782743001: Huntington disease-like syndrome due to chromosome 9 open reading frame 72 expansions (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Finding of movement\Movement disorder\Extrapyramidal disease\Huntington disease-like syndrome\Huntington disease-like syndrome due to C9ORF72 expansions
• \Central nervous system finding\Finding of brain\Encephalopathy\Extrapyramidal disease\Huntington disease-like syndrome\Huntington disease-like syndrome due to C9ORF72 expansions
• \Central nervous system finding\Finding of brain\Encephalopathy\Disorder of basal ganglia\Huntington disease-like syndrome\Huntington disease-like syndrome due to C9ORF72 expansions
• \Central nervous system finding\Finding of brain\Encephalopathy\Degenerative brain disorder\Cerebral degeneration\Huntington disease-like syndrome due to C9ORF72 expansions
• \Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Extrapyramidal disease\Huntington disease-like syndrome\Huntington disease-like syndrome due to C9ORF72 expansions
• \Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Disorder of basal ganglia\Huntington disease-like syndrome\Huntington disease-like syndrome due to C9ORF72 expansions
• \Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Degenerative brain disorder\Cerebral degeneration\Huntington disease-like syndrome due to C9ORF72 expansions
• \Central nervous system finding\Disorder of the central nervous system\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Huntington disease-like syndrome due to C9ORF72 expansions
• \Central nervous system finding\Disorder of the central nervous system\Degenerative disease of the central nervous system\Degenerative brain disorder\Cerebral degeneration\Huntington disease-like syndrome due to C9ORF72 expansions
• \Finding of head and neck region\Head finding\...
• \Finding of brain\Encephalopathy\...
• \Extrapyramidal disease\Huntington disease-like syndrome\Huntington disease-like syndrome due to C9ORF72 expansions
• \Disorder of basal ganglia\Huntington disease-like syndrome\Huntington disease-like syndrome due to C9ORF72 expansions
• \Degenerative brain disorder\Cerebral degeneration\Huntington disease-like syndrome due to C9ORF72 expansions
• \Finding of head region\Disorder of basal ganglia\Huntington disease-like syndrome\Huntington disease-like syndrome due to C9ORF72 expansions
• \Disorder of head\Encephalopathy\...
• \Extrapyramidal disease\Huntington disease-like syndrome\Huntington disease-like syndrome due to C9ORF72 expansions
• \Disorder of basal ganglia\Huntington disease-like syndrome\Huntington disease-like syndrome due to C9ORF72 expansions
• \Degenerative brain disorder\Cerebral degeneration\Huntington disease-like syndrome due to C9ORF72 expansions
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Huntington disease-like syndrome due to C9ORF72 expansions
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Huntington disease-like syndrome due to C9ORF72 expansions
• \Disease\Degenerative disorder\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Huntington disease-like syndrome due to C9ORF72 expansions
• \Disease\Degenerative disorder\Degenerative disease of the central nervous system\Degenerative brain disorder\Cerebral degeneration\Huntington disease-like syndrome due to C9ORF72 expansions
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Huntington disease-like syndrome due to C9ORF72 expansions
• \Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Huntington disease-like syndrome due to C9ORF72 expansions
• \Disease\Disorder of body system\Neurological disorder\System disorder of the nervous system\Disorder presenting primarily with chorea\Huntington disease-like syndrome\Huntington disease-like syndrome due to C9ORF72 expansions
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Extrapyramidal disease\Huntington disease-like syndrome\Huntington disease-like syndrome due to C9ORF72 expansions
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Disorder of basal ganglia\Huntington disease-like syndrome\Huntington disease-like syndrome due to C9ORF72 expansions
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Degenerative brain disorder\Cerebral degeneration\Huntington disease-like syndrome due to C9ORF72 expansions
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Huntington disease-like syndrome due to C9ORF72 expansions
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Degenerative disease of the central nervous system\Degenerative brain disorder\Cerebral degeneration\Huntington disease-like syndrome due to C9ORF72 expansions
• \Disease\Disorder of head\Encephalopathy\Extrapyramidal disease\Huntington disease-like syndrome\Huntington disease-like syndrome due to C9ORF72 expansions
• \Disease\Disorder of head\Encephalopathy\Disorder of basal ganglia\Huntington disease-like syndrome\Huntington disease-like syndrome due to C9ORF72 expansions
• \Disease\Disorder of head\Encephalopathy\Degenerative brain disorder\Cerebral degeneration\Huntington disease-like syndrome due to C9ORF72 expansions
• \Disease\Movement disorder\Extrapyramidal disease\Huntington disease-like syndrome\Huntington disease-like syndrome due to C9ORF72 expansions

Status: current, Primitive. Date: 31-Jul 2019. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3755561018	Huntington disease-like syndrome due to chromosome 9 open reading frame 72 expansions (disorder)	en	Fully specified name	Active	Case sensitive	SNOMED CT core
3755562013	Huntington disease-like syndrome due to C9ORF72 expansions	en	Synonym	Active	Case sensitive	SNOMED CT core
3755563015	Huntington disease-like syndrome due to chromosome 9 open reading frame 72 expansions	en	Synonym	Active	Case sensitive	SNOMED CT core
3755564014	C9ORF72-related Huntington disease phenocopy	en	Synonym	Active	Case sensitive	SNOMED CT core
3755565010	A rare genetic neurodegenerative disease characterised by movement disorders, including dystonia, chorea, myoclonus, tremor and rigidity. Associated features are also cognitive and memory impairment, early psychiatric disturbances and behavioural problems.	en	Definition	Active	Case sensitive	SNOMED CT core
3755566011	A rare genetic neurodegenerative disease characterized by movement disorders, including dystonia, chorea, myoclonus, tremor and rigidity. Associated features are also cognitive and memory impairment, early psychiatric disturbances and behavioral problems.	en	Definition	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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