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Other congenital musculoskeletal deformities

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

519972

1. Apply sex-specific rule

None

519972

2. Check conditions

None

519972

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.

139

4. Check minimum number of events

None

139

5. Include endpoints

None

139

6. Filter based on genotype QC (FinnGen only)

131

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

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 131 92 39
Unadjusted period prevalence (%) 0.03 0.03 0.02
Median age at first event (years) 16.31 17.00 14.68

-FinnGen-

Age distribution of first events

-FinnGen-

Year distribution of first events

-FinnGen-

Cumulative Incidence Function

Not a core endpoint, no data to show.

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
139
Matched controls
1390
Code
Vocabulary
Description
Odds Ratio
-log10(p)
N matched cases
N matched controls
Q68.8
ICD-10 Finland
Other specified congenital musculoskeletal deformities
+∞
57.3
51
*
Q68.1
ICD-10 Finland
Congenital deformity of hand
+∞
46.5
42
*
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
84.4
7.5
8
*
ZXE10
NOMESCO Finland
More than one and less than three hours
2.7
7.2
54
263
WX408
NOMESCO Finland
General anesthesy, balanced
2.8
6.5
42
189
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
ZXA00
NOMESCO Finland
Right side
2.9
6.1
34
140
ZXD10
NOMESCO Finland
Scheduled procedure
2.5
6.1
56
298

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
9
18
5.27
3.43
2.1
15.5
—
—
—
0
0
13
38
3.67
3.42
4.2
11.1
127.23
129.82
g/l
0.17
13
38
77
554
1.87
3.26
5.4
5.6
5.88
6.08
mmol/l
0.46
71
492
19
80
2.59
3.23
8.3
14.9
24.27
24.59
mmol/l
0.20
19
80
18
75
2.61
3.12
2.6
10.9
23.39
23.67
mmol/l
0.17
18
75
20
90
2.43
2.97
6.4
10.5
—
—
—
0
0
78
577
1.80
2.90
3.1
2.5
—
—
—
0
0
46
295
1.84
2.71
2.7
2.5
—
—
—
0
0
23
117
2.16
2.59
11.4
11.1
1.18
1.19
mmol/l
0.03
23
108
55
380
1.74
2.50
8.8
9.5
1.21
1.22
mmol/l
0.64
55
358
36
221
1.85
2.41
2.7
2.5
0.99
0.72
mg/l
0.55
31
157
92
743
1.70
2.27
4.9
4.2
—
—
—
0
0
26
147
1.95
2.22
3.5
3.8
0.87
23.04
mg/mmol
1.97
15
95
29
171
1.88
2.19
4.3
2.7
530.24
568.16
mosm/kgh2o
0.32
29
143
74
570
1.64
2.15
6.0
6.9
0.04
0.04
e9/l
0.35
68
499
74
571
1.63
2.13
6.0
6.9
0.55
0.54
e9/l
0.24
68
501
27
157
1.89
2.12
2.8
3.4
4.08
4.26
e6/l
0.04
15
79
9
31
3.03
2.11
9.8
26.2
—
—
—
0
0
9
31
3.03
2.11
3.9
12.3
0.83
0.66
%
—
9
31
9
31
3.03
2.11
5.4
3.5
26.90
23.95
mmol/l
—
9
31
43
291
1.69
2.05
9.2
8.4
1.14
1.08
inr
0.21
14
86
9
33
2.84
1.97
3.9
11.7
0.96
1.48
%
—
9
33
35
226
1.73
1.96
4.0
3.4
7.39
7.41
ph
—
10
32
5
11
4.67
1.96
2.0
2.1
—
—
—
0
0
23
133
1.87
1.84
1.5
1.6
—
—
—
0
0
5
12
4.28
1.84
1.4
7.2
—
—
—
0
0
16
81
2.10
1.83
7.1
10.9
105.94
104.86
mmol/l
1.05
16
81
66
516
1.53
1.68
8.2
8.5
0.00
0.00
e9/l
0.50
56
401
14
70
2.11
1.66
4.5
5.7
0.40
0.42
%
—
5
26
40
281
1.59
1.62
1.7
1.6
103.36
97.34
pmol/l
0.24
22
146
37
255
1.61
1.62
4.0
3.6
0.96
0.19
e6/l
0.47
31
185
35
239
1.62
1.58
4.0
3.6
1.02
1.02
kg/l
—
6
31
65
512
1.51
1.57
4.6
3.7
0.00
0.00
estimate
-0.00
12
92
59
456
1.51
1.55
4.7
6.3
11.22
13.09
umol/l
0.25
53
428
21
125
1.80
1.54
2.0
2.0
—
—
—
0
0
5
15
3.42
1.53
7.0
1.9
—
—
—
0
0
130
1211
2.13
1.53
12.1
8.5
—
—
—
0
0
64
505
1.50
1.52
6.4
5.0
0.00
0.00
estimate
-0.00
12
95
85
711
1.50
1.51
8.0
6.5
79.92
81.07
u/l
0.07
80
670
73
596
1.47
1.44
6.9
7.8
0.16
0.18
e9/l
0.49
68
524
36
255
1.56
1.39
4.4
4.0
0.00
0.01
estimate
0.50
11
95
64
512
1.46
1.39
4.5
3.6
0.00
0.00
estimate
-0.00
13
99
40
292
1.52
1.35
3.8
3.7
147.79
53.48
e6/l
0.30
34
220
14
77
1.91
1.31
8.8
11.1
—
—
—
0
0
12
63
1.99
1.27
4.4
2.1
—
—
—
0
0
65
530
1.43
1.24
6.3
7.6
—
—
—
0
0
39
290
1.48
1.20
4.5
3.3
—
—
—
0
0
21
135
1.65
1.20
3.6
2.8
68.54
322.68
ng/l
0.76
13
72
6
26
2.36
1.20
13.0
16.2
—
—
—
0
0
27
186
1.56
1.18
3.0
3.1
7.00
6.66
e6/l
0.05
27
165
22
144
1.63
1.17
3.1
3.3
56.92
164.62
mg/l
0.85
12
97
36
265
1.48
1.16
3.4
3.5
—
—
—
0
0
8
40
2.06
1.14
5.6
2.0
—
—
—
0
0
27
189
1.53
1.10
3.3
3.8
—
—
—
0
0
7
34
2.11
1.04
9.1
12.3
96.10
94.83
%
—
7
34
7
34
2.11
1.04
9.1
12.3
0.60
0.75
%
—
7
34
7
34
2.11
1.04
9.1
12.3
1.34
1.61
%
—
7
34
5
22
2.32
1.04
1.4
1.0
—
—
—
0
0
41
319
1.40
0.99
2.8
2.3
—
—
—
0
0
6
27
2.28
0.94
1.5
1.9
—
—
—
0
0
45
359
1.37
0.93
3.9
4.3
80.42
45.33
e6/l
0.20
36
224
18
120
1.57
0.91
2.4
2.5
2.66
2.59
g/l
0.19
18
114
6
29
2.12
0.90
1.5
2.8
—
—
—
0
0
76
661
1.33
0.89
7.5
9.8
3.92
3.87
e9/l
0.08
71
569
32
244
1.40
0.86
3.2
2.6
237.44
21.40
ng/l
0.47
14
105
12
74
1.68
0.81
9.8
9.3
24.62
24.36
mmol/l
0.17
12
74
6
33
1.85
0.80
1.3
2.2
—
—
—
0
0
10
59
1.75
0.78
1.1
1.1
—
—
—
0
0
6
34
1.80
0.77
10.5
10.9
22.83
24.56
mmol/l
—
6
34
6
34
1.80
0.77
1.2
1.7
50.67
36.94
nmol/l
—
6
34
11
169
0.62
0.75
1.1
1.2
—
—
—
0
0
13
89
1.51
0.60
1.4
1.7
—
—
—
0
0
6
36
1.70
0.57
7.3
16.9
—
—
—
0
0
89
818
1.24
0.56
4.5
3.7
36.09
36.86
mmol/mol
0.56
84
782
12
82
1.51
0.56
3.3
2.6
1.99
1.43
ug/l
0.25
12
73
12
82
1.51
0.56
1.8
1.3
—
—
—
0
0
6
39
1.56
0.53
1.0
1.3
—
—
—
0
0
9
63
1.46
0.53
1.8
2.4
—
—
—
0
0
120
1149
1.32
0.49
13.5
10.5
15.83
19.82
mg/l
1.06
97
837
134
1308
1.68
0.47
19.2
15.6
134.97
135.91
g/l
0.37
134
1297
134
1308
1.68
0.47
19.1
15.6
6.86
6.78
e9/l
0.17
134
1278
134
1307
1.70
0.47
19.1
15.5
88.78
88.90
fl
0.10
134
1296
134
1307
1.70
0.47
19.1
15.5
29.65
29.79
pg
0.39
134
1295
134
1307
1.70
0.47
19.1
15.5
4.58
4.58
e12/l
0.03
134
1279
134
1305
1.75
0.47
19.3
15.6
268.72
262.32
e9/l
0.50
134
1277
134
1305
1.75
0.47
19.3
15.9
40.08
40.43
%
0.34
128
1248
34
289
1.23
0.43
5.2
8.9
—
—
—
0
0
5
32
1.58
0.42
1.2
1.2
—
—
—
0
0
29
342
0.81
0.42
1.7
1.4
1.79
1.93
g/l
0.27
17
209
0
15
0.00
0.41
0.0
1.1
—
—
—
0
0
0
16
0.00
0.41
0.0
1.4
—
—
—
0
0
7
101
0.68
0.41
2.9
2.2
—
—
—
0
0
0
17
0.00
0.41
0.0
32.0
—
1766.76
—
0
17
0
17
0.00
0.41
0.0
1.2
—
—
—
0
0
0
17
0.00
0.41
0.0
19.7
—
914.41
—
0
17
43
380
1.19
0.38
2.5
2.0
—
—
—
0
0
9
71
1.29
0.37
1.3
1.2
—
—
—
0
0
5
77
0.64
0.37
1.6
1.7
—
—
—
0
0
22
182
1.25
0.36
4.3
2.9
—
—
—
0
0
11
82
1.37
0.35
1.8
6.4
1.78
1.56
%
0.23
11
77
28
242
1.20
0.31
3.9
3.4
—
—
—
0
0
25
215
1.20
0.29
3.2
2.5
92.39
81.31
ug/g
0.13
18
163
22
187
1.21
0.29
1.4
1.3
89.97
21.50
iu/ml
—
8
61
43
389
1.15
0.28
1.9
1.8
—
—
—
0
0
5
72
0.68
0.27
1.8
1.4
—
—
—
0
0
5
72
0.68
0.27
1.8
1.4
—
—
—
0
0
5
74
0.66
0.26
3.2
1.6
1.36
1.10
g/l
—
5
69
5
74
0.66
0.26
1.8
1.5
—
—
—
0
0
43
391
1.14
0.26
1.7
1.7
—
—
—
0
0
119
1158
1.19
0.25
11.2
8.3
23.75
25.60
u/l
0.80
119
1124
22
250
0.86
0.22
1.6
1.7
—
—
—
0
0
0
11
0.00
0.21
0.0
2.1
—
1.87
—
0
11
0
11
0.00
0.21
0.0
1.2
—
—
—
0
0
0
10
0.00
0.21
0.0
1.0
—
—
—
0
0
0
12
0.00
0.21
0.0
1.3
—
—
—
0
0
0
13
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
1.2
—
—
—
0
0
0
14
0.00
0.20
0.0
1.2
—
33.52
—
0
14
0
14
0.00
0.20
0.0
1.1
—
—
—
0
0
12
100
1.22
0.19
1.4
1.4
—
—
—
0
0
8
69
1.17
0.17
1.4
1.4
—
—
—
0
0
9
79
1.15
0.15
6.0
3.7
—
—
—
0
0
8
98
0.81
0.14
1.8
1.3
—
—
—
0
0
17
151
1.14
0.14
1.3
1.1
—
—
—
0
0
37
350
1.08
0.10
1.9
1.8
—
—
—
0
0
46
441
1.06
0.09
2.5
2.2
—
—
—
0
0
6
55
1.09
0.09
1.5
4.9
97.85
68.39
e9/l
—
6
39
13
117
1.12
0.08
6.1
2.2
816.40
4963.43
u/l
—
5
46
11
123
0.89
0.08
2.0
1.2
—
—
—
0
0
39
374
1.06
0.07
1.3
1.4
8.81
1.69
u/ml
—
10
85
13
118
1.11
0.07
1.0
1.2
—
—
—
0
0
13
119
1.10
0.06
1.2
1.5
—
—
—
0
0
13
120
1.09
0.05
1.5
1.6
—
—
—
0
0
31
302
1.03
0.02
2.2
1.8
—
—
—
0
0
10
107
0.93
0.02
1.9
1.9
—
—
—
0
0
13
136
0.95
0.00
1.7
1.8
—
—
—
0
0
13
136
0.95
0.00
1.7
1.8
—
—
—
0
0
12
124
0.96
0.00
1.8
1.8
—
—
—
0
0
18
179
1.01
0.00
1.2
1.3
10.08
7.09
u/ml
—
6
78
13
133
0.98
0.00
1.7
1.8
—
—
—
0
0
21
213
0.98
0.00
1.6
1.6
—
—
—
0
0
13
135
0.96
0.00
1.7
1.8
—
—
—
0
0
8
89
0.89
0.00
1.6
1.4
—
—
—
0
0
0
9
0.00
0.00
0.0
2.1
—
37833.33
—
0
9
0
9
0.00
0.00
0.0
1.4
—
—
—
0
0
0
9
0.00
0.00
0.0
1.8
—
6.70
—
0
9
0
7
0.00
-0.00
0.0
2.6
—
—
—
0
0
0
5
0.00
-0.00
0.0
2.4
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.7
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.0
—
34.17
—
0
6
0
7
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.0
—
—
—
0
0
13
130
1.00
-0.00
1.9
2.3
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.2
—
20.26
—
0
5
0
6
0.00
-0.00
0.0
1.2
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.7
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.2
—
—
—
0
0
0
5
0.00
-0.00
0.0
2.6
—
—
—
0
0
6
65
0.92
-0.00
9.8
2.9
—
—
—
0
0
0
8
0.00
-0.00
0.0
1.4
—
—
—
0
0
0
8
0.00
-0.00
0.0
1.0
—
—
—
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
6
0.00
-0.00
0.0
1.5
—
—
—
0
0
0
8
0.00
-0.00
0.0
3.1
—
—
—
0
0
0
7
0.00
-0.00
0.0
2.1
—
—
—
0
0
0
5
0.00
-0.00
0.0
9.0
—
—
—
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
5
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.0
—
6.90
—
0
5
0
5
0.00
-0.00
0.0
1.8
—
162.20
—
0
5
0
6
0.00
-0.00
0.0
1.0
—
33.27
—
0
6
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
1.2
—
—
—
0
0
0
8
0.00
-0.00
0.0
1.4
—
69.00
—
0
8

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

GWS hits: -

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