62315-7
Niemann Pick disease A/B newborn screening panel
Active
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-MX | Spanish (Mexico) | Enfermedad de Niemann Pick A + B: |
| es-ES | Spanish (Spain) | Enfermedad de Niemann-Pick A+B: |
| fr-BE | French (Belgium) | Maladie de Niemann Pick A+B: |
| fr-FR | French (France) | Maladie de Niemann Pick A+B: |
| fr-CA | French (Canada) | 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-MX | Spanish (Mexico) | Discusión de comentario sobre detección neonatal A + B de enfermedad de Niemann Pick: |
| es-ES | Spanish (Spain) | Enfermedad de Niemann-Pick A+B screnning de recién nacidos comentario-discusión: |
| fr-BE | French (Belgium) | Maladie de Niemann Pick A+B Commentaires.screening néonatal.discussion: |
| fr-FR | French (France) | Maladie de Niemann Pick A+B dépistage néonatal (commentaire-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-BE | French (Belgium) | Sphingomyélinase acide: |
| fr-FR | French (France) | 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 |