23849003: Sandhoff 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\Sandhoff disease
• \Storage disease\Disorder of lysosomal enzyme\Gangliosidosis\GM2 gangliosidosis\Sandhoff disease
• \Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Gangliosidosis\GM2 gangliosidosis\Sandhoff disease
• \Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Gangliosidosis\GM2 gangliosidosis\Sandhoff disease
• \Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Gangliosidosis\GM2 gangliosidosis\Sandhoff disease
• \Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Gangliosidosis\GM2 gangliosidosis\Sandhoff disease
• \Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Storage disease\Disorder of lysosomal enzyme\Gangliosidosis\GM2 gangliosidosis\Sandhoff disease
• \Metabolic disease\Enzymopathy\Disorder of lysosomal enzyme\Gangliosidosis\GM2 gangliosidosis\Sandhoff disease
• \Metabolic disease\Disorder of lipoprotein AND/OR lipid metabolism\Disorder of lipid storage and metabolism\Gangliosidosis\GM2 gangliosidosis\Sandhoff disease
• \Congenital disease\Inborn error of metabolism\...
• \Inherited metabolic disorder of nervous system\Gangliosidosis\GM2 gangliosidosis\Sandhoff disease
• \Storage disease\Disorder of lysosomal enzyme\Gangliosidosis\GM2 gangliosidosis\Sandhoff disease

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
40055016	Sandhoff disease	en	Synonym	Active	Case sensitive	SNOMED CT core
40057012	GM>2< gangliosidosis, type 2	en	Synonym	Active	Case sensitive	SNOMED CT core
40058019	Hexosaminidase A AND B deficiency	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
481740011	Total hexosaminidase deficiency	en	Synonym	Active	Case insensitive	SNOMED CT core
481741010	O variant	en	Synonym	Active	Case sensitive	SNOMED CT core
753417017	Sandhoff 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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