ORPHA:522528
Rare genetic eyelid malposition disorder
- 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 eyelid malposition disorder | |
| fr | Maladie génétique rare de malposition de la paupière | |
| de | Seltene genetische Lid-Fehlstellungen | |
| es | Trastorno de malposición palpebral genético raro | |
| it | Malattia genetica rara con malposizione delle palpebre | |
| nl | Zeldzame genetische malpositie van ooglid | |
| pt | Doença genética rara com malposição da pálpebra | |
| pl | Rzadka choroba nieprawidłowego ułożenia powieki uwarunkowana genetycznie | |
| cs | Vzácná genetická porucha malpozice očního víčka | |
| uk | Рідкісне генетично обумовлене порушення розташування повік | |
| zh | 罕见遗传性眼睑错位症 | |
| tr | Nadir genetik göz kapağı malpozisyon bozukluğu |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| UMLS | C5681427 | 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:522526Rare genetic palpebral disorder
rare genetic diseases
Children (9):
- ORPHA:1253Ascher syndrome
- ORPHA:99169Epiblepharon
- ORPHA:99172Euryblepharon
- ORPHA:519268Rare disorder with ectropion
- ORPHA:98578Rare disorder with ptosis
- ORPHA:522530Rare genetic disorder with entropion
- ORPHA:98574Syndromic epicanthus
- ORPHA:98576Syndromic outer canthal malposition
- ORPHA:98575Syndromic telecanthus
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/522528
- This record as JSON: /data/d/522528.json