ORPHA:674935
Torpedo Maculopathy
Synonyms: Atypical macular coloboma · Congenital hypomelanotic freckle · Paramacular albinotic spot syndrome · Solitary hypopigmented nevus of the retinal pigment epithelium · TM
- Type
- Disease
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- All ages
- Status
- active
Orphadata ships no English definition for this code.
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Names in Orphadata languages
10 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Torpedo Maculopathy | Atypical macular coloboma · Congenital hypomelanotic freckle · Paramacular albinotic spot syndrome · Solitary hypopigmented nevus of the retinal pigment epithelium · TM |
| fr | Maculopathie en torpille | |
| de | Torpedo-Makulopathie | Atypisches Makulakolobom · Kongenitale hypomelanotische Flecken · Solitärer hypopigmentierter Naevus des retinalen Pigmentepithels · Torpedoförmige Läsion der temporalen Makula |
| es | Maculopatía en torpedo | Nevus hipopigmentado aislado del epitelio pigmentario de la retina · Peca hipomelanótica congénita · Síndrome de la mancha albinótica paramacular · Coloboma macular atípico |
| it | Maculopatia a siluro | Coloboma maculare atipico · Lentiggine ipomelanotica congenita · Nevo ipopigmentato solitario dellepitelio pigmentato della retina · Sindrome della macchia albinotica paramaculare · TM |
| nl | Torpedo-maculopathie | Atypisch maculacoloboom · Congenitale hypomelanotische efelide · Congenitale hypomelanotische sproet · Paramaculaire albinotische vlek-syndroom · Solitaire gehypopigmenteerde naevus van retinaal pigmentepitheel · TM |
| pt | Maculopatia torpedo | Coloboma vascular atípico · Nevus hipopigmentado solitário do epitélio pigmentado da retina · Sarda hipomelanótica congénita · Síndrome de mancha albinótica paramacular · TM |
| pl | Pojedyncze znamię hipopigmentowane nabłonka barwnikowego siatkówki | = en |
| cs | Torpédová makulopatie | = en |
| uk | Торпедоподібна макулопатія | Атипова макулярна колобома · Вроджена гіпомеланотична веснянка · Синдром парамакулярної альбінозної плями · Поодинокий гіпопігментований невус пігментного епітелію сітківки · ТМ |
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | H31.8 | NTBT | attributed | validated |
| ICD-11 | 9B6Y | NTBT | attributed | validated |
| MONDO | 0971125 | E | validated | |
| MONDO | 971125 | E | validated | |
| UMLS | C5891237 | 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:716419Rare isolated non-progressive predominantly macular disorder
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 | 80 cases | Worldwide | Case(s) | Validated | 31686968[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 31686968[PMID]_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/674935
- This record as JSON: /data/d/674935.json