62307-4
Krabbe disease newborn screening panel
Active
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-BE | French (Belgium) | Maladie de Krabbe: |
| fr-FR | French (France) | 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-MX | Spanish (Mexico) | Comentario-discusión sobre la detección del recién nacido de la enfermedad de Krabbe: |
| es-ES | Spanish (Spain) | Enfermedad de Krabbe screnning de recién nacidos comentario-discusión: |
| fr-BE | French (Belgium) | Maladie de Krabbe Commentaires.screening néonatal.discussion: |
| fr-FR | French (France) | Maladie de Krabbe dépistage néonatal (commentaire-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-MX | Spanish (Mexico) | Galactosilceramidasa: |
| es-ES | Spanish (Spain) | Galactosilceramidasa: Synonyms: Cuantitativo |
| et-EE | Estonian (Estonia) | Galaktosüülkeramidaas: Synonyms: Juhuslik Kvantitatiivne Veri |
| fr-BE | French (Belgium) | Galactosylcéramidase: |
| fr-FR | French (France) | Galactosylcéramidase: |
| fr-CA | French (Canada) | 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 |