Glutaric aciduria type 3

Preferred Label : Glutaric aciduria type 3;

ICD-11 definition : Glutaryl-CoA oxidase deficiency is a peroxisomal disorder leading to glutaric aciduria. The prevalence is unknown. There is no distinctive phenotype associated with this disorder and one of the reported cases was asymptomatic. Transmission appears to be autosomal recessive.;

ICD-11 synonym : Glutaric acidaemia type 3; Glutaryl-CoA oxidase deficiency;

Details

Origin ID

627751573;

UMLS CUI

C0342873;

Currated CISMeF NLP mapping
- Glutaric acidemia type 3 [ORDO Disease]
- Glutaric aciduria III [OMIM Phenotype]
- Glutaryl-coenzyme A oxidase deficiency (disorder) [SNOMED CT concept]
- glutaric acidemia type 3 [DO Concept]
- glutaric aciduria III [MeSH concept]
- glutaric aciduria III [MeSH Supplementary Concept]
- glutaric aciduria type 3 [Disease (Nov.)]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Glutaric acidemia type 3 [ORDO Disease]
- Glutaric aciduria III [OMIM Phenotype]
- Glutaryl-coenzyme A oxidase deficiency (disorder) [SNOMED CT concept]
- glutaric aciduria III [MeSH concept]
- glutaric aciduria III [MeSH Supplementary Concept]
- glutaric aciduria type 3 [Disease (Nov.)]

Keyword's position in hierarchy(ies) :

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