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 |
| 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 | Inactive | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5402347017 | A rare neurodegenerative disease usually presenting before the age of 30 and which is characterized by dystonia, L-dopa-responsive parkinsonism, pyramidal signs and rapid cognitive decline. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5402348010 | A rare neurodegenerative disease usually presenting before the age of 30 and which is characterised by dystonia, L-dopa-responsive parkinsonism, pyramidal signs and rapid cognitive decline. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 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 |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| A rare neurodegenerative disease usually presenting before the age of 30 and which is characterized by dystonia, L-dopa-responsive parkinsonism, pyramidal signs and rapid cognitive decline. | Is a | Dystonia | true | Inferred relationship | Some | ||
| A rare neurodegenerative disease usually presenting before the age of 30 and which is characterized by dystonia, L-dopa-responsive parkinsonism, pyramidal signs and rapid cognitive decline. | Is a | Parkinsonism | true | Inferred relationship | Some | ||
| A rare neurodegenerative disease usually presenting before the age of 30 and which is characterized by dystonia, L-dopa-responsive parkinsonism, pyramidal signs and rapid cognitive decline. | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| A rare neurodegenerative disease usually presenting before the age of 30 and which is characterized by dystonia, L-dopa-responsive parkinsonism, pyramidal signs and rapid cognitive decline. | Is a | Hereditary disorder of nervous system | true | Inferred relationship | Some | ||
| A rare neurodegenerative disease usually presenting before the age of 30 and which is characterized by dystonia, L-dopa-responsive parkinsonism, pyramidal signs and rapid cognitive decline. | Occurrence | Adulthood | true | Inferred relationship | Some | 1 | |
| A rare neurodegenerative disease usually presenting before the age of 30 and which is characterized by dystonia, L-dopa-responsive parkinsonism, pyramidal signs and rapid cognitive decline. | Finding site | Basal ganglion structure (body structure) | true | Inferred relationship | Some | 2 | |
| A rare neurodegenerative disease usually presenting before the age of 30 and which is characterized by dystonia, L-dopa-responsive parkinsonism, pyramidal signs and rapid cognitive decline. | Interprets | Movement | true | Inferred relationship | Some | 4 | |
| A rare neurodegenerative disease usually presenting before the age of 30 and which is characterized by dystonia, L-dopa-responsive parkinsonism, pyramidal signs and rapid cognitive decline. | Has interpretation | Slow | true | Inferred relationship | Some | 4 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)
FHIR