12246008: Acute neuronopathic Gaucher's disease (disorder)

• SNOMED CT Concept\Clinical finding\Disease\...
• \Genetic disease\Hereditary disease\...
• \Hereditary disorder by system\Hereditary disorder of nervous system\Acute neuronopathic Gaucher's disease
• \Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Acute neuronopathic Gaucher's disease
• \Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Acute neuronopathic Gaucher's disease
• \Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Acute neuronopathic Gaucher's disease
• \Disorder of body system\Neurological disorder\Acute nervous system disorder\Acute neuronopathic Gaucher's disease
• \Metabolic disease\Acute metabolic disorder\Acute neuronopathic Gaucher's disease
• \Metabolic disease\Disorder of lipoprotein AND/OR lipid metabolism\Disorder of lipid storage and metabolism\Sphingolipidosis\Gaucher's disease\Acute neuronopathic Gaucher's disease
• \Acute disease\Acute nervous system disorder\Acute neuronopathic Gaucher's disease
• \Acute disease\Acute metabolic disorder\Acute neuronopathic Gaucher's disease

Status: current, Primitive. Date: 31-Jul 2021. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
1220606014	Glucocerebrosidase deficiency type II	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
1220607017	Acute neuronopathic Gaucher disease	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
1220608010	Infantile Gaucher disease	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
1220609019	Cerebral acute Gaucher disease	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
21084010	Acute neuronopathic Gaucher's disease	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
21085011	Infantile Gaucher's disease	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
21086012	Gaucher's disease, type II	en	Synonym	Active	Case sensitive	SNOMED CT core
21087015	Acute cerebral Gaucher's disease	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
21088013	Glucosylceramidase deficiency, acute type	en	Synonym	Active	Case insensitive	SNOMED CT core
21089017	Infantile cerebral Gaucher's disease	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
723714011	Acute neuronopathic Gaucher's disease (disorder)	en	Fully specified name	Active	Initial character case insensitive	SNOMED CT core
4543095013	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.	en	Definition	Active	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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