ORPHA:674958
Stellate multiform amelanotic choroidopathy
Synonyms: SMACH · Serous maculopathy due to aspecific choroidopathy
- Type
- Disease
- Group
- Disorder
- Inheritance
- Unknown
- Age of onset
- Adult
- Status
- active
Orphadata ships no English definition for this code.
1
Names in Orphadata languages
10 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Stellate multiform amelanotic choroidopathy | SMACH · Serous maculopathy due to aspecific choroidopathy |
| fr | Choroïdopathie amélanotique stellaire multiforme | CASM · Maculopathie séreuse due à une choroïdopathie aspécifique |
| de | Sternförmige multiforme amelanotische Aderhauterkrankung | SMACH · Seröse Makulopathie aufgrund einer unspezifischen Choroidopathie |
| es | Coroidopatía amelanótica multiforme estrellada | Maculopatía serosa por coroidopatía inespecífica · SMACH |
| it | Coroidopatia amelanotica stellata multiforme | MSCA · Maculopatia sierosa da coroidopatia aspecifica |
| nl | Stervormige multiforme amelanotische chorioretinopathie | SMACH · Sereuze maculopathie door aspecifieke choroïdopathie · Stervormige multiforme amelanotische choroïdopathie |
| pt | Coroidopatia amelanótica multiforme estrelada | Maculopatia serosa devido a coroidopatia específica · SMACH |
| pl | Gwiaździsta wielopostaciowa choroidopatia bezbarwnikowa | = en |
| cs | Hvězdicovitá multiformní amelanotická choroidopatie | = en |
| uk | Зірчаста мультиформна амеланотична хоріодопатія | Серозна макулопатія внаслідок специфічної хоріодопатії · SMACH |
2
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 | 0971129 | E | validated | |
| MONDO | 971129 | E | validated | |
| UMLS | C5925082 | 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 (1):
- ORPHA:716213Rare isolated developmental choroidal disorder
rare developmental anomalies during embryogenesis; 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 | 18 cases | Worldwide | Case(s) | Validated | 37127025[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 37127025[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.
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/674958
- This record as JSON: /data/d/674958.json