Preferred Label : Gaucher disease type 3;
ICD-11 definition : Gaucher disease type 3 is the subacute neurological form of Gaucher disease (a lysosomal
storage disorder caused by a deficiency in glucocerebrosidase) characterized by progressive
encephalopathy and associated with the systemic manifestations (organomegaly, bone
involvement, cytopenia) of GD type 1 (see this term).;
ICD-11 synonym : Cerebral juvenile and adult form of Gaucher disease; Subacute neuronopathic Gaucher disease; Chronic neuronopathic Gaucher disease; Norrbotnian Gaucher disease; Juvenile Gaucher disease;
Origin ID : 312650726;
Automatic exact mappings (from CISMeF team)
Gaucher disease type 3 is the subacute neurological form of Gaucher disease (a lysosomal
storage disorder caused by a deficiency in glucocerebrosidase) characterized by progressive
encephalopathy and associated with the systemic manifestations (organomegaly, bone
involvement, cytopenia) of GD type 1 (see this term).
