cleft lip: ['Congenital defect in the upper lip where the maxillary prominence fails to merge with the merged medial nasal prominences. It is thought to be caused by faulty migration of the mesoderm in the head region.']
Endpoint definition
↥
Endpoint definition steps |
FinnGen |
|---|---|
Phenotype data |
429209 |
1. Apply sex-specific ruleNone |
429209 |
2. Check conditions
|
428574 |
3. Check pre-conditions, main-only, mode, registry filtersRegistry filters:
2 out of 7 registries used, show all original rules. |
516 |
4. Check minimum number of eventsNone |
516 |
5. Include endpointsNone |
516 |
6. Filter based on genotype QC (FinnGen only) |
495 |
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
Cleft lip, lip and palate or palate
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 | 8348 | 4172 | 4162 |
| Only index persons | 6932 | 3502 | 3430 |
| Unadjusted period prevalence (%) | |||
| Whole population | 0.12 | 0.12 | 0.12 |
| Only index persons | 0.13 | 0.13 | 0.13 |
| Median age at first event (years) | |||
| Whole population | 1.21 | 1.31 | 1.00 |
| Only index persons | 1.51 | 1.76 | 1.27 |
-FinnGen-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | 495 | 301 | 194 |
| Unadjusted period prevalence (%) | 0.12 | 0.13 | 0.11 |
| Median age at first event (years) | 3.43 | 3.06 | 4.01 |
-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_CLEFT_LIP_CLEFT_PALATE – Cleft lip, lip and palate or palate
GWS hits: 4
Loading Relationships table