methylmalonic aciduria cblA type

Preferred Label : methylmalonic aciduria cblA type;

MeSH note : Methylmalonic aciduria, vitamin b12-responsive, due to defect in synthesis of adenosylcobalamin, cbla complementation type; mutation in MMAA; Methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblA type;

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

Details

Origin ID

C537360;

UMLS CUI

C1855109;

Currated CISMeF NLP mapping
- Methylmalonic Aciduria, cblA Type [NCIt concept]
- Methylmalonic aciduria, cbla type [OMIM Phenotype]
- Vitamin B12 responsive methylmalonic aciduria type cbl A [ICD-11 More detail]
- Vitamin B12-responsive methylmalonic acidemia type cblA [ORDO Disease]
- methylmalonic acidemia cblA 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 cblA [ORDO Disease]
Record concept(s)
- Methylmalonic aciduria cblA type [MeSH concept]
See also (suggested by CISMeF)
- methylmalonic acid [MeSH Descriptor]
- methylmalonic acid [MeSH Descriptor]
See also inter- (CISMeF)
- Vitamin B12-responsive methylmalonic acidemia type cblA [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Methylmalonic Aciduria, cblA Type [NCIt concept]
- Methylmalonic aciduria, cbla type [OMIM Phenotype]
- Vitamin B12 responsive methylmalonic aciduria type cbl A [ICD-11 More detail]
- Vitamin B12-responsive methylmalonic acidemia type cblA [ORDO Disease]
- methylmalonic acidemia cblA type [DO Concept]

Keyword's position in hierarchy(ies) :

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