ORPHA:98127
Autosomal anomaly syndrome
- 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 | Autosomal anomaly syndrome | |
| fr | Syndrome d'anomalie des autosomes | |
| de | Autosomen-Anomalie | |
| es | Síndrome de anomalía autosómica | |
| it | Sindrome anomalia autosomica | |
| nl | Autosomale anomalie-syndroom | |
| pt | Anomalia autossómica | |
| pl | Zespół aberracji autosomalnej | |
| cs | Aberace autozomů | |
| uk | Аутосомна аномалія | |
| zh | 常染色体异常 | |
| tr | Otozomal anomali |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| MONDO | 0020049 | E | validated | |
| UMLS | C5681496 | 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:68335Rare chromosomal anomaly
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/98127
- This record as JSON: /data/d/98127.json