Partial deficiency of methylmalonyl-CoA mutase

Preferred Label : Partial deficiency of methylmalonyl-CoA mutase;

ICD-11 definition : This refers to partial deficiency of an enzyme that catalyzes the isomerization of methylmalonyl-CoA to succinyl-CoA and it is involved in key metabolic pathways. It requires a vitamin B12-derived prosthetic group, adenosylcobalamin, to function.;

ICD-11 synonym : Mutase methylmalonic acidaemia; Mutase methylmalonic aciduria;

Details

Origin ID

1699109188;

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-coenzyme A mutase (disorder) [SNOMED CT concept]
- Vitamin B12-unresponsive methylmalonic acidemia type mut- [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]
See also inter- (CISMeF)
- Vitamin B12-unresponsive methylmalonic acidemia [ORDO Disease]
Validated automatic mappings to NTBT
- Methylmalonyl-CoA epimerase deficiency [MeSH Supplementary Concept]
- Methylmalonyl-coa epimerase deficiency [OMIM Phenotype]

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