Congenital diaphragmatic hernia
General Information (adopted from Orphanet):
| Synonyms, Signs: |
CDH Diaphragmatic agenesia |
| Number of Symptoms | 3 |
| OrphanetNr: | 2140 |
| OMIM Id: |
142340
222400 306950 610187 |
| ICD-10: |
Q79.0 |
| UMLs: |
C0235833 |
| MeSH: |
C538080 |
| MedDRA: |
10010439 |
| Snomed: |
17190001 |
Prevalence, inheritance and age of onset:
| Prevalence: | 21.2 of 100 000 [Orphanet] |
| Inheritance: |
Multifactorial Not applicable [Orphanet] |
| Age of onset: |
Neonatal [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Nonsyndromic diaphragmatic or abdominal wall malformation
-Rare abdominal surgical disease -Rare developmental defect during embryogenesis Nonsyndromic diaphragmatic or thoracic malformation -Rare surgical thoracic disease Rare pulmonary disease -Rare respiratory disease |
Symptom Information:
|
|
(HPO:0000776) | Congenital diaphragmatic hernia | 36 / 7739 | ||||
|
|
(HPO:0000775) | Abnormality of the diaphragm | Very frequent [Orphanet] | 62 / 7739 | |||
|
|
(HPO:0001426) | Multifactorial inheritance | 37 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|