ORPHA:262173
Partial deletion of the long arm of chromosome 21 syndrome
Synonyms: Partial deletion of chromosome 21q · Partial monosomy of chromosome 21q · Partial monosomy of the long arm of chromosome 21
- 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 long arm of chromosome 21 syndrome | Partial deletion of chromosome 21q · Partial monosomy of chromosome 21q · Partial monosomy of the long arm of chromosome 21 |
| fr | Syndrome de délétion partielle du bras long du chromosome 21 | Délétion partielle du chromosome 21q · Monosomie partielle du chromosome 21q · Monosomie partielle du long court du chromosome 21 |
| de | Chromosom 21q-Deletion, partielle | Chromosom 21, partielle Deletion des langen Arms · Partielle Monosomie 21q · Partielle Monosomie des langen Arms von Chromosom 21 |
| es | Síndrome de deleción parcial del brazo largo del cromosoma 21 | Deleción parcial del cromosoma 21q · Monosomía parcial del brazo largo del cromosoma 21 · Monosomía parcial del cromosoma 21q |
| it | Sindrome delezione parziale del braccio lungo del cromosoma 21 | Delezione parziale del cromosoma 21q · Monosomia parziale del braccio lungo del cromosoma 21 · Monosomia parziale del cromosoma 21q |
| nl | Partiële deletie van de lange arm van chromosoom 21-syndroom | Partiële deletie van chromosoom 21q · Partiële monosomie van chromosoom 21q · Partiële monosomie van de lange arm van chromosoom 21 |
| pt | Monossomia parcial do braço longo do cromossoma 21 | |
| pl | Zespół częściowej delecji długiego ramienia chromosomu 21 | Częściowa delecja chromosomu 21q · Cześciowa monosomia chromosomu 21q · Częściowa monosomia długiego ramienia chromosomu 21 |
| cs | Parciální delece dlouhého raménka chromozomu 21 | Parciální delece 21q · Parciální monozomie 21q · Parciální monozomie dlouhého raménka chromozomu 21 |
| uk | Часткова делеція довгого плеча хромосоми 21 | Часткова делеція хромосоми 21q · Часткова моносомія хромосоми 21q · Часткова моносомія довгого плеча хромосоми 21 |
| zh | 21号染色体长臂部分缺失 | 21号染色体长臂部分单体 |
| tr | 21. kromozomun uzun kolunun kısmi delesyonu | 21q kromozomunun kısmi delesyonu · 21q kromozomunun kısmi monozomisi · 21. kromozomun uzun kolunun kısmi monozomisi |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-11 | LD44.M | E | specific | validated |
| MONDO | 0016919 | E | validated | |
| MONDO | 16919 | E | validated | |
| UMLS | C5679731 | 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:98142Partial autosomal deletion 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/262173
- This record as JSON: /data/d/262173.json