Status: current, Primitive. 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 | Case insensitive | SNOMED CT core |
3439366017 | Spastic paraplegia, optic atrophy, neuropathy syndrome | en | Synonym | Active | Case insensitive | SNOMED CT core |
3439367014 | SPOAN (spastic paraplegia, optic atrophy, neuropathy) syndrome | en | Synonym | Active | Case sensitive | 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 | Case sensitive | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Spastic paraplegia, optic atrophy, neuropathy syndrome | Associated morphology | Degenerative abnormality | true | Inferred relationship | Some | 1 | |
Spastic paraplegia, optic atrophy, neuropathy syndrome | Clinical course | Progressive | true | Inferred relationship | Some | 4 | |
Spastic paraplegia, optic atrophy, neuropathy syndrome | Is a | SPOAN and SPOAN-related disorder | true | Inferred relationship | Some | ||
Spastic paraplegia, optic atrophy, neuropathy syndrome | Finding site | Structure of lower limb | false | Inferred relationship | Some | 3 | |
Spastic paraplegia, optic atrophy, neuropathy syndrome | Finding site | Optic nerve structure | true | Inferred relationship | Some | 2 | |
Spastic paraplegia, optic atrophy, neuropathy syndrome | Associated morphology | Primary atrophy | true | Inferred relationship | Some | 2 | |
Spastic paraplegia, optic atrophy, neuropathy syndrome | Interprets | Movement | true | Inferred relationship | Some | 5 | |
Spastic paraplegia, optic atrophy, neuropathy syndrome | Finding site | Structure of left lower limb | true | Inferred relationship | Some | 6 | |
Spastic paraplegia, optic atrophy, neuropathy syndrome | Finding site | Structure of right lower limb | true | Inferred relationship | Some | 7 | |
Spastic paraplegia, optic atrophy, neuropathy syndrome | Interprets | Movement observable | true | Inferred relationship | Some | 3 | |
Spastic paraplegia, optic atrophy, neuropathy syndrome | Has interpretation | Absent | true | Inferred relationship | Some | 3 | |
Spastic paraplegia, optic atrophy, neuropathy syndrome | Is a | Hereditary optic atrophy | false | Inferred relationship | Some | ||
Spastic paraplegia, optic atrophy, neuropathy syndrome | Is a | Autosomal recessive hereditary disorder | false | Inferred relationship | Some | ||
Spastic paraplegia, optic atrophy, neuropathy syndrome | Is a | Complicated hereditary spastic paraplegia | false | Inferred relationship | Some | ||
Spastic paraplegia, optic atrophy, neuropathy syndrome | Is a | Hereditary motor and sensory neuropathy | false | Inferred relationship | Some | ||
Spastic paraplegia, optic atrophy, neuropathy syndrome | Is a | Congenital atrophy of optic nerve | false | Inferred relationship | Some | ||
Spastic paraplegia, optic atrophy, neuropathy syndrome | Finding site | Peripheral nervous system structure | false | Inferred relationship | Some | 4 | |
Spastic paraplegia, optic atrophy, neuropathy syndrome | Finding site | Structure of lower limb | false | Inferred relationship | Some | ||
Spastic paraplegia, optic atrophy, neuropathy syndrome | Associated morphology | Degeneration | false | Inferred relationship | Some | 5 | |
Spastic paraplegia, optic atrophy, neuropathy syndrome | Finding site | Spinal cord structure | false | Inferred relationship | Some | 5 | |
Spastic paraplegia, optic atrophy, neuropathy syndrome | Finding site | Cerebellar structure | false | Inferred relationship | Some | 5 | |
Spastic paraplegia, optic atrophy, neuropathy syndrome | Associated morphology | Primary atrophy | false | Inferred relationship | Some | 6 | |
Spastic paraplegia, optic atrophy, neuropathy syndrome | Occurrence | Congenital | false | Inferred relationship | Some | 6 | |
Spastic paraplegia, optic atrophy, neuropathy syndrome | Finding site | Optic nerve structure | false | Inferred relationship | Some | 6 | |
Spastic paraplegia, optic atrophy, neuropathy syndrome | Associated morphology | Degeneration | false | Inferred relationship | Some | 1 | |
Spastic paraplegia, optic atrophy, neuropathy syndrome | Occurrence | Congenital | false | Inferred relationship | Some | 1 | |
Spastic paraplegia, optic atrophy, neuropathy syndrome | Finding site | Spinal cord structure | true | Inferred relationship | Some | 1 | |
Spastic paraplegia, optic atrophy, neuropathy syndrome | Occurrence | Congenital | false | Inferred relationship | Some | 2 | |
Spastic paraplegia, optic atrophy, neuropathy syndrome | 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