No definition available.
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 ruleNone |
520210 |
2. Check conditionsNone |
520210 |
3. Check pre-conditions, main-only, mode, registry filtersRegistry filters: 2 out of 7 registries used, show all original rules. |
107 |
4. Check minimum number of eventsNone |
107 |
5. Include endpointsNone |
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
Similar endpoints
↥List of similar endpoints to
Congenital malformations of great veins
based on the number of shared cases.
Similar with more cases:
- Congenital malformations of the circulatory system
- Congenital malformations, deformations and chromosomal abnormalities
- Any operation in hilmo
- Any event in hilmo or specialist outpatient
Similar with less cases:
None
Case counts by codes
↥
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
ZXE20
NOMESCO Finland
More than three and less than five hours
11.5
18.8
38
51
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
*
ZXD10
NOMESCO Finland
Scheduled procedure
4.4
10.8
59
252
ZXE40
NOMESCO Finland
More than seven and less than nine hours
21.6
10.6
15
8
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
ZXE10
NOMESCO Finland
More than one and less than three hours
4.0
9.4
50
202
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
ZXE30
NOMESCO Finland
More than five and less than seven hours
10.5
8.9
17
19
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
*
ZXD05
NOMESCO Finland
Urgent procedure
4.0
8.3
41
149
WX404
NOMESCO Finland
Intravenous generell anesthesy
3.7
8.1
45
182
FHB50
NOMESCO Finland
Transatrial closure of VSD using patch
+∞
7.3
7
*
Q21.19
ICD-10 Finland
Atrial septal defect NOS
+∞
7.3
7
*
Q21.21
ICD-10 Finland
Atrioventricular duct
+∞
7.3
7
*
Q25.1
ICD-10 Finland
Coarctation of aorta
+∞
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
WX872
NOMESCO Finland
Intensive care
18.1
6.9
10
6
Z45.0
ICD-10 Finland
Adjustment and management of cardiac devices
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
Z3231
NOMESCO Finland
Registered nurse
3.1
6.4
51
257
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
*
FFC00
NOMESCO Finland
Suture of ostium secundum type ASD
+∞
6.3
6
*
FFC96
NOMESCO Finland
Other closure of isolated atrial septal defect
+∞
6.3
6
*
XF620
NOMESCO Finland
Examination of circulation with color method
+∞
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
*
Mortality – FinRegistry
↥Association
Association between endpoint Q17_CONGEN_MALFO_GREAT_VEINS and mortality.
Females
No dataMales
No dataMortality 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]
Extremity
rg [CI]
Extremity
Hits
Coloc Hits
FinRegistry
FinnGen
FinRegistry
FinnGen
FinnGen
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