Vitamin B12 responsive methylmalonic aciduria type cbl A

Preferred Label : Vitamin B12 responsive methylmalonic aciduria type cbl A;

ICD-11 definition : This refers to vitamin B12 responsive, type cbl A, stemming from several genotypes, all forms of the disorder usually diagnosed in the early neonatal period, presenting progressive encephalopathy, and secondary hyperammonemia.;

Détails

Origin ID

512037803;

UMLS CUI

C1855109;

CISMeF manual mappings
- Vitamin B12-responsive methylmalonic acidemia type cblA [ORDO Disease]
Currated CISMeF NLP mapping
- Methylmalonic Aciduria, cblA Type [NCIt concept]
- Methylmalonic aciduria cblA type [MeSH concept]
- Methylmalonic aciduria, cbla type [OMIM Phenotype]
- methylmalonic acidemia cblA type [DO Concept]
- methylmalonic aciduria cblA type [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Methylmalonic Aciduria, cblA Type [NCIt concept]
- Methylmalonic aciduria cblA type [MeSH concept]
- Methylmalonic aciduria, cbla type [OMIM Phenotype]
- Vitamin B12-responsive methylmalonic acidemia type cblA [ORDO Disease]
- methylmalonic acidemia cblA type [DO Concept]
- methylmalonic aciduria cblA type [MeSH Supplementary Concept]

Position du mot-clé dans l'(les) arborescence(s) :

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