Methylmalonic aciduria, vitamin B12 responsive

Preferred Label : Methylmalonic aciduria, vitamin B12 responsive;

ICD-11 definition : Vitamin B12-responsive methylmalonic acidemia (MA) is an inborn error of vitamin B12 (cobalamin) metabolism characterized by recurrent ketoacidotic comas or transient vomiting, dehydration, hypotonia and intellectual deficit, which responds to vitamin B12. There are three types: cblA, cblB and cblD-variant 2 (cblDv2).;

ICD-11 synonym : Adenosylcobalamin deficiency;

Details

Origin ID

1135248720;

UMLS CUI

C0342720;

Currated CISMeF NLP mapping
- Adenosylcobalamin synthesis defect (disorder) [SNOMED CT concept]
- Vitamin B12-responsive methylmalonic acidemia [ORDO Disease]
- adenosylcobalamin synthesis defect, nos [SNOMED Notion]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Adenosylcobalamin synthesis defect (disorder) [SNOMED CT concept]
- Vitamin B12-responsive methylmalonic acidemia [ORDO Disease]
- adenosylcobalamin synthesis defect, nos [SNOMED Notion]

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