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

SNOMED CT Concept\Clinical finding (finding)\...

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

\Finding of head and neck region\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)

\Disorder of basal ganglia (disorder)\Chorea\Huntington disease-like syndrome\Huntington disease-like syndrome due to chromosome 9 open reading frame 72 expansions (disorder)

\Degenerative brain disorder\Cerebral degeneration (disorder)\Huntington disease-like syndrome due to chromosome 9 open reading frame 72 expansions (disorder)

\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)

\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)

\Disorder of basal ganglia (disorder)\Chorea\Huntington disease-like syndrome\Huntington disease-like syndrome due to chromosome 9 open reading frame 72 expansions (disorder)

\Degenerative brain disorder\Cerebral degeneration (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)\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)\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)\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)\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)\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)\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

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

12776381000172114 syndrome de type maladie de Huntington dû à des expansions de C9ORF72 (chromosome 9 open reading frame 72) fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

4190821000172112 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) Belgian module (core metadata concept)

4190831000172110 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) Belgian module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Huntington disease-like syndrome due to chromosome 9 open reading frame 72 expansions (disorder)	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Huntington disease-like syndrome due to chromosome 9 open reading frame 72 expansions (disorder)	Is a	Huntington disease-like syndrome	true	Inferred relationship	Some
Huntington disease-like syndrome due to chromosome 9 open reading frame 72 expansions (disorder)	Is a	Cerebral degeneration (disorder)	true	Inferred relationship	Some
Huntington disease-like syndrome due to chromosome 9 open reading frame 72 expansions (disorder)	Finding site	Basal ganglion structure (body structure)	true	Inferred relationship	Some	1
Huntington disease-like syndrome due to chromosome 9 open reading frame 72 expansions (disorder)	Is a	Hereditary disorder of nervous system	false	Inferred relationship	Some
Huntington disease-like syndrome due to chromosome 9 open reading frame 72 expansions (disorder)	Associated morphology	Degeneration	false	Inferred relationship	Some	1
Huntington disease-like syndrome due to chromosome 9 open reading frame 72 expansions (disorder)	Is a	Hereditary degenerative disease of central nervous system	true	Inferred relationship	Some
Huntington disease-like syndrome due to chromosome 9 open reading frame 72 expansions (disorder)	Associated morphology	Degenerative abnormality	true	Inferred relationship	Some	1
Huntington disease-like syndrome due to chromosome 9 open reading frame 72 expansions (disorder)	Interprets	Movement	false	Inferred relationship	Some	2
Huntington disease-like syndrome due to chromosome 9 open reading frame 72 expansions (disorder)	Has interpretation	Abnormal	true	Inferred relationship	Some	2
Huntington disease-like syndrome due to chromosome 9 open reading frame 72 expansions (disorder)	Interprets	Movement	true	Inferred relationship	Some	3
Huntington disease-like syndrome due to chromosome 9 open reading frame 72 expansions (disorder)	Interprets	Movement observable	true	Inferred relationship	Some	2

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

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
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
12776381000172114	syndrome de type maladie de Huntington dû à des expansions de C9ORF72 (chromosome 9 open reading frame 72)	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
4190821000172112	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)	Belgian module (core metadata concept)
4190831000172110	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)	Belgian module (core metadata concept)