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Reduction defects of lower limb

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

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

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

131

4. Check minimum number of events

None

131

5. Include endpoints

None

131

6. Filter based on genotype QC (FinnGen only)

125

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 125 75 50
Unadjusted period prevalence (%) 0.03 0.03 0.02
Median age at first event (years) 35.65 41.96 26.18

-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
131
Matched controls
1310
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)
+∞
62.6
55
*
Q72.9
ICD-10 Finland
Reduction defect of lower limb, unspecified
+∞
40.8
37
*
M21.7
ICD-10 Finland
Unequal limb length (acquired)
65.5
10.8
12
*
R5110, ,
SPAT
9.6
8.6
17
20
Z3231
NOMESCO Finland
Registered nurse
3.0
8.2
50
222
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
*
Q72
ICD-10 Finland
Reduction defects of lower limb
+∞
7.4
7
*
Z3229
NOMESCO Finland
Other healthcare associate professional
4.3
6.8
19
50
NFU20
NOMESCO Finland
Removal of internal fixation device from femur
24.0
6.8
9
*
N02AX02
ATC
tramadol; systemic, rectal
2.6
6.7
56
288
R5140, ,
SPAT
+∞
6.3
6
*
R5110
NOMESCO Finland
Evaluation of the need for aids, the testing, fitting and choice of the aid, instruction in use and delivery of it
3.6
6.2
23
74
R52.2
ICD-10 Finland
Other chronic pain
7.3
6.2
14
21
L17
ICPC
Foot/toe symptom/complaint
2.6
6.2
50
251

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
42
205
2.54
5.44
1.8
2.3
1.44
0.85
mg/l
1.04
31
154
36
171
2.52
4.88
1.5
1.6
—
—
—
0
0
72
470
2.18
4.58
6.8
6.5
0.67
0.66
%
0.07
66
437
74
489
2.18
4.56
6.7
6.3
3.06
2.72
%
0.55
68
459
74
493
2.15
4.42
6.9
6.6
8.62
8.18
%
0.55
69
465
47
270
2.16
4.04
1.6
1.7
—
—
—
0
0
25
109
2.60
3.99
1.6
1.4
—
—
—
0
0
75
516
2.06
3.96
6.3
6.3
0.04
0.04
e9/l
0.88
64
452
75
516
2.06
3.96
6.2
6.3
0.58
0.55
e9/l
0.44
64
453
77
535
2.07
3.96
6.4
6.8
0.19
0.18
e9/l
0.30
70
477
74
508
2.05
3.92
6.3
6.1
56.11
57.25
%
0.32
69
481
74
516
2.00
3.67
6.8
6.2
28.31
28.59
%
0.08
69
488
29
144
2.30
3.50
1.9
1.6
782.80
1067.43
nmol/l
1.74
23
113
29
145
2.28
3.44
1.5
1.4
253.33
573.79
titre
—
6
29
32
170
2.17
3.28
1.7
1.6
450.12
460.34
pmol/l
0.08
26
145
13
40
3.49
3.25
8.0
5.6
—
—
—
0
0
69
484
1.90
3.23
7.7
6.8
—
—
—
0
0
75
543
1.89
3.16
6.5
6.2
1.88
1.87
e9/l
0.05
67
490
53
349
1.87
2.95
2.8
1.9
96.74
96.35
pmol/l
0.03
29
166
13
48
2.90
2.81
2.2
3.7
—
—
—
0
0
56
382
1.81
2.75
4.6
4.9
36.89
36.40
g/l
0.27
45
366
11
35
3.33
2.72
1.0
1.5
—
—
—
0
0
38
231
1.91
2.67
3.5
4.0
—
—
—
0
0
76
576
1.76
2.55
6.3
4.3
6.59
6.45
mmol/l
0.21
70
524
18
84
2.32
2.48
1.8
2.3
10.15
9.85
g/l
0.10
18
77
22
114
2.12
2.38
2.1
1.7
—
—
—
0
0
35
215
1.86
2.36
1.7
1.4
17.32
21.56
nmol/l
1.55
27
184
6
14
4.44
2.17
1.0
1.1
—
—
—
0
0
12
49
2.60
2.17
1.1
1.1
—
—
—
0
0
66
496
1.67
2.17
8.4
8.5
0.00
0.00
e9/l
0.71
55
404
41
273
1.73
2.10
1.4
1.4
2.14
2.09
g/l
0.09
29
174
48
334
1.69
2.10
2.2
2.1
—
—
—
0
0
15
70
2.29
2.07
1.5
2.0
1.66
1.44
g/l
0.16
15
65
61
454
1.64
2.05
11.2
6.5
1.23
1.21
mmol/l
1.02
55
395
35
227
1.74
1.95
2.9
3.2
323.46
4357.73
umol/l
1.05
24
201
43
296
1.67
1.94
4.2
2.8
—
—
—
0
0
56
413
1.62
1.93
11.7
6.1
1.22
1.21
mmol/l
0.46
51
382
16
80
2.14
1.89
5.4
5.1
0.08
0.38
%
—
6
24
23
134
1.87
1.81
2.2
1.9
—
—
—
0
0
16
82
2.08
1.78
4.1
4.2
—
—
—
0
0
89
743
1.62
1.77
6.0
4.1
10.63
10.67
mm/h
0.01
84
685
17
90
2.02
1.75
5.2
4.8
1.63
1.06
%
—
8
35
76
613
1.57
1.74
7.8
9.9
3.86
4.01
e9/l
0.23
67
534
16
83
2.06
1.73
5.4
5.0
0.17
0.22
%
—
6
27
28
179
1.72
1.63
1.3
1.3
7.42
6.50
u/ml
—
9
71
43
314
1.55
1.48
1.7
3.4
2.31
2.35
mmol/l
0.80
33
280
15
81
1.96
1.47
4.2
4.8
0.50
0.78
%
—
6
27
43
315
1.54
1.46
3.8
2.0
—
—
—
0
0
28
185
1.65
1.45
1.3
1.3
11.40
23.77
iu/ml
—
5
52
9
175
0.48
1.42
1.1
1.6
—
—
—
0
0
20
121
1.77
1.41
3.2
2.4
2.31
2.39
g/l
0.25
20
115
116
1059
1.83
1.39
19.2
12.4
23.48
21.99
mg/l
0.21
93
807
24
156
1.66
1.32
2.2
2.7
2.41
2.45
mmol/l
1.13
12
136
18
108
1.77
1.30
2.7
2.6
0.61
0.78
ug/l
—
10
65
6
26
2.37
1.20
13.2
4.2
10.30
8.80
kpa
—
6
26
33
238
1.52
1.19
2.7
2.1
3.45
2.97
mg/l
0.60
28
210
5
20
2.56
1.16
1.0
1.1
—
—
—
0
0
25
170
1.58
1.16
4.4
3.4
110.25
146.71
ng/l
0.14
16
118
41
311
1.46
1.16
4.0
2.8
7.08
8.57
mmol/l
1.20
34
274
20
129
1.65
1.14
1.7
2.0
—
—
—
0
0
29
393
0.66
1.13
2.0
2.4
—
—
—
0
0
8
41
2.01
1.11
4.0
2.6
1.05
1.33
%
—
8
41
79
683
1.39
1.04
3.6
3.3
—
—
—
0
0
17
108
1.66
1.02
1.3
1.3
—
—
—
0
0
0
28
0.00
0.99
0.0
2.6
—
—
—
0
0
119
1118
1.70
0.95
17.0
10.9
—
—
—
0
0
6
29
2.12
0.90
1.2
1.2
—
—
—
0
0
6
29
2.12
0.90
1.5
1.6
—
—
—
0
0
10
56
1.85
0.90
1.4
1.5
—
—
—
0
0
10
56
1.85
0.90
1.4
1.5
—
—
—
0
0
16
104
1.61
0.89
1.4
1.4
—
—
—
0
0
39
308
1.38
0.87
1.3
1.3
0.57
1.32
u/ml
—
9
78
31
236
1.41
0.85
4.1
3.2
—
—
—
0
0
8
46
1.79
0.84
1.4
1.7
—
—
—
0
0
89
800
1.35
0.83
4.8
4.0
14.72
14.65
pmol/l
0.09
80
728
11
66
1.73
0.81
1.8
1.7
—
—
—
0
0
6
33
1.86
0.80
2.0
3.7
1.30
1.33
mmol/l
—
6
33
16
108
1.55
0.78
1.6
1.1
—
—
—
0
0
11
67
1.70
0.78
26.7
10.5
—
—
—
0
0
10
60
1.72
0.74
1.5
1.6
—
—
—
0
0
19
135
1.48
0.74
3.2
2.4
12.75
14.17
umol/l
0.42
19
127
28
216
1.38
0.71
1.8
1.9
—
—
—
0
0
15
102
1.53
0.71
4.1
3.2
1.79
1.75
%
0.09
15
94
48
403
1.30
0.70
9.9
9.6
0.98
1.21
inr
6.62
16
129
5
27
1.88
0.69
1.0
1.4
—
—
—
0
0
5
27
1.88
0.69
1.6
1.3
—
—
—
0
0
12
78
1.59
0.68
11.5
4.7
1.54
2.19
mmol/l
0.26
12
57
14
95
1.53
0.67
1.2
1.4
—
—
—
0
0
7
44
1.62
0.66
18.3
5.7
24.43
24.51
mmol/l
—
7
44
14
96
1.51
0.64
1.3
1.4
—
—
—
0
0
14
96
1.51
0.64
1.2
1.4
—
—
—
0
0
8
49
1.67
0.63
39.3
4.7
26.10
24.44
mmol/l
—
8
49
14
97
1.50
0.62
1.2
1.4
—
—
—
0
0
30
240
1.32
0.61
3.6
3.2
49.49
63.59
mg/l
0.19
19
155
11
72
1.58
0.61
1.2
1.5
—
—
—
0
0
36
296
1.30
0.61
6.4
4.1
7.37
7.40
ph
—
6
50
6
35
1.75
0.58
1.2
1.2
—
—
—
0
0
6
37
1.65
0.56
1.7
1.6
—
—
—
0
0
40
337
1.27
0.56
1.9
1.6
—
—
—
0
0
31
253
1.30
0.55
4.0
3.6
12.73
9.76
mg/mmol
0.15
18
160
6
39
1.56
0.54
4.7
2.6
0.50
0.69
%
—
6
39
9
64
1.44
0.53
1.2
1.2
—
—
—
0
0
13
93
1.44
0.50
1.2
1.4
—
—
—
0
0
11
76
1.49
0.50
1.3
1.5
—
—
—
0
0
7
49
1.45
0.47
3.0
4.9
—
—
—
0
0
23
281
0.78
0.45
7.2
2.9
0.13
0.29
e6/l
0.55
16
216
6
93
0.63
0.44
12.7
3.4
—
—
—
0
0
5
31
1.64
0.43
1.2
1.3
—
—
—
0
0
0
16
0.00
0.41
0.0
1.1
—
10.46
—
0
5
103
980
1.24
0.41
4.9
3.9
5.99
5.79
mmol/l
0.48
97
892
0
19
0.00
0.39
0.0
1.0
—
1.22
—
0
8
11
81
1.39
0.37
3.0
2.2
3.63
5.01
e9/l
—
6
72
13
99
1.35
0.37
1.2
1.4
—
—
—
0
0
6
44
1.38
0.35
3.0
1.5
—
—
—
0
0
22
185
1.23
0.32
2.0
2.0
82.29
98.40
ug/g
0.22
14
139
7
52
1.37
0.32
22.1
10.2
95.76
95.15
%
—
7
52
7
54
1.31
0.31
22.4
9.7
1.07
0.66
%
—
7
54
7
54
1.31
0.31
22.4
9.8
1.71
1.25
%
—
7
54
25
214
1.21
0.31
5.2
2.5
4.47
4.63
e6/l
0.03
20
196
37
329
1.17
0.30
5.3
3.1
35.19
34.94
ng/l
0.00
25
205
15
121
1.27
0.30
1.5
1.1
—
—
—
0
0
11
140
0.77
0.30
1.0
1.3
—
—
—
0
0
41
374
1.14
0.24
5.8
3.6
12.72
34.96
e6/l
1.17
23
262
77
733
1.12
0.22
7.9
4.2
—
—
—
0
0
13
107
1.24
0.22
15.0
5.5
104.62
103.99
mmol/l
0.20
13
107
0
10
0.00
0.21
0.0
3.5
—
—
—
0
0
0
10
0.00
0.21
0.0
2.3
—
256.30
—
0
10
0
10
0.00
0.21
0.0
1.5
—
—
—
0
0
0
12
0.00
0.21
0.0
1.1
—
—
—
0
0
10
80
1.27
0.21
1.2
1.2
—
—
—
0
0
0
13
0.00
0.21
0.0
1.2
—
29.11
—
0
13
0
13
0.00
0.21
0.0
16.8
—
1551.85
—
0
13
6
49
1.24
0.20
2.3
2.1
—
—
—
0
0
0
14
0.00
0.20
0.0
1.6
—
—
—
0
0
26
286
0.89
0.17
5.7
3.7
0.00
0.00
estimate
-0.00
16
106
26
286
0.89
0.17
6.5
2.8
—
—
—
0
0
12
104
1.17
0.13
2.4
1.8
421.00
370.14
nmol/l
0.55
12
97
28
263
1.08
0.09
7.0
7.4
—
—
—
0
0
100
983
1.07
0.08
3.6
3.4
1.36
1.26
mmol/l
0.49
90
909
5
60
0.83
0.08
1.2
1.5
—
—
—
0
0
29
306
0.93
0.08
6.1
2.9
—
—
—
0
0
6
70
0.85
0.08
1.8
3.4
—
—
—
0
0
8
76
1.06
0.07
1.1
1.4
—
—
—
0
0
41
426
0.95
0.07
4.4
3.2
—
5.73
—
0
32
33
315
1.06
0.07
5.6
2.9
20.74
47.85
e6/l
0.72
23
246
17
158
1.09
0.06
13.9
3.9
0.78
0.81
mmol/l
0.84
17
148
54
526
1.05
0.05
6.8
4.7
0.00
0.00
estimate
-0.00
17
107
41
397
1.05
0.05
2.2
1.8
—
—
—
0
0
101
1022
0.95
0.05
4.2
3.8
1.40
1.45
mmol/l
0.59
94
947
103
1036
0.97
0.00
5.0
4.2
2.79
2.77
mmol/l
0.09
96
962
13
129
1.01
0.00
1.8
1.2
—
—
—
0
0
103
1029
1.00
0.00
4.2
3.9
4.55
4.64
mmol/l
0.41
95
957
24
238
1.01
0.00
3.1
3.6
—
—
—
0
0
53
529
1.00
0.00
5.3
3.4
0.00
0.00
estimate
-0.00
16
109
54
536
1.01
0.00
5.3
3.4
0.00
0.00
estimate
-0.00
17
102
0
9
0.00
0.00
0.0
1.4
—
—
—
0
0
0
9
0.00
0.00
0.0
1.1
—
—
—
0
0
5
54
0.92
-0.00
7.2
7.0
26.90
24.96
mmol/l
—
5
54
0
5
0.00
-0.00
0.0
2.8
—
—
—
0
0
0
7
0.00
-0.00
0.0
1.0
—
—
—
0
0
5
49
1.02
-0.00
1.0
1.2
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
6
0.00
-0.00
0.0
6.7
—
—
—
0
0
0
8
0.00
-0.00
0.0
1.9
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.2
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
7
0.00
-0.00
0.0
1.3
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
6
0.00
-0.00
0.0
2.0
—
0.97
—
0
6
0
8
0.00
-0.00
0.0
1.1
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.2
—
6.93
—
0
6
0
5
0.00
-0.00
0.0
2.4
—
19.20
—
0
5
0
6
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
6
0.00
-0.00
0.0
2.0
—
—
—
0
0
8
79
1.01
-0.00
21.5
5.9
117.88
124.58
g/l
—
8
79
6
68
0.88
-0.00
2.8
2.0
—
—
—
0
0
0
7
0.00
-0.00
0.0
1.6
—
—
—
0
0
0
7
0.00
-0.00
0.0
1.3
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
7
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_REDUCT_DEFECTS_LOWER_LIMB_WIDE – Reduction defects of lower limb

GWS hits: -

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