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Congenital malformations of great veins

DOID EFO Endpoint Browser PheWeb

Q17_CONGEN_MALFO_GREAT_VEINS

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 — Q26
  • Cause of death: ICD-10 — Q26

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

107

4. Check minimum number of events

None

107

5. Include endpoints

None

107

6. Filter based on genotype QC (FinnGen only)

107

Control definitions (FinnGen only)

Control exclude
Q17_CONGEN_MALFO_CIRCULATO_SYSTEM

Extra metadata

Level in the ICD hierarchy
3
First used in FinnGen datafreeze
DF4
Parent code in ICD-10
Q2
Name in latin
Malformationes congenitae venarum magnarum

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 1172 576 591
Only index persons 748 369 379
Unadjusted period prevalence (%)
Whole population 0.02 0.02 0.02
Only index persons 0.01 0.01 0.01
Median age at first event (years)
Whole population 2.81 3.13 2.22
Only index persons 11.13 12.18 10.10

-FinnGen-

Key figures

All Female Male
Number of individuals 107 57 50
Unadjusted period prevalence (%) 0.02 0.02 0.02
Median age at first event (years) 15.28 17.72 12.51

-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
95
Matched controls
936
Code
Vocabulary
Description
Odds Ratio
-log10(p)
N matched cases
N matched controls
FM1BE
NOMESCO Finland
Cardiac ultrasound examination through oesophagus
195.1
50.5
49
5
FXA00
NOMESCO Finland
Total cardiopulmonary bypass in normothermia or moderate hypothermia at concurrent surgical procedure
380.0
46.1
43
*
Q26.1
ICD-10 Finland
Persistent left superior vena cava
+∞
44.1
39
*
Q26.3
ICD-10 Finland
Partial anomalous pulmonary venous connection
+∞
40.4
36
*
FM1EE
NOMESCO Finland
Extensive structural and functional ultrasound examination of heart
15.5
30.1
59
89
Q21.10
ICD-10 Finland
Persistent ostium secundum
+∞
29.6
27
*
TPH15
NOMESCO Finland
Insertion of central venous catheter through external or internal jugular vein
18.3
25.1
41
37
GD1AA
NOMESCO Finland
Thorax X-ray examination
9.1
21.8
67
194
XF400
NOMESCO Finland
ECG with 12 standard connections
9.8
21.0
51
99
TPH07
NOMESCO Finland
Cathetrisation of artery
13.1
21.0
40
49
FM2CE
NOMESCO Finland
NA
18.3
19.6
31
24
FM1AE
NOMESCO Finland
Standard cardiac ultrasound examination
13.7
19.2
35
38
FN1BC
NOMESCO Finland
Extensive angiography of hear and/or coronary arteries
26.6
18.9
26
13
C03DA01
ATC
spironolactone; oral
21.8
17.1
25
15
Q21.08
ICD-10 Finland
Other specifed ventricular septal defect
+∞
17.1
16
*
Q21.12
ICD-10 Finland
Defective sinus venosus
+∞
17.1
16
*
Q21.09
ICD-10 Finland
Ventricular septal defect NOS
+∞
16.0
15
*
GAE10
NOMESCO Finland
Closure of previous incision of chest wall
187.4
15.9
16
*
WX408
NOMESCO Finland
General anesthesy, balanced
5.7
14.1
56
189
Q21.00
ICD-10 Finland
Multiple ventricular septal defect
+∞
12.7
12
*
FM1DG
NOMESCO Finland
Very extensive MRI examination of heart with high intesity magnet
146.8
12.7
13
*
C03CA01
ATC
furosemide; systemic
8.3
12.4
29
47
XF404
NOMESCO Finland
Ambulatory ECG
10.9
12.4
24
28
FM1DE
NOMESCO Finland
Doppler ultrasound examination of heart
11.6
12.3
23
25
GD1UA
NOMESCO Finland
Thorax X-ray examination outside radiological department
6.5
12.1
35
77
Q25.0
ICD-10 Finland
Patent ductus arteriosus
+∞
11.6
11
*
Q26.8
ICD-10 Finland
Other congenital malformations of great veins
+∞
11.6
11
*
201
Kela drug reimbursment
Chronic cardiac insufficiency
28.9
11.5
15
6
XF402
NOMESCO Finland
ECG with work load test
11.2
11.1
21
23
XF600
NOMESCO Finland
Bloodpressure measurement
7.5
10.9
27
47
TFC99
NOMESCO Finland
Catheterisation of heart with other procedure
66.9
10.8
12
*
Q21.11
ICD-10 Finland
Paten or persistent foramen ovale
+∞
10.6
10
*
B01AA03
ATC
warfarin; systemic
8.2
9.8
22
33
31
HP
Congenital heart failure surgery
+∞
9.5
9
*
Q20.1
ICD-10 Finland
Double outlet right ventricle
+∞
9.5
9
*
WX892
NOMESCO Finland
Monitored bed care
6.4
9.5
26
52
FB1BD
NOMESCO Finland
Extensive CT examination of arteria pulmonalis
17.7
9.3
14
9
I35.1
ICD-10 Finland
Aortic (valve) insufficiency
20.9
9.2
13
7
Z95.0
ICD-10 Finland
Presence of electronic cardiac devices
26.7
9.1
12
5
TPH04
NOMESCO Finland
Cathetrisation of vein
4.7
8.9
34
99
I50.9
ICD-10 Finland
Heart failure, unspecified
12.3
8.6
15
14
UGC02
NOMESCO Finland
Rigid bronchoscopy
97.1
8.5
9
*
XF622
NOMESCO Finland
Measurement of minute volume of heart
97.1
8.5
9
*
TFC00
NOMESCO Finland
Catheterisation of right atrium or ventricle
+∞
8.4
8
*
WX404
NOMESCO Finland
Intravenous generell anesthesy
3.7
8.1
45
182
Q21.19
ICD-10 Finland
Atrial septal defect NOS
+∞
7.3
7
*
FHB50
NOMESCO Finland
Transatrial closure of VSD using patch
+∞
7.3
7
*
Q25.1
ICD-10 Finland
Coarctation of aorta
+∞
7.3
7
*
Q21.21
ICD-10 Finland
Atrioventricular duct
+∞
7.3
7
*
JDB10
NOMESCO Finland
Percutaneous gastrostomy
32.3
7.2
9
*
XFP20
NOMESCO Finland
Check up of cardiac pacemaker
15.1
7.0
11
8
Z45.0
ICD-10 Finland
Adjustment and management of cardiac devices
18.1
6.9
10
6
WX872
NOMESCO Finland
Intensive care
18.1
6.9
10
6
GAA10
NOMESCO Finland
Intercostal insertion of pleural drainage tube
42.6
6.8
8
*
WX402
NOMESCO Finland
General anaesthesia
3.5
6.7
36
138
Z01.8
ICD-10 Finland
Other specified special examinations
4.0
6.6
28
88
ZX120
NOMESCO Finland
Intravenous
4.8
6.3
21
52
FN1BB
NOMESCO Finland
Contrast angiography of heart and/or coronary arteries after bypass surgery
28.4
6.3
8
*
FFC96
NOMESCO Finland
Other closure of isolated atrial septal defect
+∞
6.3
6
*
62
HP
Catheterization and pressure measurement of the right side of the heart
+∞
6.3
6
*
Q25.41
ICD-10 Finland
Persistent right-sided aortic arch
+∞
6.3
6
*
FFG96
NOMESCO Finland
Other correction of total anomalous pulmonary vein drainage
+∞
6.3
6
*
FFC00
NOMESCO Finland
Suture of ostium secundum type ASD
+∞
6.3
6
*
XF620
NOMESCO Finland
Examination of circulation with color method
+∞
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
71
201
8.46
27.20
14.1
5.9
1.0
1.2
inr
—
6
58
50
130
6.30
19.80
16.2
13.7
0.8
0.8
mmol/l
0.48
50
124
63
222
5.42
17.13
4.8
3.9
—
—
—
0
0
42
114
5.38
15.35
13.7
17.1
5.4
5.4
mmol/l
0.04
42
109
52
194
4.24
12.28
14.6
11.9
—
—
—
0
0
19
31
7.19
11.54
21.5
15.7
—
—
—
0
0
21
42
5.94
10.45
18.7
16.0
23.9
24.2
mmol/l
0.16
21
42
27
68
4.94
10.43
16.9
11.9
-0.2
0.6
mmol/l
0.46
22
52
50
209
3.58
9.54
8.3
12.5
1.3
1.2
mmol/l
0.09
44
159
47
191
3.58
9.34
18.3
12.4
—
—
—
0
0
46
192
3.42
8.65
16.9
11.9
24.9
23.8
mmol/l
3.35
46
192
8
0
+∞
8.42
1.9
0.0
—
—
—
0
0
48
211
3.29
8.22
17.8
12.6
5.1
5.0
kpa
0.67
48
203
76
441
3.46
8.08
20.5
14.5
1.2
1.2
mmol/l
1.38
70
410
42
175
3.28
7.80
4.3
4.7
—
—
—
0
0
39
156
3.33
7.73
7.0
5.2
1.7
2.8
mg/l
0.37
34
126
50
233
3.12
7.65
21.4
18.8
25.5
24.4
mmol/l
2.36
50
233
52
249
3.09
7.57
1.4
1.7
—
—
—
0
0
43
190
3.09
7.13
18.5
12.8
9.3
9.4
kpa
0.10
43
184
13
25
5.74
6.62
5.1
32.7
—
—
—
0
0
28
100
3.41
6.54
3.3
2.0
—
—
—
0
0
12
22
5.98
6.39
5.3
35.1
77.3
74.6
%
0.32
12
22
26
90
3.47
6.36
15.7
24.0
1.1
1.1
mg/l
0.54
26
90
17
45
4.27
6.03
4.3
22.6
1.1
1.3
%
0.46
17
45
11
21
5.69
5.60
6.3
5.3
—
—
—
0
0
37
169
2.80
5.59
5.4
3.6
59.2
47.1
ng/l
0.14
22
99
42
206
2.69
5.52
17.5
11.8
1.4
1.3
mmol/l
0.24
42
199
60
367
2.42
4.78
14.5
9.1
23.5
26.8
umol/l
0.24
55
351
21
76
3.17
4.72
2.1
1.5
—
—
—
0
0
28
122
2.73
4.54
2.1
1.8
—
—
—
0
0
61
388
2.31
4.30
4.5
3.0
—
—
—
0
0
12
34
3.82
3.85
2.3
2.5
—
—
—
0
0
12
34
3.82
3.85
2.3
2.5
—
—
—
0
0
12
34
3.82
3.85
2.3
2.5
—
—
—
0
0
12
34
3.82
3.85
2.3
2.5
—
—
—
0
0
99
833
3.41
3.65
33.4
16.7
139.2
139.4
mmol/l
0.53
99
817
99
830
3.47
3.65
33.3
16.6
4.1
4.0
mmol/l
2.26
99
810
100
846
3.66
3.61
22.4
13.3
61.6
60.9
umol/l
0.10
100
846
102
881
4.21
3.56
24.6
10.4
—
—
—
0
0
7
10
7.35
3.40
1.1
1.2
—
—
—
0
0
7
18
4.06
2.28
7.0
42.4
12.4
11.3
%
—
7
18
5
9
5.72
2.22
2.2
2.3
—
—
—
0
0
6
15
4.14
2.05
9.3
4.2
9.1
8.6
kpa
—
6
15
5
11
4.68
1.95
1.0
1.0
—
—
—
0
0
31
197
1.79
1.87
2.6
2.6
—
—
—
0
0
5
12
4.28
1.83
2.0
2.1
—
—
—
0
0
15
74
2.18
1.83
1.3
1.2
—
—
—
0
0
8
170
0.42
1.79
1.5
1.3
—
—
—
0
0
5
13
3.95
1.72
12.8
6.7
—
—
—
0
0
69
556
1.66
1.68
5.6
4.3
—
—
—
0
0
5
14
3.67
1.62
1.0
1.1
—
—
—
0
0
5
15
3.42
1.53
10.0
4.2
4.9
4.8
kpa
—
5
15
21
127
1.80
1.47
6.2
3.4
—
—
—
0
0
98
892
2.09
1.46
36.4
18.0
38.0
38.9
%
0.87
87
781
6
22
2.81
1.44
1.7
1.5
—
—
—
0
0
6
22
2.81
1.44
1.5
1.5
—
—
—
0
0
5
16
3.20
1.44
10.6
6.0
—
—
—
0
0
11
53
2.18
1.42
45.4
19.0
—
1.1
—
0
7
6
23
2.68
1.37
3.0
3.0
—
—
—
0
0
95
859
1.88
1.24
32.9
18.6
13.8
13.4
%
1.94
95
852
5
19
2.69
1.22
1.0
1.3
—
—
—
0
0
0
36
0.00
1.16
0.0
1.6
—
—
—
0
0
5
20
2.55
1.15
1.6
1.7
166.8
174.3
ng/l
—
5
20
7
31
2.33
1.12
3.9
7.6
—
—
—
0
0
5
21
2.43
1.09
9.2
11.5
—
—
—
0
0
9
50
1.86
0.99
1.7
1.8
—
—
—
0
0
6
27
2.28
0.95
2.7
2.0
26.7
34.6
u/ml
—
6
27
10
57
1.82
0.85
3.0
2.2
—
—
—
0
0
6
31
1.98
0.85
1.3
2.4
—
—
—
0
0
25
183
1.47
0.84
2.9
3.5
562.0
587.5
mosm/kgh2o
0.23
20
155
0
25
0.00
0.80
0.0
1.8
—
—
—
0
0
39
314
1.37
0.77
3.7
3.6
—
—
—
0
0
5
23
2.21
0.77
4.8
9.6
—
—
—
0
0
7
43
1.66
0.68
1.3
1.1
—
—
—
0
0
30
239
1.34
0.62
3.6
3.5
—
—
—
0
0
5
30
1.69
0.61
3.6
3.5
—
—
—
0
0
5
30
1.69
0.61
1.0
1.0
155.2
166.2
g/l
—
5
30
0
19
0.00
0.61
0.0
1.5
—
—
—
0
0
0
22
0.00
0.60
0.0
1.4
—
—
—
0
0
26
204
1.35
0.59
1.7
2.0
—
—
—
0
0
52
452
1.28
0.57
11.3
11.0
—
—
—
0
0
9
62
1.48
0.54
4.4
3.3
—
—
—
0
0
9
63
1.46
0.53
1.9
1.4
—
—
—
0
0
9
64
1.43
0.53
1.4
1.3
—
—
—
0
0
22
172
1.34
0.52
1.4
1.8
—
—
—
0
0
35
296
1.26
0.47
4.2
4.1
0.3
0.4
e6/l
0.33
29
219
5
31
1.63
0.43
1.0
3.7
12.2
27.5
%
—
5
31
21
168
1.30
0.43
5.6
6.1
—
—
—
0
0
5
32
1.58
0.42
1.0
7.0
—
—
—
0
0
5
32
1.58
0.42
1.2
1.3
—
—
—
0
0
0
15
0.00
0.41
0.0
1.1
—
—
—
0
0
5
34
1.48
0.40
1.4
3.9
55.0
16.1
%
—
5
34
9
66
1.39
0.39
2.4
1.5
—
—
—
0
0
5
76
0.64
0.37
1.0
1.0
2.7
3.2
kpa
—
5
63
5
78
0.62
0.37
1.0
1.0
22.6
18.9
mmol/l
—
5
78
5
78
0.62
0.37
1.0
1.0
—
—
—
0
0
5
78
0.62
0.37
1.0
1.0
0.5
-2.5
mmol/l
—
5
10
34
295
1.21
0.36
4.3
4.1
—
—
—
0
0
22
185
1.23
0.31
7.4
4.0
7.4
7.4
ph
—
6
31
33
366
0.85
0.28
1.3
1.8
1.1
3.9
u/ml
—
5
58
16
131
1.25
0.28
1.4
1.6
—
—
—
0
0
11
137
0.77
0.27
1.6
1.7
—
—
—
0
0
23
199
1.19
0.24
2.4
1.8
91.0
96.5
pmol/l
0.24
13
107
16
134
1.22
0.23
3.1
3.5
13.4
146.4
mg/l
—
10
101
18
207
0.84
0.23
2.6
2.4
—
—
—
0
0
5
41
1.22
0.22
1.0
1.1
—
—
—
0
0
43
395
1.14
0.22
5.9
5.3
0.0
0.0
estimate
—
8
60
56
589
0.88
0.21
11.1
9.9
2.1
2.5
e9/l
1.45
48
498
0
10
0.00
0.21
0.0
1.0
—
—
—
0
0
0
10
0.00
0.21
0.0
1.7
—
—
—
0
0
0
10
0.00
0.21
0.0
1.4
—
—
—
0
0
0
11
0.00
0.21
0.0
1.5
—
—
—
0
0
0
11
0.00
0.21
0.0
1.3
—
—
—
0
0
0
11
0.00
0.21
0.0
1.4
—
—
—
0
0
0
11
0.00
0.21
0.0
1.0
—
132.5
—
0
11
0
12
0.00
0.21
0.0
1.3
—
—
—
0
0
0
12
0.00
0.21
0.0
6.5
—
—
—
0
0
0
13
0.00
0.21
0.0
1.2
—
3.2
—
0
13
55
578
0.89
0.20
11.3
9.8
0.7
0.6
e9/l
1.07
46
467
0
14
0.00
0.20
0.0
1.1
—
—
—
0
0
0
14
0.00
0.20
0.0
1.0
—
—
—
0
0
53
557
0.89
0.19
14.2
12.0
0.0
0.0
e9/l
0.50
41
411
55
576
0.89
0.18
11.3
9.9
0.0
0.0
e9/l
0.35
46
466
7
60
1.17
0.18
2.6
1.5
—
—
—
0
0
7
60
1.17
0.18
4.0
6.9
0.2
0.5
g/l
—
7
48
39
360
1.12
0.18
5.3
5.3
26.2
47.1
e6/l
0.38
30
251
21
233
0.87
0.17
1.3
2.2
—
—
—
0
0
8
70
1.15
0.16
5.4
1.8
—
—
—
0
0
43
402
1.10
0.15
4.2
3.6
0.0
0.0
estimate
—
8
58
18
200
0.87
0.15
5.2
3.8
0.0
0.0
estimate
—
8
60
34
362
0.90
0.15
1.4
1.8
2.1
1.6
g/l
0.99
22
176
43
403
1.10
0.14
4.1
3.6
0.0
0.0
estimate
—
7
61
8
95
0.82
0.14
2.9
2.0
—
—
—
0
0
54
556
0.93
0.10
6.1
4.5
38.3
38.4
mmol/mol
0.04
47
520
5
45
1.11
0.10
4.8
3.8
—
—
—
0
0
39
370
1.07
0.09
9.8
8.8
—
—
—
0
0
6
69
0.86
0.08
2.0
1.6
—
—
—
0
0
58
591
0.95
0.06
12.1
10.8
0.2
0.2
e9/l
0.16
48
494
64
625
1.04
0.04
11.2
13.6
4.1
3.7
e9/l
0.65
53
514
33
318
1.04
0.03
4.5
4.3
16.0
35.0
e6/l
0.47
28
239
11
102
1.08
0.02
2.0
1.3
—
—
—
0
0
18
186
0.95
0.01
3.4
3.2
—
—
—
0
0
62
609
1.03
0.01
4.6
3.8
4.1
4.5
mmol/l
2.38
56
562
24
240
0.99
0.00
2.2
1.9
—
—
—
0
0
60
591
1.02
0.00
4.3
3.5
5.8
5.7
mmol/l
0.32
55
536
62
612
1.02
0.00
5.2
3.9
2.3
2.7
mmol/l
3.33
56
561
61
605
1.00
0.00
4.6
3.7
1.4
1.4
mmol/l
0.35
56
550
0
7
0.00
0.00
0.0
1.9
—
—
—
0
0
0
7
0.00
0.00
0.0
1.6
—
—
—
0
0
0
7
0.00
0.00
0.0
1.4
—
—
—
0
0
0
9
0.00
0.00
0.0
1.0
—
—
—
0
0
0
8
0.00
0.00
0.0
1.0
—
158.9
—
0
8
0
5
0.00
0.00
0.0
1.6
—
—
—
0
0
6
61
0.98
0.00
2.0
2.0
—
—
—
0
0
0
5
0.00
0.00
0.0
1.2
—
—
—
0
0
0
6
0.00
0.00
0.0
1.0
—
—
—
0
0
0
5
0.00
0.00
0.0
26.8
—
1715.4
—
0
5
0
5
0.00
0.00
0.0
4.0
—
20.0
—
0
5
0
6
0.00
0.00
0.0
2.3
—
3.7
—
0
6
0
5
0.00
0.00
0.0
8.0
—
35.6
—
0
5
0
8
0.00
0.00
0.0
1.5
—
—
—
0
0
0
6
0.00
0.00
0.0
22.8
—
9.9
—
0
6
9
92
0.97
0.00
1.4
1.6
481.1
507.7
pmol/l
—
9
79
6
63
0.94
0.00
1.8
1.8
—
—
—
0
0
0
5
0.00
0.00
0.0
1.0
—
—
—
0
0
0
9
0.00
0.00
0.0
1.2
—
—
—
0
0
0
5
0.00
0.00
0.0
12.0
—
986.8
—
0
5
0
6
0.00
0.00
0.0
5.0
—
14.3
—
0
6

Mortality – FinRegistry

↥

Association

Association between endpoint Q17_CONGEN_MALFO_GREAT_VEINS and mortality.

Females

No data

Males

No data

Mortality risk

Mortality risk for people of age

years, who have Q17_CONGEN_MALFO_GREAT_VEINS.

N-year risk Females Males
1 No data No data
5 No data No data
10 No data No data
15 No data No data
20 No data No data

Relationships between endpoints

↥

Index endpoint: Q17_CONGEN_MALFO_GREAT_VEINS – Congenital malformations of great veins

GWS hits: 1

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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