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Congenital malformations of nose, including avohilmo

Endpoint Browser PheWeb

Q17_CONGEN_MALFO_NOSE_WIDE

Endpoint definition

↥

Report an error or suggest an improvement for this endpoint codes

Endpoint definition steps

FinnGen

Phenotype data

557745

1. Apply sex-specific rule

None

557745

2. Check conditions

None

557745

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

Registry filters:

  • Primary healthcare outpatient: ICD-10 — Q30
  • Hospital discharge: ICD-10 — Q30
  • Cause of death: ICD-10 — Q30

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

100

4. Check minimum number of events

None

100

5. Include endpoints

None

100

6. Filter based on genotype QC (FinnGen only)

89

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 nasi

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 89 59 30
Unadjusted period prevalence (%) 0.02 0.02 0.01
Median age at first event (years) 42.40 44.05 39.16

-FinnGen-

Age distribution of first events

-FinnGen-

Year distribution of first events

-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
94
Matched controls
940
Code
Vocabulary
Description
Odds Ratio
-log10(p)
N matched cases
N matched controls
Q30.8
ICD-10 Finland
Other congenital malformations of nose
+∞
44.3
39
*
Q30.9
ICD-10 Finland
Congenital malformation of nose, unspecified
+∞
18.3
17
*
Q30.3
ICD-10 Finland
Congenital perforated nasal septum
+∞
16.1
15
*
DLD00
NOMESCO Finland
Reconstruction of cartilage of nose
+∞
15.0
14
*
Q30.0
ICD-10 Finland
Choanal atresia
+∞
12.8
12
*
J34.2
ICD-10 Finland
Deviated nasal septum
10.4
12.0
24
30
DLD20
NOMESCO Finland
Rhinoplasty
74.5
11.9
13
*
J34.8
ICD-10 Finland
Other specified disorders of nose and nasal sinuses
25.1
11.1
15
7
Q30.2
ICD-10 Finland
Fissured, notched and cleft nose
+∞
9.5
9
*
DLD10
NOMESCO Finland
Reconstruction of cartilage and bone of nose
+∞
8.5
8
*
DJD20
NOMESCO Finland
Plastic repair of septum of nose
10.7
7.6
14
15
ZZG00
NOMESCO Finland
Graft of cartilage
+∞
7.4
7
*
M95.0
ICD-10 Finland
Acquired deformity of nose
43.3
6.9
8
*
DJD10
NOMESCO Finland
Closure of perforation of septum of nose
+∞
6.3
6
*
UDH02
NOMESCO Finland
Rhinopharyngoscopy
5.7
6.1
17
35

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
31
174
2.17
2.89
2.5
2.0
2.18
2.71
mg/l
1.09
26
157
51
348
2.02
2.80
13.0
8.9
1.22
1.22
mmol/l
0.04
42
309
20
94
2.43
2.80
1.7
1.3
—
—
—
0
0
57
414
1.96
2.53
3.4
3.3
76.68
83.46
ug/l
0.25
57
395
28
164
2.01
2.28
1.9
2.3
0.66
1.12
mg/l
0.58
22
129
37
239
1.90
2.28
2.9
2.4
—
—
—
0
0
7
19
3.89
2.19
2.0
1.2
—
—
—
0
0
16
76
2.33
2.17
1.3
1.5
—
—
—
0
0
23
130
2.02
2.05
2.7
3.0
920.69
209.06
ng/l
0.37
13
77
33
213
1.85
2.00
3.1
3.5
7.41
7.40
ph
0.73
20
155
5
11
4.73
1.96
3.8
6.5
310.80
131.00
e6/l
—
5
6
19
104
2.04
1.84
1.2
1.6
409.33
506.90
pmol/l
0.77
12
93
41
292
1.72
1.75
2.2
2.0
102.13
93.71
pmol/l
0.62
25
155
42
310
1.64
1.52
2.0
1.8
—
—
—
0
0
11
53
2.22
1.45
13.6
22.0
25.42
25.14
mmol/l
0.16
11
53
30
208
1.65
1.36
3.3
2.4
—
—
—
0
0
11
55
2.13
1.33
1.1
1.2
—
—
—
0
0
68
578
1.64
1.30
9.7
8.1
78.90
78.67
u/l
0.02
63
550
11
56
2.09
1.28
1.1
1.1
—
—
—
0
0
35
256
1.59
1.28
7.5
8.6
—
—
—
0
0
17
103
1.79
1.23
2.5
1.7
—
—
—
0
0
8
38
2.21
1.22
1.6
1.5
—
—
—
0
0
24
164
1.62
1.14
6.0
4.2
—
—
—
0
0
36
272
1.52
1.12
17.6
8.5
1.21
1.12
inr
0.42
28
222
8
41
2.04
1.12
2.3
17.2
24.75
24.04
mmol/l
—
8
41
5
21
2.46
1.10
2.8
1.9
—
—
—
0
0
10
170
0.54
1.03
1.5
1.4
1.18
6.48
u/ml
—
5
68
7
35
2.08
1.02
6.3
9.7
—
—
—
0
0
7
36
2.02
0.99
1.0
1.1
—
—
—
0
0
10
56
1.88
0.92
1.4
1.3
—
—
—
0
0
6
30
2.07
0.88
2.8
1.4
35.00
37.13
nmol/l
—
6
30
11
65
1.78
0.86
18.5
11.9
—
—
—
0
0
28
212
1.46
0.84
2.6
2.8
—
—
—
0
0
32
251
1.42
0.79
1.4
1.5
—
—
—
0
0
15
100
1.59
0.79
1.6
1.5
—
—
—
0
0
10
61
1.72
0.72
1.4
1.4
—
—
—
0
0
17
121
1.49
0.68
2.4
2.7
2.49
2.43
mmol/l
0.39
17
112
10
63
1.66
0.64
1.4
1.4
—
—
—
0
0
10
64
1.63
0.61
8.3
12.5
7.38
7.39
ph
—
5
43
10
64
1.63
0.61
1.4
1.4
—
—
—
0
0
14
192
0.68
0.60
1.3
1.4
181.74
20.08
iu/ml
—
5
60
54
478
1.30
0.57
8.8
11.6
3.59
3.94
e9/l
0.82
49
411
25
199
1.35
0.56
4.6
5.8
—
—
—
0
0
9
62
1.50
0.55
2.1
12.0
5.36
5.22
kpa
—
9
62
10
66
1.58
0.55
8.3
12.2
1.34
1.95
mmol/l
—
10
53
6
39
1.57
0.54
4.2
1.1
—
—
—
0
0
43
372
1.29
0.53
3.6
2.7
—
—
estimate
—
0
0
9
64
1.45
0.53
1.3
1.4
—
—
—
0
0
9
64
1.45
0.53
1.2
1.4
—
—
—
0
0
6
40
1.53
0.52
28.5
13.0
25.17
24.59
mmol/l
—
6
40
7
109
0.61
0.52
1.1
1.3
—
—
—
0
0
7
45
1.60
0.50
1.7
3.1
8.74
5.38
ug/l
—
7
40
30
251
1.29
0.47
5.6
3.5
9.74
20.67
e6/l
0.97
22
192
13
95
1.43
0.46
13.3
9.6
1.09
1.09
mmol/l
0.00
13
87
8
56
1.47
0.44
7.9
2.8
4.61
4.62
pmol/l
—
8
51
30
254
1.27
0.43
3.0
6.9
—
—
—
0
0
34
293
1.25
0.42
6.0
4.5
11.07
31.25
e6/l
0.65
24
199
5
33
1.54
0.42
1.4
1.4
—
—
—
0
0
5
33
1.54
0.42
1.2
15.4
2.28
1.42
%
—
5
33
0
16
0.00
0.41
0.0
1.1
—
—
—
0
0
0
17
0.00
0.41
0.0
1.5
—
—
—
0
0
0
17
0.00
0.41
0.0
1.5
—
—
—
0
0
0
17
0.00
0.41
0.0
1.5
—
—
—
0
0
0
17
0.00
0.41
0.0
1.5
—
—
—
0
0
0
18
0.00
0.40
0.0
2.9
—
134.00
—
0
13
9
68
1.36
0.39
1.0
2.2
32.43
23.31
iu/l
—
9
57
24
200
1.27
0.39
3.9
3.3
1.02
1.02
kg/l
0.06
15
119
28
238
1.25
0.39
2.4
2.0
—
—
—
0
0
89
904
0.71
0.39
24.8
19.8
135.69
136.79
g/l
0.27
89
894
39
345
1.22
0.38
3.9
3.4
6.18
6.16
ph
0.06
19
177
6
42
1.46
0.36
28.7
14.7
95.63
93.58
%
—
6
42
6
44
1.39
0.35
28.7
13.9
0.53
0.68
%
—
6
44
6
44
1.39
0.35
27.7
14.0
0.95
1.41
%
—
6
44
6
45
1.36
0.34
2.5
1.5
—
—
—
0
0
59
548
1.21
0.33
6.2
4.5
—
—
—
0
0
26
223
1.23
0.33
3.8
3.4
0.12
0.34
e6/l
1.14
17
161
7
51
1.40
0.32
1.3
1.4
—
—
—
0
0
5
70
0.70
0.27
2.2
1.7
—
0.25
estimate
—
0
12
9
72
1.28
0.26
20.0
10.7
2.04
1.19
mmol/l
—
9
64
17
143
1.23
0.25
1.6
1.8
—
—
—
0
0
13
106
1.26
0.25
2.1
2.0
—
—
—
0
0
89
903
0.73
0.24
26.4
20.4
40.66
40.88
%
0.18
89
893
89
903
0.73
0.24
24.3
19.4
90.03
90.02
fl
0.01
89
894
89
903
0.73
0.24
24.4
19.3
30.08
30.08
pg
0.01
89
894
27
240
1.18
0.24
3.4
2.7
0.00
0.00
estimate
—
6
69
38
348
1.15
0.23
1.7
1.8
1.35
1.42
mmol/l
0.29
33
309
23
203
1.18
0.22
5.3
3.2
13.46
48.98
mg/l
1.39
12
130
0
11
0.00
0.21
0.0
2.3
—
6.17
—
0
11
0
11
0.00
0.21
0.0
1.3
—
—
—
0
0
0
11
0.00
0.21
0.0
1.3
—
—
—
0
0
0
11
0.00
0.21
0.0
4.5
—
2.30
—
0
11
0
10
0.00
0.21
0.0
9.5
—
—
—
0
0
0
10
0.00
0.21
0.0
5.3
—
—
—
0
0
0
10
0.00
0.21
0.0
1.2
—
—
—
0
0
0
12
0.00
0.21
0.0
1.3
—
—
—
0
0
0
13
0.00
0.21
0.0
6.8
—
—
—
0
0
35
321
1.14
0.20
4.3
3.2
0.00
0.00
estimate
—
5
70
0
14
0.00
0.20
0.0
1.3
—
2543.67
—
0
6
6
52
1.16
0.19
1.3
1.4
—
—
—
0
0
46
432
1.13
0.18
4.5
3.8
0.00
0.00
estimate
—
7
75
45
426
1.11
0.15
4.4
3.7
0.00
0.00
estimate
—
7
78
8
98
0.80
0.14
1.4
1.2
—
—
—
0
0
10
86
1.18
0.11
1.6
1.4
—
—
—
0
0
45
431
1.08
0.10
4.4
3.7
0.00
0.00
estimate
—
7
78
22
205
1.10
0.09
5.9
3.6
3.19
5.82
mg/mmol
0.57
12
129
33
346
0.93
0.08
3.0
2.6
—
—
—
0
0
23
216
1.09
0.07
3.7
3.3
—
—
estimate
—
0
0
8
91
0.87
0.07
2.3
1.7
—
—
—
0
0
9
100
0.89
0.06
1.1
1.1
—
—
—
0
0
10
90
1.12
0.06
1.5
1.5
—
—
—
0
0
43
417
1.06
0.05
9.2
6.2
6.68
6.39
mmol/l
0.29
43
384
79
779
1.09
0.05
5.1
5.0
3.00
2.84
mmol/l
0.76
74
743
80
809
0.93
0.04
19.2
13.3
27.47
20.14
mg/l
0.77
71
611
78
771
1.07
0.03
4.6
4.4
1.44
1.49
mmol/l
0.46
73
733
22
229
0.95
0.03
2.3
1.6
1.61
2.22
g/l
1.44
15
137
14
148
0.94
0.02
1.8
1.6
—
—
—
0
0
19
198
0.95
0.02
1.9
1.7
—
—
—
0
0
24
248
0.96
0.02
1.3
1.5
0.82
1.52
u/ml
—
5
62
20
207
0.96
0.01
4.5
4.0
—
—
—
0
0
10
94
1.07
0.01
17.7
10.7
103.30
105.06
mmol/l
—
10
94
75
756
0.96
0.00
5.5
4.1
5.80
5.76
mmol/l
0.08
70
708
72
723
0.98
0.00
5.3
4.9
38.29
37.86
mmol/mol
0.15
65
693
14
135
1.04
0.00
1.8
1.5
—
—
—
0
0
25
246
1.02
0.00
3.1
2.8
12.94
22.40
ng/l
1.14
13
131
0
9
0.00
-0.00
0.0
1.1
—
—
—
0
0
0
8
0.00
-0.00
0.0
20.3
—
926.25
—
0
8
0
6
0.00
-0.00
0.0
1.2
—
—
—
0
0
22
220
1.00
-0.00
6.4
3.8
0.00
0.00
estimate
—
5
76
0
9
0.00
-0.00
0.0
20.8
—
1837.44
—
0
9
85
851
0.99
-0.00
13.6
10.1
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.0
—
98.08
—
0
5
0
5
0.00
-0.00
0.0
1.0
—
1.61
—
0
5
6
59
1.02
-0.00
9.2
3.4
—
—
—
0
0
0
6
0.00
-0.00
0.0
2.3
—
108.67
—
0
6
5
59
0.84
-0.00
1.0
1.4
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.6
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.0
—
2092.40
—
0
5
0
8
0.00
-0.00
0.0
1.3
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.4
—
—
—
0
0
38
380
1.00
-0.00
9.7
10.6
0.00
0.00
e9/l
0.50
32
302
5
55
0.90
-0.00
1.0
1.1
—
—
—
0
0
0
7
0.00
-0.00
0.0
1.4
—
—
—
0
0
0
5
0.00
-0.00
0.0
3.8
—
1.34
—
0
5
0
6
0.00
-0.00
0.0
2.3
—
1.21
—
0
6
0
6
0.00
-0.00
0.0
2.3
—
4.07
—
0
6
0
5
0.00
-0.00
0.0
2.6
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.2
—
5.70
—
0
5
0
5
0.00
-0.00
0.0
2.2
—
75.00
—
0
5
0
5
0.00
-0.00
0.0
1.0
—
199.60
—
0
5
0
5
0.00
-0.00
0.0
1.0
—
49.50
—
0
5
0
8
0.00
-0.00
0.0
2.8
—
0.48
—
0
8
0
6
0.00
-0.00
0.0
1.7
—
25.17
—
0
6
0
7
0.00
-0.00
0.0
9.1
—
—
—
0
0
0
6
0.00
-0.00
0.0
2.5
—
—
—
0
0

Mortality – FinRegistry

↥

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

Relationships between endpoints

↥

Index endpoint: Q17_CONGEN_MALFO_NOSE_WIDE – Congenital malformations of nose, including avohilmo

GWS hits: -

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