Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2019. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3766856017 | Autosomal dominant spastic paraplegia type 8 | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3766857014 | Autosomal dominant spastic paraplegia type 8 (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3766858016 | A pure or complex form of hereditary spastic paraplegia with characteristics of a childhood to adulthood onset of slowly progressive lower limb spasticity resulting in gait disturbances, hyperreflexia and extensor plantar responses, that may be associated with complicating signs, such as upper limb involvement, sensory neuropathy, ataxia (such as mild dysmetria, uncoordinated eye movement) and mild dysphagia. Additional symptoms, including urinary urgency and/or incontinence, muscle weakness, decreased vibration sense and mild muscular atrophy in lower extremities, may also be associated. Caused by heterozygous mutation in the WASHC5 gene on chromosome 8q24. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Autosomal dominant spastic paraplegia type 8 | Occurrence | Congenital | false | Inferred relationship | Some | 1 | |
| Autosomal dominant spastic paraplegia type 8 | Finding site | Spinal cord structure | true | Inferred relationship | Some | 1 | |
| Autosomal dominant spastic paraplegia type 8 | Associated morphology | Degeneration | false | Inferred relationship | Some | 1 | |
| Autosomal dominant spastic paraplegia type 8 | Is a | Chronic paraplegia (disorder) | false | Inferred relationship | Some | ||
| Autosomal dominant spastic paraplegia type 8 | Is a | Autosomal dominant hereditary spastic paraplegia | true | Inferred relationship | Some | ||
| Autosomal dominant spastic paraplegia type 8 | Clinical course | Progressive (qualifier value) | true | Inferred relationship | Some | 2 | |
| Autosomal dominant spastic paraplegia type 8 | Finding site | Lower limb structure | false | Inferred relationship | Some | 3 | |
| Autosomal dominant spastic paraplegia type 8 | Associated morphology | Degenerative abnormality | true | Inferred relationship | Some | 1 | |
| Autosomal dominant spastic paraplegia type 8 | Interprets | Movement | true | Inferred relationship | Some | 6 | |
| Autosomal dominant spastic paraplegia type 8 | Finding site | Structure of right lower limb (body structure) | true | Inferred relationship | Some | 4 | |
| Autosomal dominant spastic paraplegia type 8 | Finding site | Structure of left lower limb (body structure) | true | Inferred relationship | Some | 5 | |
| Autosomal dominant spastic paraplegia type 8 | Interprets | Movement observable | true | Inferred relationship | Some | 3 | |
| Autosomal dominant spastic paraplegia type 8 | Has interpretation | Absent | true | Inferred relationship | Some | 3 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR