ORPHA:262074
Partial deletion of the long arm of chromosome 9 syndrome
Synonyms: Partial deletion of chromosome 9q · Partial monosomy of chromosome 9q · Partial monosomy of the long arm of chromosome 9
- 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 9 syndrome | Partial deletion of chromosome 9q · Partial monosomy of chromosome 9q · Partial monosomy of the long arm of chromosome 9 |
| fr | Syndrome de délétion partielle du bras long du chromosome 9 | Délétion partielle du chromosome 9q · Monosomie partielle du chromosome 9q · Monosomie partielle du long court du chromosome 9 |
| de | Partielle Deletion des langen Arms von Chromosom 9 | Chromosom 9, partielle Deletion des langen Arms · Chromosom 9q-Deletion, partielle · Partielle Monosomie 9q · Partielle Monosomie des langen Arms von Chromosom 9 |
| es | Síndrome de deleción parcial del brazo largo del cromosoma 9 | Deleción parcial del cromosoma 9q · Monosomía parcial del brazo largo del cromosoma 9 · Monosomía parcial del cromosoma 9q |
| it | Sindrome delezione parziale del braccio lungo del cromosoma 9 | Monosomia parziale del braccio lungo del cromosoma 9 · Delezione parziale del cromosoma 9q · Monosomia parziale del cromosoma 9q |
| nl | Partiële deletie van de lange arm van chromosoom 9-syndroom | Partiële monosomie van chromosoom 9q · Partiële monosomie van de lange arm van chromosoom 9 · Partiële deletie van chromosoom 9q |
| pt | Deleção parcial do braço longo do cromossoma 9 | Deleção parcial do cromossoma 9 · Monossomia parcial do braço longo do cromossoma 9 · Monossomia parcial do cromossoma 9 |
| pl | Częściowa monosomia długiego ramienia chromosomu 9 | Częściowa delecja chromosomu 9q · Częściowa delecja długiego ramienia chromosomu 9 · Cześciowa monosomia chromosomu 9q |
| cs | Parciální delece dlouhého raménka chromozomu 9 | Parciální delece chromozomu 9q · Parciální monozomie chromozomu 9q |
| uk | Часткова делеція довгого плеча хромосоми 9 | Часткова делеція хромосоми 9q · Часткова моносомія хромосоми 9q · Часткова моносомія довгого плеча хромосоми 9 |
| zh | 9号染色体长臂部分单体 | 9号染色体长臂部分单体 |
| tr | 9. kromozomun uzun kolunun kısmi monozomisi | 9q kromozomunun kısmi delesyonu · 9q kromozomunun kısmi monozomisi · 9. kromozomun uzun kolunun kısmi delesyonu |
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-11 | LD44.90 | E | specific | validated |
| MONDO | 0016908 | E | validated | |
| MONDO | 16908 | E | validated | |
| UMLS | C5679677 | 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:261806Partial deletion of chromosome 9 syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases
Children (6):
- ORPHA:5311519q21.13 microdeletion syndrome
- ORPHA:4019239q31.1q31.3 microdeletion syndrome
- ORPHA:4958189q33.3q34.11 microdeletion syndrome
- ORPHA:96147Kleefstra syndrome due to 9q34 microdeletion
- ORPHA:77301Monosomy 9q22.3 syndrome
- ORPHA:352665Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion
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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/262074
- This record as JSON: /data/d/262074.json