782718007: Dystonia aphonia syndrome (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Extrapyramidal disease\Dystonia\Generalized dystonia (disorder)\Dystonia aphonia syndrome (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Extrapyramidal disease\Dystonia\Generalized dystonia (disorder)\Dystonia aphonia syndrome (disorder)
• \Finding of movement (finding)\Movement disorder\Extrapyramidal disease\Dystonia\Generalized dystonia (disorder)\Dystonia aphonia syndrome (disorder)
• \Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Extrapyramidal disease\Dystonia\Generalized dystonia (disorder)\Dystonia aphonia syndrome (disorder)
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Extrapyramidal disease\Dystonia\Generalized dystonia (disorder)\Dystonia aphonia syndrome (disorder)
• \Functional finding\Communication disorder\Speech and language disorder\Aphonia (disorder)\Dystonia aphonia syndrome (disorder)
• \Speech finding\Speech and language finding\Communication, speech and language finding\Communication disorder\Speech and language disorder\Aphonia (disorder)\Dystonia aphonia syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Dystonia aphonia syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Dystonia aphonia syndrome (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Dystonia aphonia syndrome (disorder)
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Dystonia aphonia syndrome (disorder)
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Extrapyramidal disease\Dystonia\Generalized dystonia (disorder)\Dystonia aphonia syndrome (disorder)
• \Disease\Communication disorder\Speech and language disorder\Aphonia (disorder)\Dystonia aphonia syndrome (disorder)
• \Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Extrapyramidal disease\Dystonia\Generalized dystonia (disorder)\Dystonia aphonia syndrome (disorder)
• \Disease\Movement disorder\Extrapyramidal disease\Dystonia\Generalized dystonia (disorder)\Dystonia aphonia syndrome (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
3755457010	Dystonia aphonia syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3755458017	Dystonia aphonia syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3755459013	A rare genetic persistent combined dystonia disorder characterized by slowly progressive severe caudo-rostrally spreading generalized dystonia with prominent facial and oro-mandibular involvement leading to severe anarthria and/or aphonia, swallowing difficulties and gait disturbances. Additional manifestations include slowed horizontal saccades, subclinical epilepsy, photic myoclonus, oral hypertrophic changes (for example gingival or lingual hyperplasia) as well as delayed milestones and cognitive impairment.	en	Definition	Inactive	Entire term case sensitive (core metadata concept)	SNOMED CT core
3755460015	A rare genetic persistent combined dystonia disorder characterised by slowly progressive severe caudo-rostrally spreading generalised dystonia with prominent facial and oro-mandibular involvement leading to severe anarthria and/or aphonia, swallowing difficulties and gait disturbances. Additional manifestations include slowed horizontal saccades, subclinical epilepsy, photic myoclonus, oral hypertrophic changes (for example gingival or lingual hyperplasia) as well as delayed milestones and cognitive impairment.	en	Definition	Inactive	Entire term case sensitive (core metadata concept)	SNOMED CT core
5405653016	Dystonia-aphonia syndrome is a rare, genetic, persistent combined dystonia disorder characterized by slowly progressive, severe, caudo-rostrally spreading generalized dystonia with prominent facial and oro-mandibular involvement leading to severe anarthria and/or aphonia, swallowing difficulties, and gait disturbances. Additional manifestations include slowed horizontal saccades, subclinical epilepsy, photic myoclonus, oral hypertrophic changes (e.g. gingival or lingual hyperplasia), as well as delayed milestones and cognitive impairment.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5405654010	Dystonia-aphonia syndrome is a rare, genetic, persistent combined dystonia disorder characterised by slowly progressive, severe, caudo-rostrally spreading generalised dystonia with prominent facial and oro-mandibular involvement leading to severe anarthria and/or aphonia, swallowing difficulties, and gait disturbances. Additional manifestations include slowed horizontal saccades, subclinical epilepsy, photic myoclonus, oral hypertrophic changes (e.g. gingival or lingual hyperplasia), as well as delayed milestones and cognitive impairment.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

Reference Sets

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

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