Phosphomannose isomerase deficiency

Preferred Label : Phosphomannose isomerase deficiency;

ICD-11 definition : CDG syndrome type Ib is a Congenital Disorder of Glycosylation characterised by hepatic-intestinal manifestations (diarrhoea, vomiting, and hepatomegaly associated with hepatic fibrosis).;

ICD-11 synonym : Saguenay-Lac-Saint-Jean syndrome; Congenital disorder of glycosylation type 1B; CDG syndrome type 1B; SLSJ syndrome; Carbohydrate deficient glycoprotein syndrome type 1B; CDG - [Congenital disorder of glycosylation] syndrome type 1B; SLSJ - [Saguenay-Lac-Saint-Jean] syndrome;

Details

Origin ID

803079134;

Currated CISMeF NLP mapping
- Congenital disorder of glycosylation type 1B [MeSH concept]
- 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]
- congenital disorder of glycosylation Ib [DO Concept]
- congenital disorder of glycosylation type 1B [MeSH Supplementary Concept]

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