782743001: ziekte van Huntington-achtig syndroom door read-expansies in 'chromosome 9 open reading frame 72' (aandoening)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Extrapyramidal disease\Chorea\Huntington disease-like syndrome\Huntington disease-like syndrome due to chromosome 9 open reading frame 72 expansions (disorder)
• \Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Disorder of basal ganglia (disorder)\Degenerative disorder of basal ganglia (disorder)\Huntington disease-like syndrome due to chromosome 9 open reading frame 72 expansions (disorder)
• \Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Disorder of basal ganglia (disorder)\Chorea\Huntington disease-like syndrome\Huntington disease-like syndrome due to chromosome 9 open reading frame 72 expansions (disorder)
• \Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Degenerative brain disorder\Cerebral degeneration (disorder)\Degenerative disorder of basal ganglia (disorder)\Huntington disease-like syndrome due to chromosome 9 open reading frame 72 expansions (disorder)
• \Head finding (finding)\Finding of head region\Disorder of basal ganglia (disorder)\Degenerative disorder of basal ganglia (disorder)\Huntington disease-like syndrome due to chromosome 9 open reading frame 72 expansions (disorder)
• \Head finding (finding)\Finding of head region\Disorder of basal ganglia (disorder)\Chorea\Huntington disease-like syndrome\Huntington disease-like syndrome due to chromosome 9 open reading frame 72 expansions (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Extrapyramidal disease\Chorea\Huntington disease-like syndrome\Huntington disease-like syndrome due to chromosome 9 open reading frame 72 expansions (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Disorder of basal ganglia (disorder)\Degenerative disorder of basal ganglia (disorder)\Huntington disease-like syndrome due to chromosome 9 open reading frame 72 expansions (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Disorder of basal ganglia (disorder)\Chorea\Huntington disease-like syndrome\Huntington disease-like syndrome due to chromosome 9 open reading frame 72 expansions (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Degenerative brain disorder\Cerebral degeneration (disorder)\Degenerative disorder of basal ganglia (disorder)\Huntington disease-like syndrome due to chromosome 9 open reading frame 72 expansions (disorder)
• \Finding of movement (finding)\Involuntary movement\Chorea\Huntington disease-like syndrome\Huntington disease-like syndrome due to chromosome 9 open reading frame 72 expansions (disorder)
• \Finding of movement (finding)\Movement disorder\Extrapyramidal disease\Chorea\Huntington disease-like syndrome\Huntington disease-like syndrome due to chromosome 9 open reading frame 72 expansions (disorder)
• \Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Extrapyramidal disease\Chorea\Huntington disease-like syndrome\Huntington disease-like syndrome due to chromosome 9 open reading frame 72 expansions (disorder)
• \Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Disorder of basal ganglia (disorder)\Degenerative disorder of basal ganglia (disorder)\Huntington disease-like syndrome due to chromosome 9 open reading frame 72 expansions (disorder)
• \Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Disorder of basal ganglia (disorder)\Chorea\Huntington disease-like syndrome\Huntington disease-like syndrome due to chromosome 9 open reading frame 72 expansions (disorder)
• \Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Degenerative brain disorder\Cerebral degeneration (disorder)\Degenerative disorder of basal ganglia (disorder)\Huntington disease-like syndrome due to chromosome 9 open reading frame 72 expansions (disorder)
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Extrapyramidal disease\Chorea\Huntington disease-like syndrome\Huntington disease-like syndrome due to chromosome 9 open reading frame 72 expansions (disorder)
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Disorder of basal ganglia (disorder)\Degenerative disorder of basal ganglia (disorder)\Huntington disease-like syndrome due to chromosome 9 open reading frame 72 expansions (disorder)
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Disorder of basal ganglia (disorder)\Chorea\Huntington disease-like syndrome\Huntington disease-like syndrome due to chromosome 9 open reading frame 72 expansions (disorder)
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Degenerative brain disorder\Cerebral degeneration (disorder)\Degenerative disorder of basal ganglia (disorder)\Huntington disease-like syndrome due to chromosome 9 open reading frame 72 expansions (disorder)
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Huntington disease-like syndrome due to chromosome 9 open reading frame 72 expansions (disorder)
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Degenerative disease of the central nervous system\Degenerative brain disorder\Cerebral degeneration (disorder)\Degenerative disorder of basal ganglia (disorder)\Huntington disease-like syndrome due to chromosome 9 open reading frame 72 expansions (disorder)
• \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 chromosome 9 open reading frame 72 expansions (disorder)
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Huntington disease-like syndrome due to chromosome 9 open reading frame 72 expansions (disorder)
• \Disease\Degenerative disorder\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Huntington disease-like syndrome due to chromosome 9 open reading frame 72 expansions (disorder)
• \Disease\Degenerative disorder\Degenerative disease of the central nervous system\Degenerative brain disorder\Cerebral degeneration (disorder)\Degenerative disorder of basal ganglia (disorder)\Huntington disease-like syndrome due to chromosome 9 open reading frame 72 expansions (disorder)
• \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 chromosome 9 open reading frame 72 expansions (disorder)
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Huntington disease-like syndrome due to chromosome 9 open reading frame 72 expansions (disorder)
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Extrapyramidal disease\Chorea\Huntington disease-like syndrome\Huntington disease-like syndrome due to chromosome 9 open reading frame 72 expansions (disorder)
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Disorder of basal ganglia (disorder)\Degenerative disorder of basal ganglia (disorder)\Huntington disease-like syndrome due to chromosome 9 open reading frame 72 expansions (disorder)
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Disorder of basal ganglia (disorder)\Chorea\Huntington disease-like syndrome\Huntington disease-like syndrome due to chromosome 9 open reading frame 72 expansions (disorder)
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Degenerative brain disorder\Cerebral degeneration (disorder)\Degenerative disorder of basal ganglia (disorder)\Huntington disease-like syndrome due to chromosome 9 open reading frame 72 expansions (disorder)
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Huntington disease-like syndrome due to chromosome 9 open reading frame 72 expansions (disorder)
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Degenerative disease of the central nervous system\Degenerative brain disorder\Cerebral degeneration (disorder)\Degenerative disorder of basal ganglia (disorder)\Huntington disease-like syndrome due to chromosome 9 open reading frame 72 expansions (disorder)
• \Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Extrapyramidal disease\Chorea\Huntington disease-like syndrome\Huntington disease-like syndrome due to chromosome 9 open reading frame 72 expansions (disorder)
• \Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Disorder of basal ganglia (disorder)\Degenerative disorder of basal ganglia (disorder)\Huntington disease-like syndrome due to chromosome 9 open reading frame 72 expansions (disorder)
• \Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Disorder of basal ganglia (disorder)\Chorea\Huntington disease-like syndrome\Huntington disease-like syndrome due to chromosome 9 open reading frame 72 expansions (disorder)
• \Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Degenerative brain disorder\Cerebral degeneration (disorder)\Degenerative disorder of basal ganglia (disorder)\Huntington disease-like syndrome due to chromosome 9 open reading frame 72 expansions (disorder)
• \Disease\Movement disorder\Extrapyramidal disease\Chorea\Huntington disease-like syndrome\Huntington disease-like syndrome due to chromosome 9 open reading frame 72 expansions (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). 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	Entire term case sensitive (core metadata concept)	SNOMED CT core
3755562013	Huntington disease-like syndrome due to C9ORF72 expansions	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3755563015	Huntington disease-like syndrome due to chromosome 9 open reading frame 72 expansions	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3755564014	C9ORF72-related Huntington disease phenocopy	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
9441351000146119	ziekte van Huntington-achtig syndroom door read-expansies in 'chromosome 9 open reading frame 72' (aandoening)	nl	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
9441361000146116	ziekte van Huntington-achtig syndroom door read-expansies in 'chromosome 9 open reading frame 72'	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
9441371000146110	ziekte van Huntington-achtig syndroom door read-expansies in C9orf72-gen	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
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	Entire term case sensitive (core metadata concept)	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	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

This concept is not in any reference sets

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