Other congenital malformations of male genital organs

Q17_OTHER_CONGEN_MALFO_MALE_GENITAL_ORGANS

Endpoint definition

Endpoint definition steps

FinnGen

Phenotype data

520210

1. Apply sex-specific rule

only males

226837

2. Check conditions

None

226837

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

Registry filters:

  • Hospital discharge: ICD-10 Q55
  • Cause of death: ICD-10 Q55

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

264

4. Check minimum number of events

None

264

5. Include endpoints

None

264

6. Filter based on genotype QC (FinnGen only)

264

Control definitions (FinnGen only)

Control exclude
Q17_CONGEN_MALFO_GENITAL_ORGANS

Extra metadata

Level in the ICD hierarchy
3
First used in FinnGen datafreeze
DF12
Parent code in ICD-10
Q5
Name in latin
Aliae malformationes congenitae organorum genitalium masculinorum

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 264 - 264
Unadjusted period prevalence (%) 0.12 - 0.12
Median age at first event (years) 8.38 - 8.38

-FinnGen-

Age distribution of first events

-FinnGen-

Year distribution of first events

-FinnGen-

Cumulative Incidence Function

CodeWAS (R11)

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
244
Matched controls
2434
Code
Vocabulary
Description
Odds Ratio
-log10(p)
N matched cases
N matched controls
Q55.20
ICD-10 Finland
Retractile testis
2098.9
210.0
174
*
Q53.1
ICD-10 Finland
Undescended testicle, unilateral
+∞
55.3
51
*
KFH00
NOMESCO Finland
Operation for undescended or ectopic testis
456.5
40.3
39
*
KFH10
NOMESCO Finland
Orchiopexy
54.5
24.9
29
6
Q55.6
ICD-10 Finland
Other congenital malformations of penis
+∞
21.1
20
*
Q55.1
ICD-10 Finland
Hypoplasia of testis and scrotum
+∞
13.7
13
*
Q55.00
ICD-10 Finland
Congenital Monorkism
+∞
12.6
12
*
Q53.2
ICD-10 Finland
Undescended testicle, bilateral
+∞
11.5
11
*
Q55.9
ICD-10 Finland
Congenital malformation of male genital organ, unspecified
+∞
10.5
10
*
Q55.4
ICD-10 Finland
Other congenital malformations of vas deferens, epididymis, seminal vesicles and prostate
+∞
10.5
10
*
Q55.2
ICD-10 Finland
Other congenital malformations of testis and scrotum
+∞
7.3
7
*
Q53.9
ICD-10 Finland
Undescended testicle, unspecified
+∞
7.3
7
*
G03GA01
ATC
chorionic gonadotrophin; parenteral
20.7
7.2
10
5
KF8AE
NOMESCO Finland
Ultrasound examination of scrotum
4.2
6.8
25
65
KFH50
NOMESCO Finland
Insertion of prosthetic replacement for testis
17.3
6.8
10
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
54
281
2.16
5.49
3.2
2.5
12.9
13.8
nmol/l
0.33
46
236
33
150
2.37
4.60
2.6
2.2
4.8
4.0
u/l
0.35
23
99
26
115
2.40
3.85
2.7
2.3
9.2
5.4
iu/l
0.79
20
66
5
6
8.46
2.76
3.0
1.7
63.6
46.8
nmol/l
—
5
6
111
892
1.42
2.06
11.8
13.8
1.2
1.2
mmol/l
0.75
102
846
6
17
3.59
1.85
1.2
1.4
—
—
—
0
0
113
928
1.38
1.79
11.0
12.7
1.2
1.2
mmol/l
0.35
102
851
10
43
2.38
1.62
6.1
6.0
1.5
2.2
ug/l
—
10
43
5
14
3.62
1.62
1.0
1.0
—
—
—
0
0
29
187
1.62
1.53
4.8
2.7
—
—
—
0
0
144
1249
1.34
1.53
4.3
4.0
36.1
38.1
mmol/mol
2.39
138
1186
144
1250
1.33
1.52
3.7
3.0
14.7
14.7
pmol/l
0.14
129
1159
198
1808
1.38
1.46
13.1
15.2
4.0
4.0
mmol/l
0.15
189
1753
5
16
3.16
1.44
3.6
1.6
2.0
2.7
nmol/l
—
5
16
168
1500
1.33
1.42
4.1
3.3
2.1
2.0
mu/l
0.54
154
1396
203
1869
1.37
1.36
14.2
17.5
13.3
13.2
%
1.16
196
1841
54
409
1.40
1.35
2.7
4.8
7.3
7.4
ph
—
8
57
51
385
1.40
1.30
10.0
8.4
—
—
—
0
0
11
55
2.04
1.29
1.5
1.7
—
—
—
0
0
81
661
1.33
1.27
5.9
5.4
13.0
36.7
e6/l
0.44
58
477
73
587
1.34
1.27
5.2
4.5
38.1
124.3
e6/l
0.37
60
467
6
25
2.43
1.25
1.0
1.0
—
—
—
0
0
196
1808
1.33
1.20
13.3
15.2
139.5
139.5
mmol/l
0.16
189
1765
85
705
1.30
1.18
3.1
3.5
0.0
0.0
estimate
—
9
108
8
39
2.08
1.16
2.0
4.6
3.9
3.0
e9/l
—
8
39
68
548
1.32
1.16
5.4
4.2
0.3
0.2
e6/l
0.14
55
425
42
314
1.40
1.14
2.7
5.1
1.2
1.9
mg/l
0.66
31
223
8
40
2.03
1.13
2.1
5.1
57.8
47.6
%
—
8
40
69
561
1.31
1.10
3.0
3.4
—
—
—
0
0
7
33
2.15
1.06
2.6
2.2
—
—
—
0
0
57
454
1.33
1.05
2.4
3.3
2.4
2.4
mmol/l
0.01
50
419
44
337
1.37
1.05
2.2
3.4
1.0
1.0
kg/l
—
8
50
25
172
1.50
1.04
1.6
2.8
—
—
—
0
0
50
392
1.34
1.03
3.6
5.0
—
—
—
0
0
115
1010
1.25
0.98
4.4
4.0
—
—
—
0
0
82
693
1.27
0.97
3.1
3.5
0.0
0.0
estimate
—
9
108
67
553
1.28
0.96
5.3
4.1
—
—
—
0
0
0
32
0.00
0.95
0.0
1.8
—
11.8
—
0
32
53
425
1.31
0.94
11.0
9.1
5.2
5.0
kpa
0.57
48
404
17
250
0.66
0.89
2.2
1.7
—
—
—
0
0
16
104
1.57
0.86
1.8
3.0
—
—
—
0
0
26
190
1.41
0.83
1.3
2.0
—
—
—
0
0
16
234
0.66
0.82
1.3
1.5
—
274.7
—
0
30
7
123
0.56
0.80
2.6
2.0
—
—
—
0
0
5
97
0.51
0.79
1.0
1.1
—
—
—
0
0
0
25
0.00
0.79
0.0
7.1
—
—
—
0
0
0
25
0.00
0.79
0.0
1.0
—
—
—
0
0
81
699
1.23
0.79
4.8
5.0
0.0
0.0
estimate
—
10
121
47
381
1.28
0.78
3.6
3.3
529.7
612.7
mosm/kgh2o
1.60
41
338
58
483
1.26
0.78
5.4
5.6
1.0
1.2
inr
3.87
16
118
61
715
0.81
0.73
1.5
1.7
2.0
1.9
g/l
0.24
32
377
210
1999
1.25
0.72
10.0
9.0
—
—
—
0
0
7
40
1.77
0.72
1.3
1.4
—
—
—
0
0
30
232
1.33
0.70
1.7
2.2
—
—
—
0
0
46
379
1.26
0.68
4.0
3.9
1.3
1.7
ug/l
0.67
36
338
42
509
0.79
0.67
2.0
1.8
—
—
—
0
0
14
201
0.68
0.67
1.6
1.4
—
—
—
0
0
5
28
1.80
0.66
1.2
1.0
—
—
—
0
0
34
271
1.29
0.65
1.4
2.0
—
—
—
0
0
64
738
0.82
0.65
1.9
1.7
1.8
2.8
u/ml
0.34
12
120
34
272
1.29
0.63
1.4
2.1
—
—
—
0
0
21
157
1.37
0.61
1.4
1.7
373.3
454.3
pmol/l
0.72
15
141
0
20
0.00
0.60
0.0
1.2
—
—
—
0
0
0
21
0.00
0.60
0.0
1.1
—
248.3
—
0
21
44
367
1.24
0.59
5.7
6.6
—
—
—
0
0
113
1031
1.17
0.58
7.8
8.3
6.4
6.4
mmol/l
0.03
106
991
6
37
1.64
0.56
5.5
5.5
—
—
—
0
0
38
315
1.24
0.54
2.6
4.0
0.0
0.0
estimate
—
9
108
33
269
1.26
0.54
1.4
1.9
—
—
—
0
0
6
40
1.51
0.52
5.7
5.4
—
—
—
0
0
19
145
1.33
0.50
10.8
15.7
97.1
96.1
%
0.60
19
138
15
199
0.74
0.48
2.8
6.0
62.8
66.1
e9/l
—
10
130
16
120
1.35
0.47
1.1
1.2
—
—
—
0
0
20
156
1.31
0.46
11.0
14.7
13.8
14.8
kpa
0.41
20
147
20
156
1.31
0.46
11.0
14.8
5.1
5.3
kpa
0.79
20
146
5
83
0.59
0.46
1.0
1.3
—
—
—
0
0
5
84
0.59
0.46
1.0
1.3
—
—
—
0
0
46
397
1.19
0.46
3.5
3.4
—
—
—
0
0
128
1195
1.14
0.46
6.5
7.1
112.7
121.5
u/l
0.55
116
1135
32
268
1.22
0.43
1.5
2.0
—
—
—
0
0
55
487
1.16
0.41
1.2
1.4
—
—
—
0
0
5
33
1.52
0.41
4.0
5.0
—
—
—
0
0
5
33
1.52
0.41
2.0
2.5
—
—
—
0
0
8
59
1.37
0.41
8.0
7.5
—
—
—
0
0
0
16
0.00
0.41
0.0
4.7
—
—
—
0
0
0
17
0.00
0.41
0.0
1.0
—
—
—
0
0
0
17
0.00
0.41
0.0
1.6
—
5.6
—
0
17
135
1272
1.13
0.40
3.1
2.8
5.6
5.7
mmol/l
0.23
121
1166
0
18
0.00
0.40
0.0
1.3
—
20.0
—
0
5
0
18
0.00
0.40
0.0
1.3
—
52.2
—
0
7
20
160
1.27
0.40
11.0
14.5
-0.3
0.5
mmol/l
0.47
14
136
0
19
0.00
0.39
0.0
1.5
—
—
—
0
0
8
115
0.69
0.38
1.4
1.8
—
—
—
0
0
9
71
1.28
0.36
2.8
10.5
—
—
—
0
0
56
502
1.15
0.36
2.6
2.1
—
—
—
0
0
30
255
1.20
0.36
1.5
2.0
—
—
—
0
0
5
76
0.65
0.36
1.8
5.8
—
—
—
0
0
12
155
0.76
0.34
1.2
1.2
—
—
—
0
0
6
45
1.34
0.34
1.0
1.7
—
17.5
—
0
11
19
156
1.23
0.32
1.6
1.4
—
—
—
0
0
7
54
1.30
0.30
1.4
1.4
—
—
—
0
0
7
55
1.28
0.30
1.0
1.1
—
—
—
0
0
8
108
0.73
0.29
1.8
1.7
—
—
—
0
0
46
414
1.13
0.29
3.1
3.6
131.6
131.3
ug/g
0.00
38
349
16
194
0.81
0.29
1.5
1.3
8.9
3.1
u/ml
—
10
140
31
271
1.16
0.28
1.8
1.9
—
—
—
0
0
37
329
1.14
0.28
1.4
1.6
—
—
—
0
0
206
2009
1.12
0.28
11.6
12.3
29.6
24.6
mg/l
0.96
149
1369
8
64
1.26
0.27
1.4
1.3
—
—
—
0
0
24
278
0.85
0.27
3.8
4.3
7.8
62.6
mg/mmol
0.51
19
207
8
66
1.22
0.27
3.8
13.8
23.0
24.3
mmol/l
—
8
60
130
1244
1.09
0.26
3.7
4.5
6.5
7.7
mm/h
0.86
119
1164
9
73
1.24
0.25
2.0
1.5
267.8
326.2
mu/l
—
9
73
10
78
1.29
0.24
4.0
4.5
—
—
—
0
0
149
1438
1.08
0.23
3.4
3.4
4.4
4.4
mmol/l
0.44
140
1368
5
38
1.32
0.23
3.0
8.0
—
—
—
0
0
5
39
1.29
0.23
1.4
1.5
—
—
—
0
0
21
182
1.17
0.22
2.0
2.1
—
—
—
0
0
5
41
1.22
0.22
2.4
8.5
—
—
—
0
0
0
11
0.00
0.21
0.0
3.8
—
4.5
—
0
11
0
11
0.00
0.21
0.0
1.0
—
—
—
0
0
0
10
0.00
0.21
0.0
1.4
—
—
—
0
0
0
10
0.00
0.21
0.0
1.1
—
—
—
0
0
0
10
0.00
0.21
0.0
2.1
—
—
—
0
0
0
10
0.00
0.21
0.0
1.1
—
—
—
0
0
0
12
0.00
0.21
0.0
1.5
—
10.9
—
0
12
0
12
0.00
0.21
0.0
2.2
—
—
—
0
0
0
12
0.00
0.21
0.0
2.2
—
—
—
0
0
213
2090
1.10
0.21
13.8
15.9
41.4
41.0
%
0.37
180
1868
17
145
1.18
0.21
2.0
1.5
—
—
—
0
0
0
13
0.00
0.21
0.0
1.0
—
—
—
0
0
0
13
0.00
0.21
0.0
1.1
—
—
—
0
0
13
108
1.21
0.20
2.6
3.7
—
—
—
0
0
0
14
0.00
0.20
0.0
1.2
—
—
—
0
0
0
14
0.00
0.20
0.0
1.1
—
—
—
0
0
0
14
0.00
0.20
0.0
1.6
—
35.0
—
0
14
0
14
0.00
0.20
0.0
1.0
—
—
—
0
0
0
14
0.00
0.20
0.0
1.1
—
6.5
—
0
14
6
50
1.20
0.20
1.2
1.1
—
—
—
0
0
10
122
0.81
0.19
2.1
1.2
—
—
—
0
0
10
81
1.24
0.19
15.7
23.0
—
—
—
0
0
201
1971
1.08
0.19
8.5
10.1
33.6
31.8
u/l
0.35
192
1918
31
281
1.12
0.18
3.2
4.0
189.4
1245.1
ng/l
2.03
22
193
15
174
0.85
0.18
1.1
1.2
0.6
3.7
u/ml
—
6
70
23
205
1.13
0.17
1.6
2.2
—
—
—
0
0
29
319
0.90
0.17
1.2
1.2
—
—
—
0
0
40
432
0.91
0.17
2.0
1.7
—
—
—
0
0
5
68
0.73
0.17
7.0
4.1
—
—
—
0
0
20
225
0.88
0.17
17.0
13.8
1.3
1.4
mmol/l
0.64
20
203
8
72
1.11
0.16
1.1
1.1
—
—
—
0
0
8
72
1.11
0.16
1.0
1.1
—
—
—
0
0
6
79
0.75
0.15
1.3
1.2
—
—
—
0
0
9
81
1.11
0.15
1.7
1.1
—
—
—
0
0
8
98
0.81
0.14
18.1
12.3
1.4
1.4
%
—
8
98
16
180
0.88
0.13
1.3
1.2
7.9
7.7
u/ml
0.01
11
139
40
375
1.08
0.13
1.7
1.7
101.5
100.2
pmol/l
0.06
19
193
23
210
1.10
0.12
2.7
2.6
0.5
0.7
ug/l
—
10
117
14
124
1.14
0.11
9.4
14.7
133.1
129.6
g/l
0.22
14
119
235
2330
1.08
0.10
16.3
18.0
142.4
140.6
g/l
0.92
229
2303
122
1193
1.04
0.10
6.5
12.2
0.2
0.2
e9/l
0.27
101
1004
5
45
1.11
0.10
2.6
10.3
—
—
—
0
0
16
176
0.90
0.09
1.3
1.2
3.8
1.9
u/ml
—
10
135
139
1365
1.04
0.09
3.2
3.2
1.3
1.3
mmol/l
0.34
131
1289
46
440
1.06
0.09
1.8
2.2
—
—
—
0
0
31
328
0.94
0.08
1.5
1.7
—
—
—
0
0
112
1096
1.04
0.08
5.9
11.5
0.5
0.7
%
1.85
104
1056
5
63
0.79
0.08
1.4
1.1
—
—
—
0
0
8
74
1.08
0.07
1.4
1.6
—
—
—
0
0
35
334
1.06
0.07
2.5
3.1
—
—
—
0
0
22
207
1.07
0.06
1.3
1.5
—
—
—
0
0
234
2327
1.05
0.05
16.1
17.8
253.8
255.2
e9/l
0.12
223
2230
234
2328
1.05
0.04
16.1
17.8
7.0
6.6
e9/l
1.53
223
2226
234
2328
1.05
0.04
16.0
17.7
29.4
29.4
pg
0.09
228
2300
115
1165
0.98
0.04
6.3
11.0
0.6
0.6
e9/l
0.70
95
950
68
667
1.03
0.04
3.0
3.5
117.9
113.5
ug/l
0.06
62
635
119
1176
1.02
0.04
6.0
11.1
33.7
34.1
%
0.11
111
1136
234
2329
1.04
0.04
16.1
17.7
4.9
4.8
e12/l
0.66
223
2227
117
1157
1.02
0.03
5.8
10.9
50.5
50.2
%
0.07
109
1120
115
1163
0.98
0.03
6.3
11.1
0.0
0.0
e9/l
1.03
95
950
128
1268
1.02
0.03
7.8
13.6
3.7
3.6
e9/l
0.32
100
1036
49
480
1.03
0.02
2.6
3.7
—
—
—
0
0
113
1119
1.02
0.02
5.8
11.3
3.3
3.4
%
0.22
104
1073
11
117
0.94
0.02
2.4
2.2
—
22.3
—
0
5
89
898
0.99
0.01
2.7
2.7
—
—
—
0
0
90
908
0.99
0.01
5.8
11.2
—
—
—
0
0
24
247
0.97
0.01
1.3
1.3
—
—
—
0
0
119
1198
0.99
0.01
6.2
11.1
2.3
2.2
e9/l
0.53
101
1009
114
1133
1.01
0.01
6.1
11.4
8.7
8.7
%
0.00
106
1089
39
384
1.02
0.00
2.5
3.1
78.1
50.2
ng/l
0.18
21
219
68
686
0.99
0.00
5.8
11.0
—
—
—
0
0
10
102
0.98
0.00
1.1
1.2
—
—
—
0
0
26
258
1.01
0.00
3.0
3.2
—
—
—
0
0
29
292
0.99
0.00
2.7
5.1
389.1
1856.3
umol/l
0.48
23
271
233
2328
1.01
0.00
16.1
17.7
86.8
86.8
fl
0.01
227
2299
45
447
1.01
0.00
8.6
10.7
1.8
1.3
mmol/l
0.73
34
361
10
97
1.03
0.00
1.8
1.5
—
—
—
0
0
30
295
1.02
0.00
10.2
15.0
5.8
6.1
mmol/l
0.13
30
289
43
425
1.01
0.00
11.7
11.6
—
—
—
0
0
144
1438
1.00
0.00
3.7
3.4
2.7
2.8
mmol/l
0.09
137
1348
109
1092
1.00
0.00
8.4
12.7
0.0
0.0
e9/l
0.66
86
810
143
1425
1.01
0.00
3.4
3.3
1.3
1.3
mmol/l
0.41
135
1342
0
7
0.00
0.00
0.0
2.1
—
—
—
0
0
7
79
0.88
0.00
4.7
4.4
—
—
—
0
0
5
50
1.00
0.00
1.6
1.4
—
—
—
0
0
0
7
0.00
0.00
0.0
1.6
—
—
—
0
0
0
9
0.00
0.00
0.0
1.3
—
—
—
0
0
0
7
0.00
0.00
0.0
1.3
—
129.0
—
0
7
6
62
0.97
0.00
3.2
2.5
—
—
—
0
0
7
77
0.91
0.00
3.3
3.8
—
—
—
0
0
0
6
0.00
0.00
0.0
8.5
—
—
—
0
0
0
6
0.00
0.00
0.0
1.2
—
—
—
0
0
0
5
0.00
0.00
0.0
1.0
—
516.2
—
0
5
6
62
0.97
0.00
3.2
2.5
—
—
—
0
0
0
6
0.00
0.00
0.0
1.2
—
—
—
0
0
6
62
0.97
0.00
3.2
2.5
—
—
—
0
0
0
5
0.00
0.00
0.0
3.4
—
72.0
—
0
5
6
62
0.97
0.00
3.2
2.5
—
—
—
0
0
0
5
0.00
0.00
0.0
2.0
—
—
—
0
0
0
8
0.00
0.00
0.0
2.1
—
—
—
0
0
0
8
0.00
0.00
0.0
1.0
—
—
—
0
0
5
54
0.92
0.00
2.2
2.7
—
—
—
0
0
0
6
0.00
0.00
0.0
1.2
—
—
—
0
0
0
8
0.00
0.00
0.0
1.5
—
—
—
0
0
0
5
0.00
0.00
0.0
4.2
—
141.2
—
0
5
0
6
0.00
0.00
0.0
5.8
—
—
—
0
0
8
82
0.97
0.00
1.1
1.2
—
—
—
0
0
0
8
0.00
0.00
0.0
1.1
—
—
—
0
0
0
6
0.00
0.00
0.0
1.0
—
—
—
0
0

Mortality – FinRegistry

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

Relationships between endpoints

Index endpoint: Q17_OTHER_CONGEN_MALFO_MALE_GENITAL_ORGANS – Other congenital malformations of male genital organs

GWS hits: -

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