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 |
3439365018 | Spastic paraplegia, optic atrophy, neuropathy syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3439366017 | Spastic paraplegia, optic atrophy, neuropathy syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3439367014 | SPOAN (spastic paraplegia, optic atrophy, neuropathy) syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3439368016 | A rare complex type of hereditary spastic paraplegia with characteristics of early-onset progressive spastic paraplegia presenting in infancy. The disease is associated with optic atrophy, fixation nystagmus and polyneuropathy occurring in late childhood/early adolescence leading to severe motor disability and progressive joint contractures and scoliosis. Caused by mutations in the KLC2 gene (11q13.1), encoding kinesin light chain 2. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3991861000052118 | syndrom med spastisk paraplegi, optikusatrofi och neuropati | sv | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Sweden NRC maintained module (core metadata concept) |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Spastic paraplegia, optic atrophy, neuropathy syndrome (disorder) | Is a | Hereditary optic atrophy | false | Inferred relationship | Some | ||
Spastic paraplegia, optic atrophy, neuropathy syndrome (disorder) | Is a | Autosomal recessive hereditary disorder | false | Inferred relationship | Some | ||
Spastic paraplegia, optic atrophy, neuropathy syndrome (disorder) | Is a | Complicated hereditary spastic paraplegia | false | Inferred relationship | Some | ||
Spastic paraplegia, optic atrophy, neuropathy syndrome (disorder) | Is a | Hereditary motor and sensory neuropathy (disorder) | false | Inferred relationship | Some | ||
Spastic paraplegia, optic atrophy, neuropathy syndrome (disorder) | Is a | Congenital atrophy of optic nerve (disorder) | false | Inferred relationship | Some | ||
Spastic paraplegia, optic atrophy, neuropathy syndrome (disorder) | Finding site | Peripheral nervous system structure | false | Inferred relationship | Some | 4 | |
Spastic paraplegia, optic atrophy, neuropathy syndrome (disorder) | Finding site | Lower limb structure | false | Inferred relationship | Some | ||
Spastic paraplegia, optic atrophy, neuropathy syndrome (disorder) | Associated morphology | degeneration | false | Inferred relationship | Some | 5 | |
Spastic paraplegia, optic atrophy, neuropathy syndrome (disorder) | Finding site | Spinal cord structure | false | Inferred relationship | Some | 5 | |
Spastic paraplegia, optic atrophy, neuropathy syndrome (disorder) | Finding site | Cerebellar structure | false | Inferred relationship | Some | 5 | |
Spastic paraplegia, optic atrophy, neuropathy syndrome (disorder) | Associated morphology | Primary atrophy | false | Inferred relationship | Some | 6 | |
Spastic paraplegia, optic atrophy, neuropathy syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 6 | |
Spastic paraplegia, optic atrophy, neuropathy syndrome (disorder) | Finding site | Optic nerve structure | false | Inferred relationship | Some | 6 | |
Spastic paraplegia, optic atrophy, neuropathy syndrome (disorder) | Associated morphology | degeneration | false | Inferred relationship | Some | 1 | |
Spastic paraplegia, optic atrophy, neuropathy syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 1 | |
Spastic paraplegia, optic atrophy, neuropathy syndrome (disorder) | Finding site | Spinal cord structure | true | Inferred relationship | Some | 1 | |
Spastic paraplegia, optic atrophy, neuropathy syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 2 | |
Spastic paraplegia, optic atrophy, neuropathy syndrome (disorder) | Finding site | Lower limb structure | false | Inferred relationship | Some | 2 | |
Spastic paraplegia, optic atrophy, neuropathy syndrome (disorder) | Associated morphology | Degenerative abnormality (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
Spastic paraplegia, optic atrophy, neuropathy syndrome (disorder) | Clinical course | Progressive (qualifier value) | true | Inferred relationship | Some | 4 | |
Spastic paraplegia, optic atrophy, neuropathy syndrome (disorder) | Is a | SPOAN and SPOAN-related disorder | true | Inferred relationship | Some | ||
Spastic paraplegia, optic atrophy, neuropathy syndrome (disorder) | Finding site | Lower limb structure | true | Inferred relationship | Some | 3 | |
Spastic paraplegia, optic atrophy, neuropathy syndrome (disorder) | Finding site | Optic nerve structure | true | Inferred relationship | Some | 2 | |
Spastic paraplegia, optic atrophy, neuropathy syndrome (disorder) | Associated morphology | Primary atrophy | true | Inferred relationship | Some | 2 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets