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Diaphragmatic hernia

DOID EFO Endpoint Browser PheWeb

K11_DIAHER

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.

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Endpoint definition

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Endpoint definition steps

FinnGen

Phenotype data

429209

1. Apply sex-specific rule

None

429209

2. Check conditions

None

429209

3. Check pre-conditions, main-only, mode, registry filters

Registry filters:

  • 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

2 out of 7 registries used, show all original rules.

13361

4. Check minimum number of events

None

13361

5. Include endpoints

None

13361

6. Filter based on genotype QC (FinnGen only)

12886

Control definitions (FinnGen only)

Control exclude K11_HERNIA

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

Case counts by codes

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FinnGen case counts by registry codes:

generic upset plot

Upset plot

Full data table

Summary Statistics

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-FinRegistry-

Key figures

All Female Male
Number of individuals
Whole population 105109 60193 44272
Only index persons 95076 55623 39453
Unadjusted period prevalence (%)
Whole population 1.51 1.72 1.24
Only index persons 1.82 2.04 1.51
Median age at first event (years)
Whole population 62.99 65.04 60.27
Only index persons 62.73 64.67 59.99

-FinnGen-

Key figures

All Female Male
Number of individuals 12886 7650 5236
Unadjusted period prevalence (%) 3.14 3.32 2.88
Median age at first event (years) 62.02 61.32 63.05

-FinRegistry-

Age distribution of first events

-FinnGen-

Age distribution of first events

-FinRegistry-

Year distribution of first events

-FinnGen-

Year distribution of first events

-FinRegistry-

Cumulative Incidence Function

-FinnGen-

Cumulative Incidence Function

Mortality – FinRegistry

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Relationships between endpoints

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Index endpoint: K11_DIAHER – Diaphragmatic hernia

GWS hits: 10

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