Jump to:
loading...| Preferred Name |
Coloboma of optic disc |
| ID |
http://www.orpha.net/ORDO/Orphanet_98947 |
| alternative_term |
Coloboma of optic papilla |
| definition |
Coloboma of optic disc is a rare, genetic, developmental defect of the eye characterized by a unilateral or bilateral, sharply demarcated, bowl-shaped, glistening white excavation on the optic disc (typically decentered inferiorly) which usually manifests with varying degrees of reduced visual acuity. It can occur isolated or may associate other ocular (e.g. retinal detachment, retinoschisis-like separation) or systemic anomalies (e.g. renal). |
| definition_citation |
Orphanet |
| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98947 |
| hasDbXref |
ICD-10:Q14.2 ICD-11:LA13.76 |
| label |
Coloboma of optic disc |
| notation |
ORPHA:98947 |
| part_of | |
| prefixIRI |
ORDO:Orphanet_98947 |
| prefLabel |
Coloboma of optic disc |
| treeView | |
| subClassOf |
Create New Mapping