Other congenital malformations of respiratory system

Q17_OTHER_CONGEN_MALFO_RESPI_SYSTEM

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 Q34
  • Cause of death: ICD-10 Q34

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

65

4. Check minimum number of events

None

65

5. Include endpoints

None

65

6. Filter based on genotype QC (FinnGen only)

64

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
Aliae malformationes congenitae systematis respiratorii

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 457 225 232
Only index persons 393 196 197
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 - 43.31 33.85
Only index persons 45.30 46.54 44.08

-FinnGen-

Key figures

All Female Male
Number of individuals 64 37 27
Unadjusted period prevalence (%) 0.01 0.01 0.01
Median age at first event (years) 42.89 43.79 41.65

-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

No data

-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
65
Matched controls
650
Code
Vocabulary
Description
Odds Ratio
-log10(p)
N matched cases
N matched controls
Q34.1
ICD-10 Finland
Congenital cyst of mediastinum
+∞
50.8
42
*
Q34.0
ICD-10 Finland
Anomaly of pleura
+∞
12.9
12
*
R91
ICD-10 Finland
Abnormal findings on diagnostic imaging of lung
11.5
10.6
20
24
UGC12
NOMESCO Finland
Flexible bronchoscopy
13.9
10.0
17
16
GEB30
NOMESCO Finland
Mediastinotomy and excision of lesion
+∞
7.4
7
*
D38.3
ICD-10 Finland
Neoplasm of uncertain or unknown behaviour: Mediastinum
+∞
7.4
7
*
GD1AA
NOMESCO Finland
Thorax X-ray examination
3.9
6.7
38
174
Q34.88
ICD-10 Finland
Other specified congenital malformations of respiratory system
+∞
6.3
6
*
Q33.08
ICD-10 Finland
Congenital cystic lung
+∞
6.3
6
*
R4110
NOMESCO Finland
Physiotherapy
3.7
6.3
32
135
UJD10
NOMESCO Finland
Esophagoscopy, gastroscopy and duodenoscopy
3.8
6.2
26
96
WX700
NOMESCO Finland
Respiratory and circulatory monitoring
4.3
6.0
19
57

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
18
48
4.80
6.63
9.7
6.5
—
—
—
0
0
21
69
4.02
5.87
1.3
2.3
—
—
—
0
0
18
55
4.14
5.52
1.2
1.5
—
—
—
0
0
18
57
3.98
5.24
6.9
9.6
104.00
104.49
mmol/l
0.21
18
57
18
64
3.51
4.39
1.3
1.2
—
—
—
0
0
35
187
2.89
4.25
10.9
10.8
1.18
1.19
inr
—
8
54
16
55
3.53
4.08
6.1
8.4
—
—
—
0
0
26
123
2.86
3.89
6.3
4.6
—
—
—
0
0
20
84
2.99
3.68
4.4
3.5
17.73
75.25
ng/l
0.85
15
57
26
127
2.75
3.63
3.9
3.5
6.88
10.66
mg/mmol
0.36
17
85
51
352
3.08
3.56
3.8
3.3
—
—
—
0
0
10
23
4.94
3.48
8.6
8.9
0.85
1.36
%
—
10
23
10
23
4.94
3.48
8.6
9.0
94.57
94.15
%
—
10
23
10
23
4.94
3.48
8.3
8.9
0.55
0.75
%
—
10
23
42
266
2.64
3.41
9.7
8.0
0.04
0.04
e9/l
0.05
34
231
42
267
2.62
3.37
9.7
8.0
0.53
0.58
e9/l
0.90
34
233
13
45
3.36
3.24
1.9
1.4
—
—
—
0
0
41
261
2.55
3.23
10.8
8.6
—
—
—
0
0
31
174
2.49
3.19
4.7
3.6
2.34
2.36
mmol/l
0.43
24
158
14
52
3.16
3.12
1.2
1.1
—
—
—
0
0
6
8
8.11
3.12
3.5
5.0
37.83
41.15
%
—
6
8
42
274
2.51
3.09
10.6
8.9
0.15
0.19
e9/l
0.97
36
241
42
274
2.51
3.09
9.7
7.9
2.02
2.09
e9/l
0.14
36
245
24
123
2.51
2.96
3.0
3.2
40.94
566.18
mg/l
0.53
19
82
24
123
2.51
2.96
3.8
2.9
—
—
—
0
0
18
80
2.73
2.94
3.4
2.3
14.22
14.76
umol/l
0.07
18
75
6
10
6.48
2.76
2.5
2.7
—
—
—
0
0
27
151
2.35
2.72
3.5
2.6
—
—
—
0
0
16
71
2.66
2.60
3.7
2.2
2.14
2.55
g/l
1.81
16
65
9
26
3.85
2.59
7.9
4.0
29.26
99.63
u/ml
—
9
26
25
138
2.32
2.57
6.7
3.6
7.37
7.42
ph
—
5
21
26
146
2.30
2.57
4.3
2.8
7.78
8.15
mmol/l
0.13
21
134
7
16
4.76
2.55
1.9
4.5
—
—
—
0
0
38
251
2.24
2.53
10.8
7.9
0.63
0.67
%
0.16
38
236
15
66
2.65
2.47
3.9
2.3
27.62
24.45
%
0.20
15
56
25
141
2.26
2.43
17.6
8.8
—
—
—
0
0
44
312
2.27
2.42
17.8
12.3
4.00
3.80
e9/l
0.19
35
267
11
40
3.10
2.42
3.2
5.2
75.27
77.16
e9/l
—
6
32
9
29
3.43
2.33
1.7
1.2
—
—
—
0
0
9
29
3.43
2.33
1.8
1.2
—
—
—
0
0
38
257
2.15
2.32
10.9
8.0
2.31
2.85
%
1.15
38
241
25
144
2.20
2.29
9.2
2.9
0.16
0.30
e6/l
0.42
15
106
38
258
2.14
2.29
10.9
8.3
8.56
8.34
%
0.20
38
244
30
186
2.14
2.28
2.3
1.7
—
—
—
0
0
5
9
5.91
2.25
1.8
5.8
—
—
—
0
0
46
340
2.21
2.18
8.0
4.0
—
—
—
0
0
28
173
2.09
2.12
2.7
1.9
97.14
101.62
pmol/l
0.16
13
78
5
10
5.31
2.11
1.8
6.4
—
—
—
0
0
25
150
2.08
2.03
9.2
2.9
—
—
—
0
0
38
267
2.02
1.99
10.9
8.0
28.30
30.45
%
0.46
38
252
43
319
2.03
1.90
8.4
4.1
—
29.71
—
0
7
16
82
2.26
1.90
6.2
2.5
2.47
2.45
mmol/l
0.33
11
69
8
29
3.00
1.86
2.8
4.8
—
—
—
0
0
14
70
2.27
1.75
1.1
1.5
—
429.47
—
0
19
34
242
1.85
1.61
15.7
11.5
0.01
0.00
e9/l
0.48
24
195
9
37
2.66
1.55
1.3
1.5
—
—
—
0
0
25
163
1.87
1.54
9.4
2.9
25.96
19.76
e6/l
0.20
16
128
19
115
1.92
1.45
1.8
1.6
1.74
2.30
g/l
1.37
14
68
5
17
3.10
1.38
1.6
1.3
1.12
1.11
g/l
—
5
17
9
43
2.27
1.37
20.2
13.4
24.21
24.45
mmol/l
—
9
43
11
55
2.20
1.37
1.4
1.1
—
—
—
0
0
27
187
1.76
1.34
11.4
3.5
19.21
21.14
e6/l
0.07
16
134
33
247
1.68
1.22
8.4
4.9
0.00
0.00
estimate
—
6
45
5
20
2.62
1.17
1.0
1.0
35.38
39.18
g/l
—
5
20
5
22
2.37
1.05
1.6
12.1
0.44
0.69
%
—
5
22
20
140
1.62
0.91
5.1
2.6
—
—
—
0
0
6
30
2.10
0.89
1.2
2.2
—
—
—
0
0
17
116
1.63
0.85
2.0
1.6
20.71
23.98
nmol/l
0.51
17
105
32
254
1.51
0.84
6.3
3.3
0.00
0.00
estimate
—
6
47
16
109
1.62
0.81
3.0
2.1
—
—
—
0
0
9
54
1.77
0.79
1.7
1.9
—
—
—
0
0
5
90
0.52
0.73
2.2
1.8
—
—
—
0
0
5
27
1.92
0.70
4.4
12.7
135.00
125.37
g/l
—
5
27
5
28
1.85
0.67
1.0
1.0
—
—
—
0
0
5
30
1.72
0.62
24.8
6.3
—
—
—
0
0
6
34
1.84
0.60
2.3
2.4
—
—
—
0
0
0
22
0.00
0.60
0.0
1.6
—
345.28
—
0
10
9
125
0.68
0.49
2.7
3.5
—
—
—
0
0
5
31
1.66
0.44
1.2
1.3
—
—
—
0
0
20
162
1.34
0.42
1.5
1.6
—
—
—
0
0
5
33
1.56
0.42
1.2
1.2
—
—
—
0
0
0
16
0.00
0.41
0.0
1.2
—
0.26
—
0
10
13
98
1.41
0.41
1.5
1.6
—
—
—
0
0
5
34
1.51
0.41
1.2
1.2
—
—
—
0
0
5
34
1.51
0.41
1.2
1.2
—
—
—
0
0
5
34
1.51
0.41
1.2
1.2
—
—
—
0
0
0
18
0.00
0.40
0.0
1.2
—
—
—
0
0
0
18
0.00
0.40
0.0
1.2
—
—
—
0
0
5
35
1.46
0.40
13.2
3.2
—
—
—
0
0
10
72
1.46
0.39
1.3
1.5
—
—
—
0
0
16
129
1.32
0.34
6.1
3.2
0.00
0.00
estimate
—
5
44
9
75
1.23
0.26
2.2
1.7
—
—
—
0
0
23
202
1.21
0.25
2.2
2.4
—
—
—
0
0
5
40
1.27
0.23
1.2
1.3
—
—
—
0
0
0
10
0.00
0.21
0.0
2.4
—
—
—
0
0
0
10
0.00
0.21
0.0
1.0
—
—
—
0
0
0
12
0.00
0.21
0.0
5.0
—
—
—
0
0
0
12
0.00
0.21
0.0
1.1
—
—
—
0
0
0
14
0.00
0.20
0.0
1.2
—
—
—
0
0
7
64
1.10
0.08
2.3
2.0
—
—
—
0
0
17
164
1.05
0.00
3.8
3.4
18.01
38.87
ng/l
—
9
96
15
145
1.04
0.00
6.3
3.1
—
—
—
0
0
0
6
0.00
0.00
0.0
1.2
—
—
—
0
0
0
6
0.00
0.00
0.0
2.3
—
1.21
—
0
6
0
5
0.00
-0.00
0.0
2.8
—
108.20
—
0
5
0
5
0.00
-0.00
0.0
1.0
—
149.53
—
0
5
5
51
0.98
-0.00
1.2
1.3
—
—
—
0
0
0
8
0.00
-0.00
0.0
3.1
—
—
—
0
0
0
9
0.00
-0.00
0.0
4.6
—
4.17
—
0
9
9
91
0.99
-0.00
1.2
1.8
437.26
510.89
pmol/l
—
9
84
0
7
0.00
-0.00
0.0
2.9
—
5.73
—
0
7
0
5
0.00
-0.00
0.0
2.8
—
3.92
—
0
5
0
5
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
9
0.00
-0.00
0.0
1.3
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.2
—
—
—
0
0
0
5
0.00
-0.00
0.0
2.8
—
—
—
0
0
0
9
0.00
-0.00
0.0
1.1
—
—
—
0
0

Mortality – FinRegistry

Association

Association between endpoint Q17_OTHER_CONGEN_MALFO_RESPI_SYSTEM and mortality.

Females

No data

Males

No data

Mortality risk

Mortality risk for people of age

years, who have Q17_OTHER_CONGEN_MALFO_RESPI_SYSTEM.

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_OTHER_CONGEN_MALFO_RESPI_SYSTEM – Other congenital malformations of respiratory system

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
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