 2.29
- Last Updated
- Version 2.63
- Change Reason
- Changed Component from Mother's education to Highest level of education to match the pattern other level of education terms, such as 80913-7
- Order vs. Observation
- Observation
Normative Answer List LL836-8
| Answer | Code | Score | Answer ID |
|---|---|---|---|
| 8th grade/less | LA36-9 | ||
| 9th - 12th grade, no diploma | LA12456-2 | ||
| High school graduate or GED completed | LA12457-0 | ||
| Some college credit but no degree | LA12458-8 | ||
| Associate degree (e.g., AA, AS) | LA12459-6 | ||
| Bachelor's degree (e.g., BA, AB, BS) | LA12460-4 | ||
| Master's degree (e.g., MA, MS, MEng, MEd, MSW, MBA) | LA12461-2 | ||
| Doctorate (e.g., PhD, EdD) or Professional degree (e.g., MD, DDS, DVM, LLB, JD) | LA12462-0 | ||
| Unknown Copyright http://snomed.info/sct ID:261665006 Unknown (qualifier value) | LA4489-6 |
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
| 57794-0 | Newborn screening test results panel - DBS |
| 63009-5 | PhenX domain - Social environments |
Member of these Groups Get Info
| LOINC Group | Group Name |
|---|---|
| LG51306-5 | SDOH |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-MX | Spanish (Mexico) | El mas alto nivel de educación: |
| it-IT | Italian (Italy) | Livello più elevato di istruzione: Synonyms: Anamnesi Punto nel tempo (episodio) Storia; |
| pt-BR | Portuguese (Brazil) | Educação da mãe: Synonyms: History; |
| ru-RU | Russian (Russian Federation) | Уровень образования: Synonyms: История Порядковый Точка во времени; |
| zh-CN | Chinese (China) | 文化程度: Synonyms: 产妇; |
Third Party Copyright
This material includes SNOMED Clinical Terms® (SNOMED CT®) which is used by permission of the International Health Terminology Standards Development Organisation (IHTSDO) under license. All rights reserved. SNOMED CT® was originally created by The College of American Pathologists. "SNOMED" and "SNOMED CT" are registered trademarks of the IHTSDO.
This material includes content from the US Edition to SNOMED CT, which is developed and maintained by the U.S. National Library of Medicine and is available to authorized UMLS Metathesaurus Licensees from the UTS Downloads site at https://uts.nlm.nih.gov.
Use of SNOMED CT content is subject to the terms and conditions set forth in the SNOMED CT Affiliate License Agreement. It is the responsibility of those implementing this product to ensure they are appropriately licensed and for more information on the license, including how to register as an Affiliate Licensee, please refer to http://www.snomed.org/snomed-ct/get-snomed-ct or info@snomed.org<mailto:info@snomed.org>. This may incur a fee in SNOMED International non-Member countries.
67704-7 Feeding types
Term Description
Use this term to record the feeding types the infant consumed prior to collection of the newborn screening specimen. Select any answers that apply; you can select more than one answer. If you select "other," use the additional narrative LOINC code for "Other feeding types" to give additional details. Total Parenteral Nutrition (TPN) can affect NBS results for amino acids, and possibly for acylcarnitines if TPN includes carnitine. Carnitine can affect NBS results for acylcarnitines. MCT oil can affect NBS results for fatty acids. IV dextrose can affect NBS results for C16-OH carnitine. SOURCES: Newborn Screening Guidelines for Preterm, Low Birth Weight, and Sick Newborns; Approved Guideline. CLSI document I/LA31-A. Wayne, PA: Clinical and Laboratory Standards Institute; (2009). Martinez JA, Ballew MP. Infant Formulas. Pediatr Rev 2011 May;32(5):179-89.
Source: Regenstrief LOINC
Observation Required in Panel
Required
Fully-Specified Name
- Component
- Feeding types
- Property
- Find
- Time
- Pt
- System
- ^Patient
- Scale
- Nom
- Method
Additional Names
- Short Name
- Feeding types
Basic Attributes
- Class
- H&P.HX
- Type
- Clinical
- First Released
- Version 2.38
- Last Updated
- Version 2.73
- Order vs. Observation
- Observation
- Common Test Rank Get Info
- 18491
Normative Answer List LL1735-1
| Answer | Code | Score | Answer ID |
|---|---|---|---|
| Breast milk | LA16914-6 | ||
| Lactose formula | LA16915-3 | ||
| Lactose free formula (including soy or hydrolyzed) | LA14041-0 | ||
| NPO | LA16917-9 | ||
| TPN | LA12418-2 | ||
| Carnitine Copyright http://snomed.info/sct ID:59888006 Carnitine (substance) | LA16918-7 | ||
| MCT (medium-chain triglyceride) oil | LA16919-5 | ||
| IV dextrose | LA16920-3 | ||
| Other | LA46-8 | ||
| None Copyright http://snomed.info/sct ID:260413007 None (qualifier value) | LA137-2 | ||
| Unknown Copyright http://snomed.info/sct ID:261665006 Unknown (qualifier value) | LA4489-6 |
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
| 57794-0 | Newborn screening test results panel - DBS |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-MX | Spanish (Mexico) | Tipos de alimentación: |
| fr-FR | French (France) | Types de repas: |
| it-IT | Italian (Italy) | Alimentazione, tipi: Synonyms: Anamnesi Osservazione paziente Punto nel tempo (episodio) Tipi di alimentazione |
| ru-RU | Russian (Russian Federation) | Кормления типы: Synonyms: Номинальный; |
| zh-CN | Chinese (China) | 喂养类型: Synonyms: 分类型应答; |
Third Party Copyright
This material includes SNOMED Clinical Terms® (SNOMED CT®) which is used by permission of the International Health Terminology Standards Development Organisation (IHTSDO) under license. All rights reserved. SNOMED CT® was originally created by The College of American Pathologists. "SNOMED" and "SNOMED CT" are registered trademarks of the IHTSDO.
This material includes content from the US Edition to SNOMED CT, which is developed and maintained by the U.S. National Library of Medicine and is available to authorized UMLS Metathesaurus Licensees from the UTS Downloads site at https://uts.nlm.nih.gov.
Use of SNOMED CT content is subject to the terms and conditions set forth in the SNOMED CT Affiliate License Agreement. It is the responsibility of those implementing this product to ensure they are appropriately licensed and for more information on the license, including how to register as an Affiliate Licensee, please refer to http://www.snomed.org/snomed-ct/get-snomed-ct or info@snomed.org<mailto:info@snomed.org>. This may incur a fee in SNOMED International non-Member countries.
67705-4 Other feeding types Narrative
Condition for Inclusion
Use this term to give additional detail if you select answer "Other" (LA46-8) for Feeding Types (67704-7).
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Other feeding types
- Property
- Find
- Time
- Pt
- System
- ^Patient
- Scale
- Nar
- Method
Additional Names
- Short Name
- Other feeding types
Basic Attributes
- Class
- H&P.HX
- Type
- Clinical
- First Released
- Version 2.38
- Last Updated
- Version 2.40
- Order vs. Observation
- Observation
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
| 57794-0 | Newborn screening test results panel - DBS |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-MX | Spanish (Mexico) | Otros tipos de alimentación: |
| it-IT | Italian (Italy) | Altri tipi di alimentazione: Synonyms: Anamnesi Osservazione paziente Punto nel tempo (episodio) Tipi di alimentazione |
| ru-RU | Russian (Russian Federation) | Другие кормления типы: Synonyms: Описательный Точка во времени; |
| zh-CN | Chinese (China) | 其他喂养类型: Synonyms: 其他喂养（喂食、 |
79569-0 Blood product given [Type]
Term Description
Use this term to record the blood transfusion types the infant received prior to collection of the newborn screening specimen. Select any answers that apply; you can select more than one answer.
Source: Regenstrief LOINC
Condition for Inclusion
If an infant was given a blood product, the type should be reported.
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Blood product given
- Property
- Type
- Time
- Pt
- System
- ^Patient
- Scale
- Nom
- Method
Additional Names
- Short Name
- Blood product Gvn Type
Basic Attributes
- Class
- H&P.HX
- Type
- Clinical
- First Released
- Version 2.54
- Last Updated
- Version 2.54
- Order vs. Observation
- Both
Preferred Answer List LL3859-7
| Answer | Code | Score | Answer ID |
|---|---|---|---|
| Blood product transfusion that includes Red Blood Cells (RBC) | LA25396-5 | ||
| Blood product transfusion that does NOT include Red Blood Cells (RBC) | LA25397-3 | ||
| Extracorporeal life support (ECLS)/Extracorporeal membrane oxygenation (ECMO) | LA25398-1 | ||
| Intrauterine Fetal Blood Transfusion that includes Red Blood Cells (RBC) | LA25399-9 | ||
| Intrauterine Fetal Blood Transfusion that does not includes Red Blood Cells (RBC) | LA25400-5 | ||
| Other blood product transfusion | LA25401-3 |
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
| 57794-0 | Newborn screening test results panel - DBS |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Producto de sangre dado: |
| es-MX | Spanish (Mexico) | Hemoderivado administrado: |
| it-IT | Italian (Italy) | Prodotto Sangue, somministrato: Synonyms: Anamnesi paziente Punto nel tempo (episodio) |
| zh-CN | Chinese (China) | 血液制品 给予的: Synonyms: 分类型应答; |
62317-3 Date of last blood product transfusion
Observation Required in Panel
Optional
Fully-Specified Name
- Component
- Date of last blood product transfusion
- Property
- TmStp
- Time
- Pt
- System
- ^Patient
- Scale
- Qn
- Method
Additional Names
- Short Name
- Date last blood product transfusion
Basic Attributes
- Class
- H&P.HX
- Type
- Clinical
- First Released
- Version 2.34
- Last Updated
- Version 2.36
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
| 57794-0 | Newborn screening test results panel - DBS |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-MX | Spanish (Mexico) | Fecha de la última transfusión de hemoderivados: |
| it-IT | Italian (Italy) | Data di ultima trasfusione prodotto sangue: Synonyms: Anamnesi paziente Punto nel tempo (episodio) Time stamp (Data e Ora) |
| ru-RU | Russian (Russian Federation) | Дата последнее переливание продукт крови: Synonyms: Time Stamp (Дата и Время) Количественный Точка во времени; |
| zh-CN | Chinese (China) | 末次血液制品输注日期: Synonyms: 医疗服务对象; |
58232-0 Hearing loss risk indicators [Identifier]
Term Description
This question should be answered as part of the order and/or result of new born screen for hearing loss. It is intended to capture the risk factors identified by the Joint committee on Infant Hearing (JCIH) in appendix 2 of their recommendations (Pediatrics 2007;120;898-921). The user should always provide an answer (none if no risk factors exist) and otherwise pick as many answers as apply. The observations must be included IF the hearing screening result is delivered as part of this report.
Source: Regenstrief LOINC
Condition for Inclusion
This term should be used in the context of the card data panel if newborn hearing screen information is included on the DBS card.
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Hearing loss risk indicators
- Property
- Prid
- Time
- Pt
- System
- ^Patient
- Scale
- Nom
- Method
Additional Names
- Short Name
- Hearing loss risk indicators
Basic Attributes
- Class
- H&P.HX
- Type
- Clinical
- First Released
- Version 2.30
- Last Updated
- Version 2.56
- Change Reason
- Changed answer list from "Normative" to "Preferred" to fit the current LOINC model.
Preferred Answer List LL862-4
| Answer | Code | Score | Answer ID |
|---|---|---|---|
| Family Hx of hearing loss | LA12668-2 | ||
| ICU stay > 5 days | LA12669-0 | ||
| Hyperbilirubinemia with exchange transfusion | LA12673-2 | ||
| Aminoglycoside administration for more than 5 days | LA12672-4 | ||
| Asphyxia or Hypoxic Ischemic Encephalopathy | LA31563-2 | ||
| ECMO | LA12670-8 | ||
| In utero infection(s) such as herpes, rubella, syphilis, and toxoplasmosis | LA12674-0 | ||
| In utero infection with cytomegalovirus (CMV) | LA31564-0 | ||
| Mother + Zika and infant with no laboratory evidence and no clinical findings | LA31565-7 | ||
| Mother + Zika and infant with laboratory evidence of Zika | LA31566-5 | ||
| Craniofacial malformations: Other (e.g., ear dysplasia, oral facial clefting, white forelock, microphthalmia) | LA31852-9 | ||
| Craniofacial malformations: microtia/atresia | LA31853-7 | ||
| Congenital microcephaly, congenital or acquired hydrocephalus | LA31567-3 | ||
| Temporal bone abnormalities | LA31568-1 | ||
| Syndromes associated with atypical hearing thresholds | LA12676-5 | ||
| Culture-positive infections associated with sensorineural hearing loss | LA12678-1 | ||
| Significant head trauma | LA12679-9 | ||
| Chemotherapy | LA6172-6 | ||
| Caregiver concern about hearing | LA12667-4 | ||
| None Copyright http://snomed.info/sct ID:260413007 None (qualifier value) | LA137-2 |
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54111-0 | Newborn hearing screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
| 57794-0 | Newborn screening test results panel - DBS |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| de-DE | German (Germany) | Hörverlust Risikoindikatoren: |
| es-MX | Spanish (Mexico) | Indicadores de riesgo de pérdida auditiva: |
| it-IT | Italian (Italy) | Perdita uditiva, indicatori di rischio: Synonyms: Anamnesi Indicatori di rischio di perdita uditiva paziente Presenza o Identità Punto nel tempo (episodio) |
| pt-BR | Portuguese (Brazil) | Indicadores de risco para perda auditiva: Synonyms: Identity or presence; |
| ru-RU | Russian (Russian Federation) | Слух потеря риск индикаторы: Synonyms: Номинальный; |
| zh-CN | Chinese (China) | 听力损失风险指标: Synonyms: 分类型应答; |
Third Party Copyright
This material includes SNOMED Clinical Terms® (SNOMED CT®) which is used by permission of the International Health Terminology Standards Development Organisation (IHTSDO) under license. All rights reserved. SNOMED CT® was originally created by The College of American Pathologists. "SNOMED" and "SNOMED CT" are registered trademarks of the IHTSDO.
This material includes content from the US Edition to SNOMED CT, which is developed and maintained by the U.S. National Library of Medicine and is available to authorized UMLS Metathesaurus Licensees from the UTS Downloads site at https://uts.nlm.nih.gov.
Use of SNOMED CT content is subject to the terms and conditions set forth in the SNOMED CT Affiliate License Agreement. It is the responsibility of those implementing this product to ensure they are appropriately licensed and for more information on the license, including how to register as an Affiliate Licensee, please refer to http://www.snomed.org/snomed-ct/get-snomed-ct or info@snomed.org<mailto:info@snomed.org>. This may incur a fee in SNOMED International non-Member countries.
54106-0 Newborn hearing screen method
Condition for Inclusion
This term should be used in the context of the card data panel if newborn hearing screen information is included on the DBS card
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Newborn hearing screen method
- Property
- Type
- Time
- Pt
- System
- Ear
- Scale
- Nom
- Method
Additional Names
- Short Name
- NB hearing scn meth
Basic Attributes
- Class
- H&P.HX
- Type
- Clinical
- First Released
- Version 2.26
- Last Updated
- Version 2.73
- Change Reason
- Changed answer list from "Normative" to "Preferred" to fit the current LOINC model.
- Order vs. Observation
- Observation
Preferred Answer List LL617-2
| Answer | Code | Score | Answer ID |
|---|---|---|---|
| Automated auditory brainstem response | AABR | LA10387-1 | |
| Auditory brain stem response | ABR | LA10388-9 | |
| Otoacoustic emissions | OAE | LA10389-7 | |
| Distortion product otoacoustic emissions | DPOAE | LA10390-5 | |
| Transient otoacoustic emissions | TOAE | LA10391-3 | |
| Methodology unknown | LA12406-7 |
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54111-0 | Newborn hearing screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
| 57794-0 | Newborn screening test results panel - DBS |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| de-DE | German (Germany) | Hören bei Neugeborenen Screening: |
| es-MX | Spanish (Mexico) | Método de evaluación auditiva para recién nacidos: |
| it-IT | Italian (Italy) | Neonato, udito, screening, metodo: Synonyms: , metodo di screening Anamnesi Punto nel tempo (episodio) Screening uditivo del neonato Udito del neonato |
| pt-BR | Portuguese (Brazil) | Recém-nascido método de triagem da audição: Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Новорождённого слух скрин метод: Synonyms: Номинальный; |
| zh-CN | Chinese (China) | 新生儿听力 筛查方法: Synonyms: 分类型应答; |
54108-6 Newborn hearing screen of Ear - left
Condition for Inclusion
This term should be used in the context of the card data panel if newborn hearing screen information is included on the DBS card
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Newborn hearing screen
- Property
- Arb
- Time
- Pt
- System
- Ear.left
- Scale
- Ord
- Method
Additional Names
- Short Name
- NB hearing scn Ear-L
Basic Attributes
- Class
- H&P.HX
- Type
- Clinical
- First Released
- Version 2.26
- Last Updated
- Version 2.73
- Change Reason
- Changed answer list from "Normative" to "Preferred" to fit the current LOINC model.
- Order vs. Observation
- Both
Preferred Answer List LL618-0
| Answer | Code | Score | Answer ID |
|---|---|---|---|
| Pass | LA10392-1 | ||
| Refer Copyright http://snomed.info/sct ID:183924009 Referral needed (finding) | LA10393-9 | ||
| Parental refusal Copyright http://snomed.info/sct ID:609589008 Refused by parents of subject (qualifier value) | LA6644-4 | ||
| Attempted, but unsuccessful - technical fail Copyright http://snomed.info/sct ID:103709008 Failed attempted procedure (situation) | LA12408-3 | ||
| Not performed Copyright http://snomed.info/sct ID:262008008 Not performed (qualifier value) | LA7304-4 | ||
| Not performed, medical exclusion - not indicated Copyright http://snomed.info/sct ID:410534003 Not indicated (qualifier value) | LA12409-1 |
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54111-0 | Newborn hearing screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
| 57794-0 | Newborn screening test results panel - DBS |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-MX | Spanish (Mexico) | Pantalla de audición para recién nacidos: |
| it-IT | Italian (Italy) | Neonato, screening udito: Synonyms: Anamnesi Arbitrario Orecchio Sinistro Punto nel tempo (episodio) Screening uditivo del neonato Udito del neonato |
| pt-BR | Portuguese (Brazil) | Recém-nascido triagem de audição: Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Новорождённый слух скрин: Synonyms: Порядковый Произвольный Точка во времени; |
| zh-CN | Chinese (China) | 新生儿听力筛查: Synonyms: L LT 任意; |
Third Party Copyright
This material includes SNOMED Clinical Terms® (SNOMED CT®) which is used by permission of the International Health Terminology Standards Development Organisation (IHTSDO) under license. All rights reserved. SNOMED CT® was originally created by The College of American Pathologists. "SNOMED" and "SNOMED CT" are registered trademarks of the IHTSDO.
This material includes content from the US Edition to SNOMED CT, which is developed and maintained by the U.S. National Library of Medicine and is available to authorized UMLS Metathesaurus Licensees from the UTS Downloads site at https://uts.nlm.nih.gov.
Use of SNOMED CT content is subject to the terms and conditions set forth in the SNOMED CT Affiliate License Agreement. It is the responsibility of those implementing this product to ensure they are appropriately licensed and for more information on the license, including how to register as an Affiliate Licensee, please refer to http://www.snomed.org/snomed-ct/get-snomed-ct or info@snomed.org<mailto:info@snomed.org>. This may incur a fee in SNOMED International non-Member countries.
54109-4 Newborn hearing screen of Ear - right
Condition for Inclusion
This term should be used in the context of the card data panel if newborn hearing screen information is included on the DBS card
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Newborn hearing screen
- Property
- Arb
- Time
- Pt
- System
- Ear.right
- Scale
- Ord
- Method
Additional Names
- Short Name
- NB hearing scn Ear-R
Basic Attributes
- Class
- H&P.HX
- Type
- Clinical
- First Released
- Version 2.26
- Last Updated
- Version 2.73
- Change Reason
- Changed answer list from "Normative" to "Preferred" to fit the current LOINC model.
- Order vs. Observation
- Both
Preferred Answer List LL618-0
| Answer | Code | Score | Answer ID |
|---|---|---|---|
| Pass | LA10392-1 | ||
| Refer Copyright http://snomed.info/sct ID:183924009 Referral needed (finding) | LA10393-9 | ||
| Parental refusal Copyright http://snomed.info/sct ID:609589008 Refused by parents of subject (qualifier value) | LA6644-4 | ||
| Attempted, but unsuccessful - technical fail Copyright http://snomed.info/sct ID:103709008 Failed attempted procedure (situation) | LA12408-3 | ||
| Not performed Copyright http://snomed.info/sct ID:262008008 Not performed (qualifier value) | LA7304-4 | ||
| Not performed, medical exclusion - not indicated Copyright http://snomed.info/sct ID:410534003 Not indicated (qualifier value) | LA12409-1 |
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54111-0 | Newborn hearing screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
| 57794-0 | Newborn screening test results panel - DBS |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-MX | Spanish (Mexico) | Pantalla de audición para recién nacidos: |
| it-IT | Italian (Italy) | Neonato, screening udito: Synonyms: Anamnesi Arbitrario Orecchio Destro Punto nel tempo (episodio) Screening uditivo del neonato Udito del neonato |
| pt-BR | Portuguese (Brazil) | Recém-nascido triagem de audição: Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Новорождённый слух скрин: Synonyms: Порядковый Произвольный Точка во времени; |
| zh-CN | Chinese (China) | 新生儿听力筛查: Synonyms: R RT 任意; |
Third Party Copyright
This material includes SNOMED Clinical Terms® (SNOMED CT®) which is used by permission of the International Health Terminology Standards Development Organisation (IHTSDO) under license. All rights reserved. SNOMED CT® was originally created by The College of American Pathologists. "SNOMED" and "SNOMED CT" are registered trademarks of the IHTSDO.
This material includes content from the US Edition to SNOMED CT, which is developed and maintained by the U.S. National Library of Medicine and is available to authorized UMLS Metathesaurus Licensees from the UTS Downloads site at https://uts.nlm.nih.gov.
Use of SNOMED CT content is subject to the terms and conditions set forth in the SNOMED CT Affiliate License Agreement. It is the responsibility of those implementing this product to ensure they are appropriately licensed and for more information on the license, including how to register as an Affiliate Licensee, please refer to http://www.snomed.org/snomed-ct/get-snomed-ct or info@snomed.org<mailto:info@snomed.org>. This may incur a fee in SNOMED International non-Member countries.
73700-7 CCHD newborn screening interpretation
Term Description
The critical congenital heart defects (CCHD) newborn screening interpretation is the end result of the screening event and is based on the preductal and postductal oxygen saturation measurements as well as the difference between the preductal and postductal measurement. The interpretation will also depend on the particular protocol used for screening.
Source: Regenstrief LOINC
Condition for Inclusion
This term should be used in the context of the card data panel if newborn CCHD screening information is included on the DBS card
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- CCHD newborn screening interpretation
- Property
- Imp
- Time
- Pt
- System
- ^Patient
- Scale
- Nom
- Method
Additional Names
- Short Name
- CCHD NBS interp
Basic Attributes
- Class
- H&P.PX
- Type
- Clinical
- First Released
- Version 2.44
- Last Updated
- Version 2.73
- Change Reason
- Changed answer list from "Normative" to "Preferred" to fit the current LOINC model.
- Order vs. Observation
- Observation
Preferred Answer List LL2453-0
| Answer | Code | Score | Answer ID |
|---|---|---|---|
| In range | LA18592-8 | ||
| Out of range | LA18593-6 | ||
| Inconclusive, repeat screen needed | LA19816-0 | ||
| Attempted but unsuccessful - technical fail | LA19817-8 | ||
| Not performed Copyright http://snomed.info/sct ID:262008008 Not performed (qualifier value) | LA7304-4 |
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
| 57794-0 | Newborn screening test results panel - DBS |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-MX | Spanish (Mexico) | Interpretación del cribado neonatal de CCHD: |
| it-IT | Italian (Italy) | CCHD neonato, screening, interpretazione: Synonyms: Esame obbiettivo Impressione/interpretazione di studio Interpretazione dello screening neonato CCHD paziente Punto nel tempo (episodio) |
| ru-RU | Russian (Russian Federation) | CCHD новорождённого скрининг интерпретация: Synonyms: Впечатление/интерпретация исследования Номинальный; |
| zh-CN | Chinese (China) | CCHD 新生儿筛查解释: Synonyms: Asympt CCHD 新生儿（NB）筛查（筛选、 |
Third Party Copyright
This material includes SNOMED Clinical Terms® (SNOMED CT®) which is used by permission of the International Health Terminology Standards Development Organisation (IHTSDO) under license. All rights reserved. SNOMED CT® was originally created by The College of American Pathologists. "SNOMED" and "SNOMED CT" are registered trademarks of the IHTSDO.
This material includes content from the US Edition to SNOMED CT, which is developed and maintained by the U.S. National Library of Medicine and is available to authorized UMLS Metathesaurus Licensees from the UTS Downloads site at https://uts.nlm.nih.gov.
Use of SNOMED CT content is subject to the terms and conditions set forth in the SNOMED CT Affiliate License Agreement. It is the responsibility of those implementing this product to ensure they are appropriately licensed and for more information on the license, including how to register as an Affiliate Licensee, please refer to http://www.snomed.org/snomed-ct/get-snomed-ct or info@snomed.org<mailto:info@snomed.org>. This may incur a fee in SNOMED International non-Member countries.
73698-3 Reason CCHD oxygen saturation screening not performed
Term Description
Virtually every infant born in the hospital in the United States should have critical congenital heart defects (CCHD) oxygen saturation screening. However, there are some cases in which screening was not appropriate or was not done for other reasons. This term is meant to capture the reason that screening was not performed in those rare instances that an infant did not get screened.
Source: Regenstrief LOINC
Condition for Inclusion
This term should be used in the context of the card data panel if newborn CCHD screening information is included on the DBS card
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Reason CCHD oxygen saturation screening not performed
- Property
- Find
- Time
- Pt
- System
- ^Patient
- Scale
- Nom
- Method
Additional Names
- Short Name
- CCHD SaO2 scrn not prfrmd
Basic Attributes
- Class
- H&P.PX
- Type
- Clinical
- First Released
- Version 2.44
- Last Updated
- Version 2.56
- Change Reason
- Changed answer list from "Normative" to "Preferred" to fit the current LOINC model.
- Order vs. Observation
- Observation
Preferred Answer List LL2458-9
| Answer | Code | Score | Answer ID |
|---|---|---|---|
| Prior prenatal diagnosis of CCHD | LA19819-4 | ||
| Prior postnatal diagnosis of CCHD | LA19820-2 | ||
| Early discharge | LA19821-0 | ||
| Transfer prior to screening | LA19822-8 | ||
| Infant in NICU | LA19823-6 | ||
| Medically unstable and inappropriate for screen | LA19824-4 | ||
| Receiving supplemental oxygen | LA19825-1 | ||
| Infant deceased | LA19826-9 | ||
| Parental refusal based on religious beliefs | LA19827-7 | ||
| Parental refusal for reasons other than religious beliefs | LA19828-5 | ||
| Equipment failure | LA7497-6 | ||
| Diagnostic testing begun in lieu of screening based on clinical suspicion for CCHD | LA20946-2 | ||
| Infant being monitored or treated for non-CCHD condition | LA20947-0 | ||
| Comfort care only | LA25798-2 | ||
| Echocardiography normal | LA25799-0 | ||
| Missed/not documented | LA25800-6 | ||
| Other, Please describe | LA46-8 |
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
| 57794-0 | Newborn screening test results panel - DBS |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-MX | Spanish (Mexico) | Razón por la que no se realizó el cribado de saturación de oxígeno de la CCHD: |
| it-IT | Italian (Italy) | Motivo per cui non è stato eseguito lo screening della saturazione di ossigeno per difetti cardiaci congeniti critici: Synonyms: Esame obbiettivo Osservazione paziente Punto nel tempo (episodio) |
| ru-RU | Russian (Russian Federation) | Причина CCHD кислорода сатурации скрининг не выполнен: Synonyms: Насыщение кислородом Номинальный; |
| zh-CN | Chinese (China) | 未进行 CCHD 氧饱和度筛查的原因: Synonyms: Asympt O2; |
57723-9 Unique bar code number of Current sample
Observation Required in Panel
Required
Fully-Specified Name
- Component
- Unique bar code number
- Property
- ID
- Time
- Pt
- System
- Current sample
- Scale
- Nom
- Method
Additional Names
- Short Name
- Unique bar code # Current sample
- Display Name
- Unique bar code number Nom (Current sample) [ID]
- Consumer Name Alpha Get Info
- Unique bar code number, Current Sample
Basic Attributes
- Class
- SPEC
- Type
- Laboratory
- First Released
- Version 2.29
- Last Updated
- Version 2.73
- Order vs. Observation
- Observation
- Common Test Rank Get Info
- 6255
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
| 57794-0 | Newborn screening test results panel - DBS |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Número único de código de barras: |
| es-MX | Spanish (Mexico) | Número de código de barras único: |
| fr-FR | French (France) | Code barre numéro unique: |
| it-IT | Italian (Italy) | Numero unico di codice a barre: Synonyms: Caratteristiche campione Identificatore Punto nel tempo (episodio) |
| nl-NL | Dutch (Netherlands) | unieke barcodenummer: |
| pt-BR | Portuguese (Brazil) | Único número de código de barras: Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Уникальный штрих-код номер: Synonyms: Идентификатор Номинальный; |
| tr-TR | Turkish (Turkey) | Benzersiz/tek bar kod numarası: |
| zh-CN | Chinese (China) | 唯一性条形码编号: Synonyms: 个数; |
57711-4 Unique bar code number of Initial sample
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Unique bar code number
- Property
- ID
- Time
- Pt
- System
- Initial sample
- Scale
- Nom
- Method
Additional Names
- Short Name
- Unique bar code # Initial sample
- Display Name
- Unique bar code number Nom (Initial sample) [ID]
- Consumer Name Alpha Get Info
- Unique bar code number, Initial Sample
Basic Attributes
- Class
- SPEC
- Type
- Laboratory
- First Released
- Version 2.29
- Last Updated
- Version 2.36
- Order vs. Observation
- Observation
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
| 57794-0 | Newborn screening test results panel - DBS |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Número único de código de barras: |
| es-MX | Spanish (Mexico) | Número de código de barras único: |
| fr-FR | French (France) | Code barre numéro unique: |
| fr-BE | French (Belgium) | Numéro Bar-code unique: |
| it-IT | Italian (Italy) | Numero unico di codice a barre: Synonyms: Caratteristiche campione Identificatore Punto nel tempo (episodio) |
| nl-NL | Dutch (Netherlands) | unieke barcodenummer: |
| pt-BR | Portuguese (Brazil) | Único número de código de barras: Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Уникальный штрих-код номер: Synonyms: Идентификатор Номинальный; |
| tr-TR | Turkish (Turkey) | Benzersiz/tek bar kod numarası: |
| zh-CN | Chinese (China) | 唯一性条形码编号: Synonyms: 个数; |
62323-1 Post-discharge provider ID [Identifier]
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Post-discharge provider ID
- Property
- ID
- Time
- Pt
- System
- Provider
- Scale
- Nom
- Method
Additional Names
- Short Name
- Post-discharge provider ID
- Display Name
- Post-discharge provider ID Nom (Provider) [ID]
- Consumer Name Alpha Get Info
- Post-discharge Provider ID, Provider
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.56
- Last Updated
- Version 2.56
- Order vs. Observation
- Observation
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
| 57794-0 | Newborn screening test results panel - DBS |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | ID del proveedor después del alta: |
| es-MX | Spanish (Mexico) | Identificación del proveedor posterior al alta: |
| it-IT | Italian (Italy) | Provider post-dimissione, ID: Synonyms: Chimica ID di provider post-dimissione Identificatore Punto nel tempo (episodio) |
| ru-RU | Russian (Russian Federation) | После выбытие провайдер ID: Synonyms: Выписка Идентификатор Номинальный; |
| zh-CN | Chinese (China) | 出院后服务提供者标识符: Synonyms: XXX刺激 - 在...之后 之后于... 允许...离开(医院、 |
62324-9 Post-discharge provider name in Provider
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Post-discharge provider name
- Property
- Pn
- Time
- Pt
- System
- Provider
- Scale
- Nom
- Method
Additional Names
- Short Name
- Post-discharge provider name Provider
- Display Name
- Post-discharge provider name Nom (Provider)
- Consumer Name Alpha Get Info
- Post-discharge provider name, Provider
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.56
- Last Updated
- Version 2.56
- Order vs. Observation
- Observation
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
| 57794-0 | Newborn screening test results panel - DBS |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Nombre del proveedor después del alta: |
| es-MX | Spanish (Mexico) | Nombre del proveedor posterior al alta: |
| it-IT | Italian (Italy) | Provider post-dimissione, nome: Synonyms: Chimica Nome di persona Nome di provider post-dimissione Punto nel tempo (episodio) |
| ru-RU | Russian (Russian Federation) | После выбытие провайдер имя: Synonyms: Выписка Номинальный; |
| zh-CN | Chinese (China) | 出院后服务提供者姓名: Synonyms: XXX刺激 - 在...之后 之后于... 人名 允许...离开(医院、 |
62325-6 Post-discharge provider practice ID
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Post-discharge provider practice ID
- Property
- ID
- Time
- Pt
- System
- Provider
- Scale
- Nom
- Method
Additional Names
- Short Name
- Post-discharge provider practice ID
- Display Name
- Post-discharge provider practice ID Nom (Provider) [ID]
- Consumer Name Alpha Get Info
- Post-discharge Provider Practice ID, Provider
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.56
- Last Updated
- Version 2.56
- Order vs. Observation
- Observation
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
| 57794-0 | Newborn screening test results panel - DBS |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | ID del proveedor del servicio después del alta: |
| es-MX | Spanish (Mexico) | Identificación de la práctica del proveedor posterior al alta: |
| it-IT | Italian (Italy) | Provider post-dimissione, ID studio: Synonyms: Chimica ID studio di provider post-dimissione Identificatore Punto nel tempo (episodio) |
| ru-RU | Russian (Russian Federation) | После выбытие провайдер практика ID: Synonyms: Выписка Идентификатор Номинальный; |
| zh-CN | Chinese (China) | 出院后服务提供者执业标识符: Synonyms: XXX刺激 - 在...之后 之后于... 允许...离开(医院、 |
62326-4 Post-discharge provider practice name
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Post-discharge provider practice name
- Property
- ID
- Time
- Pt
- System
- Provider
- Scale
- Nom
- Method
Additional Names
- Short Name
- Post-discharge provider practice name
- Display Name
- Post-discharge provider practice name Nom (Provider) [ID]
- Consumer Name Alpha Get Info
- Post-discharge provider practice name, Provider
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.56
- Last Updated
- Version 2.56
- Order vs. Observation
- Observation
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
| 57794-0 | Newborn screening test results panel - DBS |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Nombre del proveedor del servicio después del alta: |
| es-MX | Spanish (Mexico) | Nombre de la práctica del proveedor posterior al alta: |
| it-IT | Italian (Italy) | Provider post-dimissione, nome studio: Synonyms: Chimica Identificatore Nome studio di provider post-dimissione Punto nel tempo (episodio) |
| ru-RU | Russian (Russian Federation) | После выбытие провайдер практика наименование: Synonyms: Выписка Идентификатор Номинальный; |
| zh-CN | Chinese (China) | 出院后服务提供者执业姓名: Synonyms: XXX刺激 - 在...之后 之后于... 允许...离开(医院、 |
62327-2 Post-discharge provider practice address
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Post-discharge provider practice address
- Property
- Addr
- Time
- Pt
- System
- Provider
- Scale
- Nom
- Method
Additional Names
- Short Name
- Post-disch prov practice address
- Display Name
- Post-discharge provider practice address Nom (Provider)
- Consumer Name Alpha Get Info
- Post-discharge provider practice address, Provider
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.56
- Last Updated
- Version 2.56
- Order vs. Observation
- Observation
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
| 57794-0 | Newborn screening test results panel - DBS |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Dirección del proveedor del servicio después del alta: |
| es-MX | Spanish (Mexico) | Dirección de la práctica del proveedor después del alta: |
| fr-FR | French (France) | Adresse fournisseur après traitement: |
| it-IT | Italian (Italy) | Provider post-dimissione, indirizzo studio: Synonyms: Chimica Indirizzo (HL7 data type) Indirizzo studio di provider post-dimissione Punto nel tempo (episodio) |
| ru-RU | Russian (Russian Federation) | После выбытие провайдер практика адрес: Synonyms: Адрес (HL7 data type) Выписка Номинальный; |
| zh-CN | Chinese (China) | 出院后服务提供者执业地址: Synonyms: XXX刺激 - 在...之后 之后于... 允许...离开(医院、 |
62328-0 Post-discharge provider practice phone number
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Post-discharge provider practice phone number
- Property
- Tele
- Time
- Pt
- System
- Provider
- Scale
- Nom
- Method
Additional Names
- Short Name
- Post-disch prov practice phone #
- Display Name
- Post-discharge provider practice telephone number Nom (Provider)
- Consumer Name Alpha Get Info
- Post-discharge Provider Practice Phone Number
Basic Attributes
- Class
- ADMIN
- Type
- Clinical
- First Released
- Version 2.56
- Last Updated
- Version 2.66
- Change Reason
- Updated "telephone" in Component to "phone" for consistency across terms that report a phone number. Updated Class from "LAB" to "ADMIN".
- Order vs. Observation
- Observation
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
| 57794-0 | Newborn screening test results panel - DBS |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-MX | Spanish (Mexico) | Número de teléfono de la consulta del proveedor después del alta: |
| es-ES | Spanish (Spain) | Número de telefono del proveedor del servicio después del alta: Synonyms: Número de teléfono (datos de HL7) |
| it-IT | Italian (Italy) | Provider post-dimissione, numero di telefono studio: Synonyms: Amministrativo Numero di telefono (HL7 datatype) Numero di telefono studio di provider post-dimissi Punto nel tempo (episodio) |
| ru-RU | Russian (Russian Federation) | После выбытие провайдер практика телефонный номер: Synonyms: Выписка Номинальный; |
| zh-CN | Chinese (China) | 出院后服务提供者执业机构电话号码: Synonyms: XXX刺激 - 在...之后 个数; |
62329-8 Birth hospital facility ID
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Birth hospital facility ID
- Property
- ID
- Time
- Pt
- System
- Facility
- Scale
- Nom
- Method
Additional Names
- Short Name
- Birth hospital ID
- Display Name
- Birth hospital facility ID Nom (Facility) [ID]
- Consumer Name Alpha Get Info
- Birth hospital facility ID
Basic Attributes
- Class
- ADMIN.FACILITY
- Type
- Clinical
- First Released
- Version 2.34
- Last Updated
- Version 2.67
- Order vs. Observation
- Observation
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
| 57794-0 | Newborn screening test results panel - DBS |
| 62863-6 | PhenX domain - Infectious diseases and immunity |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | ID facilitada por el hospital de origen: |
| es-MX | Spanish (Mexico) | Identificación de la instalación del hospital de nacimiento: |
| fr-FR | French (France) | ID hôpital de naissance: |
| it-IT | Italian (Italy) | Ospedale di nascita, ID struttura: Synonyms: Amministrativo ID ospedale di nascita Identificatore Punto nel tempo (episodio) Struttura |
| nl-NL | Dutch (Netherlands) | geboorteziekenhuis ID: |
| ru-RU | Russian (Russian Federation) | Рождение госпиталь учреждение ID: Synonyms: Идентификатор Идентификатор медицинской организации, зафиксировавшей рождение Номинальный; |
| tr-TR | Turkish (Turkey) | Doğum hastanesi tesis ID: |
| zh-CN | Chinese (China) | 出生医院设施标识符: Synonyms: 分类型应答; |
62330-6 Birth hospital facility name
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Birth hospital facility name
- Property
- ID
- Time
- Pt
- System
- Facility
- Scale
- Nom
- Method
Additional Names
- Short Name
- Birth hospital name
- Display Name
- Birth hospital facility name Nom (Facility) [ID]
- Consumer Name Alpha Get Info
- Birth hospital facility name
Basic Attributes
- Class
- ADMIN.FACILITY
- Type
- Clinical
- First Released
- Version 2.34
- Last Updated
- Version 2.67
- Order vs. Observation
- Observation
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
| 57794-0 | Newborn screening test results panel - DBS |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Nombre facilitado por el hospital de origen: |
| es-MX | Spanish (Mexico) | Nombre de la instalación del hospital de nacimiento: |
| fr-FR | French (France) | Nom hôpital de naissance: |
| it-IT | Italian (Italy) | Ospedale di nascita, nome struttura: Synonyms: Amministrativo Identificatore Nome ospedale di nascita Punto nel tempo (episodio) Struttura |
| nl-NL | Dutch (Netherlands) | geboorteziekenhuis naam: |
| ru-RU | Russian (Russian Federation) | Рождение госпиталь учреждение наименование: Synonyms: Идентификатор Номинальный; |
| tr-TR | Turkish (Turkey) | Doğum hastanesi tesis adı: |
| zh-CN | Chinese (China) | 出生医院设施名称: Synonyms: 分类型应答; |
62331-4 Birth hospital facility address
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Birth hospital facility address
- Property
- Addr
- Time
- Pt
- System
- Facility
- Scale
- Nom
- Method
Additional Names
- Short Name
- Birth hospital address
- Display Name
- Birth hospital facility address Nom (Facility)
- Consumer Name Alpha Get Info
- Birth hospital facility address
Basic Attributes
- Class
- ADMIN.FACILITY
- Type
- Clinical
- First Released
- Version 2.34
- Last Updated
- Version 2.67
- Order vs. Observation
- Observation
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
| 57794-0 | Newborn screening test results panel - DBS |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Dirección facilitada por el hospital de origen: |
| es-MX | Spanish (Mexico) | Dirección de la instalación del hospital de nacimiento: |
| fr-FR | French (France) | Adresse hôpital de naissance: |
| it-IT | Italian (Italy) | Ospedale di nascita, indirizzo struttura: Synonyms: Amministrativo Indirizzo (HL7 data type) Indirizzo ospedale di nascita Punto nel tempo (episodio) Struttura |
| nl-NL | Dutch (Netherlands) | geboorteziekenhuis adres: |
| ru-RU | Russian (Russian Federation) | Рождение госпиталь учреждение адрес: Synonyms: Адрес (HL7 data type) Номинальный; |
| tr-TR | Turkish (Turkey) | Doğum hastanesi tesis adresi: |
| zh-CN | Chinese (China) | 出生医院设施地址: Synonyms: 分类型应答; |
62332-2 Birth hospital facility phone number
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Birth hospital facility phone number
- Property
- Tele
- Time
- Pt
- System
- Facility
- Scale
- Nom
- Method
Additional Names
- Short Name
- Birth hospital phone #
- Display Name
- Birth hospital facility phone number Nom (Facility)
- Consumer Name Alpha Get Info
- Birth hospital facility phone number
Basic Attributes
- Class
- ADMIN.FACILITY
- Type
- Clinical
- First Released
- Version 2.34
- Last Updated
- Version 2.66
- Change Reason
- Updated Class from "LAB" to "ADMIN".
- Order vs. Observation
- Observation
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
| 57794-0 | Newborn screening test results panel - DBS |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Número de teléfono facilitado por el hospital de origen: Synonyms: Número de teléfono (datos de HL7) |
| es-MX | Spanish (Mexico) | Número de teléfono de la instalación del hospital de nacimiento: |
| fr-FR | French (France) | Numéro de téléphone hôpital de naissance: |
| it-IT | Italian (Italy) | Ospedale di nascita, numero di telefono struttura: Synonyms: Amministrativo Numero di telefono (HL7 datatype) Numero di telefono ospedale di nascita Punto nel tempo (episodio) Struttura |
| nl-NL | Dutch (Netherlands) | geboorteziekenhuis telefoonnummer: |
| ru-RU | Russian (Russian Federation) | Рождение госпиталь учреждение телефонный номер: Synonyms: Номинальный; |
| tr-TR | Turkish (Turkey) | Doğum hastanesi telefon numarası: |
| zh-CN | Chinese (China) | 出生医院设施电话号码: Synonyms: 个数; |
104196-1 Creatine/Creatinine [Molar ratio] in DBS
Part Descriptions
LP15509-0 Creatine
Creatine is a nitrogenous organic acid that naturally occurs in vertebrates and helps to supply energy to muscle cells. In solution, creatine is in equilibrium with creatinine.
Creatine is naturally produced in the human body from amino acids primarily in the kidney and liver. It is transported in the blood for use by muscles. Approximately 95% of the human body's total creatine is located in skeletal muscle. Genetic deficiencies in the creatine biosynthetic pathway lead to various severe neurological defects.
Copyright Text is available under the Creative Commons Attribution/Share-Alike License. See http://creativecommons.org/licenses/by-sa/3.0/ for details.
Source: Wikipedia, Creatine (Wikipedia)
LP32035-5 Creatinine
Creatinine or creatine anhydride, is a breakdown product of creatine phosphate in muscle. The loss of water molecule from creatine results in the formation of creatinine. It is transferred to the kidneys by blood plasma, whereupon it is eliminated by glomular filtration and partial tubular excretion. Creatinine is usually produced at a fairly constant rate and measuring its serum level is a simple test. A rise in blood creatinine levels is observed only with marked damage to functioning nephrons; therefore this test is not suitable for detecting early kidney disease. Creatine and creatinine are metabolized in the kidneys, muscle, liver and pancreas.
Copyright Copyright ©2005-2009 Genome Alberta (Reference to original publication: Wishart DS, Knox C, Guo AC, et al. HMDB: a knowledgebase for the human metabolome. Nucleic Acids Res. 2009 37(Database issue):D603-610.)
Source: Human Metabolome Database, Creatinine
Fully-Specified Name
- Component
- Creatine/Creatinine
- Property
- SRto
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- Creatine/Creat DBS-sRto
- Display Name
- Creatine/Creatinine (DBS) [Molar ratio]
- Consumer Name Alpha Get Info
- Creatine/Creatinine, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.77
- Last Updated
- Version 2.77
- Order vs. Observation
- Both
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Creatina/Creatinina: Synonyms: Cuantitativo |
| fr-BE | French (Belgium) | Créatine/Créatinine: |
| fr-CA | French (Canada) | Créatine/Créatinine: |
| it-IT | Italian (Italy) | Creatina/Creatinina: Synonyms: Chimica Punto nel tempo (episodio) Rapporto di sostanza Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | creatine/creatinine: Synonyms: kreatinine |
| pl-PL | Polish (Poland) | Kreatynina/kreatynina: |
| ru-RU | Russian (Russian Federation) | Креатинин/Креатинин: Synonyms: Количественный Кровь Кровь сухая капля Мольная доля; |
| tr-TR | Turkish (Turkey) | Kreatin/Kreatinin: Synonyms: SubsOranı |
| zh-CN | Chinese (China) | 肌酸/肌酐: Synonyms: CR; |
Example Units
| Unit | Source |
|---|---|
| mmol/mol{creat} | Example UCUM Units |
104195-3 Guanidinoacetate/Creatinine [Molar ratio] in DBS
Part Descriptions
LP30825-1 Guanidinoacetate
Guanidinoacetate is the immediate precursor of creatine. Guanidinoacetate methyltransferase (GAMT) is the enzyme responsible for converting guanidinoacetate to creatine, and GAMT deficiency causes is a rare, autosomal recessive disorder whose manifestations include seizures, developmental delay, learning difficulties, and autism. Motor function is relatively spared. GAMT deficiency leads to elevated levels of plasma and urine guanidinoacetate, and low plasma creatine and creatinine levels. Elevated levels of guanidinoacetate in the brain are one cause of seizures in patients with GAMT deficiency. The primary treatment is creatine supplementation, which may be combined with ornithine supplementation and arginine restriction. Early diagnosis and treatment may prevent organ damage and preserve cognitive function. If the diagnosis does not occur early and brain damage has already occurred at the time of diagnosis, creatine supplementation can still help control seizures and improve quality of life. PMID: 28119378
Source: Regenstrief LOINC
LP32035-5 Creatinine
Creatinine or creatine anhydride, is a breakdown product of creatine phosphate in muscle. The loss of water molecule from creatine results in the formation of creatinine. It is transferred to the kidneys by blood plasma, whereupon it is eliminated by glomular filtration and partial tubular excretion. Creatinine is usually produced at a fairly constant rate and measuring its serum level is a simple test. A rise in blood creatinine levels is observed only with marked damage to functioning nephrons; therefore this test is not suitable for detecting early kidney disease. Creatine and creatinine are metabolized in the kidneys, muscle, liver and pancreas.
Copyright Copyright ©2005-2009 Genome Alberta (Reference to original publication: Wishart DS, Knox C, Guo AC, et al. HMDB: a knowledgebase for the human metabolome. Nucleic Acids Res. 2009 37(Database issue):D603-610.)
Source: Human Metabolome Database, Creatinine
Fully-Specified Name
- Component
- Guanidinoacetate/Creatinine
- Property
- SRto
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- Guanidinoacetate/Creat DBS-sRto
- Display Name
- Guanidinoacetate/Creatinine (DBS) [Molar ratio]
- Consumer Name Alpha Get Info
- Guanidinoacetate/Creatinine, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.77
- Last Updated
- Version 2.77
- Order vs. Observation
- Both
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Guanidinoacetato/Creatinina: Synonyms: Cuantitativo |
| fr-CA | French (Canada) | Guanidinoacétate/Créatinine: |
| fr-BE | French (Belgium) | Guanidinoacétate/Créatinine: |
| it-IT | Italian (Italy) | Guanidinoacetato/Creatinina: Synonyms: Chimica Punto nel tempo (episodio) Rapporto di sostanza Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | guanidinoacetaat/creatinine: Synonyms: kreatinine |
| ru-RU | Russian (Russian Federation) | Гуанидинацетат/Креатинин: Synonyms: Количественный Кровь Кровь сухая капля Мольная доля; |
| tr-TR | Turkish (Turkey) | Guanidinoasetat/Kreatinin: Synonyms: SubsOranı |
| zh-CN | Chinese (China) | 胍基乙酸/肌酐: Synonyms: CR; |
Example Units
| Unit | Source |
|---|---|
| umol/mol{creat} | Example UCUM Units |
104194-6 Creatine [Moles/volume] in DBS
Part Descriptions
LP15509-0 Creatine
Creatine is a nitrogenous organic acid that naturally occurs in vertebrates and helps to supply energy to muscle cells. In solution, creatine is in equilibrium with creatinine.
Creatine is naturally produced in the human body from amino acids primarily in the kidney and liver. It is transported in the blood for use by muscles. Approximately 95% of the human body's total creatine is located in skeletal muscle. Genetic deficiencies in the creatine biosynthetic pathway lead to various severe neurological defects.
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Source: Wikipedia, Creatine (Wikipedia)
Fully-Specified Name
- Component
- Creatine
- Property
- SCnc
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- Creatine DBS-sCnc
- Display Name
- Creatine (DBS) [Moles/Vol]
- Consumer Name Alpha Get Info
- Creatine, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.77
- Last Updated
- Version 2.77
- Order vs. Observation
- Both
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Creatina: Synonyms: Cuantitativo |
| et-EE | Estonian (Estonia) | Kreatiin: Synonyms: Aine kontsentratsioon Juhuslik Kvantitatiivne Veri |
| fr-CA | French (Canada) | Créatine: |
| fr-BE | French (Belgium) | Créatine: |
| it-IT | Italian (Italy) | Creatina: Synonyms: Chimica Concentrazione di Sostanza Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | creatine: |
| pl-PL | Polish (Poland) | Kreatynina: |
| ru-RU | Russian (Russian Federation) | Креатинин: Synonyms: Количественный Кровь Кровь сухая капля Молярность; |
| tr-TR | Turkish (Turkey) | Kreatin: |
| zh-CN | Chinese (China) | 肌酸: Synonyms: Cr; |
Example Units
| Unit | Source |
|---|---|
| mmol/L | Example UCUM Units |
93488-5 Guanidinoacetate [Moles/volume] in DBS
Part Descriptions
LP30825-1 Guanidinoacetate
Guanidinoacetate is the immediate precursor of creatine. Guanidinoacetate methyltransferase (GAMT) is the enzyme responsible for converting guanidinoacetate to creatine, and GAMT deficiency causes is a rare, autosomal recessive disorder whose manifestations include seizures, developmental delay, learning difficulties, and autism. Motor function is relatively spared. GAMT deficiency leads to elevated levels of plasma and urine guanidinoacetate, and low plasma creatine and creatinine levels. Elevated levels of guanidinoacetate in the brain are one cause of seizures in patients with GAMT deficiency. The primary treatment is creatine supplementation, which may be combined with ornithine supplementation and arginine restriction. Early diagnosis and treatment may prevent organ damage and preserve cognitive function. If the diagnosis does not occur early and brain damage has already occurred at the time of diagnosis, creatine supplementation can still help control seizures and improve quality of life. PMID: 28119378
Source: Regenstrief LOINC
Fully-Specified Name
- Component
- Guanidinoacetate
- Property
- SCnc
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- Guanidinoacetate DBS-sCnc
- Display Name
- Guanidinoacetate (DBS) [Moles/Vol]
- Consumer Name Alpha Get Info
- Guanidinoacetate, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.67
- Last Updated
- Version 2.67
- Order vs. Observation
- Both
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 53261-4 | Amino acid newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-MX | Spanish (Mexico) | Guanidinoacetato: |
| es-ES | Spanish (Spain) | Guanidinoacetato: Synonyms: Cuantitativo |
| et-EE | Estonian (Estonia) | Guanidinoatsetaat: Synonyms: Aine kontsentratsioon Juhuslik Kvantitatiivne Veri |
| fr-FR | French (France) | Guanidinoacétate: |
| fr-BE | French (Belgium) | Guanidinoacétate: |
| fr-CA | French (Canada) | Guanidinoacétate: |
| it-IT | Italian (Italy) | Guanidinoacetato: Synonyms: Chimica Concentrazione di Sostanza Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | guanidinoacetaat: |
| ru-RU | Russian (Russian Federation) | Гуанидинацетат: Synonyms: Количественный Кровь Кровь сухая капля Молярность; |
| tr-TR | Turkish (Turkey) | Guanidinoasetat: |
| zh-CN | Chinese (China) | 胍基乙酸: Synonyms: GAA; |
Example Units
| Unit | Source |
|---|---|
| umol/L | Example UCUM Units |
104193-8 Guanidinoacetate methyltransferase deficiency comment [Text] in DBS Narrative
Fully-Specified Name
- Component
- Guanidinoacetate methyltransferase deficiency comment
- Property
- Txt
- Time
- Pt
- System
- Bld.dot
- Scale
- Nar
- Method
Additional Names
- Short Name
- GAMT comment DBS
- Display Name
- Guanidinoacetate methyltransferase deficiency comment Nar (DBS)
- Consumer Name Alpha Get Info
- Guanidinoacetate methyltransferase deficiency comment, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.77
- Last Updated
- Version 2.77
- Order vs. Observation
- Both
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Comentario a la deficiencia de guanidinoacetato metiltransferasa: |
| it-IT | Italian (Italy) | Deficit di guanidinoacetato-metiltransferasi, commento: Synonyms: Chimica Commento di Deficit di guanidinoacetato-metiltransferasi Deficit di GAMT Punto nel tempo (episodio) Sangue Spot sangue secco Testo |
| nl-NL | Dutch (Netherlands) | opmerking over deficiëntie van guanidinoacetaatmethyltransferase: Synonyms: guanidinoacetaatmethyltransferasedeficiëntie |
104192-0 Guanidinoacetate methyltransferase deficiency newborn screen interpretation
Fully-Specified Name
- Component
- Guanidinoacetate methyltransferase deficiency
- Property
- Imp
- Time
- Pt
- System
- Bld.dot
- Scale
- Nom
- Method
Additional Names
- Short Name
- GAMT DBS-Imp
- Display Name
- Guanidinoacetate methyltransferase deficiency (DBS) [Interp]
- Consumer Name Alpha Get Info
- Guanidinoacetate methyltransferase deficiency, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.77
- Last Updated
- Version 2.77
- Order vs. Observation
- Both
Example Answer List LL835-0
| Answer | Code | Score | Answer ID |
|---|---|---|---|
| None Copyright http://snomed.info/sct ID:260413007 None (qualifier value) | LA137-2 | ||
| Hearing loss Copyright http://snomed.info/sct ID:15188001 Hearing loss (disorder) | HEAR | LA24366-9 | |
| 2-Methyl-3-hydroxybutyric aciduria Copyright http://snomed.info/sct ID:791000124107 2-methyl-3-hydroxybutyric aciduria (disorder) | 2M3HBA | LA12464-6 | |
| 2-Methylbutyrylglycinuria Copyright http://snomed.info/sct ID:445596006 2-methylbutyrylglycinuria (disorder) | 2MBG | LA12465-3 | |
| 3-Methylcrotonyl-CoA carboxylase deficiency Copyright http://snomed.info/sct ID:13144005 Methylcrotonyl-coenzyme A carboxylase deficiency (disorder) | 3-MCC | LA12466-1 | |
| 3-Methylcrotonyl-CoA carboxylase deficiency (maternal) Copyright http://snomed.info/sct ID:206001006 Fetal or neonatal effect of maternal problem unrelated to pregnancy (disorder) | 3-MCC (mat) | LA12467-9 | |
| 3-Methylglutaconic aciduria Copyright http://snomed.info/sct ID:237950009 3-Methylglutaconic aciduria (disorder) | 3MGA | LA12468-7 | |
| Pyroglutamic acidemia Copyright http://snomed.info/sct ID:39112005 Glutathione synthase deficiency with 5-oxoprolinuria (disorder) | 5-OXO | LA12469-5 | |
| Argininemia | ARG | LA21161-7 | |
| Argininosuccinic aciduria | ASA | LA21162-5 | |
| Biopterin defect in cofactor biosynthesis Copyright http://snomed.info/sct ID:237914002 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency (disorder) | BIOPT-BS | LA12472-9 | |
| Biopterin defect in cofactor regeneration Copyright http://snomed.info/sct ID:58256000 Dihydropteridine reductase deficiency (disorder) | BIOPT-REG | LA12473-7 | |
| Beta-ketothiolase deficiency Copyright http://snomed.info/sct ID:237953006 Mitochondrial 2-methylacetoacetyl-CoA thiolase deficiency - potassium stimulated (disorder) | BKT | LA12474-5 | |
| Carnitine acylcarnitine translocase deficiency Copyright http://snomed.info/sct ID:238003000 Carnitine acylcarnitine translocase deficiency (disorder) | CACT | LA12475-2 | |
| Cobalamin A disease Copyright http://snomed.info/sct ID:73843004 Cobalamin A disease (disorder) | CBL A | LA12476-0 | |
| Cobalamin B disease Copyright http://snomed.info/sct ID:82245003 Cobalamin B disease (disorder) | CBL B | LA12477-8 | |
| Cobalamin C disease Copyright http://snomed.info/sct ID:74653006 Cobalamin C disease (disorder) | CBL C | LA12478-6 | |
| Cobalamin D disease Copyright http://snomed.info/sct ID:31220004 Cobalamin D disease (disorder) | CBL D | LA12479-4 | |
| Cobalamin E disease Copyright http://snomed.info/sct ID:360373000 Homocystinuria vitamin B12-responsive type III (disorder) | CBL E | LA12480-2 | |
| CBL G type Methylcobalamin deficiency Copyright http://snomed.info/sct ID:721187005 Methylcobalamin deficiency type cbl G (disorder) | CBL G | LA12481-0 | |
| Citrullinemia, type I Copyright http://snomed.info/sct ID:398680004 Citrullinemia (disorder) | CIT-I | LA12482-8 | |
| Citrullinemia, type II Copyright http://snomed.info/sct ID:716863007 Citrullinemia type II (disorder) | CIT-II | LA12483-6 | |
| Carbamoyl-phosphate synthase deficiency Copyright http://snomed.info/sct ID:62522004 Congenital hyperammonemia, type I (disorder) | CPS | LA12484-4 | |
| Carnitine palmitoyltransferase type I deficiency Copyright http://snomed.info/sct ID:238001003 Carnitine palmitoyltransferase I deficiency (disorder) | CPT-Ia | LA12485-1 | |
| Carnitine palmitoyltransferase type II deficiency Copyright http://snomed.info/sct ID:238002005 Carnitine palmitoyltransferase II deficiency (disorder) | CPT-II | LA12486-9 | |
| Carnitine uptake deficiency/carnitine transport defect Copyright http://snomed.info/sct ID:21764004 Renal carnitine transport defect (disorder) | CUD | LA12487-7 | |
| Carnitine uptake deficiency/carnitine transport defect (maternal) Copyright http://snomed.info/sct ID:206001006 Fetal or neonatal effect of maternal problem unrelated to pregnancy (disorder) | CUD (mat) | LA12488-5 | |
| 2,4-Dienoyl-CoA reductase deficiency Copyright http://snomed.info/sct ID:444944006 Deficiency of 2,4-dienoyl-coenzyme A reductase (disorder) | De-Red | LA12489-3 | |
| Dihydrolipoamide dehydrogenase deficiency Copyright http://snomed.info/sct ID:29914000 Dihydrolipoamide dehydrogenase deficiency (disorder) | E3 | LA12490-1 | |
| Ethylmalonic encephalopathy Copyright http://snomed.info/sct ID:723307008 Ethylmalonic encephalopathy (disorder) | EMA | LA12491-9 | |
| Formiminoglutamic acidemia Copyright http://snomed.info/sct ID:59761008 Glutamate formiminotransferase deficiency (disorder) | FIGLU | LA12492-7 | |
| Glutaric acidemia type I Copyright http://snomed.info/sct ID:76175005 Glutaric aciduria, type 1 (disorder) | GA-1 | LA12493-5 | |
| Glutaric acidemia (maternal) Copyright http://snomed.info/sct ID:206001006 Fetal or neonatal effect of maternal problem unrelated to pregnancy (disorder) | GA-1 (mat) | LA12494-3 | |
| Glutaric acidemia type II Copyright http://snomed.info/sct ID:22886006 Glutaric aciduria, type 2 (disorder) | GA-2 | LA12495-0 | |
| Homocystinuria Copyright http://snomed.info/sct ID:11282001 Homocystinuria (disorder) | HCY | LA12496-8 | |
| Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome Copyright http://snomed.info/sct ID:30287008 Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome (disorder) | HHH | LA12497-6 | |
| Histidinemia Copyright http://snomed.info/sct ID:410058007 Histidinemia (disorder) | HIS | LA12498-4 | |
| 3-Hydroxy-3-methylglutaric aciduria Copyright http://snomed.info/sct ID:410059004 Hydroxymethylglutaric aciduria (disorder) | HMG | LA12499-2 | |
| Hyperphenylalaninemia (variant, benign) Copyright http://snomed.info/sct ID:68528007 Hyperphenylalaninemia (disorder) | H-PHE | LA12500-7 | |
| Hyperlysinemia Copyright http://snomed.info/sct ID:58558003 Hyperlysinemia (disorder) | Hyper LYS | LA12501-5 | |
| Girate atrophy of the retina Copyright http://snomed.info/sct ID:314467007 Gyrate atrophy (disorder) | Hyper ORN | LA12502-3 | |
| Valinemia Copyright http://snomed.info/sct ID:47719001 Hypervalinemia (disorder) | Hyper VAL | LA12503-1 | |
| Isobutyrylglycinuria Copyright http://snomed.info/sct ID:445571008 Isobutyrylglycinuria (disorder) | IBG | LA12504-9 | |
| Isovaleric acidemia Copyright http://snomed.info/sct ID:87827003 Isovaleryl-coenzyme A dehydrogenase deficiency (disorder) | IVA | LA12505-6 | |
| Primary lactic acidemia Copyright http://snomed.info/sct ID:190882007 Lactic acidemia (disorder) | LACTIC | LA12506-4 | |
| Long-chain L-3 hydroxyacyl-CoA dehydrogenase deficiency Copyright http://snomed.info/sct ID:307127004 Isolated long chain hydroxyacyl-CoA dehydrogenase deficiency (disorder) | LCHAD | LA12507-2 | |
| Malonic acidemia Copyright http://snomed.info/sct ID:124594007 Deficiency of malonyl-coenzyme A decarboxylase (disorder) | MAL | LA12508-0 | |
| Medium-chain acyl-CoA dehydrogenase deficiency Copyright http://snomed.info/sct ID:128596003 Medium-chain acyl-coenzyme A dehydrogenase deficiency (disorder) | MCAD | LA12509-8 | |
| Holoocarboxylase synthase deficiency Copyright http://snomed.info/sct ID:360369003 Holocarboxylase synthase deficiency (disorder) | MCD | LA12510-6 | |
| Medium-chain ketoacyl-CoA thiolase deficiency Copyright http://snomed.info/sct ID:124265004 Deficiency of acetyl-coenzyme A acyltransferase (disorder) | MCKAT | LA12511-4 | |
| Hypermethioninemia Copyright http://snomed.info/sct ID:43123004 Hypermethioninemia (disorder) | MET | LA12512-2 | |
| Maple syrup urine disease Copyright http://snomed.info/sct ID:27718001 Maple syrup urine disease (disorder) | MSUD | LA21168-2 | |
| Methylene tetrahydrofolate reductase deficiency Copyright http://snomed.info/sct ID:41797007 5,10-Methylenetetrahydrofolate reductase deficiency (disorder) | MTHFR | LA12514-8 | |
| Methylmalonic acidemia Copyright http://snomed.info/sct ID:124680001 Deficiency of methylmalonyl-coenzyme A mutase (disorder) | MUT | LA12515-5 | |
| Nonketotic hyperglycinemia (glycine encephalopathy) Copyright http://snomed.info/sct ID:237939006 Non-ketotic hyperglycinemia (disorder) | NKHG | LA12516-3 | |
| Hydroxyprolinemia Copyright http://snomed.info/sct ID:25739007 Hyperhydroxyprolinemia (disorder) | OH PRO | LA12517-1 | |
| Ornithine transcarbamylase deficiency Copyright http://snomed.info/sct ID:80908008 Ornithine carbamoyltransferase deficiency (disorder) | OTC | LA12518-9 | |
| Pyruvate carboxylase deficiency Copyright http://snomed.info/sct ID:87694001 Pyruvate carboxylase deficiency (disorder) | PC | LA12519-7 | |
| Classic phenylketonuria Copyright http://snomed.info/sct ID:7573000 Classical phenylketonuria (disorder) | PKU | LA12520-5 | |
| Hyperprolinemia type I Copyright http://snomed.info/sct ID:61071003 Proline dehydrogenase deficiency (disorder) | PRO I | LA12521-3 | |
| Hyperprolinemia type II Copyright http://snomed.info/sct ID:717181004 Hyperprolinemia type 2 (disorder) | PRO II | LA12522-1 | |
| Propionic acidemia Copyright http://snomed.info/sct ID:69080001 Propionic acidemia (disorder) | PROP | LA12523-9 | |
| Short-chain acyl-CoA dehydrogenase deficiency Copyright http://snomed.info/sct ID:124166007 Deficiency of butyryl-CoA dehydrogenase (disorder) | SCAD | LA12524-7 | |
| Short-chain L-3-hydroxy acyl-CoA dehydrogenase deficiency Copyright http://snomed.info/sct ID:237998000 Short chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency (disorder) | SCHAD | LA12525-4 | |
| Succinyl-CoA ligase deficiency Copyright http://snomed.info/sct ID:445275003 Deficiency of succinate-coenzyme A ligase (disorder) | SUCLA2 | LA12526-2 | |
| Trifunctional protein deficiency Copyright http://snomed.info/sct ID:237999008 Mitochondrial trifunctional protein deficiency (disorder) | TFP | LA12527-0 | |
| Tyrosinemia, type I Copyright http://snomed.info/sct ID:410056006 Tyrosinemia type I (disorder) | TYR-I | LA12528-8 | |
| Tyrosinemia, type II Copyright http://snomed.info/sct ID:4887000 Hypertyrosinemia, Richner-Hanhart type (disorder) | TYR-II | LA12529-6 | |
| Tyrosinemia, type III Copyright http://snomed.info/sct ID:415764005 Tyrosinemia type III (disorder) | TYR-III | LA12530-4 | |
| Very long-chain acyl-CoA dehydrogenase deficiency Copyright http://snomed.info/sct ID:237997005 Very long chain acyl-coenzyme A dehydrogenase deficiency (disorder) | VLCAD | LA12531-2 | |
| Biotinidase deficiency Copyright http://snomed.info/sct ID:8808004 Biotinidase deficiency (disorder) | BIO | LA12532-0 | |
| Congenital adrenal hyperplasia Copyright http://snomed.info/sct ID:237751000 Congenital adrenal hyperplasia (disorder) | CAH | LA12533-8 | |
| Cystic fibrosis Copyright http://snomed.info/sct ID:190905008 Cystic fibrosis (disorder) | CF | LA22202-8 | |
| Primary congenital hypothyroidism Copyright http://snomed.info/sct ID:190268003 Congenital hypothyroidism (disorder) | CH | LA12538-7 | |
| Secondary congenital hypothyroidism Copyright http://snomed.info/sct ID:82598004 Secondary hypothyroidism (disorder) | CH2 | LA12539-5 | |
| Glucose-6-phosphate dehydrogenase deficiency Copyright http://snomed.info/sct ID:124134002 Deficiency of glucose-6-phosphate dehydrogenase (disorder) | G6PD | LA12540-3 | |
| Galactoepimerase deficiency Copyright http://snomed.info/sct ID:8849004 Uridine diphosphate glucose-4-epimerase deficiency (disorder) | GALE | LA12541-1 | |
| Galactokinase deficiency Copyright http://snomed.info/sct ID:124302001 Deficiency of galactokinase (disorder) | GALT | LA12542-9 | |
| Classical galactosemia | LA21165-8 | ||
| Hb C-carrier Copyright http://snomed.info/sct ID:76050008 Hemoglobin C trait (disorder) | LA12602-1 | ||
| Hb D-carrier Copyright http://snomed.info/sct ID:7391009 Hemoglobin D trait (disorder) | LA12603-9 | ||
| Hb E-carrier Copyright http://snomed.info/sct ID:46248003 Hemoglobin E trait (disorder) | LA12604-7 | ||
| Hb O-Arab carrier | LA12605-4 | ||
| Hb S (sickle)-carrier Copyright http://snomed.info/sct ID:16402000 Sickle cell trait (disorder) | LA12606-2 | ||
| Hb C-disease Copyright http://snomed.info/sct ID:51053007 Hemoglobin C disease (disorder) | LA12607-0 | ||
| Hb C beta-thalassemia Copyright http://snomed.info/sct ID:119691000119106 Hemoglobin C/beta thalassemia disease (disorder) | LA12608-8 | ||
| Hb D-disease | LA12609-6 | ||
| Hb D beta-thalassemia Copyright http://snomed.info/sct ID:119701000119106 Hemoglobin D/beta thalassemia disease (disorder) | LA12610-4 | ||
| Hb beta zero-thalassemia Copyright http://snomed.info/sct ID:86715000 Beta zero thalassemia (disorder) | LA12611-2 | ||
| Hb E-disease Copyright http://snomed.info/sct ID:25065001 Hemoglobin E disease (disorder) | LA12612-0 | ||
| Hb E beta-thalassemia Copyright http://snomed.info/sct ID:234392002 Hemoglobin E/beta thalassemia disease (disorder) | LA12613-8 | ||
| Hb SS-disease (sickle cell anemia) Copyright http://snomed.info/sct ID:127040003 Sickle cell-hemoglobin SS disease (disorder) | LA12614-6 | ||
| Hb S beta-thalassemia Copyright http://snomed.info/sct ID:127041004 Sickle cell-beta-thalassemia (disorder) | LA12615-3 | ||
| Hb SC-disease Copyright http://snomed.info/sct ID:35434009 Sickle cell-hemoglobin C disease (disorder) | LA12616-1 | ||
| Hb SD-disease Copyright http://snomed.info/sct ID:25472008 Sickle cell-hemoglobin D disease (disorder) | LA12617-9 | ||
| Hb SE-disease Copyright http://snomed.info/sct ID:47024008 Sickle cell-hemoglobin E disease (disorder) | LA12618-7 | ||
| Hb S O-Arab disease Copyright http://snomed.info/sct ID:127048005 Sickle cell-Hemoglobin O Arab disease (disorder) | LA12619-5 | ||
| Hb S plus Hb other than A,C,D,E,O-Arab disease Copyright http://snomed.info/sct ID:23269001 Double heterozygous sickling disorder (disorder) | LA12620-3 | ||
| Hb disease other than A, C, D, E, H,O-Arab, S Copyright http://snomed.info/sct ID:80141007 Hemoglobinopathy (disorder) | LA12621-1 | ||
| Hb carrier other than C, D, E, S ,O-Arab | LA12622-9 | ||
| Congenital HIV Copyright http://snomed.info/sct ID:52079000 Congenital human immunodeficiency virus infection (disorder) | HIV | LA12565-0 | |
| Severe combined immunodeficiency Copyright http://snomed.info/sct ID:31323000 Severe combined immunodeficiency disease (disorder) | SCID | LA12566-8 | |
| Thyroid-binding globulin deficiency Copyright http://snomed.info/sct ID:237544006 Thyroid-binding globulin deficiency (disorder) | TBG | LA12567-6 | |
| Congenital toxoplasmosis Copyright http://snomed.info/sct ID:73893000 Congenital toxoplasmosis (disorder) | TOXO | LA12568-4 | |
| CIT-I or CIT-II or ASA | LA12569-2 | ||
| HCY or MET or CBL C | LA12570-0 | ||
| PKU or BIPT-BS or BIOPT-REG or H-PHE | LA12571-8 | ||
| TYR-1 or TYR-II or TYR-III | LA12572-6 | ||
| CPT-II or CACT | LA12573-4 | ||
| LCHAD or TFP | LA12574-2 | ||
| MCAD or SCAD or GA-2(MADD) | LA12575-9 | ||
| SCAD or EMA or IBG or GA-2 (MADD) | LA12576-7 | ||
| 2M3HBA or BKT-2 | LA12577-5 | ||
| IVA or 2MBG or GA-2 or EMA | LA12578-3 | ||
| PROP or CBL A or CBL B or MUT or CBL C or MCD | LA12579-1 | ||
| 3-MCC or 3-MCC (mat) or 3MGA or BKT or HMG or MCD or BIO | LA12915-7 | ||
| CUD or CUD (mat) or CPT-Ia | LA12916-5 | ||
| GA-1 or GA-2 | LA12917-3 | ||
| Fabry disease Copyright http://snomed.info/sct ID:16652001 Fabry's disease (disorder) | GLA | LA14036-0 | |
| Pompe disease Copyright http://snomed.info/sct ID:274864009 Glycogen storage disease due to acid maltase deficiency (disorder) | GAA | LA14037-8 | |
| Krabbe disease Copyright http://snomed.info/sct ID:192782005 Galactosylceramide beta-galactosidase deficiency (disorder) | GALC | LA14038-6 | |
| Gaucher disease Copyright http://snomed.info/sct ID:190794006 Glucosylceramide beta-glucosidase deficiency (disorder) | GBA | LA14039-4 | |
| Niemann Pick disease A/B Copyright http://snomed.info/sct ID:58459009 Sphingomyelin/cholesterol lipidosis (disorder) | ASM | LA14040-2 | |
| Hb H-disease Copyright http://snomed.info/sct ID:48553001 Hemoglobin H disease (disorder) | LA16007-9 | ||
| Hemoglobinopathies Copyright http://snomed.info/sct ID:80141007 Hemoglobinopathy (disorder) | LA16207-5 | ||
| Critical congenital heart disease | CCHD | LA20349-9 | |
| X-linked adrenoleukodystrophy Copyright http://snomed.info/sct ID:65389002 Adrenoleukodystrophy (disorder) | X-ALD | LA25796-6 | |
| Mucopolysaccharidosis type I Copyright http://snomed.info/sct ID:75610003 Mucopolysaccharidosis type I (disorder) | MPS-I | LA25797-4 | |
| Guanidinoacetate N-methyltransferase deficiency Copyright http://snomed.info/sct ID:124239003 Deficiency of guanidinoacetate methyltransferase (disorder) | GAMT | LA30113-7 | |
| L-arginine:glycine amidinotransferase deficiency Copyright http://snomed.info/sct ID:702440000 Cerebral creatine deficiency syndrome 3 (disorder) | AGAT | LA30114-5 | |
| X-linked creatine transporter (CRTR) deficiency Copyright http://snomed.info/sct ID:698290008 X-linked creatine deficiency (disorder) | CRTR | LA30492-5 | |
| Spinal muscular atrophy Copyright http://snomed.info/sct ID:5262007 Spinal muscular atrophy (disorder) | SMA | LA22279-6 | |
| Deficiency of guanidinoacetate methyltransferase (disorder) | LA34469-9 | ||
| Mucopolysaccharidosis type II (disorder) | LA34470-7 |
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Deficiencia de guanidinoacetato metiltransferasa: |
| it-IT | Italian (Italy) | Deficit di guanidinoacetato-metiltransferasi: Synonyms: Chimica Deficit di GAMT Impressione/interpretazione di studio Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | deficiëntie van guanidinoacetaatmethyltransferase: Synonyms: guanidinoacetaatmethyltransferasedeficiëntie |
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