ORPHA:522562
Genetic superficial corneal dystrophy
- 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 | Genetic superficial corneal dystrophy | |
| fr | Dystrophie cornéenne superficielle génétique | |
| de | Genetisch bedingte superfizielle Hornhautdystrophie | |
| es | Distrofia corneal superficial genética | |
| it | Distrofia corneale superficiale genetica | |
| nl | Genetische oppervlakkige corneadystrofie | |
| pt | Distrofia superfical da córnea genética | |
| pl | Dystrofia powierzchowna rogówki uwarunkowana genetycznie | |
| cs | Genetická povrchová dystrofie rohovky | |
| uk | Генетично обумовлена поверхнева дистрофія рогівки | |
| zh | 遗传性表层性角膜营养不良 | |
| tr | Genetik yüzeysel korneal distrofi |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| UMLS | C5681412 | 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:522560Genetic corneal dystrophy
rare genetic diseases
Children (11):
- ORPHA:352662Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome
- ORPHA:98956Epithelial basement membrane dystrophy
- ORPHA:293381Epithelial recurrent erosion dystrophy
- ORPHA:98957Gelatinous drop-like corneal dystrophy
- ORPHA:293375Grayson-Wilbrandt corneal dystrophy
- ORPHA:352657Hereditary benign intraepithelial dyskeratosis
- ORPHA:98955Lisch epithelial corneal dystrophy
- ORPHA:98954Meesmann corneal dystrophy
- ORPHA:98961Reis-Bücklers corneal dystrophy
- ORPHA:98959Subepithelial mucinous corneal dystrophy
- ORPHA:98960Thiel-Behnke corneal dystrophy
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/522562
- This record as JSON: /data/d/522562.json