Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 28-Feb 2022. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
4695980014 | Colobomatous optic disc, macular atrophy, chorioretinopathy syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
4695981013 | Colobomatous optic disc, macular atrophy, chorioretinopathy syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
5399720011 | A rare genetic eye disease characterized by optic disc anomalies (bilateral colobomatous optic discs, retinal vessels arising from the peripheral optic disc) and macular atrophy. Peripapillary chorioretinal atrophy and chorioretinal and iris coloboma have also been described. Patients present with horizontal nystagmus and poor visual acuity. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
5399721010 | A rare genetic eye disease characterised by optic disc anomalies (bilateral colobomatous optic discs, retinal vessels arising from the peripheral optic disc) and macular atrophy. Peripapillary chorioretinal atrophy and chorioretinal and iris coloboma have also been described. Patients present with horizontal nystagmus and poor visual acuity. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Colobomatous optic disc, macular atrophy, chorioretinopathy syndrome | Is a | Congenital coloboma of bilateral optic discs (disorder) | true | Inferred relationship | Some | ||
Colobomatous optic disc, macular atrophy, chorioretinopathy syndrome | Is a | Inherited optic neuropathy | true | Inferred relationship | Some | ||
Colobomatous optic disc, macular atrophy, chorioretinopathy syndrome | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
Colobomatous optic disc, macular atrophy, chorioretinopathy syndrome | Is a | Atrophy of macula lutea | true | Inferred relationship | Some | ||
Colobomatous optic disc, macular atrophy, chorioretinopathy syndrome | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
Colobomatous optic disc, macular atrophy, chorioretinopathy syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
Colobomatous optic disc, macular atrophy, chorioretinopathy syndrome | Finding site | Structure of left optic disc (body structure) | true | Inferred relationship | Some | 2 | |
Colobomatous optic disc, macular atrophy, chorioretinopathy syndrome | Associated morphology | Developmental failure of fusion (morphologic abnormality) | true | Inferred relationship | Some | 2 | |
Colobomatous optic disc, macular atrophy, chorioretinopathy syndrome | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
Colobomatous optic disc, macular atrophy, chorioretinopathy syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 3 | |
Colobomatous optic disc, macular atrophy, chorioretinopathy syndrome | Finding site | Structure of right optic disc (body structure) | true | Inferred relationship | Some | 3 | |
Colobomatous optic disc, macular atrophy, chorioretinopathy syndrome | Associated morphology | Developmental failure of fusion (morphologic abnormality) | true | Inferred relationship | Some | 3 | |
Colobomatous optic disc, macular atrophy, chorioretinopathy syndrome | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 3 | |
Colobomatous optic disc, macular atrophy, chorioretinopathy syndrome | Finding site | Macula lutea structure | true | Inferred relationship | Some | 1 | |
Colobomatous optic disc, macular atrophy, chorioretinopathy syndrome | Associated morphology | Atrophy | true | Inferred relationship | Some | 1 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)