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\Acute neuronopathic Gaucher's disease

\Storage disease\Lysosomal storage disease (disorder)\Sphingolipidosis\Gaucher's disease\Acute neuronopathic Gaucher's disease

\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic 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\Inherited metabolic disorder of nervous system\Acute neuronopathic Gaucher's disease
\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Acute neuronopathic Gaucher's disease
\Disorder of body system\Disorder of nervous system (disorder)\Acute nervous system disorder\Acute neuronopathic Gaucher's disease

\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Acute neuronopathic Gaucher's disease
\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Storage disease\Lysosomal storage disease (disorder)\Sphingolipidosis\Gaucher's disease\Acute neuronopathic Gaucher's disease
\Metabolic disease\Acute metabolic disorder\Acute neuronopathic Gaucher's disease
\Metabolic disease\Enzymopathy\Lysosomal storage disease (disorder)\Sphingolipidosis\Gaucher's disease\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

\Congenital disease (disorder)\Inborn error of metabolism\...

\Inherited metabolic disorder of nervous system\Acute neuronopathic Gaucher's disease

\Storage disease\Lysosomal storage disease (disorder)\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, 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

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
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 Entire term case sensitive (core metadata concept) SNOMED CT core
11256111000172111 maladie de Gaucher neuronopathique aigüe fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)
11256121000172118 glucosylcéramidose neuronopathique aigüe fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)
4695511000172114 ziekte van Gaucher type 2 nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Acute neuronopathic Gaucher's disease	Is a	Inherited metabolic disorder of nervous system	true	Inferred relationship	Some
Acute neuronopathic Gaucher's disease	Is a	Gaucher's disease	true	Inferred relationship	Some
Acute neuronopathic Gaucher's disease	Is a	Acute metabolic disorder	true	Inferred relationship	Some
Acute neuronopathic Gaucher's disease	Is a	Acute nervous system disorder	true	Inferred relationship	Some
Acute neuronopathic Gaucher's disease	Occurrence	Congenital	false	Inferred relationship	Some	2
Acute neuronopathic Gaucher's disease	Finding site	Structure of nervous system (body structure)	true	Inferred relationship	Some	1
Acute neuronopathic Gaucher's disease	Course	Acute	false	Inferred relationship	Some
Acute neuronopathic Gaucher's disease	Is a	Acute metabolic disorder	false	Inferred relationship	Some
Acute neuronopathic Gaucher's disease	Clinical course	Sudden onset AND/OR short duration (qualifier value)	false	Inferred relationship	Some	3
Acute neuronopathic Gaucher's disease	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Acute neuronopathic Gaucher's disease	Is a	Hereditary disorder of nervous system	false	Inferred relationship	Some
Acute neuronopathic Gaucher's disease	Clinical course	Sudden onset AND/OR short duration (qualifier value)	true	Inferred relationship	Some	2
Acute neuronopathic Gaucher's disease	Occurrence	Congenital	true	Inferred relationship	Some	3

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
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
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	Entire term case sensitive (core metadata concept)	SNOMED CT core
11256111000172111	maladie de Gaucher neuronopathique aigüe	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
11256121000172118	glucosylcéramidose neuronopathique aigüe	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
4695511000172114	ziekte van Gaucher type 2	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)