Microtia (small ears)

Q17_MICROTIA

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:

  • Hospital discharge: ICD-10 Q17.2
  • Cause of death: ICD-10 Q17.2

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

71

4. Check minimum number of events

None

71

5. Include endpoints

None

71

6. Filter based on genotype QC (FinnGen only)

67

Control definitions (FinnGen only)

Controls for this endpoint are individuals that are not cases.

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 67 43 24
Unadjusted period prevalence (%) 0.01 0.02 0.01
Median age at first event (years) 17.05 18.15 15.08

-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
69
Matched controls
690
Code
Vocabulary
Description
Odds Ratio
-log10(p)
N matched cases
N matched controls
Q17.2
ICD-10 Finland
Microtia
+∞
99.1
69
*
Q16.0
ICD-10 Finland
Congenital absence of (ear) auricle
+∞
24.4
22
*
DAD10
NOMESCO Finland
Reconstruction of auricle
337.7
24.3
23
*
Q16.1
ICD-10 Finland
Congenital absence, atresia and stricture of auditory canal (external)
+∞
23.2
21
*
H90.1
ICD-10 Finland
Conductive hearing loss, unilateral with unrestricted hearing on the contralateral side
295.7
21.9
21
*
Z01.1
ICD-10 Finland
Examination of ears and hearing
10.1
19.6
30
49
ZZG00
NOMESCO Finland
Graft of cartilage
+∞
15.1
14
*
H90.0
ICD-10 Finland
Conductive hearing loss, bilateral
172.6
14.0
14
*
ZXE20
NOMESCO Finland
More than three and less than five hours
8.0
13.2
22
38
ZXD10
NOMESCO Finland
Scheduled procedure
5.9
12.3
42
144
ZXE10
NOMESCO Finland
More than one and less than three hours
5.8
12.2
37
114
DEE00
NOMESCO Finland
Osseous fixation of hearing aid
+∞
11.8
11
*
DFF00
NOMESCO Finland
Pure tone audiometry
12.6
11.6
21
23
DAX00
NOMESCO Finland
Adjustment or review of hearing aid
22.6
11.4
16
9
ZXA00
NOMESCO Finland
Right side
6.1
11.3
26
62
DC1AD
NOMESCO Finland
Temporalbone CT
128.8
10.7
11
*
DAD30
NOMESCO Finland
Plastic repair of auricle
+∞
9.6
9
*
ZZA00
NOMESCO Finland
Split skin graft
42.9
9.3
11
*
QA4S1
NOMESCO Finland
Photography of skin or subcutaneous tissue in face
57.6
8.9
10
*
WX408
NOMESCO Finland
General anesthesy, balanced
4.5
8.6
31
105
7442B
ICD-9 Finland
Congenital anomalies of ear, face and neck, Other specified anomalies of ear[MICROTIA]
+∞
8.5
8
*
H90.6
ICD-10 Finland
Mixed conductive and sensorineural hearing loss, bilateral
+∞
8.5
8
*
Q67.0
ICD-10 Finland
Facial asymmetry
+∞
8.5
8
*
R5110
NOMESCO Finland
Evaluation of the need for aids, the testing, fitting and choice of the aid, instruction in use and delivery of it
8.3
8.5
19
30
Z3229
NOMESCO Finland
Other healthcare associate professional
8.3
8.1
18
28
R5130
NOMESCO Finland
Repair work or maintenance done on the aid
28.8
7.8
10
*
ZXA10
NOMESCO Finland
Bilateral
5.0
7.8
21
56
H90.3
ICD-10 Finland
Sensorineural hearing loss, bilateral
8.3
7.7
17
26
H90.7
ICD-10 Finland
Mixed conductive and sensorineural hearing loss, unilateral with unrestricted hearing on the contralateral side
44.5
6.9
8
*
R5140
NOMESCO Finland
Monitoring the use of the aid
8.5
6.6
14
20
Q87.03
ICD-10 Finland
Syndrome Goldenhar
76.6
6.5
7
*
WX404
NOMESCO Finland
Intravenous generell anesthesy
3.9
6.5
26
93
ZXE00
NOMESCO Finland
One hour or less
3.6
6.4
39
183
Q17.3
ICD-10 Finland
Other misshapen ear
+∞
6.3
6
*
4105
FHL
Earlobe reconstruction or plastic
+∞
6.3
6
*
UDC00
NOMESCO Finland
Ear microscopy
8.2
6.1
13
19
Z01.8
ICD-10 Finland
Other specified special examinations
3.9
6.0
23
79

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
59
2.72
2.48
2.3
1.8
—
—
—
0
0
29
180
2.05
2.14
2.7
3.2
—
—
—
0
0
10
45
2.43
1.55
1.4
9.1
—
—
—
0
0
40
301
1.78
1.51
4.2
9.3
6.85
6.28
mmol/l
0.52
34
279
35
267
1.63
1.16
3.1
3.7
—
—
estimate
—
0
0
9
51
1.88
0.99
1.0
1.3
181.22
568.00
u/ml
—
9
51
26
191
1.58
0.97
6.7
8.5
—
—
—
0
0
30
231
1.53
0.90
1.7
1.9
—
—
—
0
0
0
24
0.00
0.81
0.0
2.5
—
288.67
—
0
24
9
53
1.80
0.79
4.9
15.1
106.78
104.38
mmol/l
—
9
53
19
248
0.68
0.68
1.6
3.2
—
0.00
estimate
—
0
58
5
28
1.85
0.67
2.2
6.8
0.94
1.49
%
—
5
28
5
28
1.85
0.67
2.2
6.8
0.68
0.62
%
—
5
28
11
159
0.63
0.64
1.5
1.7
—
—
—
0
0
8
52
1.61
0.62
1.6
1.5
—
—
—
0
0
23
180
1.42
0.60
2.0
1.9
—
—
—
0
0
0
22
0.00
0.60
0.0
2.5
—
3.56
—
0
22
9
59
1.60
0.58
2.0
1.8
—
—
—
0
0
15
109
1.48
0.57
2.3
2.7
—
—
—
0
0
14
187
0.68
0.55
1.5
2.6
—
0.00
estimate
—
0
56
11
154
0.66
0.55
2.7
3.2
49.09
55.42
u/l
0.45
11
146
62
582
1.64
0.54
8.9
13.8
20.21
21.09
mg/l
0.07
45
445
14
104
1.43
0.48
1.1
1.4
0.90
4.27
u/ml
—
6
48
8
55
1.51
0.45
4.0
17.7
25.51
25.08
mmol/l
—
8
55
8
57
1.46
0.44
1.0
1.2
—
—
—
0
0
11
147
0.70
0.43
3.7
6.6
—
—
—
0
0
8
59
1.40
0.43
2.8
10.9
4.56
4.90
kpa
—
8
59
0
16
0.00
0.41
0.0
1.4
—
—
—
0
0
0
18
0.00
0.40
0.0
3.1
—
—
—
0
0
0
18
0.00
0.40
0.0
2.7
—
—
—
0
0
19
230
0.76
0.40
1.4
1.6
13.54
1.63
u/ml
—
5
42
0
19
0.00
0.39
0.0
28.7
—
—
—
0
0
10
72
1.45
0.39
2.5
1.7
366.60
483.80
pmol/l
—
10
66
9
70
1.33
0.38
2.7
10.0
6.13
5.80
kpa
—
9
70
23
193
1.29
0.37
2.0
1.7
102.50
94.44
pmol/l
0.52
14
97
6
85
0.68
0.35
2.2
1.5
—
—
—
0
0
6
46
1.33
0.34
1.2
1.4
—
—
—
0
0
22
255
0.80
0.32
2.8
2.5
—
—
—
0
0
7
56
1.28
0.30
3.6
10.4
24.14
23.78
mmol/l
—
7
56
9
71
1.31
0.27
2.3
1.8
—
—
—
0
0
9
71
1.31
0.27
3.3
2.8
—
—
—
0
0
9
71
1.31
0.27
1.1
1.2
—
—
—
0
0
18
153
1.24
0.26
2.2
4.1
—
—
—
0
0
17
198
0.81
0.25
1.9
1.8
—
—
—
0
0
5
37
1.38
0.24
2.4
2.2
—
—
—
0
0
20
174
1.21
0.23
2.6
8.0
1.10
1.08
inr
0.07
15
138
5
41
1.24
0.22
2.6
4.7
4.50
4.80
pmol/l
—
5
36
12
144
0.80
0.22
2.8
3.9
7.38
7.40
ph
—
6
94
9
114
0.76
0.22
2.0
4.9
—
—
—
0
0
0
11
0.00
0.21
0.0
1.4
—
—
—
0
0
0
11
0.00
0.21
0.0
1.3
—
—
—
0
0
0
10
0.00
0.21
0.0
4.3
—
6.80
—
0
10
0
10
0.00
0.21
0.0
4.3
—
25.70
—
0
10
0
10
0.00
0.21
0.0
2.3
—
84.20
—
0
10
0
10
0.00
0.21
0.0
1.2
—
—
—
0
0
0
10
0.00
0.21
0.0
4.3
—
63.00
—
0
10
16
185
0.82
0.21
2.3
3.8
7.11
33.43
e6/l
—
9
145
0
12
0.00
0.21
0.0
4.3
—
16.92
—
0
12
0
12
0.00
0.21
0.0
1.3
—
250.00
—
0
6
0
13
0.00
0.21
0.0
1.2
—
—
—
0
0
0
14
0.00
0.20
0.0
1.1
—
—
—
0
0
0
14
0.00
0.20
0.0
2.9
—
6.09
—
0
14
0
14
0.00
0.20
0.0
1.9
—
—
—
0
0
0
14
0.00
0.20
0.0
3.6
—
—
—
0
0
20
177
1.18
0.19
1.9
1.9
—
—
—
0
0
21
187
1.18
0.19
3.6
8.0
—
—
—
0
0
30
325
0.86
0.18
3.4
2.9
—
—
—
0
0
18
203
0.85
0.18
1.4
1.7
1.96
1.91
g/l
0.05
13
121
7
61
1.16
0.18
8.1
23.2
—
—
—
0
0
5
68
0.71
0.18
1.8
2.8
401.00
368.53
nmol/l
—
5
68
7
86
0.79
0.15
14.1
13.0
1.25
1.18
mmol/l
—
7
77
7
85
0.80
0.15
2.0
1.5
—
—
—
0
0
7
85
0.80
0.15
2.1
1.5
—
—
—
0
0
8
96
0.81
0.15
1.0
1.2
—
—
—
0
0
14
158
0.86
0.14
2.5
2.6
—
—
—
0
0
14
157
0.86
0.12
2.4
3.7
0.00
0.16
e6/l
—
7
118
20
218
0.88
0.12
2.8
2.3
—
—
—
0
0
25
268
0.89
0.11
2.3
3.3
6.17
6.35
ph
0.27
12
141
12
135
0.87
0.11
2.3
3.2
11.17
20.65
ng/l
—
6
62
5
43
1.18
0.10
1.2
1.5
—
—
—
0
0
5
46
1.09
0.10
1.4
1.6
—
—
—
0
0
17
156
1.12
0.09
1.7
3.4
1.01
1.02
kg/l
—
8
94
5
61
0.81
0.08
3.6
2.0
—
—
—
0
0
7
67
1.05
0.08
1.7
1.5
—
—
—
0
0
21
224
0.91
0.08
3.1
4.7
29.32
27.34
e6/l
—
10
154
7
81
0.85
0.07
2.0
1.6
—
—
—
0
0
7
84
0.81
0.07
2.0
1.5
—
—
—
0
0
40
389
1.07
0.05
3.5
4.4
—
—
—
0
0
14
150
0.92
0.05
2.3
3.8
—
—
estimate
—
0
0
31
303
1.04
0.01
5.1
10.7
0.00
0.00
e9/l
-0.00
22
241
32
327
0.96
0.01
2.0
3.6
—
0.00
estimate
—
0
71
31
305
1.03
0.00
7.1
8.6
0.04
0.04
e9/l
0.05
26
267
35
345
1.03
0.00
6.7
11.3
3.86
3.80
e9/l
0.04
28
303
31
306
1.02
0.00
7.1
8.6
0.57
0.54
e9/l
0.27
26
269
0
8
0.00
0.00
0.0
1.1
—
6.22
—
0
8
0
9
0.00
0.00
0.0
3.4
—
93.93
—
0
9
0
8
0.00
0.00
0.0
1.1
—
—
—
0
0
0
9
0.00
0.00
0.0
2.0
—
—
—
0
0
0
9
0.00
0.00
0.0
59.7
—
163.00
—
0
9
0
9
0.00
0.00
0.0
9.6
—
0.63
—
0
9
0
8
0.00
0.00
0.0
3.0
—
17.55
—
0
8
6
62
0.96
0.00
1.0
1.1
—
—
—
0
0
0
8
0.00
0.00
0.0
1.1
—
2.70
—
0
8
0
9
0.00
0.00
0.0
2.0
—
—
—
0
0
0
9
0.00
0.00
0.0
2.0
—
—
—
0
0
6
63
0.95
0.00
2.2
1.6
—
—
—
0
0
0
8
0.00
0.00
0.0
3.8
—
—
—
0
0
0
9
0.00
0.00
0.0
2.0
—
—
—
0
0
0
8
0.00
0.00
0.0
8.1
—
43.38
—
0
8
0
6
0.00
-0.00
0.0
1.2
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.4
—
—
—
0
0
6
65
0.92
-0.00
1.2
1.8
—
—
—
0
0
0
6
0.00
-0.00
0.0
2.7
—
1.45
—
0
6
0
7
0.00
-0.00
0.0
2.0
—
0.50
—
0
7
0
6
0.00
-0.00
0.0
2.5
—
221.33
—
0
6
0
5
0.00
-0.00
0.0
1.2
—
223.60
—
0
5
0
6
0.00
-0.00
0.0
2.5
—
5.37
—
0
6
0
5
0.00
-0.00
0.0
1.2
—
—
—
0
0
6
66
0.90
-0.00
1.8
2.1
—
—
—
0
0
0
7
0.00
-0.00
0.0
1.0
—
146.00
—
0
7
0
5
0.00
-0.00
0.0
1.8
—
—
—
0
0
0
5
0.00
-0.00
0.0
3.4
—
26.40
—
0
5
0
6
0.00
-0.00
0.0
1.0
—
26.67
—
0
6
0
5
0.00
-0.00
0.0
1.0
—
4.54
—
0
5
0
6
0.00
-0.00
0.0
2.8
—
—
—
0
0
0
7
0.00
-0.00
0.0
1.3
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.4
—
—
—
0
0
0
7
0.00
-0.00
0.0
1.0
—
—
—
0
0
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
6
0.00
-0.00
0.0
1.3
—
—
—
0
0
0
5
0.00
-0.00
0.0
3.0
—
63.80
—
0
5
0
7
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
6
0.00
-0.00
0.0
5.5
—
21.75
—
0
6
0
7
0.00
-0.00
0.0
1.1
—
7.67
—
0
7
0
5
0.00
-0.00
0.0
7.2
—
0.75
—
0
5
13
130
1.00
-0.00
2.5
1.6
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.0
—
139.17
—
0
6
0
5
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
7
0.00
-0.00
0.0
1.0
—
22.98
—
0
7
0
6
0.00
-0.00
0.0
2.0
—
—
—
0
0

Mortality – FinRegistry

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

Relationships between endpoints

Index endpoint: Q17_MICROTIA – Microtia (small ears)

GWS hits: -

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