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Abnormal pulmonary venous return

Endpoint Browser PheWeb

Q17_APVR

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 — Q21.12, Q26.2, Q26.3, Q26.4
  • Hospital discharge: ICD-9 — 7456X|7474[A-C]
  • Hospital discharge: excluded ICD-10 — Q90|Q91|Q92|Q93|Q96|Q8780|Q8781|Q8782|Q8783|Q8784|Q8786|Q8788|Q85|Q796|Q874|Q875
  • Hospital discharge: excluded ICD-9 — 758|7595|75683
  • Cause of death: ICD-10 — Q21.12, Q26.2, Q26.3, Q26.4
  • Cause of death: ICD-9 — 7456X|7474[A-C]
  • Cause of death: excluded ICD-10 — Q90|Q91|Q92|Q93|Q96|Q8780|Q8781|Q8782|Q8783|Q8784|Q8786|Q8788|Q85|Q796|Q874|Q875
  • Cause of death: excluded ICD-9 — 758|7595|75683

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

93

4. Check minimum number of events

None

93

5. Include endpoints

None

93

6. Filter based on genotype QC (FinnGen only)

90

Control definitions (FinnGen only)

Controls for this endpoint are individuals that are not cases.

Extra metadata

Level in the ICD hierarchy
3
First used in FinnGen datafreeze
DF7

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 865 457 402
Only index persons 602 325 277
Unadjusted period prevalence (%)
Whole population 0.01 0.01 0.01
Only index persons 0.01 0.01 0.01
Median age at first event (years)
Whole population 7.21 8.79 4.99
Only index persons 15.24 17.51 12.58

-FinnGen-

Key figures

All Female Male
Number of individuals 90 47 43
Unadjusted period prevalence (%) 0.02 0.02 0.02
Median age at first event (years) 25.78 35.59 15.06

-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

↥

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
93
Matched controls
930
Code
Vocabulary
Description
Odds Ratio
-log10(p)
N matched cases
N matched controls
FM1BE
NOMESCO Finland
Cardiac ultrasound examination through oesophagus
32.9
60.8
47
28
Q21.12
ICD-10 Finland
Defective sinus venosus
+∞
45.6
40
*
Q26.3
ICD-10 Finland
Partial anomalous pulmonary venous connection
+∞
45.6
40
*
FXA00
NOMESCO Finland
Total cardiopulmonary bypass in normothermia or moderate hypothermia at concurrent surgical procedure
19.8
35.8
32
24
FM1EE
NOMESCO Finland
Extensive structural and functional ultrasound examination of heart
11.1
31.3
59
126
FM1AE
NOMESCO Finland
Standard cardiac ultrasound examination
10.0
26.6
42
71
TPH15
NOMESCO Finland
Insertion of central venous catheter through external or internal jugular vein
8.5
17.9
28
45
Q21.10
ICD-10 Finland
Persistent ostium secundum
19.9
15.4
23
15
TPH07
NOMESCO Finland
Cathetrisation of artery
6.2
14.3
31
69
XF400
NOMESCO Finland
ECG with 12 standard connections
5.4
14.1
40
114
C03DA01
ATC
spironolactone; oral
7.9
14.0
22
35
B01AA03
ATC
warfarin; systemic
6.0
11.8
25
54
ZXE20
NOMESCO Finland
More than three and less than five hours
5.3
10.7
26
63
62
HP
Catheterization and pressure measurement of the right side of the heart
123.3
10.7
11
*
7474A
ICD-9 Finland
Other congenital anomalies of circulatory system, Anomalies of great veins[MALEFORMATIONES VENAE PULMONALIS]
+∞
10.6
10
*
GD1AA
NOMESCO Finland
Thorax X-ray examination
4.2
10.3
58
265
Q21.19
ICD-10 Finland
Atrial septal defect NOS
45.3
10.2
12
*
31
HP
Congenital heart failure surgery
61.6
9.9
11
*
C03CA01
ATC
furosemide; systemic
3.9
8.4
33
115
TFC00
NOMESCO Finland
Catheterisation of right atrium or ventricle
36.9
8.3
10
*
GD1UA
NOMESCO Finland
Thorax X-ray examination outside radiological department
4.1
8.1
28
89
Q26.1
ICD-10 Finland
Persistent left superior vena cava
49.3
7.9
9
*
XF620
NOMESCO Finland
Examination of circulation with color method
49.3
7.9
9
*
Q21.09
ICD-10 Finland
Ventricular septal defect NOS
86.7
7.5
8
*
FM2CE, ,
NOMESCO Finland
7.5
7.4
17
27
FN1AC
NOMESCO Finland
Angiography of heart and/or coronary arteries
4.0
7.2
25
79
Q21.11
ICD-10 Finland
Paten or persistent foramen ovale
15.4
7.1
11
8
FN1BC
NOMESCO Finland
Extensive angiography of hear and/or coronary arteries
8.3
7.0
15
21
R01.1
ICD-10 Finland
Cardiac murmur, unspecified
12.3
7.0
12
11
TPH04
NOMESCO Finland
Cathetrisation of vein
3.5
7.0
30
110
ZXD10
NOMESCO Finland
Scheduled procedure
3.1
6.8
49
245
WX872
NOMESCO Finland
Intensive care
13.6
6.8
11
9
XF402
NOMESCO Finland
ECG with work load test
5.9
6.6
18
36
61
HP
Catheterization and pressure measurement of the left side of the heart
15.8
6.6
10
7
FFC96
NOMESCO Finland
Other closure of isolated atrial septal defect
74.8
6.5
7
*
FFG96
NOMESCO Finland
Other correction of total anomalous pulmonary vein drainage
+∞
6.3
6
*
FFF96
NOMESCO Finland
Other operation for partially anomalous pulmonary veins
+∞
6.3
6
*
Q26.4
ICD-10 Finland
Anomalous pulmonary venous connection, unspecified
+∞
6.3
6
*
FFF20
NOMESCO Finland
Anastomosis to left atrium from partially anomalous pulmonary veins
+∞
6.3
6
*
FM1DG
NOMESCO Finland
Very extensive MRI examination of heart with high intesity magnet
13.8
6.2
10
8
WX892
NOMESCO Finland
Monitored bed care
4.5
6.0
16
41

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
49
213
3.75
9.11
3.0
3.2
—
—
—
0
0
55
270
3.54
8.25
21.1
10.2
1.23
1.20
inr
—
9
70
31
145
2.71
4.53
14.3
7.7
—
—
—
0
0
28
127
2.72
4.32
9.8
8.8
24.21
23.48
mmol/l
0.85
28
127
27
121
2.74
4.26
17.2
9.3
—
—
—
0
0
9
15
6.51
3.92
2.6
22.0
78.71
69.83
%
—
9
15
22
93
2.79
3.84
8.1
9.3
105.95
104.32
mmol/l
2.01
22
93
9
17
5.74
3.61
2.1
20.0
—
—
—
0
0
36
199
2.32
3.59
1.4
1.4
—
—
—
0
0
11
27
4.48
3.53
17.4
8.7
—
—
—
0
0
29
148
2.39
3.44
11.5
10.1
1.30
1.29
mmol/l
0.04
29
142
13
40
3.61
3.30
13.5
8.2
0.98
1.41
%
1.55
13
40
13
40
3.61
3.30
13.5
8.2
0.75
0.64
%
0.67
13
40
27
138
2.35
3.17
16.9
9.6
—
7.41
—
0
5
58
413
2.07
2.87
3.9
3.4
—
—
—
0
0
12
42
3.13
2.67
2.3
10.5
1.06
1.26
%
0.41
12
42
51
359
1.93
2.48
8.2
7.8
16.64
18.96
umol/l
0.35
45
338
11
40
2.98
2.37
2.2
11.0
0.84
0.71
%
0.63
11
40
13
54
2.64
2.32
14.1
18.6
1.10
1.08
mg/l
0.11
13
54
87
768
3.06
2.31
19.6
14.9
68.95
66.82
umol/l
0.30
87
768
26
148
2.05
2.30
24.2
11.8
25.27
24.84
mmol/l
0.42
26
148
88
792
3.06
1.95
19.3
11.7
—
—
—
0
0
18
97
2.06
1.82
2.3
1.7
—
—
—
0
0
7
25
2.94
1.68
1.0
5.6
—
—
—
0
0
15
78
2.10
1.65
1.7
1.4
—
—
—
0
0
87
793
2.50
1.56
19.8
13.4
21.04
22.29
mg/l
0.14
75
572
84
756
2.15
1.49
27.0
15.7
139.35
139.45
mmol/l
0.18
84
738
84
758
2.12
1.49
27.0
15.7
4.04
3.97
mmol/l
1.61
84
738
33
232
1.65
1.43
4.1
3.9
66.80
25.23
ng/l
0.55
20
146
6
23
2.72
1.39
6.5
4.6
41.25
8.04
umol/l
—
6
17
8
37
2.27
1.25
6.5
3.8
—
—
—
0
0
80
717
1.83
1.19
26.8
17.3
14.24
14.32
%
0.06
80
712
5
21
2.46
1.10
7.6
11.5
—
—
—
0
0
7
33
2.21
1.08
1.1
2.2
—
—
—
0
0
21
145
1.58
0.96
3.6
3.4
11.93
71.38
mg/l
0.92
13
98
12
73
1.74
0.86
1.3
1.3
94.58
328.14
u/ml
0.83
12
65
7
124
0.53
0.85
1.1
1.3
—
—
—
0
0
11
66
1.76
0.83
1.7
1.3
—
—
—
0
0
0
25
0.00
0.80
0.0
1.6
—
—
—
0
0
10
59
1.78
0.79
1.2
1.5
—
—
—
0
0
5
23
2.24
0.77
1.0
1.5
—
—
—
0
0
13
87
1.57
0.67
2.8
1.9
—
—
—
0
0
5
30
1.70
0.62
6.0
3.5
—
—
—
0
0
24
187
1.38
0.61
5.3
2.8
—
—
—
0
0
20
156
1.36
0.50
3.7
4.2
—
—
—
0
0
21
166
1.34
0.49
6.1
5.0
—
—
—
0
0
7
48
1.49
0.48
2.6
1.3
—
—
—
0
0
7
49
1.46
0.47
3.4
5.6
—
0.05
—
0
22
8
55
1.50
0.44
1.0
1.5
—
—
—
0
0
10
70
1.48
0.44
10.3
5.7
72.80
58.18
ng/l
—
10
65
55
599
0.80
0.43
5.2
4.2
6.02
5.80
mmol/l
0.59
49
549
0
17
0.00
0.41
0.0
13.8
—
—
—
0
0
0
17
0.00
0.41
0.0
1.1
—
—
—
0
0
0
17
0.00
0.41
0.0
3.2
—
16.54
—
0
10
0
17
0.00
0.41
0.0
1.1
—
—
—
0
0
0
17
0.00
0.41
0.0
1.6
—
—
—
0
0
18
143
1.32
0.41
1.3
1.8
—
—
—
0
0
0
18
0.00
0.40
0.0
1.2
—
—
—
0
0
25
294
0.80
0.39
12.0
4.5
39.39
56.60
e6/l
0.20
20
200
5
36
1.41
0.39
1.0
1.2
—
—
—
0
0
20
241
0.78
0.38
2.1
1.8
—
—
—
0
0
15
187
0.76
0.36
5.3
3.4
—
—
—
0
0
6
42
1.46
0.36
6.3
7.6
0.14
0.36
g/l
—
6
28
30
343
0.81
0.36
4.2
3.7
0.00
0.00
estimate
—
5
51
25
213
1.24
0.34
2.2
1.7
90.67
98.80
pmol/l
0.37
13
109
23
269
0.81
0.33
1.4
1.8
2.08
2.01
g/l
0.09
17
133
13
102
1.32
0.32
1.2
1.2
2.02
6.94
u/ml
—
5
32
30
337
0.84
0.29
6.5
5.2
0.00
0.00
estimate
—
5
51
15
177
0.82
0.23
3.6
4.0
0.00
0.00
estimate
—
5
50
0
11
0.00
0.21
0.0
1.2
—
—
—
0
0
0
11
0.00
0.21
0.0
1.2
—
—
—
0
0
0
10
0.00
0.21
0.0
1.3
—
140.66
—
0
10
0
10
0.00
0.21
0.0
3.1
—
84.45
—
0
10
0
10
0.00
0.21
0.0
1.4
—
—
—
0
0
0
12
0.00
0.21
0.0
1.3
—
2.55
—
0
12
0
13
0.00
0.21
0.0
1.6
—
—
—
0
0
0
13
0.00
0.21
0.0
1.5
—
—
—
0
0
0
14
0.00
0.20
0.0
1.7
—
—
—
0
0
0
14
0.00
0.20
0.0
2.9
—
—
—
0
0
0
14
0.00
0.20
0.0
2.5
—
1.40
—
0
14
6
51
1.19
0.20
3.2
7.4
—
—
—
0
0
26
285
0.88
0.17
1.6
1.7
0.60
2.41
u/ml
—
9
54
12
104
1.18
0.13
1.5
1.4
—
—
—
0
0
22
239
0.90
0.12
10.0
3.3
—
—
—
0
0
53
547
0.93
0.09
4.5
4.4
12.13
10.85
mm/h
0.24
47
501
15
164
0.90
0.08
2.7
3.6
—
—
—
0
0
12
108
1.13
0.07
2.7
1.8
354.67
440.56
pmol/l
1.01
12
89
26
273
0.93
0.06
11.2
8.7
—
—
—
0
0
10
90
1.12
0.06
1.6
1.3
—
—
—
0
0
23
242
0.93
0.05
9.7
3.3
0.01
0.37
e6/l
2.33
18
172
20
211
0.93
0.05
2.9
2.9
—
—
—
0
0
43
419
1.05
0.04
7.9
9.0
—
—
—
0
0
15
156
0.95
0.00
3.3
3.8
—
1.02
—
0
33
13
128
1.02
0.00
1.5
1.6
—
—
—
0
0
17
172
0.99
0.00
7.2
3.0
4.18
4.93
e6/l
0.19
17
145
30
299
1.00
0.00
12.0
6.9
35.53
36.36
g/l
0.35
30
287
13
125
1.05
0.00
2.2
1.5
24.95
21.74
nmol/l
0.35
13
110
50
496
1.02
0.00
6.7
4.1
—
—
—
0
0
0
5
0.00
0.00
0.0
1.8
—
—
—
0
0
0
5
0.00
0.00
0.0
9.6
—
760.60
—
0
5
0
5
0.00
0.00
0.0
13.6
—
1413.40
—
0
5
6
64
0.93
0.00
1.7
2.2
7.55
12.04
nmol/l
—
6
57
0
5
0.00
0.00
0.0
3.6
—
—
—
0
0
0
5
0.00
0.00
0.0
1.2
—
—
—
0
0
0
5
0.00
0.00
0.0
1.0
—
—
—
0
0
0
5
0.00
0.00
0.0
2.2
—
—
—
0
0
0
5
0.00
0.00
0.0
1.0
—
—
—
0
0
0
5
0.00
0.00
0.0
1.2
—
—
—
0
0
0
5
0.00
0.00
0.0
1.4
—
—
—
0
0
0
5
0.00
0.00
0.0
2.0
—
19.78
—
0
5
0
5
0.00
0.00
0.0
2.4
—
39.60
—
0
5
0
5
0.00
0.00
0.0
2.8
—
35500.00
—
0
5
0
5
0.00
0.00
0.0
5.0
—
4.52
—
0
5
0
7
0.00
-0.00
0.0
1.1
—
—
—
0
0
0
9
0.00
-0.00
0.0
1.6
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.2
—
279.67
—
0
6
0
8
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
8
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.8
—
0.14
—
0
6
6
60
1.00
-0.00
1.8
1.5
—
—
—
0
0
17
170
1.00
-0.00
1.9
2.0
—
—
—
0
0
0
7
0.00
-0.00
0.0
2.4
—
1.18
—
0
7
0
9
0.00
-0.00
0.0
1.4
—
4.27
—
0
9
0
6
0.00
-0.00
0.0
1.2
—
1242.50
—
0
6
6
65
0.92
-0.00
3.5
1.7
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.2
—
4.04
—
0
6
0
6
0.00
-0.00
0.0
1.7
—
—
—
0
0
0
6
0.00
-0.00
0.0
2.2
—
—
—
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
21.4
—
0.56
—
0
7
0
7
0.00
-0.00
0.0
1.3
—
—
—
0
0
0
7
0.00
-0.00
0.0
1.9
—
—
—
0
0
0
7
0.00
-0.00
0.0
1.9
—
—
—
0
0
0
9
0.00
-0.00
0.0
9.6
—
—
—
0
0
0
9
0.00
-0.00
0.0
1.6
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.2
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.3
—
—
—
0
0

Mortality – FinRegistry

↥

Association

Association between endpoint Q17_APVR and mortality.

Females

No data

Males

No data

Mortality risk

Mortality risk for people of age

years, who have Q17_APVR.

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_APVR – Abnormal pulmonary venous return

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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