ORPHA:263004
Partial duplication of the long arm of chromosome 22 syndrome
Synonyms: Partial duplication of chromosome 22q · Partial trisomy of chromosome 22q · Partial trisomy of the long arm of chromosome 22
- 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 22 syndrome | Partial duplication of chromosome 22q · Partial trisomy of chromosome 22q · Partial trisomy of the long arm of chromosome 22 |
| fr | Syndrome de duplication partielle du bras long du chromosome 22 | Duplication partielle du chromosome 22q · Trisomie partielle du bras long du chromosome 22 · Trisomie partielle du chromosome 22q |
| de | Chromosom 22, partielle Duplikation des langen Arms | Chromosom 22q-Duplikation, partielle · Partielle Duplikation 22q · Partielle Trisomie des langen Arms von Chromosom 22 |
| es | Síndrome de duplicación parcial del brazo largo del cromosoma 22 | Duplicación parcial del cromosoma 22q · Trisomía parcial del brazo largo del cromosoma 22 · Trisomía parcial del cromosoma 22q |
| it | Sindrome duplicazione parziale del braccio lungo del cromosoma 22 | Duplicazione parziale del cromosoma 22q · Trisomia parziale del braccio lungo del cromosoma 22 · Trisomia parziale del cromosoma 22q |
| nl | Partiële trisomie van de lange arm van chromosoom 22-syndroom | Partiële duplicatie van chromosoom 22q · Partiële trisomie van chromosoom 22q · Partiële trisomie van de lange arm van chromosoom 22 |
| pt | Trissomia parcial do braço longo do cromossoma 22 | |
| pl | Zespół częściowej duplikacji długiego ramienia chromosomu 22 | Częściowa duplikacja chromosomu 22q · Częściowa trisomia chromosomu 22q · Częściowa trisomia długiego ramienia chromosomu 22 |
| cs | Parciální duplikace dlouhého raménka chromozomu 22 | Parciální duplikace 22q · Parciální trizomie 22q · Parciální trizomie dlouhého raménka chromozomu 22 |
| uk | Часткове дуплікація довгого плеча хромосоми 22 | Часткова дуплікація хромосоми 22q · Часткова трисомія хромосоми 22q · Часткова трисомія довгого плеча хромосоми 22 |
| zh | 22号染色体长臂部分重复 | 22号染色体长臂部分三体 |
| tr | 22. kromozomun uzun kolunun kısmi duplikasyonu | 22q kromozomunun kısmi trizomisi · 22q kromozomunun kısmi duplikasyonu · 22. Kromozomun uzun kolunun kısmi trizomisi |
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-11 | LD41.M | E | specific | validated |
| MONDO | 0016972 | E | validated | |
| MONDO | 16972 | E | validated | |
| UMLS | C5679699 | 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:98132Partial autosomal duplication/triplication 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/263004
- This record as JSON: /data/d/263004.json