Other congenital musculoskeletal deformities, including avohilmo

Q17_OTHER_CONGEN_MUSCULOS_DEFORMITI_WIDE

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:

  • Primary healthcare outpatient: ICD-10 Q68
  • Hospital discharge: ICD-10 Q68
  • Cause of death: ICD-10 Q68

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

149

4. Check minimum number of events

None

149

5. Include endpoints

None

149

6. Filter based on genotype QC (FinnGen only)

133

Control definitions (FinnGen only)

Control exclude
Q17_CONGEN_MALFO_DEFORMAT_MUSCULOS_SYSTEM

Extra metadata

Level in the ICD hierarchy
3
First used in FinnGen datafreeze
DF13
Parent code in ICD-10
Q6[5-9]|Q7
Name in latin
Aliae deformitates musculosceletales congenitae

Similar endpoints

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 133 94 39
Unadjusted period prevalence (%) 0.03 0.03 0.02
Median age at first event (years) 16.32 17.00 14.68

-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
141
Matched controls
1410
Code
Vocabulary
Description
Odds Ratio
-log10(p)
N matched cases
N matched controls
Q68.8
ICD-10 Finland
Other specified congenital musculoskeletal deformities
+∞
58.5
52
*
Q68.1
ICD-10 Finland
Congenital deformity of hand
+∞
47.6
43
*
Q68.0
ICD-10 Finland
Congenital deformity of sternocleidomastoid muscle
+∞
25.8
24
*
Q68.2
ICD-10 Finland
Congenital deformity of knee
+∞
17.0
16
*
Q74.3
ICD-10 Finland
Arthrogryposis multiplex congenita
+∞
9.5
9
*
NAL22
NOMESCO Finland
Myotomy or tenotomy of spine or neck
84.3
7.5
8
*
ZXE10
NOMESCO Finland
More than one and less than three hours
2.6
6.4
53
268
R4110
NOMESCO Finland
Physiotherapy
2.7
6.4
46
217
WX408
NOMESCO Finland
General anesthesy, balanced
2.7
6.3
42
191
7555X
ICD-9 Finland
Other congenital anomalies of limbs, Other anomalies of upper limb, including shoulder girdle[MALEFORMATIONES EXTREMITATIS SUPERIORIS ALIA DEF]
+∞
6.3
6
*
Q74.88
ICD-10 Finland
Other specified congenital malformations of limb(s)
+∞
6.3
6
*
ZXA05
NOMESCO Finland
Left side
3.1
6.2
30
114
Z3226
NOMESCO Finland
Physiotherapist
2.9
6.2
35
146
ZXA00
NOMESCO Finland
Right side
2.9
6.0
34
141

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
27
115
2.67
4.50
4.5
9.3
5.92
5.60
kpa
1.10
27
110
27
117
2.62
4.35
4.1
9.4
7.38
7.38
ph
0.04
19
80
87
620
2.05
4.09
6.1
6.2
5.95
6.07
mmol/l
0.26
82
559
23
95
2.70
4.06
8.2
16.4
24.57
25.01
mmol/l
0.31
23
95
25
109
2.57
3.97
6.3
12.1
—
—
—
0
0
24
108
2.47
3.56
7.7
11.5
105.17
104.93
mmol/l
0.11
24
108
53
330
1.97
3.53
2.8
2.5
—
—
—
0
0
21
89
2.60
3.52
3.2
10.6
23.71
23.82
mmol/l
0.07
21
89
64
433
1.88
3.28
9.3
9.9
1.21
1.22
mmol/l
0.99
64
412
9
21
4.50
3.05
3.3
15.2
91.86
91.63
%
—
9
21
41
248
1.92
2.90
2.6
2.6
0.89
1.01
mg/l
0.15
36
183
43
268
1.87
2.77
3.9
3.4
7.39
7.39
ph
0.16
37
194
87
672
1.77
2.70
3.4
2.7
—
—
—
0
0
26
138
2.08
2.63
11.4
10.9
1.18
1.17
mmol/l
0.03
26
124
12
42
3.03
2.62
4.2
10.6
1.30
1.41
%
0.14
12
42
12
42
3.03
2.62
4.9
10.6
0.77
0.63
%
0.65
12
42
6
11
5.64
2.57
1.8
1.3
—
—
—
0
0
10
32
3.28
2.49
5.2
3.8
26.94
23.92
mmol/l
—
10
32
36
220
1.85
2.44
3.1
4.0
—
—
—
0
0
33
197
1.88
2.40
3.7
4.0
4.54
15.42
mg/mmol
0.99
21
126
46
308
1.73
2.30
4.4
4.0
0.00
0.01
estimate
0.50
14
114
17
81
2.25
2.23
4.6
6.2
0.40
0.42
%
—
5
26
18
88
2.20
2.23
8.8
14.6
7.40
7.43
ph
—
7
49
30
180
1.85
2.14
2.9
3.5
4.09
4.15
e6/l
0.01
15
82
71
544
1.61
2.07
2.8
3.0
—
—
estimate
—
0
0
79
622
1.61
2.06
5.0
3.9
0.00
0.00
estimate
-0.00
17
113
54
388
1.63
2.04
1.8
1.7
101.73
96.70
pmol/l
0.26
29
206
41
274
1.70
2.04
5.5
5.3
—
—
—
0
0
60
445
1.61
1.98
5.3
3.6
0.19
0.01
estimate
0.67
16
96
11
45
2.57
1.98
7.5
15.1
0.61
0.68
%
0.26
11
45
6
16
3.87
1.95
1.7
5.1
7.40
7.41
ph
—
6
16
80
637
1.59
1.95
6.9
7.6
0.04
0.04
e9/l
0.22
73
558
80
638
1.59
1.93
6.9
7.6
0.56
0.53
e9/l
0.50
73
560
30
188
1.76
1.86
4.8
2.7
516.17
553.23
mosm/kgh2o
0.33
30
165
97
815
1.61
1.83
5.6
4.5
—
—
—
0
0
11
47
2.45
1.83
8.0
14.7
1.29
1.41
%
0.21
11
47
11
47
2.45
1.83
8.0
14.6
96.43
95.12
%
0.87
11
47
42
291
1.63
1.80
2.3
2.4
2.11
2.51
mg/l
1.03
37
260
31
198
1.73
1.80
3.2
3.4
73.41
107.72
mg/l
0.28
21
134
7
24
3.01
1.74
1.3
1.1
—
—
—
0
0
5
13
3.94
1.73
3.6
7.5
—
—
—
0
0
81
661
1.53
1.68
7.4
7.5
2.05
2.21
e9/l
0.44
76
592
72
573
1.52
1.67
9.8
9.8
0.00
0.00
e9/l
0.80
61
449
77
622
1.52
1.67
5.0
3.8
0.00
0.00
estimate
-0.00
16
116
57
433
1.53
1.64
1.8
1.9
1.48
1.33
mmol/l
0.49
52
392
76
614
1.52
1.63
5.0
3.8
0.00
0.00
estimate
-0.00
17
117
11
51
2.25
1.55
7.9
12.6
23.91
24.92
mmol/l
0.32
11
51
46
337
1.54
1.54
10.2
8.1
1.14
1.10
inr
0.21
39
271
5
15
3.41
1.53
7.2
1.9
—
—
—
0
0
6
21
2.94
1.52
2.8
17.0
57.00
64.01
%
—
6
21
25
159
1.70
1.47
3.7
2.9
58.37
286.82
ng/l
0.79
16
82
47
351
1.51
1.43
4.8
3.2
0.00
0.00
estimate
-0.00
16
97
24
153
1.69
1.40
1.6
1.6
—
—
—
0
0
80
668
1.46
1.38
7.7
8.4
0.15
0.18
e9/l
1.39
73
590
16
92
1.83
1.31
3.6
1.9
6.45
6.27
ph
—
10
60
49
376
1.46
1.29
2.6
2.5
—
—
—
0
0
5
18
2.84
1.29
1.4
1.1
—
—
—
0
0
53
415
1.44
1.26
5.3
8.0
—
—
—
0
0
14
79
1.86
1.22
8.9
11.4
—
—
—
0
0
8
38
2.17
1.20
4.6
3.3
35.75
84.63
ng/l
—
8
38
39
290
1.48
1.20
4.5
3.6
1.02
1.02
kg/l
0.07
28
202
5
20
2.55
1.16
2.0
1.5
—
—
—
0
0
5
20
2.55
1.16
2.0
1.5
—
—
—
0
0
5
20
2.55
1.16
3.2
18.5
64.18
64.12
%
—
5
20
5
20
2.55
1.16
2.0
1.5
—
—
—
0
0
5
20
2.55
1.16
2.0
1.5
—
—
—
0
0
33
239
1.50
1.15
1.5
1.3
122.85
20.41
iu/ml
—
8
70
21
137
1.63
1.14
2.0
2.1
—
—
—
0
0
13
75
1.81
1.07
9.2
9.4
24.65
24.27
mmol/l
0.28
13
75
44
344
1.41
1.03
4.3
3.8
9.30
48.87
e6/l
1.38
37
253
30
218
1.48
1.03
3.5
3.2
6.79
9.11
e6/l
0.44
30
197
133
1267
1.88
1.00
13.8
9.3
—
—
—
0
0
122
1136
1.55
0.97
15.9
12.6
3.93
3.91
mmol/l
0.53
122
1109
82
715
1.35
0.96
8.1
10.7
4.00
3.83
e9/l
0.33
75
615
41
321
1.39
0.95
3.5
4.1
7.29
8.70
mmol/l
0.92
36
289
6
27
2.27
0.94
13.2
16.2
—
—
—
0
0
38
294
1.40
0.94
4.6
3.6
0.96
0.21
e6/l
0.46
31
207
6
28
2.19
0.92
1.5
2.1
21.00
28.32
ng/l
—
6
28
122
1139
1.53
0.92
15.7
12.5
139.60
139.64
mmol/l
0.10
122
1117
62
522
1.34
0.90
4.0
3.4
6.15
6.28
ph
0.55
34
294
8
43
1.91
0.89
1.4
1.8
44.50
37.26
nmol/l
—
8
43
47
381
1.35
0.87
4.6
7.4
—
—
—
0
0
6
32
1.91
0.83
9.5
5.6
36.82
36.94
°c
—
6
32
13
82
1.64
0.81
1.1
1.1
—
—
—
0
0
6
34
1.80
0.77
1.5
2.2
—
—
—
0
0
6
34
1.80
0.77
1.3
1.1
—
—
—
0
0
14
94
1.54
0.70
1.8
6.3
1.73
1.64
%
0.10
14
89
35
282
1.32
0.67
3.4
2.6
209.79
18.50
ng/l
0.48
16
123
50
426
1.27
0.63
4.7
4.6
8.54
34.88
e6/l
3.54
40
267
102
946
1.28
0.62
5.0
4.2
35.59
36.39
mmol/mol
0.75
97
911
14
97
1.49
0.61
3.3
2.9
1.76
1.36
ug/l
0.19
14
89
11
72
1.57
0.61
1.6
2.3
—
—
—
0
0
0
20
0.00
0.61
0.0
30.6
—
1788.80
—
0
20
8
52
1.57
0.60
1.8
1.6
—
—
—
0
0
8
122
0.64
0.58
2.9
2.2
—
—
—
0
0
6
36
1.70
0.57
7.3
16.9
—
—
—
0
0
129
1243
1.44
0.53
16.3
12.7
65.52
67.26
umol/l
0.28
129
1227
6
40
1.52
0.52
1.0
1.3
—
—
—
0
0
128
1233
1.41
0.51
12.6
9.8
23.95
25.60
u/l
0.79
128
1209
13
175
0.72
0.48
1.1
1.3
—
—
—
0
0
5
82
0.60
0.47
1.6
1.7
—
—
—
0
0
14
103
1.40
0.47
1.5
1.8
—
—
—
0
0
33
388
0.80
0.46
1.8
1.5
2.03
1.94
g/l
0.14
21
240
12
87
1.41
0.44
1.9
1.3
—
—
—
0
0
26
214
1.26
0.43
1.2
1.3
7.10
6.79
u/ml
—
9
86
0
18
0.00
0.40
0.0
21.9
—
929.44
—
0
18
18
144
1.29
0.37
1.7
1.7
3.46
3.49
mmol/l
0.03
11
101
13
99
1.34
0.37
2.5
1.8
—
—
—
0
0
9
125
0.70
0.37
1.8
1.3
—
—
—
0
0
6
89
0.66
0.34
1.7
1.5
—
—
—
0
0
6
90
0.65
0.34
1.7
1.6
—
—
—
0
0
8
65
1.24
0.27
1.8
5.1
88.39
69.72
e9/l
—
8
43
11
137
0.79
0.25
2.1
1.2
—
—
—
0
0
6
84
0.70
0.24
1.7
1.5
1.39
1.25
mm
—
6
65
27
238
1.17
0.24
4.0
2.7
—
—
—
0
0
17
145
1.20
0.22
1.4
1.6
—
—
—
0
0
0
11
0.00
0.21
0.0
1.7
—
7.75
—
0
11
0
12
0.00
0.21
0.0
1.3
—
0.45
—
0
12
0
12
0.00
0.21
0.0
2.6
—
1.91
—
0
12
0
13
0.00
0.21
0.0
1.2
—
—
—
0
0
0
13
0.00
0.21
0.0
1.2
—
—
—
0
0
6
48
1.26
0.20
2.0
1.7
—
—
—
0
0
0
14
0.00
0.20
0.0
1.0
—
—
—
0
0
0
14
0.00
0.20
0.0
5.4
—
8.37
—
0
6
125
1225
1.18
0.19
15.8
12.0
20.04
20.50
mg/l
0.06
108
946
6
52
1.16
0.19
1.3
1.3
—
—
—
0
0
28
253
1.13
0.18
3.5
2.7
80.24
75.56
ug/g
0.06
21
193
48
449
1.10
0.18
1.8
1.7
—
—
—
0
0
7
60
1.18
0.18
1.3
1.0
0.94
0.85
g/l
—
7
60
9
78
1.16
0.16
1.3
1.2
—
—
—
0
0
28
305
0.90
0.15
1.6
1.8
—
—
—
0
0
7
85
0.81
0.15
3.0
1.7
1.21
1.11
g/l
—
7
80
46
435
1.09
0.13
2.1
1.8
—
—
—
0
0
19
171
1.13
0.13
1.3
1.2
—
—
—
0
0
10
85
1.19
0.12
6.2
3.8
—
—
—
0
0
42
398
1.08
0.11
2.1
1.9
—
—
—
0
0
5
43
1.17
0.10
1.4
1.2
—
—
—
0
0
15
165
0.90
0.09
1.7
1.8
—
—
—
0
0
15
165
0.90
0.09
1.7
1.8
—
—
—
0
0
15
164
0.90
0.08
1.7
1.8
—
—
—
0
0
15
164
0.90
0.08
1.7
1.8
—
—
—
0
0
14
151
0.92
0.05
1.8
1.8
—
—
—
0
0
14
151
0.92
0.05
2.2
2.4
—
—
—
0
0
34
353
0.95
0.05
2.5
1.9
—
—
—
0
0
12
110
1.10
0.05
1.3
1.4
327.17
271.08
miu/ml
—
6
58
12
130
0.92
0.05
1.9
1.8
—
—
—
0
0
49
480
1.03
0.03
3.1
2.3
—
—
—
0
0
15
144
1.05
0.00
1.4
1.6
—
—
—
0
0
14
139
1.01
0.00
5.9
2.2
816.40
7891.05
u/l
—
5
54
25
246
1.02
0.00
1.6
1.7
—
—
—
0
0
13
133
0.98
0.00
1.0
1.2
—
—
—
0
0
43
427
1.01
0.00
1.4
1.4
7.00
1.53
u/ml
0.39
13
100
49
495
0.98
0.00
2.8
2.4
—
—
—
0
0
6
60
1.00
0.00
1.0
1.0
1.62
1.57
g/l
—
6
60
0
5
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.2
—
—
—
0
0
0
8
0.00
-0.00
0.0
1.0
—
25.81
—
0
8
0
8
0.00
-0.00
0.0
1.4
—
69.00
—
0
8
0
6
0.00
-0.00
0.0
1.2
—
—
—
0
0
0
5
0.00
-0.00
0.0
2.2
—
1.40
—
0
5
0
8
0.00
-0.00
0.0
1.4
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.8
—
10.40
—
0
5
0
5
0.00
-0.00
0.0
1.0
—
6.90
—
0
5
0
6
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.4
—
0.00
—
0
5
9
99
0.90
-0.00
1.8
1.5
—
—
—
0
0
0
8
0.00
-0.00
0.0
1.8
—
145.13
—
0
8
0
5
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
7
0.00
-0.00
0.0
2.6
—
—
—
0
0
8
87
0.91
-0.00
1.1
1.0
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.7
—
—
—
0
0
0
6
0.00
-0.00
0.0
2.2
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.2
—
28.17
—
0
6
0
9
0.00
-0.00
0.0
1.2
—
—
—
0
0
0
8
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
1.2
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.0
—
—
—
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
5
0.00
-0.00
0.0
1.0
—
—
—
0
0
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_OTHER_CONGEN_MUSCULOS_DEFORMITI_WIDE – Other congenital musculoskeletal deformities, including avohilmo

GWS hits: -

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