OMOP Concept 37109778
SLC35A1 congenital disorder of glycosylation
StandardConditionSNOMED723624008Disorder
Maps from
2
Descendants
0
Valid from
31 Jul 2017
Valid to
31 Dec 2099
OMOP concepts
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Source codes that map to this concept
2 source codes normalize to SLC35A1 congenital disorder of glycosylation via the OMOP "Maps to" relationship.
| Vocabulary | Code | Name | Type |
|---|---|---|---|
| MeSH | C567040 | Congenital Disorder Of Glycosylation, Type IIF | Non-standard |
| Nebraska Lexicon | 723624008 | Congenital disorder of glycosylation type 2f | Non-standard |
Synonyms
Alternative names recorded for SLC35A1 congenital disorder of glycosylation across source vocabularies.
- Carbohydrate deficient glycoprotein syndrome type IIf
- CMP-sialic acid transporter deficiency
- Congenital disorder of glycosylation type 2f
- Congenital disorder of glycosylation type IIf
- deficiencia de transportador de CMP-ácido siálico
- SLC35A1 (solute carrier family 35 member A1) congenital disorder of glycosylation
- Solute carrier family 35 member A1 congenital disorder of glycosylation
- Solute carrier family 35 member A1 congenital disorder of glycosylation (disorder)
- trastorno de la glicosilación por anomalía del miembro A1 de la familia 35 de transportadores de solutos
- trastorno de la glicosilación por anomalía del miembro A1 de la familia 35 de transportadores de solutos (trastorno)
Where it sits in the hierarchy
Ordered by distance - 1 is a direct parent or child.
Broader concepts
(12)Roll up to these when you need a wider cohort.
- 1Carbohydrate-deficient glycoprotein syndrome
- 1Disorder of pyrimidine metabolism
- 2Disorder of glycoprotein metabolism
- 2Metabolic disease
- 3Disease
- 3Inborn error of metabolism
- 4Clinical finding
- 4Congenital disease
- 4Hereditary metabolic disease
- 5Disorder of fetus and/or newborn
- 5Hereditary disease
- 6Genetic disease
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