ORPHA:282124
Partial deletion of chromosome 12 syndrome
Synonyms: Partial monosomy of chromosome 12
- 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 chromosome 12 syndrome | Partial monosomy of chromosome 12 |
| fr | Syndrome de délétion partielle du chromosome 12 | Monosomie partielle du chromosome 12 |
| de | Chromosom 12, partielle Deletion | Chromosom 12, partielle Monosomie |
| es | Síndrome de deleción parcial del cromosoma 12 | Monosomía parcial del cromosoma 12 |
| it | Sindrome delezione parziale del cromosoma 12 | Monosomia parziale del cromosoma 12 |
| nl | Partiële deletie van chromosoom 12-syndroom | Partiële monosomie van chromosoom 12 |
| pt | Deleção parcial do cromossoma 12 | Monossomia parcial do cromossoma 12 |
| pl | Zespół częściowej delecji chromosomu 12 | Częściowa monosomia chromosomu 12 |
| cs | Částečná delece chromozomu 12 | Částečná monozomie chromozomu 12 |
| uk | Часткова делеція хромосоми 12 | Часткова моносомія хромосоми 12 |
| zh | 12号染色体部分缺失 | 12号染色体部分单体 |
| tr | 12. kromozomun kısmi delesyonu | 12. kromozomun kısmi monozomisi |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| MONDO | 0017277 | E | validated | |
| MONDO | 17277 | E | validated | |
| UMLS | C5680422 | 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:98142Partial autosomal deletion 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.
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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/282124
- This record as JSON: /data/d/282124.json