Peripapillary staphyloma
- Type
- Morphological anomaly
- Group
- Disorder
- Inheritance
- Not applicable
- Status
- active
A rare congenital optic disc excavation characterized by deep fundus excavation of chorioretinal atrophy surrounding a relatively normal appearing optic disc. Retinal vasculature is normal, and retinochoroidal coloboma and glial anomalies are absent. Patients present with mostly unilateral markedly reduced visual acuity. Association with other congenital defects or systemic diseases is uncommon.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Peripapillary staphyloma | |
| fr | Staphylome péripapillaire | |
| de | Peripapilläres Staphylom | |
| es | Estafiloma peripapilar | |
| it | Stafiloma peripapillare | |
| nl | Peripapillair stafyloom | |
| pt | Estafiloma peripapilar | |
| pl | Garbiak okołotarczowy | |
| cs | Peripapilární stafylom | |
| uk | Перипапілярна стафілома | |
| zh | 视乳头周围的葡萄肿 | |
| tr | Peripapiller stafilom |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q14.2 | NTBT | attributed | validated |
| ICD-11 | LA13.7Y | NTBT | index | validated |
| MONDO | 0034979 | E | validated | |
| UMLS | C5688490 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:519333Congenital optic disc excavation
rare developmental anomalies during embryogenesis; rare ophthalmic disorders
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
0 recordsNo prevalence record in this release.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/519400
- This record as JSON: /data/d/519400.json