Ventricular septal defect
General Information (adopted from Orphanet):
| Synonyms, Signs: |
VSD Interventricular communication |
| Number of Symptoms | 4 |
| OrphanetNr: | 1480 |
| OMIM Id: |
614429
614431 614432 |
| ICD-10: |
Q21.0 |
| UMLs: |
C0018818 |
| MeSH: |
D006345 |
| MedDRA: |
10047298 |
| Snomed: |
30288003 |
Prevalence, inheritance and age of onset:
| Prevalence: | No data available. |
| Inheritance: |
Not applicable [Orphanet] |
| Age of onset: |
Antenatal Neonatal [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Congenital heart malformation
-Rare developmental defect during embryogenesis Genetic cardiac anomaly -Rare genetic disease |
Symptom Information:
|
|
(HPO:0001642) | Pulmonic stenosis | rare [HPO:skoehler] | 89 / 7739 | |||
|
|
(HPO:0001629) | Ventricular septal defect | 316 / 7739 | ||||
|
|
(HPO:0001631) | Atria septal defect | rare [HPO:skoehler] | 274 / 7739 | |||
|
|
(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|