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. |
1418 |
4. Check minimum number of eventsNone |
1418 |
5. Include endpointsNone |
1418 |
6. Filter based on genotype QC (FinnGen only) |
1364 |
Control definitions (FinnGen only)
Control exclude
Q17_OTHER_CONGEN_MALFO
Extra metadata
Level in the ICD hierarchy
3
First used in FinnGen datafreeze
DF4
Parent code in ICD-10
Q8
Name in latin
Aliae malformationes congenitae cutis
Similar endpoints
↥List of similar endpoints to
Other congenital malformations of skin
based on the number of shared cases.
Similar with more cases:
- Other congenital malformations
- 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 | 17324 | 10148 | 7145 |
| Only index persons | 13543 | 8120 | 5423 |
| Unadjusted period prevalence (%) | |||
| Whole population | 0.25 | 0.29 | 0.20 |
| Only index persons | 0.26 | 0.30 | 0.21 |
| Median age at first event (years) | |||
| Whole population | 14.42 | 16.84 | 10.89 |
| Only index persons | 23.76 | 27.52 | 18.11 |
-FinnGen-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | 1364 | 923 | 441 |
| Unadjusted period prevalence (%) | 0.32 | 0.36 | 0.22 |
| Median age at first event (years) | 43.11 | 40.52 | 48.52 |
-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
↥Association
Association between endpoint Q17_OTHER_CONGEN_MALFO_SKIN and mortality.
Females
| Parameter | HR [95% CI] | p-value |
|---|---|---|
| Q17_OTHER_CONGEN_MALFO_SKIN | 1.014 [0.88, 1.17] | 0.843 |
| Birth year | 1.0 [0.99, 1.01] | 0.907 |
During the follow-up period (1.1.1998 — 31.12.2019), 482 out of 9147 females with Q17_OTHER_CONGEN_MALFO_SKIN died.
Males
| Parameter | HR [95% CI] | p-value |
|---|---|---|
| Q17_OTHER_CONGEN_MALFO_SKIN | 1.033 [0.9, 1.18] | 0.638 |
| Birth year | 0.989 [0.98, 1.0] | 0.024 |
During the follow-up period (1.1.1998 — 31.12.2019), 444 out of 6458 males with Q17_OTHER_CONGEN_MALFO_SKIN died.
Mortality risk
Mortality risk for people of age
years, who have Q17_OTHER_CONGEN_MALFO_SKIN.| N-year risk | Females | Males |
|---|---|---|
| 1 | 0.131% | 0.204% |
| 5 | 0.653% | 1.158% |
| 10 | 1.623% | 3.183% |
| 15 | 3.116% | 6.268% |
| 20 | 5.536% | 10.467% |
Relationships between endpoints
↥Index endpoint: Q17_OTHER_CONGEN_MALFO_SKIN – Other congenital malformations of skin
GWS hits: 4
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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