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\Disorder of nervous system\Hereditary disorder of nervous system\Acute neuronopathic Gaucher's disease
\Disorder of body system\Disorder of nervous system\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\Glucosylceramide beta-glucosidase deficiency\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. Date: 31-Jul 2021. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

21084010 Acute neuronopathic Gaucher's disease en Synonym Active Only initial character case insensitive SNOMED CT core module

21085011 Infantile Gaucher's disease en Synonym Active Only initial character case insensitive SNOMED CT core module

21086012 Gaucher's disease, type II en Synonym Active Entire term case sensitive SNOMED CT core module

21087015 Acute cerebral Gaucher's disease en Synonym Active Only initial character case insensitive SNOMED CT core module

21088013 Glucosylceramidase deficiency, acute type en Synonym Active Entire term case insensitive SNOMED CT core module

21089017 Infantile cerebral Gaucher's disease en Synonym Active Only initial character case insensitive SNOMED CT core module

723714011 Acute neuronopathic Gaucher's disease (disorder) en Fully specified name Active Only initial character case insensitive SNOMED CT core module

1220606014 Glucocerebrosidase deficiency type II en Synonym Active Only initial character case insensitive SNOMED CT core module

1220607017 Acute neuronopathic Gaucher disease en Synonym Active Only initial character case insensitive SNOMED CT core module

1220608010 Infantile Gaucher disease en Synonym Active Only initial character case insensitive SNOMED CT core module

1220609019 Cerebral acute Gaucher disease en Synonym Active Only initial character case insensitive SNOMED CT core module

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	false	Inferred relationship	Existential restriction modifier
Acute neuronopathic Gaucher's disease	Is a	Glucosylceramide beta-glucosidase deficiency	true	Inferred relationship	Existential restriction modifier
Acute neuronopathic Gaucher's disease	Is a	Acute metabolic disorder	true	Inferred relationship	Existential restriction modifier
Acute neuronopathic Gaucher's disease	Is a	Acute nervous system disorder	true	Inferred relationship	Existential restriction modifier
Acute neuronopathic Gaucher's disease	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier	2
Acute neuronopathic Gaucher's disease	Finding site	Structure of nervous system	true	Inferred relationship	Existential restriction modifier	1
Acute neuronopathic Gaucher's disease	Course	Acute	false	Inferred relationship	Existential restriction modifier
Acute neuronopathic Gaucher's disease	Is a	Acute metabolic disorder	false	Inferred relationship	Existential restriction modifier
Acute neuronopathic Gaucher's disease	Clinical course	Sudden onset AND/OR short duration	false	Inferred relationship	Existential restriction modifier	3
Acute neuronopathic Gaucher's disease	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Existential restriction modifier
Acute neuronopathic Gaucher's disease	Is a	Hereditary disorder of nervous system	true	Inferred relationship	Existential restriction modifier
Acute neuronopathic Gaucher's disease	Clinical course	Sudden onset AND/OR short duration	true	Inferred relationship	Existential restriction modifier	2

Inbound Relationships

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Active

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Characteristic

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This concept is not in any reference sets