ORPHA:98566
Syndromic eyelid coloboma
Synonyms: Syndromic palpebral coloboma
- 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 | Syndromic eyelid coloboma | Syndromic palpebral coloboma |
| fr | Colobome de la paupière syndromique | Colobome palpébral syndromique |
| de | Kolobom, palpebrales syndromales | |
| es | Coloboma palpebral sindrómico | |
| it | Coloboma palpebrale sindromico | |
| nl | Syndromaal palpebraal coloboom | |
| pt | Coloboma palpebrar sindromático | |
| pl | Syndromiczna szczelina powiek | = en |
| cs | Syndromy s kolobomy víček | = en |
| uk | Синдромальна колобома повік | Синдромальна пальпебральна колобома |
| zh | 综合征性睑缺损 | 综合征性睑缺损 |
| tr | Sendromik göz kapağı kolobomu | Sendromik palpebral kolobom |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| UMLS | C5680328 | 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:98564Eyelid border anomaly
rare developmental anomalies during embryogenesis; rare genetic diseases; rare ophthalmic disorders
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/98566
- This record as JSON: /data/d/98566.json