Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3439450015 | Atypical juvenile parkinsonism (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3439451016 | Atypical juvenile parkinsonism | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3439452011 | A complex form of young-onset Parkinson disease that manifests with pyramidal signs, eye movement abnormalities, psychiatric manifestations (depression, anxiety, drug-induced psychosis, and impulse control disorders), intellectual disability, and other neurological symptoms (such as ataxia and epilepsy) along with classical parkinsonian symptoms. To date, only six families have been reported. Mutations in the genes ATP13A2 (1p36), PLA2G6 (22q13.1), FBXO7 (22q12.3), DNAJC6 (1p31.3), SPG11 (15q13-q15), SPG15 (14q24.1) and SYNJ1 (21q22.2) are associated with this disease. Usually occurs in an autosomal recessive manner however, sporadic cases have also been reported and the majority of these cases are born from consanguineous parents. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 971081000172114 | parkinsonisme atypique juvénile | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | Belgian module (core metadata concept) |
| 898701000172110 | atypisch juveniel parkinsonisme | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | Belgian module (core metadata concept) |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Atypical juvenile parkinsonism (disorder) | Is a | Young onset Parkinson disease (disorder) | true | Inferred relationship | Some | ||
| Atypical juvenile parkinsonism (disorder) | Is a | Atypical Parkinsonism (disorder) | true | Inferred relationship | Some | ||
| Atypical juvenile parkinsonism (disorder) | Finding site | Basal ganglion structure (body structure) | true | Inferred relationship | Some | 1 | |
| Atypical juvenile parkinsonism (disorder) | Causative agent | Alpha-synuclein | false | Inferred relationship | Some | 1 | |
| Atypical juvenile parkinsonism (disorder) | Associated morphology | Degenerative abnormality | true | Inferred relationship | Some | 1 | |
| Atypical juvenile parkinsonism (disorder) | Interprets | Movement | true | Inferred relationship | Some | 3 | |
| Atypical juvenile parkinsonism (disorder) | Has interpretation | Slow | true | Inferred relationship | Some | 3 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR