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

• SNOMED CT Concept\Clinical 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
• \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
• \Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Gaucher disease with ophthalmoplegia and cardiovascular calcification
• \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 of body system\Neurological disorder\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Subacute neuronopathic Gaucher's disease\Gaucher disease with ophthalmoplegia and cardiovascular calcification
• \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
• \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
• \Congenital disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Subacute neuronopathic Gaucher's disease\Gaucher disease with ophthalmoplegia and cardiovascular calcification

Status: current, Primitive. 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	Case sensitive	SNOMED CT core
4576247013	Gaucher disease with ophthalmoplegia and cardiovascular calcification	en	Synonym	Active	Case sensitive	SNOMED CT core
4576864015	Gaucher's disease type 3C	en	Synonym	Active	Case sensitive	SNOMED CT core
4578433019	Gaucher-like disease	en	Synonym	Active	Case sensitive	SNOMED CT core
4578434013	Cardiovascular Gaucher disease	en	Synonym	Active	Initial character case insensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Clinical finding foundation reference set

Problem/Diagnosis reference set

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