ORPHA:98972
Central cloudy dystrophy of François
Synonyms: CCDF · Central cloudy corneal dystrophy of François
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Childhood
- Status
- active
Central cloudy dystrophy of François is a very rare form of stromal corneal dystrophy characterized by polygonal or rounded stromal opacities surrounded by clear tissue, and generally no effect on vision.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Central cloudy dystrophy of François | CCDF · Central cloudy corneal dystrophy of François |
| fr | Dystrophie nuageuse centrale de François | CCDF · Dystrophie cornéenne nuageuse centrale de François |
| de | Zentral-wolkenförmige Dystrophie François | CCDF · Hornhautdystrophie, zentral-wolkenförmige, Typ François |
| es | Distrofia nebulosa central de François | CCDF · Distrofia corneal nebulosa central de François |
| it | Distrofia torbida centrale di François | Distrofia corneale torbida centrale di François · CCDF |
| nl | Centrale troebele dystrofie van François | 'Central cloudy dystrophy' van François · CCDF · Centrale troebele corneadystrofie van François |
| pt | Distrofia corneana, nublada central, tipo Francois | |
| pl | Dystrofia centralnego zmętnienia François | CCDF · Dystrofia centralnego zmętnienia rogówki François |
| cs | Francoisova centrální cloudy dystrofie | CCDF · Centrální Francoisova cloudy dystrofie rohovky |
| uk | Центральна мутна дистрофія Франсуа | CCDF · Центральна мутна дистрофія рогівки Франсуа |
| zh | Franþois角膜中央浑浊性角膜营养不良 | François中心性云翳状角膜营养不良 |
| tr | François santral bulutlu distrofisi | CCDF · François santral bulutlu kornea distrofisi |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 217600 | E | validated | |
| ICD-10 | H18.5 | NTBT | attributed | validated |
| ICD-11 | 9A70.Y | NTBT | index | validated |
| MONDO | 0009018 | E | validated | |
| MeSH | C563262 | E | validated | |
| UMLS | C1622427 | 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 (1):
- ORPHA:98626Stromal corneal dystrophy
rare genetic diseases; rare ophthalmic disorders
No children.
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Genes
0 directOrphanet records no gene directly on this code.
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 24 cases | Worldwide | Case(s) | Validated | 5305046[PMID]_1083619[PMID]_15734014[PMID]_15534129[PMID]_9258229[PMID]_8776559[PMID]_20337272[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | 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/98972
- This record as JSON: /data/d/98972.json