No definition available.
Congenital malformations of the urinary system
DOID EFO Endpoint Browser PheWeb
Q17_CONGEN_MALFO_URINARY_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. |
2018 |
4. Check minimum number of eventsNone |
2018 |
5. Include endpoints |
2018 |
6. Filter based on genotype QC (FinnGen only) |
1917 |
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 urinarii
Similar endpoints
↥List of similar endpoints to
Congenital malformations of the urinary system
based on the number of shared cases.
Similar with more cases:
- Vertebral, anorectal, cardiavascular, thracheoesophagial, renal and limb anomaly
- Congenital malformations, deformations and chromosomal abnormalities
Similar with less cases:
Case counts by codes
↥
Summary Statistics
↥-FinRegistry-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | |||
| Whole population | 21532 | 10374 | 11073 |
| Only index persons | 17232 | 8717 | 8515 |
| Unadjusted period prevalence (%) | |||
| Whole population | 0.30 | 0.30 | 0.31 |
| Only index persons | 0.32 | 0.32 | 0.33 |
| Median age at first event (years) | |||
| Whole population | 10.78 | 13.01 | 8.35 |
| Only index persons | 17.82 | 20.27 | 15.30 |
-FinnGen-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | 1917 | 1077 | 840 |
| Unadjusted period prevalence (%) | 0.42 | 0.42 | 0.42 |
| Median age at first event (years) | 45.19 | 42.83 | 48.21 |
-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_URINARY_SYSTEM and mortality.
Females
| Parameter | HR [95% CI] | p-value |
|---|---|---|
| Q17_CONGEN_MALFO_URINARY_SYSTEM | 1.773 [1.55, 2.03] | < 0.001 |
| Birth year | 0.995 [0.99, 1.0] | 0.247 |
During the follow-up period (1.1.1998 — 31.12.2019), 795 out of 8753 females with Q17_CONGEN_MALFO_URINARY_SYSTEM died.
Males
| Parameter | HR [95% CI] | p-value |
|---|---|---|
| Q17_CONGEN_MALFO_URINARY_SYSTEM | 1.839 [1.61, 2.1] | < 0.001 |
| Birth year | 0.988 [0.98, 1.0] | 0.022 |
During the follow-up period (1.1.1998 — 31.12.2019), 1011 out of 9383 males with Q17_CONGEN_MALFO_URINARY_SYSTEM died.
Mortality risk
Mortality risk for people of age
years, who have Q17_CONGEN_MALFO_URINARY_SYSTEM.| N-year risk | Females | Males |
|---|---|---|
| 1 | 0.19% | 0.363% |
| 5 | 1.144% | 2.301% |
| 10 | 2.597% | 5.326% |
| 15 | 4.889% | 10.114% |
| 20 | 8.765% | 17.494% |
Relationships between endpoints
↥Index endpoint: Q17_CONGEN_MALFO_URINARY_SYSTEM – Congenital malformations of the urinary system
GWS hits: 9
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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