Congenital malformations of lung

Q17_CONGEN_MALFO_LUNG

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 Q33
  • Cause of death: ICD-10 Q33

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

92

4. Check minimum number of events

None

92

5. Include endpoints

None

92

6. Filter based on genotype QC (FinnGen only)

86

Control definitions (FinnGen only)

Control exclude
Q17_CONGEN_MALFO_RESPI_SYSTEM

Extra metadata

Level in the ICD hierarchy
3
First used in FinnGen datafreeze
DF4
Parent code in ICD-10
Q3[0-4]
Name in latin
Malformationes congenitae pulmonis/pulmonum

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 981 473 506
Only index persons 577 282 295
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 4.16 6.77 1.64
Only index persons 29.63 36.04 23.51

-FinnGen-

Key figures

All Female Male
Number of individuals 86 44 42
Unadjusted period prevalence (%) 0.02 0.02 0.02
Median age at first event (years) 42.92 45.70 40.01

-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
92
Matched controls
920
Code
Vocabulary
Description
Odds Ratio
-log10(p)
N matched cases
N matched controls
R91
ICD-10 Finland
Abnormal findings on diagnostic imaging of lung
14.8
30.1
32
32
Q33.2
ICD-10 Finland
Sequestration of lung
+∞
29.8
27
*
Q33.08
ICD-10 Finland
Congenital cystic lung
+∞
21.7
20
*
Q33.6
ICD-10 Finland
Hypoplasia and dysplasia of lung
+∞
12.8
12
*
J18.9
ICD-10 Finland
Pneumonia, unspecified
4.7
10.7
33
98
UGC12
NOMESCO Finland
Flexible bronchoscopy
10.6
9.9
19
22
Q33.00
ICD-10 Finland
Solitary congenital cyst in the lungs
+∞
9.5
9
*
GD1AA
NOMESCO Finland
Thorax X-ray examination
3.9
9.5
53
238
GD1UA
NOMESCO Finland
Thorax X-ray examination outside radiological department
4.6
9.1
26
72
Q33.9
ICD-10 Finland
Congenital malformation of lung, unspecified
+∞
8.5
8
*
GDC00
NOMESCO Finland
Lobectomy of lung
+∞
8.5
8
*
GD1BD
NOMESCO Finland
Thorax extensive CT-examination
8.6
7.6
16
22
Q33.80
ICD-10 Finland
Congenital [cystic] adenomatoid malformation of lung
+∞
7.4
7
*
J45.1
ICD-10 Finland
Nonallergic asthma
4.5
6.3
17
44
Q34.1
ICD-10 Finland
Congenital cyst of mediastinum
+∞
6.3
6
*
GD1AD
NOMESCO Finland
Thorax CT examination
9.7
6.3
12
14
R03AC02
ATC
salbutamol; inhalant
3.2
6.2
64
386
XG412
NOMESCO Finland
Flow-volume spirometry with bronchospasmolysis
6.0
6.0
16
31

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
34
153
2.94
5.48
3.4
4.5
—
—
—
0
0
8
7
12.35
4.88
3.1
1.6
—
—
—
0
0
65
444
2.58
4.17
2.7
2.9
—
—
—
0
0
87
740
4.23
3.48
12.6
14.2
4.01
3.98
mmol/l
0.37
87
727
32
173
2.30
3.33
2.7
3.7
—
—
—
0
0
38
226
2.16
3.11
7.5
9.1
1.00
1.15
inr
2.17
14
61
15
61
2.74
2.79
1.7
1.2
111.78
133.24
u/ml
0.17
15
55
42
272
2.00
2.66
2.7
3.2
6.00
5.97
ph
—
6
35
49
336
1.98
2.63
3.5
3.4
0.00
0.00
estimate
—
7
54
48
332
1.93
2.46
3.5
3.4
0.00
0.00
estimate
—
5
58
11
39
3.06
2.44
1.5
4.3
—
—
—
0
0
48
333
1.92
2.43
5.8
4.8
0.00
0.00
estimate
—
7
58
22
115
2.20
2.42
1.5
3.7
4.58
1.84
e6/l
0.61
13
62
5
9
5.80
2.24
2.4
1.1
—
—
—
0
0
44
311
1.80
2.00
7.2
11.5
1.22
1.22
mmol/l
0.07
44
297
59
456
1.82
1.97
3.3
3.8
—
—
—
0
0
19
102
2.09
1.94
8.4
14.5
25.85
24.86
mmol/l
0.65
19
102
5
12
4.34
1.85
3.6
2.7
—
—
—
0
0
23
136
1.92
1.81
2.8
2.2
—
—
—
0
0
15
76
2.16
1.76
1.5
1.4
—
—
—
0
0
5
13
4.00
1.74
1.2
1.0
—
—
—
0
0
32
214
1.76
1.70
2.1
2.4
—
—
—
0
0
24
147
1.86
1.69
2.4
2.6
2.29
1.14
mg/l
0.28
16
118
16
85
2.07
1.67
1.8
1.7
—
—
—
0
0
30
199
1.75
1.63
3.2
3.4
0.18
0.42
e6/l
0.79
24
146
17
94
1.99
1.60
1.2
2.1
—
—
—
0
0
8
33
2.56
1.58
5.6
20.4
—
—
—
0
0
92
876
+∞
1.56
18.4
17.3
253.76
260.37
e9/l
0.49
87
852
92
876
+∞
1.56
18.7
17.9
39.53
40.73
%
0.67
83
836
26
168
1.76
1.54
2.4
3.5
0.00
0.00
estimate
—
6
56
50
389
1.63
1.46
6.8
7.6
—
—
—
0
0
5
16
3.24
1.45
1.0
1.1
—
—
—
0
0
52
411
1.61
1.41
3.7
3.8
—
94.67
—
0
6
15
84
1.94
1.37
2.1
7.7
23.27
23.45
mmol/l
0.09
15
84
13
69
2.03
1.36
5.1
13.1
0.41
1.09
mmol/l
0.35
13
52
29
201
1.65
1.32
1.6
2.7
11.54
31.33
ng/l
2.15
15
112
31
219
1.63
1.31
3.4
3.6
15.45
23.40
e6/l
0.39
24
166
6
25
2.49
1.26
4.0
2.2
—
—
—
0
0
5
19
2.72
1.23
1.2
2.6
1.35
2.10
e9/l
—
5
12
85
789
2.01
1.09
11.6
10.0
—
—
—
0
0
7
34
2.14
1.05
2.3
6.3
—
—
—
0
0
29
214
1.52
1.00
1.4
1.5
—
—
—
0
0
0
29
0.00
0.99
0.0
1.3
—
—
—
0
0
7
36
2.02
0.99
7.4
21.5
0.71
0.71
%
—
7
36
7
36
2.02
0.99
7.4
21.7
95.73
93.26
%
—
7
36
77
696
1.65
0.96
3.8
4.1
2.87
2.87
mmol/l
0.01
72
662
5
102
0.46
0.96
1.0
1.3
—
—
—
0
0
7
37
1.96
0.96
7.4
21.0
1.00
1.74
%
—
7
37
30
229
1.46
0.87
6.5
6.9
—
—
—
0
0
20
142
1.52
0.81
2.5
3.0
—
—
—
0
0
7
117
0.57
0.74
3.9
1.5
—
—
—
0
0
27
209
1.41
0.72
3.2
3.2
—
—
—
0
0
5
94
0.51
0.71
1.2
1.2
—
—
—
0
0
16
112
1.52
0.69
2.1
7.8
—
—
—
0
0
14
95
1.56
0.69
5.4
12.4
—
—
—
0
0
11
70
1.65
0.69
12.1
13.3
—
—
—
0
0
17
121
1.50
0.68
3.0
4.0
73.64
407.29
ng/l
1.36
11
87
15
207
0.67
0.67
3.3
3.6
7.46
8.23
mmol/l
0.33
15
186
7
44
1.64
0.67
1.3
2.9
4.83
5.11
pmol/l
—
7
39
8
49
1.69
0.64
1.3
1.5
—
—
—
0
0
62
556
1.35
0.63
4.1
3.7
14.42
14.65
pmol/l
0.39
57
523
18
133
1.44
0.61
3.8
2.7
553.39
545.42
mosm/kgh2o
0.05
18
109
0
21
0.00
0.61
0.0
1.2
—
—
—
0
0
30
243
1.35
0.60
1.7
1.9
—
—
—
0
0
9
59
1.58
0.57
1.7
1.7
—
—
—
0
0
22
171
1.38
0.57
3.7
2.6
—
—
—
0
0
12
166
0.68
0.54
6.7
3.9
16.28
115.23
mg/mmol
—
6
105
31
258
1.30
0.51
4.0
4.4
21.02
46.71
e6/l
0.69
25
175
7
49
1.46
0.47
5.6
3.2
—
—
—
0
0
11
78
1.47
0.45
1.4
1.2
—
—
—
0
0
11
149
0.70
0.44
1.6
2.3
2.37
2.90
mg/l
0.54
11
131
5
34
1.50
0.41
2.8
9.0
0.86
1.84
%
—
5
34
17
134
1.33
0.40
1.4
1.9
—
—
—
0
0
0
18
0.00
0.40
0.0
1.4
—
—
—
0
0
0
19
0.00
0.39
0.0
1.2
—
—
—
0
0
0
19
0.00
0.39
0.0
1.3
—
—
—
0
0
6
45
1.36
0.34
1.7
1.6
—
—
—
0
0
7
96
0.71
0.33
2.9
2.1
2.84
2.53
g/l
—
7
91
10
77
1.34
0.27
4.7
10.2
107.80
104.36
mmol/l
—
10
77
11
88
1.28
0.24
1.3
3.5
3.21
5.42
umol/l
1.93
11
75
0
11
0.00
0.21
0.0
1.3
—
—
—
0
0
0
10
0.00
0.21
0.0
1.0
—
101.80
—
0
10
0
12
0.00
0.21
0.0
3.0
—
17.33
—
0
12
19
166
1.18
0.20
3.7
3.9
1.50
1.70
ug/l
0.25
19
147
6
51
1.19
0.20
1.0
1.1
—
—
—
0
0
30
274
1.14
0.18
3.3
2.3
—
—
—
0
0
8
70
1.16
0.17
1.6
1.5
—
—
—
0
0
6
77
0.76
0.16
4.5
1.7
—
—
—
0
0
17
150
1.16
0.16
3.9
2.5
5.64
4.67
e6/l
0.18
17
129
9
82
1.11
0.15
1.0
1.2
—
—
—
0
0
7
89
0.77
0.15
2.9
2.2
22.14
24.50
%
—
7
80
20
180
1.14
0.14
3.7
4.1
7.38
7.41
ph
—
6
27
20
216
0.91
0.09
2.0
1.8
82.41
102.64
pmol/l
—
10
102
17
156
1.11
0.08
3.1
2.0
—
—
—
0
0
7
68
1.03
0.08
1.0
1.4
—
—
—
0
0
19
203
0.92
0.07
1.2
1.5
2.26
2.12
g/l
0.15
13
111
16
162
0.99
0.00
1.6
2.1
155.69
215.85
u/l
0.39
16
156
13
134
0.97
0.00
10.8
7.8
1.39
1.25
mmol/l
0.55
13
128
10
104
0.96
0.00
2.5
2.2
13.33
14.24
umol/l
—
10
99
5
51
0.98
0.00
1.2
1.5
—
—
—
0
0
0
5
0.00
-0.00
0.0
22.2
—
809.20
—
0
5
0
7
0.00
-0.00
0.0
1.9
—
—
—
0
0
0
5
0.00
-0.00
0.0
3.6
—
—
—
0
0
0
8
0.00
-0.00
0.0
1.1
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.8
—
—
—
0
0
0
7
0.00
-0.00
0.0
36.0
—
148.29
—
0
7
6
65
0.92
-0.00
2.0
1.5
—
—
—
0
0
0
9
0.00
-0.00
0.0
1.6
—
2.99
—
0
9
0
5
0.00
-0.00
0.0
1.2
—
—
—
0
0
0
8
0.00
-0.00
0.0
1.6
—
—
—
0
0
0
7
0.00
-0.00
0.0
1.1
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
5
0.00
-0.00
0.0
2.0
—
2.50
—
0
5
0
7
0.00
-0.00
0.0
1.3
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
7
0.00
-0.00
0.0
3.1
—
139.00
—
0
7
0
8
0.00
-0.00
0.0
1.5
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
5
0.00
-0.00
0.0
5.0
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.8
—
—
—
0
0
0
8
0.00
-0.00
0.0
1.1
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.3
—
—
—
0
0
0
5
0.00
-0.00
0.0
9.4
—
0.57
—
0
5
0
7
0.00
-0.00
0.0
1.9
—
5.64
—
0
7
0
8
0.00
-0.00
0.0
1.8
—
1.34
—
0
8
0
9
0.00
-0.00
0.0
1.1
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.2
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.2
—
—
—
0
0
7
77
0.90
-0.00
1.4
1.2
—
—
—
0
0
0
5
0.00
-0.00
0.0
3.6
—
8.56
—
0
5
0
6
0.00
-0.00
0.0
1.5
—
1.73
—
0
6
0
5
0.00
-0.00
0.0
1.8
—
1.52
—
0
5
0
5
0.00
-0.00
0.0
2.0
—
1.21
—
0
5
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
6
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
7
0.00
-0.00
0.0
1.9
—
—
—
0
0
0
6
0.00
-0.00
0.0
3.0
—
—
—
0
0
0
7
0.00
-0.00
0.0
3.0
—
22.64
—
0
7
0
9
0.00
-0.00
0.0
1.9
—
0.81
—
0
9
13
130
1.00
-0.00
2.9
1.6
—
—
—
0
0
0
5
0.00
-0.00
0.0
24.0
—
1451.60
—
0
5
0
5
0.00
-0.00
0.0
1.4
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.3
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.7
—
2.36
—
0
6

Mortality – FinRegistry

Association

Association between endpoint Q17_CONGEN_MALFO_LUNG and mortality.

Females

No data

Males

No data

Mortality risk

Mortality risk for people of age

years, who have Q17_CONGEN_MALFO_LUNG.

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_LUNG – Congenital malformations of lung

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
loading spinner Loading data