congenital disorder of glycosylation, type IIF

Preferred Label : congenital disorder of glycosylation, type IIF;

MeSH note : mutation in SLC35A1;

MeSH synonym : CDG2F; CDGIIF; CDG IIF;

Details

Origin ID

C567040;

UMLS CUI

C1970344;

Currated CISMeF NLP mapping
- CMP-sialic acid transporter deficiency [ICD-11 More detail]
- Congenital disorder of glycosylation, type iif [OMIM Phenotype]
- SLC35A1-CDG [ORDO Disease]
- Solute carrier family 35 member A1 congenital disorder of glycosylation (disorder) [SNOMED CT concept]
- congenital disorder of glycosylation type IIf [Disease (Nov.)]
- congenital disorder of glycosylation type IIf [DO Concept]
DO Cross reference
- congenital disorder of glycosylation type IIf [DO Concept]
MeSH term(s) associated for indexing
- congenital disorders of glycosylation [MeSH Descriptor]
Record concept(s)
- congenital disorder of glycosylation, type IIF [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Congenital disorder of glycosylation, type iif [OMIM Phenotype]
- SLC35A1-CDG [ORDO Disease]
- Solute carrier family 35 member A1 congenital disorder of glycosylation (disorder) [SNOMED CT concept]
- congenital disorder of glycosylation type IIf [Disease (Nov.)]
- congenital disorder of glycosylation type IIf [DO Concept]

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