ORPHA:262740
Partial duplication of the short arm of chromosome 6 syndrome
Synonyms: Partial trisomy of the short arm of chromosome 6 · Partial duplication of chromosome 6p · Partial trisomy of chromosome 6p
- 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 6 syndrome | Partial trisomy of the short arm of chromosome 6 · Partial duplication of chromosome 6p · Partial trisomy of chromosome 6p |
| fr | Syndrome de duplication partielle du bras court du chromosome 6 | Duplication partielle du chromosome 6p · Trisomie partielle du bras court du chromosome 6 · Trisomie partielle du chromosome 6p |
| de | Chromosom 6, partielle Duplikation des kurzen Arms | Chromosom 6p-Duplikation, partielle · Partielle Trisomie 6p · Partielle Trisomie des kurzen Arms von Chromosom 6 |
| es | Síndrome de duplicación parcial del brazo corto del cromosoma 6 | Duplicación parcial del cromosoma 6p · Trisomía parcial del brazo corto del cromosoma 6 · Trisomía parcial del cromosoma 6p |
| it | Sindrome duplicazione parziale del braccio corto del cromosoma 6 | Duplicazione parziale del cromosoma 6p · Trisomia parziale del braccio corto del cromosoma 6 · Trisomia parziale del cromosoma 6p |
| nl | Partiële duplicatie van de korte arm van chromosoom 6-syndroom | Partiële duplicatie van chromosoom 6p · Partiële trisomie van chromosoom 6p · Partiële trisomie van de korte arm van chromosoom 6 |
| pt | Trissomia parcial do braço curto do cromossoma 6 | |
| pl | Zespół częściowej duplikacji krótkiego ramienia chromosomu 6 | Częściowa duplikacja chromosomu 6p · Częściowa trisomia chromosomu 6p · Częściowa trisomia krótkiego ramienia chromosomu 6 |
| cs | Parciální duplikace krátkého raménka chromozomu 6 | Parciální duplikace 6p · Parciální trizomie 6p · Parciální trizomie krátkého raménka chromozomu 6 |
| uk | Часткова дуплікація короткого плеча хромосоми 6 | Часткова дуплікація хромосоми 6p · Часткова трисомія хромосоми 6р · Часткова трисомія короткого плеча хромосоми 6 |
| zh | 6号染色体短臂部分重复 | 6号染色体短臂部分重复 |
| tr | 6. kromozomun kısa kolunun kısmi duplikasyonu | 6p kromozomunun kısmi trizomisi · 6p kromozomunun kısmi duplikasyonu · 6. kromozomun kısa kolunun kısmi trizomisi |
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-11 | LD41.51 | E | specific | validated |
| MONDO | 0016943 | E | validated | |
| MONDO | 16943 | E | validated | |
| UMLS | C5679721 | 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:262628Partial duplication of chromosome 6 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/262740
- This record as JSON: /data/d/262740.json