Status: current, Defined. Date: 30-Sep 2021. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
3320934019 | Adult-onset dystonia parkinsonism (disorder) | en | Fully specified name | Active | Case insensitive | SNOMED CT core |
3320935018 | Adult-onset dystonia parkinsonism | en | Synonym | Active | Case insensitive | SNOMED CT core |
3320936017 | Dystonia parkinsonism Paisan-Ruiz type | en | Synonym | Active | Initial character case insensitive | SNOMED CT core |
3320937014 | PLA2G6 (phospholipase A2 group VI) related dystonia parkinsonism | en | Synonym | Active | Case sensitive | SNOMED CT core |
3320938016 | A rare neurodegenerative disease usually presenting before the age of 30 with characteristics of dystonia, L-dopa-responsive parkinsonism, pyramidal signs and rapid cognitive decline. Prevalence is unknown. Only 14 cases have been reported to date. Caused by mutations in the phospholipase A2, group VI (PLA2G6) gene located on chromosome 22q13.1. Inherited in an autosomal recessive manner. | en | Definition | Active | Case sensitive | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Adult-onset dystonia parkinsonism | Interprets | Movement | true | Inferred relationship | Some | 4 | |
Adult-onset dystonia parkinsonism | Has interpretation | Slow | true | Inferred relationship | Some | 4 | |
Adult-onset dystonia parkinsonism | Is a | Dystonia | true | Inferred relationship | Some | ||
Adult-onset dystonia parkinsonism | Is a | Parkinsonism | true | Inferred relationship | Some | ||
Adult-onset dystonia parkinsonism | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
Adult-onset dystonia parkinsonism | Is a | Hereditary disorder of nervous system | true | Inferred relationship | Some | ||
Adult-onset dystonia parkinsonism | Occurrence | Adulthood | true | Inferred relationship | Some | 1 | |
Adult-onset dystonia parkinsonism | Finding site | Basal ganglion structure | true | Inferred relationship | Some | 2 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Australian emergency department reference set
Clinical finding foundation reference set
Problem/Diagnosis reference set