ORPHA:263756
Partial deletion of the long arm of chromosome X syndrome
Synonyms: Partial deletion of chromosome Xq · Partial monosomy of chromosome Xq · Partial monosomy of the long arm of chromosome X
- 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 deletion of the long arm of chromosome X syndrome | Partial deletion of chromosome Xq · Partial monosomy of chromosome Xq · Partial monosomy of the long arm of chromosome X |
| fr | Syndrome de délétion partielle du bras long du chromosome x | Délétion partielle du chromosome Xq · Monosomie partielle du chromosome Xq · Monsomie partielle du bras long du chromosome X |
| de | Chromosom X, partielle Deletion des langen Arms | Chromosom Xq-Deletion, partielle · Partielle Monosomie Xq · Partielle Monosomie des langen Arms von Chromosom X |
| es | Síndrome de deleción parcial del brazo largo del cromosoma X | Deleción parcial del cromosoma Xq · Monosomía parcial del brazo largo del cromosoma X · Monosomía parcial del cromosoma Xq |
| it | Sindrome delezione parziale del braccio lungo del cromosoma X | Monosomia parziale del braccio lungo del cromosoma X · Delezione parziale del cromosoma Xp · Monosomia parziale del braccio corto del cromosoma X · Monosomia parziale del cromosoma Xq |
| nl | Partiële deletie van de lange arm van chromosoom X-syndroom | Partiële deletie van chromosoom Xq · Partiële monosomie van chromosoom Xq · Partiële monosomie van de lange arm van chromosoom X |
| pt | Deleção parcial do braço longo do cromossoma X | |
| pl | Zespół częściowej delecji długiego ramienia chromosomu X | Częściowa delecja chromosomu Xq · Częściowa monosomia chromosomu Xq · Częściowa monosomia krótkiego ramienia chromosomu X |
| cs | Parciální delece dlouhého raménka chromozomu X | Parciální delece Xq · Parciální monozomie Xq · Parciální monozomie dlouhého raménka chromozomu X |
| uk | Часткова днлнція довгого плеча хромосоми Х | Часткова делеція хромосоми Xq · Часткова моносомія хромосоми Xq · Часткова моносомія довгого плеча хромосоми Х |
| zh | X染色体长臂部分缺失 | X染色体长臂部分单体 |
| tr | X kromozomunun uzun kolunun kısmi delesyonu | Kromozom Xq nun kısmi delesyonu · Kromozom Xq nun kısmi monozomisi · Kromozom X in uzun kolunun kısmi monozomisi |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| MONDO | 0017007 | E | validated | |
| MONDO | 17007 | E | validated | |
| UMLS | C5679688 | 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:263726Partial deletion of chromosome X 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/263756
- This record as JSON: /data/d/263756.json