" /> 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;

Détails


Vous pouvez consulter :

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

Nous contacter.
29/07/2025


[Accueil] [Haut de page]

© CHU de Rouen. Toute utilisation partielle ou totale de ce document doit mentionner la source.