71253000: Tay-Sachs disease, variant AB (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\Tay-Sachs disease, variant AB
• \Storage disease\Disorder of lysosomal enzyme\Gangliosidosis\GM2 gangliosidosis\Tay-Sachs disease\Tay-Sachs disease, variant AB
• \Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Gangliosidosis\GM2 gangliosidosis\Tay-Sachs disease\Tay-Sachs disease, variant AB
• \Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Tay-Sachs disease\Tay-Sachs disease, variant AB
• \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\Tay-Sachs disease, variant AB
• \Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Gangliosidosis\GM2 gangliosidosis\Tay-Sachs disease\Tay-Sachs disease, variant AB
• \Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Gangliosidosis\GM2 gangliosidosis\Tay-Sachs disease\Tay-Sachs disease, variant AB
• \Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Storage disease\Disorder of lysosomal enzyme\Gangliosidosis\GM2 gangliosidosis\Tay-Sachs disease\Tay-Sachs disease, variant AB
• \Metabolic disease\Enzymopathy\Disorder of lysosomal enzyme\Gangliosidosis\GM2 gangliosidosis\Tay-Sachs disease\Tay-Sachs disease, variant AB
• \Metabolic disease\Disorder of lipoprotein AND/OR lipid metabolism\Disorder of lipid storage and metabolism\Gangliosidosis\GM2 gangliosidosis\Tay-Sachs disease\Tay-Sachs disease, variant AB
• \Congenital disease\Inborn error of metabolism\...
• \Inherited metabolic disorder of nervous system\Gangliosidosis\GM2 gangliosidosis\Tay-Sachs disease\Tay-Sachs disease, variant AB
• \Storage disease\Disorder of lysosomal enzyme\Gangliosidosis\GM2 gangliosidosis\Tay-Sachs disease\Tay-Sachs disease, variant AB

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
118325010	Tay-Sachs disease, variant AB	en	Synonym	Active	Case sensitive	SNOMED CT core
118326011	Hexosaminidase activator deficiency	en	Synonym	Active	Case insensitive	SNOMED CT core
118327019	GM>2< gangliosidosis, type AB	en	Synonym	Active	Case sensitive	SNOMED CT core
1233370019	GM2 activator deficiency	en	Synonym	Active	Case sensitive	SNOMED CT core
1233371015	AB variant	en	Synonym	Active	Case sensitive	SNOMED CT core
811399010	Tay-Sachs disease, variant AB (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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