methylmalonic aciduria due to Methylmalonyl-CoA mutase deficiency

Preferred Label : methylmalonic aciduria due to Methylmalonyl-CoA mutase deficiency;

UMLS semantic type : T047 - Disease or Syndrome;

Origin ID

M0565690;

UMLS CUI

C1855114;

Currated CISMeF NLP mapping
- Methylmalonic Aciduria Due to Methylmalonyl-CoA Mutase Deficiency [NCIt concept]
- Methylmalonic aciduria due to methylmalonyl-coa mutase deficiency [OMIM Phenotype]
- Partial deficiency of methylmalonyl-CoA mutase [ICD-11 More detail]
- Partial deficiency of methylmalonyl-coenzyme A mutase (disorder) [SNOMED CT concept]
- Vitamin B12-unresponsive methylmalonic acidemia type mut- [ORDO Disease]
- Vitamin B12-unresponsive methylmalonic acidemia type mut0 [ORDO Disease]
- methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [DO Concept]
Related MeSH concept(s)
- methylmalonic aciduria, mut(-) type [MeSH concept]
- methylmalonic aciduria, mut(0) type [MeSH concept]
Related record
- methylmalonic aciduria due to Methylmalonyl-CoA mutase deficiency [MeSH Supplementary Concept]
See also inter- (CISMeF)
- Vitamin B12-unresponsive methylmalonic acidemia [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Methylmalonic Aciduria Due to Methylmalonyl-CoA Mutase Deficiency [NCIt concept]
- Methylmalonic aciduria due to methylmalonyl-coa mutase deficiency [OMIM Phenotype]
- Vitamin B12-unresponsive methylmalonic acidemia [ORDO Disease]
- Vitamin B12-unresponsive methylmalonic acidemia type mut0 [ORDO Disease]
- methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [DO Concept]