Status: current, Primitive. 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 | Case sensitive | SNOMED CT core |
3702479016 | X-linked parkinsonism with spasticity syndrome | en | Synonym | Active | Case sensitive | SNOMED CT core |
3702480018 | XPDS - X-linked parkinsonism with spasticity syndrome | en | Synonym | Active | Case sensitive | 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 | Case sensitive | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
X-linked parkinsonism with spasticity syndrome | Interprets | Movement | true | Inferred relationship | Some | 5 | |
X-linked parkinsonism with spasticity syndrome | Has interpretation | Slow | true | Inferred relationship | Some | 5 | |
X-linked parkinsonism with spasticity syndrome | Is a | X-linked recessive hereditary disease | true | Inferred relationship | Some | ||
X-linked parkinsonism with spasticity syndrome | Is a | Hereditary disorder of musculoskeletal system | true | Inferred relationship | Some | ||
X-linked parkinsonism with spasticity syndrome | Has interpretation | Increased | true | Inferred relationship | Some | 1 | |
X-linked parkinsonism with spasticity syndrome | Is a | X-linked hereditary disease | false | Inferred relationship | Some | ||
X-linked parkinsonism with spasticity syndrome | Interprets | Muscle tone | true | Inferred relationship | Some | 1 | |
X-linked parkinsonism with spasticity syndrome | Is a | Hereditary disorder of nervous system | true | Inferred relationship | Some | ||
X-linked parkinsonism with spasticity syndrome | Is a | Disorder of skeletal muscle | true | Inferred relationship | Some | ||
X-linked parkinsonism with spasticity syndrome | Finding site | Skeletal muscle structure | true | Inferred relationship | Some | 2 | |
X-linked parkinsonism with spasticity syndrome | Is a | Parkinsonism | true | Inferred relationship | Some | ||
X-linked parkinsonism with spasticity syndrome | Is a | Spasticity | true | Inferred relationship | Some | ||
X-linked parkinsonism with spasticity syndrome | Finding site | Basal ganglion structure | true | Inferred relationship | Some | 3 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Australian emergency department reference set
Queensland allied health clinical finding reference set
Queensland allied health indicator for intervention reference set
Clinical finding foundation reference set
Musculoskeletal finding reference set
Problem/Diagnosis reference set