Microtia (small ears)

Q17_MICROTIA

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

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

68

4. Check minimum number of events

None

68

5. Include endpoints

None

68

6. Filter based on genotype QC (FinnGen only)

66

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 66 42 24
Unadjusted period prevalence (%) 0.01 0.01 0.01
Median age at first event (years) 16.99 18.08 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
68
Matched controls
680
Code
Vocabulary
Description
Odds Ratio
-log10(p)
N matched cases
N matched controls
Q17.2
ICD-10 Finland
Microtia
+∞
97.7
68
*
Q16.0
ICD-10 Finland
Congenital absence of (ear) auricle
+∞
23.2
21
*
H90.1
ICD-10 Finland
Conductive hearing loss, unilateral with unrestricted hearing on the contralateral side
+∞
22.1
20
*
Q16.1
ICD-10 Finland
Congenital absence, atresia and stricture of auditory canal (external)
+∞
22.1
20
*
DAD10
NOMESCO Finland
Reconstruction of auricle
297.5
21.9
21
*
Z01.1
ICD-10 Finland
Examination of ears and hearing
10.2
19.4
29
46
ZZG00
NOMESCO Finland
Graft of cartilage
+∞
15.2
14
*
H90.0
ICD-10 Finland
Conductive hearing loss, bilateral
173.2
14.0
14
*
ZXE20
NOMESCO Finland
More than three and less than five hours
8.3
13.6
22
37
ZXE10
NOMESCO Finland
More than one and less than three hours
6.2
12.9
37
110
ZXD10
NOMESCO Finland
Scheduled procedure
6.2
12.7
42
141
DAX00
NOMESCO Finland
Adjustment or review of hearing aid
29.2
12.2
16
7
DFF00
NOMESCO Finland
Pure tone audiometry
14.4
11.8
20
19
ZXA00
NOMESCO Finland
Right side
6.4
11.7
26
60
DC1AD
NOMESCO Finland
Temporalbone CT
129.1
10.7
11
*
DEE00
NOMESCO Finland
Osseous fixation of hearing aid
+∞
10.7
10
*
DAD30
NOMESCO Finland
Plastic repair of auricle
+∞
9.6
9
*
ZZA00
NOMESCO Finland
Split skin graft
43.0
9.3
11
*
R5110
NOMESCO Finland
Evaluation of the need for aids, the testing, fitting and choice of the aid, instruction in use and delivery of it
9.7
9.3
19
26
QA4S1
NOMESCO Finland
Photography of skin or subcutaneous tissue in face
57.7
8.9
10
*
WX408
NOMESCO Finland
General anesthesy, balanced
4.7
8.9
31
103
7442B
ICD-9 Finland
Congenital anomalies of ear, face and neck, Other specified anomalies of ear[MICROTIA]
+∞
8.5
8
*
Q67.0
ICD-10 Finland
Facial asymmetry
+∞
8.5
8
*
H90.6
ICD-10 Finland
Mixed conductive and sensorineural hearing loss, bilateral
+∞
8.5
8
*
H90.3
ICD-10 Finland
Sensorineural hearing loss, bilateral
9.5
8.3
17
23
ZXA10
NOMESCO Finland
Bilateral
5.2
8.2
21
54
Z3229
NOMESCO Finland
Other healthcare associate professional
8.3
8.1
18
28
R5130
NOMESCO Finland
Repair work or maintenance done on the aid
34.0
7.3
9
*
H90.7
ICD-10 Finland
Mixed conductive and sensorineural hearing loss, unilateral with unrestricted hearing on the contralateral side
44.6
6.9
8
*
ZXE00
NOMESCO Finland
One hour or less
3.8
6.8
39
178
Z01.8
ICD-10 Finland
Other specified special examinations
4.2
6.8
23
73
Q87.03
ICD-10 Finland
Syndrome Goldenhar
76.8
6.5
7
*
4105
FHL
Earlobe reconstruction or plastic
+∞
6.3
6
*
UDC00
NOMESCO Finland
Ear microscopy
8.6
6.3
13
18
WX404
NOMESCO Finland
Intravenous generell anesthesy
3.8
6.1
25
90
R5140
NOMESCO Finland
Monitoring the use of the aid
8.2
6.1
13
19

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
12
50
2.70
2.17
2.2
1.6
—
—
—
0
0
24
150
1.93
1.68
2.4
3.2
—
—
—
0
0
5
19
2.76
1.24
2.2
6.9
0.68
0.80
%
—
5
19
36
274
1.67
1.23
3.7
8.4
6.75
6.31
mmol/l
0.37
30
247
0
34
0.00
1.19
0.0
1.3
—
—
—
0
0
5
20
2.61
1.17
2.2
6.7
0.94
1.61
%
—
5
20
7
37
1.99
0.97
4.3
12.5
106.14
103.92
mmol/l
—
7
37
8
43
1.97
0.91
1.0
1.4
201.88
620.65
u/ml
—
8
43
8
44
1.93
0.89
1.4
9.1
—
—
—
0
0
63
581
2.15
0.86
6.6
9.6
—
—
—
0
0
8
47
1.79
0.84
2.1
1.9
—
—
—
0
0
8
47
1.79
0.84
2.8
14.1
25.51
25.18
mmol/l
—
8
47
20
147
1.51
0.73
2.0
1.6
103.54
95.50
pmol/l
0.44
13
73
10
63
1.69
0.66
2.4
1.7
366.60
504.67
pmol/l
—
10
58
26
206
1.42
0.65
1.7
1.9
—
—
—
0
0
13
89
1.57
0.64
1.6
1.4
21.08
19.79
nmol/l
0.12
13
79
0
20
0.00
0.61
0.0
2.6
—
3.65
—
0
20
0
22
0.00
0.60
0.0
2.5
—
266.50
—
0
22
9
132
0.63
0.59
1.3
1.7
—
—
—
0
0
12
82
1.56
0.59
2.3
2.9
—
—
—
0
0
6
93
0.61
0.46
2.3
5.0
—
—
—
0
0
14
181
0.71
0.46
1.7
1.8
—
—
—
0
0
15
191
0.72
0.45
3.0
4.4
32.47
29.27
e6/l
—
9
131
8
57
1.46
0.44
2.3
1.8
—
—
—
0
0
58
544
1.45
0.43
6.8
11.9
20.86
20.52
mg/l
0.02
42
392
10
71
1.48
0.42
5.1
3.3
25.44
152.69
mg/l
—
10
44
0
15
0.00
0.42
0.0
1.4
—
—
—
0
0
0
16
0.00
0.41
0.0
7.8
—
—
—
0
0
0
16
0.00
0.41
0.0
2.9
—
—
—
0
0
5
34
1.51
0.41
1.4
5.1
—
—
—
0
0
0
17
0.00
0.41
0.0
2.8
—
—
—
0
0
0
17
0.00
0.41
0.0
31.2
—
—
—
0
0
9
67
1.39
0.40
1.1
1.1
—
—
—
0
0
5
36
1.42
0.39
2.4
2.1
—
—
—
0
0
10
133
0.71
0.38
2.0
3.2
44.90
55.64
u/l
—
10
125
6
43
1.43
0.36
1.3
1.4
—
—
—
0
0
6
44
1.40
0.35
1.2
1.4
—
—
—
0
0
19
157
1.29
0.34
1.8
1.8
—
—
—
0
0
7
51
1.41
0.33
6.7
21.4
—
—
—
0
0
32
285
1.23
0.31
2.7
2.9
49.41
64.44
ug/l
0.77
32
264
8
61
1.35
0.30
2.6
10.5
—
—
—
0
0
20
232
0.80
0.29
2.5
2.3
—
—
—
0
0
5
73
0.66
0.27
2.2
1.5
—
—
—
0
0
11
136
0.77
0.26
2.3
3.5
—
—
—
0
0
35
381
0.83
0.26
2.9
4.0
8.66
8.23
mm/h
0.06
35
357
0
11
0.00
0.21
0.0
2.7
—
—
—
0
0
0
11
0.00
0.21
0.0
1.2
—
—
—
0
0
0
11
0.00
0.21
0.0
2.1
—
10.08
—
0
11
0
10
0.00
0.21
0.0
3.9
—
63.10
—
0
10
0
10
0.00
0.21
0.0
1.2
—
—
—
0
0
0
10
0.00
0.21
0.0
3.9
—
26.00
—
0
10
0
12
0.00
0.21
0.0
4.0
—
16.75
—
0
12
6
48
1.27
0.21
1.0
1.2
—
—
—
0
0
0
13
0.00
0.21
0.0
3.3
—
—
—
0
0
13
153
0.81
0.20
1.3
2.6
—
—
—
0
0
0
14
0.00
0.20
0.0
1.1
—
—
—
0
0
6
52
1.17
0.19
1.0
1.2
—
—
—
0
0
6
52
1.17
0.19
1.5
1.5
—
—
—
0
0
25
275
0.86
0.19
2.9
4.9
—
0.00
—
0
56
7
60
1.19
0.18
3.0
2.8
—
—
—
0
0
13
111
1.21
0.17
2.0
1.6
—
—
—
0
0
13
147
0.86
0.13
2.5
2.6
—
—
—
0
0
6
58
1.04
0.08
1.2
1.8
—
—
—
0
0
6
72
0.82
0.08
2.0
1.5
—
—
—
0
0
6
73
0.80
0.08
2.2
1.5
—
—
—
0
0
6
73
0.80
0.08
2.0
1.5
—
—
—
0
0
6
74
0.79
0.08
14.7
13.2
1.23
1.20
mmol/l
—
6
68
7
84
0.81
0.07
1.0
1.1
—
—
—
0
0
12
132
0.89
0.07
2.0
3.8
—
—
—
0
0
27
279
0.95
0.03
3.1
2.5
—
—
—
0
0
15
158
0.94
0.02
1.9
1.8
—
—
—
0
0
53
523
1.06
0.01
10.7
14.9
333.96
334.17
g/l
0.07
53
517
15
148
1.02
0.00
4.4
8.4
—
—
—
0
0
35
353
0.98
0.00
3.2
4.2
—
—
—
0
0
28
275
1.03
0.00
4.4
9.4
0.00
0.00
e9/l
-0.00
19
222
17
166
1.03
0.00
2.5
2.1
—
—
—
0
0
26
256
1.03
0.00
5.5
8.8
—
—
—
0
0
32
318
1.01
0.00
4.8
10.2
3.73
3.85
e9/l
0.09
27
283
0
8
0.00
-0.00
0.0
1.1
—
—
—
0
0
0
7
0.00
-0.00
0.0
1.7
—
—
—
0
0
0
7
0.00
-0.00
0.0
1.0
—
—
—
0
0
5
52
0.96
-0.00
2.2
1.6
—
—
—
0
0
0
8
0.00
-0.00
0.0
1.1
—
6.22
—
0
8
0
7
0.00
-0.00
0.0
6.9
—
0.63
—
0
7
0
6
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
8
0.00
-0.00
0.0
6.8
—
—
—
0
0
0
6
0.00
-0.00
0.0
4.8
—
20.50
—
0
6
0
7
0.00
-0.00
0.0
1.0
—
11.17
—
0
7
0
9
0.00
-0.00
0.0
55.1
—
165.56
—
0
9
0
8
0.00
-0.00
0.0
4.1
—
2.38
—
0
8
0
9
0.00
-0.00
0.0
3.1
—
—
—
0
0
0
8
0.00
-0.00
0.0
1.1
—
2.70
—
0
8
0
6
0.00
-0.00
0.0
1.7
—
—
—
0
0
0
7
0.00
-0.00
0.0
1.3
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.3
—
—
—
0
0
0
7
0.00
-0.00
0.0
3.3
—
—
—
0
0
0
9
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
9
0.00
-0.00
0.0
2.3
—
87.56
—
0
9
0
7
0.00
-0.00
0.0
1.0
—
146.00
—
0
7
0
8
0.00
-0.00
0.0
1.1
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.8
—
1.48
—
0
6
0
7
0.00
-0.00
0.0
2.0
—
—
—
0
0
6
62
0.96
-0.00
1.7
2.1
—
—
—
0
0
6
69
0.86
-0.00
2.0
1.5
—
—
—
0
0
0
6
0.00
-0.00
0.0
2.7
—
1.45
—
0
6
0
8
0.00
-0.00
0.0
3.4
—
1.61
—
0
8
0
6
0.00
-0.00
0.0
1.0
—
139.17
—
0
6
0
6
0.00
-0.00
0.0
2.5
—
5.37
—
0
6
0
6
0.00
-0.00
0.0
1.2
—
8.00
—
0
6
0
9
0.00
-0.00
0.0
1.3
—
—
—
0
0
0
7
0.00
-0.00
0.0
8.7
—
46.71
—
0
7
0
6
0.00
-0.00
0.0
1.2
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.4
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.4
—
—
—
0
0
0
5
0.00
-0.00
0.0
6.8
—
0.79
—
0
5
0
5
0.00
-0.00
0.0
1.0
—
21.18
—
0
5
0
5
0.00
-0.00
0.0
1.0
—
—
—
0
0
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
5
0.00
-0.00
0.0
3.8
—
59.40
—
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
5
0.00
-0.00
0.0
1.2
—
223.60
—
0
5
0
5
0.00
-0.00
0.0
2.8
—
—
—
0
0
0
5
0.00
-0.00
0.0
2.2
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.0
—
4.54
—
0
5
0
5
0.00
-0.00
0.0
3.0
—
63.80
—
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

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).