ORPHA:99176
Congenital eyelid retraction
- Type
- Morphological anomaly
- Group
- Disorder
- Status
- active
Congenital eyelid retraction is a very rare kinetic eyelid anomaly that can affect the upper or lower eyelid, presents at birth, that in some cases can result in corneal exposure, and that may be associated with accessory levator muscle slips.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Congenital eyelid retraction | |
| fr | Rétraction congénitale des paupières | |
| de | Augenlidretraktion, kongenitale | |
| es | Retracción palpebral congénita | |
| it | Retrazione palpebrale congenita | |
| nl | Congenitale ooglidretractie | |
| pt | Retração congénita da pálpebra | |
| pl | Wrodzona retrakcja powiek | |
| cs | Vrozená retrakce očních víček | |
| uk | Вроджене втягування повік | |
| zh | 先天性眼睑回缩 | |
| tr | Doğumsal göz kapağı retraksiyonu |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q10.3 | NTBT | attributed | validated |
| ICD-11 | LA14.05 | E | specific | validated |
| MONDO | 0020465 | E | validated | |
| UMLS | C4274470 | 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:98561Congenital malformation of the eyelid
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.
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Prevalence and incidence
0 recordsNo prevalence record in this release.
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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/99176
- This record as JSON: /data/d/99176.json