Congenital malformations of trachea and bronchus

Q17_CONGEN_MALFO_TRACHEA_BRONCHUS

Endpoint definition

Report an error or suggest an improvement for this endpoint codes

Endpoint definition steps

FinnGen

Phenotype data

520210

1. Apply sex-specific rule

None

520210

2. Check conditions

None

520210

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

Registry filters:

  • Hospital discharge: ICD-10 Q32
  • Cause of death: ICD-10 Q32

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

319

4. Check minimum number of events

None

319

5. Include endpoints

None

319

6. Filter based on genotype QC (FinnGen only)

319

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 tracheae et bronchorum

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 2594 1354 1230
Only index persons 2115 1173 942
Unadjusted period prevalence (%)
Whole population 0.04 0.04 0.03
Only index persons 0.04 0.04 0.04
Median age at first event (years)
Whole population 44.83 59.59 28.36
Only index persons 55.76 60.59 49.76

-FinnGen-

Key figures

All Female Male
Number of individuals 319 203 116
Unadjusted period prevalence (%) 0.06 0.07 0.05
Median age at first event (years) 59.88 59.22 61.04

-FinRegistry-

Age distribution of first events

01020304050607080900100200300400500600700800AgeIndividuals

-FinnGen-

Age distribution of first events

010204050607080010203040506070AgeIndividuals

-FinRegistry-

Year distribution of first events

197019751980198519901995200020052010201520202022050100150200250300350400450500550YearIndividuals

-FinnGen-

Year distribution of first events

1970197519801985199019952000200520102015202020230102030405060708090100110YearIndividuals

-FinRegistry-

Cumulative Incidence Function

01020304050607080901000.00.10.20.30.40.50.60.70.80.91.0AgeProbability of first incidence (%)

-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
301
Matched controls
3009
Code
Vocabulary
Description
Odds Ratio
-log10(p)
N matched cases
N matched controls
Q32.21
ICD-10 Finland
Secondary congenital bronchomalacia
+∞
170.5
147
*
UGC12
NOMESCO Finland
Flexible bronchoscopy
42.0
138.7
181
104
Q32.0
ICD-10 Finland
Congenital tracheomalacia
1552.6
113.2
103
*
R03BB04
ATC
tiotropium bromide; inhalant
11.4
54.9
114
153
R03AC02
ATC
salbutamol; inhalant
8.7
54.1
255
1173
J45.9
ICD-10 Finland
Asthma, unspecified
6.8
45.8
143
351
J98.0
ICD-10 Finland
Diseases of bronchus, not elsewhere classified
263.4
45.3
45
*
R03AK06
ATC
salmeterol and fluticasone; inhalant
7.6
44.2
120
240
R03DC03
ATC
montelukast; oral
6.9
40.8
120
264
XG412
NOMESCO Finland
Flow-volume spirometry with bronchospasmolysis
12.4
40.6
77
81
Q32.20
ICD-10 Finland
Congenital bronchomalacia
+∞
37.3
35
*
203
Kela drug reimbursment
Chronic asthma and similar chronic obstructive pulmonary diseases
5.3
34.7
132
385
R03BA05
ATC
fluticasone; inhalant
5.3
34.2
130
377
J46
ICD-10 Finland
Status asthmaticus
30.9
34.0
45
17
H02AB06
ATC
prednisolone; systemic
4.6
33.8
206
964
R06.0
ICD-10 Finland
Dyspnoea
4.8
32.7
142
471
J45.1
ICD-10 Finland
Nonallergic asthma
8.1
32.2
78
124
J18.9
ICD-10 Finland
Pneumonia, unspecified
4.6
29.7
130
425
R05
ICD-10 Finland
Cough
4.5
26.9
118
379
XG410
NOMESCO Finland
Flow-volume spirometry
10.9
26.9
53
58
R03BA08
ATC
ciclesonide; inhalant
6.7
24.2
66
121
R03DA04
ATC
theophylline; systemic, rectal
10.1
24.0
49
57
XG470
NOMESCO Finland
Measurement of diffusion capastity of the lungs
15.9
23.3
38
27
GD1AA
NOMESCO Finland
Thorax X-ray examination
3.5
23.3
184
938
J47
ICD-10 Finland
Bronchiectasis
21.1
23.2
34
18
R03BC03
ATC
nedocromil; inhalant
7.2
23.2
59
98
J45.0
ICD-10 Finland
Predominantly allergic asthma
5.9
22.5
68
142
G47.3
ICD-10 Finland
Sleep apnoea
4.1
21.8
102
337
J45.8
ICD-10 Finland
Mixed asthma
14.4
21.3
36
28
J20.9
ICD-10 Finland
Acute bronchitis, unspecified
4.1
21.1
97
314
R96
ICPC
Asthma
5.3
20.7
68
156
R03BA02
ATC
budesonide; inhalant
4.0
20.1
93
301
R03AK08
ATC
formoterol and beclometasone; inhalant
10.8
20.1
39
41
DM1QA
NOMESCO Finland
Paranasal sinuses X-ray examination in one projection
8.7
20.0
44
58
UGC02
NOMESCO Finland
Rigid bronchoscopy
49.5
19.5
23
5
J15.9
ICD-10 Finland
Bacterial pneumonia, unspecified
5.4
18.6
59
129
R03AL01
ATC
fenoterol and ipratropium bromide; inhalant
13.1
18.3
32
27
R91
ICD-10 Finland
Abnormal findings on diagnostic imaging of lung
5.0
18.2
62
147
R02
ICPC
Shortness of breath/dyspnoea
4.3
17.4
70
196
J01MA14
ATC
moxifloxacin; systemic
5.3
17.4
56
124
R03AK07
ATC
formoterol and budesonide; inhalant
3.7
17.4
88
303
R03BB01
ATC
ipratropium bromide; inhalant
8.4
17.0
38
51
Q32.10
ICD-10 Finland
Other congenital malformations of trachea
+∞
16.8
16
*
R05
ICPC
Cough
3.2
16.5
110
462
R03AC12
ATC
salmeterol; inhalant
7.8
16.3
38
55
R03AL02
ATC
salbutamol and ipratropium bromide; inhalant
26.2
16.2
22
9
J01FA06
ATC
roxithromycin; oral
2.8
15.8
151
800
SPAT1263
SPAT
Sampling
2.7
15.7
167
941
XG474
NOMESCO Finland
Exhalation nntrogen oxide
9.9
14.6
29
32
GD1CD
NOMESCO Finland
Thorax extensive CT-examination
23.7
14.4
20
9
WX704
NOMESCO Finland
Intubation
4.8
14.3
49
116
UDQ12
NOMESCO Finland
Flexible laryngoscopy
6.2
14.0
38
68
GD1DD
NOMESCO Finland
High resolution CT examination of lungs
6.8
13.8
35
57
GD1BD
NOMESCO Finland
Thorax extensive CT-examination
6.0
13.6
38
71
R03AC03
ATC
terbutaline; inhalant
3.4
13.2
71
251
GD1AD
NOMESCO Finland
Thorax CT examination
7.8
13.1
30
42
UDH02
NOMESCO Finland
Rhinopharyngoscopy
5.1
13.1
42
92
R06.2
ICD-10 Finland
Wheezing
6.1
13.0
36
66
TPH04
NOMESCO Finland
Cathetrisation of vein
2.9
12.9
93
401
R03BA01
ATC
beclometasone; inhalant
3.3
12.9
71
255
Z01.8
ICD-10 Finland
Other specified special examinations
2.8
12.8
97
431
R03AK04
ATC
salbutamol and sodium cromoglicate; inhalant
25.6
12.6
17
7
J01CR02
ATC
amoxicillin and beta-lactamase inhibitor; systemic
2.4
12.5
182
1161
WX700
NOMESCO Finland
Respiratory and circulatory monitoring
3.1
12.2
77
302
C03CA01
ATC
furosemide; systemic
2.6
12.1
115
582
R03AK10
ATC
vilanterol and fluticasone furoate; inhalant
7.2
12.1
29
44
SPAT1256
SPAT
Intramuscular and subcutaneous injection
2.4
11.9
152
896
WX725
NOMESCO Finland
Noninvasive ventilation
5.4
11.9
36
74
R03AC13
ATC
formoterol; inhalant
5.5
11.8
35
70
SPAT1059
SPAT
Spirometry at the office
5.7
11.8
34
66
N03AX16
ATC
pregabalin; oral
2.7
11.6
93
425
R03AK11
ATC
formoterol and fluticasone; inhalant
9.8
11.2
22
24
R03AL09
ATC
formoterol, glycopyrronium bromide and beclometasone; inhalant
10.7
11.2
21
21
J01FA10
ATC
azithromycin; systemic
2.3
11.2
194
1315
R99
ICPC
Respiratory disease other
12.6
11.0
19
16
XG405
NOMESCO Finland
Education on PEF monitoring
18.7
10.8
16
9
J01MA12
ATC
levofloxacin; systemic
2.9
10.8
75
313
GD1UA
NOMESCO Finland
Thorax X-ray examination outside radiological department
3.0
10.8
68
266
R04.2
ICD-10 Finland
Haemoptysis
6.5
10.6
27
45
WX892
NOMESCO Finland
Monitored bed care
3.7
10.5
47
143
5191A
ICD-9 Finland
Other diseases of respiratory system, Other diseases of trachea and bronchus, not elsewhere classified
+∞
10.5
10
*
Q32.4
ICD-10 Finland
Other congenital malformations of bronchus
+∞
10.5
10
*
R06.1
ICD-10 Finland
Stridor
33.8
10.4
13
*
UJD10
NOMESCO Finland
Esophagoscopy, gastroscopy and duodenoscopy
2.4
10.4
107
557
I50.9
ICD-10 Finland
Heart failure, unspecified
3.2
10.2
57
206
R03AK03
ATC
[D] fenoterol & other drugs for obstructive airway dis; inhalant
4.7
10.1
34
79
GD1PA
NOMESCO Finland
X-ray examination of the lungs in one projection
3.5
10.1
49
159
J01AA02
ATC
doxycycline; systemic
2.4
9.9
234
1785
J42
ICD-10 Finland
Unspecified chronic bronchitis
14.0
9.8
16
12
FB1BD
NOMESCO Finland
Extensive CT examination of arteria pulmonalis
4.2
9.8
37
97
GD1ED
NOMESCO Finland
Extensive high resolution CT examination of lungs
8.0
9.6
21
28
Q32.11
ICD-10 Finland
Congenital tracheo-esophageal fissure
+∞
9.4
9
*
A02BC05
ATC
esomeprazole; systemic
2.2
9.3
138
843
J44.8
ICD-10 Finland
Other specified chronic obstructive pulmonary disease
3.5
9.1
43
137
DM1AA
NOMESCO Finland
Paranasal sinuses X-ray examination without contrast
6.3
9.0
23
39
Y83
ICD-10 Finland
Surgical operation and other surgical procedures as the cause of abnormal reaction of the patient, or of later complication, without mention of misadventure at the time of the procedure
3.8
8.9
38
111
E27.3
ICD-10 Finland
Drug-induced adrenocortical insufficiency
51.5
8.7
10
*
H02AB04
ATC
methylprednisolone; systemic
2.7
8.7
62
260
J96.1
ICD-10 Finland
Chronic respiratory failure
9.4
8.7
17
19
C01DA02
ATC
glyceryl trinitrate; oral, oral aerosol, sublingual, transdermal
2.4
8.6
79
382
FM1EE
NOMESCO Finland
Extensive structural and functional ultrasound examination of heart
2.4
8.6
85
427
R01AD58
ATC
fluticasone, combinations; inhalant, nasal
2.5
8.6
74
344
J01FA09
ATC
clarithromycin; systemic
2.2
8.6
103
567
R06.5
ICD-10 Finland
Mouth breathing
3.4
8.5
41
132
7862A
ICD-9 Finland
Symptoms involving respiratory system and other chest symptoms, Cough
20.7
8.5
12
6
R01AD09
ATC
mometasone; nasal
2.1
8.5
141
896
J45
ICD-10 Finland
Asthma
3.2
8.4
46
161
SPAT1301
SPAT
No procedures
2.1
8.4
118
699
SPAT1230
SPAT
Aid fitting and borrowing and monitoring of use
2.6
8.3
68
307
GD1QA
NOMESCO Finland
Supine thorax X-ray examination
2.6
8.3
63
275
R01AD08
ATC
fluticasone; nasal
2.2
8.2
97
529
J32.0
ICD-10 Finland
Chronic maxillary sinusitis
3.4
8.1
39
126
TGC00
NOMESCO Finland
Bronchial lavation
8.1
8.0
17
22
J10.1
ICD-10 Finland
Influenza with other respiratory manifestations, seasonal influenza virus identified
8.8
7.9
16
19
J44.0
ICD-10 Finland
Chronic obstructive pulmonary disease with acute lower respiratory infection
4.9
7.9
25
55
J06.9
ICD-10 Finland
Acute upper respiratory infection, unspecified
2.0
7.7
140
910
H02AB07
ATC
prednisone; oral
2.6
7.7
57
244
Z01.5
ICD-10 Finland
Diagnostic skin and sensitization tests
3.2
7.6
42
147
GCA98
NOMESCO Finland
Other bronchoscopic procedure on bronchus
25.8
7.6
10
*
WX408
NOMESCO Finland
General anesthesy, balanced
2.1
7.5
101
581
R09
ICPC
Sinus symptom/complaint
3.5
7.4
34
106
Z93.0
ICD-10 Finland
Tracheostomy status
+∞
7.3
7
*
GBA32
NOMESCO Finland
Endoscopic dilatation of trachea
+∞
7.3
7
*
GCA18
NOMESCO Finland
Bronchoscopic dilatation of bronchus
+∞
7.3
7
*
A02BA02
ATC
ranitidine; systemic
2.4
7.3
69
335
J22
ICD-10 Finland
Unspecified acute lower respiratory infection
4.1
7.3
27
70
UDQ02
NOMESCO Finland
Direct laryngoscopy
16.2
7.3
11
7
J01CA04
ATC
amoxicillin; systemic
2.3
7.3
253
2097
Z50.9
ICD-10 Finland
Care involving use of rehabilitation procedure, unspecified
5.3
7.3
21
42
SPAT1058
SPAT
PEF monitoring instruction
3.1
7.2
40
141
J41.0
ICD-10 Finland
Simple chronic bronchitis
20.6
7.2
10
5
TPH07
NOMESCO Finland
Cathetrisation of artery
2.7
7.1
49
202
R95
ICPC
Chron obstructive pulmonary disease
6.6
7.0
17
27
J01.0
ICD-10 Finland
Acute maxillary sinusitis
2.3
7.0
72
366
WX722
NOMESCO Finland
PEEP
4.0
7.0
27
73
J44.1
ICD-10 Finland
Chronic obstructive pulmonary disease with acute exacerbation, unspecified
5.6
6.9
19
36
J40
ICD-10 Finland
Bronchitis, not specified as acute or chronic
5.9
6.9
18
32
504
Kela drug reimbursment
Conditions requiring daily forced enteral nutrition
11.3
6.9
12
11
H02AB09
ATC
hydrocortisone; systemic
5.4
6.8
19
37
SPAT1253
SPAT
Initiation, adjustment, discontinuation or repetition of medication
2.0
6.8
113
704
N02AX02
ATC
tramadol; systemic, rectal
1.9
6.7
129
843
R01AD12
ATC
fluticasone furoate; nasal
2.1
6.7
91
519
FL1AC
NOMESCO Finland
Left cardioangiography
12.6
6.6
11
9
R28
ICPC
Limited function/disability (R)
10.4
6.6
12
12
N06AA09
ATC
amitriptyline; systemic
2.8
6.5
41
159
A01AB04
ATC
amphotericin B; local oral
3.8
6.5
26
73
N05CF01
ATC
zopiclone; oral
2.0
6.5
102
618
R29
ICPC
Respiratory symptom/complaint other
3.6
6.5
28
84
UGB02
NOMESCO Finland
Tracheoscopy
71.3
6.4
7
*
Q23.11
ICD-10 Finland
Bicuspid aortic valve
14.7
6.4
10
7
R5140
NOMESCO Finland
Monitoring the use of the aid
3.0
6.4
37
136
R49.01
ICD-10 Finland
Functional dysphonia
6.8
6.4
15
23
R03AL06
ATC
olodaterol and tiotropium bromide; inhalant
8.4
6.4
13
16
R06.8
ICD-10 Finland
Other and unspecified abnormalities of breathing
9.6
6.3
12
13
Q32.18
ICD-10 Finland
Other congenital malformations of trachea
+∞
6.3
6
*
XX6XT
NOMESCO Finland
Other intravascular therapy with radiological guidance
+∞
6.3
6
*
Q23.10
ICD-10 Finland
Congenital insufficiency of aortic valve
+∞
6.3
6
*
R05FA02
ATC
opium derivatives and expectorants; systemic
1.9
6.2
120
779
R44
ICPC
Respiratory, Preventive immunization/medic
7.9
6.2
13
17
Q21.08
ICD-10 Finland
Other specifed ventricular septal defect
12.9
6.1
10
8
R49.08
ICD-10 Finland
Other specified dysphonia
6.9
6.1
14
21
SPAT1148
SPAT
Treatment of chronic ulcer or burn
2.5
6.1
50
226
TDM10
NOMESCO Finland
Puncture of maxillary antrum
3.9
6.0
23
62
SPAT1028
SPAT
Ultrasound examination of paranasal sinuses
3.4
6.0
28
89
R2130
NOMESCO Finland
Counselling and guidance which enhance independent living
2.7
6.0
39
155

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
107
165
9.25
71.37
2.1
1.3
104.88
269.30
u/ml
0.57
96
147
54
31
20.77
67.71
5.0
2.7
—
—
—
0
0
91
198
6.03
42.11
4.9
3.2
159.20
227.01
ng/l
0.88
83
178
109
358
4.11
29.47
2.2
1.9
—
—
—
0
0
28
22
13.86
29.25
1.8
1.3
0.34
0.06
u/ml
—
22
7
61
132
5.48
27.73
12.6
9.5
—
—
—
0
0
28
26
11.71
26.35
1.7
1.1
—
—
—
0
0
60
155
4.54
21.88
8.0
4.4
—
—
—
0
0
84
286
3.63
20.82
11.1
7.9
2.07
1.26
mmol/l
1.47
75
238
189
1041
3.00
20.42
18.3
8.6
1.22
1.24
inr
0.08
38
308
227
1408
3.12
19.31
10.8
6.5
0.19
0.19
e9/l
0.04
216
1232
209
1263
2.90
18.20
10.9
6.3
0.60
0.69
%
1.48
201
1181
141
696
2.84
18.15
6.5
4.1
—
—
—
0
0
221
1400
2.88
17.15
9.9
6.2
1.88
2.11
e9/l
1.31
213
1239
210
1298
2.81
17.06
10.9
6.2
2.78
2.87
%
0.21
203
1212
217
1364
2.85
17.06
9.6
6.2
0.04
0.04
e9/l
0.87
206
1172
146
753
2.73
17.02
6.1
3.4
744.40
1405.46
ng/l
3.75
131
636
168
931
2.70
16.94
11.1
6.6
—
—
—
0
0
80
299
3.24
16.80
9.9
7.4
—
—
—
0
0
210
1305
2.78
16.76
11.9
6.5
8.75
8.52
%
0.57
202
1227
215
1357
2.79
16.55
9.7
6.2
0.65
0.58
e9/l
3.37
205
1164
78
291
3.22
16.40
8.9
7.5
2.34
1.80
mmol/l
0.91
62
236
213
1344
2.76
16.30
11.0
6.3
26.50
29.83
%
4.36
205
1259
236
1583
2.89
15.77
12.4
9.5
4.56
3.99
e9/l
2.31
221
1381
209
1323
2.68
15.61
10.9
6.1
59.04
55.25
%
4.50
201
1244
80
315
3.06
15.26
2.0
1.6
—
—
—
0
0
26
44
6.34
15.03
2.3
1.7
—
—
—
0
0
26
44
6.34
15.03
2.3
1.7
—
—
—
0
0
26
44
6.34
15.03
2.3
1.7
—
—
—
0
0
26
44
6.34
15.03
2.3
1.7
—
—
—
0
0
29
56
5.60
14.67
4.6
3.8
6.61
7.49
mmol/l
1.19
29
56
56
189
3.38
13.72
1.4
1.4
—
—
—
0
0
144
799
2.46
13.71
3.4
2.4
54.49
56.52
u/l
0.20
138
728
207
1355
2.50
13.60
15.0
7.6
1.22
1.22
mmol/l
0.28
181
1154
148
836
2.44
13.49
4.3
3.3
—
—
—
0
0
77
319
2.86
13.25
1.7
1.3
—
—
—
0
0
112
565
2.51
12.98
3.7
2.2
1.33
1.22
mg/l
0.11
84
445
104
512
2.53
12.64
7.2
3.7
56.07
281.36
ng/l
3.22
85
405
206
1374
2.41
12.55
8.3
6.4
13.03
13.26
umol/l
0.04
199
1286
51
177
3.24
11.88
1.7
1.9
0.95
1.33
g/l
1.29
46
167
21
37
6.01
11.63
1.2
1.2
—
—
—
0
0
222
1564
2.38
11.43
11.1
5.4
6.86
6.60
mmol/l
0.99
212
1452
20
35
6.03
11.15
2.6
3.5
—
—
—
0
0
18
29
6.52
10.85
1.8
4.3
11.46
10.86
%
0.08
13
22
20
37
5.70
10.54
1.9
3.7
1.74
1.38
e9/l
0.38
14
18
172
1132
2.13
9.91
7.3
4.9
34.19
35.60
g/l
2.19
160
1062
20
40
5.27
9.70
3.0
2.4
—
—
—
0
0
58
243
2.70
9.58
14.5
6.9
7.41
7.42
ph
—
8
22
28
75
4.00
9.55
6.9
5.2
—
—
—
0
0
32
95
3.63
9.45
3.6
2.0
1.28
3.83
ug/l
0.42
26
87
20
41
5.14
9.44
3.0
2.4
105.35
105.39
mmol/l
0.01
20
41
20
41
5.14
9.44
2.9
2.4
3.91
3.98
mmol/l
0.30
20
41
126
749
2.13
9.35
2.9
2.0
138.66
241.56
u/l
1.41
115
705
20
43
4.90
8.95
2.5
2.0
—
—
—
0
0
17
32
5.56
8.78
1.8
3.7
0.36
0.22
e9/l
0.52
12
22
249
1939
2.29
8.73
7.7
4.1
13.80
12.31
mm/h
0.80
240
1769
95
521
2.17
8.55
2.0
1.8
84000635.30
470.42
pmol/l
0.49
75
428
11
13
8.73
8.51
1.7
1.1
—
—
—
0
0
17
33
5.39
8.50
1.7
3.6
636.75
547.95
e6/l
0.25
12
22
50
206
2.69
8.50
2.8
3.6
66.81
66.27
g/l
0.21
43
183
67
325
2.34
8.06
1.7
1.3
1240.00
562.13
titre
0.66
12
75
109
656
2.00
7.52
2.9
2.2
3.26
3.19
mg/l
0.05
96
565
167
1162
1.92
7.49
6.3
4.2
—
—
—
0
0
230
1794
2.01
7.20
7.5
4.6
—
—
—
0
0
11
16
7.08
7.19
1.2
1.3
—
—
—
0
0
50
225
2.45
7.06
4.0
4.6
1.06
0.69
%
—
8
76
10
6
17.15
6.78
6.4
4.2
—
—
—
0
0
20
54
3.88
6.75
1.3
2.1
—
—
—
0
0
10
14
7.34
6.73
1.3
1.8
—
—
—
0
0
177
1290
1.84
6.55
5.8
4.0
0.00
0.00
estimate
0.00
22
238
115
735
1.88
6.47
4.3
3.9
10.00
34.10
mg/mmol
0.48
76
461
20
56
3.74
6.42
4.2
4.1
—
—
—
0
0
174
1268
1.82
6.38
5.7
4.0
0.00
0.00
estimate
0.00
23
243
82
470
2.00
6.36
1.7
1.7
900.44
1204.25
nmol/l
3.17
60
341
111
709
1.87
6.22
5.6
3.7
—
—
—
0
0
74
414
2.03
6.12
2.7
2.4
13.15
13.45
umol/l
0.11
65
378
43
193
2.42
6.09
15.6
6.8
—
—
—
0
0
170
1249
1.77
5.90
14.8
7.2
1.20
1.22
mmol/l
2.19
153
1135
69
381
2.03
5.90
2.7
2.4
2.33
2.38
g/l
0.30
61
348
139
964
1.78
5.88
6.6
3.8
27.34
40.15
ng/l
1.12
102
700
33
135
2.61
5.67
2.9
2.4
—
—
—
0
0
14
33
4.39
5.61
1.1
1.3
—
—
—
0
0
44
209
2.28
5.49
4.1
4.8
0.13
0.15
%
—
8
68
65
361
2.01
5.45
2.7
2.5
22.24
22.66
%
0.06
45
317
114
762
1.77
5.36
3.7
3.3
6.57
7.32
mmol/l
1.06
101
638
171
1281
1.72
5.35
8.6
5.4
0.00
0.00
estimate
0.00
22
243
38
173
2.36
5.22
2.7
2.9
—
—
—
0
0
88
557
1.80
4.92
6.0
4.1
1.02
1.02
kg/l
0.01
20
86
11
24
4.71
4.82
2.1
4.3
572.00
533.64
e6/l
—
5
11
239
1997
1.78
4.77
10.8
7.0
78.88
84.32
u/l
0.88
230
1858
104
697
1.73
4.75
3.4
3.0
623.96
243.76
mg/l
0.29
64
447
151
1121
1.66
4.69
3.7
2.4
80.37
78.20
nmol/l
0.44
137
982
273
2384
2.01
4.65
36.6
15.7
37.00
39.41
%
1.90
144
1745
292
2621
2.35
4.52
36.1
14.2
20.84
23.19
mg/l
0.88
270
2038
33
152
2.31
4.42
16.8
8.3
9.01
8.87
kpa
0.17
33
142
31
139
2.36
4.41
6.0
4.0
—
—
—
0
0
18
61
3.07
4.35
8.3
3.8
—
—
—
0
0
70
430
1.80
4.27
9.7
4.7
0.84
0.81
mmol/l
0.75
64
404
213
1752
1.65
4.21
5.6
3.8
—
—
—
0
0
88
585
1.70
4.06
6.2
4.7
—
—
—
0
0
43
229
2.01
4.02
3.6
3.6
78.70
70.07
e9/l
0.77
30
173
42
222
2.03
4.01
6.0
4.3
70.83
70.53
ng/l
0.01
37
197
44
238
1.98
3.94
13.0
8.0
8.58
8.20
mmol/l
0.14
39
227
148
1133
1.57
3.82
3.5
2.8
99.97
113.15
ug/l
0.39
139
1036
21
84
2.61
3.80
1.1
1.3
—
1.41
—
0
7
6
5
12.19
3.77
1.0
1.0
—
—
—
0
0
136
1025
1.57
3.73
2.2
2.0
98.19
95.71
pmol/l
0.22
72
510
109
788
1.58
3.55
3.9
3.5
7.41
7.40
ph
0.16
14
154
95
670
1.60
3.41
2.2
1.7
1.37
1.32
mmol/l
0.33
82
566
86
594
1.61
3.36
1.8
1.5
2.11
2.20
g/l
0.18
68
332
13
43
3.11
3.29
2.5
1.9
—
—
—
0
0
18
72
2.59
3.27
2.4
5.4
37.17
24.65
mg/l
0.35
13
58
18
72
2.59
3.27
2.4
5.4
24.69
149.38
mg/l
0.79
13
58
63
411
1.66
3.07
1.7
1.8
—
—
—
0
0
81
563
1.59
3.06
5.0
3.2
522.61
535.48
mosm/kgh2o
0.23
71
477
52
322
1.73
3.06
4.9
3.6
1.83
1.71
%
0.50
44
290
9
21
4.38
3.01
1.2
1.0
—
—
—
0
0
7
14
5.09
2.74
1.3
1.2
—
—
—
0
0
64
432
1.60
2.72
1.3
1.3
16.11
30.89
iu/ml
1.55
18
138
228
1997
1.50
2.68
5.7
3.9
14.84
14.81
pmol/l
0.07
216
1785
14
55
2.62
2.65
1.6
6.4
—
—
—
0
0
5
7
7.23
2.56
1.0
1.4
—
—
—
0
0
6
11
5.53
2.55
4.7
5.2
—
—
—
0
0
85
622
1.50
2.51
1.6
1.5
23.32
21.67
nmol/l
0.31
70
522
247
2215
1.51
2.44
42.6
18.5
331.80
332.00
g/l
0.11
247
2202
6
12
5.07
2.41
1.2
1.2
—
—
—
0
0
43
271
1.68
2.39
1.5
1.7
—
—
—
0
0
5
8
6.33
2.38
15.6
4.3
—
—
—
0
0
86
638
1.48
2.37
3.7
3.0
10305.89
7365.28
umol/l
0.16
74
544
43
272
1.67
2.36
16.2
8.9
—
—
—
0
0
36
217
1.74
2.34
3.2
2.3
6.02
5.54
ug/l
0.12
28
193
15
66
2.34
2.28
1.3
1.3
4.83
3.52
u/ml
—
9
40
46
305
1.59
2.11
7.0
3.4
7.23
8.63
umol/l
0.24
39
260
19
96
2.04
2.10
6.3
4.8
—
—
—
0
0
9
31
2.96
2.09
1.6
1.4
—
—
—
0
0
261
2392
1.50
2.08
6.8
4.7
1.98
2.45
mu/l
0.44
248
2172
103
809
1.40
2.06
4.3
2.5
—
—
—
0
0
97
762
1.39
1.92
7.3
4.0
—
—
—
0
0
249
2273
1.44
1.92
8.3
5.9
40.98
39.99
mmol/mol
0.85
233
2106
40
263
1.60
1.91
1.5
1.4
—
—
—
0
0
34
216
1.64
1.86
1.6
1.4
—
—
—
0
0
49
340
1.52
1.85
1.4
1.2
—
—
—
0
0
20
346
0.55
1.85
2.6
3.0
0.79
0.72
ug/l
0.09
12
230
57
410
1.48
1.82
1.3
1.3
9.60
8.00
u/ml
0.08
23
153
7
23
3.09
1.81
1.7
1.2
—
—
—
0
0
13
60
2.22
1.80
1.2
1.2
0.82
1.76
u/ml
—
7
41
34
219
1.62
1.77
3.6
3.9
1.25
1.23
mmol/l
0.49
29
192
6
18
3.38
1.75
1.5
1.2
—
—
—
0
0
286
2697
1.58
1.73
31.4
12.9
—
—
—
0
0
17
89
1.96
1.73
1.4
1.8
36.06
22.01
iu/l
0.84
17
70
27
166
1.68
1.68
1.3
1.2
96.27
173.00
iu/ml
0.83
11
55
8
31
2.62
1.67
1.3
1.2
—
—
—
0
0
8
31
2.62
1.67
1.1
1.6
—
—
—
0
0
61
454
1.42
1.63
5.1
3.4
4.10
2.89
e6/l
0.34
45
247
6
20
3.04
1.59
1.3
1.3
—
—
—
0
0
11
50
2.24
1.58
4.1
3.3
56.64
56.90
%
0.02
11
50
106
871
1.32
1.54
5.3
3.6
14.12
114.45
e6/l
0.74
89
661
256
2378
1.39
1.53
5.2
4.4
1.44
1.49
mmol/l
1.06
235
2175
16
86
1.91
1.53
1.6
1.2
—
—
—
0
0
24
147
1.68
1.52
1.4
1.2
—
—
—
0
0
37
254
1.52
1.49
3.0
2.6
0.22
0.21
g/l
0.20
37
242
247
2290
1.35
1.43
4.5
4.0
1.30
1.27
mmol/l
0.37
229
2085
259
2419
1.38
1.42
5.6
4.5
5.90
5.95
mmol/l
0.25
243
2195
287
2730
1.51
1.41
16.8
10.3
25.10
25.17
u/l
0.03
278
2622
7
29
2.44
1.40
6.7
2.6
16.84
37.30
mu/l
—
7
29
25
159
1.62
1.39
1.0
1.3
—
37.03
—
0
9
75
594
1.34
1.39
5.0
3.8
—
—
—
0
0
144
1249
1.28
1.37
16.4
10.3
0.00
0.00
e9/l
0.47
130
1008
5
17
2.97
1.36
1.2
1.4
—
—
—
0
0
6
24
2.53
1.31
1.2
3.4
—
—
—
0
0
256
2398
1.34
1.29
5.3
4.5
4.43
4.64
mmol/l
2.48
238
2205
47
351
1.40
1.25
2.2
2.3
121.33
104.95
ug/g
0.21
36
275
6
25
2.43
1.25
2.5
3.1
—
—
—
0
0
10
49
2.07
1.23
4.0
2.9
4.59
4.30
e9/l
—
10
49
18
109
1.69
1.21
3.6
5.4
0.07
0.32
g/l
—
5
49
33
234
1.46
1.16
1.6
1.7
—
—
—
0
0
11
59
1.90
1.08
4.1
3.1
—
—
—
0
0
11
59
1.90
1.08
1.2
2.8
—
—
—
0
0
6
124
0.47
1.07
1.7
1.5
—
—
—
0
0
38
284
1.38
1.03
3.1
4.1
5.43
23.91
ug/l
0.66
30
236
258
2443
1.29
1.02
6.0
5.0
2.49
2.72
mmol/l
3.86
233
2229
16
99
1.65
1.02
1.9
1.6
—
—
—
0
0
11
61
1.83
0.99
3.5
1.5
—
—
—
0
0
81
679
1.26
0.98
6.5
4.2
0.00
0.00
estimate
0.00
22
238
7
37
1.91
0.94
1.1
1.1
—
—
—
0
0
11
183
0.59
0.94
1.3
1.4
—
—
—
0
0
6
31
1.95
0.85
1.2
1.1
—
—
—
0
0
30
224
1.37
0.83
1.2
1.2
—
—
—
0
0
6
32
1.89
0.82
1.7
1.1
—
—
—
0
0
112
990
1.20
0.82
7.0
4.3
48.53
63.06
e6/l
0.20
89
703
10
58
1.75
0.80
23.0
13.9
—
—
—
0
0
0
24
0.00
0.79
0.0
1.1
—
—
—
0
0
42
335
1.29
0.77
1.5
1.5
—
—
—
0
0
6
34
1.78
0.76
1.0
1.0
—
—
—
0
0
9
56
1.62
0.73
2.2
3.6
12.89
29.24
u/ml
—
9
56
5
26
1.94
0.71
1.0
3.0
9.74
16.48
ug/l
—
5
26
5
26
1.94
0.71
1.2
1.2
—
—
—
0
0
5
26
1.94
0.71
1.0
1.5
—
—
—
0
0
90
791
1.19
0.69
4.7
3.5
0.16
0.52
e6/l
2.63
76
580
75
649
1.20
0.68
1.4
1.4
0.67
1.83
u/ml
1.34
20
146
83
726
1.19
0.67
9.1
7.0
—
—
—
0
0
7
43
1.64
0.67
1.1
1.6
—
—
—
0
0
5
30
1.68
0.61
1.0
1.3
—
—
—
0
0
6
35
1.73
0.58
2.3
1.5
—
—
—
0
0
41
342
1.23
0.55
31.9
22.5
1.48
1.27
inr
—
6
47
22
170
1.32
0.53
2.9
2.6
—
—
—
0
0
5
82
0.60
0.46
4.0
1.5
—
—
—
0
0
5
82
0.60
0.46
4.0
1.5
—
—
—
0
0
5
82
0.60
0.46
4.0
1.5
—
—
—
0
0
5
83
0.60
0.46
4.0
1.5
—
—
—
0
0
66
591
1.15
0.41
3.9
2.8
4.24
6.60
e6/l
0.84
56
515
0
17
0.00
0.41
0.0
2.6
—
497.00
—
0
11
5
35
1.44
0.39
4.2
5.2
—
—
—
0
0
5
36
1.39
0.38
1.2
3.9
—
—
—
0
0
20
161
1.26
0.38
1.5
1.4
—
—
—
0
0
5
77
0.64
0.36
4.0
1.5
—
—
—
0
0
6
44
1.37
0.34
2.2
1.2
—
—
—
0
0
11
82
1.35
0.34
1.9
2.3
13734.62
5607.51
u/l
—
6
28
14
109
1.30
0.34
1.0
1.2
—
—
—
0
0
6
88
0.68
0.33
1.3
2.0
—
—
—
0
0
6
46
1.31
0.33
2.0
1.4
—
—
—
0
0
11
83
1.34
0.32
1.5
1.6
—
—
—
0
0
24
202
1.20
0.32
3.3
3.5
—
—
—
0
0
74
693
1.09
0.23
1.5
1.4
—
—
—
0
0
5
41
1.22
0.22
4.2
5.8
8.56
6.08
mmol/l
—
5
34
0
11
0.00
0.21
0.0
1.3
—
—
—
0
0
0
11
0.00
0.21
0.0
2.5
—
—
—
0
0
0
10
0.00
0.21
0.0
16.4
—
—
—
0
0
0
10
0.00
0.21
0.0
1.0
—
1148.70
—
0
10
0
12
0.00
0.21
0.0
2.3
—
—
—
0
0
0
12
0.00
0.21
0.0
1.2
—
—
—
0
0
0
13
0.00
0.21
0.0
2.2
—
—
—
0
0
6
49
1.23
0.20
3.8
1.8
257.50
215.26
pmol/l
—
6
43
26
291
0.88
0.20
1.4
1.3
—
—
—
0
0
10
81
1.24
0.19
4.7
3.3
—
—
—
0
0
22
196
1.13
0.17
1.8
1.7
—
—
—
0
0
6
76
0.79
0.16
19.5
10.7
—
—
—
0
0
95
913
1.06
0.15
3.5
3.2
2.31
2.36
mmol/l
2.17
84
807
103
1002
1.04
0.10
2.1
2.1
—
—
—
0
0
5
44
1.14
0.10
1.0
1.0
—
—
—
0
0
5
44
1.14
0.10
1.0
1.0
—
-1.87
—
0
12
5
45
1.11
0.10
1.2
1.1
—
—
—
0
0
5
45
1.11
0.10
1.2
1.1
—
—
—
0
0
6
55
1.09
0.09
1.0
1.0
8.27
7.24
mu/l
—
6
55
26
244
1.07
0.08
2.0
1.4
—
—
—
0
0
82
842
0.96
0.07
4.8
3.0
—
—
—
0
0
24
225
1.07
0.07
5.9
4.0
—
—
—
0
0
62
601
1.04
0.07
5.8
4.8
7.98
2.03
ug/l
0.45
56
530
8
90
0.89
0.07
5.1
2.8
—
—
—
0
0
8
94
0.85
0.07
1.0
1.1
—
—
—
0
0
17
160
1.07
0.04
1.1
1.3
—
—
—
0
0
10
98
1.02
0.00
1.3
1.1
—
—
—
0
0
11
111
0.99
0.00
1.3
1.9
—
—
—
0
0
32
323
0.99
0.00
1.0
1.3
—
—
—
0
0
77
767
1.01
0.00
5.2
3.4
—
—
—
0
0
24
245
0.98
0.00
5.3
4.3
—
—
—
0
0
0
7
0.00
0.00
0.0
18.0
—
0.64
—
0
7
0
7
0.00
0.00
0.0
2.0
—
4.26
—
0
7
0
9
0.00
0.00
0.0
1.7
—
—
—
0
0
0
5
0.00
0.00
0.0
1.0
—
—
—
0
0
0
5
0.00
0.00
0.0
1.0
—
—
—
0
0
0
5
0.00
0.00
0.0
1.0
—
—
—
0
0
0
5
0.00
0.00
0.0
1.2
—
—
—
0
0
0
9
0.00
0.00
0.0
2.8
—
4.11
—
0
9
0
5
0.00
0.00
0.0
1.0
—
—
—
0
0
0
7
0.00
0.00
0.0
1.0
—
17.76
—
0
7
0
6
0.00
0.00
0.0
1.5
—
—
—
0
0
9
90
1.00
0.00
1.6
1.2
—
—
—
0
0
0
8
0.00
0.00
0.0
1.6
—
—
—
0
0
6
65
0.92
0.00
1.0
1.1
—
—
—
0
0
0
6
0.00
0.00
0.0
1.2
—
—
—
0
0
0
8
0.00
0.00
0.0
1.5
—
—
—
0
0
0
5
0.00
0.00
0.0
1.0
—
6.15
—
0
5
0
8
0.00
0.00
0.0
9.1
—
7.13
—
0
8
0
8
0.00
0.00
0.0
1.0
—
—
—
0
0

Mortality – FinRegistry

Association

Association between endpoint Q17_CONGEN_MALFO_TRACHEA_BRONCHUS and mortality.

Females

Parameter HR [95% CI] p-value
Q17_CONGEN_MALFO_TRACHEA_BRONCHUS 1.555 [1.29, 1.87] < 0.001
Birth year 0.996 [0.99, 1.0] 0.321

During the follow-up period (1.1.1998 — 31.12.2019), 247 out of 1161 females with Q17_CONGEN_MALFO_TRACHEA_BRONCHUS died.

Males

Parameter HR [95% CI] p-value
Q17_CONGEN_MALFO_TRACHEA_BRONCHUS 1.684 [1.38, 2.06] < 0.001
Birth year 0.986 [0.98, 1.0] 0.004

During the follow-up period (1.1.1998 — 31.12.2019), 213 out of 1065 males with Q17_CONGEN_MALFO_TRACHEA_BRONCHUS died.

Mortality risk

Mortality risk for people of age

years, who have Q17_CONGEN_MALFO_TRACHEA_BRONCHUS.

N-year risk Females Males
1 0.15% 0.306%
5 1.047% 1.854%
10 2.408% 4.856%
15 4.395% 9.008%
20 7.683% 14.552%

Relationships between endpoints

Index endpoint: Q17_CONGEN_MALFO_TRACHEA_BRONCHUS – Congenital malformations of trachea and bronchus

GWS hits: 1

Endpoint
Case Overlap
Survival Analysis
Genetic Correlations
Genetic Signals
N (Jaccard index)
HR [CI]
rg [CI]
Hits
Coloc Hits
FinRegistry
FinnGen
FinRegistry
FinnGen
FinnGen
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