Gaucher's disease

Glucosylceramide beta-glucosidase deficiency (disorder)

active

Code	`190794006`
Semantic tag	disorder
Module	international
Definition	primitive
Effective time	20020131

Synonyms

Cerebroside lipidosis syndrome
Gaucher disease
Gaucher splenomegaly
Gaucher syndrome
Glucocerebrosidase deficiency
Glucocerebrosidosis
Glucosylceramidase deficiency
Glucosylceramide beta-glucosidase deficiency
Kerasin histiocytosis
Kerasin lipoidosis
Kerasin thesaurismosis

Parents (2)

85995004Autosomal recessive hereditary disorder disorder
238028008Sphingolipidosis disorder

Children (5)

12246008Acute neuronopathic Gaucher's disease disorder
1156792000Atypical Gaucher disease due to saposin C deficiency disorder
62201009Chronic non-neuropathic Gaucher's disease disorder
870313002Perinatal lethal Gaucher disease disorder
5963005Subacute neuronopathic Gaucher's disease disorder