Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). 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 | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3498420019 | Autosomal dominant spastic paraplegia type 10 | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
5403647018 | A rare, hereditary spastic paraplegia that can present as either a pure or complex phenotype. The pure form is characterized by lower limb spasticity, hyperreflexia and extensor plantar responses, presenting in childhood or adolescence. The complex form is characterized by the association with additional manifestations including peripheral neuropathy with upper limb muscle atrophy, moderate intellectual disability and parkinsonism. Deafness and retinitis pigmentosa have also been reported. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
5403648011 | A rare, hereditary spastic paraplegia that can present as either a pure or complex phenotype. The pure form is characterised by lower limb spasticity, hyperreflexia and extensor plantar responses, presenting in childhood or adolescence. The complex form is characterised by the association with additional manifestations including peripheral neuropathy with upper limb muscle atrophy, moderate intellectual disability and parkinsonism. Deafness and retinitis pigmentosa have also been reported. | 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 10 (disorder) | Is a | Autosomal dominant hereditary disorder | false | Inferred relationship | Some | ||
Autosomal dominant spastic paraplegia type 10 (disorder) | Is a | Hereditary spastic paraplegia | false | Inferred relationship | Some | ||
Autosomal dominant spastic paraplegia type 10 (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | ||
Autosomal dominant spastic paraplegia type 10 (disorder) | Finding site | Lower limb structure | false | Inferred relationship | Some | ||
Autosomal dominant spastic paraplegia type 10 (disorder) | Associated morphology | Degeneration | false | Inferred relationship | Some | 3 | |
Autosomal dominant spastic paraplegia type 10 (disorder) | Finding site | Spinal cord structure | false | Inferred relationship | Some | 3 | |
Autosomal dominant spastic paraplegia type 10 (disorder) | Finding site | Cerebellar structure | false | Inferred relationship | Some | 3 | |
Autosomal dominant spastic paraplegia type 10 (disorder) | Associated morphology | Degeneration | false | Inferred relationship | Some | 1 | |
Autosomal dominant spastic paraplegia type 10 (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 1 | |
Autosomal dominant spastic paraplegia type 10 (disorder) | Finding site | Spinal cord structure | true | Inferred relationship | Some | 1 | |
Autosomal dominant spastic paraplegia type 10 (disorder) | Is a | Autosomal dominant hereditary spastic paraplegia | true | Inferred relationship | Some | ||
Autosomal dominant spastic paraplegia type 10 (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 2 | |
Autosomal dominant spastic paraplegia type 10 (disorder) | Finding site | Lower limb structure | false | Inferred relationship | Some | 2 | |
Autosomal dominant spastic paraplegia type 10 (disorder) | Associated morphology | Degenerative abnormality | true | Inferred relationship | Some | 1 | |
Autosomal dominant spastic paraplegia type 10 (disorder) | Clinical course | Progressive (qualifier value) | true | Inferred relationship | Some | 3 | |
Autosomal dominant spastic paraplegia type 10 (disorder) | Interprets | Movement | true | Inferred relationship | Some | 6 | |
Autosomal dominant spastic paraplegia type 10 (disorder) | Finding site | Structure of right lower limb (body structure) | true | Inferred relationship | Some | 4 | |
Autosomal dominant spastic paraplegia type 10 (disorder) | Finding site | Structure of left lower limb (body structure) | true | Inferred relationship | Some | 5 | |
Autosomal dominant spastic paraplegia type 10 (disorder) | Interprets | Movement observable | true | Inferred relationship | Some | 2 | |
Autosomal dominant spastic paraplegia type 10 (disorder) | Has interpretation | Absent | true | Inferred relationship | Some | 2 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)