Isobutyryl-CoA dehydrogenase deficiency

Preferred Label : Isobutyryl-CoA dehydrogenase deficiency;

MeSH synonym : Acyl-CoA dehydrogenase family, member 8, deficiency of; Isobutyryl-Coenzyme A Dehydrogenase Deficiency;

Details

Origin ID

C535541;

UMLS CUI

C1969809;

Automatic exact mappings (from CISMeF team)
- Isobutyryl-CoA dehydrogenase deficiency [LOINC component]
CISMeF manual mappings
- Deficiency of isobutyryl-coenzyme A dehydrogenase (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Isobutyric aciduria [ICD-11 More detail]
- Isobutyryl-CoA Dehydrogenase Deficiency [NCIt concept]
- Isobutyryl-CoA dehydrogenase deficiency [ORDO Disease]
- Isobutyryl-coa dehydrogenase deficiency [OMIM Phenotype]
- isobutyryl CoA dehydrogenase deficiency [Disease (Nov.)]
MeSH term(s) associated for indexing
- Acyl-CoA dehydrogenase [MeSH Descriptor]
- amino acid metabolism, inborn errors [MeSH Descriptor]
ORDO relation(s)
- Isobutyryl-CoA dehydrogenase deficiency [ORDO Disease]
Record concept(s)
- Isobutyryl-CoA dehydrogenase deficiency [MeSH concept]
See also (suggested by CISMeF)
- 2-methylacyl-CoA dehydrogenase [MeSH Supplementary Concept]
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 [NCIt concept]
- Isobutyryl-CoA dehydrogenase deficiency [ORDO Disease]
- Isobutyryl-CoA dehydrogenase deficiency [LOINC component]
- Isobutyryl-coa dehydrogenase deficiency [OMIM Phenotype]
- isobutyryl CoA dehydrogenase deficiency [Disease (Nov.)]

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