Beta-Hydroxyisobutyryl CoA deacylase deficiency

Preferred Label : Beta-Hydroxyisobutyryl CoA deacylase deficiency;

MeSH note : mutation in 3-hydroxyisobutyryl-CoA hydrolase (HIBCH);

MeSH synonym : 3-Hydroxyisobutyryl-CoA hydrolase deficiency; valine metabolic defect; HIBCH deficiency; methacrylic acid toxicity; methacrylic aciduria;

Details

Origin ID

C562803;

UMLS CUI

C0342738;

Automatic exact mappings (from CISMeF team)
- Deficiency of 3-hydroxyisobutyryl coenzyme A hydrolase (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- 3-hydroxyisobutyryl-coa hydrolase deficiency [OMIM Phenotype]
- Beta-hydroxyisobutyryl-CoA deacylase deficiency (disorder) [Inactive SNOMED CT concept]
- Neurodegeneration due to 3-hydroxyisobutyryl coenzyme A hydrolase deficiency (disorder) [SNOMED CT concept]
- Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency [ICD-11 More detail]
- Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency [ORDO Disease]
MeSH term(s) associated for indexing
- abnormalities, multiple [MeSH Descriptor]
- amino acid metabolism, inborn errors [MeSH Descriptor]
- thiolester hydrolases [MeSH Descriptor]
Record concept(s)
- Beta-Hydroxyisobutyryl CoA deacylase deficiency [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- 3-hydroxyisobutyryl-coa hydrolase deficiency [OMIM Phenotype]
- Beta-hydroxyisobutyryl-CoA deacylase deficiency (disorder) [Inactive SNOMED CT concept]
- Deficiency of 3-hydroxyisobutyryl coenzyme A hydrolase (disorder) [SNOMED CT concept]
- Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency [ORDO Disease]

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