Methylmalonic Acidemia, TcblR Type

Preferred Label : Methylmalonic Acidemia, TcblR Type;

NCIt synonyms : Methylmalonic Aciduria, Transient, due to Transcobalamin Receptor Defect; Methylmalonic Aciduria due to Transcobalamin Receptor Defect;

NCIt definition : A genetic condition characterized by methylmalonic aciduria, caused by mutation(s) in the CD320 gene, encoding CD320 antigen.;

Details

Origin ID

C183527;

UMLS CUI

C4749905;

Currated CISMeF NLP mapping
- Methylmalonic aciduria due to transcobalamin receptor defect [ORDO Disease]
- Methylmalonic aciduria due to transcobalamin receptor defect (disorder) [SNOMED CT concept]
- Methylmalonic aciduria, transient, due to transcobalamin receptor defect [OMIM Phenotype]
- methylmalonic acidemia due to transcobalamin receptor defect [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Methylmalonic aciduria due to transcobalamin receptor defect (disorder) [SNOMED CT concept]
- Methylmalonic aciduria, transient, due to transcobalamin receptor defect [OMIM Phenotype]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- CD320 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients