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Congenital diaphragmatic hernia

Disease 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.


Classification level: Disorder
  • Synonym(s):
    • CDH
  • Prevalence: Unknown
  • Inheritance: Multigenic/multifactorial or Not applicable 
  • Age of onset: Neonatal
  • ICD-10: Q79.0
  • ICD-11: LB00.0
  • OMIM: 142340  222400  306950  610187
  • UMLS: C0235833
  • MeSH: C538080
  • GARD: 1481
  • MedDRA: 10010439

Detailed information


Disease review articles

ERN : produced/endorsed by ERN(s)
FSMR : produced/endorsed by FSMR(s)
The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.