Diaphragmatic hernia


congenital diaphragmatic hernia: Congenital diaphragmatic hernia (CDH) is a posterolateral defect of the diaphragm that allows passage of abdominal viscera into the thorax, leading to respiratory insufficiency and persistent pulmonary hypertension with high mortality.

Endpoint definition

FinnGen phenotype data

356077 individuals

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Apply sex-specific rule None


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Check conditions None


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Filter registries

Hospital Discharge: ICD-10 K44
Hospital discharge: ICD-9 5513|5523|5533
Hospital discharge: ICD-8 5513
Cause of death: ICD-10 K44
Cause of death: ICD-9 5513|5523|5533
Cause of death: ICD-8 5513


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Check pre-conditions, main-only, mode, ICD version

Look only at ICD versions H.D: 10, 8, 9 ; C.O.D: 10, 8, 9


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Check minimum number of events None


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Include endpoints None


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Extra metadata

Level in the ICD hierarchy 3
First used in FinnGen datafreeze DF2
Parent code in ICD-10 K40-K46
Name in latin Hernia diaphragmatica

Summary Statistics

Key figures

All Female Male
Number of individuals 10634 6267 4367
Unadjusted prevalence (%) 2.99 3.16 2.77
Mean age at first event (years) 60.13 59.67 60.78


Follow-up Absolute risk HR [95% CI] p N
1998–2019 0.04 2.50 [2.03, 3.09] 1.5e-17 1210
15 years 0.01 1.42 [1.18, 1.69] 1.3e-4 523
5 years 0.00 2.83 [2.41, 3.33] 1.0e-36 394
1 year 0.00 5.64 [4.58, 6.93] 1.9e-60 155

Age distribution of first events

Year distribution of first events

Cumulative Incidence


Index endpoint: K11_DIAHER – Diaphragmatic hernia
GWS hits: 7

Survival analyses between endpoints


before Diaphragmatic hernia
after Diaphragmatic hernia

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Drugs most likely to be purchased after Diaphragmatic hernia