Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2018. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3640260011 | Autosomal dominant spastic paraplegia type 12 (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3640261010 | Autosomal dominant spastic paraplegia type 12 | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3640262015 | A pure form of hereditary spastic paraplegia with a childhood to adulthood-onset of slowly progressive lower limb spasticity and hyperreflexia of lower extremities, extensor plantar reflexes, distal sensory impairment, variable urinary dysfunction and pes cavus. The disease is caused by heterozygous mutation in the RTN2 gene on chromosome 19q13. | 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 12 (disorder) | Is a | Pure hereditary spastic paraplegia | true | Inferred relationship | Some | ||
| Autosomal dominant spastic paraplegia type 12 (disorder) | Is a | Autosomal dominant hereditary spastic paraplegia | true | Inferred relationship | Some | ||
| Autosomal dominant spastic paraplegia type 12 (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 1 | |
| Autosomal dominant spastic paraplegia type 12 (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 2 | |
| Autosomal dominant spastic paraplegia type 12 (disorder) | Associated morphology | Degeneration | false | Inferred relationship | Some | 2 | |
| Autosomal dominant spastic paraplegia type 12 (disorder) | Finding site | Spinal cord structure | false | Inferred relationship | Some | 2 | |
| Autosomal dominant spastic paraplegia type 12 (disorder) | Finding site | Lower limb structure | false | Inferred relationship | Some | 1 | |
| Autosomal dominant spastic paraplegia type 12 (disorder) | Associated morphology | Degenerative abnormality | false | Inferred relationship | Some | 2 | |
| Autosomal dominant spastic paraplegia type 12 (disorder) | Clinical course | Progressive (qualifier value) | true | Inferred relationship | Some | 3 | |
| Autosomal dominant spastic paraplegia type 12 (disorder) | Finding site | Lower limb structure | false | Inferred relationship | Some | 2 | |
| Autosomal dominant spastic paraplegia type 12 (disorder) | Finding site | Spinal cord structure | true | Inferred relationship | Some | 1 | |
| Autosomal dominant spastic paraplegia type 12 (disorder) | Associated morphology | Degenerative abnormality | true | Inferred relationship | Some | 1 | |
| Autosomal dominant spastic paraplegia type 12 (disorder) | Interprets | Movement | true | Inferred relationship | Some | 6 | |
| Autosomal dominant spastic paraplegia type 12 (disorder) | Finding site | Structure of right lower limb (body structure) | true | Inferred relationship | Some | 4 | |
| Autosomal dominant spastic paraplegia type 12 (disorder) | Finding site | Structure of left lower limb (body structure) | true | Inferred relationship | Some | 5 | |
| Autosomal dominant spastic paraplegia type 12 (disorder) | Interprets | Movement observable | true | Inferred relationship | Some | 2 | |
| Autosomal dominant spastic paraplegia type 12 (disorder) | Has interpretation | Absent | true | Inferred relationship | Some | 2 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR