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Reduction defects of lower limb, including avohilmo

Endpoint Browser PheWeb

Q17_REDUCT_DEFECTS_LOWER_LIMB_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 — Q72
  • Hospital discharge: ICD-10 — Q72
  • Cause of death: ICD-10 — Q72

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

140

4. Check minimum number of events

None

140

5. Include endpoints

None

140

6. Filter based on genotype QC (FinnGen only)

129

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
Defectus reductionales membri inferioris

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 129 77 52
Unadjusted period prevalence (%) 0.03 0.03 0.02
Median age at first event (years) 37.48 42.87 29.50

-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
135
Matched controls
1350
Code
Vocabulary
Description
Odds Ratio
-log10(p)
N matched cases
N matched controls
Q72.88
ICD-10 Finland
Other reduction defects of lower himb(s)
+∞
63.7
56
*
Q72.9
ICD-10 Finland
Reduction defect of lower limb, unspecified
+∞
43.0
39
*
M21.7
ICD-10 Finland
Unequal limb length (acquired)
65.3
10.8
12
*
R5110, ,
SPAT
4.9
8.5
20
46
Z3231
NOMESCO Finland
Registered nurse
3.0
8.2
51
228
Q72
ICD-10 Finland
Reduction defects of lower limb
+∞
7.4
7
*
Q72.6
ICD-10 Finland
Longitudinal reduction defect of fibula
+∞
7.4
7
*
Q72.80
ICD-10 Finland
Congenital reduction deformity of toe (toes)
+∞
7.4
7
*
Q72.4
ICD-10 Finland
Longitudinal reduction defect of femur
+∞
7.4
7
*
NFU20
NOMESCO Finland
Removal of internal fixation device from femur
23.9
6.8
9
*
Z3226
NOMESCO Finland
Physiotherapist
3.0
6.5
34
136
Z3229
NOMESCO Finland
Other healthcare associate professional
4.0
6.3
19
53
L82
ICPC
Congenital anomaly musculoskeletal
+∞
6.3
6
*
Q72.3
ICD-10 Finland
Congenital absence of foot and toe(s)
+∞
6.3
6
*
N06AX21
ATC
duloxetine; oral
3.3
6.2
26
91

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
81
543
2.23
4.86
7.3
7.1
0.70
0.67
%
0.17
75
508
81
548
2.20
4.69
7.2
6.9
2.91
2.74
%
0.25
75
516
81
549
2.19
4.66
7.2
7.1
8.86
8.45
%
0.70
76
520
82
561
2.18
4.57
6.9
6.8
55.69
57.69
%
0.76
77
539
52
299
2.20
4.50
1.6
1.8
—
—
—
0
0
45
245
2.26
4.44
1.9
2.1
1.37
1.08
mg/l
0.32
33
190
38
197
2.29
4.18
1.6
1.6
—
—
—
0
0
81
569
2.06
4.01
7.1
6.9
29.45
28.09
%
0.56
76
545
83
590
2.06
3.96
7.0
6.9
0.56
0.55
e9/l
0.19
71
515
83
592
2.04
3.90
7.0
6.9
0.04
0.04
e9/l
0.49
71
515
16
55
3.17
3.89
2.1
3.7
—
—
—
0
0
85
616
2.03
3.76
7.1
7.3
0.18
0.18
e9/l
0.09
77
550
34
177
2.23
3.67
1.6
1.5
228.57
616.59
titre
—
7
41
36
194
2.17
3.57
1.7
1.7
444.34
453.71
pmol/l
0.08
29
166
26
124
2.36
3.42
1.5
1.4
—
—
—
0
0
83
616
1.90
3.22
7.1
6.9
1.86
1.85
e9/l
0.07
74
556
22
102
2.38
3.07
1.9
2.2
10.46
9.87
g/l
0.26
22
95
48
309
1.86
2.83
2.1
1.5
16.69
20.67
nmol/l
1.76
40
268
54
362
1.82
2.79
2.1
2.3
—
—
—
0
0
64
461
1.74
2.54
3.0
2.0
96.89
97.65
pmol/l
0.06
35
234
28
156
2.00
2.50
2.0
1.6
785.11
1094.46
nmol/l
1.85
22
121
12
46
2.77
2.43
8.7
5.2
—
—
—
0
0
12
47
2.70
2.34
1.1
1.4
—
—
—
0
0
24
131
2.01
2.26
2.1
1.7
—
—
—
0
0
6
14
4.43
2.17
1.3
2.3
9.17
9.79
mmol/l
—
6
14
53
377
1.67
2.12
7.4
6.7
—
—
—
0
0
72
557
1.63
2.05
3.8
2.7
—
—
estimate
—
0
0
48
338
1.65
1.97
3.1
2.6
45.06
69.17
u/l
1.12
48
320
23
130
1.93
1.97
1.4
1.4
—
—
—
0
0
14
65
2.29
1.96
1.1
1.1
—
—
—
0
0
26
154
1.85
1.94
2.4
2.0
—
—
—
0
0
27
164
1.81
1.86
2.6
3.1
3.82
4.60
e9/l
1.23
21
151
5
12
4.28
1.84
1.4
1.4
22.64
28.80
ng/l
—
5
12
5
12
4.28
1.84
2.6
2.7
21.14
15.68
mu/l
—
5
12
19
103
1.98
1.83
6.5
5.8
0.08
0.46
%
—
6
28
61
464
1.57
1.80
6.0
5.2
37.27
36.57
g/l
0.53
54
449
51
372
1.60
1.80
3.7
2.2
—
—
—
0
0
82
668
1.58
1.79
8.4
11.4
3.87
4.01
e9/l
0.24
72
587
40
277
1.63
1.73
3.9
4.1
—
—
—
0
0
16
83
2.05
1.73
1.7
1.9
1.68
1.41
g/l
0.22
16
77
24
144
1.81
1.72
3.5
2.6
24.05
24.73
%
0.10
24
138
14
69
2.15
1.71
7.7
4.3
7.41
7.42
ph
0.33
14
59
6
19
3.25
1.68
1.0
1.2
—
—
—
0
0
10
43
2.43
1.63
1.1
1.6
—
—
—
0
0
69
549
1.53
1.62
11.3
10.7
0.00
0.00
e9/l
0.62
56
450
38
264
1.61
1.61
3.1
3.3
325.44
333.12
umol/l
0.11
27
238
14
72
2.05
1.55
6.3
4.3
79.14
64.87
ng/l
0.34
14
65
30
199
1.65
1.52
5.2
3.5
267.06
163.58
ng/l
0.22
18
140
125
1153
2.14
1.52
21.6
14.3
23.77
22.63
mg/l
0.16
104
918
23
142
1.75
1.51
10.9
6.3
105.70
104.40
mmol/l
0.77
23
142
60
470
1.50
1.48
11.7
10.3
1.08
1.16
inr
1.19
50
384
44
323
1.54
1.47
1.6
1.5
2.18
2.07
g/l
0.21
32
198
6
22
2.80
1.45
12.2
4.2
7.39
7.41
ph
—
6
22
12
214
0.52
1.36
1.2
1.7
—
—
—
0
0
66
535
1.46
1.34
11.8
7.1
1.22
1.21
mmol/l
0.59
59
473
44
331
1.49
1.30
4.3
2.9
—
—
—
0
0
24
157
1.64
1.28
3.6
2.5
2.37
2.33
g/l
0.12
24
148
22
141
1.67
1.27
1.8
2.0
—
—
—
0
0
11
56
2.05
1.26
1.4
1.7
—
—
—
0
0
36
473
0.67
1.20
2.3
2.8
—
—
—
0
0
12
65
1.93
1.17
29.0
6.8
25.48
24.99
mmol/l
0.16
12
65
25
171
1.57
1.13
3.4
2.5
13.41
14.23
umol/l
0.26
25
160
16
97
1.74
1.12
1.1
1.3
81.40
109.98
u/ml
—
5
28
11
60
1.91
1.06
1.5
1.7
—
—
—
0
0
14
83
1.77
1.06
1.6
1.6
0.12
0.32
mg/l
—
6
30
47
371
1.41
1.06
1.7
3.4
2.34
2.35
mmol/l
0.25
38
342
17
107
1.67
1.06
2.8
2.1
0.00
0.00
estimate
—
5
29
17
107
1.67
1.06
5.9
5.0
1.62
1.04
%
—
8
37
7
34
2.12
1.04
3.3
2.4
25.27
24.71
mmol/l
—
7
34
16
100
1.68
1.02
6.1
5.3
0.17
0.17
%
—
6
29
15
92
1.71
1.02
23.0
10.2
—
—
—
0
0
19
125
1.61
1.00
1.5
1.4
—
—
—
0
0
16
101
1.66
0.99
4.5
4.9
0.43
0.90
%
—
7
31
0
31
0.00
0.97
0.0
2.9
—
—
—
0
0
58
480
1.37
0.97
12.5
6.7
1.22
1.21
mmol/l
0.21
53
449
126
1195
1.82
0.95
17.9
12.0
—
—
—
0
0
31
232
1.44
0.92
1.9
2.0
—
—
—
0
0
6
29
2.12
0.90
1.0
1.4
—
—
—
0
0
8
42
1.96
0.90
1.6
1.3
—
—
—
0
0
8
42
1.96
0.90
1.4
1.2
—
—
—
0
0
21
147
1.51
0.87
1.8
1.3
—
—
—
0
0
6
31
1.98
0.85
13.7
3.7
10.30
8.81
kpa
—
6
31
48
396
1.33
0.80
4.4
3.0
6.78
8.50
mmol/l
1.74
40
344
40
322
1.34
0.78
3.3
3.2
—
—
—
0
0
15
100
1.56
0.76
11.2
4.6
1.40
2.02
mmol/l
0.30
15
81
15
100
1.56
0.76
2.3
2.6
—
17.09
—
0
7
69
602
1.30
0.76
6.4
7.4
10.75
11.17
umol/l
0.16
69
580
20
143
1.47
0.75
2.8
2.5
0.55
0.81
ug/l
0.93
11
78
9
56
1.65
0.74
3.8
3.1
1.04
1.33
%
—
9
56
19
135
1.47
0.74
1.5
1.1
—
—
—
0
0
17
118
1.50
0.73
4.0
3.6
1.89
1.93
%
0.07
17
110
5
25
2.04
0.73
1.0
1.1
—
—
—
0
0
40
325
1.33
0.73
3.9
3.3
33.62
60.34
mg/l
0.73
25
210
28
216
1.37
0.71
1.5
1.3
7.41
5.57
u/ml
—
9
80
46
386
1.29
0.67
1.8
1.7
—
—
—
0
0
40
331
1.30
0.64
4.3
3.8
6.58
10.12
mg/mmol
0.35
22
209
8
52
1.57
0.60
1.3
1.8
—
—
—
0
0
0
21
0.00
0.60
0.0
1.2
—
—
—
0
0
43
362
1.28
0.60
1.5
1.4
0.93
1.99
u/ml
0.70
13
90
8
54
1.51
0.58
2.0
2.1
—
—
—
0
0
6
36
1.70
0.57
1.3
1.2
—
—
—
0
0
6
36
1.70
0.57
2.0
3.6
1.30
1.48
mmol/l
—
6
36
41
479
0.79
0.56
5.4
3.5
0.00
0.01
estimate
0.50
18
114
6
37
1.65
0.56
1.5
1.5
—
—
—
0
0
96
892
1.26
0.56
5.4
4.5
14.79
14.71
pmol/l
0.11
90
812
6
97
0.60
0.54
13.3
3.5
—
—
—
0
0
29
235
1.30
0.54
1.4
1.3
11.40
29.41
iu/ml
—
5
66
9
63
1.46
0.53
17.2
5.0
24.22
24.63
mmol/l
—
9
63
112
1064
1.31
0.51
3.9
3.8
1.33
1.25
mmol/l
0.48
101
993
15
110
1.41
0.51
13.5
8.5
7.43
7.43
ph
—
10
69
26
210
1.29
0.50
2.1
2.4
2.42
2.44
mmol/l
0.63
13
188
7
45
1.59
0.50
1.6
1.7
—
5.45
—
0
11
16
120
1.38
0.49
1.3
1.4
—
—
—
0
0
40
343
1.24
0.48
6.7
4.3
7.40
7.40
ph
0.11
31
238
7
48
1.48
0.47
2.3
4.9
37.06
36.90
°c
—
7
48
7
51
1.39
0.45
3.0
4.8
—
—
—
0
0
5
32
1.58
0.42
32.4
6.9
1.52
1.37
mg/l
—
5
32
0
15
0.00
0.41
0.0
1.7
—
—
—
0
0
28
330
0.81
0.41
6.8
3.1
0.13
0.29
e6/l
0.62
18
247
11
147
0.73
0.40
1.0
1.3
—
—
—
0
0
112
1074
1.25
0.39
6.6
5.4
1.67
1.79
mu/l
0.60
107
1000
9
69
1.33
0.38
19.8
10.7
95.92
95.25
%
—
9
69
9
70
1.31
0.37
20.0
10.4
1.08
0.62
%
—
9
70
14
108
1.33
0.37
1.1
1.5
—
—
—
0
0
14
110
1.30
0.33
1.1
1.5
—
—
—
0
0
14
111
1.29
0.31
1.1
1.5
—
—
—
0
0
7
55
1.29
0.30
14.3
11.6
17.31
16.24
%
—
7
55
7
55
1.29
0.30
4.3
3.1
0.44
0.63
%
—
7
55
10
76
1.34
0.29
1.6
1.8
—
—
—
0
0
48
439
1.14
0.27
2.5
1.9
—
—
—
0
0
9
72
1.27
0.26
20.0
10.2
1.59
1.28
%
—
9
72
11
87
1.29
0.25
1.2
1.4
—
—
—
0
0
13
106
1.25
0.24
1.2
1.5
—
—
—
0
0
11
88
1.27
0.23
1.2
1.6
—
—
—
0
0
110
1069
1.16
0.22
5.6
4.4
5.95
5.78
mmol/l
0.42
103
985
0
11
0.00
0.21
0.0
1.1
—
0.17
—
0
6
0
11
0.00
0.21
0.0
12.9
—
0.59
—
0
11
0
11
0.00
0.21
0.0
1.5
—
—
—
0
0
0
10
0.00
0.21
0.0
2.3
—
256.30
—
0
10
0
12
0.00
0.21
0.0
1.3
—
0.49
—
0
7
0
13
0.00
0.21
0.0
1.1
—
—
—
0
0
0
13
0.00
0.21
0.0
1.2
—
29.11
—
0
13
0
13
0.00
0.21
0.0
18.8
—
1490.23
—
0
13
116
1133
1.17
0.20
5.9
5.1
2.75
2.72
mmol/l
0.12
108
1066
10
81
1.25
0.19
1.2
1.2
—
—
—
0
0
38
351
1.11
0.18
6.2
6.5
—
—
—
0
0
13
111
1.19
0.16
1.2
1.5
—
—
—
0
0
48
508
0.91
0.15
4.3
3.5
6.50
6.18
ph
1.14
24
277
115
1129
1.13
0.14
5.0
4.6
4.61
4.62
mmol/l
0.03
108
1063
10
85
1.19
0.12
1.2
1.2
—
—
—
0
0
114
1121
1.11
0.12
4.9
4.5
1.43
1.45
mmol/l
0.20
106
1051
65
629
1.06
0.10
5.1
3.8
0.00
0.00
estimate
-0.00
19
136
23
214
1.09
0.09
2.7
2.3
85.13
89.51
ug/g
0.06
15
161
66
642
1.05
0.08
5.5
3.9
0.00
0.00
estimate
-0.00
19
130
6
72
0.83
0.08
1.8
3.4
—
—
—
0
0
33
346
0.94
0.07
5.8
3.8
0.00
0.00
estimate
-0.00
18
129
30
285
1.07
0.07
7.3
5.2
—
—
—
0
0
11
99
1.12
0.06
17.8
6.9
120.18
123.23
g/l
0.16
11
99
65
637
1.04
0.04
5.5
3.8
0.00
11.85
estimate
0.50
18
137
37
358
1.05
0.04
3.9
3.0
—
0.00
—
0
6
11
101
1.10
0.04
2.4
1.9
6.42
5.99
ph
—
6
67
14
131
1.08
0.03
2.3
1.9
408.86
377.29
nmol/l
0.36
14
124
19
199
0.95
0.03
13.7
3.6
0.79
0.81
mmol/l
0.51
19
189
11
104
1.06
0.01
17.5
8.8
97.95
96.71
%
1.19
11
104
15
144
1.05
0.00
1.7
1.2
—
—
—
0
0
36
359
1.00
0.00
5.7
3.0
0.00
0.00
estimate
-0.00
17
107
45
445
1.02
0.00
6.2
4.1
19.97
25.35
e6/l
0.20
26
308
38
385
0.98
0.00
5.6
3.3
18.98
41.45
e6/l
0.71
26
298
39
394
0.99
0.00
4.9
3.3
16.51
32.56
ng/l
1.36
25
255
6
67
0.89
0.00
1.3
1.5
—
—
—
0
0
0
9
0.00
0.00
0.0
1.2
—
—
—
0
0
0
9
0.00
0.00
0.0
1.4
—
—
—
0
0
24
240
1.00
-0.00
4.7
4.6
1.89
1.79
ug/l
0.08
19
210
5
54
0.92
-0.00
2.8
2.1
—
—
—
0
0
0
7
0.00
-0.00
0.0
1.3
—
—
—
0
0
5
52
0.96
-0.00
1.0
1.2
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.0
—
44.00
—
0
5
0
6
0.00
-0.00
0.0
2.0
—
0.60
—
0
6
0
7
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
5
0.00
-0.00
0.0
2.8
—
—
—
0
0
0
8
0.00
-0.00
0.0
1.9
—
0.49
—
0
8
0
5
0.00
-0.00
0.0
1.0
—
—
—
0
0
5
53
0.94
-0.00
1.0
1.1
0.88
0.89
g/l
—
5
53
6
61
0.98
-0.00
6.2
6.7
26.25
24.71
mmol/l
—
6
61
0
7
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
7
0.00
-0.00
0.0
2.0
—
25.43
—
0
7
0
5
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
7
0.00
-0.00
0.0
1.6
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.3
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.2
—
153.67
—
0
6
0
5
0.00
-0.00
0.0
1.0
—
32.20
—
0
5
5
51
0.98
-0.00
1.0
1.1
1.30
1.51
g/l
—
5
51

Mortality – FinRegistry

↥

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

Relationships between endpoints

↥

Index endpoint: Q17_REDUCT_DEFECTS_LOWER_LIMB_WIDE – Reduction defects of lower limb, including avohilmo

GWS hits: -

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