ORPHA:262758
Partial duplication of the short arm of chromosome 8 syndrome
Synonyms: Partial duplication of chromosome 8p · Partial trisomy of chromosome 8p · Partial trisomy of the short arm of chromosome 8
- 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 8 syndrome | Partial duplication of chromosome 8p · Partial trisomy of chromosome 8p · Partial trisomy of the short arm of chromosome 8 |
| fr | Syndrome de duplication partielle du bras court du chromosome 8 | Duplication partielle du chromosome 8p · Trisomie partielle du bras court du chromosome 8 · Trisomie partielle du chromosome 8p |
| de | Chromosom 8, partielle Duplikation des kurzen Arms | Chromosom 8p-Duplikation, partielle · Partielle Trisomie 8p · Partielle Trisomie des kurzen Arms von Chromosom 8 |
| es | Síndrome de duplicación parcial del brazo corto del cromosoma 8 | Duplicación parcial del cromosoma 8p · Trisomía parcial del brazo corto del cromosoma 8 · Trisomía parcial del cromosoma 8p |
| it | Sindrome duplicazione parziale del braccio corto del cromosoma 8 | Duplicazione parziale del cromosoma 8p · Trisomia parziale del braccio corto del cromosoma 8 · Trisomia parziale del cromosoma 8p |
| nl | Partiële duplicatie van de korte arm van chromosoom 8-syndroom | Partiële duplicatie van chromosoom 8p · Partiële trisomie van chromosoom 8p · Partiële trisomie van de korte arm van chromosoom 8 |
| pt | Trissomia parcial do braço curto do cromossoma 8 | |
| pl | Zespół częściowej duplikacji krótkiego ramienia chromosomu 8 | Częściowa duplikacja chromosomu 8p · Częściowa trisomia chromosomu 8p · Częściowa trisomia krótkiego ramienia chromosomu 8 |
| cs | Parciální duplikace krátkého raménka chromozomu 8 | Parciální duplikace 8p · Parciální trizomie 8p · Parciální trizomie krátkého raménka chromozomu 8 |
| uk | Часткова дуплікація короткого плеча хромосоми 8 | Часткова дуплікація хромосоми 8p · Часткова трисомія хромосоми 8р · Часткова трисомія короткого плеча хромосоми 8 |
| zh | 8号染色体短臂部分重复 | 8号染色体短臂部分重复 |
| tr | 8. kromozomun kısa kolunun kısmi duplikasyonu | 8p kromozomunun kısmi trizomisi · 8p kromozomunun kısmi duplikasyonu · 8. kromozomun kısa kolunun kısmi trizomi |
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-11 | LD41.71 | E | specific | validated |
| MONDO | 0016945 | E | validated | |
| MONDO | 16945 | E | validated | |
| UMLS | C4708597 | 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:262638Partial duplication of chromosome 8 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/262758
- This record as JSON: /data/d/262758.json