No definition available.
Congenital malformations of the nervous system
DOID EFO Endpoint Browser PheWeb
Q17_CONGEN_MALFO_NERVOUS_SYSTEM
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. |
705 |
4. Check minimum number of eventsNone |
705 |
5. Include endpoints |
765 |
6. Filter based on genotype QC (FinnGen only) |
727 |
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
Malformationes congenitae systematis nervosi
Similar endpoints
↥List of similar endpoints to
Congenital malformations of the nervous system
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 | 10956 | 5699 | 5233 |
| Only index persons | 8283 | 4517 | 3766 |
| Unadjusted period prevalence (%) | |||
| Whole population | 0.15 | 0.16 | 0.15 |
| Only index persons | 0.16 | 0.17 | 0.14 |
| Median age at first event (years) | |||
| Whole population | 10.11 | 14.17 | 5.54 |
| Only index persons | 14.66 | 19.57 | 8.77 |
-FinnGen-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | 727 | 495 | 232 |
| Unadjusted period prevalence (%) | 0.17 | 0.19 | 0.12 |
| Median age at first event (years) | 28.28 | 29.55 | 25.55 |
-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_NERVOUS_SYSTEM and mortality.
Females
| Parameter | HR [95% CI] | p-value |
|---|---|---|
| Q17_CONGEN_MALFO_NERVOUS_SYSTEM | 2.691 [2.25, 3.23] | < 0.001 |
| Birth year | 0.994 [0.99, 1.0] | 0.139 |
During the follow-up period (1.1.1998 — 31.12.2019), 237 out of 4093 females with Q17_CONGEN_MALFO_NERVOUS_SYSTEM died.
Males
| Parameter | HR [95% CI] | p-value |
|---|---|---|
| Q17_CONGEN_MALFO_NERVOUS_SYSTEM | 3.066 [2.48, 3.79] | < 0.001 |
| Birth year | 0.983 [0.97, 0.99] | 0.001 |
During the follow-up period (1.1.1998 — 31.12.2019), 242 out of 3664 males with Q17_CONGEN_MALFO_NERVOUS_SYSTEM died.
Mortality risk
Mortality risk for people of age
years, who have Q17_CONGEN_MALFO_NERVOUS_SYSTEM.| N-year risk | Females | Males |
|---|---|---|
| 1 | 0.247% | 0.659% |
| 5 | 1.631% | 3.359% |
| 10 | 3.77% | 7.849% |
| 15 | 7.188% | 14.821% |
| 20 | 12.271% | 23.606% |
Relationships between endpoints
↥Index endpoint: Q17_CONGEN_MALFO_NERVOUS_SYSTEM – Congenital malformations of the nervous system
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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