congenital disorder of glycosylation type 1X

Preferred Label : congenital disorder of glycosylation type 1X;

MeSH note : Carbohydrate-deficient glycoprotein syndrome type 1 with profound thrombocytopenia and normal phosphomannomutase and phosphomannose isomerase;

Details

Origin ID

C535751;

UMLS CUI

C2931007;

Currated CISMeF NLP mapping
- Congenital disorder of glycosylation type 1x (disorder) [SNOMED CT concept]
- Congenital disorder of glycosylation, type ix [OMIM Phenotype]
- STT3B-CDG [ORDO Disease]
- congenital disorder of glycosylation Ix [DO Concept]
MeSH term(s) associated for indexing
- congenital disorders of glycosylation [MeSH Descriptor]
- thrombocytopenia [MeSH Descriptor]
Record concept(s)
- Congenital disorder of glycosylation type 1X [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Congenital disorder of glycosylation type 1x (disorder) [SNOMED CT concept]
- Congenital disorder of glycosylation, type ix [OMIM Phenotype]
- STT3B-CDG [ORDO Disease]

Keyword's position in hierarchy(ies) :

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