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 |
429209 |
1. Apply sex-specific ruleNone |
429209 |
2. Check conditionsNone |
429209 |
3. Check pre-conditions, main-only, mode, registry filtersRegistry filters: 2 out of 7 registries used, show all original rules. |
614 |
4. Check minimum number of eventsNone |
614 |
5. Include endpoints |
667 |
6. Filter based on genotype QC (FinnGen only) |
637 |
Control definitions (FinnGen only)
Controls for this endpoint are individuals that are not cases.
Extra metadata
Similar endpoints
↥List of similar endpoints to Congenital malformations of the nervous system based on the number of shared cases.
Broader endpoints:
- Congenital malformations, deformations and chromosomal abnormalities
- Any event in hilmo or specialist outpatient
Narrower endpoints:
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 | 637 | 431 | 206 |
Unadjusted period prevalence (%) | 0.16 | 0.19 | 0.11 |
Median age at first event (years) | 28.26 | 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
Mortality – FinRegistry
↥Relationships between endpoints
↥Index endpoint: Q17_CONGEN_MALFO_NERVOUS_SYSTEM – Congenital malformations of the nervous system
GWS hits: -
Loading Relationships table