ORPHA:262833
Partial duplication of the long arm of chromosome 1 syndrome
Synonyms: Partial duplication of chromosome 1q · Partial trisomy of chromosome 1q · Partial trisomy of the long arm of chromosome 1
- 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 1 syndrome | Partial duplication of chromosome 1q · Partial trisomy of chromosome 1q · Partial trisomy of the long arm of chromosome 1 |
| fr | Syndrome de duplication partielle du bras long du chromosome 1 | Duplication partielle du chromosome 1q · Trisomie partielle du bras long du chromosome 1 · Trisomie partielle du chromosome 1q |
| de | Chromosom 1, partielle Duplikation des langen Arms | Chromosom 1q-Duplikation, partielle · Partielle Duplikation 1q · Partielle Trisomie des langen Arms von Chromosom 1 |
| es | Síndrome de duplicación parcial del brazo largo del cromosoma 1 | Duplicación parcial del cromosoma 1q · Trisomía parcial del brazo largo del cromosoma 1 · Trisomía parcial del cromosoma 1q |
| it | Sindrome duplicazione parziale del braccio lungo del cromosoma 1 | Duplicazione parziale del cromosoma 1q · Trisomia parziale del braccio lungo del cromosoma 1 · Trisomia parziale del cromosoma 1q |
| nl | Partiële duplicatie van de lange arm van chromosoom 1-syndroom | Partiële duplicatie van chromosoom 1q · Partiële trisomie van chromosoom 1q · Partiële trisomie van de lange arm van chromosoom 1 |
| pt | Trissomia parcial do braço longo do cromossoma 1 | |
| pl | Zespół częściowej duplikacji długiego ramienia chromosomu 1 | Częściowa duplikacja chromosomu 1q · Częściowa trisomia chromosomu 1q · Częściowa trisomia długiego ramienia chromosomu 1 |
| cs | Parciální duplikace dlouhého raménka chromozomu 1 | Parciální duplikace 1q · Parciální trizomie 1q · Parciální trizomie dlouhého raménka chromozomu 1 |
| uk | Часткове дуплікація довгого плеча хромосоми 1 | Часткова дуплікація хромосоми 1q · Часткова трисомія хромосоми 1q · Часткова трисомія довгого плеча хромосоми 1 |
| zh | 1号染色体长臂部分重复 | 1号染色体长臂部分重复 |
| tr | 1. kromozomun uzun kolunun kısmi duplikasyonu | 1q kromozomunun kısmi trizomisi · 1. kromozomun kısmi duplikasyonu · 1. kromozomun uzun kolunun kısmi trizomi |
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-11 | LD41.00 | E | specific | validated |
| MONDO | 0016952 | E | validated | |
| MONDO | 16952 | E | validated | |
| UMLS | C4708598 | 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:262191Partial duplication of chromosome 1 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/262833
- This record as JSON: /data/d/262833.json