Congenital disorder of glycosylation type 2D

Preferred Label : Congenital disorder of glycosylation type 2D;

UMLS semantic type : T047 - Disease or Syndrome;

Origin ID

M0530214;

UMLS CUI

C2931009;

Currated CISMeF NLP mapping
- B4GALT1-CDG [ORDO Disease]
- Beta-1,4-galactosyltransferase deficiency [ICD-11 More detail]
- Carbohydrate deficient glycoprotein syndrome type 2d (disorder) [SNOMED CT concept]
- Congenital disorder of glycosylation, type iid [OMIM Phenotype]
- congenital disorder of glycosylation type IId [DO Concept]
- congenital disorder of glycosylation type IId [Disease (Nov.)]
Related record
- congenital disorder of glycosylation type 2D [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- B4GALT1-CDG [ORDO Disease]
- Carbohydrate deficient glycoprotein syndrome type 2d (disorder) [SNOMED CT concept]
- Congenital disorder of glycosylation, type iid [OMIM Phenotype]
- congenital disorder of glycosylation type IId [DO Concept]