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Reduction defects of upper limb

Q17_REDUCT_DEFECTS_UPPER_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 Q71
  • Hospital discharge: ICD-10 Q71
  • Cause of death: ICD-10 Q71

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

110

4. Check minimum number of events

None

110

5. Include endpoints

None

110

6. Filter based on genotype QC (FinnGen only)

99

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 superioris

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 99 56 43
Unadjusted period prevalence (%) 0.02 0.02 0.02
Median age at first event (years) 32.70 29.75 36.54

-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
110
Matched controls
1100
Code
Vocabulary
Description
Odds Ratio
-log10(p)
N matched cases
N matched controls
Q71.88
ICD-10 Finland
Other reduction defects of upper limb(s)
+∞
26.1
24
*
Q71.9
ICD-10 Finland
Reduction defect of upper limb, unspecified
+∞
22.7
21
*
Q71.3
ICD-10 Finland
Congenital absence of hand and finger(s)
+∞
16.0
15
*
Q71.81
ICD-10 Finland
Congenital reduction malformation of thumb
+∞
12.7
12
*
Q71.2
ICD-10 Finland
Congenital absence of both forearm and hand
+∞
12.7
12
*
R4110
NOMESCO Finland
Physiotherapy
3.8
10.5
48
186
XF400
NOMESCO Finland
ECG with 12 standard connections
4.4
10.5
33
98
Z3226
NOMESCO Finland
Physiotherapist
4.0
10.1
39
134
Q71.4
ICD-10 Finland
Longitudinal reduction defect of radius
+∞
9.5
9
*
Z2221
NOMESCO Finland
Medical doctor
3.4
8.6
45
186
Z3229
NOMESCO Finland
Other healthcare associate professional
4.8
8.5
22
55
Q71.0
ICD-10 Finland
Congenital complete absence of upper limb(s)
+∞
8.4
8
*
Q71.80
ICD-10 Finland
Congenital reduction malformation of finger (s)
+∞
8.4
8
*
ZXD10
NOMESCO Finland
Scheduled procedure
3.2
8.2
53
248
ZXE10
NOMESCO Finland
More than one and less than three hours
3.2
7.9
49
223
R4120
NOMESCO Finland
Occupational therapy
6.9
7.8
19
32
FM1AE
NOMESCO Finland
Standard cardiac ultrasound examination
4.0
7.3
24
72
WX408
NOMESCO Finland
General anesthesy, balanced
3.1
7.0
42
185
Q71
ICD-10 Finland
Reduction defects of upper limb
+∞
6.3
6
*
NDT20
NOMESCO Finland
Correction of complicated handanomaly
+∞
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
45
246
2.40
4.62
1.6
1.9
85.57
94.94
pmol/l
0.97
26
131
26
139
2.14
2.65
2.5
2.8
642.83
351.49
ng/l
0.32
18
90
12
42
3.08
2.65
1.6
1.2
—
—
—
0
0
21
106
2.21
2.46
7.0
10.8
—
—
—
0
0
55
390
1.82
2.45
6.7
9.0
1.23
1.22
mmol/l
0.15
50
346
44
299
1.79
2.20
12.8
8.1
1.11
1.15
inr
—
10
87
18
90
2.20
2.15
1.3
1.8
611.54
1176.91
nmol/l
3.64
13
72
37
242
1.80
2.09
2.9
2.5
—
—
—
0
0
21
114
2.04
2.05
1.8
2.3
—
—
—
0
0
10
39
2.72
2.00
9.7
10.2
94.32
94.17
%
—
10
39
23
131
1.96
1.97
1.9
6.5
0.88
0.81
mmol/l
1.25
23
122
101
914
2.28
1.84
12.1
12.3
26.81
23.69
mg/l
0.39
79
661
20
114
1.92
1.71
1.4
1.5
—
—
—
0
0
10
42
2.52
1.67
1.8
2.3
15.63
7.30
ug/l
—
10
37
10
43
2.46
1.64
1.3
1.3
—
—
—
0
0
7
26
2.80
1.61
3.3
3.3
—
—
—
0
0
6
20
3.11
1.60
1.5
1.4
10.08
8.97
mg/l
—
6
20
27
173
1.74
1.60
2.2
3.1
2.04
1.89
mg/l
0.04
16
139
18
102
1.91
1.56
1.2
1.8
—
—
—
0
0
20
118
1.85
1.54
3.2
10.4
—
—
—
0
0
16
90
1.91
1.42
1.4
1.3
—
—
—
0
0
16
92
1.86
1.33
2.6
3.0
23.66
23.81
%
0.01
11
86
76
652
1.54
1.24
3.6
4.5
8.99
9.50
mm/h
0.16
70
612
15
87
1.84
1.22
7.7
10.6
105.93
104.21
mmol/l
0.77
15
87
13
75
1.83
1.08
1.4
1.5
—
—
—
0
0
7
33
2.20
1.07
1.0
1.2
—
—
—
0
0
59
491
1.43
1.06
5.0
5.2
6.33
6.37
mmol/l
0.06
52
452
13
76
1.81
1.04
1.2
1.5
—
—
—
0
0
9
48
1.95
1.03
1.1
1.6
—
—
—
0
0
23
159
1.56
1.02
2.9
3.8
—
—
—
0
0
0
30
0.00
0.99
0.0
1.5
—
—
—
0
0
0
30
0.00
0.99
0.0
1.5
—
—
—
0
0
17
110
1.65
0.97
9.8
10.9
25.28
24.90
mmol/l
0.24
17
110
0
32
0.00
0.97
0.0
1.6
—
—
—
0
0
8
42
1.97
0.91
2.6
10.4
0.63
0.62
%
—
8
42
21
289
0.66
0.90
1.7
2.2
—
—
—
0
0
8
44
1.88
0.88
2.6
10.0
1.25
1.26
%
—
8
44
62
532
1.38
0.87
7.0
8.2
2.10
2.07
e9/l
0.09
55
483
61
524
1.37
0.84
7.7
9.1
0.16
0.20
e9/l
1.32
54
470
12
184
0.61
0.83
1.3
1.7
—
—
—
0
0
6
33
1.86
0.80
1.0
1.2
—
—
—
0
0
14
91
1.62
0.80
5.7
6.6
25.19
24.20
mmol/l
1.11
14
91
60
518
1.35
0.79
3.7
2.8
—
—
—
0
0
0
27
0.00
0.78
0.0
1.1
—
—
—
0
0
0
27
0.00
0.78
0.0
1.1
—
—
—
0
0
55
470
1.34
0.77
8.5
10.2
0.00
0.00
e9/l
0.49
43
374
24
180
1.43
0.73
3.0
3.3
71.46
109.30
mg/l
0.28
14
117
59
514
1.32
0.70
7.3
8.3
0.03
0.04
e9/l
0.71
51
455
59
516
1.31
0.67
7.3
8.3
0.54
0.56
e9/l
0.33
51
458
14
96
1.53
0.65
6.0
6.6
—
—
—
0
0
11
71
1.61
0.65
8.9
8.0
-0.06
1.48
mmol/l
0.60
11
54
20
149
1.42
0.63
1.3
1.3
9.30
32.99
iu/ml
—
6
50
5
30
1.70
0.62
1.2
1.3
—
—
—
0
0
31
251
1.33
0.60
3.5
3.3
5.80
8.41
mmol/l
2.81
26
221
22
169
1.38
0.59
2.4
2.6
598.19
592.50
mosm/kgh2o
0.03
16
135
6
35
1.75
0.59
1.2
2.1
—
—
—
0
0
6
36
1.70
0.57
1.2
1.1
1.30
5.15
u/ml
—
6
27
24
188
1.35
0.57
3.8
4.5
—
—
—
0
0
24
188
1.35
0.57
3.6
3.9
11.54
13.60
mg/mmol
0.08
14
119
100
954
1.53
0.57
13.6
9.6
—
—
—
0
0
9
59
1.57
0.56
2.1
3.7
4.43
5.10
pmol/l
—
9
50
6
40
1.53
0.52
1.0
1.1
—
—
—
0
0
65
591
1.24
0.48
2.9
3.8
—
—
—
0
0
33
279
1.26
0.46
1.3
1.5
—
—
—
0
0
23
187
1.29
0.43
1.8
2.5
8.37
8.38
e6/l
0.00
17
161
5
31
1.64
0.43
3.2
6.9
—
—
—
0
0
7
102
0.67
0.42
1.3
1.3
—
—
—
0
0
34
292
1.24
0.42
7.9
7.7
—
—
—
0
0
0
16
0.00
0.41
0.0
1.2
—
—
—
0
0
0
16
0.00
0.41
0.0
2.8
—
—
—
0
0
0
16
0.00
0.41
0.0
4.6
—
—
—
0
0
0
16
0.00
0.41
0.0
1.1
—
—
—
0
0
0
17
0.00
0.41
0.0
1.2
—
—
—
0
0
5
34
1.49
0.41
15.0
10.4
—
—
—
0
0
18
223
0.77
0.41
5.7
3.3
0.00
0.01
estimate
—
7
70
0
18
0.00
0.40
0.0
1.2
—
—
—
0
0
0
18
0.00
0.40
0.0
4.1
—
14.17
—
0
18
0
18
0.00
0.40
0.0
1.5
—
—
—
0
0
18
143
1.31
0.40
1.5
1.5
—
—
—
0
0
53
481
1.20
0.37
6.9
8.9
—
—
—
0
0
64
591
1.20
0.37
13.3
10.8
4.25
3.92
e9/l
0.42
58
516
30
342
0.83
0.33
4.0
3.0
—
6.07
—
0
29
7
54
1.32
0.31
2.7
15.3
1.05
1.11
mg/l
—
7
49
9
74
1.24
0.26
4.0
2.0
9.64
13.32
nmol/l
—
9
63
6
81
0.73
0.25
1.2
1.9
—
—
—
0
0
12
146
0.80
0.24
1.6
1.8
—
—
—
0
0
22
192
1.18
0.23
1.4
1.6
—
—
—
0
0
5
40
1.26
0.23
1.2
4.5
—
—
—
0
0
0
10
0.00
0.21
0.0
1.2
—
—
—
0
0
0
10
0.00
0.21
0.0
2.5
—
91.17
—
0
10
0
10
0.00
0.21
0.0
12.3
—
8.88
—
0
10
0
12
0.00
0.21
0.0
1.2
—
—
—
0
0
0
12
0.00
0.21
0.0
2.9
—
12.71
—
0
12
0
13
0.00
0.21
0.0
1.5
—
—
—
0
0
0
13
0.00
0.21
0.0
1.0
—
214.85
—
0
13
0
13
0.00
0.21
0.0
1.1
—
—
—
0
0
14
118
1.21
0.20
1.4
1.1
—
—
—
0
0
26
234
1.15
0.19
3.3
2.8
235.00
26.47
ng/l
0.49
15
132
12
101
1.21
0.17
2.2
3.0
9.34
9.65
g/l
0.13
12
96
9
77
1.18
0.16
1.1
1.3
—
—
—
0
0
21
233
0.88
0.16
2.3
2.7
—
—
—
0
0
40
426
0.90
0.15
3.6
3.2
0.00
0.00
estimate
—
6
75
79
770
1.09
0.11
4.1
3.6
5.98
5.78
mmol/l
0.35
73
708
41
430
0.93
0.10
3.6
3.2
0.00
0.00
estimate
—
6
65
5
45
1.12
0.10
1.0
1.9
0.23
0.22
g/l
—
5
45
5
47
1.07
0.09
1.0
1.8
1.24
1.19
g/l
—
5
47
6
57
1.06
0.08
1.8
5.2
—
—
—
0
0
28
296
0.93
0.08
1.7
1.6
2.04
2.00
g/l
0.05
17
166
26
245
1.08
0.08
1.9
2.1
—
—
—
0
0
41
425
0.94
0.07
4.6
4.5
0.00
0.00
estimate
—
7
74
29
303
0.94
0.06
1.7
1.5
2.25
1.30
u/ml
—
8
63
32
308
1.05
0.05
1.8
1.9
—
—
—
0
0
20
211
0.94
0.05
4.7
3.2
—
—
—
0
0
10
109
0.91
0.04
1.9
2.3
387.20
360.29
nmol/l
—
10
103
29
283
1.03
0.01
2.6
3.2
35.08
15.92
e6/l
0.50
22
216
16
154
1.05
0.00
2.4
3.0
1.20
2.31
e6/l
—
10
93
11
108
1.02
0.00
1.7
5.5
7.82
7.50
umol/l
0.03
11
94
32
323
0.99
0.00
3.4
3.8
16.69
30.44
e6/l
0.65
22
226
20
204
0.98
0.00
2.2
2.6
—
—
—
0
0
25
251
0.99
0.00
2.4
3.2
0.29
0.38
e6/l
0.28
17
184
25
251
0.99
0.00
2.4
3.0
—
—
—
0
0
0
5
0.00
0.00
0.0
1.4
—
—
—
0
0
0
5
0.00
0.00
0.0
4.0
—
48.60
—
0
5
0
6
0.00
0.00
0.0
1.2
—
—
—
0
0
0
6
0.00
0.00
0.0
1.5
—
2025.00
—
0
6
0
5
0.00
0.00
0.0
1.8
—
0.78
—
0
5
0
6
0.00
0.00
0.0
5.0
—
1.70
—
0
6
0
5
0.00
0.00
0.0
1.0
—
—
—
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
6
0.00
0.00
0.0
1.2
—
—
—
0
0
0
5
0.00
0.00
0.0
1.0
—
—
—
0
0
0
6
0.00
0.00
0.0
1.2
—
—
—
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
6.0
—
—
—
0
0
0
5
0.00
0.00
0.0
1.8
—
—
—
0
0
0
5
0.00
0.00
0.0
1.6
—
29141.00
—
0
5
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
6
0.00
0.00
0.0
1.5
—
—
—
0
0
0
5
0.00
0.00
0.0
1.0
—
—
—
0
0
0
5
0.00
0.00
0.0
1.4
—
—
—
0
0
0
5
0.00
0.00
0.0
1.0
—
—
—
0
0
0
9
0.00
-0.00
0.0
1.1
—
—
—
0
0
0
8
0.00
-0.00
0.0
1.5
—
8.14
—
0
8
0
7
0.00
-0.00
0.0
1.4
—
2.92
—
0
7
7
69
1.02
-0.00
1.3
2.2
3.93
4.78
e9/l
—
7
59
0
7
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
9
0.00
-0.00
0.0
1.7
—
—
—
0
0
5
56
0.89
-0.00
6.8
3.6
—
—
—
0
0
8
88
0.90
-0.00
1.6
1.4
—
—
—
0
0
0
9
0.00
-0.00
0.0
1.1
—
—
—
0
0
0
8
0.00
-0.00
0.0
51.4
—
7.13
—
0
8
0
7
0.00
-0.00
0.0
12.7
—
—
—
0
0
0
8
0.00
-0.00
0.0
1.6
—
—
—
0
0
0
7
0.00
-0.00
0.0
1.1
—
—
—
0
0
0
7
0.00
-0.00
0.0
1.3
—
250.43
—
0
7
0
9
0.00
-0.00
0.0
1.1
—
—
—
0
0

Mortality – FinRegistry

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

Relationships between endpoints

Index endpoint: Q17_REDUCT_DEFECTS_UPPER_LIMB_WIDE – Reduction defects of upper limb

GWS hits: -

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