methylmalonic aciduria due to Methylmalonyl-CoA mutase deficiency

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

MeSH note : mutation in methylmalonyl-CoA mutase gene (MUT); mut(0) is complete enzyme deficiency; mut(-) is partial enzyme deficiency.;

CISMeF synonym : methylmalonic aciduria, mut(-) type; methylmalonic aciduria, mut(0) type;

MeSH synonym : methylmalonic aciduria, MUT type; MMA due to MCM deficiency; methylmalonic acidemia due to Methylmalonyl-CoA mutase deficiency;

Details

Origin ID

C565390;

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]
MeSH term(s) associated for indexing
- Methylmalonyl-CoA mutase [MeSH Descriptor]
- amino acid metabolism, inborn errors [MeSH Descriptor]
Record concept(s)
- methylmalonic aciduria due to Methylmalonyl-CoA mutase deficiency [MeSH concept]
- methylmalonic aciduria, mut(-) type [MeSH concept]
- methylmalonic aciduria, mut(0) type [MeSH concept]
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]
Validated automatic mappings to NTBT
- Vitamin B12-unresponsive methylmalonic acidemia [ORDO Disease]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients