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782718007: Dystonia aphonia syndrome (disorder)


Status: current, Primitive. 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 Case insensitive SNOMED CT core
3755458017 Dystonia aphonia syndrome en Synonym Active Case insensitive 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 Case sensitive 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 Case sensitive SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Dystonia aphonia syndrome Is a Autosomal dominant hereditary disorder true Inferred relationship Some
Dystonia aphonia syndrome Is a Generalised dystonia true Inferred relationship Some
Dystonia aphonia syndrome Is a Hereditary disorder of nervous system true Inferred relationship Some
Dystonia aphonia syndrome Is a Aphonia true Inferred relationship Some
Dystonia aphonia syndrome Has interpretation Abnormal true Inferred relationship Some 2
Dystonia aphonia syndrome Interprets Ability to perform functions related to communication true Inferred relationship Some 2
Dystonia aphonia syndrome Finding site Extrapyramidal system structure true Inferred relationship Some 1
Dystonia aphonia syndrome Interprets Movement true Inferred relationship Some 3

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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