congenital disorder of glycosylation type 2A

Preferred Label : congenital disorder of glycosylation type 2A;

MeSH synonym : carbohydrate-deficient glycoprotein syndrome, type 2; congenital disorder of glycosylation, type IIA; CDG2A; CDGIIA; CDG IIA;

Détails

Origin ID

C535752;

UMLS CUI

C2931008;

Currated CISMeF NLP mapping
- Carbohydrate deficient glycoprotein syndrome type 2a (disorder) [SNOMED CT concept]
- Congenital disorder of glycosylation, type iia [OMIM Phenotype]
- MGAT2-CDG [ORDO Disease]
- congenital disorder of glycosylation type IIa [Disease (Nov.)]
- congenital disorder of glycosylation type IIa [DO Concept]
DO Cross reference
- congenital disorder of glycosylation type IIa [DO Concept]
MeSH term(s) associated for indexing
- bone diseases, metabolic [MeSH Descriptor]
- congenital disorders of glycosylation [MeSH Descriptor]
Record concept(s)
- Congenital disorder of glycosylation type 2A [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Carbohydrate deficient glycoprotein syndrome type 2a (disorder) [SNOMED CT concept]
- Carbohydrate-deficient glycoprotein syndrome type II (disorder) [SNOMED CT concept]
- Congenital disorder of glycosylation, type iia [OMIM Phenotype]
- MGAT2-CDG [ORDO Disease]
- congenital disorder of glycosylation type IIa [Disease (Nov.)]
- congenital disorder of glycosylation type IIa [DO Concept]

Position du mot-clé dans l'(les) arborescence(s) :

Vous pouvez consulter :

recommendations
documents concerning education
documents for patients