ORPHA:1432
Autosomal dominant chorioretinopathy-microcephaly syndrome
inactive · moved to ORPHA:2526Microcephaly-chorioretinopathy-lymphedema syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Status
- inactive
- Flag
- Deprecated entity
This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Microcephaly-lymphedema-chorioretinopathy syndrome
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Autosomal dominant chorioretinopathy-microcephaly syndrome | |
| fr | Syndrome de choriorétinopathie-microcéphalie autosomique dominante | |
| de | Chorioretinopathie-Mikrozephalie-Syndrom, autosomal-dominantes | |
| es | Síndrome de coriorretinopatía-microcefalia, autosómica dominante | |
| it | Corioretinopatia - microcefalia, autosomica dominante | |
| nl | Autosomaal dominant chorioretinopathie microcefalie-syndroom | |
| pt | Síndrome de coriorretinopatia-microcefalia autossómica dominante | |
| pl | Autosomalna dominująca chorioretinopatia - małogłowie | |
| cs | Syndrom zahrnující autozomálně dominantní chorioretinopatii a mikrocefalii | |
| uk | Аутосомно-домінантний синдром хоріоретинопатії-мікроцефалії | |
| zh | 常染色体显性遗传脉络膜视网膜病变-小头畸形综合征 | |
| tr | Otozomal dominant koriyoretinopati-mikrosefali sendromu |
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| UMLS | C3501946 | 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
Not placed in any Orphanet classification in this release.
No children.
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Genes
0 directOrphanet records no gene directly on this code.
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Prevalence and incidence
0 recordsNo prevalence record in this release.
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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/1432
- This record as JSON: /data/d/1432.json