Status: current, Primitive. Date: 31-Jul 2017. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3426259011 | Autosomal dominant spastic paraplegia type 4 (disorder) | en | Fully specified name | Active | Case insensitive | SNOMED CT core |
| 3426260018 | Autosomal dominant spastic paraplegia type 4 | en | Synonym | Active | Case insensitive | SNOMED CT core |
| 3426261019 | A form of hereditary spastic paraplegia with high intrafamilial clinical variability. Characterized in most cases as a pure phenotype with an adult onset (mainly the third to fifth decade of life, but that can present at any age) with progressive gait impairment due to bilateral lower-limb spasticity and weakness as well as very mild proximal weakness and urinary urgency. In some cases, a complex phenotype is also reported with additional manifestations including cognitive impairment, cerebellar ataxia, epilepsy and neuropathy. A faster disease progression is noted in patients with a later age of onset. Caused by mutations in the SPAST gene (2p24-p21), encoding spastin. | en | Definition | Active | Case sensitive | SNOMED CT core |
| 3426262014 | A form of hereditary spastic paraplegia with high intrafamilial clinical variability. Characterised in most cases as a pure phenotype with an adult onset (mainly the third to fifth decade of life, but that can present at any age) with progressive gait impairment due to bilateral lower-limb spasticity and weakness as well as very mild proximal weakness and urinary urgency. In some cases, a complex phenotype is also reported with additional manifestations including cognitive impairment, cerebellar ataxia, epilepsy and neuropathy. A faster disease progression is noted in patients with a later age of onset. Caused by mutations in the SPAST gene (2p24-p21), encoding spastin. | en | Definition | Active | Case sensitive | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Autosomal dominant spastic paraplegia type 4 | Associated morphology | Degenerative abnormality | true | Inferred relationship | Some | 1 | |
| Autosomal dominant spastic paraplegia type 4 | Clinical course | Progressive | true | Inferred relationship | Some | 3 | |
| Autosomal dominant spastic paraplegia type 4 | Interprets | Movement | true | Inferred relationship | Some | 6 | |
| Autosomal dominant spastic paraplegia type 4 | Finding site | Structure of right lower limb | true | Inferred relationship | Some | 4 | |
| Autosomal dominant spastic paraplegia type 4 | Finding site | Structure of left lower limb | true | Inferred relationship | Some | 5 | |
| Autosomal dominant spastic paraplegia type 4 | Interprets | Movement observable | true | Inferred relationship | Some | 2 | |
| Autosomal dominant spastic paraplegia type 4 | Has interpretation | Absent | true | Inferred relationship | Some | 2 | |
| Autosomal dominant spastic paraplegia type 4 | Is a | Autosomal dominant hereditary disorder | false | Inferred relationship | Some | ||
| Autosomal dominant spastic paraplegia type 4 | Is a | Hereditary spastic paraplegia | false | Inferred relationship | Some | ||
| Autosomal dominant spastic paraplegia type 4 | Occurrence | Congenital | false | Inferred relationship | Some | ||
| Autosomal dominant spastic paraplegia type 4 | Finding site | Structure of lower limb | false | Inferred relationship | Some | ||
| Autosomal dominant spastic paraplegia type 4 | Associated morphology | Degeneration | false | Inferred relationship | Some | 3 | |
| Autosomal dominant spastic paraplegia type 4 | Finding site | Spinal cord structure | false | Inferred relationship | Some | 3 | |
| Autosomal dominant spastic paraplegia type 4 | Finding site | Cerebellar structure | false | Inferred relationship | Some | 3 | |
| Autosomal dominant spastic paraplegia type 4 | Associated morphology | Degeneration | false | Inferred relationship | Some | 1 | |
| Autosomal dominant spastic paraplegia type 4 | Occurrence | Congenital | false | Inferred relationship | Some | 1 | |
| Autosomal dominant spastic paraplegia type 4 | Finding site | Spinal cord structure | true | Inferred relationship | Some | 1 | |
| Autosomal dominant spastic paraplegia type 4 | Is a | Autosomal dominant hereditary spastic paraplegia | true | Inferred relationship | Some | ||
| Autosomal dominant spastic paraplegia type 4 | Occurrence | Congenital | false | Inferred relationship | Some | 2 | |
| Autosomal dominant spastic paraplegia type 4 | 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