5963005: Subacute 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\Subacute neuronopathic Gaucher's disease

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

\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Subacute neuronopathic Gaucher's disease

\Disorder of foetus and/or newborn\Congenital disease (disorder)\Inborn error of metabolism\...

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

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

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

\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Subacute neuronopathic Gaucher's disease
\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Storage disease\Lysosomal storage disease (disorder)\Sphingolipidosis\Gaucher's disease\Subacute neuronopathic Gaucher's disease
\Metabolic disease\Enzymopathy\Lysosomal storage disease (disorder)\Sphingolipidosis\Gaucher's disease\Subacute neuronopathic Gaucher's disease
\Metabolic disease\Disorder of lipoprotein AND/OR lipid metabolism\Disorder of lipid storage and metabolism\Sphingolipidosis\Gaucher's disease\Subacute neuronopathic Gaucher's disease

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

10915014 Subacute neuronopathic Gaucher's disease en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
10916010 Juvenile Gaucher's disease en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
10917018 Glucosylceramidase deficiency, subacute type en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
10918011 Gaucher's disease, type III en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
798494018 Subacute neuronopathic Gaucher's disease (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
1231980015 Norrbottnian Gaucher disease en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
1231981016 Subacute neuronopathic Gaucher disease en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
1231982011 Juvenile Gaucher disease en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
1231983018 Glucocerebrosidase deficiency type III en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Subacute neuronopathic Gaucher's disease	Is a	Gaucher's disease	true	Inferred relationship	Some
Subacute neuronopathic Gaucher's disease	Is a	Inherited metabolic disorder of nervous system	true	Inferred relationship	Some
Subacute neuronopathic Gaucher's disease	Occurrence	Congenital	true	Inferred relationship	Some	1
Subacute neuronopathic Gaucher's disease	Finding site	Structure of nervous system (body structure)	true	Inferred relationship	Some	2

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Gaucher disease with ophthalmoplegia and cardiovascular calcification (disorder)	Is a	True	Subacute neuronopathic Gaucher's disease	Inferred relationship	Some

This concept is not in any reference sets