No definition available.
Congenital malformations of eyelid, lacrimal apparatus and orbit
Q17_CONGEN_MALFO_EYELID_LACRIMAL_APPARA_ORBIT
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. |
306 |
4. Check minimum number of eventsNone |
306 |
5. Include endpointsNone |
306 |
6. Filter based on genotype QC (FinnGen only) |
294 |
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 palpebrarum, apparatus lacrimalis et orbitae
Similar endpoints
↥List of similar endpoints to
Congenital malformations of eyelid, lacrimal apparatus and orbit
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 | 12033 | 5863 | 6168 |
| Only index persons | 7548 | 3712 | 3836 |
| Unadjusted period prevalence (%) | |||
| Whole population | 0.17 | 0.17 | 0.17 |
| Only index persons | 0.14 | 0.14 | 0.15 |
| Median age at first event (years) | |||
| Whole population | 1.30 | 1.32 | 1.26 |
| Only index persons | 1.36 | 1.40 | 1.32 |
-FinnGen-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | 294 | 174 | 120 |
| Unadjusted period prevalence (%) | 0.07 | 0.07 | 0.06 |
| Median age at first event (years) | 3.48 | 2.44 | 4.99 |
-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_EYELID_LACRIMAL_APPARA_ORBIT and mortality.
Females
| Parameter | HR [95% CI] | p-value |
|---|---|---|
| Q17_CONGEN_MALFO_EYELID_LACRIMAL_APPARA_ORBIT | 1.242 [0.85, 1.81] | 0.263 |
| Birth year | 1.0 [0.99, 1.01] | 0.939 |
During the follow-up period (1.1.1998 — 31.12.2019), 61 out of 5131 females with Q17_CONGEN_MALFO_EYELID_LACRIMAL_APPARA_ORBIT died.
Males
| Parameter | HR [95% CI] | p-value |
|---|---|---|
| Q17_CONGEN_MALFO_EYELID_LACRIMAL_APPARA_ORBIT | 1.42 [1.06, 1.9] | 0.018 |
| Birth year | 0.986 [0.98, 1.0] | 0.004 |
During the follow-up period (1.1.1998 — 31.12.2019), 66 out of 5456 males with Q17_CONGEN_MALFO_EYELID_LACRIMAL_APPARA_ORBIT died.
Mortality risk
Mortality risk for people of age
years, who have Q17_CONGEN_MALFO_EYELID_LACRIMAL_APPARA_ORBIT.| N-year risk | Females | Males |
|---|---|---|
| 1 | 0.099% | 0.215% |
| 5 | 0.743% | 1.521% |
| 10 | 2.266% | 4.077% |
| 15 | 4.051% | 7.793% |
| 20 | 7.108% | 12.713% |
Relationships between endpoints
↥Index endpoint: Q17_CONGEN_MALFO_EYELID_LACRIMAL_APPARA_ORBIT – Congenital malformations of eyelid, lacrimal apparatus and orbit
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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