ORPHA:262812
Partial duplication/triplication of the short arm of chromosome 18 syndrome
Synonyms: Partial duplication/triplication of chromosome 18p · Partial trisomy/tetrasomy of chromosome 18p · Partial trisomy/tetrasomy of the short arm 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.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Partial duplication/triplication of the short arm of chromosome 18 syndrome | Partial duplication/triplication of chromosome 18p · Partial trisomy/tetrasomy of chromosome 18p · Partial trisomy/tetrasomy of the short arm of chromosome 18 |
| fr | Syndrome de duplication/triplication partielle du bras court du chromosome 18 | Duplication/triplication partielle du chromosome 18p · Trisomie/tétrasomie partielle du bras court du chromosome 18 · Trisomie/tétrasomie partielle du chromosome 18p |
| de | Partielle Duplikation/Triplikation des kurzen Arms von Chromosom 18 | Chromosom 18q-Duplikation/Triplikation, partielle · Partielle Duplikation/Triplikation des kurzen Arms von Chromosom 18 |
| es | Síndrome de duplicación/triplicación parcial del brazo corto del cromosoma 18 | Duplicación/triplicación parcial del cromosoma 18p · Trisomía/tetrasomía parcial del brazo corto del cromosoma 18 · Trisomía/tetrasomía parcial del cromosoma 18p |
| it | Sindrome duplicazione/triplicazione parziale del braccio corto del cromosoma 18 | Trisomia/tetrasomia parziale del braccio corto del cromosoma 18 · Duplicazione/triplicazione parziale del cromosoma 18p · Trisomia/tetrasomia parziale del cromosoma 18p |
| nl | Partiële duplicatie/triplicatie van de korte arm van chromosoom 18-syndroom | Partiële duplicatie/triplicatie van chromosoom 18p · Partiële trisomie/tetrasomie van chromosoom 18p · Partiële trisomie/tetrasomie van de korte arm van chromosoom 18 |
| pt | Duplicação/triplicação parcial do braço curto do cromossoma 18 | Duplicação/triplicação parcial do cromossoma 18p · Trissomia/tetrasomia parcial do braço curto do cromossoma 18 · Trissomia/tetrasomia parcial do cromossoma 18p |
| pl | Zespół częściowej duplikacji/triplikacji krótkiego ramienia chromosomu 18 | Częściowa duplikacja/triplikacja chromosomu 18p · Częściowa duplikacja/triplikacja krótkiego ramienia chromosomu 18 · Częściowa trisomia/tetrasomia chromosomu 18p |
| cs | Parciální trizomie/tetrazomie krátkého raménka chromozomu 18 | Parciální duplikace/triplikace 18p · Parciální duplikace/triplikace krátkého raménka chromozomu 18 · Parciální trizomie/tetrazomie 18p |
| uk | Часткова дуплікація/триплікація короткого плеча хромосоми 18 | Часткова дуплікація/триплікація хромосоми 18p · Часткова трисомія/тетрасомія хромосоми 18р · Часткова трисомія/тетрасомія короткого плеча хромосоми 18 |
| zh | 18号染色体短臂部分三体/四体 | 18号染色体短臂部分重复/三体 |
| tr | 18. kromozomun kısa kolunda kısmi trizomi / tetrazomi | 18p kromozomunun kısmi trizomi/tetrazomisi · 18p kromozomunun kısmi duplikasyonu/triplikasyonu · 18. kromozomun kısa kolunun kısmi duplikasyonu/triplikasyonu |
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| MONDO | 0016951 | E | validated | |
| MONDO | 16951 | E | validated | |
| UMLS | C5679715 | 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:262682Partial duplication/triplication of chromosome 18 syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases
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Genes
0 directOrphanet records no gene directly on this code.
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Prevalence and incidence
0 recordsNo prevalence record in this release.
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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/262812
- This record as JSON: /data/d/262812.json