Status: current, Primitive. Date: 31-Jul 2017. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
3434964012 | Helicoid peripapillary chorioretinal degeneration (disorder) | en | Fully specified name | Active | Case insensitive | SNOMED CT core |
3434965013 | Helicoid peripapillary chorioretinal degeneration | en | Synonym | Active | Case insensitive | SNOMED CT core |
3434966014 | Atrophia areata | en | Synonym | Active | Case insensitive | SNOMED CT core |
3434967017 | Sveinsson chorioretinal atrophy | en | Synonym | Active | Case sensitive | SNOMED CT core |
3434968010 | A rare autosomal dominant inherited chorioretinal degenerative disease presenting at birth or during infancy. The disease has characteristics of progressive bilateral retinal and choroidal atrophy which appears as lesions on the optic nerve and peripheral ocular fundus and leads to loss of central vision. Congenital anterior polar cataracts are sometimes associated with this disease. There is evidence this disease is caused by heterozygous mutation in the TEA domain family member-1 gene (TEAD1) on chromosome 11p15. | en | Definition | Active | Case sensitive | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Helicoid peripapillary chorioretinal degeneration | Is a | Peripapillary atrophy | true | Inferred relationship | Some | ||
Helicoid peripapillary chorioretinal degeneration | Is a | Autosomal dominant hereditary disorder | true | Inferred relationship | Some | ||
Helicoid peripapillary chorioretinal degeneration | Is a | Chorioretinal atrophy | true | Inferred relationship | Some | ||
Helicoid peripapillary chorioretinal degeneration | Is a | Hereditary disorder of the visual system | true | Inferred relationship | Some | ||
Helicoid peripapillary chorioretinal degeneration | Associated morphology | Atrophy | true | Inferred relationship | Some | 2 | |
Helicoid peripapillary chorioretinal degeneration | Associated morphology | Atrophy | true | Inferred relationship | Some | 3 | |
Helicoid peripapillary chorioretinal degeneration | Finding site | Peripapillary retina | true | Inferred relationship | Some | 2 | |
Helicoid peripapillary chorioretinal degeneration | Finding site | Peripapillary choroid | true | Inferred relationship | Some | 3 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Australian emergency department reference set
Clinical finding foundation reference set
Problem/Diagnosis reference set
Description inactivation indicator reference set