congenital disorder of glycosylation type 1C

Preferred Label : congenital disorder of glycosylation type 1C;

MeSH note : Carbohydrate-deficient glycoprotein syndrome, type 1 with deficient glycosylation of dolichol-linked oligosaccharide;

MeSH synonym : carbohydrate-deficient glycoprotein syndrome type V; congenital disorder of glycosylation, type ic;

Details

Origin ID

C535741;

UMLS CUI

C2930997;

Automatic exact mappings (from CISMeF team)
- Glucosyltransferase 1 deficiency [ICD-11 More detail]
CISMeF manual mappings
- Congenital disorder of glycosylation type 1c (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- ALG6-CDG [ORDO Disease]
- Congenital Disorder of Glycosylation Type Ic [NCIt concept]
- Congenital disorder of glycosylation, type ic [OMIM Phenotype]
MeSH term(s) associated for indexing
- congenital disorders of glycosylation [MeSH Descriptor]
Record concept(s)
- Congenital disorder of glycosylation type 1C [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- ALG6-CDG [ORDO Disease]
- Congenital Disorder of Glycosylation Type Ic [NCIt concept]
- Congenital disorder of glycosylation type 1c (disorder) [SNOMED CT concept]
- Congenital disorder of glycosylation, type ic [OMIM Phenotype]

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