No definition available.
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. |
141 |
4. Check minimum number of eventsNone |
141 |
5. Include endpointsNone |
141 |
6. Filter based on genotype QC (FinnGen only) |
137 |
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
Malformationes congenitae oesophagi
Similar endpoints
↥List of similar endpoints to
Congenital malformations of oesophagus
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 operation in hilmo
- 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 | 1406 | 640 | 758 |
| Only index persons | 1057 | 489 | 568 |
| Unadjusted period prevalence (%) | |||
| Whole population | 0.02 | 0.02 | 0.02 |
| Only index persons | 0.02 | 0.02 | 0.02 |
| Median age at first event (years) | |||
| Whole population | 21.73 | 34.07 | 10.71 |
| Only index persons | 35.77 | 49.40 | 24.03 |
-FinnGen-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | 137 | 60 | 77 |
| Unadjusted period prevalence (%) | 0.03 | 0.02 | 0.04 |
| Median age at first event (years) | 58.66 | 56.05 | 60.70 |
-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_CONGEN_MALFO_OESOPHAGUS and mortality.
Females
| Parameter | HR [95% CI] | p-value |
|---|---|---|
| Q17_CONGEN_MALFO_OESOPHAGUS | 1.319 [0.99, 1.76] | 0.062 |
| Birth year | 0.992 [0.98, 1.0] | 0.098 |
During the follow-up period (1.1.1998 — 31.12.2019), 92 out of 492 females with Q17_CONGEN_MALFO_OESOPHAGUS died.
Males
| Parameter | HR [95% CI] | p-value |
|---|---|---|
| Q17_CONGEN_MALFO_OESOPHAGUS | 1.592 [1.12, 2.26] | 0.009 |
| Birth year | 0.988 [0.98, 1.0] | 0.033 |
During the follow-up period (1.1.1998 — 31.12.2019), 92 out of 579 males with Q17_CONGEN_MALFO_OESOPHAGUS died.
Mortality risk
Mortality risk for people of age
years, who have Q17_CONGEN_MALFO_OESOPHAGUS.| N-year risk | Females | Males |
|---|---|---|
| 1 | 0.147% | 0.364% |
| 5 | 0.706% | 2.122% |
| 10 | 1.784% | 5.113% |
| 15 | 3.469% | 8.932% |
| 20 | 6.047% | 14.384% |
Relationships between endpoints
↥Index endpoint: Q17_CONGEN_MALFO_OESOPHAGUS – Congenital malformations of oesophagus
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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