Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
3702478012 | X-linked parkinsonism with spasticity syndrome (disorder) | en | Fully specified name | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3702479016 | X-linked parkinsonism with spasticity syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3702480018 | XPDS - X-linked parkinsonism with spasticity syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3702481019 | A rare genetic neurological disorder with characteristics of parkinsonian features (including resting or action tremor, cogwheel rigidity, hypomimia and bradykinesia) associated with variably penetrant spasticity, hyperactive deep tendon reflexes and Babinski sign. There is evidence this disease is caused by hemizygous mutation in the ATP6AP2 gene on chromosome Xp11. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
4518451000172113 | X-gebonden parkinsonisme-spasticiteit-syndroom | nl | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | Belgian module (core metadata concept) |
4518461000172110 | syndroom van X-gebonden parkinsonisme met spasticiteit | nl | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | Belgian module (core metadata concept) |
4518471000172118 | XPDS | nl | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | Belgian module (core metadata concept) |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
X-linked parkinsonism with spasticity syndrome (disorder) | Is a | Hereditary disorder of musculoskeletal system | true | Inferred relationship | Some | ||
X-linked parkinsonism with spasticity syndrome (disorder) | Has interpretation | Increased | true | Inferred relationship | Some | 1 | |
X-linked parkinsonism with spasticity syndrome (disorder) | Is a | X-linked hereditary disease | false | Inferred relationship | Some | ||
X-linked parkinsonism with spasticity syndrome (disorder) | Interprets | Muscle tone | true | Inferred relationship | Some | 1 | |
X-linked parkinsonism with spasticity syndrome (disorder) | Is a | Hereditary disorder of nervous system | true | Inferred relationship | Some | ||
X-linked parkinsonism with spasticity syndrome (disorder) | Is a | Disorder of skeletal muscle | true | Inferred relationship | Some | ||
X-linked parkinsonism with spasticity syndrome (disorder) | Finding site | Skeletal muscle structure (body structure) | true | Inferred relationship | Some | 2 | |
X-linked parkinsonism with spasticity syndrome (disorder) | Is a | Parkinsonism | true | Inferred relationship | Some | ||
X-linked parkinsonism with spasticity syndrome (disorder) | Is a | Spasticity | true | Inferred relationship | Some | ||
X-linked parkinsonism with spasticity syndrome (disorder) | Finding site | Basal ganglion structure (body structure) | true | Inferred relationship | Some | 3 | |
X-linked parkinsonism with spasticity syndrome (disorder) | Interprets | Movement | true | Inferred relationship | Some | 5 | |
X-linked parkinsonism with spasticity syndrome (disorder) | Has interpretation | Slow | true | Inferred relationship | Some | 5 | |
X-linked parkinsonism with spasticity syndrome (disorder) | Is a | X-linked recessive hereditary disease | true | Inferred relationship | Some |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets