ziekte van Gaucher type 2 (aandoening)
ziekte van Gaucher type 2
Acute neuronopathic Gaucher's disease
Cerebral acute Gaucher disease
Glucocerebrosidase deficiency type II
Infantile Gaucher's disease
Infantile cerebral Gaucher's disease
Glucosylceramidase deficiency, acute type
Acute neuronopathic Gaucher disease
Infantile Gaucher disease
Acute cerebral Gaucher's disease
Gaucher's disease, type II
The acute neurological form of Gaucher with characteristics of early-onset and severe neurological involvement of the brainstem, associated with an organomegaly and generally leading to death before the age of 2. The disease usually presents in infants aged 3 to 6 months with systemic manifestations of hepatosplenomegaly and an early onset and severe neurological syndrome. This is a lysosomal storage disease caused by a mutation in the GBA gene (1q21) that codes for the lysosomal enzyme, glucocerebrosidase. The deficiency in glucocerebrosidase leads to the accumulation of glucosylceramidase (or beta-glucocerebrosidase) deposits in the cells of the reticuloendothelial system of the liver, of the spleen and the bone marrow (Gaucher cells). Transmission is autosomal recessive.
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TermOverige gespecificeerde sfingolipidosen
SNOMED CT to Orphanet simple map77260
SNOMED CT to ICD-10 extended map
AdviceALWAYS E75.2
CorrelationSNOMED CT source code to target map code correlation not specified