Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2020. Module: SNOMED CT core
Descriptions:
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
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. | Is a | True | Congenital coloboma of bilateral optic discs (disorder) | Inferred relationship | Some |
This concept is not in any reference sets