Methylmalonic Aciduria Due to Methylmalonyl-CoA Mutase Deficiency

Preferred Label : Methylmalonic Aciduria Due to Methylmalonyl-CoA Mutase Deficiency;

NCIt synonyms : Methylmalonic Aciduria, Mut Type;

NCIt definition : An autosomal recessive form of methylmalonic aciduria caused by mutation(s) in the MUT gene, encoding methylmalonyl-CoA mutase, mitochondrial.;

Details

Origin ID

C148366;

UMLS CUI

C1855114;

Automatic exact mappings (from CISMeF team)
- methylmalonic aciduria, mut(-) type [MeSH concept]
Currated CISMeF NLP mapping
- Methylmalonic aciduria due to methylmalonyl-coa mutase deficiency [OMIM Phenotype]
- Methylmalonic aciduria, vitamin B12 unresponsive [ICD-11 More detail]
- Methylmalonyl-Coenzyme A mutase deficiency [MeSH concept]
- Methylmalonyl-Coenzyme A mutase deficiency [MeSH Supplementary Concept]
- 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 [ORDO Disease]
- 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 [MeSH Supplementary Concept]
- methylmalonic aciduria due to Methylmalonyl-CoA mutase deficiency [MeSH concept]
- methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same 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 [MeSH concept]
- methylmalonic aciduria due to Methylmalonyl-CoA mutase deficiency [MeSH Supplementary Concept]
- methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [DO Concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- MMUT Gene [NCIt concept]

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