Methylmalonic aciduria - homocystinuria type cbl F

Preferred Label : Methylmalonic aciduria - homocystinuria type cbl F;

ICD-11 definition : CblF 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 F;

Details

Origin ID

680621786;

UMLS CUI

C1848578;

Currated CISMeF NLP mapping
- Methylmalonic acidemia with homocystinuria type cblF [ORDO Disease]
- Methylmalonic aciduria and homocystinuria, cblf type [OMIM Phenotype]
- methylmalonic aciduria and homocystinuria type cblF [DO Concept]
- methylmalonic aciduria and homocystinuria, CblF type [MeSH concept]
- methylmalonic aciduria and homocystinuria, CblF type [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Methylmalonic Aciduria and Homocystinuria, cblF Type [NCIt concept]
- Methylmalonic acidemia with homocystinuria type cblF [ORDO Disease]
- Methylmalonic aciduria and homocystinuria, cblf type [OMIM Phenotype]
- methylmalonic aciduria and homocystinuria type cblF [DO Concept]
- methylmalonic aciduria and homocystinuria, CblF type [MeSH concept]
- methylmalonic aciduria and homocystinuria, CblF type [MeSH Supplementary Concept]

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