ORPHA:262941
Partial duplication of the long arm of chromosome 14 syndrome
Synonyms: Partial duplication of chromosome 14q · Partial trisomy of chromosome 14q · Partial trisomy of the long arm of chromosome 14
- 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 14 syndrome | Partial duplication of chromosome 14q · Partial trisomy of chromosome 14q · Partial trisomy of the long arm of chromosome 14 |
| fr | Syndrome de duplication partielle du bras long du chromosome 14 | Duplication partielle du chromosome 14q · Trisomie partielle du bras long du chromosome 14 · Trisomie partielle du chromosome 14q |
| de | Chromosom 14, partielle Duplikation des langen Arms | Chromosom 14q-Duplikation, partielle · Partielle Duplikation 14q · Partielle Trisomie des langen Arms von Chromosom 14 |
| es | Síndrome de duplicación parcial del brazo largo del cromosoma 14 | Duplicación parcial del cromosoma 14q · Trisomía parcial del brazo largo del cromosoma 14 · Trisomía parcial del cromosoma 14q |
| it | Sindrome duplicazione parziale del braccio lungo del cromosoma 14 | Duplicazione parziale del cromosoma 14q · Trisomia parziale del braccio lungo del cromosoma 14 · Trisomia parziale del cromosoma 14q |
| nl | Partiële trisomie van de lange arm van chromosoom 14-syndroom | Partiële duplicatie van chromosoom 14q · Partiële trisomie van chromosoom 14q · Partiële trisomie van de lange arm van chromosoom 14 |
| pt | Trissomia parcial do braço longo do cromossoma 14 | |
| pl | Zespół częściowej duplikacji długiego ramienia chromosomu 14 | Częściowa duplikacja chromosomu 14q · Częściowa trisomia chromosomu 14q · Częściowa trisomia długiego ramienia chromosomu 14 |
| cs | Parciální duplikace dlouhého raménka chromozomu 14 | Parciální duplikace 14q · Parciální trizomie 14q · Parciální trizomie dlouhého raménka chromozomu 14 |
| uk | Часткова дуплікація довгого плеча хромосоми 14 | Часткова дуплікація хромосоми 14q · Часткова трисомія хромосоми 14q · Часткова трисомія довгого плеча хромосоми 14 |
| zh | 14号染色体长臂部分重复 | 14号染色体长臂部分三体 |
| tr | 14. kromozomun uzun kolunun kısmi duplikasyonu | 14q kromozomunun kısmi trizomisi · 14q kromozomunun kısmi duplikasyonu · 14. Kromozomun uzun kolunun kısmi trizomisi |
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-11 | LD41.D | E | specific | validated |
| MONDO | 0016964 | E | validated | |
| MONDO | 16964 | E | validated | |
| UMLS | C5679704 | 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
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 50 cases | Worldwide | Case(s) | Validated | 27286879[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_27286879[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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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/262941
- This record as JSON: /data/d/262941.json