Status: current, Primitive. Date: 31-Jul 2019. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
3757973010 | Dystonia 24 | en | Synonym | Active | Case insensitive | SNOMED CT core |
3757974016 | Cranio-cervical dystonia with laryngeal and upper limb involvement | en | Synonym | Active | Case insensitive | SNOMED CT core |
3757975015 | DYT24 - dystonia 24 | en | Synonym | Active | Case sensitive | SNOMED CT core |
3757976019 | Cranio-cervical dystonia with laryngeal and upper limb involvement (disorder) | en | Fully specified name | Active | Case insensitive | SNOMED CT core |
3757977011 | A rare genetic isolated dystonia with characteristics of a variable combination of cervical dystonia with tremor, blepharospasm, oromandibular and laryngeal dystonia. Dystonia progresses slowly and might spread to become segmental. Arm tremor and myoclonic jerks in the arms or neck have also been reported. Caused by heterozygous mutation in the ANO3 gene on chromosome 11p14. | en | Definition | Active | Case sensitive | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Cranio-cervical dystonia with laryngeal and upper limb involvement | Is a | Autosomal dominant hereditary disorder | true | Inferred relationship | Some | ||
Cranio-cervical dystonia with laryngeal and upper limb involvement | Is a | Chronic brain syndrome | true | Inferred relationship | Some | ||
Cranio-cervical dystonia with laryngeal and upper limb involvement | Is a | Hereditary disorder of nervous system | true | Inferred relationship | Some | ||
Cranio-cervical dystonia with laryngeal and upper limb involvement | Is a | Isolated cervical dystonia | true | Inferred relationship | Some | ||
Cranio-cervical dystonia with laryngeal and upper limb involvement | Clinical course | Progressive | true | Inferred relationship | Some | 1 | |
Cranio-cervical dystonia with laryngeal and upper limb involvement | Finding site | Extrapyramidal system structure | true | Inferred relationship | Some | 2 | |
Cranio-cervical dystonia with laryngeal and upper limb involvement | 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