Methylmalonyl-CoA epimerase deficiency with sepiapterin reductase deficiency

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

Origin ID

C565387;

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 [ICD-11 More detail]
MeSH term(s) associated for indexing
- amino acid metabolism, inborn errors [MeSH Descriptor]
- racemases and epimerases [MeSH Descriptor]
Record concept(s)
- Methylmalonyl-CoA epimerase deficiency with sepiapterin reductase deficiency [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Methylmalonyl-CoA epimerase deficiency with sepiapterin reductase deficiency [ICD-11 More detail]