ORPHA:99171
Isolated congenital ectropion
- Type
- Morphological anomaly
- Group
- Disorder
- Status
- active
Isolated congenital ectropion is a rare ocular disease characterized by congenital, unilateral or bilateral, lower or upper eyelid malposition with eversion of the margin due to a vertical shortage of skin, leading to exposure of the conjunctiva and sometimes the cornea. Chronic epiphora and exposure keratitis may be observed in severe cases.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Isolated congenital ectropion | |
| fr | Ectropion congénital isolé | |
| de | Ektropion, isoliertes kongenitales | |
| es | Ectropión congénito aislado | |
| it | Ectropion congenito isolato | |
| nl | Geïsoleerd congenitaal ectropion | |
| pt | Ectropion congénito isolado | |
| pl | Izolowany wrodzony ektropion | |
| cs | Izolované vrozené ektropium | |
| uk | Ізольований вроджений ектропіон | |
| zh | 孤立型先天性眼睑外翻 | |
| tr | İzole doğumsal ektropiyon |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q10.1 | NTBT | specific | validated |
| ICD-11 | LA14.03 | NTBT | specific | validated |
| MONDO | 0020463 | E | validated | |
| UMLS | C5681630 | 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:98570Congenital ectropion
rare developmental anomalies during embryogenesis; rare genetic diseases; rare ophthalmic disorders
No children.
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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/99171
- This record as JSON: /data/d/99171.json