This is a non-core endpoint: only basic statistics are computed.
See these related core endpoints for full statistics:
Congenital malformation syndromes predominantly affecting facial appearance
Q17_SYNDROMATA_MALFORMATIONUM_CONGENITAR_PRAECI_FACIEM_AFFIC1
No definition available.
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. |
82 |
4. Check minimum number of eventsNone |
82 |
5. Include endpointsNone |
82 |
6. Filter based on genotype QC (FinnGen only) |
77 |
Control definitions (FinnGen only)
Controls for this endpoint are individuals that are not cases.
Extra metadata
First used in FinnGen datafreeze
DF7
Similar endpoints
↥List of similar endpoints to
Congenital malformation syndromes predominantly affecting facial appearance
based on the number of shared cases.
Broader endpoints:
- Other specified congenital malformation syndromes affecting multiple systems
- Exclusion endpoint for clefts
- Clefts and syndromes for tooth agenesis exclusion, including avohilmo
- Other congenital malformations
- Congenital malformations, deformations and chromosomal abnormalities
Narrower endpoints:
None
Case counts by codes
↥
Summary Statistics
↥-FinRegistry-
This endpoint is excluded from FinRegistry analyses (omitted endpoint).
-FinnGen-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | 77 | 45 | 32 |
| Unadjusted period prevalence (%) | 0.02 | 0.02 | 0.02 |
| Median age at first event (years) | 11.09 | 13.70 | 7.43 |
-FinnGen-
Age distribution of first events
-FinnGen-
Year distribution of first events
-FinnGen-
Cumulative Incidence Function
Not a core endpoint, no data to show.
Mortality – FinRegistry
↥This endpoint is excluded from FinRegistry analyses (omitted endpoint).
Relationships between endpoints
↥Index endpoint: Q17_SYNDROMATA_MALFORMATIONUM_CONGENITAR_PRAECI_FACIEM_AFFIC1 – Congenital malformation syndromes predominantly affecting facial appearance
GWS hits: -
Loading Relationships table