ORPHA:262065
Partial deletion of the long arm of chromosome 8 syndrome
Synonyms: Partial deletion of chromosome 8q · Partial monosomy of chromosome 8q · Partial monosomy of the long arm of chromosome 8
- 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.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Partial deletion of the long arm of chromosome 8 syndrome | Partial deletion of chromosome 8q · Partial monosomy of chromosome 8q · Partial monosomy of the long arm of chromosome 8 |
| fr | Syndrome de délétion partielle du bras long du chromosome 8 | Délétion partielle du chromosome 8q · Monosomie partielle du chromosome 8q · Monosomie partielle du long court du chromosome 8 |
| de | Chromosom 8q-Deletion, partielle | Chromosom 8, partielle Deletion des langen Arms · Partielle Monosomie 8q · Partielle Monosomie des langen Arms von Chromosom 8 |
| es | Síndrome de deleción parcial del brazo largo del cromosoma 8 | Deleción parcial del cromosoma 8q · Monosomía parcial del brazo largo del cromosoma 8 · Monosomía parcial del cromosoma 8q |
| it | Sindrome delezione parziale del braccio lungo del cromosoma 8 | Delezione parziale del cromosoma 8q · Monosomia parziale del braccio lungo del cromosoma 8 · Monosomia parziale del cromosoma 8q |
| nl | Partiële deletie van de lange arm van chromosoom 8-syndroom | Partiële deletie van chromosoom 8q · Partiële monosomie van chromosoom 8q · Partiële monosomie van de lange arm van chromosoom 8 |
| pt | Monossomia parcial do braço longo do cromossoma 8 | |
| pl | Zespół częściowej delecji długiego ramienia chromosomu 8 | Częściowa delecja chromosomu 8q · Cześciowa monosomia chromosomu 8q · Częściowa monosomia długiego ramienia chromosomu 8 |
| cs | Parciální delece dlouhého raménka chromozomu 8 | Parciální delece chromozomu 8q · Parciální monozomie chromozomu 8q · Parciální monozomie dlouhého raménka chromozomu 8 |
| uk | Часткова делеція довгого плеча хромосоми 8 | Часткова делеція хромосоми 8q · Часткова моносомія хромосоми 8q · Часткова моносомія довгого плеча хромосоми 8 |
| zh | 8号染色体长臂部分缺失 | 8号染色体长臂部分单体 |
| tr | 8. kromozomun uzun kolunun kısmi delesyonu | 8q kromozomunun kısmi delesyonu · 8q kromozomunun kısmi monozomisi · 8. kromozomun uzun kolunun kısmi monozomisi |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-11 | LD44.80 | E | specific | validated |
| MONDO | 0016907 | E | validated | |
| MONDO | 16907 | E | validated | |
| MeSH | C537828 | E | validated | |
| UMLS | C0795828 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:261801Partial deletion of chromosome 8 syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases
4
Genes
0 directOrphanet records no gene directly on this code.
5
Prevalence and incidence
0 recordsNo prevalence record in this release.
6
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/262065
- This record as JSON: /data/d/262065.json