ORPHA:262869
Partial duplication of the long arm of chromosome 5 syndrome
Synonyms: Partial duplication of chromosome 5q · Partial trisomy of chromosome 5q · Partial trisomy of the long arm of chromosome 5
- 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 long arm of chromosome 5 syndrome | Partial duplication of chromosome 5q · Partial trisomy of chromosome 5q · Partial trisomy of the long arm of chromosome 5 |
| fr | Syndrome de duplication partielle du bras long du chromosome 5 | Duplication partielle du chromosome 5q · Trisomie partielle du bras long du chromosome 5 · Trisomie partielle du chromosome 5q |
| de | Partielle Duplikation des langen Arms von Chromosom 5 | Chromosom 5q-Duplikation, partielle · Partielle Duplikation 5q |
| es | Síndrome de duplicación parcial del brazo largo del cromosoma 5 | Duplicación parcial del cromosoma 5q · Trisomía parcial del brazo largo del cromosoma 5 · Trisomía parcial del cromosoma 5q |
| it | Sindrome duplicazione parziale del braccio lungo del cromosoma 5 | Trisomia parziale del braccio lungo del cromosoma 5 · Duplicazione parziale del cromosoma 5q · Trisomia parziale del cromosoma 5q |
| nl | Partiële duplicatie van lange arm van chromosoom 5-syndroom | Partiële duplicatie van chromosoom 5q · Partiële trisomie van chromosoom 5q · Partiële trisomie van lange arm van chromosoom 5 |
| pt | Duplicação parcial do braço longo do cromossoma 5 | Duplicação parcial do cromossoma 5q · Trissomia parcial do braço longo do cromossoma 5 · Trissomia parcial do cromossoma 5q |
| pl | Zespół częściowej duplikacji długiego ramienia chromosomu 5 | Częściowa duplikacja chromosomu 5q · Częściowa duplikacja długiego ramienia chromosomu 5 · Częściowa trisomia chromosomu 5q |
| cs | Parciální trizomie dlouhého raménka chromozomu 5 | Parciální duplikace 5q · Parciální duplikace dlouhého raménka chromozomu 5 · Parciální trizomie 5q |
| uk | Часткове дуплікація довгого плеча хромосоми 5 | Часткова дуплікація хромосоми 5q · Часткова трисомія хромосоми 5q · Часткова трисомія довгого плеча хромосоми 5 |
| zh | 5号染色体长臂部分三体 | 5号染色体长臂部分重复 |
| tr | 5. kromozomun uzun kolunun kısmi trizomisi | 5q kromozomunun kısmi trizomisi · 5q kromozomunun kısmi duplikasyonu · 5. kromozomun uzun kolunun kısmi duplikasyonu |
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-11 | LD41.40 | E | specific | validated |
| MONDO | 0016956 | E | validated | |
| MONDO | 16956 | E | validated | |
| UMLS | C4518494 | 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:262211Partial duplication/triplication of chromosome 5 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/262869
- This record as JSON: /data/d/262869.json