No definition available.
Congenital malformations of uterus and cervix
EFO MESH Endpoint Browser PheWeb
Q17_CONGEN_MALFO_UTERUS_CERVIX
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. |
744 |
4. Check minimum number of eventsNone |
744 |
5. Include endpointsNone |
744 |
6. Filter based on genotype QC (FinnGen only) |
705 |
Control definitions (FinnGen only)
Control exclude
Q17_CONGEN_MALFO_GENITAL_ORGANS
Extra metadata
Level in the ICD hierarchy
3
First used in FinnGen datafreeze
DF4
Parent code in ICD-10
Q5
Name in latin
Malformationes congenitae uteri et cervicis uteri
Similar endpoints
↥List of similar endpoints to
Congenital malformations of uterus and cervix
based on the number of shared cases.
Similar with more cases:
- Congenital malformations of genital organs
- Congenital malformations, deformations and chromosomal abnormalities
- Any event in hilmo or specialist outpatient
- Any prescribed medicine buy
Similar with less cases:
None
Case counts by codes
↥
Summary Statistics
↥-FinRegistry-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | |||
| Whole population | 5304 | 5186 | 50 |
| Only index persons | 5143 | 5101 | 42 |
| Unadjusted period prevalence (%) | |||
| Whole population | 0.15 | 0.15 | 0.00 |
| Only index persons | 0.19 | 0.19 | 0.00 |
| Median age at first event (years) | |||
| Whole population | 30.06 | 30.15 | 17.59 |
| Only index persons | 30.03 | 30.15 | 15.25 |
-FinnGen-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | 705 | 700 | 5 |
| Unadjusted period prevalence (%) | 0.27 | 0.27 | 0.00 |
| Median age at first event (years) | 31.52 | 31.39 | 50.00 |
-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_UTERUS_CERVIX and mortality.
Females
| Parameter | HR [95% CI] | p-value |
|---|---|---|
| Q17_CONGEN_MALFO_UTERUS_CERVIX | 0.857 [0.7, 1.06] | 0.146 |
| Birth year | 0.993 [0.98, 1.0] | 0.107 |
During the follow-up period (1.1.1998 — 31.12.2019), 91 out of 4397 females with Q17_CONGEN_MALFO_UTERUS_CERVIX died.
Males
No dataMortality risk
Mortality risk for people of age
years, who have Q17_CONGEN_MALFO_UTERUS_CERVIX.| N-year risk | Females | Males |
|---|---|---|
| 1 | 0.06% | No data |
| 5 | 0.441% | No data |
| 10 | 1.193% | No data |
| 15 | 2.174% | No data |
| 20 | 3.95% | No data |
Relationships between endpoints
↥Index endpoint: Q17_CONGEN_MALFO_UTERUS_CERVIX – Congenital malformations of uterus and cervix
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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