ORPHA:519345
Rare disorder with optic disc malformation
- 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.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Rare disorder with optic disc malformation | |
| fr | Maladie rare avec malformation de la papille optique | |
| de | Seltene Erkrankung mit Fehlbildung der Sehnervenpapille | |
| es | Trastorno raro con malformación del disco óptico | |
| it | Malattia rara con malformazione del disco ottico | |
| nl | Zeldzame aandoening met malformatie van papil | |
| pt | Doença rara com malformação do disco óptico | |
| pl | Choroba rzadka z malformacją tarczy nerwu wzrokowego | |
| cs | Vzácná porucha s malformací terče zrakového nervu | |
| uk | Рідкісний розлад з аномалією диска зорового нерва | |
| zh | 伴有视神经盘畸形的罕见眼科疾病 | |
| tr | Optik disk malformasyonu ile seyreden nadir bozukluk |
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| UMLS | C5681361 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (4):
- ORPHA:98553Developmental defect of the eye
rare developmental anomalies during embryogenesis - ORPHA:183557Genetic developmental defect of the eye
rare genetic diseases - ORPHA:522512Rare genetic optic nerve disorder
rare genetic diseases - ORPHA:519351Rare optic nerve disorder
rare ophthalmic disorders
Codes that Orphanet moved or referred to this one:
- ORPHA:519357OBSOLETE: Syndromic malformation of the optic disc referred to · inactive
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/519345
- This record as JSON: /data/d/519345.json