No definition available.
Congenital malformations of anterior segment of eye
Q17_CONGEN_MALFO_ANTER_SEGMENT_EYE
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. |
275 |
4. Check minimum number of eventsNone |
275 |
5. Include endpointsNone |
275 |
6. Filter based on genotype QC (FinnGen only) |
259 |
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 segmenti anterioris oculi
Similar endpoints
↥List of similar endpoints to
Congenital malformations of anterior segment of eye
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 | 3928 | 2171 | 1751 |
| Only index persons | 3225 | 1828 | 1397 |
| Unadjusted period prevalence (%) | |||
| Whole population | 0.06 | 0.06 | 0.05 |
| Only index persons | 0.06 | 0.07 | 0.05 |
| Median age at first event (years) | |||
| Whole population | 17.73 | 23.82 | 10.13 |
| Only index persons | 25.88 | 30.67 | 19.61 |
-FinnGen-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | 259 | 171 | 88 |
| Unadjusted period prevalence (%) | 0.06 | 0.07 | 0.04 |
| Median age at first event (years) | 41.41 | 40.35 | 43.46 |
-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_MALFO_ANTER_SEGMENT_EYE and mortality.
Females
| Parameter | HR [95% CI] | p-value |
|---|---|---|
| Q17_CONGEN_MALFO_ANTER_SEGMENT_EYE | 1.16 [0.95, 1.41] | 0.138 |
| Birth year | 0.997 [0.99, 1.01] | 0.48 |
During the follow-up period (1.1.1998 — 31.12.2019), 111 out of 2105 females with Q17_CONGEN_MALFO_ANTER_SEGMENT_EYE died.
Males
| Parameter | HR [95% CI] | p-value |
|---|---|---|
| Q17_CONGEN_MALFO_ANTER_SEGMENT_EYE | 1.031 [0.81, 1.31] | 0.799 |
| Birth year | 0.984 [0.97, 0.99] | 0.002 |
During the follow-up period (1.1.1998 — 31.12.2019), 104 out of 1688 males with Q17_CONGEN_MALFO_ANTER_SEGMENT_EYE died.
Mortality risk
Mortality risk for people of age
years, who have Q17_CONGEN_MALFO_ANTER_SEGMENT_EYE.| N-year risk | Females | Males |
|---|---|---|
| 1 | 0.12% | 0.199% |
| 5 | 0.737% | 1.156% |
| 10 | 1.857% | 2.918% |
| 15 | 3.662% | 5.273% |
| 20 | 6.114% | 8.716% |
Relationships between endpoints
↥Index endpoint: Q17_CONGEN_MALFO_ANTER_SEGMENT_EYE – Congenital malformations of anterior segment of eye
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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