ORPHA:98131
Total autosomal trisomy 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 | Total autosomal trisomy syndrome | |
| fr | Syndrome de trisomies totales des autosomes | |
| de | Trisomie, autosomale komplette | |
| es | Síndrome de trisomía total de autosomas | |
| it | Sindrome trisomia autosomica totale | |
| nl | Volledige autosomale trisomie-syndroom | |
| pt | Trissomia total autossómica | |
| pl | Zespół całkowitej trisomii autosomalnej | |
| cs | Trizomie celých autozomů | |
| uk | Повна аутосомна трисомія | |
| zh | 全部常染色体三体 | |
| tr | Toplam otozomal trizomi |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| UMLS | C5681498 | 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):
- ORPHA:98130Autosomal trisomy syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases
Children (19):
- ORPHA:870Down syndrome
- ORPHA:1692Mosaic trisomy 1 syndrome
- ORPHA:96063Mosaic trisomy 10 syndrome
- ORPHA:1698Mosaic trisomy 12 syndrome
- ORPHA:1703Mosaic trisomy 14 syndrome
- ORPHA:1706Mosaic trisomy 15 syndrome
- ORPHA:1708Mosaic trisomy 16 syndrome
- ORPHA:1711Mosaic trisomy 17 syndrome
- ORPHA:1723Mosaic trisomy 2 syndrome
- ORPHA:1724Mosaic trisomy 20 syndrome
- ORPHA:96068Mosaic trisomy 22 syndrome
- ORPHA:100071Mosaic trisomy 3 syndrome
- ORPHA:96059Mosaic trisomy 4 syndrome
- ORPHA:96060Mosaic trisomy 5 syndrome
- ORPHA:1747Mosaic trisomy 7 syndrome
- ORPHA:96061Mosaic trisomy 8 syndrome
- ORPHA:99776Mosaic trisomy 9 syndrome
- ORPHA:3378Trisomy 13 syndrome
- ORPHA:3380Trisomy 18 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.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/98131
- This record as JSON: /data/d/98131.json