congenital disorder of glycosylation type 1L

Preferred Label : congenital disorder of glycosylation type 1L;

MeSH synonym : congenital disorder of glycosylation, type IL;

Origin ID

C535750;

UMLS CUI

C2931006;

Automatic exact mappings (from CISMeF team)
- ALG2-CDG [ORDO Disease]
Currated CISMeF NLP mapping
- ALG9-CDG [ORDO Disease]
- Asparagine-linked glycosylation 9 congenital disorder of glycosylation (disorder) [SNOMED CT concept]
- Congenital disorder of glycosylation, type il [OMIM Phenotype]
- Mannosyltransferase 7-9 deficiency [ICD-11 More detail]
MeSH term(s) associated for indexing
- congenital disorders of glycosylation [MeSH Descriptor]
Record concept(s)
- Congenital disorder of glycosylation type 1L [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- ALG9-CDG [ORDO Disease]
- Asparagine-linked glycosylation 9 congenital disorder of glycosylation (disorder) [SNOMED CT concept]
- Congenital disorder of glycosylation, type il [OMIM Phenotype]