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 |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Dystonia aphonia syndrome (disorder) | Is a | Autosomal dominant hereditary disorder | true | Inferred relationship | Some | ||
| Dystonia aphonia syndrome (disorder) | Is a | Generalized dystonia (disorder) | true | Inferred relationship | Some | ||
| Dystonia aphonia syndrome (disorder) | Is a | Hereditary disorder of nervous system | true | Inferred relationship | Some | ||
| Dystonia aphonia syndrome (disorder) | Is a | Aphonia (disorder) | true | Inferred relationship | Some | ||
| Dystonia aphonia syndrome (disorder) | Has interpretation | Abnormal | true | Inferred relationship | Some | 2 | |
| Dystonia aphonia syndrome (disorder) | Interprets | Ability to perform functions related to communication | true | Inferred relationship | Some | 2 | |
| Dystonia aphonia syndrome (disorder) | Finding site | Extrapyramidal system structure | true | Inferred relationship | Some | 1 | |
| Dystonia aphonia syndrome (disorder) | Interprets | Movement | true | Inferred relationship | Some | 3 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR