ORPHA:264431
Partial duplication of the short arm of chromosome 1 syndrome
Synonyms: Partial duplication of chromosome 1p · Partial trisomy of chromosome 1p
- 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 1 syndrome | Partial duplication of chromosome 1p · Partial trisomy of chromosome 1p |
| fr | Syndrome de duplication partielle du bras court du chromosome 1 | Duplication partielle du chromosome 1p · Partial trisomy of the short arm of chromosome 1 · Trisomie partielle du bras court du chromosome 1 · Trisomie partielle du chromosome 1p |
| de | Chromosom 1, partielle Duplikation des kurzen Arms | Chromosom 1p-Duplikation, partielle · Partielle Duplikation 1p · Partielle Trisomie des kurzen Arms von Chromosom 1 |
| es | Síndrome de duplicación parcial del brazo corto del cromosoma 1 | Duplicación parcial del cromosoma 1p · Trisomía parcial del cromosoma 1p |
| it | Sindrome duplicazione parziale del braccio corto del cromosoma 1 | Duplicazione parziale del cromosoma 1p · Trisomia parziale del cromosoma 1p |
| nl | Partiële duplicatie van de korte arm van chromosoom 1-syndroom | Partiële duplicatie van chromosoom 1p · Partiële trisomie van chromosoom 1p |
| pt | Duplicação parcial do braço curto do cromossoma 1 | |
| pl | Zespół częściowej duplikacji krótkiego ramienia chromosomu 1 | Częściowa duplikacja chromosomu1p · Częściowa trisomia chromosomu 1p |
| cs | Parciální duplikace krátkého raménka chromozomu 1 | Parciální duplikace 1p · Parciální trizomie 1p |
| uk | Часткова дуплікація короткого плеча хромосоми 1 | Часткова дуплікація хромосоми 1p · Часткова трисомія хромосоми 1р |
| zh | 1号染色体短臂部分重复 | 1p部分重复 |
| tr | 1. kromozomun kısa kolunun kısmi duplikasyon | Kromozom 1p nin kısmi trizomisi · Kromozom 1p nin kısmi duplikasyonu |
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-11 | LD41.01 | E | specific | validated |
| MONDO | 0017012 | E | validated | |
| MONDO | 17012 | E | validated | |
| UMLS | C5679751 | 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/264431
- This record as JSON: /data/d/264431.json