Acute metabolic disorder	Acute nervous system disorder	Autosomal recessive hereditary disorder	Gaucher's disease	Hereditary disorder of nervous system	Hereditary metabolic disease
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Acute neuronopathic Gaucher's disease (disorder)
	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.
	ziekte van Gaucher type 2

Id	12246008
Status	Primitive

Finding site

Structure of nervous system

Clinical course

Sudden onset AND/OR short duration

DHD Diagnosis thesaurus reference set

ICD-10 complex map reference set

Target	E75.2
Rule	TRUE
Advice	ALWAYS E75.2
Correlation	SNOMED CT source code to target map code correlation not specified