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Congenital malformations of lung

Q17_CONGEN_MALFO_LUNG_WIDE

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:

  • Primary healthcare outpatient: ICD-10 Q33
  • Hospital discharge: ICD-10 Q33
  • Cause of death: ICD-10 Q33

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

106

4. Check minimum number of events

None

106

5. Include endpoints

None

106

6. Filter based on genotype QC (FinnGen only)

98

Control definitions (FinnGen only)

Control exclude
Q17_CONGEN_MALFO_RESPI_SYSTEM

Extra metadata

Level in the ICD hierarchy
3
First used in FinnGen datafreeze
DF13
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-

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

-FinnGen-

Key figures

All Female Male
Number of individuals 98 54 44
Unadjusted period prevalence (%) 0.02 0.02 0.02
Median age at first event (years) 44.38 47.95 40.01

-FinnGen-

Age distribution of first events

-FinnGen-

Year distribution of first events

-FinnGen-

Cumulative Incidence Function

Not a core endpoint, no data to show.

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
106
Matched controls
1060
Code
Vocabulary
Description
Odds Ratio
-log10(p)
N matched cases
N matched controls
R91
ICD-10 Finland
Abnormal findings on diagnostic imaging of lung
15.3
35.4
37
36
Q33.2
ICD-10 Finland
Sequestration of lung
+∞
29.6
27
*
Q33.08
ICD-10 Finland
Congenital cystic lung
+∞
23.8
22
*
Q33.4
ICD-10 Finland
Congenital bronchiectasis
+∞
14.9
14
*
J18.9
ICD-10 Finland
Pneumonia, unspecified
4.9
13.1
39
113
J47
ICD-10 Finland
Bronchiectasis
28.5
12.9
17
7
Q33.6
ICD-10 Finland
Hypoplasia and dysplasia of lung
+∞
12.8
12
*
GD1AA
NOMESCO Finland
Thorax X-ray examination
4.2
12.0
63
275
UGC12
NOMESCO Finland
Flexible bronchoscopy
10.4
11.2
22
26
J15.9
ICD-10 Finland
Bacterial pneumonia, unspecified
6.1
10.3
20
39
Q33.9
ICD-10 Finland
Congenital malformation of lung, unspecified
+∞
9.5
9
*
Q33.00
ICD-10 Finland
Solitary congenital cyst in the lungs
+∞
9.5
9
*
GD1UA
NOMESCO Finland
Thorax X-ray examination outside radiological department
4.5
9.4
28
79
GDC00
NOMESCO Finland
Lobectomy of lung
+∞
8.4
8
*
XG412
NOMESCO Finland
Flow-volume spirometry with bronchospasmolysis
7.2
8.4
20
33
GD1BD
NOMESCO Finland
Thorax extensive CT-examination
7.8
8.0
18
27
Q34.1
ICD-10 Finland
Congenital cyst of mediastinum
+∞
7.4
7
*
Q33.80
ICD-10 Finland
Congenital [cystic] adenomatoid malformation of lung
+∞
7.4
7
*
R03AC02
ATC
salbutamol; inhalant
3.2
7.1
75
456
GD1AD
NOMESCO Finland
Thorax CT examination
9.1
6.6
13
16
UGC02
NOMESCO Finland
Rigid bronchoscopy
28.5
6.3
8
*

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
14
8
19.89
9.70
2.9
1.5
—
—
—
0
0
21
68
3.60
5.71
1.8
1.2
93.67
125.42
u/ml
0.36
21
62
38
178
2.77
5.55
3.5
4.4
—
—
—
0
0
75
515
2.56
4.67
2.9
2.9
—
—
—
0
0
101
852
4.93
4.49
13.2
14.0
139.81
139.69
mmol/l
0.25
101
839
100
860
3.87
3.59
13.4
13.8
4.00
3.97
mmol/l
0.59
100
844
44
275
2.03
3.04
7.1
9.1
1.00
1.17
inr
2.81
16
81
5
5
10.40
3.01
3.2
1.4
—
—
—
0
0
34
195
2.09
2.94
2.6
3.7
—
—
—
0
0
57
396
1.95
2.86
3.4
3.4
0.00
0.00
estimate
—
10
66
19
89
2.38
2.64
1.7
1.4
—
—
—
0
0
55
387
1.88
2.58
6.1
9.5
1.22
1.22
mmol/l
0.15
47
346
55
390
1.85
2.49
3.4
3.4
0.00
0.00
estimate
—
8
71
55
392
1.84
2.43
5.5
4.7
0.00
0.00
estimate
—
10
70
47
323
1.82
2.31
2.6
3.1
6.00
5.99
ph
—
6
39
6
13
4.82
2.30
1.5
1.0
—
—
—
0
0
60
445
1.80
2.28
6.5
7.2
—
—
—
0
0
12
48
2.69
2.27
1.5
4.0
—
—
—
0
0
69
535
1.83
2.25
3.2
3.8
—
—
—
0
0
20
105
2.12
2.13
8.0
14.1
25.85
24.83
mmol/l
0.73
20
105
29
176
1.89
2.08
2.6
2.2
—
—
—
0
0
6
15
4.17
2.07
2.2
1.1
—
—
—
0
0
6
15
4.17
2.07
3.2
2.7
—
—
—
0
0
18
94
2.10
1.94
1.7
1.7
—
—
—
0
0
106
1007
+∞
1.93
19.8
17.7
39.26
40.62
%
0.82
96
964
106
1006
+∞
1.92
19.5
17.2
262.40
260.53
e9/l
0.09
101
979
9
34
2.80
1.91
5.1
20.0
—
—
—
0
0
31
198
1.80
1.88
2.6
3.5
0.00
0.00
estimate
—
9
69
36
241
1.75
1.87
2.1
2.8
10.79
39.06
ng/l
1.80
19
140
6
17
3.67
1.86
1.0
1.1
—
—
—
0
0
61
472
1.69
1.86
6.0
6.6
0.04
0.04
e9/l
0.12
56
403
62
483
1.68
1.83
6.5
7.0
0.19
0.20
e9/l
0.23
57
422
61
474
1.68
1.82
6.0
6.6
0.55
0.57
e9/l
0.30
56
406
23
135
1.90
1.81
1.6
3.6
4.58
1.76
e6/l
0.64
13
70
75
617
1.74
1.79
4.1
3.9
9.59
10.02
mm/h
0.12
69
581
62
489
1.65
1.70
3.8
3.8
—
82.00
—
0
7
34
235
1.66
1.54
3.1
3.3
0.16
0.36
e6/l
0.79
28
173
5
15
3.44
1.54
3.4
2.1
8.94
8.46
kpa
—
5
15
5
15
3.44
1.54
3.4
2.1
4.98
5.06
kpa
—
5
15
91
806
1.91
1.52
3.7
3.8
4.75
4.74
mmol/l
0.02
84
768
27
176
1.72
1.51
2.3
2.5
2.18
1.08
mg/l
0.29
17
138
99
912
2.29
1.46
12.3
10.0
—
—
—
0
0
11
54
2.16
1.38
1.2
1.5
—
—
—
0
0
0
38
0.00
1.37
0.0
1.7
—
—
—
0
0
19
115
1.79
1.36
1.2
2.1
—
—
—
0
0
87
771
1.72
1.31
3.3
3.5
1.26
1.27
mmol/l
0.06
80
725
35
255
1.56
1.26
3.3
3.5
15.74
25.16
e6/l
0.54
28
194
50
394
1.51
1.26
4.3
7.9
19.67
13.80
umol/l
0.45
45
377
26
177
1.62
1.23
2.5
3.1
—
—
—
0
0
8
38
2.19
1.21
2.1
5.8
—
—
—
0
0
90
811
1.73
1.19
3.8
4.1
2.89
2.86
mmol/l
0.11
82
766
34
252
1.51
1.12
2.6
2.4
—
—
—
0
0
15
90
1.78
1.11
2.1
7.3
23.27
23.50
mmol/l
0.12
15
90
7
32
2.27
1.10
3.6
2.2
—
—
—
0
0
23
158
1.58
1.05
3.3
2.7
556.48
528.13
mosm/kgh2o
0.22
23
131
11
61
1.90
1.03
5.2
3.2
—
—
—
0
0
88
798
1.61
1.01
3.6
3.8
1.44
1.47
mmol/l
0.29
82
752
34
261
1.45
0.93
7.4
6.7
—
—
—
0
0
7
121
0.55
0.84
1.0
1.3
—
—
—
0
0
51
429
1.36
0.81
8.3
9.2
0.00
0.00
e9/l
0.49
46
341
13
194
0.62
0.81
6.2
3.8
16.28
100.88
mg/mmol
—
6
121
74
661
1.40
0.80
4.3
3.8
14.51
14.64
pmol/l
0.19
66
624
12
75
1.68
0.79
11.2
12.5
—
—
—
0
0
0
27
0.00
0.78
0.0
1.2
—
—
—
0
0
15
101
1.57
0.75
5.1
11.9
—
—
—
0
0
27
207
1.41
0.74
3.6
2.6
—
—
—
0
0
31
244
1.38
0.73
3.1
3.1
—
—
—
0
0
7
40
1.80
0.73
7.4
19.9
95.73
93.19
%
—
7
40
7
41
1.76
0.71
7.4
19.3
0.71
0.70
%
—
7
41
17
120
1.50
0.70
2.0
7.5
—
—
—
0
0
7
42
1.71
0.70
7.4
18.9
1.00
1.68
%
—
7
42
36
294
1.34
0.67
1.7
1.9
—
—
—
0
0
11
71
1.61
0.65
1.5
1.6
—
—
—
0
0
5
29
1.76
0.64
1.2
1.3
0.22
0.23
g/l
—
5
29
5
29
1.76
0.64
1.2
1.3
1.01
1.13
g/l
—
5
29
39
325
1.32
0.63
4.2
5.1
38.44
36.32
g/l
1.59
34
312
13
89
1.53
0.61
1.3
1.3
—
—
—
0
0
61
542
1.30
0.61
8.4
10.1
3.96
3.86
e9/l
0.14
56
465
0
21
0.00
0.60
0.0
1.3
—
—
—
0
0
0
22
0.00
0.60
0.0
1.3
—
—
—
0
0
6
39
1.57
0.54
2.5
8.2
0.92
1.75
%
—
6
39
31
256
1.30
0.53
1.4
1.5
—
—
—
0
0
19
147
1.36
0.49
3.7
3.8
63.62
352.33
ng/l
1.37
13
101
37
316
1.26
0.48
3.2
2.4
—
—
—
0
0
35
300
1.25
0.44
3.8
4.3
18.96
41.76
e6/l
0.73
29
206
7
104
0.65
0.42
1.1
1.2
—
—
—
0
0
0
15
0.00
0.41
0.0
2.9
—
18.67
—
0
15
5
34
1.49
0.41
1.6
1.2
—
—
—
0
0
5
35
1.45
0.40
2.4
9.0
0.70
0.71
%
—
5
35
25
210
1.25
0.37
3.9
3.9
7.39
7.41
ph
—
8
36
10
132
0.73
0.34
3.2
1.5
—
—
—
0
0
7
97
0.70
0.32
4.0
1.6
—
—
—
0
0
21
176
1.24
0.32
3.5
2.5
4.98
4.65
e6/l
0.06
21
155
11
86
1.31
0.27
4.4
9.5
107.18
104.20
mmol/l
1.07
11
86
18
151
1.23
0.27
1.3
1.8
—
—
—
0
0
79
757
1.17
0.24
4.1
3.7
5.58
5.74
mmol/l
1.03
73
709
0
11
0.00
0.21
0.0
1.3
—
—
—
0
0
0
10
0.00
0.21
0.0
1.2
—
—
—
0
0
0
12
0.00
0.21
0.0
1.2
—
104.13
—
0
12
9
113
0.78
0.21
2.7
2.1
2.61
2.51
g/l
—
9
107
21
184
1.18
0.21
2.8
1.9
—
—
—
0
0
20
176
1.17
0.19
3.9
4.0
1.54
1.67
ug/l
0.16
20
154
7
57
1.24
0.19
1.1
1.1
—
—
—
0
0
17
149
1.17
0.17
1.0
1.3
1.26
3.35
u/ml
—
5
60
9
80
1.14
0.15
1.0
1.5
—
—
—
0
0
17
150
1.16
0.15
1.0
1.3
16.93
29.35
iu/ml
—
6
46
9
82
1.11
0.15
1.7
1.4
—
—
—
0
0
25
228
1.13
0.15
1.2
1.5
2.23
2.11
g/l
0.16
15
123
69
712
0.91
0.13
4.3
4.6
38.22
38.85
mmol/mol
0.30
64
677
11
97
1.15
0.09
1.0
1.2
—
—
—
0
0
6
57
1.06
0.08
1.7
1.8
—
—
—
0
0
7
63
1.12
0.08
1.4
1.4
—
—
—
0
0
25
265
0.93
0.08
2.0
1.8
82.65
101.29
pmol/l
1.07
11
128
16
152
1.06
0.02
2.7
1.6
—
—
—
0
0
10
93
1.08
0.02
1.4
3.3
1.49
1.63
%
—
10
87
10
93
1.08
0.02
1.3
1.2
—
—
—
0
0
12
123
0.97
0.00
2.4
2.1
12.03
14.27
umol/l
0.61
12
117
0
7
0.00
0.00
0.0
1.3
—
—
—
0
0
0
8
0.00
0.00
0.0
2.8
—
21.31
—
0
8
0
7
0.00
0.00
0.0
1.9
—
—
—
0
0
0
7
0.00
0.00
0.0
1.1
—
—
—
0
0
0
7
0.00
0.00
0.0
1.0
—
—
—
0
0
0
8
0.00
0.00
0.0
1.8
—
5.23
—
0
8
0
8
0.00
0.00
0.0
35.0
—
140.50
—
0
8
0
7
0.00
0.00
0.0
1.1
—
—
—
0
0
0
7
0.00
0.00
0.0
1.6
—
—
—
0
0
0
7
0.00
0.00
0.0
1.3
—
—
—
0
0
0
7
0.00
0.00
0.0
1.3
—
—
—
0
0
0
7
0.00
0.00
0.0
1.0
—
—
—
0
0
0
8
0.00
0.00
0.0
1.1
—
—
—
0
0
0
7
0.00
0.00
0.0
3.1
—
139.00
—
0
7
0
6
0.00
-0.00
0.0
1.5
—
1.73
—
0
6
0
6
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
5
0.00
-0.00
0.0
22.2
—
809.20
—
0
5
0
5
0.00
-0.00
0.0
3.6
—
8.56
—
0
5
0
6
0.00
-0.00
0.0
4.3
—
—
—
0
0
0
5
0.00
-0.00
0.0
3.6
—
—
—
0
0
0
9
0.00
-0.00
0.0
1.9
—
0.81
—
0
9
0
6
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.7
—
2.36
—
0
6
0
5
0.00
-0.00
0.0
1.2
—
—
—
0
0
5
53
0.94
-0.00
3.6
2.2
1.54
5.13
ug/l
—
5
46
0
5
0.00
-0.00
0.0
24.0
—
1451.60
—
0
5
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
2.0
—
2.50
—
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
5
0.00
-0.00
0.0
9.4
—
0.57
—
0
5
0
6
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.2
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.7
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.2
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.5
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.4
—
—
—
0
0
0
9
0.00
-0.00
0.0
1.4
—
—
—
0
0
0
6
0.00
-0.00
0.0
3.0
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.2
—
—
—
0
0

Mortality – FinRegistry

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

Relationships between endpoints

Index endpoint: Q17_CONGEN_MALFO_LUNG_WIDE – Congenital malformations of lung

GWS hits: -

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