congenital disorder of glycosylation, type IIB

Preferred Label : congenital disorder of glycosylation, type IIB;

MeSH note : mutation in GCS1;

MeSH synonym : glucosidase I deficiency; CDGIIB; CDG IIB; CDG2B;

Details

Origin ID

C565264;

UMLS CUI

C1853736;

Currated CISMeF NLP mapping
- Congenital disorder of glycosylation, type iib [OMIM Phenotype]
- Glucosidase 1 deficiency [ICD-11 More detail]
- MOGS-CDG [ORDO Disease]
- Mannosyl-oligosaccharide glycosidase congenital disorder of glycosylation (disorder) [SNOMED CT concept]
- congenital disorder of glycosylation type IIb [Disease (Nov.)]
- congenital disorder of glycosylation type IIb [DO Concept]
DO Cross reference
- congenital disorder of glycosylation type IIb [DO Concept]
MeSH term(s) associated for indexing
- congenital disorders of glycosylation [MeSH Descriptor]
Record concept(s)
- congenital disorder of glycosylation, type IIB [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Congenital disorder of glycosylation, type iib [OMIM Phenotype]
- MOGS-CDG [ORDO Disease]
- Mannosyl-oligosaccharide glycosidase congenital disorder of glycosylation (disorder) [SNOMED CT concept]
- congenital disorder of glycosylation type IIb [Disease (Nov.)]
- congenital disorder of glycosylation type IIb [DO Concept]

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