ORPHA:98959
Subepithelial mucinous corneal dystrophy
Synonyms: SMCD
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Childhood
- Status
- active
Subepithelial mucinous corneal dystrophy (SMCD) is a very rare form of superficial corneal dystrophy characterized by frequent recurrent corneal erosions in the first decade of life, with progressive loss of vision.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Subepithelial mucinous corneal dystrophy | SMCD |
| fr | Dystrophie cornéenne sous-épithéliale mucineuse | = en |
| de | Hornhautdystrophie, muzinöse subepitheliale | = en |
| es | Distrofia corneal mucinosa subepitelial | = en |
| it | Distrofia corneale mucinosa subepiteliale | = en |
| nl | Subepitheliale mucineuze corneadystrofie | SMCD · Subepitheliale mucineuze hoornvliesdystrofie |
| pt | Distrofia corneana, subepitelial mucinosa | |
| pl | Podnabłonkowa mucynowa dystrofia rogówki | = en |
| cs | Subepitelová mucinózní dystrofie rohovky | = en |
| uk | Субепітеліальна муцинозна дистрофія рогівки | = en |
| zh | 上皮下黏液性角膜营养不良 | = en |
| tr | Subepitelyal müsinöz korneal distrofi | = en |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 612867 | E | validated | |
| ICD-10 | H18.5 | NTBT | attributed | validated |
| ICD-11 | 9A70.Y | NTBT | index | validated |
| MONDO | 0013026 | E | validated | |
| MeSH | C567547 | E | validated | |
| UMLS | C2748503 | 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 (2):
- ORPHA:522562Genetic superficial corneal dystrophy
rare genetic diseases - ORPHA:98625Superficial corneal dystrophy
rare ophthalmic disorders
No children.
4
Genes
0 directOrphanet records no gene directly on this code.
5
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 1 families | Worldwide | Family(ies) | Validated | 8352693[PMID]_[EXPERT] | |
| 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.
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/98959
- This record as JSON: /data/d/98959.json