ORPHA:138050
Pierre Robin syndrome associated with branchial archs anomalies
Synonyms: Pierre Robin sequence associated with branchial archs anomalies
- 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 branchial archs anomalies | Pierre Robin sequence associated with branchial archs anomalies |
| fr | Syndrome de Pierre Robin associée à une anomalie des arcs branchiaux | Séquence de Pierre Robin associée à une anomalie des arcs branchiaux |
| de | Pierre-Robin-Sequenz mit assoziierter Kiemenbogen-Fehlbildung | Pierre-Robin-Syndrom - Kiemenbogendefekt |
| es | Síndrome de Pierre Robin asociado con anomalías de los arcos branquiales | Secuencia de Pierre Robin asociada con anomalías de los arcos branquiales |
| it | Sindrome di Pierre Robin associata a anomalie degli archi branchiali | Sequenza di Pierre Robin associata a anomalie degli archi branchiali |
| nl | Syndroom van Pierre Robin geassocieerd met kieuwbooganomalieën | Pierre Robin sequentie geassocieerd met kieuwbooganomalieën |
| pt | Sequência de Pierre Robin associada a anomalia dos arcos branquiais | |
| pl | Zespół Pierre'a Robina związany z anomaliami łuków skrzelowych | Sekwencja Pierre'a Robina związana z anomaliami łuków skrzelowych |
| cs | Pierre Robinův syndrom spojený s anomáliemi branchiálních oblouků | Pierre Robinova sekvence spojená s anomáliemi branchiálních oblouků |
| uk | Синдром Пєра Робена, повязаний з аномаліями бранхіальних гілок | Послідовність Пєра Робена повязана з аномаліями гілкових дуг |
| zh | 鳃弓异常相关Pierre-Robin综合征 | Pierre-Robin序列征相关鳃弓畸形 |
| tr | Brankial ark anomalileri ilişkili Pierre Robin sendromu | Branşel kemer anomalileri ile ilişkili Pierre Robin dizisi |
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| UMLS | C5679602 | E | validated | |
| GARD | 19897 | 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
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Genes
0 directOrphanet records no gene directly on this code.
5
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/138050
- This record as JSON: /data/d/138050.json