Methylmalonic aciduria - homocystinuria type cbl D

Preferred Label : Methylmalonic aciduria - homocystinuria type cbl D;

ICD-11 definition : CblD type methylmalonic acidemia with homocystinuria is a form of methylmalonic acidemia with homocystinuria, an inborn error of vitamin B12 (cobalamin) metabolism characterized by variable biochemical, neurological and hematological manifestations.;

ICD-11 synonym : Methylmalonic acidaemia - homocystinuria type cbl D;

Details

Origin ID

615560358;

UMLS CUI

C1848552;

CISMeF manual mappings
- methylmalonic aciduria and homocystinuria, CblD type [MeSH Supplementary Concept]
Currated CISMeF NLP mapping
- Methylmalonic Aciduria and Homocystinuria, cblD Type [NCIt concept]
- Methylmalonic acidemia with homocystinuria, type cblD [ORDO Disease]
- Methylmalonic aciduria and homocystinuria, cbld type [OMIM Phenotype]
- methylmalonic aciduria and homocystinuria type cblD [DO Concept]
- methylmalonic aciduria and homocystinuria, CblD type [MeSH concept]
See also inter- (CISMeF)
- Methylmalonic acidemia with homocystinuria, type cblX [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Methylcobalamin deficiency type cblDv1 [ORDO Disease]
- Methylmalonic Aciduria and Homocystinuria, cblD Type [NCIt concept]
- Methylmalonic acidemia with homocystinuria, type cblD [ORDO Disease]
- Methylmalonic aciduria and homocystinuria, cbld type [OMIM Phenotype]
- Vitamin B12-responsive methylmalonic acidemia, type cblDv2 [ORDO Disease]
- methylmalonic aciduria and homocystinuria type cblD [DO Concept]
- methylmalonic aciduria and homocystinuria, CblD type [MeSH concept]
- methylmalonic aciduria and homocystinuria, CblD type [MeSH Supplementary Concept]

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