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. |
3290 |
4. Check minimum number of eventsNone |
3290 |
5. Include endpoints
|
3290 |
6. Filter based on genotype QC (FinnGen only) |
3138 |
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
Aliae malformationes congenitae
Similar endpoints
↥List of similar endpoints to
Other congenital malformations
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 | 36015 | 21253 | 14666 |
| Only index persons | 29245 | 17832 | 11413 |
| Unadjusted period prevalence (%) | |||
| Whole population | 0.53 | 0.61 | 0.41 |
| Only index persons | 0.57 | 0.66 | 0.44 |
| Median age at first event (years) | |||
| Whole population | 17.09 | 21.53 | 10.53 |
| Only index persons | 22.14 | 26.49 | 15.34 |
-FinnGen-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | 3138 | 2157 | 981 |
| Unadjusted period prevalence (%) | 0.74 | 0.85 | 0.49 |
| Median age at first event (years) | 36.68 | 35.26 | 39.81 |
-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_OTHER_CONGEN_MALFO and mortality.
Females
| Parameter | HR [95% CI] | p-value |
|---|---|---|
| Q17_OTHER_CONGEN_MALFO | 1.429 [1.25, 1.63] | < 0.001 |
| Birth year | 0.995 [0.99, 1.0] | 0.238 |
During the follow-up period (1.1.1998 — 31.12.2019), 949 out of 18511 females with Q17_OTHER_CONGEN_MALFO died.
Males
| Parameter | HR [95% CI] | p-value |
|---|---|---|
| Q17_OTHER_CONGEN_MALFO | 1.737 [1.53, 1.97] | < 0.001 |
| Birth year | 0.988 [0.98, 1.0] | 0.066 |
During the follow-up period (1.1.1998 — 31.12.2019), 1035 out of 12926 males with Q17_OTHER_CONGEN_MALFO died.
Mortality risk
Mortality risk for people of age
years, who have Q17_OTHER_CONGEN_MALFO.| N-year risk | Females | Males |
|---|---|---|
| 1 | 0.13% | 0.335% |
| 5 | 0.835% | 2.064% |
| 10 | 2.058% | 5.053% |
| 15 | 4.03% | 9.488% |
| 20 | 7.249% | 15.909% |
Relationships between endpoints
↥Index endpoint: Q17_OTHER_CONGEN_MALFO – Other congenital malformations
GWS hits: 3
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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