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. |
163 |
4. Check minimum number of eventsNone |
163 |
5. Include endpointsNone |
163 |
6. Filter based on genotype QC (FinnGen only) |
156 |
Control definitions (FinnGen only)
Control exclude
Q17_CONGEN_MALFO_EYE_EAR_FACE_NECK
Extra metadata
Level in the ICD hierarchy
3
First used in FinnGen datafreeze
DF4
Parent code in ICD-10
Q1
Name in latin
Malformationes congenitae lentis
Similar endpoints
↥List of similar endpoints to
Congenital lens malformations
based on the number of shared cases.
Similar with more cases:
- Congenital malformations of eye, ear, face and neck
- 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 | 2183 | 1150 | 1030 |
| Only index persons | 1768 | 928 | 840 |
| Unadjusted period prevalence (%) | |||
| Whole population | 0.03 | 0.03 | 0.03 |
| Only index persons | 0.03 | 0.03 | 0.03 |
| Median age at first event (years) | |||
| Whole population | 10.95 | 12.13 | 9.56 |
| Only index persons | 18.23 | 19.68 | 16.63 |
-FinnGen-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | 156 | 98 | 58 |
| Unadjusted period prevalence (%) | 0.04 | 0.04 | 0.03 |
| Median age at first event (years) | 34.42 | 35.27 | 32.97 |
-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_LENS_MALFO and mortality.
Females
| Parameter | HR [95% CI] | p-value |
|---|---|---|
| Q17_CONGEN_LENS_MALFO | 1.84 [1.35, 2.5] | < 0.001 |
| Birth year | 0.995 [0.99, 1.0] | 0.26 |
During the follow-up period (1.1.1998 — 31.12.2019), 66 out of 1030 females with Q17_CONGEN_LENS_MALFO died.
Males
| Parameter | HR [95% CI] | p-value |
|---|---|---|
| Q17_CONGEN_LENS_MALFO | 1.74 [1.29, 2.34] | < 0.001 |
| Birth year | 0.982 [0.97, 0.99] | < 0.001 |
During the follow-up period (1.1.1998 — 31.12.2019), 61 out of 909 males with Q17_CONGEN_LENS_MALFO died.
Mortality risk
Mortality risk for people of age
years, who have Q17_CONGEN_LENS_MALFO.| N-year risk | Females | Males |
|---|---|---|
| 1 | 0.179% | 0.298% |
| 5 | 1.2% | 1.783% |
| 10 | 2.636% | 4.544% |
| 15 | 5.309% | 8.245% |
| 20 | 9.297% | 13.429% |
Relationships between endpoints
↥Index endpoint: Q17_CONGEN_LENS_MALFO – Congenital lens malformations
GWS hits: 1
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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