ORPHA:98975
Congenital hereditary endothelial dystrophy type I
inactive · moved to ORPHA:98973Posterior polymorphous corneal dystrophy
Synonyms: Autosomal dominant CHED · Autosomal dominant congenital hereditary endothelial dystrophy · CHED1 · CHEDI · Congenital hereditary endothelial dystrophy type 1
- Type
- Disease
- Group
- Disorder
- Status
- inactive
- Flag
- Deprecated entity
This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Posterior polymorphous corneal dystrophy
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Congenital hereditary endothelial dystrophy type I | Autosomal dominant CHED · Autosomal dominant congenital hereditary endothelial dystrophy · CHED1 · CHEDI · Congenital hereditary endothelial dystrophy type 1 |
| fr | Dystrophie endothéliale congénitale héréditaire type I | CHED autosomique dominante · CHED1 · CHEDI · Dystrophie endothéliale congénitale héréditaire autosomique dominante · Dystrophie endothéliale congénitale héréditaire type 1 |
| de | Endotheldystrophie, hereditäre kongenitale 1 | CHED1 · CHEDI · Endotheldystrophie, hereditäre kongenitale I |
| es | Distrofia endotelial hereditaria congénita I | CHED autosómica dominante · CHED1 · CHEDI · Distrofia endotelial hereditaria congénita 1 · Distrofia endotelial hereditaria congénita autosómica dominante |
| it | Distrofia endoteliale ereditaria congenita I | CHED autosomica dominante · CHED1 · CHEDI · Distrofia endoteliale ereditaria congenita 1 · Distrofia endoteliale ereditaria congenita autosomica dominante |
| nl | Congenitale hereditaire endotheliale dystrofie I | Autosomaal dominante CHED · Autosomaal dominante congenitale erfelijke endotheliale dystrofie · CHED1 · CHEDI · Congenitale erfelijke endotheliale dystrofie 1 |
| pt | Distrofia endotelial congénita, hereditária | |
| pl | Wrodzona dziedziczna dystrofia śródbłonka typu I | Autosomalna dominująca CHED · Autosomalna dominująca wrodzona dziedziczna dystrofia śródbłonka typu I · CHED1 · CHEDI · Wrodzona dziedziczna dystrofia śródbłonka typu I 1 |
| cs | Vrozená hereditární endotelová dystrofie rohovky, typ I | CHED1 · CHEDI · Vrozená hereditární endotelová dystrofie, typ 1 · Autozomálně dominantní CHED · Vrozená hereditární endotelová dystrofie s autozomálně dominantní dědičností |
| uk | Вроджена спадкова ендотеліальна дистрофія, тип I | Аутосомно-домінантна CHED · Аутосомно-домінантна вроджена спадкова ендотеліальна дистрофія · CHED1 · CHEDІ · Вроджена спадкова ендотеліальна дистрофія типу 1 |
| zh | 先天性遗传性内皮细胞营养不良I型 | 常染色体显性遗传性先天性内皮细胞营养不良 |
| tr | Doğumsal kalıtsal endotelyal distrofi tip I | CHED1 · CHEDI · Otozomal dominant CHED · Doğumsal kalıtsal endotelyal distrofi tip 1 · Otozomal dominant Doğumsal herediter endotelyal distrofi |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 122000 | E | validated | |
| MONDO | 0020365 | E | validated | |
| UMLS | C1562945 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Not placed in any Orphanet classification in this release.
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/98975
- This record as JSON: /data/d/98975.json