ORPHA:519333
Congenital optic disc excavation
- Type
- Category
- Group
- Group of disorders
- Status
- active
This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Congenital optic disc excavation | |
| fr | Excavation papillaire congénitale | |
| de | Kongenitale Exkavation der Sehnervenpapille | |
| es | Excavación congénita del disco óptico | |
| it | Escavazione congenita del disco ottico | |
| nl | Congenitale papilexcavatie | |
| pt | Disco óptico com escavação congénita | |
| pl | Wrodzone zagłębienie tarczy nerwu wzrokowego | |
| cs | Vrozená exkavace terče zrakového nervu | |
| uk | Вроджена екскавація диска зорового нерва | |
| zh | 先天性视神经盘陷凹 | |
| tr | Doğumsal optik disk çukurluğu |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| MONDO | 0850010 | E | validated | |
| UMLS | C5681348 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:98553Developmental defect of the eye
rare developmental anomalies during embryogenesis - ORPHA:519351Rare optic nerve disorder
rare ophthalmic disorders
4
Genes
0 directOrphanet records no gene directly on this code.
5
Prevalence and incidence
0 recordsNo prevalence record in this release.
6
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/519333
- This record as JSON: /data/d/519333.json