Methylmalonic aciduria - homocystinuria type cbl C

Preferred Label : Methylmalonic aciduria - homocystinuria type cbl C;

ICD-11 definition : CblC type methylmalonic acidemia with homocystinuria is a form of methylmalonic acidemia with homocystinuria, an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures.;

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

Details

Origin ID

1633413170;

UMLS CUI

C1848561;

CISMeF manual mappings
- Methylmalonic aciduria and homocystinuria, cblc type [OMIM Phenotype]
Currated CISMeF NLP mapping
- Methylmalonic Aciduria and Homocystinuria, cblC Type [NCIt concept]
- Methylmalonic acidemia with homocystinuria, type cblC [ORDO Disease]
- methylmalonic aciduria and homocystinuria type cblC [DO 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)
- Cobalamin C disease (disorder) [SNOMED CT concept]
- Methylmalonic Aciduria and Homocystinuria, cblC Type [NCIt concept]
- Methylmalonic acidemia with homocystinuria [MeSH concept]
- Methylmalonic acidemia with homocystinuria [ORDO Disease]
- Methylmalonic acidemia with homocystinuria, type cblC [ORDO Disease]
- Methylmalonic aciduria and homocystinuria, cblc type [OMIM Phenotype]
- cobalamin c disease [SNOMED Notion]
- methylmalonic acidemia with homocystinuria [MeSH Supplementary Concept]
- methylmalonic aciduria and homocystinuria type cblC [DO Concept]
Validated automatic mappings to NTBT
- Methylmalonic acidemia with homocystinuria [MeSH concept]
- methylmalonic acidemia with homocystinuria [MeSH Supplementary Concept]

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