loading...| Preferred Name |
Congenital diaphragmatic hernia |
|
| Synonyms |
CDH |
|
| Definitions |
A rare developmental defect during embryogenesis which can be a non-syndromic (70%) or syndromic (30%) diaphragmatic malformation characterized by a posterolateral defect of the diaphragm that allows passage of abdominal viscera into the thorax, leading to respiratory insufficiency and persistent pulmonary hypertension. |
|
| ID |
http://www.orpha.net/ORDO/Orphanet_2140 |
|
| alternative_term |
CDH |
|
| definition |
A rare developmental defect during embryogenesis which can be a non-syndromic (70%) or syndromic (30%) diaphragmatic malformation characterized by a posterolateral defect of the diaphragm that allows passage of abdominal viscera into the thorax, leading to respiratory insufficiency and persistent pulmonary hypertension. |
|
| definition_citation |
Orphanet |
|
| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2140 |
|
| has_age_of_onset |
Neonatal |
|
| has_inheritance |
Not applicable Multigenic/multifactorial |
|
| hasDbXref |
ICD-11:LB00.0 OMIM:222400 OMIM:142340 ICD-10:Q79.0 OMIM:306950 MedDRA:10010439 OMIM:610187 UMLS:C0235833 MeSH:D065630 |
|
| label |
Congenital diaphragmatic hernia |
|
| notation |
ORPHA:2140 |
|
| part_of |
http://www.orpha.net/ORDO/Orphanet_180776 |
|
| prefixIRI |
ORDO:Orphanet_2140 |
|
| prefLabel |
Congenital diaphragmatic hernia |
|
| present_in |
Italy AND has_birth_prevalence_average_value : 22.6 AND has_birth_prevalence_range : 1-5 / 10 000 Portugal AND has_birth_prevalence_average_value : 18.9 AND has_birth_prevalence_range : 1-5 / 10 000 Poland AND has_birth_prevalence_average_value : 8.2 AND has_birth_prevalence_range : 1-9 / 100 000 Hungary AND has_birth_prevalence_average_value : 23.2 AND has_birth_prevalence_range : 1-5 / 10 000 United Kingdom AND has_birth_prevalence_average_value : 19.7 AND has_birth_prevalence_range : 1-5 / 10 000 Denmark AND has_birth_prevalence_average_value : 19.8 AND has_birth_prevalence_range : 1-5 / 10 000 Ukraine AND has_birth_prevalence_average_value : 22.3 AND has_birth_prevalence_range : 1-5 / 10 000 Germany AND has_birth_prevalence_average_value : 5.9 AND has_birth_prevalence_range : 1-9 / 100 000 Croatia AND has_birth_prevalence_average_value : 11.4 AND has_birth_prevalence_range : 1-5 / 10 000 France AND has_birth_prevalence_average_value : 23.6 AND has_birth_prevalence_range : 1-5 / 10 000 Austria AND has_birth_prevalence_average_value : 39.3 AND has_birth_prevalence_range : 1-5 / 10 000 Netherlands AND has_birth_prevalence_average_value : 29.2 AND has_birth_prevalence_range : 1-5 / 10 000 United States AND has_birth_prevalence_average_value : 33.0 AND has_birth_prevalence_range : 1-5 / 10 000 Ireland AND has_birth_prevalence_average_value : 21.7 AND has_birth_prevalence_range : 1-5 / 10 000 Belgium AND has_birth_prevalence_average_value : 14.6 AND has_birth_prevalence_range : 1-5 / 10 000 Europe AND has_birth_prevalence_average_value : 21.2 AND has_birth_prevalence_range : 1-5 / 10 000 Switzerland AND has_birth_prevalence_average_value : 38.9 AND has_birth_prevalence_range : 1-5 / 10 000 Worldwide AND has_birth_prevalence_average_value : 30.0 AND has_birth_prevalence_range : 1-5 / 10 000 Worldwide AND has_point_prevalence_range : Unknown Malta AND has_birth_prevalence_average_value : 49.8 AND has_birth_prevalence_range : 1-5 / 10 000 Spain AND has_birth_prevalence_average_value : 9.4 AND has_birth_prevalence_range : 1-9 / 100 000 Norway AND has_birth_prevalence_average_value : 22.9 AND has_birth_prevalence_range : 1-5 / 10 000 |
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| treeView |
http://www.orpha.net/ORDO/Orphanet_180776 |
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| subClassOf |