1156813002: ziekte van Gaucher met oftalmoplegie en cardiovasculaire calcificatie (aandoening)

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 foetus and/or newborn\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)

\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)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2021. Module: SNOMED CT core

Descriptions:

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

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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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
12898201000146114	ziekte van Gaucher met oftalmoplegie en cardiovasculaire calcificatie	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
12898211000146111	ziekte van Gaucher met oftalmoplegie en cardiovasculaire calcificatie (aandoening)	nl	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
12898221000146118	cerebrosidelipoïdose met oftalmoplegie en cardiovasculaire calcificatie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
12967361000146113	ziekte van Gaucher type 3c	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)