No definition available.
Congenital malformations of great arteries
DOID EFO Endpoint Browser PheWeb
Q17_CONGEN_MALFO_GREAT_ARTERIES
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. |
727 |
4. Check minimum number of eventsNone |
727 |
5. Include endpointsNone |
727 |
6. Filter based on genotype QC (FinnGen only) |
687 |
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
Malformationes congenitae arteriarum magnarum
Similar endpoints
↥List of similar endpoints to
Congenital malformations of great arteries
based on the number of shared cases.
Similar with more cases:
- Congenital malformations of heart and great arteries
- Congenital malformations of the circulatory system
- Congenital malformations, deformations and chromosomal abnormalities
- Any event in hilmo or specialist outpatient
Similar with less cases:
None
Case counts by codes
↥
Summary Statistics
↥-FinRegistry-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | |||
| Whole population | 11820 | 5910 | 5895 |
| Only index persons | 7116 | 3524 | 3592 |
| Unadjusted period prevalence (%) | |||
| Whole population | 0.17 | 0.17 | 0.16 |
| Only index persons | 0.13 | 0.13 | 0.14 |
| Median age at first event (years) | |||
| Whole population | 0.49 | 0.43 | 0.38 |
| Only index persons | 3.34 | 3.12 | 3.56 |
-FinnGen-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | 687 | 355 | 332 |
| Unadjusted period prevalence (%) | 0.15 | 0.14 | 0.17 |
| Median age at first event (years) | 13.12 | 12.31 | 13.99 |
-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_GREAT_ARTERIES and mortality.
Females
| Parameter | HR [95% CI] | p-value |
|---|---|---|
| Q17_CONGEN_MALFO_GREAT_ARTERIES | 3.101 [2.4, 4.0] | < 0.001 |
| Birth year | 0.997 [0.99, 1.01] | 0.421 |
During the follow-up period (1.1.1998 — 31.12.2019), 246 out of 5292 females with Q17_CONGEN_MALFO_GREAT_ARTERIES died.
Males
| Parameter | HR [95% CI] | p-value |
|---|---|---|
| Q17_CONGEN_MALFO_GREAT_ARTERIES | 2.705 [2.21, 3.31] | < 0.001 |
| Birth year | 0.985 [0.98, 0.99] | 0.003 |
During the follow-up period (1.1.1998 — 31.12.2019), 278 out of 5278 males with Q17_CONGEN_MALFO_GREAT_ARTERIES died.
Mortality risk
Mortality risk for people of age
years, who have Q17_CONGEN_MALFO_GREAT_ARTERIES.| N-year risk | Females | Males |
|---|---|---|
| 1 | 0.375% | 0.496% |
| 5 | 1.882% | 2.813% |
| 10 | 4.585% | 7.174% |
| 15 | 8.942% | 13.541% |
| 20 | 15.7% | 22.229% |
Relationships between endpoints
↥Index endpoint: Q17_CONGEN_MALFO_GREAT_ARTERIES – Congenital malformations of great arteries
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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