Methylmalonyl-CoA epimerase deficiency

Preferred Label : Methylmalonyl-CoA epimerase deficiency;

MeSH synonym : Methylmalonyl-CoA racemase deficiency;

Origin ID

C565386;

UMLS CUI

C1855100;

CISMeF manual mappings
- Vitamin B12-unresponsive methylmalonic acidemia type mut- [ORDO Disease]
Currated CISMeF NLP mapping
- Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency [ORDO Disease]
- Methylmalonic acidemia due to methylmalonyl-coenzyme A epimerase deficiency (disorder) [SNOMED CT concept]
- Methylmalonyl-CoA epimerase deficiency [ICD-11 More detail]
- Methylmalonyl-coa epimerase deficiency [OMIM Phenotype]
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 [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency [ORDO Disease]
- Methylmalonyl-CoA epimerase deficiency [ICD-11 More detail]
- Methylmalonyl-coa epimerase deficiency [OMIM Phenotype]
- Vitamin B12-unresponsive methylmalonic acidemia type mut- [ORDO Disease]
Validated automatic mappings to BTNT
- Partial deficiency of methylmalonyl-CoA mutase [ICD-11 More detail]