OMOP Concept 4336976
Isovaleryl-CoA dehydrogenase deficiency
StandardConditionSNOMED87827003Disorder
Maps from
4
Descendants
0
Valid from
31 Jan 2002
Valid to
31 Dec 2099
OMOP concepts
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Source codes that map to this concept
4 source codes normalize to Isovaleryl-CoA dehydrogenase deficiency via the OMOP "Maps to" relationship.
| Vocabulary | Code | Name | Type |
|---|---|---|---|
| CIEL | 136457 | Isovaleric acidaemia | Non-standard |
| HPO | HP_0033148 | Increased circulating isovaleric acid concentration | Non-standard |
| ICD10CM | E71.110 | Isovaleric acidemia | Non-standard |
| MeSH | C538167 | Acidemia, isovaleric | Non-standard |
Synonyms
Alternative names recorded for Isovaleryl-CoA dehydrogenase deficiency across source vocabularies.
- acidemia isovalérica
- deficiencia de CoA deshidrogenasa del ácido isovalérico
- deficiencia de isovaleril-CoA deshidrogenasa
- deficiencia de isovaleril coenzima A deshidrogenasa
- deficiencia de isovaleril coenzima A deshidrogenasa asociada al gen IVD
- deficiencia de isovaleril coenzima A deshidrogenasa (trastorno)
- Isovaleric acidaemia
- Isovaleric acid CoA dehydrogenase deficiency
- Isovaleric acid-CoA dehydrogenase deficiency
- Isovaleric acidemia
- Isovaleryl-coenzyme A dehydrogenase deficiency
- Isovaleryl-coenzyme A dehydrogenase deficiency (disorder)
- IVD-gene related isovaleryl-coenzyme A dehydrogenase deficiency
Where it sits in the hierarchy
Ordered by distance - 1 is a direct parent or child.
Broader concepts
(18)Roll up to these when you need a wider cohort.
- 1Acidemia
- 1Autosomal recessive hereditary disorder
- 1Disorder of branched-chain amino acid metabolism
- 1Enzymopathy
- 1Inborn error of metabolism
- 2Autosomal hereditary disorder
- 2Congenital disease
- 2Disorder of acid-base balance
- 2Disorder of amino acid and organic acid metabolism
- 2Hereditary metabolic disease
- 2Metabolic disease
- 3Disease
- 3Disorder of amino acid metabolism
- 3Fetal and/or neonatal disorder
- 3Hereditary disease
- 4Clinical finding
- 4Disorder of organic acid metabolism
- 4Genetic disease
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