" /> Phosphomannose isomerase deficiency - CISMeF





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;

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

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07/07/2025


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