Congenital malformations of nose

Q17_CONGEN_MALFO_NOSE

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 Q30
  • Cause of death: ICD-10 Q30

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

59

4. Check minimum number of events

None

59

5. Include endpoints

None

59

6. Filter based on genotype QC (FinnGen only)

59

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 nasi

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 653 364 284
Only index persons 530 302 228
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 22.66 24.80 19.44
Only index persons 28.41 31.22 24.69

-FinnGen-

Key figures

All Female Male
Number of individuals 59 39 20
Unadjusted period prevalence (%) 0.01 0.01 0.01
Median age at first event (years) 36.05 40.04 28.28

-FinRegistry-

Age distribution of first events

0102030405060708090020406080100120140160180200220240AgeIndividuals

-FinnGen-

Age distribution of first events

0103040500246810121416AgeIndividuals

-FinRegistry-

Year distribution of first events

197019751980198519901995200020052010201520202022020406080100120140YearIndividuals

-FinnGen-

Year distribution of first events

19701975198019851990199520002005201020152023024681012141618YearIndividuals

-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
54
Matched controls
539
Code
Vocabulary
Description
Odds Ratio
-log10(p)
N matched cases
N matched controls
Q30.8
ICD-10 Finland
Other congenital malformations of nose
+∞
23.7
21
*
DLD00
NOMESCO Finland
Reconstruction of cartilage of nose
+∞
14.2
13
*
Q30.9
ICD-10 Finland
Congenital malformation of nose, unspecified
+∞
14.2
13
*
DLD20
NOMESCO Finland
Rhinoplasty
+∞
10.8
10
*
Q30.0
ICD-10 Finland
Choanal atresia
+∞
10.8
10
*
J34.2
ICD-10 Finland
Deviated nasal septum
18.3
9.3
14
10
DLD10
NOMESCO Finland
Reconstruction of cartilage and bone of nose
+∞
7.5
7
*
J34.8
ICD-10 Finland
Other specified disorders of nose and nasal sinuses
78.8
6.6
7
*
Q30.3
ICD-10 Finland
Congenital perforated nasal septum
+∞
6.4
6
*
ZZG00
NOMESCO Finland
Graft of cartilage
+∞
6.4
6
*
UDH02
NOMESCO Finland
Rhinopharyngoscopy
13.3
6.1
10
9

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
50
3.36
3.36
1.9
1.4
—
—
—
0
0
11
42
2.99
2.34
1.3
1.3
—
—
—
0
0
25
164
1.91
1.56
6.6
8.1
—
—
—
0
0
12
60
2.26
1.51
2.7
2.0
—
—
—
0
0
6
24
2.66
1.34
5.7
11.0
—
—
—
0
0
5
18
2.94
1.31
6.0
23.6
1.11
1.12
mg/l
—
5
18
8
36
2.41
1.30
6.0
5.5
1.93
1.66
%
—
8
36
5
19
2.78
1.24
1.6
1.5
—
—
—
0
0
29
211
1.74
1.23
16.6
7.3
1.21
1.21
mmol/l
0.05
24
179
18
115
1.81
1.17
3.6
2.6
—
—
—
0
0
7
30
2.51
1.17
18.3
4.4
—
—
—
0
0
15
95
1.78
0.99
6.0
2.5
12.24
22.54
mg/l
—
8
52
25
184
1.62
0.97
2.1
1.7
—
—
—
0
0
20
139
1.66
0.96
3.5
2.4
—
—
—
0
0
13
82
1.75
0.87
1.3
1.5
22.42
19.40
nmol/l
0.38
13
72
18
125
1.63
0.86
3.8
3.6
0.03
0.51
e6/l
2.16
12
93
0
24
0.00
0.81
0.0
1.7
—
—
—
0
0
5
25
2.09
0.74
2.2
4.6
10.20
69.55
u/ml
—
5
25
15
104
1.59
0.71
6.7
3.2
2.95
3.87
mg/mmol
—
8
57
5
27
1.93
0.70
1.0
1.3
—
—
—
0
0
5
27
1.93
0.70
2.8
10.9
26.00
24.30
mmol/l
—
5
27
11
72
1.65
0.64
3.1
3.0
2255.80
217.82
ng/l
—
5
45
8
123
0.60
0.63
6.4
4.0
—
—
—
0
0
8
121
0.61
0.63
5.6
2.8
—
—
—
0
0
14
189
0.66
0.61
5.2
3.4
—
—
—
0
0
0
21
0.00
0.61
0.0
1.2
—
—
—
0
0
6
37
1.69
0.57
15.2
14.8
26.27
25.28
mmol/l
—
6
37
10
66
1.62
0.57
2.1
2.1
—
—
—
0
0
6
38
1.64
0.56
24.0
12.4
—
—
—
0
0
46
496
0.67
0.51
18.2
12.6
25.00
20.57
mg/l
0.33
40
358
13
95
1.47
0.49
7.1
4.8
—
—
—
0
0
18
141
1.40
0.48
3.0
8.7
—
—
—
0
0
49
453
1.48
0.46
4.3
3.9
5.74
5.74
mmol/l
0.01
43
423
14
179
0.71
0.44
2.9
2.4
—
—
—
0
0
17
134
1.38
0.43
6.9
3.6
8.38
26.62
e6/l
0.92
12
106
16
125
1.38
0.43
4.0
3.6
—
—
—
0
0
8
60
1.38
0.42
2.0
1.5
—
—
—
0
0
0
15
0.00
0.42
0.0
1.4
—
—
—
0
0
0
15
0.00
0.42
0.0
1.4
—
—
—
0
0
0
15
0.00
0.42
0.0
1.1
—
—
—
0
0
38
416
0.76
0.39
5.3
4.4
39.91
38.31
mmol/mol
0.39
32
394
6
41
1.51
0.37
1.7
1.4
—
—
—
0
0
10
74
1.42
0.35
1.8
3.1
2.45
2.43
mmol/l
—
10
65
23
196
1.28
0.34
3.1
3.0
86.53
93.68
ug/l
0.13
23
186
7
56
1.28
0.31
1.7
1.6
—
—
—
0
0
17
144
1.25
0.26
1.9
1.8
90.44
92.01
pmol/l
—
8
71
14
116
1.27
0.25
3.9
7.1
—
—
—
0
0
22
248
0.82
0.24
12.8
5.5
6.69
6.47
mmol/l
0.11
22
229
5
42
1.21
0.22
1.4
1.6
—
—
—
0
0
0
10
0.00
0.21
0.0
8.1
—
—
—
0
0
0
12
0.00
0.21
0.0
1.2
—
—
—
0
0
0
12
0.00
0.21
0.0
1.2
—
—
—
0
0
0
12
0.00
0.21
0.0
1.2
—
—
—
0
0
6
47
1.31
0.21
1.0
1.6
—
—
—
0
0
6
48
1.28
0.21
12.7
7.2
—
—
—
0
0
0
13
0.00
0.21
0.0
1.1
—
—
—
0
0
0
13
0.00
0.21
0.0
1.3
—
—
—
0
0
0
13
0.00
0.21
0.0
1.2
—
—
—
0
0
0
13
0.00
0.21
0.0
1.1
—
—
—
0
0
6
49
1.25
0.21
12.7
7.2
2.23
2.42
mmol/l
—
6
39
13
110
1.23
0.19
2.7
1.8
—
—
—
0
0
8
68
1.20
0.17
2.1
1.5
—
—
—
0
0
52
503
1.28
0.16
16.5
13.5
71.98
69.46
umol/l
0.42
52
503
30
321
0.87
0.16
7.1
4.2
—
—
—
0
0
47
454
1.17
0.12
4.1
3.9
1.50
1.52
mmol/l
0.06
39
425
12
105
1.18
0.12
1.8
2.3
0.81
0.78
mg/l
—
7
79
5
44
1.15
0.10
2.8
7.5
6.06
5.15
kpa
—
5
44
13
117
1.14
0.09
3.0
2.7
—
—
—
0
0
9
83
1.10
0.07
2.1
1.5
—
—
—
0
0
24
229
1.08
0.05
8.5
10.0
0.00
0.00
e9/l
0.00
18
183
32
309
1.08
0.05
2.4
3.1
—
—
—
0
0
16
150
1.09
0.05
3.1
3.2
13.40
23.76
ng/l
—
8
90
47
462
1.09
0.03
4.3
4.4
3.22
2.88
mmol/l
1.36
40
433
47
474
0.96
0.00
15.2
13.3
40.44
40.59
%
0.06
34
376
13
134
0.96
0.00
2.4
1.6
2.16
2.09
g/l
—
8
72
44
442
0.98
0.00
4.1
3.6
1.22
1.23
mmol/l
0.04
38
412
52
515
1.08
0.00
11.9
9.8
—
—
—
0
0
0
5
0.00
0.00
0.0
1.2
—
—
—
0
0
0
5
0.00
0.00
0.0
2.8
—
21.60
—
0
5
0
6
0.00
0.00
0.0
7.0
—
—
—
0
0
0
8
0.00
0.00
0.0
2.4
—
1.91
—
0
8
0
5
0.00
0.00
0.0
1.2
—
285.40
—
0
5
0
8
0.00
0.00
0.0
2.4
—
6.51
—
0
8
0
6
0.00
0.00
0.0
2.3
—
—
—
0
0
0
7
0.00
0.00
0.0
1.4
—
—
—
0
0
0
6
0.00
0.00
0.0
21.2
—
2195.67
—
0
6
0
9
0.00
0.00
0.0
1.2
—
—
—
0
0
0
6
0.00
0.00
0.0
1.0
—
—
—
0
0
0
5
0.00
0.00
0.0
1.0
—
—
—
0
0
0
6
0.00
0.00
0.0
2.3
—
4.07
—
0
6
13
130
1.00
0.00
1.4
1.3
—
—
—
0
0
0
5
0.00
0.00
0.0
1.2
—
—
—
0
0
0
5
0.00
0.00
0.0
3.0
—
0.48
—
0
5
6
65
0.91
0.00
1.0
1.1
—
—
—
0
0
0
9
0.00
0.00
0.0
1.4
—
—
—
0
0
0
7
0.00
0.00
0.0
1.4
—
—
—
0
0
0
7
0.00
0.00
0.0
1.4
—
—
—
0
0
0
8
0.00
0.00
0.0
9.1
—
—
—
0
0
0
9
0.00
0.00
0.0
1.6
—
—
—
0
0
0
7
0.00
0.00
0.0
1.4
—
—
—
0
0
0
7
0.00
0.00
0.0
1.1
—
—
—
0
0
0
6
0.00
0.00
0.0
18.0
—
1065.50
—
0
6
0
5
0.00
0.00
0.0
2.6
—
—
—
0
0
0
5
0.00
0.00
0.0
1.0
—
—
—
0
0
0
9
0.00
0.00
0.0
2.2
—
1.26
—
0
9
0
9
0.00
0.00
0.0
2.0
—
—
—
0
0
0
9
0.00
0.00
0.0
1.2
—
259.67
—
0
9
0
8
0.00
0.00
0.0
2.0
—
—
—
0
0
0
6
0.00
0.00
0.0
2.3
—
108.67
—
0
6

Mortality – FinRegistry

Association

Association between endpoint Q17_CONGEN_MALFO_NOSE and mortality.

Females

No data

Males

No data

Mortality risk

Mortality risk for people of age

years, who have Q17_CONGEN_MALFO_NOSE.

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_CONGEN_MALFO_NOSE – Congenital malformations of nose

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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