Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). 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 | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3320935018 | Adult-onset dystonia parkinsonism | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3320936017 | Dystonia parkinsonism Paisan-Ruiz type | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3320937014 | PLA2G6 (phospholipase A2 group VI) related dystonia parkinsonism | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | 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 | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Adult-onset dystonia parkinsonism (disorder) | Is a | Dystonia | true | Inferred relationship | Some | ||
| Adult-onset dystonia parkinsonism (disorder) | Is a | Parkinsonism | true | Inferred relationship | Some | ||
| Adult-onset dystonia parkinsonism (disorder) | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Adult-onset dystonia parkinsonism (disorder) | Is a | Hereditary disorder of nervous system | true | Inferred relationship | Some | ||
| Adult-onset dystonia parkinsonism (disorder) | Occurrence | Adulthood | true | Inferred relationship | Some | 1 | |
| Adult-onset dystonia parkinsonism (disorder) | Finding site | Basal ganglion structure (body structure) | true | Inferred relationship | Some | 2 | |
| Adult-onset dystonia parkinsonism (disorder) | Interprets | Movement | true | Inferred relationship | Some | 4 | |
| Adult-onset dystonia parkinsonism (disorder) | Has interpretation | Slow | true | Inferred relationship | Some | 4 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR