Methylmalonyl-CoA epimerase deficiency with sepiapterin reductase deficiency

Preferred Label : Methylmalonyl-CoA epimerase deficiency with sepiapterin reductase deficiency;

ICD-11 definition : This refers to deficiency of an enzyme that catalyzes the isomerization of methylmalonyl-CoA to succinyl-CoA and it is involved in key metabolic pathways. It requires a vitamin B12-derived prosthetic group, adenosylcobalamin, to function. This diagnosis is with sepiapterin reductase deficiency.;

ICD-11 synonym : Methylmalonyl-CoA racemase deficiency with sepiapterin reductase deficiency;

Details

Origin ID

1464831299;

UMLS CUI

C1855101;

Automatic exact mappings (from CISMeF team)
- Methylmalonyl-coa epimerase deficiency [OMIM Phenotype]
Currated CISMeF NLP mapping
- Methylmalonyl-CoA epimerase deficiency with sepiapterin reductase deficiency [MeSH concept]
- Methylmalonyl-CoA epimerase deficiency with sepiapterin reductase deficiency [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Methylmalonyl-CoA epimerase deficiency with sepiapterin reductase deficiency [MeSH concept]
- Methylmalonyl-CoA epimerase deficiency with sepiapterin reductase deficiency [MeSH Supplementary Concept]

Keyword's position in hierarchy(ies) :

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