Congenital pulmonary veins atresia or stenosis
General Information (adopted from Orphanet):
| Synonyms, Signs: |
|
| Number of Symptoms | 4 |
| OrphanetNr: | 3188 |
| OMIM Id: |
|
| ICD-10: |
Q26.8 |
| UMLs: |
C0265915 C0344679 |
| MeSH: |
|
| MedDRA: |
|
| Snomed: |
11614003 204467000 |
Prevalence, inheritance and age of onset:
| Prevalence: | No data available. |
| Inheritance: |
Not applicable [Orphanet] |
| Age of onset: |
Childhood [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Congenital great vessels anomaly
-Rare developmental defect during embryogenesis |
Symptom Information:
|
|
(HPO:0030680) | Abnormality of cardiovascular system morphology | Frequent [Orphanet] | 355 / 7739 | |||
|
|
(HPO:0004760) | Congenital septal defect | Occasional [Orphanet] | 69 / 7739 | |||
|
|
(HPO:0000822) | Hypertension | Very frequent [Orphanet] | 224 / 7739 | |||
|
|
(HPO:0002093) | Respiratory insufficiency | Frequent [Orphanet] | 410 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|