No definition available.
Other congenital malformations of heart
DOID EFO Endpoint Browser PheWeb
Q17_OTHER_CONGEN_MALFO_HEART
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. |
223 |
4. Check minimum number of eventsNone |
223 |
5. Include endpointsNone |
223 |
6. Filter based on genotype QC (FinnGen only) |
206 |
Control definitions (FinnGen only)
Control exclude
Q17_CONGEN_MALFO_CIRCULATO_SYSTEM
Extra metadata
Level in the ICD hierarchy
3
First used in FinnGen datafreeze
DF4
Parent code in ICD-10
Q2
Name in latin
Aliae malformationes congenitae cordis
Similar endpoints
↥List of similar endpoints to
Other congenital malformations of heart
based on the number of shared cases.
Similar with more cases:
- Congenital malformations of heart and great arteries
- Congenital malformations of the circulatory system
- Vertebral, anorectal, cardiavascular, thracheoesophagial, renal and limb anomaly
- Congenital malformations, deformations and chromosomal abnormalities
- Any operation in hilmo
Similar with less cases:
None
Case counts by codes
↥
Summary Statistics
↥-FinRegistry-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | |||
| Whole population | 2325 | 1187 | 1135 |
| Only index persons | 1745 | 915 | 830 |
| Unadjusted period prevalence (%) | |||
| Whole population | 0.03 | 0.03 | 0.03 |
| Only index persons | 0.03 | 0.03 | 0.03 |
| Median age at first event (years) | |||
| Whole population | 10.16 | 13.47 | 6.64 |
| Only index persons | 16.61 | 21.73 | 10.97 |
-FinnGen-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | 206 | 122 | 84 |
| Unadjusted period prevalence (%) | 0.05 | 0.05 | 0.04 |
| Median age at first event (years) | 19.68 | 23.45 | 14.20 |
-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
No data
Mortality – FinRegistry
↥Association
Association between endpoint Q17_OTHER_CONGEN_MALFO_HEART and mortality.
Females
| Parameter | HR [95% CI] | p-value |
|---|---|---|
| Q17_OTHER_CONGEN_MALFO_HEART | 2.577 [1.84, 3.61] | < 0.001 |
| Birth year | 0.998 [0.99, 1.01] | 0.577 |
During the follow-up period (1.1.1998 — 31.12.2019), 73 out of 1004 females with Q17_OTHER_CONGEN_MALFO_HEART died.
Males
| Parameter | HR [95% CI] | p-value |
|---|---|---|
| Q17_OTHER_CONGEN_MALFO_HEART | 2.584 [1.86, 3.59] | < 0.001 |
| Birth year | 0.985 [0.98, 0.99] | 0.002 |
During the follow-up period (1.1.1998 — 31.12.2019), 71 out of 936 males with Q17_OTHER_CONGEN_MALFO_HEART died.
Mortality risk
Mortality risk for people of age
years, who have Q17_OTHER_CONGEN_MALFO_HEART.| N-year risk | Females | Males |
|---|---|---|
| 1 | 0.232% | 0.548% |
| 5 | 1.526% | 2.633% |
| 10 | 3.708% | 6.778% |
| 15 | 7.36% | 13.206% |
| 20 | 13.075% | 20.453% |
Relationships between endpoints
↥Index endpoint: Q17_OTHER_CONGEN_MALFO_HEART – Other congenital malformations of heart
GWS hits: 1
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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