111385000: Tay-Sachs disease (disorder)

• SNOMED CT Concept\Clinical finding\Disease\...
• \Genetic disease\Hereditary disease\...
• \Hereditary metabolic disease\Inborn error of metabolism\...
• \Inherited metabolic disorder of nervous system\Gangliosidosis\GM2 gangliosidosis\Tay-Sachs disease
• \Storage disease\Disorder of lysosomal enzyme\Gangliosidosis\GM2 gangliosidosis\Tay-Sachs disease
• \Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Gangliosidosis\GM2 gangliosidosis\Tay-Sachs disease
• \Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Tay-Sachs disease
• \Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Gangliosidosis\GM2 gangliosidosis\Tay-Sachs disease
• \Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Gangliosidosis\GM2 gangliosidosis\Tay-Sachs disease
• \Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Gangliosidosis\GM2 gangliosidosis\Tay-Sachs disease
• \Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Storage disease\Disorder of lysosomal enzyme\Gangliosidosis\GM2 gangliosidosis\Tay-Sachs disease
• \Metabolic disease\Enzymopathy\Disorder of lysosomal enzyme\Gangliosidosis\GM2 gangliosidosis\Tay-Sachs disease
• \Metabolic disease\Disorder of lipoprotein AND/OR lipid metabolism\Disorder of lipid storage and metabolism\Gangliosidosis\GM2 gangliosidosis\Tay-Sachs disease
• \Congenital disease\Inborn error of metabolism\...
• \Inherited metabolic disorder of nervous system\Gangliosidosis\GM2 gangliosidosis\Tay-Sachs disease
• \Storage disease\Disorder of lysosomal enzyme\Gangliosidosis\GM2 gangliosidosis\Tay-Sachs disease

Status: current, Primitive. Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
178623012	Tay-Sachs disease	en	Synonym	Active	Case sensitive	SNOMED CT core
187763014	Severe hexosaminidase A deficiency	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
187764015	TSD	en	Synonym	Active	Case sensitive	SNOMED CT core
187765019	Amaurotic familial idiocy	en	Synonym	Active	Case insensitive	SNOMED CT core
187766018	Infantile amaurotic familial disease	en	Synonym	Active	Case insensitive	SNOMED CT core
189395019	GM>2< gangliosidosis, type 1	en	Synonym	Active	Case sensitive	SNOMED CT core
361785018	Hexosaminidase A deficiency	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
630949018	Tay-Sachs disease (disorder)	en	Fully specified name	Active	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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