Congenital cataract

Q17_CONGENITAL_CATARACT

Endpoint definition

Report an error or suggest an improvement for this endpoint codes

Endpoint definition steps

FinnGen

Phenotype data

557745

1. Apply sex-specific rule

None

557745

2. Check conditions

None

557745

3. Check pre-conditions, main-only, mode, registry filters

Registry filters:

  • Hospital discharge: ICD-10 Q12.0
  • Cause of death: ICD-10 Q12.0

2 out of 7 registries used, show all original rules.

179

4. Check minimum number of events

None

179

5. Include endpoints

None

179

6. Filter based on genotype QC (FinnGen only)

161

Control definitions (FinnGen only)

Controls for this endpoint are individuals that are not cases.

Case counts by codes

FinnGen case counts by registry codes:

generic upset plot

Upset plot

Full data table

Summary Statistics

-FinRegistry-

This endpoint is excluded (different definition than used in FinnGen).

-FinnGen-

Key figures

All Female Male
Number of individuals 161 100 61
Unadjusted period prevalence (%) 0.03 0.04 0.03
Median age at first event (years) 34.72 34.46 35.15

-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
169
Matched controls
1690
Code
Vocabulary
Description
Odds Ratio
-log10(p)
N matched cases
N matched controls
Q12.0
ICD-10 Finland
Congenital cataract
+∞
244.5
169
*
Z96.1
ICD-10 Finland
Presence of intraocular lens
15.5
63.8
69
72
H27.0
ICD-10 Finland
Aphakia
379.3
32.0
31
*
H26.4
ICD-10 Finland
After-cataract
10.6
30.9
38
45
S01CA01
ATC
dexamethasone and antiinfectives; ophthalmic
5.5
27.3
84
256
CJE20
NOMESCO Finland
Phakoemulsification with implantation of artificial lens in posterior chamber
5.4
24.0
66
180
CJB10
NOMESCO Finland
Laser discission of secondary cataract
9.9
23.9
30
36
S01ED51
ATC
timolol, combinations; ophthalmic
8.5
20.6
29
40
114
Kela drug reimbursment
Glaucoma
8.6
20.2
28
38
7433A
ICD-9 Finland
Congenital anomalies of eye, Congenital cataract and lens anomalies
+∞
19.1
18
*
CKD60
NOMESCO Finland
Anterior vitrectomy
112.7
19.0
20
*
H26.00
ICD-10 Finland
Infantile, juvenile and presenile cataract
+∞
15.9
15
*
74439
ICD-8 Finland
Congenital anomalies of eye, Cataracta NUD
175.6
15.8
16
*
XCK10
NOMESCO Finland
Photography of fundus of eye
5.8
14.4
29
58
H40.5
ICD-10 Finland
Glaucoma secondary to other eye disorders
46.9
14.4
17
*
ZXA00
NOMESCO Finland
Right side
3.8
14.3
59
209
S01ED01
ATC
timolol; ophthalmic
18.2
13.9
21
13
H55
ICD-10 Finland
Nystagmus and other irregular eye movements
43.9
13.4
16
*
WX140
NOMESCO Finland
Parabulbar anesthesy
12.0
13.3
24
23
XCD00
NOMESCO Finland
Clinical examination of eye in general anaesthesia
140.0
12.6
13
*
XCW99
NOMESCO Finland
Other investigative procedure of eye
4.8
12.4
31
75
TCG10
NOMESCO Finland
Removal of sutures from cornea
+∞
11.6
11
*
CJD20
NOMESCO Finland
Extracapsular cataract extraction with implantation of artificial lens in posterior chamber
+∞
11.6
11
*
CJF10
NOMESCO Finland
Secondary implantation of artificial lens in posterior chamber
+∞
11.6
11
*
H53.0
ICD-10 Finland
Amblyopia ex anopsia
23.3
10.9
15
7
3793A
ICD-9 Finland
Other disorders of eye, Aphakia and other disorders of lens[APHAKIA]
117.0
10.5
11
*
H54.2
ICD-10 Finland
Moderate visual impairment, binocular
35.0
10.5
13
*
H26.02
ICD-10 Finland
Presenil cataract
20.4
10.5
15
8
Z01.0
ICD-10 Finland
Examination of eyes and vision
3.3
10.3
49
187
H33.0
ICD-10 Finland
Retinal detachment with retinal break
11.7
10.1
18
17
S01EE01
ATC
latanoprost; ophthalmic
8.7
10.0
21
27
H26.01
ICD-10 Finland
Infantile, juvenile and presenile cataract
58.4
9.8
11
*
ZXA10
NOMESCO Finland
Bilateral
3.2
9.6
46
175
ZXD10
NOMESCO Finland
Scheduled procedure
2.8
9.3
75
380
Z3229
NOMESCO Finland
Other healthcare associate professional
3.9
8.8
29
86
S01EC03
ATC
dorzolamide; ophthalmic
+∞
8.4
8
*
S01EC01
ATC
acetazolamide; systemic
15.5
8.3
13
9
S01BA04
ATC
prednisolone; ophthalmic
18.3
8.2
12
7
S01EA03
ATC
apraclonidine; ophthalmic
35.2
8.2
10
*
CKD65
NOMESCO Finland
Pars plana or pars plicata vitrectomy
19.5
7.7
11
6
H50.1
ICD-10 Finland
Divergent concomitant strabismus
26.4
7.7
10
*
ZXD20
NOMESCO Finland
Day surgery
3.3
7.6
33
117
ZXA05
NOMESCO Finland
Left side
2.8
7.3
44
188
WX408
NOMESCO Finland
General anesthesy, balanced
2.6
7.0
53
254
S01CA02
ATC
prednisolone and antiinfectives; ophthalmic
23.6
6.7
9
*
R5110
NOMESCO Finland
Evaluation of the need for aids, the testing, fitting and choice of the aid, instruction in use and delivery of it
3.0
6.5
32
122
S01AX11
ATC
[U] ofloxacin
7.5
6.4
14
20
CKD92
NOMESCO Finland
Combined vitrectomy and retinal procedure
18.9
6.3
9
5
S01EC04
ATC
brinzolamide; ophthalmic
6.7
6.3
15
24
R5210
NOMESCO Finland
Assessment of the improvements needed in the living environment
+∞
6.3
6
*
H54.4
ICD-10 Finland
Blindness, monocular
+∞
6.3
6
*
37872
ICD-8 Finland
Other diseases of eye, Aphakia artefacta, acquisita
+∞
6.3
6
*
ZXE00
NOMESCO Finland
One hour or less
2.2
6.1
77
459

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
79
558
1.78
3.33
6.8
4.9
36.02
36.81
g/l
0.48
72
539
41
236
1.97
3.28
2.5
2.8
2.45
2.45
mmol/l
0.08
36
209
66
446
1.79
3.21
4.5
3.1
2.37
2.37
mmol/l
0.01
61
404
31
165
2.08
3.06
1.6
1.7
—
—
—
0
0
5
6
8.54
2.76
1.4
1.2
—
—
—
0
0
5
6
8.54
2.76
1.4
1.3
—
—
—
0
0
56
375
1.74
2.74
4.6
4.1
7.39
7.40
ph
0.36
40
268
23
115
2.16
2.66
2.4
6.2
0.30
0.43
%
—
5
37
49
319
1.75
2.64
6.3
4.1
—
—
—
0
0
53
354
1.72
2.60
4.2
4.9
93.04
93.34
%
0.03
53
349
84
646
1.60
2.33
12.6
8.0
1.22
1.22
mmol/l
0.63
76
560
9
29
3.22
2.26
3.1
3.6
7.40
7.41
ph
—
9
29
100
806
1.59
2.25
9.2
7.7
1.86
1.93
e9/l
0.47
92
711
23
124
1.99
2.20
1.2
1.3
167.56
150.36
u/ml
—
9
45
23
126
1.96
2.11
3.6
3.2
—
—
—
0
0
23
126
1.96
2.11
9.8
8.8
7.38
7.42
ph
1.25
17
61
7
21
3.43
1.98
2.7
3.5
9.53
8.59
kpa
—
7
21
7
21
3.43
1.98
2.7
3.5
5.23
5.01
kpa
—
7
21
96
782
1.53
1.95
8.3
7.7
0.59
0.55
e9/l
0.68
86
666
23
130
1.89
1.93
9.5
8.6
-0.07
0.99
mmol/l
0.53
17
109
7
22
3.27
1.90
2.4
1.5
—
—
—
0
0
7
22
3.27
1.90
2.4
1.5
—
—
—
0
0
7
22
3.27
1.90
2.4
1.5
—
—
—
0
0
7
22
3.27
1.90
2.4
1.5
—
—
—
0
0
96
785
1.52
1.89
8.3
7.7
0.04
0.04
e9/l
0.01
86
667
98
807
1.51
1.85
9.0
8.0
0.21
0.19
e9/l
0.58
90
699
5
13
3.93
1.72
1.4
1.2
14.92
26.93
umol/l
—
5
13
6
19
3.23
1.67
4.2
3.1
—
—
—
0
0
103
871
1.47
1.62
11.4
11.3
4.39
3.94
e9/l
0.67
93
749
94
783
1.45
1.58
10.4
5.4
6.60
6.33
mmol/l
0.62
89
724
53
402
1.46
1.44
2.8
2.9
0.12
0.27
e6/l
1.57
37
287
18
104
1.82
1.43
3.8
8.0
23.81
24.21
mmol/l
0.31
18
104
17
98
1.82
1.37
5.1
3.4
75.43
69.66
e9/l
0.29
12
78
67
538
1.41
1.32
11.4
9.7
1.26
1.15
inr
0.84
56
437
45
336
1.46
1.31
1.9
1.5
21.01
22.27
nmol/l
0.21
39
286
66
532
1.39
1.26
2.5
1.8
103.56
98.48
pmol/l
0.38
32
271
6
25
2.45
1.25
3.3
2.8
3.34
4.57
e9/l
—
6
25
6
25
2.45
1.25
1.2
1.8
284.33
272.59
mosm/kgh2o
—
6
17
19
117
1.70
1.24
4.8
12.9
24.42
25.13
mmol/l
0.40
19
117
13
71
1.90
1.23
1.2
1.2
—
—
—
0
0
5
19
2.68
1.22
1.8
1.2
—
—
—
0
0
48
370
1.42
1.18
4.4
5.1
—
—
—
0
0
17
103
1.72
1.18
1.9
2.8
13904.26
7642.86
u/l
—
9
41
0
34
0.00
1.17
0.0
1.1
—
—
—
0
0
41
309
1.43
1.14
2.8
2.7
6.50
6.53
e6/l
0.01
34
278
5
21
2.42
1.10
1.0
1.5
0.31
0.31
g/l
—
5
14
5
21
2.42
1.10
1.0
1.5
4.90
6.34
g/l
—
5
15
5
21
2.42
1.10
1.0
1.5
—
—
—
0
0
5
21
2.42
1.10
1.0
1.5
2.33
2.22
g/l
—
5
14
38
285
1.43
1.08
1.2
1.3
55.43
33.79
iu/ml
—
9
77
47
367
1.39
1.07
4.6
4.0
5.56
11.22
mg/mmol
0.74
32
229
46
358
1.39
1.06
3.8
3.4
45.65
63.86
mg/l
0.25
34
233
137
1264
1.44
1.06
5.5
5.3
38.11
37.74
mmol/mol
0.19
129
1195
86
740
1.33
1.04
10.8
10.8
0.00
0.00
e9/l
0.71
70
588
7
34
2.10
1.04
2.6
8.2
73.67
66.74
%
—
7
34
5
23
2.21
0.98
1.0
1.3
—
—
—
0
0
23
160
1.51
0.95
1.2
1.2
—
—
—
0
0
20
136
1.53
0.91
8.8
10.6
—
—
—
0
0
52
423
1.33
0.91
2.9
2.6
—
—
—
0
0
159
1523
1.74
0.91
21.4
16.0
77.86
72.25
umol/l
0.89
159
1504
54
445
1.31
0.86
3.8
3.2
8.43
8.11
mmol/l
0.14
46
390
26
191
1.43
0.83
2.7
2.0
—
—
—
0
0
6
32
1.91
0.82
2.3
8.3
73.17
63.53
%
—
6
32
153
1458
1.52
0.82
19.4
13.5
25.58
20.92
mg/l
0.83
134
1152
10
58
1.77
0.81
10.1
3.3
—
—
—
0
0
0
25
0.00
0.79
0.0
2.2
—
586.06
—
0
16
55
460
1.29
0.78
5.5
6.7
—
—
—
0
0
10
59
1.74
0.77
1.1
1.1
—
0.57
—
0
7
64
547
1.27
0.76
3.6
3.9
143.06
67.36
e6/l
0.46
43
361
80
706
1.25
0.72
6.5
7.0
19.75
11.14
umol/l
0.59
75
673
127
1183
1.30
0.72
4.9
4.2
14.61
14.65
pmol/l
0.06
120
1086
60
513
1.26
0.71
10.3
7.7
—
—
—
0
0
156
1503
1.49
0.65
16.2
11.2
—
—
—
0
0
28
352
0.75
0.64
7.0
3.6
1.01
1.02
kg/l
0.87
22
211
20
148
1.40
0.63
1.2
1.5
—
—
—
0
0
0
20
0.00
0.61
0.0
3.7
—
7.84
—
0
20
0
20
0.00
0.61
0.0
1.5
—
—
—
0
0
7
113
0.60
0.60
5.3
3.0
0.22
0.17
e6/l
—
7
107
0
23
0.00
0.58
0.0
2.3
—
1336.06
—
0
16
23
177
1.35
0.58
1.3
1.2
—
—
—
0
0
8
55
1.48
0.57
1.0
1.4
—
—
—
0
0
6
37
1.64
0.56
1.2
2.4
—
—
—
0
0
31
252
1.28
0.55
2.1
1.6
—
—
—
0
0
6
38
1.60
0.55
7.3
11.1
—
—
—
0
0
9
61
1.50
0.55
1.1
1.1
0.91
0.85
g/l
—
9
61
9
61
1.50
0.55
1.1
1.1
1.49
1.54
g/l
—
9
61
9
62
1.48
0.54
5.1
9.2
1.91
1.18
mg/l
—
9
57
6
39
1.56
0.53
3.3
2.7
56.33
60.39
%
—
6
39
53
462
1.21
0.51
3.5
3.3
23.89
42.52
e6/l
0.54
37
346
30
245
1.27
0.51
1.9
2.5
282.58
95.42
ug/g
0.39
21
179
22
172
1.32
0.51
2.0
1.6
1260.17
1268.21
nmol/l
0.01
12
136
29
236
1.28
0.51
7.0
4.0
62.73
305.35
ng/l
0.92
23
157
38
446
0.81
0.51
3.3
2.6
—
0.33
—
0
6
21
166
1.30
0.46
1.2
1.9
—
—
—
0
0
19
148
1.32
0.46
7.9
7.3
7.35
7.38
ph
1.64
12
93
61
547
1.18
0.43
1.7
1.9
—
—
—
0
0
0
15
0.00
0.41
0.0
3.3
—
1.19
—
0
15
0
15
0.00
0.41
0.0
3.3
—
105.33
—
0
15
0
15
0.00
0.41
0.0
1.1
—
—
—
0
0
0
15
0.00
0.41
0.0
1.1
—
315.30
—
0
10
0
15
0.00
0.41
0.0
3.3
—
4.03
—
0
15
0
16
0.00
0.41
0.0
1.1
—
0.50
—
0
9
21
169
1.28
0.41
1.2
1.3
—
—
—
0
0
8
61
1.33
0.40
2.1
2.1
—
—
—
0
0
0
19
0.00
0.39
0.0
1.1
—
36.25
—
0
14
24
286
0.81
0.37
3.0
2.0
—
—
—
0
0
14
108
1.32
0.36
1.4
1.4
—
—
—
0
0
74
798
0.87
0.36
5.2
3.7
0.00
0.02
estimate
0.50
22
170
6
43
1.41
0.35
1.0
1.2
—
—
—
0
0
10
73
1.39
0.35
1.1
1.7
—
—
—
0
0
73
786
0.87
0.34
5.1
3.6
0.00
0.00
estimate
-0.00
23
180
14
176
0.78
0.34
1.4
1.2
—
—
—
0
0
19
160
1.21
0.27
7.5
9.8
104.74
104.49
mmol/l
0.08
19
160
10
77
1.32
0.26
1.0
1.1
—
—
—
0
0
26
227
1.17
0.25
2.8
2.9
3.15
2.79
e6/l
0.06
11
110
9
74
1.23
0.25
3.0
6.5
0.61
0.63
%
—
9
74
75
795
0.90
0.25
5.1
3.6
0.00
0.00
estimate
-0.00
23
177
9
77
1.18
0.25
1.0
1.1
—
—
—
0
0
48
441
1.12
0.24
5.3
3.8
0.00
0.00
estimate
-0.00
22
171
141
1375
1.15
0.24
6.2
5.1
1.94
1.84
mu/l
0.40
136
1288
42
459
0.89
0.24
2.8
2.2
—
—
—
0
0
0
11
0.00
0.21
0.0
1.2
—
—
—
0
0
0
11
0.00
0.21
0.0
4.5
—
1.15
—
0
11
0
11
0.00
0.21
0.0
4.0
—
2.76
—
0
11
0
12
0.00
0.21
0.0
1.9
—
—
—
0
0
0
13
0.00
0.21
0.0
2.8
—
0.26
—
0
6
61
648
0.91
0.21
4.6
3.3
6.29
6.22
ph
0.26
39
341
9
114
0.78
0.20
2.3
2.4
—
25.52
—
0
10
46
426
1.11
0.20
1.5
1.6
1.86
2.23
g/l
0.92
29
244
32
290
1.13
0.20
1.2
1.7
—
—
—
0
0
6
50
1.21
0.20
1.3
1.1
—
—
—
0
0
43
464
0.90
0.19
1.8
1.5
0.70
1.86
u/ml
1.13
13
115
129
1257
1.11
0.19
4.1
3.9
1.37
1.23
mmol/l
1.21
119
1182
26
234
1.13
0.18
1.3
1.5
262.86
440.00
titre
—
7
54
68
646
1.09
0.18
3.4
2.7
—
—
estimate
—
0
0
5
69
0.72
0.17
1.0
1.2
—
—
—
0
0
36
332
1.11
0.17
1.8
2.4
0.89
1.47
mg/l
0.75
23
268
13
112
1.17
0.15
7.9
5.3
7.39
7.42
ph
1.12
13
88
29
267
1.10
0.14
1.2
1.3
10.86
6.19
u/ml
—
10
101
9
109
0.82
0.13
1.4
1.8
—
—
—
0
0
138
1358
1.09
0.12
5.4
5.0
2.81
2.73
mmol/l
0.51
132
1286
16
143
1.13
0.12
1.3
1.4
—
—
—
0
0
132
1341
0.93
0.11
5.0
4.4
1.44
1.46
mmol/l
0.25
124
1267
49
469
1.06
0.10
3.1
3.6
21.44
160.38
ng/l
0.51
32
294
6
57
1.05
0.08
4.7
5.7
37.07
36.94
°c
—
6
57
6
71
0.84
0.08
2.0
2.1
—
—
—
0
0
6
71
0.84
0.08
2.8
1.5
—
3.89
—
0
14
163
1618
1.21
0.08
28.6
20.9
135.44
136.51
g/l
0.48
163
1602
163
1618
1.21
0.08
29.0
21.2
40.13
40.80
%
0.81
163
1601
163
1618
1.21
0.08
28.3
20.6
29.99
30.11
pg
0.45
163
1603
163
1617
1.23
0.08
28.3
20.7
89.91
90.08
fl
0.18
163
1602
8
73
1.10
0.07
1.3
1.2
—
—
—
0
0
9
86
1.05
0.07
1.1
1.1
—
—
—
0
0
9
88
1.02
0.07
3.0
2.1
—
—
—
0
0
57
587
0.96
0.07
2.1
1.9
1.27
1.34
mmol/l
0.35
45
505
15
162
0.92
0.06
2.6
2.7
0.77
0.71
ug/l
—
9
99
10
90
1.12
0.05
7.9
6.0
—
—
—
0
0
11
120
0.91
0.05
1.8
1.7
—
—
—
0
0
134
1328
1.04
0.04
4.5
4.4
5.90
5.75
mmol/l
0.45
126
1240
130
1288
1.04
0.04
25.3
17.5
333.14
333.21
g/l
0.03
130
1283
18
170
1.07
0.04
1.8
1.7
—
—
—
0
0
17
161
1.06
0.03
1.8
1.6
—
—
—
0
0
37
361
1.03
0.02
2.1
1.8
—
—
—
0
0
10
107
0.93
0.02
1.4
1.4
—
—
—
0
0
12
127
0.94
0.01
1.8
1.7
—
—
—
0
0
46
453
1.02
0.01
4.3
2.9
0.00
0.01
estimate
0.50
21
150
59
597
0.98
0.01
5.3
3.4
0.00
0.02
estimate
0.74
21
151
12
126
0.95
0.00
1.8
1.7
—
—
—
0
0
12
126
0.95
0.00
1.8
1.7
—
—
—
0
0
14
143
0.98
0.00
2.5
3.4
0.24
0.22
g/l
0.42
14
132
135
1347
1.01
0.00
4.9
4.5
4.67
4.61
mmol/l
0.31
128
1280
45
447
1.01
0.00
2.6
2.4
—
—
—
0
0
47
467
1.01
0.00
1.6
1.6
—
—
—
0
0
56
565
0.99
0.00
3.3
2.7
—
—
—
0
0
12
125
0.96
0.00
1.8
1.7
—
—
—
0
0
5
50
1.00
0.00
1.0
1.3
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.0
—
4.97
—
0
6
0
5
0.00
-0.00
0.0
1.4
—
—
—
0
0
0
8
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.0
—
—
—
0
0
5
55
0.91
-0.00
1.2
1.5
—
—
—
0
0
0
8
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.3
—
—
—
0
0
0
6
0.00
-0.00
0.0
13.2
—
15.53
—
0
6
9
92
0.98
-0.00
2.2
2.0
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.2
—
—
—
0
0
0
7
0.00
-0.00
0.0
1.0
—
144.21
—
0
7
0
7
0.00
-0.00
0.0
1.1
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.8
—
—
—
0
0
0
5
0.00
-0.00
0.0
4.0
—
51.00
—
0
5
0
7
0.00
-0.00
0.0
6.7
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.2
—
—
—
0
0
5
49
1.02
-0.00
1.4
1.4
—
—
—
0
0
6
65
0.92
-0.00
5.2
2.4
—
—
—
0
0
0
5
0.00
-0.00
0.0
2.4
—
142.60
—
0
5
0
6
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.0
—
—
—
0
0
9
93
0.97
-0.00
3.0
3.7
—
—
—
0
0
0
9
0.00
-0.00
0.0
1.1
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
8
0.00
-0.00
0.0
2.0
—
62.88
—
0
8

Mortality – FinRegistry

This endpoint is excluded (different definition than used in FinnGen).

Relationships between endpoints

Index endpoint: Q17_CONGENITAL_CATARACT – Congenital cataract

GWS hits: -

This endpoint is excluded (different definition than used in FinnGen).