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782718007: Dystonia aphonia syndrome (disorder)

  • SNOMED CT Concept\Clinical finding (finding)\...
    • \Head finding (finding)\Finding of brain\Disorder of brain\Extrapyramidal disease\Dystonia\Generalized dystonia (disorder)\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.
    • \Head finding (finding)\Disorder of head (disorder)\Disorder of brain\Extrapyramidal disease\Dystonia\Generalized dystonia (disorder)\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.
    • \Finding of movement\Movement disorder\Extrapyramidal disease\Dystonia\Generalized dystonia (disorder)\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.
    • \Functional finding\Communication disorder\Speech and language disorder\Aphonia (disorder)\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.
    • \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\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.
    • \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\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.
    • \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\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.
    • \Disease\Disorder of body system\Disease of nervous system (disorder)\Hereditary disorder of nervous system (disorder)\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.
    • \Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain\Extrapyramidal disease\Dystonia\Generalized dystonia (disorder)\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.
    • \Disease\Communication disorder\Speech and language disorder\Aphonia (disorder)\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.
    • \Disease\Disorder of head (disorder)\Disorder of brain\Extrapyramidal disease\Dystonia\Generalized dystonia (disorder)\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.
    • \Disease\Movement disorder\Extrapyramidal disease\Dystonia\Generalized dystonia (disorder)\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.

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 Active 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 Active Entire term case sensitive (core metadata concept) SNOMED CT core
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 Active 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 Active Entire term case sensitive (core metadata concept) SNOMED CT core
3451131001000117 Dystonia-Aphonie-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6086651000241114 syndrome de dystonie et aphonie fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6086651000241114 syndrome de dystonie et aphonie fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3451131001000117 Dystonia-Aphonie-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
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. Is a Autosomal dominant hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
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. Is a Generalized dystonia (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
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. Is a Hereditary disorder of nervous system (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
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. Is a Aphonia (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
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. Has interpretation Abnormal true Inferred relationship Existential restriction modifier (core metadata concept) 2
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. Interprets Ability to perform functions related to communication true Inferred relationship Existential restriction modifier (core metadata concept) 2
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. Finding site Extrapyramidal system structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
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. Interprets Movement true Inferred relationship Existential restriction modifier (core metadata concept) 3
Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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