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
↥
Endpoint definition steps |
FinnGen |
|---|---|
Phenotype data |
473681 |
1. Apply sex-specific ruleNone |
473681 |
2. Check conditionsNone |
473681 |
3. Check pre-conditions, main-only, mode, registry filtersRegistry filters:
2 out of 7 registries used, show all original rules. |
14844 |
4. Check minimum number of eventsNone |
14844 |
5. Include endpointsNone |
14844 |
6. Filter based on genotype QC (FinnGen only) |
14282 |
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
Diaphragmatic hernia
based on the number of shared cases.
Similar with more cases:
Similar with less cases:
Summary Statistics
↥-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 | 14282 | 8541 | 5741 |
| Unadjusted period prevalence (%) | 3.17 | 3.35 | 2.88 |
| Median age at first event (years) | 62.16 | 61.57 | 63.04 |
-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
↥Association
Association between endpoint K11_DIAHER and mortality.
Females
| Parameter | HR [95% CI] | p-value |
|---|---|---|
| K11_DIAHER | 1.257 [1.16, 1.37] | < 0.001 |
| Birth year | 0.996 [0.99, 1.0] | 0.362 |
During the follow-up period (1.1.1998 — 31.12.2019), 10622 out of 48806 females with K11_DIAHER died.
Males
| Parameter | HR [95% CI] | p-value |
|---|---|---|
| K11_DIAHER | 1.397 [1.28, 1.53] | < 0.001 |
| Birth year | 0.985 [0.98, 0.99] | 0.001 |
During the follow-up period (1.1.1998 — 31.12.2019), 9216 out of 35520 males with K11_DIAHER died.
Mortality risk
Mortality risk for people of age
years, who have K11_DIAHER.| N-year risk | Females | Males |
|---|---|---|
| 1 | 0.143% | 0.239% |
| 5 | 0.684% | 1.44% |
| 10 | 1.827% | 3.74% |
| 15 | 3.456% | 6.684% |
| 20 | 6.173% | 11.637% |
Relationships between endpoints
↥Index endpoint: K11_DIAHER – Diaphragmatic hernia
GWS hits: 10
Endpoint
Case Overlap
Survival Analysis
Genetic Correlations
Genetic Signals
N (Jaccard index)
HR [CI]
Extremity
rg [CI]
Extremity
Hits
Coloc Hits
FinRegistry
FinnGen
FinRegistry
FinnGen
FinnGen
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