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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

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 — 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.

55

4. Check minimum number of events

None

55

5. Include endpoints

None

55

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
55
Matched controls
550
Code
Vocabulary
Description
Odds Ratio
-log10(p)
N matched cases
N matched controls
Q22.5
ICD-10 Finland
Ebstein anomaly
+∞
65.2
49
*
FM1AE
NOMESCO Finland
Standard cardiac ultrasound examination
22.9
32.4
35
39
FM1BE
NOMESCO Finland
Cardiac ultrasound examination through oesophagus
70.5
27.1
30
9
XF400
NOMESCO Finland
ECG with 12 standard connections
14.9
23.5
31
44
FXA00
NOMESCO Finland
Total cardiopulmonary bypass in normothermia or moderate hypothermia at concurrent surgical procedure
89.1
20.8
22
*
201
Kela drug reimbursment
Chronic cardiac insufficiency
82.7
19.6
21
*
C03CA01
ATC
furosemide; systemic
11.0
18.4
31
58
I36.1
ICD-10 Finland
Nonrheumatic tricuspid (valve) insufficiency
130.3
17.8
18
*
TFC00
NOMESCO Finland
Catheterisation of right atrium or ventricle
+∞
17.6
16
*
B01AA03
ATC
warfarin; systemic
18.6
16.1
26
25
XF404
NOMESCO Finland
Ambulatory ECG
17.5
14.7
24
23
FM1EE
NOMESCO Finland
Extensive structural and functional ultrasound examination of heart
7.9
13.5
29
68
XF402
NOMESCO Finland
ECG with work load test
15.8
13.1
22
22
WX872
NOMESCO Finland
Intensive care
61.2
12.6
14
*
ZXE20
NOMESCO Finland
More than three and less than five hours
8.3
12.6
22
41
GD1UA
NOMESCO Finland
Thorax X-ray examination outside radiological department
7.6
12.1
24
51
I48
ICD-10 Finland
Atrial fibrillation and flutter
12.3
12.0
23
30
XF620
NOMESCO Finland
Examination of circulation with color method
150.2
11.9
12
*
TPH15
NOMESCO Finland
Insertion of central venous catheter through external or internal jugular vein
14.3
11.5
20
21
GD1AA
NOMESCO Finland
Thorax X-ray examination
7.2
10.7
41
159
C03DA01
ATC
spironolactone; oral
14.2
10.5
18
18
C01AA05
ATC
digoxin; systemic
50.0
10.4
12
*
XFP20
NOMESCO Finland
Check up of cardiac pacemaker
33.2
10.4
13
5
TFP20
NOMESCO Finland
Cardiodefibrillation
20.3
9.7
14
9
Z45.0
ICD-10 Finland
Adjustment and management of cardiac devices
+∞
9.6
9
*
FGB10
NOMESCO Finland
Repair of Ebstein's anomaly with mobilisation and ventricular plication
+∞
9.6
9
*
ZXD10
NOMESCO Finland
Scheduled procedure
6.0
9.5
37
141
FM1DG
NOMESCO Finland
Very extensive MRI examination of heart with high intesity magnet
30.0
9.4
12
5
Q21.10
ICD-10 Finland
Persistent ostium secundum
33.6
8.9
11
*
B01AB05
ATC
enoxaparin; parenteral
5.5
8.8
25
72
R4110
NOMESCO Finland
Physiotherapy
5.3
8.7
30
102
Q21.09
ICD-10 Finland
Ventricular septal defect NOS
105.6
8.7
9
*
TPH07
NOMESCO Finland
Cathetrisation of artery
8.7
8.1
18
29
WX408
NOMESCO Finland
General anesthesy, balanced
5.0
8.0
27
89
Z95.0
ICD-10 Finland
Presence of electronic cardiac devices
29.9
7.9
10
*
ZXE30
NOMESCO Finland
More than five and less than seven hours
12.4
6.9
12
12
207
Kela drug reimbursment
Chronic arrhythmias
7.6
6.8
16
28
C07AB07
ATC
bisoprolol; oral
4.3
6.7
31
127
C01BD01
ATC
amiodarone; systemic
78.6
6.6
7
*
FM1DE
NOMESCO Finland
Doppler ultrasound examination of heart
8.5
6.6
14
21
7462A
ICD-9 Finland
Other congenital anomalies of heart, Ebstein's anomaly[ANOMALIA EBSTEIN]
+∞
6.4
6
*
FGC10
NOMESCO Finland
Annuloplasty of tricuspid valve using prosthetic ring
+∞
6.4
6
*
7462B
ICD-9 Finland
Other congenital anomalies of heart, Ebstein's anomaly[VITIUM VALVULAE TRICUSPIDALIS CONGENITA CUM INSUFF]
+∞
6.4
6
*
WX404
NOMESCO Finland
Intravenous generell anesthesy
4.2
6.2
24
85
Z2221
NOMESCO Finland
Medical doctor
4.1
6.2
29
118

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
25
31
13.95
20.56
16.0
19.1
7.06
6.81
mmol/l
0.07
25
31
41
144
8.26
12.44
38.2
9.3
1.74
1.16
inr
—
8
41
47
243
7.40
8.55
6.9
3.5
—
—
—
0
0
17
37
6.17
6.17
7.2
7.5
106.76
104.24
mmol/l
1.01
17
37
9
7
15.01
5.81
33.2
2.9
25.57
24.71
mmol/l
—
9
7
11
14
9.50
5.66
29.8
3.1
—
—
—
0
0
28
130
3.35
4.63
4.5
2.5
—
—
—
0
0
9
14
7.44
4.17
33.6
3.5
1.06
1.66
%
—
9
14
9
14
7.44
4.17
33.6
3.5
0.80
0.75
%
—
9
14
20
81
3.31
4.04
6.4
4.6
—
—
—
0
0
9
15
6.94
4.00
33.6
3.7
88.39
96.00
%
—
9
15
17
65
3.34
3.73
3.8
2.8
12.22
14.86
umol/l
0.91
17
58
14
48
3.57
3.61
2.6
2.1
—
—
—
0
0
25
124
2.86
3.49
2.6
3.8
99.50
21.00
ng/l
0.57
13
74
15
59
3.12
3.10
4.0
3.0
2.67
2.55
g/l
0.27
15
54
13
49
3.16
2.86
2.4
1.4
—
—
—
0
0
5
6
9.00
2.80
2.4
3.5
—
—
—
0
0
5
7
7.70
2.60
2.2
2.1
2.86
0.33
ug/l
—
5
7
8
22
4.07
2.47
2.6
9.5
115.75
132.27
g/l
—
8
22
5
8
6.73
2.42
3.6
2.8
—
—
—
0
0
9
35
2.87
1.90
41.0
7.0
1.21
1.11
mmol/l
—
9
35
6
18
3.61
1.80
8.5
2.7
—
—
—
0
0
0
49
0.00
1.79
0.0
1.3
—
—
—
0
0
6
19
3.41
1.71
7.5
10.7
1.25
1.84
%
—
6
19
24
156
1.96
1.56
7.3
10.1
—
—
—
0
0
21
133
1.94
1.46
7.0
2.4
2.38
2.36
mmol/l
0.23
21
121
5
17
3.13
1.39
8.8
11.8
1.06
0.86
%
—
5
17
34
256
1.86
1.36
14.2
9.5
—
—
—
0
0
5
19
2.79
1.24
3.8
1.2
—
—
—
0
0
8
144
0.48
1.14
2.6
2.7
—
—
—
0
0
8
41
2.11
1.14
1.3
1.3
—
—
—
0
0
7
33
2.28
1.10
2.0
1.7
—
—
—
0
0
11
61
2.00
1.08
1.5
1.7
—
—
—
0
0
9
50
1.95
1.03
11.4
6.7
—
—
—
0
0
0
29
0.00
1.01
0.0
3.0
—
—
—
0
0
32
253
1.63
0.95
16.2
11.8
0.00
0.00
e9/l
0.50
25
208
11
64
1.90
0.94
21.5
11.1
25.28
25.17
mmol/l
0.04
11
64
6
29
2.20
0.92
4.2
1.6
—
—
—
0
0
39
326
1.67
0.91
5.7
4.8
11.05
9.16
mm/h
0.33
39
301
6
30
2.12
0.90
1.5
1.6
—
—
—
0
0
19
136
1.61
0.81
4.1
3.9
—
—
—
0
0
0
26
0.00
0.81
0.0
1.2
—
—
—
0
0
36
300
1.58
0.80
5.6
4.6
—
—
—
0
0
5
24
2.19
0.76
1.0
1.0
—
—
—
0
0
5
24
2.19
0.76
3.8
1.3
—
—
—
0
0
5
25
2.10
0.75
1.0
1.2
—
—
—
0
0
17
121
1.59
0.74
3.8
4.7
7.39
7.41
ph
—
5
24
5
26
2.01
0.72
4.0
1.2
—
—
—
0
0
5
26
2.01
0.72
4.2
1.3
—
—
—
0
0
5
26
2.01
0.72
3.8
1.3
—
—
—
0
0
5
26
2.01
0.72
3.8
1.3
—
—
—
0
0
7
44
1.68
0.68
1.1
1.3
—
—
—
0
0
26
208
1.47
0.66
24.6
8.2
1.20
1.22
mmol/l
1.20
26
196
22
172
1.47
0.62
5.5
5.0
13.12
45.09
e6/l
1.28
17
124
0
22
0.00
0.60
0.0
1.7
—
—
—
0
0
13
92
1.54
0.57
5.5
3.5
—
—
—
0
0
16
119
1.49
0.56
1.8
2.2
—
—
—
0
0
18
139
1.44
0.53
2.9
2.6
—
—
—
0
0
7
45
1.64
0.51
1.4
1.4
—
—
—
0
0
19
149
1.42
0.51
1.9
1.5
—
—
—
0
0
10
68
1.58
0.51
40.3
7.1
—
—
—
0
0
34
296
1.39
0.49
4.9
4.8
—
654.67
—
0
6
13
95
1.48
0.49
1.8
1.7
—
—
—
0
0
0
15
0.00
0.42
0.0
1.1
—
—
—
0
0
0
15
0.00
0.42
0.0
1.1
—
—
—
0
0
0
16
0.00
0.42
0.0
1.2
—
—
—
0
0
0
16
0.00
0.42
0.0
1.8
—
—
—
0
0
43
398
1.37
0.35
4.3
4.3
2.71
2.76
mmol/l
0.12
38
365
36
330
1.26
0.28
12.0
6.6
99.86
94.92
u/l
0.19
36
306
16
133
1.29
0.28
1.9
1.5
82.19
105.72
pmol/l
—
9
58
12
145
0.78
0.25
1.3
2.0
2.46
2.47
g/l
—
7
74
5
42
1.21
0.22
1.0
1.5
—
—
—
0
0
0
11
0.00
0.21
0.0
1.2
—
—
—
0
0
0
10
0.00
0.21
0.0
1.3
—
—
—
0
0
0
10
0.00
0.21
0.0
3.6
—
817.00
—
0
10
0
13
0.00
0.21
0.0
1.3
—
—
—
0
0
0
13
0.00
0.21
0.0
1.8
—
—
—
0
0
0
13
0.00
0.21
0.0
1.0
—
—
—
0
0
0
14
0.00
0.20
0.0
2.0
—
2.68
—
0
5
10
121
0.79
0.20
3.8
3.8
—
—
—
0
0
7
89
0.76
0.16
1.6
1.9
—
—
—
0
0
5
45
1.12
0.10
6.4
4.3
—
—
—
0
0
8
77
1.05
0.08
1.6
2.0
—
—
—
0
0
22
233
0.91
0.07
4.3
4.5
0.00
0.00
estimate
—
7
48
11
121
0.89
0.06
5.4
2.7
109.45
56.86
u/l
0.43
11
109
13
119
1.12
0.06
4.2
4.5
—
—
—
0
0
12
110
1.12
0.05
2.5
1.6
1.14
1.30
mmol/l
0.78
12
92
22
229
0.93
0.03
6.3
6.0
0.00
0.00
estimate
—
7
50
15
149
1.01
0.00
1.7
1.9
—
—
—
0
0
22
225
0.96
0.00
4.3
4.6
0.00
0.00
estimate
—
7
51
13
126
1.04
0.00
3.8
5.1
0.00
0.00
estimate
—
6
50
0
6
0.00
0.00
0.0
1.8
—
—
—
0
0
0
6
0.00
0.00
0.0
1.2
—
—
—
0
0
0
6
0.00
0.00
0.0
1.8
—
—
—
0
0
0
6
0.00
0.00
0.0
1.3
—
—
—
0
0
0
6
0.00
0.00
0.0
1.3
—
—
—
0
0
0
6
0.00
0.00
0.0
1.5
—
1.40
—
0
6
0
7
0.00
-0.00
0.0
1.1
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.0
—
169.60
—
0
5
0
7
0.00
-0.00
0.0
5.4
—
—
—
0
0
0
7
0.00
-0.00
0.0
1.3
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.2
—
298.80
—
0
5
0
7
0.00
-0.00
0.0
1.9
—
11.93
—
0
7
0
7
0.00
-0.00
0.0
1.7
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.0
—
163.36
—
0
5
0
5
0.00
-0.00
0.0
1.6
—
6.54
—
0
5
0
5
0.00
-0.00
0.0
2.2
—
—
—
0
0
0
8
0.00
-0.00
0.0
4.4
—
—
—
0
0
0
8
0.00
-0.00
0.0
1.8
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.0
—
24.68
—
0
5
0
7
0.00
-0.00
0.0
1.7
—
6.95
—
0
7
0
5
0.00
-0.00
0.0
2.2
—
0.97
—
0
5
0
5
0.00
-0.00
0.0
2.4
—
—
—
0
0
0
5
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_EBSTEINS_ANOMALY – Ebstein's anomaly

GWS hits: -

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