Status: current, Primitive. Date: 31-Jul 2017. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3498419013 | Autosomal dominant spastic paraplegia type 10 (disorder) | en | Fully specified name | Active | Case insensitive | SNOMED CT core |
| 3498420019 | Autosomal dominant spastic paraplegia type 10 | en | Synonym | Active | Case insensitive | SNOMED CT core |
| 3499915016 | A rare type of hereditary spastic paraplegia that can present as either a pure form of spastic paraplegia with lower limb spasticity, hyperreflexia and extensor plantar responses, presenting in childhood or adolescence, or as a complex phenotype associated with additional manifestations including peripheral neuropathy with upper limb amyotrophy, moderate intellectual disability and parkinsonism. Deafness and retinitis pigmentosa were reported in one case. Caused by mutations in the KIF5A gene (12q13.13) encoding the protein kinesin heavy chain isoform 5A. | en | Definition | Active | Case sensitive | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Autosomal dominant spastic paraplegia type 10 | Associated morphology | Degenerative abnormality | true | Inferred relationship | Some | 1 | |
| Autosomal dominant spastic paraplegia type 10 | Clinical course | Progressive | true | Inferred relationship | Some | 3 | |
| Autosomal dominant spastic paraplegia type 10 | Interprets | Movement | true | Inferred relationship | Some | 6 | |
| Autosomal dominant spastic paraplegia type 10 | Finding site | Structure of right lower limb | true | Inferred relationship | Some | 4 | |
| Autosomal dominant spastic paraplegia type 10 | Finding site | Structure of left lower limb | true | Inferred relationship | Some | 5 | |
| Autosomal dominant spastic paraplegia type 10 | Interprets | Movement observable | true | Inferred relationship | Some | 2 | |
| Autosomal dominant spastic paraplegia type 10 | Has interpretation | Absent | true | Inferred relationship | Some | 2 | |
| Autosomal dominant spastic paraplegia type 10 | Is a | Autosomal dominant hereditary disorder | false | Inferred relationship | Some | ||
| Autosomal dominant spastic paraplegia type 10 | Is a | Hereditary spastic paraplegia | false | Inferred relationship | Some | ||
| Autosomal dominant spastic paraplegia type 10 | Occurrence | Congenital | false | Inferred relationship | Some | ||
| Autosomal dominant spastic paraplegia type 10 | Finding site | Structure of lower limb | false | Inferred relationship | Some | ||
| Autosomal dominant spastic paraplegia type 10 | Associated morphology | Degeneration | false | Inferred relationship | Some | 3 | |
| Autosomal dominant spastic paraplegia type 10 | Finding site | Spinal cord structure | false | Inferred relationship | Some | 3 | |
| Autosomal dominant spastic paraplegia type 10 | Finding site | Cerebellar structure | false | Inferred relationship | Some | 3 | |
| Autosomal dominant spastic paraplegia type 10 | Associated morphology | Degeneration | false | Inferred relationship | Some | 1 | |
| Autosomal dominant spastic paraplegia type 10 | Occurrence | Congenital | false | Inferred relationship | Some | 1 | |
| Autosomal dominant spastic paraplegia type 10 | Finding site | Spinal cord structure | true | Inferred relationship | Some | 1 | |
| Autosomal dominant spastic paraplegia type 10 | Is a | Autosomal dominant hereditary spastic paraplegia | true | Inferred relationship | Some | ||
| Autosomal dominant spastic paraplegia type 10 | Occurrence | Congenital | false | Inferred relationship | Some | 2 | |
| Autosomal dominant spastic paraplegia type 10 | Finding site | Structure of lower limb | false | Inferred relationship | Some | 2 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Australian emergency department reference set
Clinical finding foundation reference set
Problem/Diagnosis reference set
FHIR