Vitamin B12 responsive methylmalonic aciduria type cbl B

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

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

Details

Origin ID

1930335115;

UMLS CUI

C1855102;

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

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients