ORPHA:34533
Corneal dystrophy
- Type
- Category
- Group
- Group of disorders
- Inheritance
- Autosomal dominant, Autosomal recessive, Mitochondrial inheritance, Not applicable, X-linked recessive
- Age of onset
- All ages
- Status
- active
A heterogeneous group of bilateral, genetically determined, non-inflammatory eye diseases that are usually restricted to the cornea. The designation is imprecise but remains in use because of its clinical value.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Corneal dystrophy | |
| fr | Dystrophie cornéenne | |
| de | Hornhautdystrophie | |
| es | Distrofia corneal | |
| it | Distrofia corneale | |
| nl | Corneadystrofie | Hoornvliesdystrofie |
| pt | Distrofia da córnea | |
| pl | Dystrofia rogówki | |
| cs | Dystrofie rohovky | |
| uk | Дистрофія рогівки | |
| zh | 角膜营养不良 | |
| tr | Korneal distrofi |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | H18.5 | E | specific | validated |
| ICD-11 | 9A70 | E | specific | validated |
| MONDO | 0018102 | E | validated | |
| MONDO | 18102 | E | validated | |
| MeSH | D003317 | E | validated | |
| UMLS | C0010036 | E | validated | |
| MedDRA | 10011005 | 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:519288Rare disorder with corneal involvement as a major feature
rare ophthalmic disorders
4
Genes
0 directOrphanet records no gene directly on this code.
5
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | >1 / 1000 | 110 / 100 000 | United States | Value and class | Not yet validated | 21791583[PMID] |
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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/34533
- This record as JSON: /data/d/34533.json