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Congenital cataract

Endpoint Browser PheWeb

Q17_CONGENITAL_CATARACT

Endpoint definition

↥

Report an error or suggest an improvement for this endpoint codes

Endpoint definition steps

FinnGen

Phenotype data

519972

1. Apply sex-specific rule

None

519972

2. Check conditions

None

519972

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.

167

4. Check minimum number of events

None

167

5. Include endpoints

None

167

6. Filter based on genotype QC (FinnGen only)

158

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 158 99 59
Unadjusted period prevalence (%) 0.03 0.04 0.03
Median age at first event (years) 34.51 34.43 34.65

-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
167
Matched controls
1670
Code
Vocabulary
Description
Odds Ratio
-log10(p)
N matched cases
N matched controls
Q12.0
ICD-10 Finland
Congenital cataract
+∞
241.5
167
*
Z96.1
ICD-10 Finland
Presence of intraocular lens
15.8
61.3
64
63
H26.4
ICD-10 Finland
After-cataract
12.1
32.4
36
37
H27.0
ICD-10 Finland
Aphakia
380.2
32.0
31
*
S01CA01
ATC
dexamethasone and antiinfectives; ophthalmic
5.7
27.8
84
253
CJE20
NOMESCO Finland
Phakoemulsification with implantation of artificial lens in posterior chamber
6.1
27.5
66
162
CJB10
NOMESCO Finland
Laser discission of secondary cataract
10.4
24.0
29
33
S01ED51
ATC
timolol, combinations; ophthalmic
9.4
21.6
28
35
114
Kela drug reimbursment
Glaucoma
8.9
20.6
28
37
7433A
ICD-9 Finland
Congenital anomalies of eye, Congenital cataract and lens anomalies
+∞
19.1
18
*
CKD60
NOMESCO Finland
Anterior vitrectomy
112.9
19.0
20
*
74439
ICD-8 Finland
Congenital anomalies of eye, Cataracta NUD
175.8
15.8
16
*
ZXA00
NOMESCO Finland
Right side
3.9
15.2
60
208
H40.5
ICD-10 Finland
Glaucoma secondary to other eye disorders
62.6
15.1
17
*
H26.00
ICD-10 Finland
Infantile, juvenile and presenile cataract
+∞
14.8
14
*
XCK10
NOMESCO Finland
Photography of fundus of eye
5.9
14.7
29
57
S01ED01
ATC
timolol; ophthalmic
18.3
13.9
21
13
WX140
NOMESCO Finland
Parabulbar anesthesy
13.8
13.6
23
19
XCD00
NOMESCO Finland
Clinical examination of eye in general anaesthesia
140.1
12.6
13
*
XCW99
NOMESCO Finland
Other investigative procedure of eye
4.7
11.7
30
74
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
*
TCG10
NOMESCO Finland
Removal of sutures from cornea
+∞
11.6
11
*
H55
ICD-10 Finland
Nystagmus and other irregular eye movements
37.9
11.5
14
*
Z01.0
ICD-10 Finland
Examination of eyes and vision
3.4
10.7
48
177
3793A
ICD-9 Finland
Other disorders of eye, Aphakia and other disorders of lens[APHAKIA]
117.1
10.5
11
*
H26.02
ICD-10 Finland
Presenil cataract
20.4
10.5
15
8
S01EE01
ATC
latanoprost; ophthalmic
9.1
10.2
21
26
H54.2
ICD-10 Finland
Moderate visual impairment, binocular
42.9
10.1
12
*
H53.0
ICD-10 Finland
Amblyopia ex anopsia
21.7
10.0
14
7
H26.01
ICD-10 Finland
Infantile, juvenile and presenile cataract
58.5
9.8
11
*
H33.0
ICD-10 Finland
Retinal detachment with retinal break
12.5
9.3
16
14
ZXD10
NOMESCO Finland
Scheduled procedure
2.7
9.1
74
377
ZXA10
NOMESCO Finland
Bilateral
3.2
8.9
44
170
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
8.4
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
23.4
8.1
11
5
ZXD20
NOMESCO Finland
Day surgery
3.3
7.8
33
116
H50.1
ICD-10 Finland
Divergent concomitant strabismus
26.4
7.7
10
*
ZXA05
NOMESCO Finland
Left side
2.9
7.5
44
186
WX408
NOMESCO Finland
General anesthesy, balanced
2.7
7.4
53
249
S01CA02
ATC
prednisolone and antiinfectives; ophthalmic
31.5
7.2
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
3.2
6.9
30
107
S01EC04
ATC
brinzolamide; ophthalmic
7.4
6.7
15
22
S01AX11
ATC
[U] ofloxacin
7.5
6.4
14
20
ZXE00
NOMESCO Finland
One hour or less
2.3
6.4
77
454
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
*

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
55
328
2.01
4.07
3.9
3.8
7.40
7.40
ph
—
10
56
70
468
1.85
3.62
6.2
4.7
35.41
36.78
g/l
0.98
63
447
30
148
2.25
3.59
1.5
1.6
—
—
—
0
0
35
189
2.08
3.34
2.5
3.0
2.46
2.45
mmol/l
0.21
30
166
5
5
10.25
3.00
1.4
1.4
—
—
—
0
0
5
5
10.25
3.00
1.4
1.2
—
—
—
0
0
78
564
1.72
2.95
12.0
7.3
1.22
1.22
mmol/l
0.22
68
484
44
269
1.86
2.93
5.5
3.9
—
—
—
0
0
49
319
1.76
2.64
4.0
4.5
93.51
93.96
%
0.05
49
312
56
384
1.69
2.49
4.4
3.1
2.37
2.37
mmol/l
0.06
51
340
58
410
1.64
2.27
2.3
1.7
100.08
96.64
pmol/l
0.26
25
210
91
720
1.58
2.21
8.5
7.0
1.85
1.92
e9/l
0.52
84
642
37
233
1.76
2.21
1.6
1.4
21.93
22.00
nmol/l
0.01
31
197
19
95
2.13
2.21
4.1
11.6
24.31
25.11
mmol/l
0.45
19
95
5
10
5.12
2.08
1.2
1.0
14.50
21.11
umol/l
—
5
10
7
20
3.61
2.08
2.7
3.6
5.23
5.06
kpa
—
7
20
7
20
3.61
2.08
2.7
3.6
9.53
8.67
kpa
—
7
20
87
691
1.54
2.02
7.6
7.0
0.59
0.55
e9/l
0.78
78
599
87
692
1.54
2.00
7.5
7.0
0.04
0.04
e9/l
0.04
78
600
5
11
4.65
1.95
1.6
1.3
—
—
—
0
0
89
714
1.53
1.95
8.3
7.4
0.19
0.19
e9/l
0.06
82
627
6
17
3.62
1.85
4.2
3.2
—
—
—
0
0
113
969
1.51
1.71
7.3
6.9
87.24
81.96
u/l
0.25
107
908
20
113
1.87
1.69
8.0
9.1
—
—
—
0
0
97
808
1.48
1.68
10.6
10.2
4.27
3.94
e9/l
0.42
88
698
21
121
1.84
1.68
3.8
3.1
—
—
—
0
0
6
19
3.24
1.67
2.7
12.2
—
—
—
0
0
81
655
1.46
1.61
8.5
7.4
—
—
—
0
0
34
228
1.62
1.61
1.2
1.3
61.49
37.13
iu/ml
—
8
67
19
108
1.86
1.58
1.2
1.3
167.56
155.94
iu/ml
—
9
40
48
351
1.52
1.57
2.9
2.7
—
—
—
0
0
87
718
1.44
1.53
9.9
4.7
6.69
6.36
mmol/l
0.76
78
649
50
372
1.49
1.50
2.8
2.6
—
—
—
0
0
5
16
3.19
1.45
2.4
13.7
73.00
68.16
%
—
5
16
149
1379
1.75
1.43
16.7
11.5
28.42
19.82
mg/l
1.68
126
1047
111
966
1.44
1.42
4.4
4.2
10.30
9.14
mm/h
0.54
105
893
60
468
1.44
1.41
11.2
9.7
1.04
1.16
inr
1.73
19
134
10
47
2.20
1.36
16.7
7.9
—
—
—
0
0
36
257
1.51
1.31
2.8
2.5
7.01
5.45
e6/l
0.47
30
228
6
25
2.45
1.25
3.3
2.8
3.34
4.57
e9/l
—
6
25
6
25
2.45
1.25
3.3
3.4
56.33
59.96
%
—
6
25
126
1135
1.45
1.24
4.7
4.7
38.73
38.12
mmol/mol
0.28
114
1060
5
19
2.68
1.22
1.0
1.4
0.31
0.31
g/l
—
5
13
5
19
2.68
1.22
1.0
1.4
2.33
2.22
g/l
—
5
13
5
19
2.68
1.22
1.0
1.4
—
—
—
0
0
5
19
2.68
1.22
1.0
1.4
4.90
6.61
g/l
—
5
14
46
351
1.43
1.20
2.9
2.8
0.10
0.28
e6/l
1.76
33
256
14
80
1.82
1.17
5.1
3.3
80.80
71.35
e9/l
—
9
66
34
246
1.48
1.16
2.4
2.7
507.62
539.16
mosm/kgh2o
0.36
29
212
118
1057
1.40
1.15
4.2
3.8
14.64
14.64
pmol/l
0.01
109
964
5
21
2.42
1.10
1.2
1.9
285.80
282.36
mosm/kgh2o
—
5
14
46
357
1.40
1.09
3.3
2.9
8.23
8.16
mmol/l
0.03
39
316
47
367
1.39
1.07
5.8
7.4
—
—
—
0
0
78
665
1.32
1.00
8.9
8.9
0.00
0.00
e9/l
0.50
60
533
0
29
0.00
0.98
0.0
1.1
—
—
—
0
0
0
30
0.00
0.98
0.0
1.2
—
—
—
0
0
14
85
1.71
0.98
2.0
2.9
12735.50
3585.31
u/l
—
8
32
37
283
1.39
0.95
3.4
3.1
29.38
72.84
mg/l
1.35
27
181
10
55
1.87
0.94
10.1
3.3
—
—
—
0
0
27
197
1.44
0.89
6.8
3.8
64.71
160.61
ng/l
0.56
22
128
38
296
1.37
0.88
4.2
3.7
3.50
12.22
mg/mmol
1.94
26
180
56
465
1.31
0.84
3.6
3.6
129.87
27.94
e6/l
0.78
39
307
47
382
1.32
0.82
3.5
3.0
16.12
47.05
e6/l
1.07
34
288
151
1439
1.51
0.81
14.6
10.1
—
—
—
0
0
6
33
1.85
0.80
1.0
2.4
—
—
—
0
0
7
41
1.74
0.71
1.3
1.2
—
—
—
0
0
44
362
1.29
0.70
1.4
1.5
1.85
2.20
g/l
0.75
27
207
70
616
1.23
0.64
5.8
6.5
22.02
11.33
umol/l
0.66
65
584
133
1257
1.29
0.61
5.2
4.4
1.92
1.84
mu/l
0.34
126
1163
0
20
0.00
0.61
0.0
3.5
—
1.38
—
0
20
0
20
0.00
0.61
0.0
2.0
—
—
—
0
0
0
21
0.00
0.60
0.0
2.1
—
1.34
—
0
15
0
22
0.00
0.60
0.0
2.0
—
587.20
—
0
15
19
141
1.39
0.59
1.2
1.2
—
—
—
0
0
16
116
1.42
0.57
1.2
1.6
—
—
—
0
0
10
65
1.57
0.57
1.1
1.2
—
—
—
0
0
6
38
1.60
0.55
7.3
10.9
—
—
—
0
0
88
802
1.21
0.55
4.2
3.4
—
—
—
0
0
10
66
1.55
0.54
1.1
1.7
—
—
—
0
0
22
171
1.33
0.53
2.0
1.6
1260.17
1268.80
nmol/l
0.01
12
134
35
292
1.25
0.51
1.8
2.4
0.89
1.36
mg/l
0.59
23
234
16
120
1.37
0.48
7.1
9.0
105.00
104.01
mmol/l
0.36
16
120
27
220
1.27
0.47
2.0
1.6
—
—
—
0
0
26
211
1.28
0.47
1.8
2.4
297.37
99.70
ug/g
0.37
19
156
7
49
1.45
0.46
2.0
2.1
—
—
—
0
0
21
166
1.30
0.46
2.8
1.8
—
—
—
0
0
57
506
1.19
0.46
1.7
1.9
—
—
—
0
0
0
15
0.00
0.41
0.0
1.1
—
—
—
0
0
0
15
0.00
0.41
0.0
1.5
—
—
—
0
0
0
16
0.00
0.41
0.0
1.5
—
—
—
0
0
8
60
1.35
0.41
8.9
6.9
128.75
131.08
g/l
—
8
60
0
17
0.00
0.41
0.0
3.8
—
8.27
—
0
17
41
359
1.19
0.38
5.3
3.6
0.00
0.00
estimate
-0.00
17
143
24
200
1.23
0.36
2.8
2.6
3.79
2.85
e6/l
0.17
11
107
6
43
1.41
0.35
1.0
1.2
—
—
—
0
0
21
252
0.81
0.35
2.5
1.8
—
—
—
0
0
6
44
1.38
0.35
1.3
1.1
—
—
—
0
0
147
1430
1.23
0.33
11.0
9.3
26.14
26.10
u/l
0.01
139
1388
7
55
1.28
0.30
3.0
7.2
0.59
0.70
%
—
7
55
8
106
0.74
0.30
2.4
2.3
—
29.62
—
0
8
26
299
0.85
0.29
2.0
3.6
—
—
—
0
0
19
159
1.22
0.28
1.3
1.2
—
—
—
0
0
12
95
1.28
0.27
8.0
5.7
5.16
5.11
kpa
0.10
12
90
5
75
0.66
0.26
1.8
1.8
—
—
—
0
0
41
371
1.14
0.26
2.5
2.3
51.44
57.67
u/l
0.62
36
347
10
78
1.30
0.25
7.4
6.3
—
—
—
0
0
5
39
1.29
0.23
1.2
3.0
—
—
—
0
0
95
909
1.10
0.22
5.0
4.1
—
—
—
0
0
159
1567
1.31
0.22
24.5
17.2
39.75
40.50
%
0.72
153
1496
8
103
0.77
0.22
16.1
4.3
—
—
—
0
0
0
11
0.00
0.21
0.0
3.7
—
1.24
—
0
11
0
11
0.00
0.21
0.0
1.5
—
—
—
0
0
0
11
0.00
0.21
0.0
2.5
—
33045.91
—
0
11
0
11
0.00
0.21
0.0
3.1
—
263.33
—
0
6
0
11
0.00
0.21
0.0
4.0
—
2.76
—
0
11
0
10
0.00
0.21
0.0
1.4
—
—
—
0
0
0
12
0.00
0.21
0.0
1.0
—
293.71
—
0
7
0
12
0.00
0.21
0.0
1.2
—
—
—
0
0
0
13
0.00
0.21
0.0
1.2
—
—
—
0
0
30
332
0.88
0.21
1.6
1.7
1.24
1.34
mmol/l
0.37
23
281
0
14
0.00
0.20
0.0
3.4
—
—
—
0
0
0
14
0.00
0.20
0.0
3.4
—
4.00
—
0
14
0
14
0.00
0.20
0.0
3.4
—
105.21
—
0
14
19
165
1.17
0.20
1.2
1.3
—
—
—
0
0
38
413
0.90
0.20
2.5
2.1
—
—
—
0
0
26
233
1.14
0.19
1.2
1.2
11.86
6.64
u/ml
—
9
89
5
68
0.73
0.17
2.2
2.1
—
—
—
0
0
8
69
1.17
0.16
1.1
1.1
—
—
—
0
0
41
383
1.09
0.15
2.5
2.3
—
—
—
0
0
22
198
1.13
0.15
1.2
1.4
224.00
419.09
titre
—
5
44
15
133
1.14
0.12
1.6
1.5
—
—
—
0
0
32
299
1.09
0.12
4.4
3.4
—
—
—
0
0
42
398
1.07
0.11
1.7
1.4
0.71
1.68
u/ml
0.85
11
98
5
43
1.17
0.10
1.4
1.4
—
—
—
0
0
5
43
1.17
0.10
1.0
1.5
—
—
—
0
0
5
45
1.11
0.10
2.6
1.4
—
—
—
0
0
13
145
0.89
0.10
1.4
1.1
—
—
—
0
0
5
47
1.07
0.09
1.6
1.6
—
—
—
0
0
5
47
1.07
0.09
1.0
1.4
41.40
35.85
nmol/l
—
5
47
17
155
1.11
0.09
1.2
1.9
—
—
—
0
0
39
371
1.07
0.09
3.6
2.9
—
—
—
0
0
7
65
1.08
0.08
1.3
1.3
—
—
—
0
0
64
659
0.95
0.08
4.7
3.3
0.00
0.02
estimate
0.50
17
140
13
143
0.90
0.07
2.6
2.5
0.86
0.71
ug/l
—
6
92
8
74
1.09
0.07
2.4
2.1
—
—
—
0
0
8
74
1.09
0.07
1.0
1.1
—
—
—
0
0
9
88
1.02
0.07
1.4
1.4
—
—
—
0
0
11
99
1.12
0.06
1.5
1.4
—
—
—
0
0
64
652
0.97
0.04
5.8
4.5
0.00
0.00
estimate
-0.00
18
146
16
151
1.07
0.03
1.6
1.6
—
—
—
0
0
33
320
1.04
0.03
2.0
1.7
—
—
—
0
0
122
1230
0.97
0.03
4.1
3.8
1.46
1.47
mmol/l
0.10
110
1157
14
132
1.07
0.02
1.2
1.3
—
—
—
0
0
124
1231
1.03
0.02
3.8
3.8
6.02
5.75
mmol/l
0.86
113
1147
119
1181
1.03
0.02
3.7
3.5
1.34
1.23
mmol/l
0.75
108
1107
11
103
1.07
0.02
1.6
1.7
—
—
—
0
0
11
103
1.07
0.02
1.6
1.7
—
—
—
0
0
11
103
1.07
0.02
1.6
1.7
—
—
—
0
0
25
243
1.03
0.01
1.2
1.6
—
—
—
0
0
126
1253
1.02
0.01
4.5
4.2
2.83
2.77
mmol/l
0.27
117
1177
65
657
0.98
0.01
4.7
3.3
0.00
0.00
estimate
-0.00
18
150
11
104
1.06
0.01
1.6
1.7
—
—
—
0
0
42
414
1.02
0.00
2.7
3.4
22.83
24.42
ng/l
0.10
26
249
41
406
1.01
0.00
1.6
1.6
—
—
—
0
0
124
1239
1.00
0.00
4.1
3.9
4.71
4.64
mmol/l
0.33
113
1172
46
461
1.00
0.00
2.7
2.4
—
—
—
0
0
10
98
1.02
0.00
1.7
1.7
—
—
—
0
0
11
105
1.05
0.00
1.1
1.5
—
—
—
0
0
0
5
0.00
0.00
0.0
1.2
—
16.42
—
0
5
0
7
0.00
0.00
0.0
1.0
—
1665.86
—
0
7
0
7
0.00
0.00
0.0
1.4
—
—
—
0
0
0
5
0.00
0.00
0.0
4.0
—
51.00
—
0
5
0
7
0.00
0.00
0.0
1.0
—
—
—
0
0
0
5
0.00
0.00
0.0
2.0
—
—
—
0
0
0
7
0.00
0.00
0.0
1.1
—
—
—
0
0
0
5
0.00
0.00
0.0
1.0
—
—
—
0
0
0
5
0.00
0.00
0.0
1.4
—
—
—
0
0
0
7
0.00
0.00
0.0
2.1
—
62.29
—
0
7
0
7
0.00
0.00
0.0
5.6
—
—
—
0
0
0
7
0.00
0.00
0.0
1.4
—
0.87
—
0
7
0
5
0.00
0.00
0.0
15.6
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
9
0.00
-0.00
0.0
1.2
—
—
—
0
0
12
120
1.00
-0.00
2.5
3.4
0.24
0.22
g/l
0.45
12
111
0
6
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
8
0.00
-0.00
0.0
1.5
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.2
—
—
—
0
0
9
93
0.97
-0.00
3.0
3.7
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.3
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.0
—
4.97
—
0
6
0
6
0.00
-0.00
0.0
1.0
—
149.75
—
0
6
8
89
0.89
-0.00
1.3
1.8
—
—
—
0
0
6
60
1.00
-0.00
1.0
1.1
—
—
—
0
0
0
8
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
8
0.00
-0.00
0.0
1.0
—
—
—
0
0
5
54
0.92
-0.00
6.0
2.3
—
—
—
0
0

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).