No definition available.
Congenital malformations of the circulatory system
DOID EFO Endpoint Browser PheWeb
Q17_CONGEN_MALFO_CIRCULATO_SYSTEM
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. |
5417 |
4. Check minimum number of eventsNone |
5417 |
5. Include endpoints
|
5518 |
6. Filter based on genotype QC (FinnGen only) |
5282 |
Control definitions (FinnGen only)
Controls for this endpoint are individuals that are not cases.
Extra metadata
Level in the ICD hierarchy
2
First used in FinnGen datafreeze
DF4
Parent code in ICD-10
Q
Name in latin
Malformationes congenitae systematis circulatorii
Congenital malformations of the circulatory system
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 | 67904 | 34160 | 33569 |
| Only index persons | 48626 | 24424 | 24202 |
| Unadjusted period prevalence (%) | |||
| Whole population | 0.96 | 0.98 | 0.94 |
| Only index persons | 0.91 | 0.90 | 0.92 |
| Median age at first event (years) | |||
| Whole population | 4.83 | 4.35 | 5.11 |
| Only index persons | 16.90 | 17.34 | 16.45 |
-FinnGen-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | 5282 | 2786 | 2496 |
| Unadjusted period prevalence (%) | 1.17 | 1.09 | 1.25 |
| Median age at first event (years) | 44.95 | 40.59 | 49.83 |
-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 Q17_CONGEN_MALFO_CIRCULATO_SYSTEM and mortality.
Females
| Parameter | HR [95% CI] | p-value |
|---|---|---|
| Q17_CONGEN_MALFO_CIRCULATO_SYSTEM | 1.932 [1.68, 2.22] | < 0.001 |
| Birth year | 0.99 [0.98, 1.0] | 0.025 |
During the follow-up period (1.1.1998 — 31.12.2019), 1526 out of 29516 females with Q17_CONGEN_MALFO_CIRCULATO_SYSTEM died.
Males
| Parameter | HR [95% CI] | p-value |
|---|---|---|
| Q17_CONGEN_MALFO_CIRCULATO_SYSTEM | 1.689 [1.46, 1.95] | < 0.001 |
| Birth year | 0.985 [0.98, 0.99] | 0.001 |
During the follow-up period (1.1.1998 — 31.12.2019), 1702 out of 28904 males with Q17_CONGEN_MALFO_CIRCULATO_SYSTEM died.
Mortality risk
Mortality risk for people of age
years, who have Q17_CONGEN_MALFO_CIRCULATO_SYSTEM.| N-year risk | Females | Males |
|---|---|---|
| 1 | 0.146% | 0.286% |
| 5 | 0.941% | 1.842% |
| 10 | 2.405% | 4.59% |
| 15 | 4.765% | 8.55% |
| 20 | 8.324% | 14.633% |
Relationships between endpoints
↥Index endpoint: Q17_CONGEN_MALFO_CIRCULATO_SYSTEM – Congenital malformations of the circulatory system
GWS hits: 2
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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