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Ebstein's anomaly

Endpoint Browser PheWeb

Q17_EBSTEINS_ANOMALY

Endpoint definition

↥

Report an error or suggest an improvement for this endpoint codes

Endpoint definition steps

FinnGen

Phenotype data

557745

1. Apply sex-specific rule

None

557745

2. Check conditions

None

557745

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

Registry filters:

  • Hospital discharge: ICD-10 — Q22.5
  • Hospital discharge: ICD-9 — 7462A|7462B
  • Cause of death: ICD-10 — Q22.5
  • Cause of death: ICD-9 — 7462A|7462B

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

60

4. Check minimum number of events

None

60

5. Include endpoints

None

60

6. Filter based on genotype QC (FinnGen only)

53

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 53 34 19
Unadjusted period prevalence (%) 0.01 0.01 0.01
Median age at first event (years) 24.45 33.59 8.10

-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
56
Matched controls
560
Code
Vocabulary
Description
Odds Ratio
-log10(p)
N matched cases
N matched controls
Q22.5
ICD-10 Finland
Ebstein anomaly
+∞
66.6
50
*
FM1AE
NOMESCO Finland
Standard cardiac ultrasound examination
23.4
33.4
37
43
FM1BE
NOMESCO Finland
Cardiac ultrasound examination through oesophagus
66.8
27.6
31
10
XF400
NOMESCO Finland
ECG with 12 standard connections
13.9
22.6
31
46
FXA00
NOMESCO Finland
Total cardiopulmonary bypass in normothermia or moderate hypothermia at concurrent surgical procedure
75.7
21.2
23
5
201
Kela drug reimbursment
Chronic cardiac insufficiency
58.5
19.4
22
6
C03CA01
ATC
furosemide; systemic
11.1
19.1
33
64
I48
ICD-10 Finland
Atrial fibrillation and flutter
12.8
19.0
24
31
I36.1
ICD-10 Finland
Nonrheumatic tricuspid (valve) insufficiency
140.0
18.9
19
*
TFC00
NOMESCO Finland
Catheterisation of right atrium or ventricle
+∞
17.6
16
*
B01AA03
ATC
warfarin; systemic
18.9
16.7
27
26
XF404
NOMESCO Finland
Ambulatory ECG
18.6
15.6
25
23
FM1EE
NOMESCO Finland
Extensive structural and functional ultrasound examination of heart
8.5
14.9
31
71
XF402
NOMESCO Finland
ECG with work load test
15.0
12.8
22
23
ZXE20
NOMESCO Finland
More than three and less than five hours
8.2
12.5
22
41
XFP20
NOMESCO Finland
Check up of cardiac pacemaker
39.9
12.4
15
5
XF620
NOMESCO Finland
Examination of circulation with color method
149.5
11.9
12
*
WX872
NOMESCO Finland
Intensive care
45.6
11.9
14
*
Z45.0
ICD-10 Finland
Adjustment and management of cardiac devices
+∞
11.9
11
*
TPH07
NOMESCO Finland
Cathetrisation of artery
8.1
11.7
20
36
GD1UA
NOMESCO Finland
Thorax X-ray examination outside radiological department
7.0
11.5
25
58
GD1AA
NOMESCO Finland
Thorax X-ray examination
8.1
11.3
44
175
TPH15
NOMESCO Finland
Insertion of central venous catheter through external or internal jugular vein
13.5
11.2
20
22
Z95.0
ICD-10 Finland
Presence of electronic cardiac devices
41.3
10.9
13
*
C01AA05
ATC
digoxin; systemic
41.3
10.9
13
*
TFP20
NOMESCO Finland
Cardiodefibrillation
19.9
10.2
15
10
C03DA01
ATC
spironolactone; oral
12.7
10.0
18
20
R4110
NOMESCO Finland
Physiotherapy
5.8
9.9
32
105
FGB10
NOMESCO Finland
Repair of Ebstein's anomaly with mobilisation and ventricular plication
+∞
9.6
9
*
ZXD10
NOMESCO Finland
Scheduled procedure
5.7
9.4
37
142
FM1DG
NOMESCO Finland
Very extensive MRI examination of heart with high intesity magnet
24.9
8.9
12
6
B01AB05
ATC
enoxaparin; parenteral
5.4
8.9
26
77
Q21.10
ICD-10 Finland
Persistent ostium secundum
33.5
8.9
11
*
Q21.09
ICD-10 Finland
Ventricular septal defect NOS
105.3
8.7
9
*
WX408
NOMESCO Finland
General anesthesy, balanced
4.9
7.8
27
90
207
Kela drug reimbursment
Chronic arrhythmias
8.0
7.8
18
31
C01BD01
ATC
amiodarone; systemic
91.7
7.6
8
*
FM1DE
NOMESCO Finland
Doppler ultrasound examination of heart
9.3
7.3
15
21
C07AB07
ATC
bisoprolol; oral
4.5
7.2
34
143
ZXE30
NOMESCO Finland
More than five and less than seven hours
11.4
6.7
12
13
TFB00
NOMESCO Finland
Cathetrisation of pulmonal artery
78.4
6.6
7
*
I49.5
ICD-10 Finland
Sick sinus syndrome
30.5
6.4
8
*
7462B
ICD-9 Finland
Other congenital anomalies of heart, Ebstein's anomaly[VITIUM VALVULAE TRICUSPIDALIS CONGENITA CUM INSUFF]
+∞
6.4
6
*
FGC10
NOMESCO Finland
Annuloplasty of tricuspid valve using prosthetic ring
+∞
6.4
6
*
7462A
ICD-9 Finland
Other congenital anomalies of heart, Ebstein's anomaly[ANOMALIA EBSTEIN]
+∞
6.4
6
*
WX892
NOMESCO Finland
Monitored bed care
8.1
6.4
14
22
Z2221
NOMESCO Finland
Medical doctor
3.9
6.0
29
120

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
30
20
30.71
21.84
5.6
3.9
153.23
190.95
ng/l
0.23
30
20
26
33
13.84
21.05
17.2
22.0
7.22
6.74
mmol/l
0.14
26
33
45
175
9.00
12.11
37.5
8.9
1.61
1.13
inr
4.14
40
141
19
37
7.26
10.20
27.6
5.5
7.46
7.43
ph
—
6
22
21
49
6.26
9.37
15.3
8.8
106.76
104.18
mmol/l
1.32
21
49
14
15
12.00
7.84
33.6
8.5
24.44
25.74
mmol/l
0.76
14
15
48
277
6.11
7.10
8.6
3.8
—
—
—
0
0
14
19
9.42
6.93
33.8
7.8
0.76
0.68
%
0.26
14
19
14
20
8.94
6.73
33.8
7.8
1.03
1.51
%
1.03
14
20
14
21
8.50
6.54
33.8
7.8
96.25
95.40
%
0.50
14
21
9
7
14.98
5.80
7.6
14.9
68.33
69.46
%
—
9
7
21
76
3.82
5.16
4.3
3.2
11.02
14.77
umol/l
2.12
21
68
19
65
3.91
5.04
4.2
3.5
17.26
24.15
%
2.15
19
60
7
5
15.69
4.70
7.1
18.8
11.50
12.16
%
—
7
5
19
69
3.65
4.58
4.4
3.4
2.59
2.53
g/l
0.16
19
64
14
41
4.22
4.53
40.3
8.5
1.17
1.16
mmol/l
0.03
14
41
21
83
3.45
4.45
22.0
10.9
1.18
1.23
mmol/l
0.29
21
76
30
150
3.15
4.29
4.8
2.6
—
—
—
0
0
29
143
3.13
4.23
3.2
3.8
76.97
21.49
ng/l
0.52
17
89
24
109
3.10
3.99
11.6
2.8
1.51
0.71
mg/l
1.02
24
87
6
5
13.19
3.85
1.2
1.8
—
—
—
0
0
22
98
3.05
3.75
7.0
4.7
—
—
—
0
0
16
60
3.33
3.60
2.6
2.2
—
—
—
0
0
5
5
10.79
3.03
2.4
2.0
—
—
—
0
0
5
5
10.79
3.03
47.8
52.2
7.72
6.28
ug/l
—
5
5
9
24
4.26
2.81
7.6
9.8
1.10
1.71
%
—
9
24
34
216
2.46
2.68
6.0
3.0
—
—
estimate
—
0
0
32
205
2.31
2.38
15.9
9.4
—
—
—
0
0
8
23
3.88
2.37
8.4
10.1
0.80
0.73
%
—
8
23
15
70
2.56
2.23
31.0
12.0
24.14
25.25
mmol/l
0.79
15
70
13
57
2.67
2.17
2.4
1.4
—
—
—
0
0
5
10
5.36
2.11
1.2
1.2
—
—
—
0
0
0
53
0.00
2.00
0.0
1.3
—
—
—
0
0
5
11
4.87
1.98
1.6
2.3
—
—
—
0
0
5
11
4.87
1.98
1.6
2.3
—
—
—
0
0
5
11
4.87
1.98
1.6
2.3
—
—
—
0
0
5
11
4.87
1.98
1.6
2.3
—
—
—
0
0
6
20
3.23
1.63
8.5
2.5
—
—
—
0
0
15
81
2.16
1.59
10.4
7.9
7.36
7.37
ph
—
9
61
10
45
2.49
1.57
14.8
5.1
48.72
63.35
e9/l
—
5
33
27
183
1.92
1.55
7.1
9.4
—
—
—
0
0
14
75
2.16
1.51
43.7
8.1
—
—
—
0
0
41
334
1.85
1.18
5.4
4.8
—
—
—
0
0
7
34
2.21
1.07
4.1
1.6
—
—
—
0
0
12
69
1.94
1.06
1.6
1.7
—
—
—
0
0
27
200
1.68
1.05
12.2
6.5
34.77
36.90
g/l
0.97
27
187
0
31
0.00
1.00
0.0
3.1
—
7.40
—
0
23
22
157
1.66
0.97
8.0
2.4
2.37
2.37
mmol/l
0.02
22
148
6
29
2.19
0.92
1.0
1.0
—
—
—
0
0
16
107
1.69
0.89
1.7
1.8
—
—
—
0
0
11
169
0.57
0.87
2.6
3.0
—
—
—
0
0
9
52
1.87
0.81
13.4
6.6
—
—
—
0
0
5
23
2.28
0.78
1.8
2.0
—
—
—
0
0
22
165
1.55
0.77
2.0
1.5
—
—
—
0
0
7
39
1.91
0.76
2.1
1.7
—
—
—
0
0
5
25
2.09
0.75
4.0
1.6
—
—
—
0
0
5
26
2.01
0.72
3.8
1.2
—
—
—
0
0
5
28
1.86
0.68
1.0
1.2
—
—
—
0
0
49
450
1.71
0.67
47.7
18.7
333.41
333.46
g/l
0.01
49
450
16
115
1.55
0.66
5.5
3.7
—
—
—
0
0
28
227
1.47
0.66
31.4
9.2
1.18
1.22
mmol/l
2.29
28
216
8
49
1.74
0.66
1.4
1.3
—
—
—
0
0
14
101
1.51
0.56
2.1
1.6
13.36
23.23
nmol/l
3.78
14
85
6
38
1.65
0.56
1.7
1.6
—
—
—
0
0
20
157
1.43
0.54
4.3
4.0
—
—
estimate
—
0
0
7
46
1.59
0.51
1.0
1.7
—
—
—
0
0
40
357
1.42
0.50
14.6
7.6
96.90
92.70
u/l
0.18
40
333
25
207
1.38
0.49
5.7
5.3
17.47
41.73
e6/l
1.02
19
143
37
327
1.39
0.48
5.0
5.0
—
658.33
—
0
6
5
31
1.67
0.44
4.0
1.3
—
—
—
0
0
8
60
1.39
0.42
2.0
3.9
3.45
4.84
e9/l
—
8
55
5
33
1.56
0.42
4.0
1.3
—
—
—
0
0
5
33
1.56
0.42
4.0
1.3
—
—
—
0
0
5
33
1.56
0.42
4.4
1.3
—
—
—
0
0
0
15
0.00
0.42
0.0
1.1
—
—
—
0
0
0
15
0.00
0.42
0.0
1.2
—
—
—
0
0
5
34
1.52
0.41
4.2
1.2
—
—
—
0
0
0
17
0.00
0.41
0.0
1.2
—
—
—
0
0
32
282
1.31
0.39
19.7
13.6
0.00
0.00
e9/l
0.71
25
227
21
175
1.32
0.38
2.0
1.7
82.97
103.57
pmol/l
1.12
11
83
19
157
1.32
0.36
3.3
2.7
—
—
—
0
0
13
161
0.75
0.33
1.2
2.1
2.47
2.37
g/l
—
8
86
7
54
1.34
0.32
1.4
1.4
—
—
—
0
0
16
131
1.31
0.32
1.9
2.4
—
—
—
0
0
7
56
1.29
0.31
1.1
1.4
—
—
—
0
0
15
123
1.30
0.29
4.5
7.2
—
—
—
0
0
16
134
1.27
0.27
4.2
5.1
—
—
—
0
0
0
10
0.00
0.21
0.0
3.6
—
0.82
—
0
10
0
10
0.00
0.21
0.0
4.2
—
—
—
0
0
0
12
0.00
0.21
0.0
1.2
—
—
—
0
0
0
12
0.00
0.21
0.0
1.4
—
—
—
0
0
6
47
1.31
0.21
5.7
4.5
—
—
—
0
0
0
13
0.00
0.21
0.0
1.3
—
—
—
0
0
0
13
0.00
0.21
0.0
1.0
—
—
—
0
0
12
142
0.80
0.20
6.3
2.7
105.92
58.19
u/l
0.43
12
130
10
81
1.29
0.20
2.4
2.6
2.43
2.45
mmol/l
—
10
73
13
111
1.22
0.18
2.5
5.3
1.01
1.02
kg/l
—
8
69
9
108
0.80
0.14
1.7
2.0
—
—
—
0
0
9
84
1.08
0.07
1.6
2.2
—
—
—
0
0
23
218
1.09
0.06
3.8
4.3
6.27
6.15
ph
0.17
11
114
28
269
1.08
0.05
4.2
4.8
0.00
0.00
estimate
—
8
58
28
269
1.08
0.05
4.1
4.7
0.00
0.00
estimate
—
8
60
14
148
0.93
0.03
3.1
3.7
0.00
0.00
estimate
—
6
53
14
147
0.94
0.02
3.9
5.3
0.00
0.00
estimate
—
7
57
20
199
1.01
0.00
2.9
4.6
0.00
0.02
estimate
—
6
52
17
165
1.04
0.00
1.5
1.9
—
—
—
0
0
28
275
1.04
0.00
4.2
4.8
0.00
0.00
estimate
—
8
57
0
6
0.00
0.00
0.0
2.3
—
3.38
—
0
6
0
6
0.00
0.00
0.0
1.5
—
6.35
—
0
6
0
6
0.00
0.00
0.0
1.0
—
208.17
—
0
6
0
5
0.00
-0.00
0.0
2.6
—
—
—
0
0
0
7
0.00
-0.00
0.0
4.9
—
406.29
—
0
7
0
5
0.00
-0.00
0.0
1.0
—
24.68
—
0
5
0
8
0.00
-0.00
0.0
1.6
—
6.15
—
0
8
0
7
0.00
-0.00
0.0
1.1
—
—
—
0
0
0
9
0.00
-0.00
0.0
1.1
—
—
—
0
0
0
8
0.00
-0.00
0.0
1.5
—
1.30
—
0
8
0
9
0.00
-0.00
0.0
1.2
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.0
—
163.36
—
0
5
0
5
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
8
0.00
-0.00
0.0
1.9
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.2
—
—
—
0
0
0
7
0.00
-0.00
0.0
2.1
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.4
—
117.40
—
0
5
0
5
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
7
0.00
-0.00
0.0
1.1
—
287.86
—
0
7
0
5
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
7
0.00
-0.00
0.0
5.7
—
—
—
0
0
0
5
0.00
-0.00
0.0
2.6
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.0
—
169.60
—
0
5
0
8
0.00
-0.00
0.0
1.0
—
28.47
—
0
8

Mortality – FinRegistry

↥

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

Relationships between endpoints

↥

Index endpoint: Q17_EBSTEINS_ANOMALY – Ebstein's anomaly

GWS hits: -

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