ORPHA:163673
Spondyloepiphyseal dysplasia, Byers type
inactive · moved to ORPHA:93284Spondyloepiphyseal dysplasia tarda
Synonyms: Spondyloepiphyseal dysplasia-punctate corneal dystrophy syndrome
- Type
- Disease
- Group
- Disorder
- Status
- inactive
- Flag
- Deprecated entity
This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Spondyloepiphyseal dysplasia tarda
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Spondyloepiphyseal dysplasia, Byers type | Spondyloepiphyseal dysplasia-punctate corneal dystrophy syndrome |
| fr | Dysplasie spondylo-épiphysaire type Byers | Syndrome de dysplasie spondylo-épiphysaire-dystrophie cornéenne ponctuée |
| de | Dysplasie, spondyloepiphysäre, Typ Byers | |
| es | Displasia espondiloepifisaria tipo Byers | Displasia espondiloepifisaria-distrofia corneal punteada · Displasia espondiloepifisiaria-distrofia puntiforme de la córnea |
| it | Displasia spondiloepifisaria, tipo Byers | |
| nl | Spondylo-epifysaire dysplasie, Byers-type | Spondylo-epifysaire dysplasie - puntvormige corneadystrofie-syndroom |
| pt | Displasia espondiloepifisária, tipo Byers | |
| pl | Dysplazja kręgowo-nasadowa, typ Byersa | Dysplazja kręgowo-nasadowa - punktowa dystrofia rogówki |
| cs | Spondyloepifyzární dysplázie, Byersův typ | Syndrom zahrnující spondyloepifyzární dysplázii a dystrophia corneae punctata |
| uk | Спондилоепіфізарна дисплазія, тип Байєрса | Синдром спондилоепіфізарної дисплазії - точкової дистрофії рогівки |
| zh | Byers 型脊柱骨骺发育不良 | 脊柱骨骺发育不良-点状角膜营养不良综合征 |
| tr | Spondiloepifizyal displazi, Byers tipi | Spondiloepifizeal displazi-punktata korneal distrofi sendromu |
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 183850 | E | validated | |
| UMLS | C1866727 | 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/163673
- This record as JSON: /data/d/163673.json