methylmalonic aciduria cblB type

Preferred Label : methylmalonic aciduria cblB type;

MeSH note : Methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB type;

MeSH synonym : methylmalonic acidemia cblB type; methylmalonic aciduria, cblB type; methylmalonic acidemia, cblB type;

Details

Origin ID

C537361;

UMLS CUI

C1855102;

CISMeF manual mappings
- Vitamin B12 responsive methylmalonic aciduria type cbl B [ICD-11 More detail]
Currated CISMeF NLP mapping
- Methylmalonic Aciduria, cblB Type [NCIt concept]
- Methylmalonic aciduria, cblb type [OMIM Phenotype]
- Vitamin B12-responsive methylmalonic acidemia type cblB [ORDO Disease]
- methylmalonic acidemia cblB type [DO Concept]
Has phenotype(s) (HPO)
- Feeding difficulties [HPO term]
MeSH term(s) associated for indexing
- amino acid metabolism, inborn errors [MeSH Descriptor]
ORDO relation(s)
- Vitamin B12-responsive methylmalonic acidemia type cblB [ORDO Disease]
Record concept(s)
- Methylmalonic aciduria cblB type [MeSH concept]
See also (suggested by CISMeF)
- methylmalonic acid [MeSH Descriptor]
See also inter- (CISMeF)
- Vitamin B12-responsive methylmalonic acidemia type cblB [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Methylmalonic Aciduria, cblB Type [NCIt concept]
- Methylmalonic aciduria, cblb type [OMIM Phenotype]
- Vitamin B12 responsive methylmalonic aciduria type cbl B [ICD-11 More detail]
- Vitamin B12-responsive methylmalonic acidemia type cblB [ORDO Disease]
- methylmalonic acidemia cblB type [DO Concept]

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