No definition available.
Congenital malformations of posterior segment of eye
Q17_CONGEN_MALFO_POSTERI_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. |
167 |
4. Check minimum number of eventsNone |
167 |
5. Include endpoints |
167 |
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 segmenti posterioris oculi
Similar endpoints
↥List of similar endpoints to
Congenital malformations of posterior 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
Similar with less cases:
Case counts by codes
↥
Summary Statistics
↥-FinRegistry-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | |||
| Whole population | 2267 | 918 | 1344 |
| Only index persons | 1896 | 773 | 1123 |
| Unadjusted period prevalence (%) | |||
| Whole population | 0.03 | 0.03 | 0.04 |
| Only index persons | 0.04 | 0.03 | 0.04 |
| Median age at first event (years) | |||
| Whole population | 18.62 | 21.64 | 16.46 |
| Only index persons | 25.83 | 31.39 | 22.00 |
-FinnGen-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | 156 | 78 | 78 |
| Unadjusted period prevalence (%) | 0.03 | 0.03 | 0.04 |
| Median age at first event (years) | 46.83 | 50.79 | 42.87 |
-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_POSTERI_SEGMENT_EYE and mortality.
Females
| Parameter | HR [95% CI] | p-value |
|---|---|---|
| Q17_CONGEN_MALFO_POSTERI_SEGMENT_EYE | 1.133 [0.83, 1.54] | 0.424 |
| Birth year | 0.996 [0.99, 1.01] | 0.419 |
During the follow-up period (1.1.1998 — 31.12.2019), 59 out of 832 females with Q17_CONGEN_MALFO_POSTERI_SEGMENT_EYE died.
Males
| Parameter | HR [95% CI] | p-value |
|---|---|---|
| Q17_CONGEN_MALFO_POSTERI_SEGMENT_EYE | 0.919 [0.7, 1.21] | 0.544 |
| Birth year | 0.986 [0.98, 0.99] | 0.003 |
During the follow-up period (1.1.1998 — 31.12.2019), 85 out of 1243 males with Q17_CONGEN_MALFO_POSTERI_SEGMENT_EYE died.
Mortality risk
Mortality risk for people of age
years, who have Q17_CONGEN_MALFO_POSTERI_SEGMENT_EYE.| N-year risk | Females | Males |
|---|---|---|
| 1 | 0.1% | 0.158% |
| 5 | 0.631% | 0.93% |
| 10 | 1.739% | 2.363% |
| 15 | 3.15% | 4.483% |
| 20 | 5.696% | 7.972% |
Relationships between endpoints
↥Index endpoint: Q17_CONGEN_MALFO_POSTERI_SEGMENT_EYE – Congenital malformations of posterior segment of eye
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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