congenital disorder of glycosylation type II

Preferred Label : congenital disorder of glycosylation type II;

MeSH synonym : CDGII; CDG II; congenital disorder of glycosylation, type II;

Origin ID

C535747;

UMLS CUI

C5574948;

Automatic exact mappings (from CISMeF team)
- ALG2 alpha-1,3/1,6-mannosyltransferase [ORDO Gene]
- Congenital disorder of glycosylation, type iy [OMIM Phenotype]
- Congenital disorders of glycosylation, type II [OMIM phenotypic series]
- SSR4-CDG [ORDO Disease]
- immunodeficiency 47 [DO Concept]
CISMeF manual mappings
- Carbohydrate-deficient glycoprotein syndrome type II (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- ALG2-CDG [ORDO Disease]
- congenital disorder of glycosylation type II [DO Concept]
- congenital disorder of glycosylation type II [Disease (Nov.)]
MeSH term(s) associated for indexing
- congenital disorders of glycosylation [MeSH Descriptor]
Record concept(s)
- congenital disorder of glycosylation type II [MeSH concept]
See also inter- (CISMeF)
- Congenital disorder of glycosylation, type II [OMIM Phenotype]
- Immunodeficiency 47 [OMIM Phenotype]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- ALG2-CDG [ORDO Disease]
- Congenital disorder of glycosylation, type II [OMIM Phenotype]
Validated automatic mappings to BTNT
- Congenital disorder of glycosylation type 1i (disorder) [SNOMED CT concept]