ORPHA:262803
Partial duplication of the short arm of chromosome 17 syndrome
Synonyms: Partial duplication of chromosome 17p · Partial trisomy of chromosome 17p · Partial trisomy of the short arm of chromosome 17
- 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 17 syndrome | Partial duplication of chromosome 17p · Partial trisomy of chromosome 17p · Partial trisomy of the short arm of chromosome 17 |
| fr | Syndrome de duplication partielle du bras court du chromosome 17 | Duplication partielle du chromosome 17p · Trisomie partielle du bras court du chromosome 17 · Trisomie partielle du chromosome 17p |
| de | Chromosom 17, partielle Duplikation des kurzen Arms | Chromosom 17p-Duplikation, partielle · Partielle Trisomie 17p · Partielle Trisomie des kurzen Arms von Chromosom 17 |
| es | Síndrome de duplicación parcial del brazo corto del cromosoma 17 | Duplicación parcial del cromosoma 17p · Trisomía parcial del brazo corto del cromosoma 17 · Trisomía parcial del cromosoma 17p |
| it | Sindrome duplicazione parziale del braccio corto del cromosoma 17 | Duplicazione parziale del cromosoma 17p · Trisomia parziale del braccio corto del cromosoma 17 · Trisomia parziale del cromosoma 17p |
| nl | Partiële duplicatie van de korte arm van chromosoom 17-syndroom | Partiële duplicatie van chromosoom 17p · Partiële trisomie van chromosoom 17p · Partiële trisomie van de korte arm van chromosoom 17 |
| pt | Trissomia parcial do braço curto do cromossoma 17 | |
| pl | Zespół częściowej duplikacji krótkiego ramienia chromosomu 17 | Częściowa duplikacja chromosomu 17p · Częściowa duplikacja krótkiego ramienia chromosomu 17 · Częściowa trisomia chromosomu 17p |
| cs | Parciální duplikace krátkého raménka chromozomu 17 | Parciální duplikace 17p · Parciální trizomie 17p · Parciální trizomie krátkého raménka chromozomu 17 |
| uk | Часткова дуплікація короткого плеча хромосоми 17 | Часткова дуплікація хромосоми 17p · Часткова трисомія хромосоми 17р · Часткова трисомія короткого плеча хромосоми 17 |
| zh | 17号染色体短臂部分重复 | 17号染色体短臂部分重复 |
| tr | 17. kromozomun kısa kolunun kısmi duplikasyonu | 17p kromozomunun kısmi trizomisi · 17p kromozomunun kısmi duplikasyonu · 17. kromozomun kısa kolunun kısmi trizomi |
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-11 | LD41.G1 | E | specific | validated |
| MONDO | 0016950 | E | validated | |
| MONDO | 16950 | E | validated | |
| UMLS | C5679714 | 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:262677Partial duplication of chromosome 17 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/262803
- This record as JSON: /data/d/262803.json