ORPHA:363203
Ring chromosome 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 | Ring chromosome syndrome | |
| fr | Syndrome de chromosome en anneau | |
| de | Ringchromosom | |
| es | Síndrome de cromosoma en anillo | |
| it | Sindrome cromosoma ad anello | |
| nl | Ringchromosoom-syndroom | |
| pt | Cromossoma em anel | |
| pl | Zespół chromosomu pierścieniowego | |
| cs | Ring chromozom | |
| uk | Кільцева хромосома | |
| zh | 环状染色体 | |
| tr | Halka kromozomu |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| MONDO | 18186 | E | validated | |
| MeSH | D012303 | E | validated | |
| UMLS | C0035639 | E | validated | |
| MedDRA | 10081894 | 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
Children (22):
- ORPHA:1437Ring chromosome 1 syndrome
- ORPHA:1438Ring chromosome 10 syndrome
- ORPHA:96175Ring chromosome 11 syndrome
- ORPHA:1439Ring chromosome 12 syndrome
- ORPHA:96176Ring chromosome 13 syndrome
- ORPHA:1440Ring chromosome 14 syndrome
- ORPHA:96177Ring chromosome 15 syndrome
- ORPHA:96178Ring chromosome 16 syndrome
- ORPHA:1441Ring chromosome 17 syndrome
- ORPHA:1442Ring chromosome 18 syndrome
- ORPHA:1443Ring chromosome 19 syndrome
- ORPHA:96171Ring chromosome 2 syndrome
- ORPHA:1444Ring chromosome 20 syndrome
- ORPHA:1445Ring chromosome 21 syndrome
- ORPHA:1446Ring chromosome 22 syndrome
- ORPHA:96172Ring chromosome 3 syndrome
- ORPHA:1447Ring chromosome 4 syndrome
- ORPHA:251043Ring chromosome 5 syndrome
- ORPHA:1448Ring chromosome 6 syndrome
- ORPHA:1449Ring chromosome 7 syndrome
- ORPHA:1450Ring chromosome 8 syndrome
- ORPHA:96173Ring chromosome 9 syndrome
4
Genes
0 directOrphanet records no gene directly on this code.
5
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Prevalence at birth | 1-9 / 100 000 | 2 / 100 000 | Worldwide | Value and class | Validated | 1175321[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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/363203
- This record as JSON: /data/d/363203.json