ORPHA:138044
Rare disease with 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.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Rare disease with Pierre Robin syndrome | |
| fr | Maladie rare avec syndrome de Pierre Robin | |
| de | Seltene Krankheit mit Pierre Robin-Syndrom | Pierre-Robin-Syndrom, syndromales |
| es | Enfermedad rara con síndrome de Pierre Robin | |
| it | Malattia rara con sindrome di Pierre Robin | |
| nl | Zeldzame ziekte met syndroom van Pierre Robin | |
| pt | Sequência de Pierre Robin, sindrómica | |
| pl | Rzadka choroba z zespołem Pierre'a Robina | |
| cs | Vzácná onemocnění s Pierre Robinovým syndromem | |
| uk | Рідкісне захворювання з синдромом Пєра Робена | |
| zh | 伴皮埃尔-罗宾综合征的罕见病 | |
| tr | Pierre Robin sendromu ile seyreden nadir hastalık |
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| MONDO | 15319 | E | validated | |
| UMLS | C5680627 | E | validated | |
| GARD | 19895 | 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 (1):
- ORPHA:156237Syndrome or malformation associated with head and neck malformations
rare developmental anomalies during embryogenesis; rare otorhinolaryngological diseases; rare surgical maxillo-facial diseases
Children (7):
- 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
- ORPHA:138059Teratogenic Pierre Robin syndrome
Codes that Orphanet moved or referred to this one:
- ORPHA:138063OBSOLETE: Syndrome associated with Pierre Robin syndrome referred to · inactive
- ORPHA:138066OBSOLETE: Pierre Robin syndrome associated with miscellaneous anomalies referred to · inactive
4
Genes
0 directOrphanet records no gene directly on this code.
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Prevalence at birth | Unknown | — | Worldwide | Class only | Not yet validated | 24433508[PMID] |
| Point prevalence | Unknown | — | Europe | Class only | Not yet validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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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/138044
- This record as JSON: /data/d/138044.json