ORPHA:447985
Partial duplication of the short arm of chromosome 19 syndrome
Synonyms: Partial duplication of chromosome 19p · Partial trisomy of chromosome 19p · Partial trisomy of the short arm of chromosome 19
- 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 of the short arm of chromosome 19 syndrome | Partial duplication of chromosome 19p · Partial trisomy of chromosome 19p · Partial trisomy of the short arm of chromosome 19 |
| fr | Syndrome de duplication partielle du bras court du chromosome 19 | Duplication partielle du chromosome 19p · Trisomie partielle du bras court du chromosome 19 · Trisomie partielle du chromosome 19p |
| de | Chromosom 19, partielle Duplikation des kurzen Arms | Chromosom 19p-Duplikation, partielle · Partielle Trisomie des Chromosoms 19p |
| es | Síndrome de duplicación parcial del brazo corto del cromosoma 19 | Duplicación parcial del cromosoma 19p · Trisomía parcial del brazo corto del cromosoma 19 · Trisomía parcial del cromosoma 19p |
| it | Sindrome duplicazione parziale del braccio corto del cromosoma 19 | Duplicazione parziale del cromosoma 19p · Trisomia parziale del braccio corto del cromosoma 19 · Trisomia parziale del cromosoma 19p |
| nl | Partiële duplicatie van de korte arm van chromosoom 19-syndroom | Partiële duplicatie van chromosoom 19p · Partiële trisomie van chromosoom 19p · Partiële trisomie van de korte arm van chromosoom 19 |
| pt | Duplicação parcial do braço curto do cromossomo 19 | |
| pl | Zespół częściowej duplikacji krótkiego ramienia chromosomu 19 | Częściowa duplikacja chromosomu 19p · Częściowa trisomia chromosomu 19p · Częściowa trisomia krótkiego ramienia chromosomu 19p |
| cs | Částečná duplikace krátkého raménka chromozomu 19 | Parciální trizomie krátkého raménka chromozomu 19 · Částečná duplikace chromozomu 19p · Částečná trizomie chromozomu 19p |
| uk | Часткова дуплікація короткого плеча хромосоми 19 | Часткова дуплікація хромосоми 19p · Часткова трисомія хромосоми 19р · Часткова трисомія короткого плеча хромосоми 19 |
| zh | 19号染色体短臂部分重复 | 19号染色体短臂部分三体 |
| tr | 19. kromozomun kısa kolunun kısmi duplikasyonu | 19p kromozomunun kısmi trizomisi · 19p kromozomunun kısmi duplikasyonu · 19. kromozomun kısa kolunun kısmi trizomisi |
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| MONDO | 0018659 | E | validated | |
| MONDO | 18659 | E | validated | |
| UMLS | C4518508 | 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:262687Partial duplication of chromosome 19 syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases
Children (1):
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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/447985
- This record as JSON: /data/d/447985.json