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 |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Spastic paraplegia, optic atrophy, neuropathy syndrome (disorder) | morphologie associée (attribut) | Degenerative abnormality | true | Inferred relationship | Some | 1 | |
Spastic paraplegia, optic atrophy, neuropathy syndrome (disorder) | évolution clinique (attribut) | progressif | true | Inferred relationship | Some | 4 | |
Spastic paraplegia, optic atrophy, neuropathy syndrome (disorder) | est un(e) (attribut) | SPOAN and SPOAN-related disorder | true | Inferred relationship | Some | ||
Spastic paraplegia, optic atrophy, neuropathy syndrome (disorder) | localisation d'une constatation (attribut) | membre inférieur | true | Inferred relationship | Some | 3 | |
Spastic paraplegia, optic atrophy, neuropathy syndrome (disorder) | localisation d'une constatation (attribut) | Optic nerve structure | true | Inferred relationship | Some | 2 | |
Spastic paraplegia, optic atrophy, neuropathy syndrome (disorder) | morphologie associée (attribut) | Primary atrophy | true | Inferred relationship | Some | 2 | |
Spastic paraplegia, optic atrophy, neuropathy syndrome (disorder) | est un(e) (attribut) | Hereditary optic atrophy | false | Inferred relationship | Some | ||
Spastic paraplegia, optic atrophy, neuropathy syndrome (disorder) | est un(e) (attribut) | Autosomal recessive hereditary disorder | false | Inferred relationship | Some | ||
Spastic paraplegia, optic atrophy, neuropathy syndrome (disorder) | est un(e) (attribut) | Complicated hereditary spastic paraplegia | false | Inferred relationship | Some | ||
Spastic paraplegia, optic atrophy, neuropathy syndrome (disorder) | est un(e) (attribut) | Hereditary motor and sensory neuropathy (disorder) | false | Inferred relationship | Some | ||
Spastic paraplegia, optic atrophy, neuropathy syndrome (disorder) | est un(e) (attribut) | Congenital atrophy of optic nerve (disorder) | false | Inferred relationship | Some | ||
Spastic paraplegia, optic atrophy, neuropathy syndrome (disorder) | localisation d'une constatation (attribut) | structure du système nerveux périphérique | false | Inferred relationship | Some | 4 | |
Spastic paraplegia, optic atrophy, neuropathy syndrome (disorder) | localisation d'une constatation (attribut) | membre inférieur | false | Inferred relationship | Some | ||
Spastic paraplegia, optic atrophy, neuropathy syndrome (disorder) | morphologie associée (attribut) | dégénérescence | false | Inferred relationship | Some | 5 | |
Spastic paraplegia, optic atrophy, neuropathy syndrome (disorder) | localisation d'une constatation (attribut) | moelle spinale (structure corporelle) | false | Inferred relationship | Some | 5 | |
Spastic paraplegia, optic atrophy, neuropathy syndrome (disorder) | localisation d'une constatation (attribut) | structure cérébelleuse | false | Inferred relationship | Some | 5 | |
Spastic paraplegia, optic atrophy, neuropathy syndrome (disorder) | morphologie associée (attribut) | Primary atrophy | false | Inferred relationship | Some | 6 | |
Spastic paraplegia, optic atrophy, neuropathy syndrome (disorder) | survenue (attribut) | congénital | false | Inferred relationship | Some | 6 | |
Spastic paraplegia, optic atrophy, neuropathy syndrome (disorder) | localisation d'une constatation (attribut) | Optic nerve structure | false | Inferred relationship | Some | 6 | |
Spastic paraplegia, optic atrophy, neuropathy syndrome (disorder) | morphologie associée (attribut) | dégénérescence | false | Inferred relationship | Some | 1 | |
Spastic paraplegia, optic atrophy, neuropathy syndrome (disorder) | survenue (attribut) | congénital | false | Inferred relationship | Some | 1 | |
Spastic paraplegia, optic atrophy, neuropathy syndrome (disorder) | localisation d'une constatation (attribut) | moelle spinale (structure corporelle) | true | Inferred relationship | Some | 1 | |
Spastic paraplegia, optic atrophy, neuropathy syndrome (disorder) | survenue (attribut) | congénital | false | Inferred relationship | Some | 2 | |
Spastic paraplegia, optic atrophy, neuropathy syndrome (disorder) | localisation d'une constatation (attribut) | membre inférieur | false | Inferred relationship | Some | 2 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets