ORPHA:522538
Rare genetic disorder of the anterior segment of the eye
- 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 | Rare genetic disorder of the anterior segment of the eye | |
| fr | Maladie génétique rare du segment antérieur de l'oeil | |
| de | Seltene genetische Krankheit des vorderen Augensegments | |
| es | Trastorno genético raro del segmento anterior del ojo | |
| it | Malattia genetica rara del segmento anteriore dell'occhio | |
| nl | Zeldzame genetische aandoening van voorste oogsegment | |
| pt | Doença genética rara do segmento anterior do olho | |
| pl | Rzadka choroba przedniego odcinka oka uwarunkowana genetycznie | |
| cs | Vzácná genetická porucha předního segmentu oka | |
| uk | Рідкісне генетично обумовлене захворювання переднього відрізка ока | |
| zh | 罕见眼睛前节遗传性疾病 | |
| tr | Gözün ön segmentinin nadir genetik bozukluğu |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| UMLS | C5681420 | 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 (1):
- ORPHA:522504Rare genetic disorder of the visual organs
rare genetic diseases
Children (6):
- ORPHA:88632Anterior segment developmental anomaly
- ORPHA:522540Anterior segment developmental anomaly of genetic origin
- ORPHA:183607Genetic lens and zonula anomaly
- ORPHA:522556Rare genetic corneal disorder
- ORPHA:522568Rare genetic disorder of the pupil
- ORPHA:522542Rare genetic disorder with conjunctival involvement as a major feature
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/522538
- This record as JSON: /data/d/522538.json