Other congenital malformations of kidney

Q17_OTHER_CONGEN_MALFO_KIDNEY

Endpoint definition

Endpoint definition steps

FinnGen

Phenotype data

520210

1. Apply sex-specific rule

None

520210

2. Check conditions

None

520210

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

Registry filters:

  • Hospital discharge: ICD-10 Q63
  • Cause of death: ICD-10 Q63

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

142

4. Check minimum number of events

None

142

5. Include endpoints

None

142

6. Filter based on genotype QC (FinnGen only)

142

Control definitions (FinnGen only)

Control exclude
Q17_CONGEN_MALFO_URINARY_SYSTEM

Extra metadata

Level in the ICD hierarchy
3
First used in FinnGen datafreeze
DF4
Parent code in ICD-10
Q6[0-4]
Name in latin
Aliae malformationes congenitae renis

Case counts by codes

FinnGen case counts by registry codes:

generic upset plot

Upset plot

Full data table

Summary Statistics

-FinRegistry-

Key figures

All Female Male
Number of individuals
Whole population 1596 808 785
Only index persons 1208 636 572
Unadjusted period prevalence (%)
Whole population 0.02 0.02 0.02
Only index persons 0.02 0.02 0.02
Median age at first event (years)
Whole population 9.78 12.50 6.90
Only index persons 20.45 23.76 16.78

-FinnGen-

Key figures

All Female Male
Number of individuals 142 89 53
Unadjusted period prevalence (%) 0.03 0.03 0.02
Median age at first event (years) 42.84 42.65 43.16

-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

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
124
Matched controls
1240
Code
Vocabulary
Description
Odds Ratio
-log10(p)
N matched cases
N matched controls
Q63.1
ICD-10 Finland
Lobulated, fused and horseshoe kidney
+∞
54.2
48
*
Q63.2
ICD-10 Finland
Ectopic kidney
+∞
37.4
34
*
Q63.9
ICD-10 Finland
Congenital malformation of kidney, unspecified
+∞
22.6
21
*
Q63.88
ICD-10 Finland
Other specified congenital malformations of kidney
+∞
18.2
17
*
KH1AE
NOMESCO Finland
Urinary tract ultrasound examination
11.0
13.6
26
29
123
Kela drug reimbursment
Chronic disorders of vitamin D metabolism
39.1
11.5
14
*
Q61.3
ICD-10 Finland
Polycystic kidney, unspecified
+∞
10.6
10
*
UKC02
NOMESCO Finland
Cystoscopy
5.3
10.5
34
82
N18.8
ICD-10 Finland
Other chronic renal failure
28.7
10.0
13
5
N18.9
ICD-10 Finland
Chronic kidney disease, unspecified
12.9
9.9
17
15
Q61.2
ICD-10 Finland
Polycystic kidney, autosomal dominant
+∞
9.5
9
*
N13.3
ICD-10 Finland
Other and unspecified hydronephrosis
20.5
9.1
13
7
A12AA04
ATC
calcium carbonate; oral
29.9
8.6
11
*
138
Kela drug reimbursment
Severe anaemia associated with chronic renal failure
29.9
8.6
11
*
I15.1
ICD-10 Finland
Hypertension secondary to other renal disorders
96.3
8.5
9
*
N18.0
ICD-10 Finland
End-stage renal disease
48.1
7.8
9
*
PBL10
NOMESCO Finland
Construction of arteriovenous fistula from radial artery
48.1
7.8
9
*
A11CC03
ATC
alfacalcidol; systemic
19.9
7.8
11
6
KA1FN
NOMESCO Finland
Isotope renography
85.0
7.5
8
*
Q63.0
ICD-10 Finland
Accessory kidney
+∞
7.4
7
*
TK800
NOMESCO Finland
Hemodialysis
21.6
7.3
10
5
Z49.1
ICD-10 Finland
Extracorporeal dialysis
32.1
7.3
9
*
N13.0
ICD-10 Finland
Hydronephrosis with ureteropelvic junction obstruction
19.2
6.4
9
5
Q63.81
ICD-10 Finland
Congenital diverticulum in renal cup
+∞
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
41
114
4.65
14.10
19.7
12.6
10.2
7.3
mmol/l
1.70
41
108
26
66
4.59
9.82
9.1
18.1
1.4
1.2
mg/l
0.48
26
61
13
17
8.31
9.43
7.2
5.8
—
—
—
0
0
68
375
2.56
6.96
9.3
3.6
42.2
47.6
e6/l
0.07
59
285
51
254
2.57
6.36
6.7
4.4
—
—
—
0
0
73
442
2.34
5.80
10.8
4.4
56.3
41.4
e6/l
0.22
62
297
60
345
2.28
5.27
8.8
3.4
0.2
0.4
e6/l
0.77
51
253
11
23
5.10
5.10
8.2
4.4
—
—
—
0
0
56
319
2.25
4.98
4.2
2.5
—
—
—
0
0
54
315
2.15
4.44
6.0
3.5
5.8
7.6
mmol/l
3.00
44
265
47
268
2.12
4.04
7.7
3.8
24.3
16.4
mg/mmol
0.36
31
153
22
89
2.74
4.03
2.8
4.1
52.9
72.5
e9/l
1.47
14
67
56
342
2.05
4.01
9.0
3.3
—
—
—
0
0
30
143
2.39
3.94
13.9
10.8
—
—
—
0
0
31
151
2.35
3.88
2.3
2.0
—
—
—
0
0
52
322
1.97
3.50
11.4
4.2
7.4
7.4
ph
3.07
13
54
55
348
1.95
3.48
4.6
3.7
2.3
2.4
mmol/l
0.31
49
311
29
144
2.27
3.46
14.5
14.5
24.1
25.0
mmol/l
0.86
29
144
18
71
2.76
3.45
4.2
6.4
0.0
0.0
%
—
6
19
55
349
1.94
3.44
2.5
2.7
—
—
—
0
0
101
785
1.99
3.39
7.0
4.3
—
—
—
0
0
9
19
4.98
3.29
5.3
18.1
—
—
—
0
0
7
11
6.62
3.22
1.6
1.5
—
—
—
0
0
78
567
1.83
3.12
5.8
3.8
0.0
0.0
estimate
0.00
19
90
13
45
3.08
3.11
1.9
1.8
—
—
—
0
0
79
577
1.83
3.10
5.9
3.8
0.0
0.0
estimate
0.00
20
87
9
22
4.29
2.93
5.8
12.7
78.2
63.2
%
—
9
22
19
84
2.45
2.92
4.1
5.9
0.9
1.0
%
—
7
29
19
84
2.45
2.92
8.1
7.4
116.7
119.9
g/l
0.26
19
79
31
170
2.05
2.88
7.7
2.6
12.4
13.8
umol/l
0.65
31
160
42
257
1.90
2.86
6.6
3.1
78.8
119.2
mg/l
0.42
28
154
77
570
1.76
2.79
8.1
5.3
0.0
0.0
estimate
0.00
19
93
5
6
8.57
2.77
4.6
2.2
—
—
—
0
0
5
6
8.57
2.77
1.6
1.0
8.9
11.0
umol/l
—
5
6
23
115
2.19
2.69
10.2
10.8
24.0
23.8
mmol/l
0.19
23
108
17
75
2.44
2.62
4.5
6.3
0.0
0.2
%
—
6
24
9
25
3.77
2.62
7.0
11.6
—
—
—
0
0
5
7
7.34
2.57
1.0
1.0
—
—
—
0
0
5
7
7.34
2.57
1.0
1.0
—
—
—
0
0
81
619
1.72
2.54
6.8
8.9
0.2
0.2
e9/l
0.05
75
548
9
26
3.62
2.53
8.9
3.9
9.0
9.1
kpa
—
9
26
9
26
3.62
2.53
8.9
3.9
4.9
4.9
kpa
—
9
26
14
58
2.57
2.45
11.6
9.6
94.3
94.0
%
0.08
14
58
45
297
1.75
2.36
5.5
3.5
—
—
—
0
0
24
130
2.02
2.29
13.4
12.4
7.4
7.4
ph
—
6
11
19
95
2.15
2.23
9.5
7.4
95.1
95.5
%
0.06
19
90
77
596
1.64
2.18
6.8
8.4
0.5
0.6
e9/l
0.41
71
514
17
83
2.19
2.11
9.9
3.7
—
—
—
0
0
77
600
1.62
2.09
6.8
8.4
0.0
0.0
e9/l
0.85
71
520
6
15
4.12
2.06
7.7
17.6
11.0
11.7
%
—
6
15
40
266
1.70
2.01
3.5
3.8
—
—
—
0
0
9
33
2.84
1.97
2.0
2.8
—
—
—
0
0
36
234
1.72
1.96
4.4
4.4
351.8
5028.9
umol/l
1.07
31
206
6
16
3.86
1.95
1.0
1.6
—
—
—
0
0
20
108
1.99
1.93
9.1
7.0
5.1
5.3
kpa
0.42
20
101
12
54
2.33
1.79
8.1
9.4
23.9
24.5
mmol/l
0.24
12
49
77
615
1.55
1.79
6.9
8.4
1.8
2.1
e9/l
1.51
70
549
49
356
1.57
1.72
4.5
9.9
—
—
—
0
0
41
286
1.61
1.70
6.7
4.2
0.0
0.0
estimate
0.49
20
87
6
19
3.25
1.68
2.0
2.8
—
—
—
0
0
6
20
3.08
1.59
4.7
3.3
3.8
4.7
e9/l
—
6
20
6
20
3.08
1.59
4.7
3.3
53.2
58.0
%
—
6
20
17
94
1.92
1.55
1.5
1.4
151.8
360.8
u/ml
0.38
17
86
85
714
1.47
1.43
3.3
3.4
—
—
—
0
0
54
417
1.47
1.39
6.7
8.9
—
—
—
0
0
41
300
1.51
1.36
4.5
3.6
—
—
—
0
0
99
867
1.47
1.27
3.9
3.8
14.8
14.5
pmol/l
0.44
92
791
19
117
1.72
1.25
1.5
1.7
—
—
—
0
0
13
71
1.91
1.24
2.2
2.1
—
—
—
0
0
116
1054
1.55
1.18
4.5
4.3
1.7
1.9
mu/l
0.93
106
959
11
191
0.54
1.15
2.4
1.7
—
—
—
0
0
53
422
1.41
1.12
1.9
2.1
—
—
—
0
0
49
385
1.42
1.12
4.4
6.6
1.1
1.2
inr
1.89
16
112
7
33
2.18
1.07
1.4
1.2
—
—
—
0
0
7
34
2.11
1.04
3.0
1.2
—
—
—
0
0
5
22
2.32
1.04
1.8
3.0
12.2
11.0
mg/l
—
5
22
18
116
1.63
1.02
1.3
1.2
—
—
—
0
0
69
583
1.36
1.00
14.2
11.1
0.0
0.0
e9/l
0.50
60
466
10
54
1.91
0.99
8.5
8.0
—
—
—
0
0
34
256
1.43
0.97
2.0
3.4
1.3
0.8
mg/l
0.81
27
204
7
37
1.94
0.95
1.9
1.6
—
—
—
0
0
10
55
1.88
0.94
10.6
6.3
23.9
25.2
mmol/l
—
10
48
15
95
1.65
0.91
2.3
4.7
4.5
5.6
ug/l
—
9
78
43
343
1.36
0.88
3.2
3.4
27.7
30.6
ng/l
0.12
31
212
32
243
1.41
0.87
6.8
5.7
—
—
—
0
0
8
44
1.86
0.87
4.5
2.1
—
—
—
0
0
45
366
1.33
0.81
2.4
1.8
94.9
97.6
pmol/l
0.11
21
185
125
1178
1.50
0.80
24.8
13.3
27.6
22.0
mg/l
0.82
103
884
20
141
1.49
0.80
2.5
1.9
—
—
—
0
0
80
707
1.30
0.79
8.6
12.2
3.6
3.9
e9/l
0.62
73
608
10
62
1.66
0.67
2.4
3.8
4.3
4.7
pmol/l
—
10
54
129
1233
1.50
0.65
19.1
11.2
—
—
—
0
0
8
50
1.63
0.62
9.4
4.1
—
—
—
0
0
8
51
1.60
0.61
1.1
3.9
—
—
—
0
0
44
371
1.27
0.60
1.5
1.4
—
—
—
0
0
8
53
1.54
0.59
1.1
1.7
—
—
—
0
0
0
23
0.00
0.59
0.0
1.3
—
—
—
0
0
8
123
0.63
0.57
1.3
1.2
—
—
—
0
0
121
1151
1.34
0.56
20.2
15.3
38.8
39.7
%
0.63
99
940
9
61
1.51
0.55
3.6
3.4
—
—
—
0
0
23
182
1.31
0.50
2.0
2.6
335.5
104.5
ug/g
0.46
16
148
40
341
1.24
0.49
1.2
1.5
1.0
1.5
u/ml
0.27
13
68
7
46
1.55
0.49
1.1
1.9
—
—
—
0
0
15
111
1.39
0.49
15.9
12.6
—
—
—
0
0
12
85
1.45
0.48
3.3
1.4
—
—
—
0
0
18
139
1.34
0.46
1.8
1.4
—
—
—
0
0
16
122
1.35
0.44
1.7
1.3
—
—
—
0
0
5
32
1.58
0.42
2.4
1.9
—
—
—
0
0
8
58
1.40
0.42
1.1
1.6
—
—
—
0
0
8
58
1.40
0.42
1.1
1.6
—
—
—
0
0
8
58
1.40
0.42
1.1
1.6
—
—
—
0
0
32
271
1.23
0.42
3.2
1.9
—
—
—
0
0
5
33
1.53
0.41
1.8
1.6
—
—
—
0
0
0
15
0.00
0.41
0.0
1.1
—
—
—
0
0
0
16
0.00
0.41
0.0
1.6
—
4.4
—
0
6
0
17
0.00
0.41
0.0
1.8
—
—
—
0
0
0
17
0.00
0.41
0.0
1.1
—
—
—
0
0
5
35
1.44
0.39
2.8
6.2
—
—
—
0
0
111
1059
1.22
0.39
5.3
4.4
2.7
2.8
mmol/l
0.44
106
982
90
850
1.16
0.33
3.7
4.3
11.2
10.1
mm/h
0.31
85
780
17
138
1.26
0.32
1.2
1.2
—
—
—
0
0
37
333
1.15
0.25
1.5
1.6
2.0
2.0
g/l
0.01
23
193
20
171
1.20
0.25
3.8
1.5
—
—
—
0
0
5
38
1.33
0.23
3.2
3.0
—
—
—
0
0
5
41
1.23
0.22
1.4
1.9
—
—
—
0
0
0
11
0.00
0.21
0.0
5.6
—
—
—
0
0
0
10
0.00
0.21
0.0
1.3
—
1.7
—
0
10
0
12
0.00
0.21
0.0
1.2
—
—
—
0
0
0
12
0.00
0.21
0.0
1.2
—
—
—
0
0
0
12
0.00
0.21
0.0
1.1
—
—
—
0
0
22
193
1.16
0.21
2.8
3.7
695.0
365.2
ng/l
0.20
15
132
0
13
0.00
0.21
0.0
1.2
—
—
—
0
0
0
13
0.00
0.21
0.0
14.4
—
1410.5
—
0
13
16
186
0.84
0.21
1.3
1.3
5.8
12.3
u/ml
—
10
69
0
14
0.00
0.20
0.0
1.4
—
—
—
0
0
33
361
0.89
0.20
3.8
2.6
—
—
—
0
0
7
58
1.22
0.18
1.1
1.6
—
—
—
0
0
10
82
1.24
0.17
3.8
3.0
—
—
—
0
0
9
78
1.16
0.16
1.1
1.3
—
—
—
0
0
9
79
1.15
0.15
2.8
2.3
—
—
—
0
0
106
1034
1.10
0.14
4.3
3.8
5.5
5.8
mmol/l
2.85
98
948
12
103
1.18
0.14
1.1
1.5
—
—
—
0
0
5
43
1.17
0.10
1.0
1.2
—
—
—
0
0
10
87
1.16
0.09
1.3
1.6
—
—
—
0
0
5
48
1.04
0.09
3.2
1.3
—
—
—
0
0
6
56
1.07
0.09
1.0
1.1
—
—
—
0
0
5
63
0.79
0.08
2.0
1.2
—
—
—
0
0
8
75
1.07
0.07
1.6
1.4
—
—
—
0
0
8
78
1.03
0.07
1.0
1.3
—
—
—
0
0
13
141
0.91
0.06
1.2
1.1
—
—
—
0
0
24
228
1.06
0.05
3.3
1.6
—
—
—
0
0
15
153
0.98
0.00
2.8
1.7
—
—
—
0
0
0
6
0.00
0.00
0.0
1.0
—
—
—
0
0
0
6
0.00
0.00
0.0
2.0
—
—
—
0
0
0
6
0.00
0.00
0.0
1.0
—
—
—
0
0
0
6
0.00
0.00
0.0
2.0
—
6.8
—
0
6
0
5
0.00
0.00
0.0
1.8
—
—
—
0
0
0
5
0.00
0.00
0.0
1.2
—
—
—
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
8
0.00
0.00
0.0
1.3
—
—
—
0
0
0
9
0.00
0.00
0.0
1.1
—
230.9
—
0
9
0
5
0.00
0.00
0.0
1.0
—
—
—
0
0
0
7
0.00
0.00
0.0
7.4
—
—
—
0
0
0
8
0.00
0.00
0.0
1.1
—
—
—
0
0
0
7
0.00
0.00
0.0
2.1
—
1.2
—
0
7
0
5
0.00
0.00
0.0
1.8
—
41.2
—
0
5
0
5
0.00
0.00
0.0
1.0
—
—
—
0
0
0
7
0.00
0.00
0.0
1.7
—
—
—
0
0
0
5
0.00
0.00
0.0
1.4
—
—
—
0
0
0
5
0.00
0.00
0.0
1.2
—
—
—
0
0
0
9
0.00
0.00
0.0
5.7
—
1.2
—
0
9
0
7
0.00
0.00
0.0
1.0
—
—
—
0
0
0
5
0.00
0.00
0.0
1.6
—
—
—
0
0
8
81
0.99
0.00
3.7
5.1
—
—
—
0
0

Mortality – FinRegistry

Association

Association between endpoint Q17_OTHER_CONGEN_MALFO_KIDNEY and mortality.

Females

No data

Males

Parameter HR [95% CI] p-value
Q17_OTHER_CONGEN_MALFO_KIDNEY 1.732 [1.2, 2.49] 0.003
Birth year 0.99 [0.98, 1.0] 0.035

During the follow-up period (1.1.1998 — 31.12.2019), 57 out of 696 males with Q17_OTHER_CONGEN_MALFO_KIDNEY died.

Mortality risk

Mortality risk for people of age

years, who have Q17_OTHER_CONGEN_MALFO_KIDNEY.

N-year risk Females Males
1 No data 0.409%
5 No data 2.41%
10 No data 5.811%
15 No data 10.542%
20 No data 17.333%

Relationships between endpoints

Index endpoint: Q17_OTHER_CONGEN_MALFO_KIDNEY – Other congenital malformations of kidney

GWS hits: -

Endpoint
Case Overlap
Survival Analysis
Genetic Correlations
Genetic Signals
N (Jaccard index)
HR [CI]
rg [CI]
Hits
Coloc Hits
FinRegistry
FinnGen
FinRegistry
FinnGen
FinnGen
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