Status: current, Primitive. Date: 31-Jan 2019. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3702238015 | Autosomal recessive spastic paraplegia type 58 | en | Synonym | Active | Case insensitive | SNOMED CT core |
| 3702239011 | Autosomal recessive spastic ataxia type 2 | en | Synonym | Active | Case insensitive | SNOMED CT core |
| 3702240013 | Autosomal recessive spastic paraplegia type 58 (disorder) | en | Fully specified name | Active | Case insensitive | SNOMED CT core |
| 3702241012 | A rare complex subtype of hereditary spastic paraplegia with characteristics of variable onset of slowly progressive lower limb spasticity and weakness and prominent cerebellar ataxia, associated with gait disturbances, dysarthria, increased deep tendon reflexes and extensor plantar responses. Additional features may include involuntary movements (such as clonus, tremor, fasciculations, chorea), decreased vibration sense, oculomotor abnormalities (for example nystagmus) and distal amyotrophy in the upper and lower limbs. Caused by homozygous mutation in the KIF1C gene on chromosome 17p13. | en | Definition | Active | Case sensitive | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Autosomal recessive spastic paraplegia type 58 | Associated morphology | Degenerative abnormality | true | Inferred relationship | Some | 1 | |
| Autosomal recessive spastic paraplegia type 58 | Is a | Autosomal recessive hereditary spastic paraplegia | true | Inferred relationship | Some | ||
| Autosomal recessive spastic paraplegia type 58 | Clinical course | Progressive | true | Inferred relationship | Some | 3 | |
| Autosomal recessive spastic paraplegia type 58 | Interprets | Movement | true | Inferred relationship | Some | 6 | |
| Autosomal recessive spastic paraplegia type 58 | Finding site | Structure of right lower limb | true | Inferred relationship | Some | 2 | |
| Autosomal recessive spastic paraplegia type 58 | Finding site | Structure of left lower limb | true | Inferred relationship | Some | 5 | |
| Autosomal recessive spastic paraplegia type 58 | Interprets | Movement observable | true | Inferred relationship | Some | 4 | |
| Autosomal recessive spastic paraplegia type 58 | Has interpretation | Absent | true | Inferred relationship | Some | 4 | |
| Autosomal recessive spastic paraplegia type 58 | Occurrence | Congenital | false | Inferred relationship | Some | 1 | |
| Autosomal recessive spastic paraplegia type 58 | Occurrence | Congenital | false | Inferred relationship | Some | 2 | |
| Autosomal recessive spastic paraplegia type 58 | Finding site | Spinal cord structure | true | Inferred relationship | Some | 1 | |
| Autosomal recessive spastic paraplegia type 58 | Associated morphology | Degeneration | false | Inferred relationship | Some | 1 | |
| Autosomal recessive spastic paraplegia type 58 | Is a | Complicated hereditary spastic paraplegia | true | Inferred relationship | Some | ||
| Autosomal recessive spastic paraplegia type 58 | Is a | Autosomal recessive hereditary disorder | false | Inferred relationship | Some | ||
| Autosomal recessive spastic paraplegia type 58 | 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
Australian dialect reference set
Problem/Diagnosis reference set
FHIR