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

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 Q34
  • Cause of death: ICD-10 Q34

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

60

4. Check minimum number of events

None

60

5. Include endpoints

None

60

6. Filter based on genotype QC (FinnGen only)

60

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 60 35 25
Unadjusted period prevalence (%) 0.01 0.01 0.01
Median age at first event (years) 42.70 43.79 41.17

-FinRegistry-

Age distribution of first events

010203040506070800102030405060708090100110120AgeIndividuals

-FinnGen-

Age distribution of first events

0103040506001234567891011121314AgeIndividuals

-FinRegistry-

Year distribution of first events

1970197519801985199019952000200520102015202020220102030405060708090YearIndividuals

-FinnGen-

Year distribution of first events

1970197519801985199019952000200520102015202020230246810121416YearIndividuals

-FinRegistry-

Cumulative Incidence Function

No data

-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
55
Matched controls
548
Code
Vocabulary
Description
Odds Ratio
-log10(p)
N matched cases
N matched controls
Q34.1
ICD-10 Finland
Congenital cyst of mediastinum
+∞
46.6
38
*
UGC12
NOMESCO Finland
Flexible bronchoscopy
10.4
7.7
15
19
Q34.0
ICD-10 Finland
Anomaly of pleura
+∞
7.4
7
*
R4110
NOMESCO Finland
Physiotherapy
5.4
7.4
26
78
R91
ICD-10 Finland
Abnormal findings on diagnostic imaging of lung
7.3
6.6
16
29
GEB30
NOMESCO Finland
Mediastinotomy and excision of lesion
78.6
6.6
7
*
D38.3
ICD-10 Finland
Neoplasm of uncertain or unknown behaviour: Mediastinum
78.6
6.6
7
*
R05
ICD-10 Finland
Cough
4.9
6.3
23
70

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
16
44
4.60
5.65
10.5
5.9
—
—
—
0
0
30
144
3.17
4.58
7.7
6.3
1.17
1.12
inr
—
8
36
16
52
3.83
4.48
1.1
1.5
—
—
—
0
0
18
64
3.59
4.43
1.1
2.3
—
—
—
0
0
16
56
3.53
4.00
1.3
1.2
—
—
—
0
0
24
111
2.94
3.78
6.4
4.2
—
—
—
0
0
47
317
3.23
3.58
3.5
3.1
—
—
—
0
0
14
49
3.42
3.47
5.6
9.2
—
—
—
0
0
9
21
4.85
3.14
9.3
7.5
94.41
94.03
%
—
9
21
13
47
3.25
3.04
1.2
1.0
—
—
—
0
0
9
22
4.62
3.02
9.0
7.3
0.58
0.74
%
—
9
22
9
22
4.62
3.02
9.3
7.3
0.80
1.37
%
—
9
22
17
75
2.77
2.83
3.6
3.8
18.50
84.66
ng/l
0.86
12
50
24
127
2.48
2.79
18.3
9.4
—
—
—
0
0
6
10
6.52
2.77
2.7
2.7
—
—
—
0
0
9
25
4.05
2.70
1.8
1.2
—
—
—
0
0
9
25
4.05
2.70
7.9
4.1
29.26
103.05
u/ml
—
9
25
22
115
2.44
2.60
4.0
3.7
7.15
11.56
mg/mmol
0.38
15
77
27
155
2.35
2.59
5.3
3.9
2.32
2.37
mmol/l
0.87
22
137
22
116
2.42
2.54
3.9
2.9
—
—
—
0
0
37
246
2.31
2.49
9.8
8.4
0.04
0.04
e9/l
0.14
32
215
16
73
2.63
2.48
3.6
2.3
15.44
14.89
umol/l
0.07
16
67
37
247
2.30
2.46
9.8
8.3
0.52
0.58
e9/l
0.91
32
217
24
138
2.23
2.24
3.8
2.3
—
—
—
0
0
14
64
2.55
2.14
4.0
2.3
2.23
2.54
g/l
1.20
14
58
28
174
2.14
2.14
10.9
8.7
—
—
—
0
0
28
177
2.09
2.02
2.3
1.8
—
—
—
0
0
8
27
3.26
2.02
1.6
1.2
—
—
—
0
0
6
16
4.04
1.99
2.0
4.5
—
—
—
0
0
13
60
2.49
1.94
4.2
2.3
30.18
23.79
%
0.43
13
51
22
129
2.11
1.91
9.9
2.9
0.03
0.23
e6/l
3.04
13
93
21
122
2.11
1.86
7.3
3.6
7.37
7.41
ph
—
5
18
22
134
2.01
1.71
9.9
2.9
—
—
—
0
0
24
151
1.98
1.70
2.5
2.0
99.23
103.31
pmol/l
0.13
12
67
33
232
1.94
1.69
11.0
8.2
0.61
0.68
%
0.30
33
219
39
291
1.97
1.67
18.5
12.6
4.01
3.76
e9/l
0.23
33
250
41
313
1.98
1.62
8.4
4.2
—
—
—
0
0
7
27
2.80
1.57
1.9
5.0
—
—
—
0
0
10
45
2.47
1.56
1.9
1.4
—
—
—
0
0
33
237
1.87
1.55
11.1
8.4
2.18
2.85
%
1.62
33
222
31
219
1.86
1.52
15.8
10.8
0.01
0.00
e9/l
0.48
24
178
33
238
1.86
1.52
11.1
8.7
8.58
8.47
%
0.08
33
226
38
291
1.83
1.40
9.0
4.1
—
34.17
—
0
6
26
180
1.78
1.32
4.6
3.1
—
—
—
0
0
8
36
2.41
1.30
1.4
1.5
—
—
—
0
0
33
247
1.75
1.27
11.1
8.3
28.47
30.96
%
0.50
33
232
8
38
2.27
1.24
22.5
14.5
24.36
24.53
mmol/l
—
8
38
22
148
1.77
1.21
10.1
2.9
26.45
20.69
e6/l
0.16
14
115
24
168
1.71
1.15
12.2
3.5
16.45
20.50
e6/l
0.15
14
119
10
52
2.11
1.14
1.3
1.1
—
—
—
0
0
17
108
1.80
1.12
1.9
1.6
1.63
2.19
g/l
1.35
12
64
30
228
1.63
1.03
8.7
4.8
0.00
0.00
estimate
—
6
39
6
30
2.11
0.90
4.3
2.6
—
—
—
0
0
6
30
2.11
0.90
2.3
2.6
—
—
—
0
0
8
46
1.85
0.86
18.6
16.5
—
1.39
—
0
9
7
39
1.90
0.75
2.9
3.6
50.07
14.48
ug/l
—
7
30
10
62
1.74
0.70
1.0
1.6
—
385.88
—
0
17
5
27
1.93
0.70
1.0
1.0
—
—
—
0
0
5
28
1.86
0.68
1.2
1.3
—
—
—
0
0
29
235
1.45
0.67
6.6
3.2
0.00
0.00
estimate
—
6
40
5
29
1.79
0.65
24.8
6.4
—
—
—
0
0
5
29
1.79
0.65
1.2
1.2
—
—
—
0
0
5
30
1.73
0.63
1.2
1.2
—
—
—
0
0
5
30
1.73
0.63
13.2
2.9
—
—
—
0
0
5
30
1.73
0.63
1.2
1.2
—
—
—
0
0
5
30
1.73
0.63
1.2
1.2
—
—
—
0
0
0
20
0.00
0.61
0.0
1.7
—
345.28
—
0
10
14
99
1.54
0.61
3.2
2.1
—
—
—
0
0
17
126
1.49
0.60
5.5
2.6
—
—
—
0
0
8
54
1.55
0.60
1.8
1.9
—
—
—
0
0
14
101
1.50
0.56
2.1
1.7
21.32
24.58
nmol/l
0.41
14
92
9
63
1.50
0.55
1.3
1.5
—
—
—
0
0
15
111
1.47
0.53
6.3
5.7
—
—
—
0
0
5
82
0.57
0.50
2.2
1.8
—
—
—
0
0
15
116
1.39
0.42
6.5
3.1
0.00
0.00
estimate
—
5
38
12
89
1.44
0.42
1.6
1.6
—
—
—
0
0
0
15
0.00
0.42
0.0
1.2
—
9.37
—
0
5
0
16
0.00
0.41
0.0
1.2
—
—
—
0
0
0
16
0.00
0.41
0.0
1.2
—
—
—
0
0
5
35
1.47
0.40
1.2
1.3
—
—
—
0
0
9
115
0.74
0.31
2.7
3.4
—
—
—
0
0
9
76
1.22
0.26
1.2
1.7
437.26
516.34
pmol/l
—
9
70
21
185
1.21
0.22
2.3
2.2
—
—
—
0
0
0
11
0.00
0.21
0.0
1.3
—
—
—
0
0
0
11
0.00
0.21
0.0
5.2
—
—
—
0
0
0
10
0.00
0.21
0.0
1.0
—
—
—
0
0
0
12
0.00
0.21
0.0
1.1
—
—
—
0
0
8
72
1.13
0.17
2.4
1.6
—
—
—
0
0
17
153
1.16
0.13
1.5
1.5
—
—
—
0
0
12
133
0.88
0.08
7.7
2.9
—
—
—
0
0
16
149
1.10
0.06
3.9
3.0
18.01
41.78
ng/l
—
9
86
0
5
0.00
0.00
0.0
2.8
—
—
—
0
0
6
59
1.02
0.00
2.5
1.9
—
—
—
0
0
0
8
0.00
0.00
0.0
3.1
—
—
—
0
0
0
7
0.00
0.00
0.0
1.0
—
—
—
0
0
0
5
0.00
0.00
0.0
2.8
—
3.92
—
0
5
0
5
0.00
0.00
0.0
2.8
—
108.20
—
0
5
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
7
0.00
0.00
0.0
2.9
—
5.73
—
0
7
0
6
0.00
0.00
0.0
2.3
—
1.21
—
0
6
0
6
0.00
0.00
0.0
1.7
—
—
—
0
0
0
9
0.00
-0.00
0.0
1.3
—
—
—
0
0
0
9
0.00
-0.00
0.0
2.6
—
—
—
0
0
0
9
0.00
-0.00
0.0
1.1
—
—
—
0
0
0
9
0.00
-0.00
0.0
4.6
—
4.17
—
0
9

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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