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 |
| 760891000241117 | parkinsonisme atypique juvénile (trouble) | fr | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 971081000172114 | parkinsonisme atypique juvénile | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 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 |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Atypical juvenile parkinsonism (disorder) | Causative agent | alpha-synucléine | false | Inferred relationship | Some | 1 | |
| Atypical juvenile parkinsonism (disorder) | morphologie associée (attribut) | Degenerative abnormality | true | Inferred relationship | Some | 1 | |
| Atypical juvenile parkinsonism (disorder) | interprète (attribut) | Movement (observable entity) | true | Inferred relationship | Some | 3 | |
| Atypical juvenile parkinsonism (disorder) | a pour interprétation (attribut) | lent | true | Inferred relationship | Some | 3 | |
| Atypical juvenile parkinsonism (disorder) | est un(e) (attribut) | maladie de Parkinson à début précoce | true | Inferred relationship | Some | ||
| Atypical juvenile parkinsonism (disorder) | est un(e) (attribut) | Atypical Parkinsonism (disorder) | true | Inferred relationship | Some | ||
| Atypical juvenile parkinsonism (disorder) | localisation d'une constatation (attribut) | Basal ganglion structure (body structure) | true | Inferred relationship | Some | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR