intestinal perforation: Opening or penetration through the wall of the INTESTINES.
Other congenital malformations of intestine
DOID EFO Endpoint Browser PheWeb
Q17_OTHER_CONGEN_MALFO_INTESTINE
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. |
283 |
4. Check minimum number of eventsNone |
283 |
5. Include endpointsNone |
283 |
6. Filter based on genotype QC (FinnGen only) |
270 |
Control definitions (FinnGen only)
Control exclude
Q17_OTHER_CONGEN_MALFO_DIGES_SYSTEM1
Extra metadata
Level in the ICD hierarchy
3
First used in FinnGen datafreeze
DF4
Parent code in ICD-10
Q3[8-9]|Q4[0-5]
Name in latin
Aliae malformationes congenitae intestini
Similar endpoints
↥List of similar endpoints to
Other congenital malformations of intestine
based on the number of shared cases.
Similar with more cases:
- Other congenital malformations of the digestive 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 | 3727 | 1773 | 1940 |
| Only index persons | 3073 | 1448 | 1625 |
| Unadjusted period prevalence (%) | |||
| Whole population | 0.05 | 0.05 | 0.05 |
| Only index persons | 0.06 | 0.05 | 0.06 |
| Median age at first event (years) | |||
| Whole population | 16.48 | 14.08 | 18.30 |
| Only index persons | 23.09 | 22.17 | 23.91 |
-FinnGen-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | 270 | 141 | 129 |
| Unadjusted period prevalence (%) | 0.06 | 0.06 | 0.06 |
| Median age at first event (years) | 45.51 | 42.46 | 48.84 |
-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
No data
Mortality – FinRegistry
↥Association
Association between endpoint Q17_OTHER_CONGEN_MALFO_INTESTINE and mortality.
Females
| Parameter | HR [95% CI] | p-value |
|---|---|---|
| Q17_OTHER_CONGEN_MALFO_INTESTINE | 1.262 [1.0, 1.59] | 0.047 |
| Birth year | 0.992 [0.98, 1.0] | 0.057 |
During the follow-up period (1.1.1998 — 31.12.2019), 156 out of 1498 females with Q17_OTHER_CONGEN_MALFO_INTESTINE died.
Males
| Parameter | HR [95% CI] | p-value |
|---|---|---|
| Q17_OTHER_CONGEN_MALFO_INTESTINE | 1.574 [1.26, 1.97] | < 0.001 |
| Birth year | 0.99 [0.98, 1.0] | 0.035 |
During the follow-up period (1.1.1998 — 31.12.2019), 193 out of 1619 males with Q17_OTHER_CONGEN_MALFO_INTESTINE died.
Mortality risk
Mortality risk for people of age
years, who have Q17_OTHER_CONGEN_MALFO_INTESTINE.| N-year risk | Females | Males |
|---|---|---|
| 1 | 0.114% | 0.398% |
| 5 | 0.63% | 2.107% |
| 10 | 1.673% | 5.054% |
| 15 | 3.275% | 9.363% |
| 20 | 5.698% | 15.628% |
Relationships between endpoints
↥Index endpoint: Q17_OTHER_CONGEN_MALFO_INTESTINE – Other congenital malformations of intestine
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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