ORPHA:262682
Partial duplication/triplication of chromosome 18 syndrome
Synonyms: Partial trisomy/tetrasomy of chromosome 18
- 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 | Partial duplication/triplication of chromosome 18 syndrome | Partial trisomy/tetrasomy of chromosome 18 |
| fr | Syndrome de duplication/triplication partielle du chromosome 18 | Trisomie/tétrasomie partielle du chromosome 18 |
| de | Partielle Trisomie/Tetrasomie von Chromosom 18 | Chromosom 18-Duplikation, partielle |
| es | Síndrome de duplicación/triplicación parcial del cromosoma 18 | Trisomía/tetrasomía parcial del cromosoma 18 |
| it | Sindrome duplicazione/triplicazione parziale del cromosoma 18 | Trisomia/tetrasomia parziale del cromosoma 18 |
| nl | Partiële duplicatie/triplicatie van chromosoom 18-syndroom | Partiële trisomie/tetrasomie van chromosoom 18 |
| pt | Duplicação/triplicação parcial do cromossoma 18 | Trissomia/tetrasomia parcial do cromossoma 18 |
| pl | Zespół częściowej duplikacji/triplikacji chromosomu 18 | Częściowa duplikacja/triplikacja chromosomu 18 |
| cs | Parciální trizomie/tetrazomie chromozomu 18 | Parciální duplikace/triplikace chromozomu 18 |
| uk | Часткова дуплікація/триплікація хромосоми 18 | Часткова трисомія/тетрасомія хромосоми 18 |
| zh | 18号染色体部分三体/四体 | 18号染色体部分重复/三体 |
| tr | 18. kromozomun kısmi trizomisi / tetrazomisi | Kromozom 18'in kısmi duplikasyonu/triplikasyonu |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| MONDO | 0016936 | E | validated | |
| MONDO | 16936 | E | validated | |
| UMLS | C5816684 | 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:98132Partial autosomal duplication/triplication 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/262682
- This record as JSON: /data/d/262682.json