Intraocular medulloepithelioma
Synonyms: Orbital medulloepithelioma
- Type
- Disease
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Childhood
- Status
- active
Intraocular medulloepithelioma is a rare eye tumor characterized by a white, gray or yellow-colored cystic mass that arises from the primitive neuroectodermal, nonpigmented epithelium of the ciliary body, or occasionally from the optic nerve, optic disc, retina or iris. Typically it has a benign clinical course with good prognosis and generally presents with childhood onset of poor vision and pain, glaucoma, and/or cataract. Leukocoria, exotropia, exophthalmos, strabismus, epiphora, change in eye color, hyphema, and raised intraocular pressure are also remarkable manifestations.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Intraocular medulloepithelioma | Orbital medulloepithelioma |
| fr | Médulloépithéliome intraoculaire | Médulloépithéliome orbitaire |
| de | Medulloepitheliom, intraokuläres | Medulloepitheliom, orbitales |
| es | Meduloepitelioma intraocular | Meduloepitelioma orbitario |
| it | Medulloepitelioma intraoculare | Medulloepitelioma orbitale |
| nl | Intraoculair medullo-epithelioom | Orbitaal medullo-epithelioom |
| pt | Meduloepitelioma intraocular | Meduloepitelioma orbital |
| pl | Wewnątrzgałkowy nabłoniak rdzeniakowy | Nabłoniak rdzeniakowy oczodołu |
| cs | Nitrooční meduloepiteliom | Orbitální meduloepiteliom |
| uk | Внутрішньоочна медулоепітеліома | Орбітальна медулоепітеліома |
| zh | 眼内髓上皮瘤 | 眼眶髓上皮瘤 |
| tr | Göz içi medulloepitelyom | Orbital medulloepitelyoma |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | D31.4 | NTBT | attributed | validated |
| MONDO | 0017050 | E | validated | |
| UMLS | C1883694 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:101950Rare eye tumor
rare ophthalmic disorders; rare neoplastic diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| 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.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/268139
- This record as JSON: /data/d/268139.json