congenital disorder of glycosylation type 2D

Preferred Label : congenital disorder of glycosylation type 2D;

CISMeF acronym : CDG2D; CDG IID; CDGIID;

Origin ID

C535753;

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.)]
DO Cross reference
- congenital disorder of glycosylation type IId [DO Concept]
MeSH term(s) associated for indexing
- congenital disorders of glycosylation [MeSH Descriptor]
Record concept(s)
- Congenital disorder of glycosylation type 2D [MeSH 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]