ORPHA:263731
Partial deletion of the short arm of the chromosome X syndrome
Synonyms: Partial deletion of chromosome Xp · Partial deletion of the short arm of chromosome X · Partial monosomy of chromosome Xp · Partial monosomy of the short 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.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Partial deletion of the short arm of the chromosome X syndrome | Partial deletion of chromosome Xp · Partial deletion of the short arm of chromosome X · Partial monosomy of chromosome Xp · Partial monosomy of the short arm of chromosome X |
| fr | Syndrome de délétion partielle du bras court du chromosome x | Délétion partielle du chromosome Xp · Monosomie partielle du bras court du chromosome X · Monosomie partielle du chromosome Xp |
| de | Partielle Deletion des kurzen Arms von Chromosom X | Chromosom X, partielle Deletion des kurzen Arms · Chromosom Xp-Deletion, partielle · Partielle Deletion des Chromosoms Xp · Partielle Monosomie Xp · Partielle Monosomie des kurzen Arms von Chromosom X |
| es | Síndrome de deleción parcial del brazo corto del cromosoma X | Deleción parcial del cromosa Xp · Monosomía parcial del brazo corto del cromosoma X · Monosomía parcial del cromosoma Xp |
| it | Sindrome delezione parziale del braccio corto del cromosoma X | Monosomia parziale del braccio corto del cromosoma X · Delezione parziale del braccio corto del cromosoma X · Delezione parziale del cromosoma Xp · Monosomia parziale del cromosoma Xp |
| nl | Partiële deletie van de korte arm van chromosoom X-syndroom | Partiële deletie van chromosoom Xp · Partiële deletie van de korte arm van X-chromosoom · Partiële monosomie van chromosoom Xp · Partiële monosomie van de korte arm van X-chromosoom |
| pt | Deleção parcial do braço curto do cromossoma X | Deleção parcial do cromossoma Xp · Monossomia parcial do braço curto do cromossoma X · Monossomia parcial do cromossoma Xp |
| pl | Zespół częściowej delecji krókiego ramienia chromosomu X | Częściowa delecja chromosomu Xp · Częściowa delecja krótkiego ramienia chromosomu X · Częściowa monosomia chromosomu Xp |
| cs | Parciální monozomie krátkého raménka chromozomu X | Parciální delece Xp · Parciální delece krátkého raménka X chromozomu · Parciální monozomie Xp |
| uk | Часткова делеція короткого плеча хромосоми Х | Часткова делеція хромосоми Xp · Часткова делеція короткого плеча хромосоми Х · Часткова моносомія хромосоми Xp · Часткова моносомія короткого плеча хромосоми Х |
| zh | X染色体短臂部分单体 | X染色体短臂部分缺失 |
| tr | X kromozomunun kısa kolunun kısmi monozomisi | Kromozom Xp nin kısmi delesyonu · Kromozom Xp nin kısmi monozomisi · Kromozom X in kısa kolunun kısmi delesyonu |
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| MONDO | 0017004 | E | validated | |
| MONDO | 17004 | E | validated | |
| UMLS | C5679689 | 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:263726Partial deletion of chromosome X 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/263731
- This record as JSON: /data/d/263731.json