ORPHA:102020
Autosomal monosomy syndrome
Synonyms: Autosomal deletion
- 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 | Autosomal monosomy syndrome | Autosomal deletion |
| fr | Syndrome de monosomies des autosomes | Délétions des autosomes |
| de | Monosomie, autosomale | Autosomale Deletion |
| es | Síndrome de monosomía autosómica | Deleción autosómica |
| it | Sindrome monosomia autosomica | Delezione autosomica |
| nl | Autosomale monosomie-syndroom | Autosomale deletie |
| pt | Monossomia autossómica | |
| pl | Zespół monosomii autosomalnej | Delecja autosomalna |
| cs | Monozomie autozomů | Delece autozomů |
| uk | Аутосомна моносомія | Аутосомна делеція |
| zh | 常染色体单体 | 常染色体缺失 |
| tr | Otozomal monozomi | Otozomal delesyon |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-11 | LD43 | BTNT | specific | validated |
| ICD-11 | LD44 | BTNT | specific | validated |
| MONDO | 15153 | E | validated | |
| UMLS | C0026499 | 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:98127Autosomal anomaly syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases
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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.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/102020
- This record as JSON: /data/d/102020.json