ORPHA:98626
Stromal corneal dystrophy
- Type
- Category
- Group
- Group of disorders
- Inheritance
- Autosomal dominant, Autosomal recessive
- Age of onset
- All ages
- Status
- active
The stromal corneal dystrophies refer to a group of rare genetically determined corneal dystrophies (CDs) characterized by lesions affecting the corneal stroma, and variable effects on vision depending on the type of dystrophy.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Stromal corneal dystrophy | |
| fr | Dystrophie cornéenne stromale | |
| de | Hornhautdystrophie, stromale | Stroma-Hornhautdystrophie, kongenitale |
| es | Distrofia corneal estromal | |
| it | Distrofia corneale stromale | |
| nl | Stromale corneadystrofie | Stromale hoornvliesdystrofie |
| pt | Distrofia do estroma da córnea | |
| pl | Dystrofia stromalna rogówki | |
| cs | Stromální dystrofie rohovky | |
| uk | Стромальна дистрофія рогівки | |
| zh | 基质角膜营养不良 | |
| tr | Stromal kornea distrofisi |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| MONDO | 0020213 | E | validated | |
| UMLS | C0038457 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:34533Corneal dystrophy
rare ophthalmic disorders - ORPHA:522560Genetic corneal dystrophy
rare genetic diseases
Children (10):
- ORPHA:98972Central cloudy dystrophy of François
- ORPHA:101068Congenital stromal corneal dystrophy
- ORPHA:98970Fleck corneal dystrophy
- ORPHA:98962Granular corneal dystrophy type I
- ORPHA:98963Granular corneal dystrophy type II
- ORPHA:98964Lattice corneal dystrophy type I
- ORPHA:98969Macular corneal dystrophy
- ORPHA:98971Posterior amorphous corneal dystrophy
- ORPHA:293462Pre-Descemet corneal dystrophy
- ORPHA:98967Schnyder corneal dystrophy
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Genes
0 directOrphanet records no gene directly on this code.
5
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | 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.
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HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/98626
- This record as JSON: /data/d/98626.json