12246008: Acute neuronopathic Gaucher's disease (disorder)

• SNOMED CT Concept\Clinical finding (finding)\Disease\...
• \Genetic disease\Hereditary disease\...
• \Hereditary metabolic disease\Inborn error of metabolism\...
• \Inherited metabolic disorder of nervous system\Gaucher disease type 2 is the acute neurological form of Gaucher disease. It is characterised by early-onset and severe neurological involvement of the brainstem, associated with an organomegaly and generally leading to death before the age of 2.
• \Storage disease\Lysosomal storage disease (disorder)\Sphingolipidosis\Gaucher's disease\Gaucher disease type 2 is the acute neurological form of Gaucher disease. It is characterised by early-onset and severe neurological involvement of the brainstem, associated with an organomegaly and generally leading to death before the age of 2.
• \Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Gaucher disease type 2 is the acute neurological form of Gaucher disease. It is characterised by early-onset and severe neurological involvement of the brainstem, associated with an organomegaly and generally leading to death before the age of 2.
• \Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Gaucher disease type 2 is the acute neurological form of Gaucher disease. It is characterised by early-onset and severe neurological involvement of the brainstem, associated with an organomegaly and generally leading to death before the age of 2.
• \Fetal and/or neonatal disorder\Congenital disease\Inborn error of metabolism\...
• \Inherited metabolic disorder of nervous system\Gaucher disease type 2 is the acute neurological form of Gaucher disease. It is characterised by early-onset and severe neurological involvement of the brainstem, associated with an organomegaly and generally leading to death before the age of 2.
• \Storage disease\Lysosomal storage disease (disorder)\Sphingolipidosis\Gaucher's disease\Gaucher disease type 2 is the acute neurological form of Gaucher disease. It is characterised by early-onset and severe neurological involvement of the brainstem, associated with an organomegaly and generally leading to death before the age of 2.
• \Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Gaucher disease type 2 is the acute neurological form of Gaucher disease. It is characterised by early-onset and severe neurological involvement of the brainstem, associated with an organomegaly and generally leading to death before the age of 2.
• \Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Gaucher disease type 2 is the acute neurological form of Gaucher disease. It is characterised by early-onset and severe neurological involvement of the brainstem, associated with an organomegaly and generally leading to death before the age of 2.
• \Disorder of body system\Disorder of nervous system (disorder)\Acute nervous system disorder\Gaucher disease type 2 is the acute neurological form of Gaucher disease. It is characterised by early-onset and severe neurological involvement of the brainstem, associated with an organomegaly and generally leading to death before the age of 2.
• \Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Gaucher disease type 2 is the acute neurological form of Gaucher disease. It is characterised by early-onset and severe neurological involvement of the brainstem, associated with an organomegaly and generally leading to death before the age of 2.
• \Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Storage disease\Lysosomal storage disease (disorder)\Sphingolipidosis\Gaucher's disease\Gaucher disease type 2 is the acute neurological form of Gaucher disease. It is characterised by early-onset and severe neurological involvement of the brainstem, associated with an organomegaly and generally leading to death before the age of 2.
• \Metabolic disease\Acute metabolic disorder\Gaucher disease type 2 is the acute neurological form of Gaucher disease. It is characterised by early-onset and severe neurological involvement of the brainstem, associated with an organomegaly and generally leading to death before the age of 2.
• \Metabolic disease\Enzymopathy\Lysosomal storage disease (disorder)\Sphingolipidosis\Gaucher's disease\Gaucher disease type 2 is the acute neurological form of Gaucher disease. It is characterised by early-onset and severe neurological involvement of the brainstem, associated with an organomegaly and generally leading to death before the age of 2.
• \Metabolic disease\Disorder of lipoprotein AND/OR lipid metabolism\Disorder of lipid storage and metabolism\Sphingolipidosis\Gaucher's disease\Gaucher disease type 2 is the acute neurological form of Gaucher disease. It is characterised by early-onset and severe neurological involvement of the brainstem, associated with an organomegaly and generally leading to death before the age of 2.
• \Any disease of sudden onset AND/OR short duration\Acute nervous system disorder\Gaucher disease type 2 is the acute neurological form of Gaucher disease. It is characterised by early-onset and severe neurological involvement of the brainstem, associated with an organomegaly and generally leading to death before the age of 2.
• \Any disease of sudden onset AND/OR short duration\Acute metabolic disorder\Gaucher disease type 2 is the acute neurological form of Gaucher disease. It is characterised by early-onset and severe neurological involvement of the brainstem, associated with an organomegaly and generally leading to death before the age of 2.

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2021. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
5444530019	Gaucher disease type 2 is the acute neurological form of Gaucher disease. It is characterised by early-onset and severe neurological involvement of the brainstem, associated with an organomegaly and generally leading to death before the age of 2.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5444531015	Gaucher disease type 2 is the acute neurological form of Gaucher disease. It is characterized by early-onset and severe neurological involvement of the brainstem, associated with an organomegaly and generally leading to death before the age of 2.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
21084010	Acute neuronopathic Gaucher's disease	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
21085011	Infantile Gaucher's disease	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
21086012	Gaucher's disease, type II	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
21087015	Acute cerebral Gaucher's disease	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
21088013	Glucosylceramidase deficiency, acute type	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
21089017	Infantile cerebral Gaucher's disease	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
723714011	Acute neuronopathic Gaucher's disease (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
1220606014	Glucocerebrosidase deficiency type II	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
1220607017	Acute neuronopathic Gaucher disease	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
1220608010	Infantile Gaucher disease	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
1220609019	Cerebral acute Gaucher disease	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5444529012	Gaucher disease type 2	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
299181000077110	maladie de Gaucher neuropathique aiguë	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3393641001000119	Gaucher-Krankheit Typ 2	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

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Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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