ORPHA:261866
Partial deletion of the short arm of chromosome 2 syndrome
Synonyms: Partial deletion of chromosome 2p · Partial monosomy of chromosome 2p · Partial monosomy of the short arm of chromosome 2
- 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 2 syndrome | Partial deletion of chromosome 2p · Partial monosomy of chromosome 2p · Partial monosomy of the short arm of chromosome 2 |
| fr | Syndrome de délétion partielle du bras court du chromosome 2 | Délétion partielle du chromosome 2p · Monosomie partielle du bras court du chromosome 2 · Monosomie partielle du chromosome 2p |
| de | Chromosom 2p-Deletion, partielle | Chromosom 2, partielle Deletion des kurzen Arms · Partielle Monosomie 2p · Partielle Monosomie des kurzen Arms von Chromosom 2 |
| es | Síndrome de deleción parcial del brazo corto del cromosoma 2 | Deleción parcial del cromosoma 2p · Monosomía parcial del brazo corto del cromosoma 2 · Monosomía parcial del cromosoma 2p |
| it | Sindrome delezione parziale del braccio corto del cromosoma 2 | Delezione parziale del cromosoma 2p · Monosomia parziale del braccio corto del cromosoma 2 · Monosomia parziale del cromosoma 2p |
| nl | Partiële deletie van de korte arm van chromosoom 2-syndroom | Partiële deletie van chromosoom 2p · Partiële monosomie van chromosoom 2p · Partiële monosomie van de korte arm van chromosoom 2 |
| pt | Monossomia parcial do braço curto do cromossoma 2 | |
| pl | Zespół częściowej delecji krótkiego ramienia chromosomu 2 | Częściowa delecja chromosomu 2p · Cześciowa monosomia chromosomu 2p · Częściowa monosomia krótkiego ramienia chromosomu 2 |
| cs | Parciální delece krátkého raménka chromozomu 2 | Parciální delece chromozomu 2P · Parciální monozomie chromozomu 2p · Parciální monozomie krátkého raménka chromozomu 2 |
| uk | Часткова делеція короткого плеча хромосоми 2 | Часткова делеція хромосоми 2p · Часткова моносомія хромосоми 2p · Часткова моносомія короткого плеча хромосоми 2 |
| zh | 2号染色体短臂部分缺失 | 2号染色体短臂部分单体 |
| tr | 2. kromozomun kısa kolunun kısmi delesyonu | 2p kromozomunun kısmi delesyonu · 2p kromozomunun kısmi monozomisi · 2. kromozomun kısa kolunun kısmi monozomisi |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-11 | LD44.21 | E | specific | validated |
| MONDO | 0016884 | E | validated | |
| MONDO | 16884 | E | validated | |
| UMLS | C5679664 | 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:261771Partial deletion of chromosome 2 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/261866
- This record as JSON: /data/d/261866.json