Congenital Disorder of Glycosylation Type Ic

Preferred Label : Congenital Disorder of Glycosylation Type Ic;

NCIt synonyms : CDGIc;

NCIt definition : A congenital disorder of glycosylation sub-type caused by mutation(s) in the ALG6 gene, encoding dolichyl pyrophosphate Man9GlcNAc2 alpha-1,3-glucosyltransferase.;

Details

Origin ID

C126869;

UMLS CUI

C2930997;

Automatic exact mappings (from CISMeF team)
- Leukocyte adhesion deficiency type II [ORDO Disease]
Currated CISMeF NLP mapping
- ALG6-CDG [ORDO Disease]
- Congenital disorder of glycosylation type 1C [MeSH concept]
- Congenital disorder of glycosylation type 1c (disorder) [SNOMED CT concept]
- Congenital disorder of glycosylation, type ic [OMIM Phenotype]
- congenital disorder of glycosylation type 1C [MeSH Supplementary Concept]
See also inter- (CISMeF)
- Congenital disorder of glycosylation, type ik [OMIM Phenotype]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- ALG6-CDG [ORDO Disease]
- Congenital disorder of glycosylation type 1C [MeSH concept]
- Congenital disorder of glycosylation type 1c (disorder) [SNOMED CT concept]
- Congenital disorder of glycosylation, type ic [OMIM Phenotype]
- congenital disorder of glycosylation type 1C [MeSH Supplementary Concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- ALG6 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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