ORPHA:261965
Partial deletion of the short arm of chromosome 17 syndrome
Synonyms: Partial deletion of chromosome 17p · Partial monosomy of chromosome 17p · Partial monosomy of the short arm of chromosome 17
- 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 chromosome 17 syndrome | Partial deletion of chromosome 17p · Partial monosomy of chromosome 17p · Partial monosomy of the short arm of chromosome 17 |
| fr | Syndrome de délétion partielle du bras court du chromosome 17 | Délétion partielle du chromosome 17p · Monosomie partielle du bras court du chromosome 17 · Monosomie partielle du chromosome 17p |
| de | Partielle Deletion des kurzen Arms von Chromosom 17 | Chromosom 17, partielle Deletion des kurzen Arms · Chromosom 17p-Deletion, partielle · Partielle Monosomie 17p · Partielle Monosomie des kurzen Arms von Chromosom 17 |
| es | Síndrome de deleción parcial del brazo corto del cromosoma 17 | Deleción parcial del cromosoma 17p · Monosomía parcial del brazo corto del cromosoma 17 · Monosomía parcial del cromosoma 17p |
| it | Sindrome delezione parziale del braccio corto del cromosoma 17 | Monosomia parziale del braccio corto del cromosoma 17 · Delezione parziale del cromosoma 17p · Monosomia parziale del cromosoma 17p |
| nl | Partiële deletie van de korte arm van chromosoom 17-syndroom | Partiële deletie van chromosoom 17p · Partiële monosomie van chromosoom 17p · Partiële monosomie van de korte arm van chromosoom 17 |
| pt | Deleção parcial do braço curto do cromossoma 17 | Deleção parcial do cromossoma 17 · Monossomia parcial do braço curto do cromossoma 17 · Monossomia parcial do cromossoma 17 |
| pl | Zespół częściowej delecji krótkiego ramienia chromosomu 17 | Częściowa delecja chromosomu 17p · Częściowa delecja krótkiego ramienia chromosomu 17 · Cześciowa monosomia chromosomu 17p |
| cs | Parciální monozomie krátkého raménka chromozomu 17 | Parciální delece chromozomu 17p · Parciální delece krátkého raménka chromozomu 17 · Parciální monozomie chromozomu 17p |
| uk | Часткова делеція короткого плеча хромосоми 17 | Часткова делеція хромосоми 17p · Часткова моносомія хромосоми 17p · Часткова моносомія короткого плеча хромосоми 17 |
| zh | 17号染色体短臂部分单体 | 17号染色体短臂部分单体 |
| tr | 17. kromozomun kısa kolunun kısmi monozomisi | 17p kromozomunun kısmi delesyonu · 17p kromozomunun kısmi monozomisi · 17. kromozomun kısa kolunun kısmi delesyonu |
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-11 | LD44.H1 | E | specific | validated |
| MONDO | 0022754 | E | validated | |
| UMLS | C5679671 | 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:261831Partial deletion of chromosome 17 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/261965
- This record as JSON: /data/d/261965.json