OMOP Concept 1075657
Isobutyryl-CoA dehydrogenase deficiency disease
StandardConditionSNOMED1306747001Disorder
Maps from
1
Descendants
0
Valid from
1 Apr 2024
Valid to
31 Dec 2099
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Source codes that map to this concept
1 source code normalizes to Isobutyryl-CoA dehydrogenase deficiency disease via the OMOP "Maps to" relationship.
| Vocabulary | Code | Name | Type |
|---|---|---|---|
| MeSH | C535541 | Isobutyryl-CoA dehydrogenase deficiency | Non-standard |
Synonyms
Alternative names recorded for Isobutyryl-CoA dehydrogenase deficiency disease across source vocabularies.
- ACAD8-gene related deficiency of isobutyryl-coenzyme A dehydrogenase
- deficiencia de isobutiril-coenzima A deshidrogenasa relacionada con el gen ACAD8
- enfermedad por deficiencia de isobutiril-CoA deshidrogenasa
- enfermedad por deficiencia de isobutiril-coenzima A deshidrogenasa
- enfermedad por deficiencia de isobutiril-coenzima A deshidrogenasa (trastorno)
- Isobutyric aciduria
- Isobutyryl-coenzyme A dehydrogenase deficiency disease
- Isobutyryl-coenzyme A dehydrogenase deficiency disease (disorder)
Where it sits in the hierarchy
Ordered by distance - 1 is a direct parent or child.
Broader concepts
(17)Roll up to these when you need a wider cohort.
- 1Autosomal recessive hereditary disorder
- 1Disorder of valine metabolism
- 1Inborn error of amino acid metabolism
- 2Autosomal hereditary disorder
- 2Disorder of amino acid and organic acid metabolism
- 2Disorder of branched-chain amino acid metabolism
- 2Inborn error of metabolism
- 3Congenital disease
- 3Disorder of amino acid metabolism
- 3Hereditary disease
- 3Hereditary metabolic disease
- 4Disorder of fetus and/or newborn
- 4Disorder of organic acid metabolism
- 4Genetic disease
- 4Metabolic disease
- 5Disease
- 6Clinical finding
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