congenital disorder of glycosylation, type IIID

Preferred Label : congenital disorder of glycosylation, type IIID;

MeSH note : mutation of B4GALT1;

MeSH synonym : CDGIID; CDG IID; CDG2D;

Details

Origin ID

C564625;

UMLS CUI

C1846816;

Automatic exact mappings (from CISMeF team)
- B4GALT1 wt Allele [NCIt concept]
- congenital disorder of glycosylation type IIe [DO Concept]
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 [Disease (Nov.)]
- 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 IIID [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Congenital disorder of glycosylation, type iid [OMIM Phenotype]
- congenital disorder of glycosylation type IId [Disease (Nov.)]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients