ORPHA:138055
Pierre Robin syndrome associated with bone disease
Synonyms: Pierre Robin sequence associated with bone disease
- Type
- Category
- Group
- Group of disorders
- Status
- active
This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Pierre Robin syndrome associated with bone disease | Pierre Robin sequence associated with bone disease |
| fr | Syndrome de Pierre Robin associée à une maladie osseuse | Séquence de Pierre Robin associée à une maladie osseuse |
| de | Pierre-Robin-Sequenz mit assoziierter Knochenkrankheit | Pierre-Robin-Syndrom - Knochendefekt |
| es | Síndrome de Pierre Robin asociado con enfermedad ósea | Secuencia de Pierre Robin asociada con enfermedad ósea |
| it | Sindrome di Pierre Robin associata a malattia ossea | Sequenza di Pierre Robin associata a malattia ossea |
| nl | Syndroom van Pierre Robin geassocieerd met botziekte | Pierre Robin sequentie geassocieerd met botziekte |
| pt | Sequência de Pierre Robin associada a doença óssea | |
| pl | Zespół Pierre'a Robina związany z chorobą kości | Sekwencja Pierre'a Robina związana z chorobą kości |
| cs | Pierre Robinův syndrom spojený s onemocněním kostí | Pierre Robinova sekvence spojená s onemocněním kostí |
| uk | Синдром Пєра Робена, повязаний із захворюванням кісток | Послідовність Пєра Робена повязана з хворобами кісток |
| zh | 骨病相关Pierre-Robin综合征 | Pierre-Robin序列征相关骨病 |
| tr | Kemik hastalığı ilişkili Pierre Robin sendromu | Kemik hastalığı ile ilişkili Pierre Robin dizisi |
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| UMLS | C5679601 | E | validated | |
| GARD | 19898 | 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 (2):
- ORPHA:363294Genetic syndromic Pierre Robin syndrome
rare genetic diseases - ORPHA:138044Rare disease with Pierre Robin syndrome
rare developmental anomalies during embryogenesis; rare otorhinolaryngological diseases; rare surgical maxillo-facial diseases
4
Genes
0 directOrphanet records no gene directly on this code.
5
Prevalence and incidence
0 recordsNo prevalence record in this release.
6
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/138055
- This record as JSON: /data/d/138055.json