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 |
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