No definition available.
Endpoint definition
↥Report an error or suggest an improvement for this endpoint codes
Endpoint definition steps |
FinnGen |
|---|---|
Phenotype data |
557745 |
1. Apply sex-specific ruleNone |
557745 |
2. Check conditionsNone |
557745 |
3. Check pre-conditions, main-only, mode, registry filtersRegistry filters: 2 out of 7 registries used, show all original rules. |
85 |
4. Check minimum number of eventsNone |
85 |
5. Include endpointsNone |
85 |
6. Filter based on genotype QC (FinnGen only) |
74 |
Control definitions (FinnGen only)
Controls for this endpoint are individuals that are not cases.
Similar endpoints
↥List of similar endpoints to
Congenital retinoschisis
based on the number of shared cases.
Similar with more cases:
- Congenital retinoschisis
- Congenital malformations of posterior segment of eye
- Congenital malformations of eye, ear, face and neck
- Congenital malformations, deformations and chromosomal abnormalities
- Congenital malformations, deformations and chromosomal abnormalities, including avohilmo
Similar with less cases:
None
Case counts by codes
↥
Summary Statistics
↥-FinRegistry-
This endpoint is excluded (different definition than used in FinnGen).
-FinnGen-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | 74 | 29 | 45 |
| Unadjusted period prevalence (%) | 0.02 | 0.01 | 0.02 |
| Median age at first event (years) | 56.32 | 57.23 | 55.74 |
-FinnGen-
Age distribution of first events
-FinnGen-
Year distribution of first events
-FinnGen-
Cumulative Incidence Function
No data
CodeWAS
↥CodeWAS is a tool for exploring the associations between an endpoint and all of the medical codes and drug codes.
This is a new tool, please reach out using the contact form for feedback and improvement ideas.
First, a cohort is built by matching controls to the endpoint cases using year of birth and sex. Then, a Fisher test is done for all the medical codes and drug codes between the cases and controls of this cohort. Codes are reported in the table below if they have −log10(p-value) ≥ 6.
Matched cohort
- Matched cases
- 78
- Matched controls
- 780
Code
Vocabulary
Description
Odds Ratio
-log10(p)
N matched cases
N matched controls
Q14.10
ICD-10 Finland
Congenital retinoschis
+∞
112.2
78
*
H33.1
ICD-10 Finland
Retinoschisis and retinal cysts
113.4
23.2
24
*
H35.5
ICD-10 Finland
Hereditary retinal dystrophy
+∞
8.5
8
*
CKC12
NOMESCO Finland
Photocoagulation of retina
10.6
8.0
15
17
LabWAS
↥OMOP Concept
People with measurements
Mean N measurements
Mean measured value
(ID) Name
N Cases
N Controls
OR
-log10(p)
cases
controls
cases
controls
unit
-log10(p)
N cases
N controls
6
7
9.15
3.32
1.0
1.6
—
—
—
0
0
6
8
8.00
3.11
1.0
1.5
—
—
—
0
0
9
21
4.70
3.10
2.9
1.8
—
—
—
0
0
9
22
4.48
2.99
2.9
1.9
—
—
—
0
0
78
711
+∞
2.77
28.7
28.2
39.62
40.54
%
0.70
78
704
78
711
+∞
2.77
28.5
27.1
90.87
91.15
fl
0.20
78
705
11
40
3.03
2.39
9.5
6.9
0.67
0.63
%
0.09
11
40
11
41
2.95
2.32
9.5
6.8
0.82
1.24
%
0.98
11
41
50
364
2.04
2.32
6.9
9.3
1.22
1.20
mmol/l
1.12
45
311
5
10
5.26
2.10
3.2
2.7
105.60
107.50
mmol/l
—
5
10
5
10
5.26
2.10
1.2
1.1
—
—
—
0
0
5
10
5.26
2.10
3.2
2.7
1.21
1.21
mmol/l
—
5
10
71
619
2.64
1.97
19.0
18.3
78.23
79.14
ml/min/173m2
0.13
66
581
64
533
2.12
1.76
9.7
9.3
76.87
85.08
u/l
1.07
64
511
12
58
2.26
1.59
1.5
1.6
—
—
—
0
0
6
23
2.74
1.39
1.7
1.6
—
—
—
0
0
6
23
2.74
1.39
2.0
1.6
1.28
1.18
g/l
—
6
23
5
17
3.07
1.38
1.2
1.3
—
—
—
0
0
5
17
3.07
1.38
1.0
1.6
—
—
—
0
0
6
25
2.51
1.27
1.3
1.5
—
—
—
0
0
5
19
2.74
1.23
1.2
1.3
—
—
—
0
0
37
283
1.58
1.16
5.9
4.4
0.00
0.00
estimate
—
10
73
19
124
1.70
1.10
2.7
1.7
—
—
—
0
0
10
54
1.98
1.02
2.2
2.4
4.63
7.19
ug/l
—
10
46
6
27
2.32
0.96
1.8
2.4
—
—
—
0
0
8
42
2.01
0.92
2.3
1.5
—
—
—
0
0
6
29
2.16
0.91
5.5
3.2
26.00
24.63
mmol/l
—
6
29
8
43
1.96
0.90
1.6
1.3
—
—
—
0
0
31
240
1.48
0.87
4.0
4.1
9.18
10.46
mg/mmol
0.07
21
152
43
357
1.46
0.84
5.7
4.4
0.00
0.00
estimate
—
10
85
44
368
1.45
0.82
5.6
4.4
0.00
0.00
estimate
-0.00
11
76
(3020427) Coagulation factor X inhibitor [Units/volume] in Platelet poor plasma by Coagulation assay
0
25
0.00
0.80
0.0
2.6
—
0.38
—
0
14
28
216
1.46
0.79
6.4
4.1
0.00
0.00
estimate
—
9
69
45
382
1.42
0.75
3.1
2.9
—
—
—
0
0
22
165
1.46
0.71
2.7
2.7
—
—
—
0
0
5
27
1.91
0.69
1.4
1.5
—
—
—
0
0
10
62
1.70
0.69
3.1
4.9
1.22
1.22
mmol/l
—
10
55
22
281
0.70
0.68
1.8
2.0
1.46
1.30
mmol/l
0.37
17
239
72
675
1.87
0.67
24.6
21.2
3.98
4.00
mmol/l
0.32
72
664
43
368
1.38
0.65
5.7
4.4
0.00
0.00
estimate
-0.00
11
85
8
49
1.70
0.64
11.5
9.4
22.80
23.95
mmol/l
—
8
49
57
512
1.42
0.64
4.1
4.3
15.16
14.99
pmol/l
0.17
52
472
7
114
0.58
0.64
4.7
7.7
0.87
1.09
mmol/l
—
7
106
0
20
0.00
0.61
0.0
1.4
—
—
—
0
0
71
671
1.65
0.53
24.3
21.1
139.15
139.73
mmol/l
1.11
71
663
48
430
1.30
0.48
11.4
11.8
4.10
4.20
e9/l
0.09
42
374
8
60
1.37
0.42
1.5
2.5
3.30
3.18
ratio
—
8
49
0
15
0.00
0.41
0.0
1.2
—
—
—
0
0
0
17
0.00
0.41
0.0
1.5
—
229.50
—
0
6
15
117
1.35
0.39
3.5
3.1
8.09
3.01
e6/l
—
9
57
6
43
1.43
0.36
3.3
2.2
82.33
253.92
ng/l
—
6
37
36
322
1.22
0.32
2.8
2.9
—
—
estimate
—
0
0
7
54
1.33
0.31
1.4
1.5
—
—
—
0
0
10
76
1.36
0.30
1.7
4.1
—
—
—
0
0
5
74
0.65
0.27
17.6
11.4
24.22
24.93
mmol/l
—
5
74
15
124
1.26
0.26
3.5
2.9
3.35
0.83
e6/l
—
10
63
34
308
1.18
0.25
1.9
2.1
108.44
97.14
pmol/l
0.85
20
153
26
230
1.20
0.25
4.1
4.8
21.02
22.57
%
—
10
111
0
11
0.00
0.21
0.0
1.6
—
—
—
0
0
0
11
0.00
0.21
0.0
1.1
—
3.30
—
0
6
0
10
0.00
0.21
0.0
1.2
—
216.10
—
0
10
0
13
0.00
0.21
0.0
1.4
—
—
—
0
0
13
109
1.23
0.20
1.3
1.2
0.97
7.78
u/ml
—
6
41
6
76
0.77
0.16
4.0
7.8
—
—
—
0
0
13
116
1.14
0.10
1.5
2.6
28.97
29.85
s
0.25
13
110
5
45
1.12
0.10
1.4
2.2
3.12
3.41
mmol/l
—
5
34
23
215
1.10
0.09
4.2
4.5
0.00
0.00
estimate
—
9
77
20
187
1.09
0.07
2.6
3.0
371.25
351.52
umol/l
0.36
20
162
9
99
0.90
0.07
2.7
1.6
—
—
—
0
0
17
180
0.93
0.04
3.4
3.3
0.50
0.84
ug/l
—
9
111
17
163
1.05
0.01
3.3
3.9
1.02
1.02
kg/l
0.04
12
106
17
176
0.96
0.00
1.2
1.4
0.58
0.98
u/ml
—
6
52
9
94
0.95
0.00
2.8
1.7
—
—
—
0
0
0
7
0.00
-0.00
0.0
1.3
—
—
—
0
0
0
7
0.00
-0.00
0.0
1.1
—
8.57
—
0
7
0
6
0.00
-0.00
0.0
3.8
—
0.33
—
0
6
0
8
0.00
-0.00
0.0
1.9
—
—
—
0
0
0
9
0.00
-0.00
0.0
1.3
—
—
—
0
0
0
7
0.00
-0.00
0.0
4.4
—
126.00
—
0
7
7
79
0.87
-0.00
4.3
10.6
117.86
120.43
g/l
—
7
79
0
5
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
8
0.00
-0.00
0.0
1.1
—
—
—
0
0
Mortality – FinRegistry
↥This endpoint is excluded (different definition than used in FinnGen).
Relationships between endpoints
↥Index endpoint: Q17_CONGENITAL_RETINOSCHISIS – Congenital retinoschisis
GWS hits: 9
This endpoint is excluded (different definition than used in FinnGen).