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12246008: Acute neuronopathic Gaucher's disease (disorder)

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
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 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
3393641001000119 Gaucher-Krankheit Typ 2 de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
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
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

0 descendants.

Expanded Value Set

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

This concept is not in any reference sets

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