ORPHA:519386
Isolated congenital entropion
- Type
- Morphological anomaly
- Group
- Disorder
- Inheritance
- Not applicable
- Status
- active
A rare eyelid malposition disorder characterized by congenital abnormal inversion of the eyelid towards the globe, potentially causing mechanical irritation of the ocular surface by the eyelashes, which may lead to corneal abrasion and scarring with visual impairment. Typical initial symptoms are foreign body sensation, redness, tearing, and ocular discharge.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Isolated congenital entropion | |
| fr | Entropion congénital isolé | |
| de | Isoliertes kongenitales Entropion | |
| es | Entropión congénito aislado | |
| it | Entropion congenito isolato | |
| nl | Geïsoleerd congenitaal entropion | |
| pt | Entropion congénito isolado | |
| pl | Izolowane wrodzone wywinięcie do wewnątrz (entropion) powieki | |
| cs | Izolované vrozené entropium | |
| uk | Ізольований вроджений ентропіон | |
| zh | 孤立性先天性睑内翻 | |
| tr | İzole doğumsal entropiyon |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q10.2 | E | specific | validated |
| ICD-11 | LA14.02 | E | specific | validated |
| MONDO | 0034971 | E | validated | |
| UMLS | C0266579 | E | validated | |
| MedDRA | 10014923 | 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:519270Rare disorder with entropion
rare developmental anomalies during embryogenesis; rare ophthalmic disorders
No children.
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/519386
- This record as JSON: /data/d/519386.json