ORPHA:363294
Genetic syndromic Pierre Robin syndrome
- 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.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Genetic syndromic Pierre Robin syndrome | |
| fr | Syndrome de Pierre Robin syndromique d'origine génétique | |
| de | Pierre-Robin-Syndrom, syndromales, genetisch bedingtes | |
| es | Síndrome de Pierre Robin sindrómico de origen genético | |
| it | Sindrome di Pierre Robin sindromica genetica | |
| nl | Genetisch syndromaal syndroom van Pierre Robin | |
| pt | Síndrome de Pierre Robin sindromática genética | |
| pl | Syndromiczny zespół Pierre'a i Robina uwarunkowany genetycznie | |
| cs | Geneticky podmíněný syndromický Pierre Robinův syndrom | |
| uk | Генетично обумовлений синдром Пєра Робена | |
| zh | 遗传性综合征性皮埃尔罗宾综合征 | |
| tr | Genetik sendromik Pierre Robin sendromu |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| MONDO | 18187 | E | validated | |
| UMLS | C5680982 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
Children (6):
- ORPHA:364577Intellectual disability-brachydactyly-Pierre Robin syndrome
- ORPHA:138047Pierre Robin syndrome associated with a chromosomal anomaly
- ORPHA:138055Pierre Robin syndrome associated with bone disease
- ORPHA:138050Pierre Robin syndrome associated with branchial archs anomalies
- ORPHA:138041Pierre Robin syndrome associated with collagen disease
- ORPHA:2886TARP syndrome
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.
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/363294
- This record as JSON: /data/d/363294.json