Isobutyryl-CoA Dehydrogenase Deficiency

Preferred Label : Isobutyryl-CoA Dehydrogenase Deficiency;

NCIt definition : An inherited condition caused by mutation(s) in the ACAD8 gene, encoding isobutyryl-CoA dehydrogenase, mitochondrial. It is characterized by decreased concentrations of carnitine in the blood, encephalopathy, dilated cardiomyopathy, and anemia.;

Details

Origin ID

C129975;

UMLS CUI

C1969809;

Automatic exact mappings (from CISMeF team)
- Isobutyryl-CoA dehydrogenase deficiency [LOINC component]
Currated CISMeF NLP mapping
- Deficiency of isobutyryl-coenzyme A dehydrogenase (disorder) [SNOMED CT concept]
- Isobutyric aciduria [ICD-11 More detail]
- Isobutyryl-CoA dehydrogenase deficiency [MeSH Supplementary Concept]
- Isobutyryl-CoA dehydrogenase deficiency [MeSH concept]
- Isobutyryl-CoA dehydrogenase deficiency [ORDO Disease]
- Isobutyryl-coa dehydrogenase deficiency [OMIM Phenotype]
- isobutyryl CoA dehydrogenase deficiency [Disease (Nov.)]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Deficiency of isobutyryl-coenzyme A dehydrogenase (disorder) [SNOMED CT concept]
- Isobutyric aciduria [ICD-11 More detail]
- Isobutyryl-CoA dehydrogenase deficiency [ORDO Disease]
- Isobutyryl-CoA dehydrogenase deficiency [MeSH Supplementary Concept]
- Isobutyryl-CoA dehydrogenase deficiency [MeSH concept]
- Isobutyryl-CoA dehydrogenase deficiency [LOINC component]
- Isobutyryl-coa dehydrogenase deficiency [OMIM Phenotype]
- isobutyryl CoA dehydrogenase deficiency [Disease (Nov.)]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- ACAD8 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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