ORPHA:261992
Partial deletion of the short arm of chromosome 20 syndrome
Synonyms: Partial deletion of chromosome 20p · Partial monosomy of chromosome 20p · Partial monosomy of the short arm of chromosome 20 · Pure partial 20p deletion
- 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 20 syndrome | Partial deletion of chromosome 20p · Partial monosomy of chromosome 20p · Partial monosomy of the short arm of chromosome 20 · Pure partial 20p deletion |
| fr | Syndrome de délétion partielle du bras court du chromosome 20 | Délétion partielle du chromosome 20p · Monosomie partielle du bras court du chromosome 20 · Monosomie partielle du chromosome 20p |
| de | Partielle Deletion des kurzen Arms von Chromosom 20 | Chromosom 20, partielle Deletion des kurzen Arms · Chromosom 20p-Deletion, partielle · Partielle Monosomie 20p · Partielle Monosomie des kurzen Arms von Chromosom 20 |
| es | Síndrome de deleción parcial del brazo corto del cromosoma 20 | Deleción parcial del cromosoma 20p · Deleción parcial pura del 20p · Monosomía parcial del brazo corto del cromosoma 20 · Monosomía parcial del cromosoma 20p |
| it | Sindrome delezione parziale del braccio corto del cromosoma 20 | Monosomia parziale del braccio corto del cromosoma 20 · Delezione 20p parziale pura · Delezione parziale del cromosoma 20p · Monosomia parziale del cromosoma 20p |
| nl | Partiële deletie van de korte arm van chromosoom 20-syndroom | Partiële deletie van chromosoom 20p · Partiële monosomie van chromosoom 20p · Partiële monosomie van de korte arm van chromosoom 20 · Zuivere partiële 20p-deletie |
| pt | Deleção parcial do braço curto do cromossoma 20 | Delecção parcial pura 20p · Deleção parcial do cromossoma 20 · Monossomia parcial do braço curto do cromossoma 20 · Monossomia parcial do cromossoma 20 |
| pl | Zespół częściowej delecji krótkiego ramienia chromosomu 20 | Częściowa delecja chromosomu 20p · Częściowa delecja krótkiego ramienia chromosomu 20 · Cześciowa monosomia chromosomu20p · Czysta częściowa delecja chromosomu 20p |
| cs | Parciální monozomie krátkého raménka chromozomu 20 | Parciální delece chromozomu 20p · Parciální delece krátkého raménka chromozomu 20 · Parciální monozomie chromozomu 20p · Čistá parciální 20p delece |
| uk | Часткова делеція короткого плеча хромосоми 20 | Часткова делеція хромосоми 20p · Часткова моносомія хромосоми 20p · Часткова моносомія короткого плеча хромосоми 20 · Чиста часткова делеція 20p |
| zh | 20号染色体短臂部分单体 | 20号染色体短臂部分单体 |
| tr | 20. kromozomun kısa kolunun kısmi monozomisi | Tamamen kısmi 20p delesyonu · 20p kromozomunun kısmi delesyonu · 20p kromozomunun kısmi monozomisi · 20. kromozomun kısa kolunun kısmi delesyonu |
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-11 | LD44.L1 | E | specific | validated |
| MONDO | 0016898 | E | validated | |
| MONDO | 16898 | E | validated | |
| UMLS | C5679673 | 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:261846Partial deletion of chromosome 20 syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases
Codes that Orphanet moved or referred to this one:
- ORPHA:1611OBSOLETE: Deletion 20p referred to · inactive
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Genes
0 directOrphanet records no gene directly on this code.
5
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/261992
- This record as JSON: /data/d/261992.json