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 |
3498725011 | Spastic paraplegia, nephritis, deafness syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3498726012 | Spastic paraplegia, nephritis, deafness syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
4673148019 | Fitzsimmons Walson Mellor syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
5403732015 | Spastic paraplegia-nephritis-deafness syndrome is a complex form of hereditary spastic paraplegia characterized by progressive, variable spastic paraplegia associated with bilateral sensorineural deafness, intellectual disability, and progressive nephropathy. There have been no further descriptions in the literature since 1988. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
5403733013 | Spastic paraplegia-nephritis-deafness syndrome is a complex form of hereditary spastic paraplegia characterised by progressive, variable spastic paraplegia associated with bilateral sensorineural deafness, intellectual disability, and progressive nephropathy. There have been no further descriptions in the literature since 1988. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Spastic paraplegia, nephritis, deafness syndrome (disorder) | Is a | Autosomal dominant hereditary disorder | false | Inferred relationship | Some | ||
Spastic paraplegia, nephritis, deafness syndrome (disorder) | Is a | Sensorineural hearing loss | false | Inferred relationship | Some | ||
Spastic paraplegia, nephritis, deafness syndrome (disorder) | Is a | Congenital hearing disorder | false | Inferred relationship | Some | ||
Spastic paraplegia, nephritis, deafness syndrome (disorder) | Is a | Complicated hereditary spastic paraplegia | false | Inferred relationship | Some | ||
Spastic paraplegia, nephritis, deafness syndrome (disorder) | Is a | Hearing loss associated with syndrome | true | Inferred relationship | Some | ||
Spastic paraplegia, nephritis, deafness syndrome (disorder) | Is a | Auditory system hereditary disorder | true | Inferred relationship | Some | ||
Spastic paraplegia, nephritis, deafness syndrome (disorder) | Is a | Hereditary nephropathy (disorder) | true | Inferred relationship | Some | ||
Spastic paraplegia, nephritis, deafness syndrome (disorder) | Interprets | Hearing | true | Inferred relationship | Some | 4 | |
Spastic paraplegia, nephritis, deafness syndrome (disorder) | Interprets | Functional observable | false | Inferred relationship | Some | ||
Spastic paraplegia, nephritis, deafness syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 7 | |
Spastic paraplegia, nephritis, deafness syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 9 | |
Spastic paraplegia, nephritis, deafness syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 6 | |
Spastic paraplegia, nephritis, deafness syndrome (disorder) | Finding site | Ear structure | true | Inferred relationship | Some | 6 | |
Spastic paraplegia, nephritis, deafness syndrome (disorder) | Finding site | Kidney structure | true | Inferred relationship | Some | 7 | |
Spastic paraplegia, nephritis, deafness syndrome (disorder) | Finding site | Lower limb structure | false | Inferred relationship | Some | 9 | |
Spastic paraplegia, nephritis, deafness syndrome (disorder) | Associated morphology | Degeneration | false | Inferred relationship | Some | 8 | |
Spastic paraplegia, nephritis, deafness syndrome (disorder) | Finding site | Spinal cord structure | false | Inferred relationship | Some | 8 | |
Spastic paraplegia, nephritis, deafness syndrome (disorder) | Finding site | Cerebellar structure | false | Inferred relationship | Some | 8 | |
Spastic paraplegia, nephritis, deafness syndrome (disorder) | Associated morphology | Degeneration | false | Inferred relationship | Some | 1 | |
Spastic paraplegia, nephritis, deafness syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 1 | |
Spastic paraplegia, nephritis, deafness syndrome (disorder) | Finding site | Spinal cord structure | true | Inferred relationship | Some | 1 | |
Spastic paraplegia, nephritis, deafness syndrome (disorder) | Is a | Congenital sensorineural hearing loss (disorder) | true | Inferred relationship | Some | ||
Spastic paraplegia, nephritis, deafness syndrome (disorder) | Associated morphology | Degenerative abnormality | false | Inferred relationship | Some | 5 | |
Spastic paraplegia, nephritis, deafness syndrome (disorder) | Finding site | Spinal cord structure | false | Inferred relationship | Some | 5 | |
Spastic paraplegia, nephritis, deafness syndrome (disorder) | Is a | Disorder of ear | false | Inferred relationship | Some | ||
Spastic paraplegia, nephritis, deafness syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 5 | |
Spastic paraplegia, nephritis, deafness syndrome (disorder) | Is a | Chronic disease of genitourinary system | true | Inferred relationship | Some | ||
Spastic paraplegia, nephritis, deafness syndrome (disorder) | Is a | Chronic disease of ear | false | Inferred relationship | Some | ||
Spastic paraplegia, nephritis, deafness syndrome (disorder) | Is a | Autosomal dominant hereditary spastic paraplegia | false | Inferred relationship | Some | ||
Spastic paraplegia, nephritis, deafness syndrome (disorder) | Clinical course | Progressive (qualifier value) | true | Inferred relationship | Some | 5 | |
Spastic paraplegia, nephritis, deafness syndrome (disorder) | Associated morphology | Degenerative abnormality | true | Inferred relationship | Some | 1 | |
Spastic paraplegia, nephritis, deafness syndrome (disorder) | Is a | Decreased hearing (finding) | true | Inferred relationship | Some | ||
Spastic paraplegia, nephritis, deafness syndrome (disorder) | Finding site | Lower limb structure | false | Inferred relationship | Some | 2 | |
Spastic paraplegia, nephritis, deafness syndrome (disorder) | Has interpretation | Decreased | true | Inferred relationship | Some | 4 | |
Spastic paraplegia, nephritis, deafness syndrome (disorder) | Interprets | Movement | true | Inferred relationship | Some | 9 | |
Spastic paraplegia, nephritis, deafness syndrome (disorder) | Finding site | Structure of right lower limb (body structure) | true | Inferred relationship | Some | 3 | |
Spastic paraplegia, nephritis, deafness syndrome (disorder) | Finding site | Structure of left lower limb (body structure) | true | Inferred relationship | Some | 8 | |
Spastic paraplegia, nephritis, deafness syndrome (disorder) | Interprets | Movement observable | true | Inferred relationship | Some | 2 | |
Spastic paraplegia, nephritis, deafness syndrome (disorder) | Has interpretation | Absent | true | Inferred relationship | Some | 2 | |
Spastic paraplegia, nephritis, deafness syndrome (disorder) | Is a | Chronic deafness | true | Inferred relationship | Some | ||
Spastic paraplegia, nephritis, deafness syndrome (disorder) | Is a | Autosomal dominant complex hereditary spastic paraplegia (disorder) | true | Inferred relationship | Some |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)