Syndactyly, including avohilmo

Q17_SYNDACTYLY_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 Q70
  • Hospital discharge: ICD-10 Q70
  • Cause of death: ICD-10 Q70

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

152

4. Check minimum number of events

None

152

5. Include endpoints

None

152

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
Syndactylia

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 85 44
Unadjusted period prevalence (%) 0.03 0.03 0.02
Median age at first event (years) 34.32 28.34 45.88

-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
Q70.1
ICD-10 Finland
Webbed fingers
+∞
62.4
55
*
Q70.9
ICD-10 Finland
Syndactyly, unspecified
+∞
46.6
42
*
Q70.3
ICD-10 Finland
Webbed toes
+∞
24.7
23
*
Q70.0
ICD-10 Finland
Fused fingers
+∞
14.9
14
*
NDT38
NOMESCO Finland
Correction of joined fingers
+∞
13.8
13
*
7551A
ICD-9 Finland
Other congenital anomalies of limbs, Syndactyly[SYNDACTYLIA]
+∞
9.5
9
*
9493
FHL
Reconstruction or shaping of hand skin and soft tissues, e.g. syndactyl
+∞
8.4
8
*
AA1AD
NOMESCO Finland
CT of head and brain
3.2
8.4
43
172
WX700
NOMESCO Finland
Respiratory and circulatory monitoring
3.4
7.0
29
101
R55
ICD-10 Finland
Syncope and collapse
3.9
6.9
22
64
G70.0
ICD-10 Finland
Myasthenia gravis
+∞
6.3
6
*
108
Kela drug reimbursment
Myasthenia gravis
+∞
6.3
6
*
75512
ICD-8 Finland
Other congenital anomalies of limbs, Syndactylia cum reductione phalangis, manus
+∞
6.3
6
*
N07AA02
ATC
pyridostigmine; systemic
+∞
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
66
408
2.21
4.84
15.8
11.1
1.22
1.16
inr
0.46
57
334
11
19
6.20
4.55
4.1
2.9
1.55
1.23
mmol/l
0.68
11
19
10
17
6.26
4.21
3.3
3.1
7.61
8.12
mmol/l
—
10
17
25
109
2.59
3.98
5.8
3.9
7.39
7.38
ph
0.23
16
74
6
8
7.78
3.08
1.0
1.9
3.00
1.97
mmol/l
—
6
8
33
183
2.06
3.00
5.1
2.7
48.84
251.17
ng/l
1.46
19
114
13
47
2.95
2.91
5.5
3.0
0.57
0.59
%
0.09
13
47
12
39
3.28
2.85
3.3
2.9
26.12
24.49
mmol/l
0.75
12
39
48
310
1.85
2.80
4.0
3.2
16.35
45.93
ng/l
0.92
33
181
82
624
1.80
2.76
11.4
4.7
6.50
6.34
mmol/l
0.31
76
578
6
11
5.65
2.57
2.0
3.3
109.00
105.64
mmol/l
—
6
11
6
11
5.65
2.57
2.0
3.3
4.23
4.05
mmol/l
—
6
11
6
11
5.65
2.57
2.0
3.3
1.25
1.18
mmol/l
—
6
11
66
481
1.73
2.50
8.7
6.9
1.22
1.21
mmol/l
0.19
59
430
8
22
3.80
2.40
4.8
5.2
—
—
—
0
0
19
93
2.21
2.35
7.4
3.5
4.34
5.03
kpa
1.70
19
93
42
273
1.78
2.35
4.8
3.4
1.01
1.02
kg/l
0.71
32
178
26
147
1.95
2.22
2.2
1.9
—
—
—
0
0
39
252
1.77
2.21
3.6
3.9
—
—
—
0
0
23
125
2.01
2.19
11.1
7.7
105.87
105.09
mmol/l
0.33
23
125
35
220
1.80
2.17
3.7
2.1
1.04
1.04
mg/l
0.01
27
163
6
15
4.13
2.06
1.2
1.0
1.32
1.28
g/l
—
6
15
25
145
1.89
1.99
2.4
1.5
—
—
—
0
0
17
86
2.12
1.95
4.9
2.9
0.09
0.15
e6/l
0.36
17
79
50
357
1.64
1.94
3.9
3.0
22.49
59.34
e6/l
1.04
37
271
41
279
1.67
1.91
4.0
3.6
7.40
7.40
ph
0.66
29
193
65
498
1.59
1.88
4.4
3.2
6.37
6.23
ph
0.51
38
279
6
17
3.64
1.86
9.0
4.1
59.37
66.45
%
—
6
17
45
321
1.60
1.73
3.4
2.7
—
—
—
0
0
6
19
3.25
1.68
9.0
3.6
57.83
65.51
%
—
6
19
40
279
1.62
1.68
3.2
2.3
82.15
404.67
u/l
0.83
40
273
76
615
1.54
1.66
4.7
3.7
0.00
0.00
estimate
-0.00
11
126
51
380
1.55
1.61
6.7
6.2
—
—
—
0
0
42
301
1.57
1.57
2.8
3.0
0.17
0.25
e6/l
0.29
28
218
6
21
2.94
1.52
1.2
1.1
—
—
—
0
0
68
545
1.50
1.51
2.9
2.7
—
—
estimate
—
0
0
74
608
1.48
1.43
4.7
3.6
0.00
0.00
estimate
-0.00
11
132
58
455
1.48
1.41
4.9
3.4
0.00
0.01
estimate
—
9
105
13
68
2.01
1.39
1.0
1.2
—
—
—
0
0
6
23
2.68
1.38
1.7
1.6
—
—
—
0
0
72
592
1.46
1.36
5.8
6.2
30.31
29.97
%
0.09
67
567
70
573
1.46
1.35
5.9
6.3
7.89
8.40
%
0.89
65
544
74
615
1.45
1.31
4.7
3.6
0.00
0.00
estimate
-0.00
11
131
54
428
1.44
1.21
4.8
3.7
23.30
55.88
e6/l
0.70
38
284
70
582
1.42
1.20
5.8
6.1
55.01
56.19
%
0.38
65
560
48
373
1.45
1.19
2.2
2.1
—
—
—
0
0
8
40
2.06
1.14
2.1
2.1
—
—
—
0
0
14
81
1.81
1.14
1.6
1.2
—
—
—
0
0
25
173
1.55
1.07
2.4
2.9
1.36
4.31
e6/l
2.16
11
94
122
1140
1.73
1.06
18.7
12.5
21.73
21.22
mg/l
0.07
108
907
7
36
1.99
0.98
3.9
2.4
22.36
23.72
mmol/l
—
7
36
35
265
1.43
0.98
3.7
3.5
—
—
—
0
0
21
146
1.52
0.89
1.5
2.1
—
—
—
0
0
125
1186
1.73
0.87
15.8
10.6
—
—
—
0
0
65
555
1.33
0.87
11.5
9.0
0.00
0.00
e9/l
0.04
53
433
104
953
1.40
0.85
5.9
5.1
38.04
37.75
mmol/mol
0.13
97
910
15
97
1.61
0.85
38.7
9.7
—
—
—
0
0
12
74
1.68
0.81
8.2
4.2
24.29
24.01
mmol/l
0.19
12
74
12
74
1.68
0.81
5.9
3.9
76.60
74.27
ng/l
0.03
12
67
0
25
0.00
0.80
0.0
1.4
—
0.61
—
0
20
22
159
1.46
0.79
10.0
3.1
0.82
0.81
mmol/l
0.08
22
151
50
416
1.32
0.78
2.1
1.9
101.30
93.43
pmol/l
0.56
30
222
73
642
1.30
0.76
3.4
3.1
77.45
73.22
ug/l
0.12
68
610
35
432
0.74
0.75
1.6
1.8
—
—
—
0
0
9
56
1.65
0.74
6.7
4.1
9.06
9.49
kpa
—
9
56
80
716
1.29
0.71
3.6
3.3
—
—
—
0
0
21
155
1.42
0.68
1.4
1.2
—
—
—
0
0
69
609
1.27
0.67
6.2
6.1
0.57
0.55
e9/l
0.36
64
516
6
101
0.58
0.65
3.2
3.7
—
—
—
0
0
69
611
1.26
0.65
6.2
6.1
0.04
0.04
e9/l
0.01
63
515
39
322
1.30
0.63
4.4
3.6
0.00
0.01
estimate
0.50
11
127
18
240
0.71
0.62
1.3
1.8
—
—
—
0
0
18
132
1.42
0.61
1.2
1.2
—
—
—
0
0
42
353
1.28
0.60
4.0
6.0
—
—
—
0
0
0
23
0.00
0.59
0.0
3.5
—
3.93
—
0
23
18
133
1.41
0.59
2.6
2.6
23.56
24.71
%
0.17
18
128
42
354
1.27
0.58
4.7
3.2
0.13
0.00
estimate
—
8
108
9
61
1.51
0.55
4.0
4.6
1.24
1.22
mmol/l
—
9
55
7
47
1.52
0.48
73.4
13.9
24.14
24.39
mmol/l
—
7
47
111
1056
1.29
0.48
5.6
5.2
1.76
1.82
mu/l
0.24
106
996
7
48
1.48
0.47
1.3
1.1
—
—
—
0
0
26
213
1.27
0.45
1.5
1.5
—
—
—
0
0
12
87
1.42
0.44
51.2
9.1
24.42
24.68
mmol/l
0.15
12
87
13
96
1.39
0.43
40.9
9.0
7.46
7.43
ph
—
6
60
111
1060
1.27
0.43
4.6
4.6
2.71
2.72
mmol/l
0.06
104
1003
0
16
0.00
0.41
0.0
1.2
—
—
—
0
0
0
16
0.00
0.41
0.0
1.1
—
—
—
0
0
0
17
0.00
0.41
0.0
1.1
—
—
—
0
0
31
264
1.23
0.39
3.3
4.1
17.94
13.55
mg/mmol
0.10
17
163
0
19
0.00
0.39
0.0
3.3
—
17.03
—
0
19
9
68
1.35
0.38
1.4
1.3
—
—
—
0
0
12
90
1.37
0.37
2.0
2.3
—
15.92
—
0
9
9
121
0.73
0.37
1.3
1.6
—
—
—
0
0
12
156
0.75
0.37
1.2
1.4
—
—
—
0
0
5
78
0.63
0.37
1.8
1.6
—
—
—
0
0
10
73
1.40
0.35
3.2
3.6
4.52
4.80
pmol/l
—
10
66
6
45
1.35
0.34
1.0
1.2
—
—
—
0
0
10
132
0.74
0.34
1.3
1.5
—
—
—
0
0
11
83
1.35
0.33
1.1
1.2
—
41.80
—
0
6
48
434
1.16
0.32
1.5
1.7
—
—
—
0
0
7
53
1.34
0.31
73.4
13.3
0.50
0.63
%
—
7
53
8
108
0.72
0.30
2.3
2.9
1.29
1.74
%
—
8
99
7
56
1.26
0.30
73.4
12.7
0.94
1.12
%
—
7
56
39
349
1.17
0.29
1.6
1.8
—
—
—
0
0
12
94
1.30
0.29
44.3
9.0
0.44
1.05
mmol/l
0.30
12
78
9
117
0.75
0.29
1.1
1.2
—
—
—
0
0
42
461
0.87
0.27
3.1
2.6
—
—
—
0
0
11
86
1.30
0.27
1.5
1.4
—
—
—
0
0
5
73
0.67
0.27
1.0
1.3
419.01
301.66
miu/ml
—
5
37
5
75
0.65
0.26
1.2
4.3
1.92
10.35
ug/l
—
5
59
16
133
1.23
0.25
2.6
1.3
—
—
—
0
0
21
182
1.18
0.23
3.7
2.4
2.43
2.43
mmol/l
0.01
15
157
5
40
1.26
0.22
1.4
1.8
—
—
—
0
0
108
1048
1.15
0.22
4.2
4.1
1.43
1.45
mmol/l
0.19
103
989
5
42
1.20
0.21
1.2
1.1
—
—
—
0
0
5
42
1.20
0.21
1.4
1.4
—
—
—
0
0
11
89
1.26
0.21
6.1
4.5
7.42
7.41
ph
0.63
11
72
0
11
0.00
0.21
0.0
1.2
—
—
—
0
0
0
10
0.00
0.21
0.0
1.1
—
—
—
0
0
0
10
0.00
0.21
0.0
1.8
—
90.64
—
0
10
0
10
0.00
0.21
0.0
5.1
—
2.90
—
0
10
0
10
0.00
0.21
0.0
3.4
—
—
—
0
0
0
12
0.00
0.21
0.0
1.3
—
—
—
0
0
0
13
0.00
0.21
0.0
1.2
—
3.29
—
0
8
0
13
0.00
0.21
0.0
1.2
—
0.32
—
0
8
0
13
0.00
0.21
0.0
1.2
—
5.85
—
0
8
0
13
0.00
0.21
0.0
1.2
—
—
—
0
0
6
49
1.23
0.20
1.0
1.0
1.69
1.51
g/l
—
6
49
6
49
1.23
0.20
1.0
1.0
0.95
0.85
g/l
—
6
49
36
332
1.12
0.17
2.3
3.0
8.32
8.50
mmol/l
0.06
26
294
7
62
1.14
0.17
7.0
5.0
—
—
—
0
0
93
901
1.10
0.17
4.2
4.3
14.05
14.52
pmol/l
1.20
84
834
24
218
1.12
0.15
1.5
1.3
9.50
26.04
iu/ml
—
7
69
26
283
0.90
0.14
3.8
4.5
—
—
—
0
0
40
424
0.92
0.13
1.9
2.2
—
—
—
0
0
28
259
1.10
0.13
2.5
3.4
61.47
84.54
mg/l
0.18
17
167
5
45
1.12
0.10
1.2
1.7
30.00
35.89
nmol/l
—
5
45
5
46
1.09
0.09
2.0
3.1
—
—
—
0
0
6
53
1.14
0.09
1.8
1.6
—
—
—
0
0
6
72
0.83
0.08
1.2
1.0
—
—
—
0
0
40
384
1.06
0.07
1.4
1.5
0.78
2.02
u/ml
—
8
87
7
80
0.87
0.07
1.7
1.8
—
—
—
0
0
14
128
1.10
0.07
2.6
2.4
1674.42
6077.39
u/l
—
6
51
9
104
0.86
0.06
11.1
2.0
10.40
10.42
g/l
—
9
95
12
110
1.10
0.05
1.5
1.4
—
—
—
0
0
10
92
1.09
0.03
1.5
1.4
—
—
—
0
0
31
302
1.03
0.02
1.5
1.8
—
—
—
0
0
12
113
1.07
0.02
1.5
1.4
—
—
—
0
0
10
94
1.07
0.01
5.9
2.2
13.14
13.19
nmol/l
—
10
89
12
114
1.06
0.01
1.5
1.4
—
—
—
0
0
12
114
1.06
0.01
1.5
1.4
—
—
—
0
0
11
106
1.04
0.00
1.5
1.4
—
—
—
0
0
20
197
1.02
0.00
1.5
1.3
2.74
9.66
u/ml
—
7
80
42
416
1.01
0.00
2.0
1.9
1.39
1.37
mmol/l
0.04
33
363
0
9
0.00
0.00
0.0
1.6
—
—
—
0
0
0
9
0.00
0.00
0.0
1.2
—
—
—
0
0
0
9
0.00
0.00
0.0
1.1
—
92.28
—
0
9
0
9
0.00
0.00
0.0
1.1
—
5.41
—
0
9
0
9
0.00
0.00
0.0
1.1
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
8
0.00
-0.00
0.0
1.8
—
32.63
—
0
8
5
59
0.84
-0.00
8.2
5.3
24.30
24.41
mmol/l
—
5
59
0
6
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
6
0.00
-0.00
0.0
2.2
—
156.00
—
0
6
5
49
1.02
-0.00
1.0
1.0
—
0.67
—
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
0
0
5
0.00
-0.00
0.0
6.0
—
14.60
—
0
5
0
8
0.00
-0.00
0.0
3.6
—
59.50
—
0
8
0
8
0.00
-0.00
0.0
4.9
—
—
—
0
0
8
88
0.90
-0.00
1.5
1.5
1.28
1.22
g/l
—
8
79
0
7
0.00
-0.00
0.0
1.0
—
1227.71
—
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
1.2
—
—
—
0
0
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
5
0.00
-0.00
0.0
1.8
—
—
—
0
0
0
7
0.00
-0.00
0.0
1.6
—
—
—
0
0
0
8
0.00
-0.00
0.0
3.3
—
0.88
—
0
8
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
6
0.00
-0.00
0.0
1.5
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.4
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.3
—
—
—
0
0
0
8
0.00
-0.00
0.0
3.7
—
0.99
—
0
8
0
5
0.00
-0.00
0.0
3.0
—
36.20
—
0
5
0
6
0.00
-0.00
0.0
1.3
—
0.00
—
0
6
8
81
0.99
-0.00
1.8
1.5
—
—
—
0
0
0
7
0.00
-0.00
0.0
1.6
—
33.21
—
0
7
36
360
1.00
-0.00
1.3
1.4
2.43
2.43
g/l
0.01
17
208
0
5
0.00
-0.00
0.0
1.0
—
18.44
—
0
5

Mortality – FinRegistry

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

Relationships between endpoints

Index endpoint: Q17_SYNDACTYLY_WIDE – Syndactyly, including avohilmo

GWS hits: -

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