No definition available.
Congenital malformations of genital organs
EFO MESH Endpoint Browser PheWeb
Q17_CONGEN_MALFO_GENITAL_ORGANS
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. |
3777 |
4. Check minimum number of eventsNone |
3777 |
5. Include endpoints |
3777 |
6. Filter based on genotype QC (FinnGen only) |
3580 |
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 organorum genitalium
Similar endpoints
↥List of similar endpoints to
Congenital malformations of genital organs
based on the number of shared cases.
Similar with more cases:
- Congenital malformations, deformations and chromosomal abnormalities
- Any event in hilmo or specialist outpatient
Similar with less cases:
Case counts by codes
↥
Summary Statistics
↥-FinRegistry-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | |||
| Whole population | 53784 | 22724 | 30885 |
| Only index persons | 42811 | 21840 | 20971 |
| Unadjusted period prevalence (%) | |||
| Whole population | 0.77 | 0.65 | 0.86 |
| Only index persons | 0.80 | 0.80 | 0.80 |
| Median age at first event (years) | |||
| Whole population | 15.02 | 32.36 | 2.16 |
| Only index persons | 18.73 | 32.71 | 4.17 |
-FinnGen-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | 3580 | 2962 | 618 |
| Unadjusted period prevalence (%) | 1.02 | 1.16 | 0.31 |
| Median age at first event (years) | 30.33 | 34.80 | 8.94 |
-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_GENITAL_ORGANS and mortality.
Females
| Parameter | HR [95% CI] | p-value |
|---|---|---|
| Q17_CONGEN_MALFO_GENITAL_ORGANS | 0.96 [0.84, 1.1] | 0.559 |
| Birth year | 0.995 [0.99, 1.0] | 0.328 |
During the follow-up period (1.1.1998 — 31.12.2019), 571 out of 19855 females with Q17_CONGEN_MALFO_GENITAL_ORGANS died.
Males
| Parameter | HR [95% CI] | p-value |
|---|---|---|
| Q17_CONGEN_MALFO_GENITAL_ORGANS | 1.329 [1.07, 1.64] | 0.009 |
| Birth year | 0.988 [0.98, 1.0] | 0.012 |
During the follow-up period (1.1.1998 — 31.12.2019), 353 out of 27276 males with Q17_CONGEN_MALFO_GENITAL_ORGANS died.
Mortality risk
Mortality risk for people of age
years, who have Q17_CONGEN_MALFO_GENITAL_ORGANS.| N-year risk | Females | Males |
|---|---|---|
| 1 | 0.096% | 0.231% |
| 5 | 0.49% | 1.443% |
| 10 | 1.302% | 3.764% |
| 15 | 2.639% | 7.444% |
| 20 | 4.598% | 12.579% |
Relationships between endpoints
↥Index endpoint: Q17_CONGEN_MALFO_GENITAL_ORGANS – Congenital malformations of genital organs
GWS hits: -
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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