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

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 Q30
  • Cause of death: ICD-10 Q30

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)

56

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 56 37 19
Unadjusted period prevalence (%) 0.01 0.01 0.01
Median age at first event (years) 36.54 40.24 29.34

-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

-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
60
Matched controls
600
Code
Vocabulary
Description
Odds Ratio
-log10(p)
N matched cases
N matched controls
Q30.8
ICD-10 Finland
Other congenital malformations of nose
+∞
25.9
23
*
Q30.9
ICD-10 Finland
Congenital malformation of nose, unspecified
+∞
16.4
15
*
DLD00
NOMESCO Finland
Reconstruction of cartilage of nose
+∞
14.1
13
*
Q30.0
ICD-10 Finland
Choanal atresia
+∞
13.0
12
*
DLD20
NOMESCO Finland
Rhinoplasty
147.1
11.9
12
*
DLD10
NOMESCO Finland
Reconstruction of cartilage and bone of nose
+∞
8.5
8
*
J34.2
ICD-10 Finland
Deviated nasal septum
8.7
7.1
15
22
Q30.3
ICD-10 Finland
Congenital perforated nasal septum
+∞
6.4
6
*
ZZG00
NOMESCO Finland
Graft of cartilage
+∞
6.4
6
*

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
52
3.21
3.15
1.9
1.4
—
—
—
0
0
10
42
2.65
1.72
1.3
1.3
—
—
—
0
0
8
32
2.72
1.66
1.4
2.3
14.30
12.71
nmol/l
—
8
32
5
16
3.31
1.47
6.0
26.4
1.11
1.12
mg/l
—
5
16
12
61
2.21
1.45
2.8
2.0
—
—
—
0
0
6
24
2.66
1.34
5.7
11.0
—
—
—
0
0
8
35
2.48
1.33
6.0
5.6
1.93
1.63
%
—
8
35
19
120
1.85
1.29
3.5
2.5
—
—
—
0
0
5
19
2.77
1.24
1.6
1.5
—
—
—
0
0
7
31
2.42
1.15
18.3
4.3
—
—
—
0
0
26
190
1.65
1.04
2.0
1.7
—
—
—
0
0
20
137
1.69
1.02
3.5
2.4
—
—
—
0
0
15
95
1.77
0.99
6.0
2.6
12.24
23.69
mg/l
—
8
52
31
242
1.58
0.93
7.1
8.9
—
—
—
0
0
12
73
1.80
0.90
2.9
3.0
2255.80
222.68
ng/l
—
5
44
13
82
1.75
0.87
1.3
1.5
19.62
19.65
nmol/l
0.00
13
72
18
125
1.63
0.86
3.9
3.6
0.03
0.44
e6/l
1.85
12
94
0
24
0.00
0.81
0.0
1.8
—
—
—
0
0
15
104
1.59
0.71
6.5
3.1
2.95
3.92
mg/mmol
—
8
56
5
27
1.93
0.70
2.8
10.9
26.00
24.19
mmol/l
—
5
27
14
96
1.60
0.69
6.7
4.8
—
—
—
0
0
5
29
1.79
0.65
1.0
1.3
—
—
—
0
0
0
20
0.00
0.61
0.0
1.3
—
—
—
0
0
6
36
1.74
0.59
15.2
14.9
26.27
25.22
mmol/l
—
6
36
9
60
1.59
0.58
1.9
1.5
—
—
—
0
0
6
37
1.69
0.57
24.0
12.5
—
—
—
0
0
18
138
1.43
0.54
2.7
8.9
—
—
—
0
0
9
125
0.67
0.50
5.1
2.7
—
—
—
0
0
50
462
1.49
0.47
4.3
3.8
5.75
5.74
mmol/l
0.03
44
431
47
504
0.69
0.46
17.8
12.4
24.52
20.29
mg/l
0.32
41
364
24
200
1.33
0.43
3.1
3.0
85.34
90.93
ug/l
0.10
24
190
16
125
1.38
0.43
4.1
3.6
—
—
—
0
0
0
15
0.00
0.42
0.0
1.4
—
—
—
0
0
9
68
1.38
0.40
2.0
1.5
—
—
—
0
0
9
69
1.36
0.39
2.1
2.1
—
—
—
0
0
17
136
1.35
0.39
7.0
3.6
8.38
26.36
e6/l
0.93
12
108
6
43
1.44
0.36
1.7
1.4
—
—
—
0
0
6
46
1.34
0.34
12.7
7.3
—
—
—
0
0
10
75
1.40
0.32
1.8
3.3
2.44
2.43
mmol/l
—
10
66
15
182
0.77
0.32
3.3
2.4
—
—
—
0
0
39
422
0.78
0.32
5.2
4.4
39.88
38.21
mmol/mol
0.43
33
399
8
63
1.31
0.29
1.6
1.5
—
—
—
0
0
22
251
0.80
0.28
12.8
5.4
6.72
6.43
mmol/l
0.16
22
230
17
143
1.26
0.27
1.9
1.8
93.50
91.25
pmol/l
—
9
71
14
116
1.27
0.25
2.6
1.8
—
—
—
0
0
19
164
1.23
0.24
22.9
7.9
1.17
1.13
inr
—
7
46
14
117
1.26
0.23
2.9
2.7
—
—
—
0
0
5
41
1.24
0.22
1.4
1.6
—
—
—
0
0
5
42
1.21
0.22
2.8
7.8
6.06
5.34
kpa
—
5
42
0
12
0.00
0.21
0.0
1.2
—
—
—
0
0
0
12
0.00
0.21
0.0
1.1
—
—
—
0
0
0
12
0.00
0.21
0.0
1.1
—
—
—
0
0
6
47
1.31
0.21
12.7
7.3
2.23
2.47
mmol/l
—
6
37
0
14
0.00
0.20
0.0
1.1
—
—
—
0
0
0
14
0.00
0.20
0.0
1.3
—
—
—
0
0
10
121
0.79
0.20
5.5
4.0
—
—
—
0
0
6
51
1.20
0.20
1.0
1.6
—
—
—
0
0
53
512
1.30
0.16
16.2
13.3
72.55
69.65
umol/l
0.51
53
512
12
103
1.21
0.15
1.8
2.4
0.81
0.78
mg/l
—
7
77
10
87
1.18
0.10
2.1
1.5
—
—
—
0
0
48
469
1.12
0.06
4.5
4.3
3.22
2.89
mmol/l
1.40
41
441
32
309
1.08
0.05
2.4
3.1
—
—
—
0
0
47
460
1.10
0.05
4.4
3.9
1.47
1.51
mmol/l
0.21
39
432
24
232
1.06
0.02
8.5
9.8
0.00
0.00
e9/l
-0.00
18
186
32
327
0.95
0.01
7.1
4.2
—
—
—
0
0
15
151
0.99
0.00
3.3
3.1
12.58
23.64
ng/l
—
9
90
45
447
1.03
0.00
4.2
3.6
1.26
1.23
mmol/l
0.12
39
417
14
135
1.05
0.00
1.4
1.3
—
—
—
0
0
53
525
1.08
0.00
11.9
9.6
—
—
—
0
0
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
4.4
—
—
—
0
0
0
6
0.00
-0.00
0.0
18.0
—
1065.50
—
0
6
0
5
0.00
-0.00
0.0
3.0
—
0.48
—
0
5
0
6
0.00
-0.00
0.0
2.3
—
—
—
0
0
0
7
0.00
-0.00
0.0
1.3
—
—
—
0
0
0
8
0.00
-0.00
0.0
2.0
—
—
—
0
0
5
52
0.96
-0.00
24.2
5.8
104.80
104.42
mmol/l
—
5
52
0
5
0.00
-0.00
0.0
1.2
—
—
—
0
0
0
6
0.00
-0.00
0.0
21.2
—
2195.67
—
0
6
0
8
0.00
-0.00
0.0
2.4
—
6.51
—
0
8
0
7
0.00
-0.00
0.0
2.6
—
2.04
—
0
7
0
5
0.00
-0.00
0.0
1.4
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.2
—
—
—
0
0
0
7
0.00
-0.00
0.0
1.1
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.0
—
199.60
—
0
5
0
6
0.00
-0.00
0.0
7.0
—
—
—
0
0
0
8
0.00
-0.00
0.0
9.1
—
—
—
0
0
6
65
0.91
-0.00
1.0
1.2
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
8
0.00
-0.00
0.0
9.9
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
5
0.00
-0.00
0.0
3.0
—
—
—
0
0
0
6
0.00
-0.00
0.0
2.3
—
108.67
—
0
6
0
5
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
9
0.00
-0.00
0.0
2.0
—
—
—
0
0
0
9
0.00
-0.00
0.0
2.2
—
1.26
—
0
9
0
9
0.00
-0.00
0.0
1.2
—
—
—
0
0
0
9
0.00
-0.00
0.0
1.6
—
—
—
0
0
0
9
0.00
-0.00
0.0
1.2
—
259.67
—
0
9
0
9
0.00
-0.00
0.0
1.4
—
—
—
0
0

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
loading spinner Loading data