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;
Origin ID : 803079134;
Currated CISMeF NLP mapping
CDG syndrome type Ib is a Congenital Disorder of Glycosylation characterised by hepatic-intestinal
manifestations (diarrhoea, vomiting, and hepatomegaly associated with hepatic fibrosis).