No definition available.
Congenital malformations of ear causing impairment of hearing
Q17_CONGEN_MALFO_EAR_CAUSI_IMPAIRM_HEARING
Endpoint definition
↥
Endpoint definition steps |
FinnGen |
|---|---|
Phenotype data |
520210 |
1. Apply sex-specific ruleNone |
520210 |
2. Check conditionsNone |
520210 |
3. Check pre-conditions, main-only, mode, registry filtersRegistry filters: 2 out of 7 registries used, show all original rules. |
130 |
4. Check minimum number of eventsNone |
130 |
5. Include endpointsNone |
130 |
6. Filter based on genotype QC (FinnGen only) |
130 |
Control definitions (FinnGen only)
- Control exclude
- Q17_CONGEN_MALFO_EYE_EAR_FACE_NECK
Extra metadata
- Level in the ICD hierarchy
- 3
- First used in FinnGen datafreeze
- DF4
- Parent code in ICD-10
- Q1
- Name in latin
- Malformationes congenitae auris cum hypacusi
Similar endpoints
↥List of similar endpoints to
Congenital malformations of ear causing impairment of hearing
based on the number of shared cases.
Similar with more cases:
- Congenital malformations of eye, ear, face and neck
- Congenital malformations, deformations and chromosomal abnormalities
- Any operation in hilmo
- Any event in hilmo or specialist outpatient
- Any prescribed medicine buy
Similar with less cases:
None
Case counts by codes
↥
Summary Statistics
↥-FinRegistry-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | |||
| Whole population | 1650 | 742 | 906 |
| Only index persons | 1416 | 646 | 770 |
| Unadjusted period prevalence (%) | |||
| Whole population | 0.02 | 0.02 | 0.03 |
| Only index persons | 0.03 | 0.02 | 0.03 |
| Median age at first event (years) | |||
| Whole population | 11.63 | 13.91 | 9.73 |
| Only index persons | 14.11 | 16.09 | 12.45 |
-FinnGen-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | 130 | 75 | 55 |
| Unadjusted period prevalence (%) | 0.03 | 0.03 | 0.02 |
| Median age at first event (years) | 27.56 | 22.65 | 34.25 |
-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 (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
- 120
- Matched controls
- 1201
Code
Vocabulary
Description
Odds Ratio
-log10(p)
N matched cases
N matched controls
Q16.1
ICD-10 Finland
Congenital absence, atresia and stricture of auditory canal (external)
+∞
69.7
60
*
Q17.2
ICD-10 Finland
Microtia
+∞
34.0
31
*
H90.1
ICD-10 Finland
Conductive hearing loss, unilateral with unrestricted hearing on the contralateral side
156.4
33.7
34
*
Q16.3
ICD-10 Finland
Congenital malformation of ear ossicles
+∞
30.5
28
*
Q16.0
ICD-10 Finland
Congenital absence of (ear) auricle
+∞
28.2
26
*
H90.6
ICD-10 Finland
Mixed conductive and sensorineural hearing loss, bilateral
45.7
25.8
31
9
UDC00
NOMESCO Finland
Ear microscopy
15.1
25.2
44
44
H90.0
ICD-10 Finland
Conductive hearing loss, bilateral
148.5
23.5
24
*
Z01.1
ICD-10 Finland
Examination of ears and hearing
8.7
20.2
49
88
DFF00
NOMESCO Finland
Pure tone audiometry
12.2
19.6
37
42
DBD20
NOMESCO Finland
Plastic repair of external auditory canal
111.9
18.1
19
*
DC1AD
NOMESCO Finland
Temporalbone CT
39.5
16.3
20
6
H90.7
ICD-10 Finland
Mixed conductive and sensorineural hearing loss, unilateral with unrestricted hearing on the contralateral side
37.2
15.3
19
6
H90.3
ICD-10 Finland
Sensorineural hearing loss, bilateral
8.1
15.1
36
60
DAD10
NOMESCO Finland
Reconstruction of auricle
+∞
13.8
13
*
DBD30
NOMESCO Finland
Correction of atresia of external auditory canal
+∞
13.8
13
*
ZXC10
NOMESCO Finland
Use of laser
42.4
12.5
15
*
DDA00
NOMESCO Finland
Stapedotomy
42.4
12.5
15
*
DAX00
NOMESCO Finland
Adjustment or review of hearing aid
24.4
12.4
17
8
DEE00
NOMESCO Finland
Osseous fixation of hearing aid
+∞
10.6
10
*
ZXA00
NOMESCO Finland
Right side
4.2
9.8
42
135
R5110
NOMESCO Finland
Evaluation of the need for aids, the testing, fitting and choice of the aid, instruction in use and delivery of it
5.8
9.5
28
60
Q16.9
ICD-10 Finland
Congenital malformation of ear causing impairment of hearing, unspecified
+∞
9.5
9
*
Q16.4
ICD-10 Finland
Other congenital malformations of middle ear
+∞
9.5
9
*
R5130
NOMESCO Finland
Repair work or maintenance done on the aid
30.0
8.6
11
*
DAD30
NOMESCO Finland
Plastic repair of auricle
+∞
8.4
8
*
DCD10
NOMESCO Finland
Tympanoplasty
85.1
7.5
8
*
DDD05
NOMESCO Finland
Plastic repair of ossicular chain
+∞
7.4
7
*
Q67.0
ICD-10 Finland
Facial asymmetry
+∞
7.4
7
*
Z97.4
ICD-10 Finland
Presence of external hearing-aid
13.2
7.3
12
10
ZZG00
NOMESCO Finland
Graft of cartilage
73.6
6.5
7
*
DFF15
NOMESCO Finland
Speech audiometry
12.0
6.4
11
10
Q16.2
ICD-10 Finland
Absence of eustachian tube
+∞
6.3
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
19
107
1.91
1.65
3.6
4.0
35.4
31.5
%
0.69
14
68
10
43
2.44
1.65
1.2
2.4
—
—
—
0
0
6
131
0.43
1.38
2.0
5.4
3.3
8.4
umol/l
—
6
109
5
19
2.69
1.22
2.0
2.1
—
—
—
0
0
5
20
2.56
1.16
1.4
1.1
—
—
—
0
0
5
21
2.43
1.10
1.2
1.7
—
—
—
0
0
27
190
1.53
1.08
2.8
3.9
3351.7
656.6
ng/l
0.50
22
157
13
208
0.58
1.03
1.8
1.4
—
—
—
0
0
13
77
1.76
0.99
2.8
5.6
1.8
1.8
mmol/l
—
7
55
0
29
0.00
0.99
0.0
1.2
—
—
—
0
0
0
28
0.00
0.99
0.0
2.6
—
—
—
0
0
18
256
0.66
0.87
4.6
3.8
0.0
0.0
estimate
—
5
99
(3020427) Coagulation factor X inhibitor [Units/volume] in Platelet poor plasma by Coagulation assay
0
24
0.00
0.80
0.0
3.2
—
0.4
—
0
16
0
25
0.00
0.80
0.0
1.8
—
—
—
0
0
22
159
1.46
0.79
1.6
1.8
—
—
—
0
0
41
333
1.34
0.76
2.0
1.8
95.2
96.5
pmol/l
0.06
19
170
5
93
0.52
0.70
1.0
1.1
—
—
—
0
0
85
923
0.77
0.67
3.3
3.7
—
—
—
0
0
0
23
0.00
0.59
0.0
1.1
—
3.3
—
0
9
30
242
1.31
0.58
1.8
2.5
—
—
—
0
0
6
40
1.52
0.52
1.3
2.1
—
—
—
0
0
6
40
1.52
0.52
3.3
4.9
1.1
1.4
%
—
6
40
20
155
1.34
0.50
3.9
2.1
12.3
14.7
umol/l
0.91
20
140
23
285
0.77
0.50
3.2
3.0
0.6
0.3
e6/l
0.48
17
220
22
273
0.77
0.49
2.8
2.4
—
—
—
0
0
12
85
1.45
0.49
1.9
3.0
—
—
—
0
0
8
117
0.66
0.48
1.4
2.6
447.9
357.9
nmol/l
—
8
107
7
48
1.48
0.47
1.1
1.3
—
—
—
0
0
99
934
1.25
0.46
9.1
10.2
92.5
92.4
ml/min/173m2
0.01
78
742
13
95
1.41
0.46
4.6
8.2
—
—
—
0
0
76
819
0.83
0.45
4.2
3.9
14.4
14.5
pmol/l
0.17
69
756
18
140
1.33
0.45
4.1
2.1
2.6
2.4
g/l
0.68
18
124
6
93
0.63
0.44
7.8
6.4
5.5
5.2
kpa
—
6
87
57
512
1.20
0.43
3.2
2.8
106.9
86.1
ug/l
0.20
52
472
113
1086
1.31
0.42
14.2
11.9
26.9
21.9
mg/l
0.57
86
798
5
33
1.54
0.42
8.6
2.0
—
—
—
0
0
80
855
0.83
0.42
6.9
4.7
40.0
38.6
mmol/mol
0.65
73
806
0
16
0.00
0.41
0.0
1.7
—
—
—
0
0
0
16
0.00
0.41
0.0
1.1
—
—
—
0
0
0
16
0.00
0.41
0.0
1.4
—
—
—
0
0
8
60
1.35
0.41
1.5
1.6
—
—
—
0
0
5
35
1.45
0.39
10.2
5.8
79.5
57.3
%
—
5
35
0
19
0.00
0.39
0.0
1.3
—
—
—
0
0
69
635
1.18
0.39
8.5
10.1
4.2
4.1
e9/l
0.07
61
556
19
232
0.79
0.37
1.9
2.4
0.4
1.2
mg/l
1.44
13
168
35
306
1.20
0.35
4.0
2.9
2.3
2.4
mmol/l
0.18
30
275
115
1114
1.28
0.33
13.5
12.6
79.0
72.1
umol/l
0.54
115
1114
6
46
1.32
0.33
1.8
2.5
100.0
160.3
ng/l
—
6
38
6
47
1.29
0.32
1.0
1.5
—
—
—
0
0
30
342
0.84
0.31
4.5
3.3
24.5
30.2
u/l
1.95
30
320
12
151
0.77
0.30
1.5
1.5
—
—
—
0
0
29
330
0.84
0.30
1.3
1.4
0.6
1.3
u/ml
—
8
70
7
57
1.24
0.29
1.4
1.3
—
—
—
0
0
36
321
1.17
0.29
1.5
1.7
—
—
—
0
0
95
988
0.86
0.28
4.0
3.6
1.5
1.5
mmol/l
0.06
90
910
5
72
0.68
0.27
1.4
1.7
—
—
—
0
0
94
974
0.87
0.23
4.6
4.5
1.9
1.8
mu/l
0.24
84
909
31
344
0.87
0.23
2.7
3.4
—
—
—
0
0
91
944
0.88
0.23
3.7
3.4
1.4
1.3
mmol/l
0.45
86
864
46
495
0.89
0.21
4.3
4.9
0.0
0.0
estimate
—
5
103
0
11
0.00
0.21
0.0
1.6
—
—
—
0
0
0
10
0.00
0.21
0.0
1.3
—
—
—
0
0
0
10
0.00
0.21
0.0
1.0
—
—
—
0
0
0
10
0.00
0.21
0.0
2.6
—
—
—
0
0
0
10
0.00
0.21
0.0
1.2
—
—
—
0
0
0
10
0.00
0.21
0.0
1.2
—
—
—
0
0
0
10
0.00
0.21
0.0
5.3
—
115.2
—
0
10
0
10
0.00
0.21
0.0
1.1
—
—
—
0
0
0
10
0.00
0.21
0.0
1.2
—
—
—
0
0
0
10
0.00
0.21
0.0
1.1
—
—
—
0
0
0
10
0.00
0.21
0.0
1.0
—
—
—
0
0
0
10
0.00
0.21
0.0
1.0
—
—
—
0
0
0
10
0.00
0.21
0.0
1.4
—
15.2
—
0
10
0
10
0.00
0.21
0.0
1.0
—
—
—
0
0
97
1001
0.88
0.21
4.4
4.0
2.8
2.8
mmol/l
0.34
91
924
15
176
0.83
0.21
2.7
2.9
0.9
0.8
e6/l
—
7
101
0
12
0.00
0.21
0.0
1.0
—
—
—
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
0
13
0.00
0.21
0.0
1.5
—
—
—
0
0
0
13
0.00
0.21
0.0
1.2
—
—
—
0
0
0
13
0.00
0.21
0.0
1.2
—
—
—
0
0
0
14
0.00
0.20
0.0
1.0
—
—
—
0
0
0
14
0.00
0.20
0.0
1.1
—
—
—
0
0
0
14
0.00
0.20
0.0
1.1
—
—
—
0
0
0
14
0.00
0.20
0.0
1.1
—
—
—
0
0
(3016894) Varicella zoster virus DNA [Presence] in Cerebral spinal fluid by NAA with probe detection
0
14
0.00
0.20
0.0
1.1
—
—
—
0
0
18
156
1.18
0.20
2.1
1.9
—
—
—
0
0
22
247
0.87
0.19
2.5
2.3
—
—
—
0
0
13
153
0.83
0.19
22.2
7.5
1.1
1.1
mmol/l
0.02
13
142
47
502
0.90
0.19
4.8
6.6
9.9
11.8
umol/l
0.98
40
469
63
598
1.10
0.18
5.4
4.6
7.1
6.5
mmol/l
0.71
55
532
14
163
0.84
0.18
2.3
3.1
1.8
2.5
e6/l
—
6
88
47
500
0.91
0.17
3.1
3.5
0.0
0.0
estimate
—
5
96
5
65
0.76
0.17
2.4
3.3
4.3
4.9
pmol/l
—
5
57
5
67
0.74
0.17
1.6
1.5
—
—
—
0
0
6
78
0.76
0.16
1.0
4.5
1.8
13.2
ug/l
—
6
59
9
78
1.17
0.16
3.1
9.1
24.1
24.9
mmol/l
—
9
78
35
373
0.92
0.13
3.4
3.5
—
—
—
0
0
15
167
0.88
0.11
2.7
5.3
0.8
0.8
mmol/l
0.11
15
154
14
125
1.13
0.10
3.9
2.6
0.8
0.7
ug/l
—
9
78
47
489
0.94
0.09
3.1
3.5
0.0
0.0
estimate
—
5
100
7
84
0.82
0.07
1.4
1.4
—
—
—
0
0
7
84
0.82
0.07
1.4
1.5
—
—
—
0
0
7
84
0.82
0.07
1.4
1.5
—
—
—
0
0
9
84
1.08
0.07
1.3
1.2
—
—
—
0
0
8
94
0.84
0.07
1.4
1.6
—
—
—
0
0
19
178
1.08
0.06
3.6
4.1
20.1
23.3
%
—
9
76
42
433
0.96
0.05
11.7
7.9
1.2
1.2
mmol/l
0.31
37
377
32
308
1.05
0.05
4.5
3.7
23.4
44.1
ng/l
0.77
18
187
11
118
0.93
0.03
1.5
1.7
—
—
—
0
0
11
104
1.06
0.01
1.8
1.4
—
—
—
0
0
108
1074
1.03
0.00
13.3
12.4
40.6
40.7
%
0.05
80
878
26
266
0.97
0.00
2.0
2.6
2.8
2.7
mg/l
0.14
21
230
13
126
1.04
0.00
1.6
1.8
—
—
—
0
0
18
176
1.03
0.00
1.4
1.3
18.1
22.6
iu/ml
0.19
11
57
48
482
0.99
0.00
4.0
4.2
—
—
—
0
0
18
177
1.02
0.00
1.3
1.2
1.0
7.1
u/ml
—
7
64
96
965
0.98
0.00
3.9
3.5
6.0
5.7
mmol/l
0.61
87
886
17
165
1.03
0.00
2.9
3.2
275.5
218.6
ng/l
—
8
105
11
105
1.05
0.00
2.2
1.5
—
—
—
0
0
75
754
0.99
0.00
3.1
4.1
9.1
10.0
mm/h
0.30
69
696
0
9
0.00
0.00
0.0
1.0
—
—
—
0
0
0
5
0.00
0.00
0.0
7.2
—
—
—
0
0
5
53
0.94
0.00
2.8
1.4
—
—
—
0
0
0
8
0.00
0.00
0.0
1.0
—
—
—
0
0
0
9
0.00
0.00
0.0
1.0
—
—
—
0
0
0
8
0.00
0.00
0.0
1.0
—
1961.3
—
0
8
0
5
0.00
0.00
0.0
1.8
—
—
—
0
0
0
5
0.00
0.00
0.0
3.4
—
—
—
0
0
0
5
0.00
0.00
0.0
1.0
—
—
—
0
0
0
5
0.00
0.00
0.0
10.6
—
—
—
0
0
0
8
0.00
0.00
0.0
4.8
—
—
—
0
0
0
6
0.00
0.00
0.0
1.2
—
—
—
0
0
0
9
0.00
0.00
0.0
1.3
—
—
—
0
0
0
5
0.00
0.00
0.0
1.2
—
—
—
0
0
0
5
0.00
0.00
0.0
1.4
—
1540.2
—
0
5
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
1.5
—
—
—
0
0
0
8
0.00
0.00
0.0
4.8
—
—
—
0
0
0
8
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
3.4
—
—
—
0
0
5
51
0.98
0.00
1.6
1.4
—
—
—
0
0
Mortality – FinRegistry
↥Association
Association between endpoint Q17_CONGEN_MALFO_EAR_CAUSI_IMPAIRM_HEARING and mortality.
Females
No dataMales
No dataMortality risk
Mortality risk for people of age
years, who have Q17_CONGEN_MALFO_EAR_CAUSI_IMPAIRM_HEARING.| 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_EAR_CAUSI_IMPAIRM_HEARING – Congenital malformations of ear causing impairment of hearing
GWS hits: 1
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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