ORPHA:522504
Rare genetic disorder of the visual organs
- 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 genetic disorder of the visual organs | |
| fr | Maladie génétique rare des organes visuels | |
| de | Seltene genetische Krankheit des Sehorgans | |
| es | Trastorno genético raro de los órganos visuales | |
| it | Malattia genetica rara dell'organo della vista | |
| nl | Zeldzame genetische aandoening van visuele organen | |
| pt | Doença genética rara dos orgão visuais | |
| pl | Rzadka choroba genetyczna narządu wzroku | |
| cs | Vzácná genetická porucha zrakových orgánů | |
| uk | Рідкісне генетично обумовлене захворювання органів зору | |
| zh | 罕见的视觉器官遗传性疾病 | |
| tr | Görme organlarının nadir genetik bozukluğu |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| UMLS | C5681439 | 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 (1):
- ORPHA:101435Rare genetic eye disease
rare genetic diseases
Children (8):
- ORPHA:379Chronic granulomatous disease
- ORPHA:183616Genetic neuro-ophthalmological disease
- ORPHA:519296Rare disorder with pigmented sclera
- ORPHA:522578Rare genetic disorder involving multiple structures of the eye
- ORPHA:522538Rare genetic disorder of the anterior segment of the eye
- ORPHA:522524Rare genetic disorder of the ocular adnexa
- ORPHA:522570Rare genetic disorder of the posterior segment of the eye
- ORPHA:522536Structural developmental eye defect of genetic origin
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/522504
- This record as JSON: /data/d/522504.json