725392005: Autosomal dominant striatal neurodegeneration (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Head finding (finding)\Finding of brain\Disorder of brain\Extrapyramidal disease\Parkinsonism\Autosomal dominant striatal neurodegeneration (disorder)
• \Head finding (finding)\Finding of brain\Disorder of brain\Disorder of basal ganglia (disorder)\Parkinsonism\Autosomal dominant striatal neurodegeneration (disorder)
• \Head finding (finding)\Finding of brain\Disorder of brain\Degenerative brain disorder\Cerebral degeneration (disorder)\Autosomal dominant striatal neurodegeneration (disorder)
• \Head finding (finding)\Finding of head region\Disorder of basal ganglia (disorder)\Parkinsonism\Autosomal dominant striatal neurodegeneration (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Disorder of brain\Extrapyramidal disease\Parkinsonism\Autosomal dominant striatal neurodegeneration (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Disorder of brain\Disorder of basal ganglia (disorder)\Parkinsonism\Autosomal dominant striatal neurodegeneration (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Disorder of brain\Degenerative brain disorder\Cerebral degeneration (disorder)\Autosomal dominant striatal neurodegeneration (disorder)
• \Finding of movement\Bradykinesia (finding)\Parkinsonism\Autosomal dominant striatal neurodegeneration (disorder)
• \Finding of movement\Movement disorder\Extrapyramidal disease\Parkinsonism\Autosomal dominant striatal neurodegeneration (disorder)
• \Central nervous system finding\Finding of brain\Disorder of brain\Extrapyramidal disease\Parkinsonism\Autosomal dominant striatal neurodegeneration (disorder)
• \Central nervous system finding\Finding of brain\Disorder of brain\Disorder of basal ganglia (disorder)\Parkinsonism\Autosomal dominant striatal neurodegeneration (disorder)
• \Central nervous system finding\Finding of brain\Disorder of brain\Degenerative brain disorder\Cerebral degeneration (disorder)\Autosomal dominant striatal neurodegeneration (disorder)
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain\Extrapyramidal disease\Parkinsonism\Autosomal dominant striatal neurodegeneration (disorder)
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain\Disorder of basal ganglia (disorder)\Parkinsonism\Autosomal dominant striatal neurodegeneration (disorder)
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain\Degenerative brain disorder\Cerebral degeneration (disorder)\Autosomal dominant striatal neurodegeneration (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\Autosomal dominant striatal neurodegeneration (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)\Autosomal dominant striatal neurodegeneration (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Hereditary degenerative disease of central nervous system\Autosomal dominant striatal neurodegeneration (disorder)
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Autosomal dominant striatal neurodegeneration (disorder)
• \Disease\Degenerative disorder\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Autosomal dominant striatal neurodegeneration (disorder)
• \Disease\Degenerative disorder\Degenerative disease of the central nervous system\Degenerative brain disorder\Cerebral degeneration (disorder)\Autosomal dominant striatal neurodegeneration (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Hereditary degenerative disease of central nervous system\Autosomal dominant striatal neurodegeneration (disorder)
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Hereditary disorder of nervous system (disorder)\Hereditary degenerative disease of central nervous system\Autosomal dominant striatal neurodegeneration (disorder)
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain\Extrapyramidal disease\Parkinsonism\Autosomal dominant striatal neurodegeneration (disorder)
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain\Disorder of basal ganglia (disorder)\Parkinsonism\Autosomal dominant striatal neurodegeneration (disorder)
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain\Degenerative brain disorder\Cerebral degeneration (disorder)\Autosomal dominant striatal neurodegeneration (disorder)
• \Disease\Disorder of body system\Disease 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\Autosomal dominant striatal neurodegeneration (disorder)
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Degenerative disease of the central nervous system\Degenerative brain disorder\Cerebral degeneration (disorder)\Autosomal dominant striatal neurodegeneration (disorder)
• \Disease\Disorder of head (disorder)\Disorder of brain\Extrapyramidal disease\Parkinsonism\Autosomal dominant striatal neurodegeneration (disorder)
• \Disease\Disorder of head (disorder)\Disorder of brain\Disorder of basal ganglia (disorder)\Parkinsonism\Autosomal dominant striatal neurodegeneration (disorder)
• \Disease\Disorder of head (disorder)\Disorder of brain\Degenerative brain disorder\Cerebral degeneration (disorder)\Autosomal dominant striatal neurodegeneration (disorder)
• \Disease\Movement disorder\Extrapyramidal disease\Parkinsonism\Autosomal dominant striatal neurodegeneration (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3441978014	Autosomal dominant striatal neurodegeneration (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3441979018	Autosomal dominant striatal neurodegeneration	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3441980015	ADSD - autosomal dominant striatal neurodegeneration	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5403452015	An adult-onset movement disorder characterized by bradykinesia, dysarthria and muscle rigidity.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5403453013	An adult-onset movement disorder characterised by bradykinesia, dysarthria and muscle rigidity.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3441978014	Autosomal dominant striatal neurodegeneration (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3441979018	Autosomal dominant striatal neurodegeneration	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3441980015	ADSD - autosomal dominant striatal neurodegeneration	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3441981016	An adult-onset movement disorder with characteristics of bradykinesia, dysarthria and muscle rigidity. To date the disease has been observed in seven individuals in one family. Onset of symptoms is in the fourth to fifth decade of life with mild progressive dysarthria and hypokinesia. Dysdiadochokinesia is also present and muscle tone is slightly increased. Dysfunction and changes of the striatal part of the basal ganglia are visible on magnetic resonance imaging. Caused by mutation in the PDE8B gene (5q13.3-q14.1) and transmitted in an autosomal dominant manner with complete penetrance in the investigated family.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5403452015	An adult-onset movement disorder characterized by bradykinesia, dysarthria and muscle rigidity.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5403453013	An adult-onset movement disorder characterised by bradykinesia, dysarthria and muscle rigidity.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3393911001000114	Neurodegeneration, striatale, autosomal-dominante	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
886521000172114	ADSD - autosomal dominant striatal neurodegeneration	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
887481000172111	neurodégénérescence striatale autosomique dominante	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
886521000172114	ADSD - autosomal dominant striatal neurodegeneration	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
887481000172111	neurodégénérescence striatale autosomique dominante	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3393911001000114	Neurodegeneration, striatale, autosomal-dominante	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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