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. |
162 |
4. Check minimum number of eventsNone |
162 |
5. Include endpointsNone |
162 |
6. Filter based on genotype QC (FinnGen only) |
151 |
Control definitions (FinnGen only)
Control exclude
Q17_CONGEN_MALFO_NERVOUS_SYSTEM
Extra metadata
Level in the ICD hierarchy
3
First used in FinnGen datafreeze
DF4
Parent code in ICD-10
Q0
Name in latin
Aliae malformationes congenitae encephali
Similar endpoints
↥List of similar endpoints to
Other congenital malformations of brain
based on the number of shared cases.
Similar with more cases:
- Congenital malformations of the nervous 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 | 2987 | 1324 | 1657 |
| Only index persons | 2131 | 981 | 1150 |
| Unadjusted period prevalence (%) | |||
| Whole population | 0.04 | 0.04 | 0.05 |
| Only index persons | 0.04 | 0.04 | 0.04 |
| Median age at first event (years) | |||
| Whole population | 5.21 | 6.59 | 3.95 |
| Only index persons | 9.59 | 12.95 | 6.73 |
-FinnGen-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | 151 | 81 | 70 |
| Unadjusted period prevalence (%) | 0.03 | 0.03 | 0.04 |
| Median age at first event (years) | 26.79 | 25.79 | 27.95 |
-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_BRAIN and mortality.
Females
| Parameter | HR [95% CI] | p-value |
|---|---|---|
| Q17_OTHER_CONGEN_MALFO_BRAIN | 4.599 [3.29, 6.44] | < 0.001 |
| Birth year | 0.992 [0.98, 1.0] | 0.067 |
During the follow-up period (1.1.1998 — 31.12.2019), 86 out of 1102 females with Q17_OTHER_CONGEN_MALFO_BRAIN died.
Males
| Parameter | HR [95% CI] | p-value |
|---|---|---|
| Q17_OTHER_CONGEN_MALFO_BRAIN | 3.755 [2.72, 5.18] | < 0.001 |
| Birth year | 0.989 [0.98, 1.0] | 0.018 |
During the follow-up period (1.1.1998 — 31.12.2019), 103 out of 1405 males with Q17_OTHER_CONGEN_MALFO_BRAIN died.
Mortality risk
Mortality risk for people of age
years, who have Q17_OTHER_CONGEN_MALFO_BRAIN.| N-year risk | Females | Males |
|---|---|---|
| 1 | 0.47% | 0.765% |
| 5 | 2.279% | 4.579% |
| 10 | 5.364% | 10.956% |
| 15 | 10.385% | 19.83% |
| 20 | 18.528% | 32.143% |
Relationships between endpoints
↥Index endpoint: Q17_OTHER_CONGEN_MALFO_BRAIN – Other congenital malformations of brain
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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