ORPHA:262698
Partial duplication of the short arm of chromosome 2 syndrome
Synonyms: Partial duplication of chromosome 2p · Partial trisomy of chromosome 2p
- 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 short arm of chromosome 2 syndrome | Partial duplication of chromosome 2p · Partial trisomy of chromosome 2p |
| fr | Syndrome de duplication partielle du bras court du chromosome 2 | Duplication partielle du chromosome 2p · Partial trisomy of the short arm of chromosome 2 · Trisomie partielle du bras court du chromosome 2 · Trisomie partielle du chromosome 2p |
| de | Chromosom 2, partielle Duplikation des kurzen Arms | Chromosom 2p-Duplikation, partielle · Partielle Trisomie 2p · Partielle Trisomie des kurzen Arms von Chromosom 2 |
| es | Síndrome de duplicación parcial del brazo corto del cromosoma 2 | Duplicación parcial del cromosoma 2p · Trisomía parcial del cromosoma 2p |
| it | Sindrome duplicazione parziale del braccio corto del cromosoma 2 | Duplicazione parziale del cromosoma 2p · Trisomia parziale del cromosoma 2p |
| nl | Partiële duplicatie van de korte arm van chromosoom 2-syndroom | Partiële duplicatie van chromosoom 2p · Partiële trisomie van chromosoom 2p |
| pt | Trissomia parcial do braço curto do cromossoma 2 | |
| pl | Zespół częściowej duplikacji krótkiego ramienia chromosomu 2 | Częściowa duplikacja chromosomu 2p · Częściowa trisomia chromosomu 2p |
| cs | Parciální duplikace krátkého raménka chromozomu 2 | Parciální duplikace 2p · Parciální trizomie 2p |
| uk | Часткова дуплікація короткого плеча хромосоми 2 | Часткова дуплікація хромосоми 2p · Часткова трисомія хромосоми 2р |
| zh | 2号染色体短臂部分重复 | 2号染色体短臂部分重复 |
| tr | 2. kromozomun kısa kolunun kısmi duplikasyonu | 2p kromozomunun kısmi trizomisi · 2p kromozomunun kısmi duplikasyonu |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-11 | LD41.11 | E | specific | validated |
| MONDO | 0016939 | E | validated | |
| MONDO | 16939 | E | validated | |
| UMLS | C5679718 | 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:262196Partial duplication of chromosome 2 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/262698
- This record as JSON: /data/d/262698.json