ORPHA:522514
Congenital optic disc excavation of genetic origin
- 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 of genetic origin | |
| fr | Excavation papillaire congénitale d'origine génétique | |
| de | Kongenitale Exkavation der Sehnervenpapille mit genetischer Ursache | |
| es | Excavación congénita del disco óptico de origen genético | |
| it | Escavazione congenita del disco ottico di origine genetica | |
| nl | Congenitale papilexcavatie van genetische oorsprong | |
| pt | Disco óptico com escavação congénita de origem genética | |
| pl | Wrodzone zagłębienie tarczy nerwu wzrokowego uwarunkowane genetycznie | |
| cs | Vrozená geneticky podmíněná exkavace terče zrakového nervu | |
| uk | Вроджена генетично обумовлена екскавація диска зорового нерва | |
| zh | 遗传性先天性视盘凹陷 | |
| tr | Genetik kaynaklı doğumsal optik disk kazısı |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| UMLS | C5681433 | 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:183557Genetic developmental defect of the eye
rare genetic diseases - ORPHA:522512Rare genetic optic nerve disorder
rare genetic diseases
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.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/522514
- This record as JSON: /data/d/522514.json