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. |
99 |
4. Check minimum number of eventsNone |
99 |
5. Include endpointsNone |
99 |
6. Filter based on genotype QC (FinnGen only) |
97 |
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
Ichthyosis congenita
Similar endpoints
↥List of similar endpoints to
Congenital ichthyosis
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
- Any prescribed medicine buy
Similar with less cases:
None
Case counts by codes
↥
Summary Statistics
↥-FinRegistry-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | |||
| Whole population | 1177 | 430 | 744 |
| Only index persons | 1017 | 379 | 638 |
| Unadjusted period prevalence (%) | |||
| Whole population | 0.02 | 0.01 | 0.02 |
| Only index persons | 0.02 | 0.01 | 0.02 |
| Median age at first event (years) | |||
| Whole population | 19.16 | 24.30 | 16.03 |
| Only index persons | 20.43 | 25.76 | 17.26 |
-FinnGen-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | 97 | 49 | 48 |
| Unadjusted period prevalence (%) | 0.02 | 0.02 | 0.02 |
| Median age at first event (years) | 36.90 | 37.40 | 36.38 |
-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_ICHTHYOSIS and mortality.
Females
| Parameter | HR [95% CI] | p-value |
|---|---|---|
| Q17_CONGEN_ICHTHYOSIS | 2.725 [1.83, 4.05] | < 0.001 |
| Birth year | 0.999 [0.99, 1.01] | 0.719 |
During the follow-up period (1.1.1998 — 31.12.2019), 56 out of 389 females with Q17_CONGEN_ICHTHYOSIS died.
Males
| Parameter | HR [95% CI] | p-value |
|---|---|---|
| Q17_CONGEN_ICHTHYOSIS | 2.096 [1.48, 2.97] | < 0.001 |
| Birth year | 0.987 [0.98, 1.0] | 0.009 |
During the follow-up period (1.1.1998 — 31.12.2019), 86 out of 677 males with Q17_CONGEN_ICHTHYOSIS died.
Mortality risk
Mortality risk for people of age
years, who have Q17_CONGEN_ICHTHYOSIS.| N-year risk | Females | Males |
|---|---|---|
| 1 | 0.288% | 0.393% |
| 5 | 1.607% | 2.023% |
| 10 | 3.991% | 5.884% |
| 15 | 8.222% | 11.596% |
| 20 | 14.303% | 19.161% |
Relationships between endpoints
↥Index endpoint: Q17_CONGEN_ICHTHYOSIS – Congenital ichthyosis
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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