ORPHA:262932
Partial duplication of the long arm of chromosome 13 syndrome
Synonyms: Partial duplication of chromosome 13q · Partial trisomy of chromosome 13q · Partial trisomy of the long arm of chromosome 13
- 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.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Partial duplication of the long arm of chromosome 13 syndrome | Partial duplication of chromosome 13q · Partial trisomy of chromosome 13q · Partial trisomy of the long arm of chromosome 13 |
| fr | Syndrome de duplication partielle du bras long du chromosome 13 | Duplication partielle du chromosome 13q · Trisomie partielle du bras long du chromosome 13 · Trisomie partielle du chromosome 13q |
| de | Chromosom 13, partielle Duplikation des langen Arms | Chromosom 13q-Duplikation, partielle · Partielle Duplikation 13q · Partielle Trisomie des langen Arms von Chromosom 13 |
| es | Síndrome de duplicación parcial del brazo largo del cromosoma 13 | Duplicación parcial del cromosoma 13q · Trisomía parcial del brazo largo del cromosoma 13 · Trisomía parcial del cromosoma 13q |
| it | Sindrome duplicazione parziale del braccio lungo del cromosoma 13 | Duplicazione parziale del cromosoma 13q · Trisomia parziale del braccio lungo del cromosoma 13 · Trisomia parziale del cromosoma 13q |
| nl | Partiële duplicatie van de lange arm van chromosoom 13-syndroom | Partiële duplicatie van chromosoom 13q · Partiële trisomie van chromosoom 13q · Partiële trisomie van de lange arm van chromosoom 13 |
| pt | Trissomia parcial do braço longo do cromossoma 13 | |
| pl | Zespół częściowej duplikacji długiego ramienia chromosomu 13 | Częściowa duplikacja chromosomu 13q · Częściowa trisomia chromosomu 13q · Częściowa trisomia długiego ramienia chromosomu 13 |
| cs | Parciální duplikace dlouhého raménka chromozomu 13 | Parciální duplikace 13q · Parciální trizomie 13q · Parciální trizomie dlouhého raménka chromozomu 13 |
| uk | Часткове дуплікація довгого плеча хромосоми 13 | Часткова дуплікація хромосоми 13q · Часткова трисомія хромосоми 13q · Часткова трисомія довгого плеча хромосоми 13 |
| zh | 13号染色体长臂部分重复 | 13号染色体长臂部分三体 |
| tr | 13. kromozomun uzun kolunun kısmi duplikasyonu | 13q kromozomunun kısmi trizomisi · 13q kromozomunun kısmi duplikasyonu · 13. Kromozomun uzun kolunun kısmi trizomisi |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-11 | LD41.C | E | specific | validated |
| MONDO | 0022177 | E | validated | |
| UMLS | C5679705 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:98132Partial autosomal duplication/triplication syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases
4
Genes
0 directOrphanet records no gene directly on this code.
5
Prevalence and incidence
0 recordsNo prevalence record in this release.
6
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/262932
- This record as JSON: /data/d/262932.json