1156813002: Gaucher disease with ophthalmoplegia and cardiovascular calcification (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\Gaucher disease with ophthalmoplegia and cardiovascular calcification (disorder)

\Storage disease\Lysosomal storage disease (disorder)\Sphingolipidosis\Gaucher's disease\Subacute neuronopathic Gaucher's disease\Gaucher disease with ophthalmoplegia and cardiovascular calcification (disorder)

\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Subacute neuronopathic Gaucher's disease\Gaucher disease with ophthalmoplegia and cardiovascular calcification (disorder)

\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Gaucher disease with ophthalmoplegia and cardiovascular calcification (disorder)

\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Subacute neuronopathic Gaucher's disease\Gaucher disease with ophthalmoplegia and cardiovascular calcification (disorder)
\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\Gaucher disease with ophthalmoplegia and cardiovascular calcification (disorder)

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

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

\Inherited metabolic disorder of nervous system\Subacute neuronopathic Gaucher's disease\Gaucher disease with ophthalmoplegia and cardiovascular calcification (disorder)

\Storage disease\Lysosomal storage disease (disorder)\Sphingolipidosis\Gaucher's disease\Subacute neuronopathic Gaucher's disease\Gaucher disease with ophthalmoplegia and cardiovascular calcification (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

4576246016 Gaucher disease with ophthalmoplegia and cardiovascular calcification (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core

4576247013 Gaucher disease with ophthalmoplegia and cardiovascular calcification en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

4576864015 Gaucher's disease type 3C en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

4578433019 Gaucher-like disease en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

4578434013 Cardiovascular Gaucher disease en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

5079331000052114 Gauchers sjukdom med oftalmoplegi och kardiovaskulär förkalkning sv Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Gaucher disease with ophthalmoplegia and cardiovascular calcification (disorder)	Finding site	Structure of nervous system (body structure)	true	Inferred relationship	Some	2
Gaucher disease with ophthalmoplegia and cardiovascular calcification (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Gaucher disease with ophthalmoplegia and cardiovascular calcification (disorder)	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Gaucher disease with ophthalmoplegia and cardiovascular calcification (disorder)	Is a	Subacute neuronopathic Gaucher's disease	true	Inferred relationship	Some

Inbound Relationships

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This concept is not in any reference sets