Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2019. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
3758081011 | Ataxia with tapetoretinal degeneration syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3758082016 | Ataxia with tapetoretinal degeneration syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3758083014 | A rare hereditary ataxia with characteristics of simultaneous onset and development of cerebellar ataxia and chorioretinal degeneration (including macular degeneration, advancing choroidal sclerosis, punctata albescens, and retinitis pigmentosa). There have been no further descriptions in the literature since 1963. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
10017291000172119 | syndrome d'ataxie et dégénérescence tapétorétinienne | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | Belgian module (core metadata concept) |
4306801000172113 | ataxie met syndroom van tapetoretinale degeneratie | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | Belgian module (core metadata concept) |
4306811000172111 | ataxie met syndroom van retinitis pigmentosa | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | Belgian module (core metadata concept) |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Ataxia with tapetoretinal degeneration syndrome | Is a | Hereditary disorder of the visual system (disorder) | true | Inferred relationship | Some | ||
Ataxia with tapetoretinal degeneration syndrome | Is a | Hereditary ataxia (disorder) | true | Inferred relationship | Some | ||
Ataxia with tapetoretinal degeneration syndrome | Is a | Cerebellar ataxia | true | Inferred relationship | Some | ||
Ataxia with tapetoretinal degeneration syndrome | Is a | Chorioretinal degeneration | true | Inferred relationship | Some | ||
Ataxia with tapetoretinal degeneration syndrome | Is a | Hereditary disorder of nervous system | false | Inferred relationship | Some | ||
Ataxia with tapetoretinal degeneration syndrome | Finding site | Peripheral retina | true | Inferred relationship | Some | 1 | |
Ataxia with tapetoretinal degeneration syndrome | Finding site | Cerebellar structure | true | Inferred relationship | Some | 3 | |
Ataxia with tapetoretinal degeneration syndrome | Associated morphology | Degeneration | false | Inferred relationship | Some | 2 | |
Ataxia with tapetoretinal degeneration syndrome | Finding site | Retinal structure | false | Inferred relationship | Some | 2 | |
Ataxia with tapetoretinal degeneration syndrome | Associated morphology | Atrophy | true | Inferred relationship | Some | 1 | |
Ataxia with tapetoretinal degeneration syndrome | Finding site | Choroidal structure | true | Inferred relationship | Some | 2 | |
Ataxia with tapetoretinal degeneration syndrome | Is a | Atrophic retina (disorder) | true | Inferred relationship | Some | ||
Ataxia with tapetoretinal degeneration syndrome | Is a | Peripheral retinal degeneration | true | Inferred relationship | Some | ||
Ataxia with tapetoretinal degeneration syndrome | Associated morphology | Degenerative abnormality | true | Inferred relationship | Some | 2 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets