ORPHA:217315
Cutis verticis gyrata-retinitis pigmentosa-sensorineural deafness syndrome
inactive · moved to ORPHA:357225Primary non-essential cutis verticis gyrata
Synonyms: Cutis verticis gyrata-retinitis pigmentosa-neurosensory deafness syndrome · Cutis verticis gyrata-retinitis pigmentosa-neurosensory hearing loss syndrome · Cutis verticis gyrata-retinitis pigmentosa-sensorineural hearing loss 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 Primary non-essential cutis verticis gyrata
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Cutis verticis gyrata-retinitis pigmentosa-sensorineural deafness syndrome | Cutis verticis gyrata-retinitis pigmentosa-neurosensory deafness syndrome · Cutis verticis gyrata-retinitis pigmentosa-neurosensory hearing loss syndrome · Cutis verticis gyrata-retinitis pigmentosa-sensorineural hearing loss syndrome |
| fr | Syndrome de pachydermie plicaturée du cuir chevelu-rétinite pigmentaire-surdité neurosensorielle | Syndrome de pachydermie plicaturée du cuir chevelu-rétinite pigmentaire-surdité de perception · Syndrome de pachydermie vorticellée du cuir chevelu-rétinite pigmentaire-surdité de perception · Syndrome de pachydermie vorticellée du cuir chevelu-rétinite pigmentaire-surdité neurosensorielle |
| de | Cutis verticis gyrata-Retinitis pigmentosa-sensorineurale Schwerhörigkeit-Syndrom | Cutis verticis gyrata - Retinitis pigmentosa - sensorineuraler Hörverlust · Cutis verticis gyrata mit Retinitis pigmentosa und neurosensorischen Hörverlust · Cutis verticis gyrata-Retinitis pigmentosa-Schallempfindungsschwerhörigkeit-Syndrom |
| es | Síndrome de cutis verticis gyrata-retinosis pigmentaria-sordera neurosensorial | Síndrome de cutis verticis gyrata-retinosis pigmentaria-hipoacusia neurosensorial |
| it | Cutis verticis gyrata - retinite pigmentosa - sordità neurosensoriale | Cutis verticis gyrata - retinite pigmentosa - perdita dell'udito neurosensoriale |
| nl | Cutis verticis gyrata - retinitis pigmentosa - sensorineurale doofheid | Cutis verticis gyrata - retinitis pigmentosa - neurosensorisch gehoorverlies · Cutis verticis gyrata - retinitis pigmentosa - neurosensorische doofheid · Cutis verticis gyrata - retinitis pigmentosa - sensorineuraal gehoorverlies |
| pt | Síndrome de cutis verticis gyrata-retinite pigmentosa-surdez neurossensorial | |
| pl | Skóra kręta ciemienia - zwyrodnienie barwnikowe siatkówki - głuchota zmysłowo-nerwowa | Skóra kręta ciemienia - zwyrodnienie barwnikowe siatkówki - głuchota nerwowo-zmysłowa · Skóra kręta ciemienia - zwyrodnienie barwnikowe siatkówki - nerwowo-zmysłowa utrata słuchu · Skóra kręta ciemienia - zwyrodnienie barwnikowe siatkówki - zmysłowo-nerwowa utrata słuchu |
| cs | Syndrom zahrnující cutis verticis gyrata, retinitis pigmentosa a sensorineurální hluchotu | Syndrom zahrnující cutis verticis gyrata, retinitis pigmentosa a neurosenzorickou hluchotu · Syndrom zahrnující cutis verticis gyrata, retinitis pigmentosa a neurosenzorickou ztrátu sluchu · Syndrom zahrnující cutis verticis gyrata, retinitis pigmentosa a sensorineurální ztrátu sluchu |
| uk | Синдром сutis verticis gyrata-пігментного ретиніту-сенсоневральної глухоти | Синдром сutis verticis gyrata - пігментного ретиніту - нейросенсорної глухоти · Cutis verticis gyrata - пігментний ретиніт - нейросенсорна приглухуватість · Cutis verticis gyrata - пігментний ретиніт-сенсоневральна приглухуватість |
| zh | 回状颅皮-视网膜色素变性-感音神经性耳聋综合征 | 回状颅皮-视网膜色素变性-感音神经性耳聋综合征 |
| tr | Cutis verticis gyrata-retinitis pigmentosa-sensorinöral sağırlık sendromu | Cutis verticis gyrata-retinitis pigmentosa-nörosensöri sağırlık sendromu · Cutis verticis gyrata-retinitis pigmentosa-nörosensori işitme kaybı sendromu · Cutis verticis gyrata-retinitis pigmentosa-sensorinöral işitme kaybı sendromu |
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| UMLS | C1854061 | 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/217315
- This record as JSON: /data/d/217315.json