ORPHA:98130
Autosomal trisomy syndrome
Synonyms: Autosomal duplication
- 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 | Autosomal trisomy syndrome | Autosomal duplication |
| fr | Syndrome de trisomies des autosomes | Duplications des autosomes |
| de | Trisomie, autosomale | Autosomale Duplikation |
| es | Síndrome de trisomía autosómica | Duplicación autosómica |
| it | Sindrome trisomia auosomica | Duplicazione autosomica |
| nl | Autosomale trisomie-syndroom | Autosomale duplicatie |
| pt | Trissomia | |
| pl | Zespół trisomii autosomalnej | Duplikacja autosomalna |
| cs | Trizomie autozomů | Duplikace autozomů |
| uk | Аутосомна трисомія | Аутосомна дуплікація |
| zh | 常染色体三体 | 常染色体重复 |
| tr | Otozomal trizomi | Otozomal duplikasyon |
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| UMLS | C0041107 | 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:98127Autosomal anomaly syndrome
rare developmental anomalies during embryogenesis; rare genetic 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/98130
- This record as JSON: /data/d/98130.json