congenital disorder of glycosylation type 1B

Preferred Label : congenital disorder of glycosylation type 1B;

MeSH synonym : mannosephosphate isomerase deficiency; Saguenay-Lac Saint-Jean syndrome; carbohydrate-deficient glycoprotein syndrome type 1B; protein-losing enteropathy-hepatic fibrosis syndrome;

Details

Origin ID

C535740;

UMLS CUI

C1865145;

Currated CISMeF NLP mapping
- Congenital disorder of glycosylation, type ib [OMIM Phenotype]
- Deficiency of mannose-6-phosphate isomerase (disorder) [SNOMED CT concept]
- MPI-CDG [ORDO Disease]
- Mannosephosphate isomerase congenital disorder of glycosylation (disorder) [SNOMED CT concept]
- Phosphomannose isomerase deficiency [ICD-11 More detail]
- congenital disorder of glycosylation Ib [DO Concept]
MeSH term(s) associated for indexing
- congenital disorders of glycosylation [MeSH Descriptor]
- mannose-6-phosphate isomerase [MeSH Descriptor]
Record concept(s)
- Congenital disorder of glycosylation type 1B [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Congenital disorder of glycosylation, type ib [OMIM Phenotype]
- MPI-CDG [ORDO Disease]
- Mannosephosphate isomerase congenital disorder of glycosylation (disorder) [SNOMED CT concept]

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