OMOP Concept 4236246
Glutaryl-CoA dehydrogenase deficiency
StandardConditionSNOMED360416003Disorder
Maps from
6
Descendants
0
Valid from
31 Jan 2002
Valid to
31 Dec 2099
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Source codes that map to this concept
6 source codes normalize to Glutaryl-CoA dehydrogenase deficiency via the OMOP "Maps to" relationship.
| Vocabulary | Code | Name | Type |
|---|---|---|---|
| CIEL | 139379 | Glutaric aciduria, type 1 | Non-standard |
| MeSH | C536833 | Glutaric Acidemia I | Non-standard |
| Nebraska Lexicon | 360416003 | Glutaryl-coenzyme A dehydrogenase deficiency | Non-standard |
| Nebraska Lexicon | 76175005 | Glutaric acidaemia, type 1 | Non-standard |
| Read | C309.00 | Glutaryl CoA dehydrogenase deficiency | Non-standard |
| Read | C30y800 | Glutaric aciduria Type 1 | Non-standard |
Synonyms
Alternative names recorded for Glutaryl-CoA dehydrogenase deficiency across source vocabularies.
- acidemia glutárica tipo 1
- aciduria glutárica tipo 1
- deficiencia de glutaril-CoA deshidrogenasa
- deficiencia de glutaril coenzima A deshidrogenasa
- deficiencia de glutaril coenzima A deshidrogenasa asociada al gen GCDH
- deficiencia de glutaril coenzima A deshidrogenasa (trastorno)
- GA I - glutaric aciduria type 1
- GA I (glutaric aciduria type 1) - GA I (aciduria glutárica tipo 1)
- GCDH-gene related glutaryl-coenzyme A dehydrogenase deficiency
- Glutaric acidaemia type 1
- Glutaric acidemia type 1
- Glutaric aciduria type 1
- Glutaryl-coenzyme A dehydrogenase deficiency
- Glutaryl-coenzyme A dehydrogenase deficiency (disorder)
Where it sits in the hierarchy
Ordered by distance - 1 is a direct parent or child.
Broader concepts
(24)Roll up to these when you need a wider cohort.
- 1Autosomal recessive hereditary disorder
- 1Disorder of lysine and hydroxylysine metabolism
- 1Glutaric aciduria
- 1Inborn error of amino acid metabolism
- 1Inherited metabolic disorder of nervous system
- 2Autosomal hereditary disorder
- 2Disorder of amino acid and organic acid metabolism
- 2Disorder of lysine AND/OR hydroxylysine metabolism
- 2Hereditary disorder of nervous system
- 2Inborn error of metabolism
- 2Non-amino organic acidemia AND/OR aciduria
- 3Congenital disease
- 3Disorder of amino acid metabolism
- 3Disorder of nervous system
- 3Disorder of organic acid metabolism
- 3Hereditary disease
- 3Hereditary disorder by system
- 3Hereditary metabolic disease
- 4Disorder of body system
- 4Disorder of fetus and/or newborn
- 4Genetic disease
- 4Metabolic disease
- 5Disease
- 6Clinical finding
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