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Syndactyly

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

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

134

4. Check minimum number of events

None

134

5. Include endpoints

None

134

6. Filter based on genotype QC (FinnGen only)

130

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 130 86 44
Unadjusted period prevalence (%) 0.03 0.03 0.02
Median age at first event (years) 34.11 28.08 45.88

-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
134
Matched controls
1340
Code
Vocabulary
Description
Odds Ratio
-log10(p)
N matched cases
N matched controls
Q70.1
ICD-10 Finland
Webbed fingers
+∞
62.5
55
*
Q70.9
ICD-10 Finland
Syndactyly, unspecified
+∞
45.4
41
*
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
*
AA1AD
NOMESCO Finland
CT of head and brain
3.5
9.3
41
151
7551A
ICD-9 Finland
Other congenital anomalies of limbs, Syndactyly[SYNDACTYLIA]
+∞
8.4
8
*
9493
FHL
Reconstruction or shaping of hand skin and soft tissues, e.g. syndactyl
+∞
7.4
7
*
R55
ICD-10 Finland
Syncope and collapse
4.0
6.9
21
59
WX700
NOMESCO Finland
Respiratory and circulatory monitoring
3.3
6.6
28
99
75512
ICD-8 Finland
Other congenital anomalies of limbs, Syndactylia cum reductione phalangis, manus
+∞
6.3
6
*
N07AA02
ATC
pyridostigmine; systemic
+∞
6.3
6
*
108
Kela drug reimbursment
Myasthenia gravis
+∞
6.3
6
*
G70.0
ICD-10 Finland
Myasthenia gravis
+∞
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
16
39
4.52
6.29
5.4
2.9
129.19
136.95
g/l
0.78
16
39
17
47
4.00
5.69
2.3
2.1
69.83
84.02
ng/l
0.18
12
42
63
365
2.37
5.60
14.5
10.8
1.03
1.14
inr
1.60
19
111
10
15
7.11
4.56
4.4
2.9
1.61
1.17
mmol/l
—
10
15
7
7
10.46
4.06
2.9
1.4
—
—
—
0
0
9
14
6.80
4.05
3.6
3.1
7.81
7.47
mmol/l
—
9
14
32
157
2.36
3.98
4.0
2.5
205.94
250.35
ng/l
0.08
18
96
35
186
2.19
3.59
2.8
2.9
522.63
576.19
mosm/kgh2o
0.54
30
160
48
298
1.95
3.22
3.5
2.9
23.01
64.90
e6/l
0.99
36
225
77
559
1.89
3.20
9.7
4.0
6.52
6.40
mmol/l
0.19
71
509
12
35
3.66
3.20
5.3
2.7
0.56
0.62
%
0.36
12
35
44
273
1.91
2.92
3.9
3.1
15.86
51.33
ng/l
0.97
29
156
13
47
2.96
2.91
4.2
3.4
—
—
—
0
0
115
978
2.24
2.76
18.5
13.3
13.52
14.19
%
1.38
110
969
34
197
1.97
2.74
3.3
2.0
1.08
0.74
mg/l
0.77
25
144
6
10
6.22
2.73
2.0
3.4
4.23
4.01
mmol/l
—
6
10
6
10
6.22
2.73
2.0
3.4
—
—
—
0
0
6
10
6.22
2.73
2.0
3.4
109.00
105.40
mmol/l
—
6
10
11
35
3.33
2.71
3.5
2.8
26.20
24.42
mmol/l
0.74
11
35
36
214
1.93
2.69
3.5
3.8
—
—
—
0
0
5
7
7.36
2.57
1.0
2.0
3.28
1.67
mmol/l
—
5
7
38
234
1.87
2.54
4.2
3.3
1.02
1.02
kg/l
—
8
33
8
21
3.98
2.50
4.8
5.4
—
—
—
0
0
41
266
1.78
2.30
2.5
2.8
0.18
0.24
e6/l
0.20
28
196
23
123
2.05
2.29
2.4
1.4
—
—
—
0
0
69
522
1.66
2.20
3.9
3.4
0.00
0.00
estimate
—
8
101
51
361
1.67
2.07
4.0
3.4
23.75
47.16
e6/l
0.59
36
238
43
292
1.70
2.04
2.8
2.7
—
—
—
0
0
68
520
1.62
2.03
3.9
3.3
0.00
0.01
estimate
—
8
109
12
51
2.49
2.01
1.0
1.2
—
—
—
0
0
5
11
4.67
1.96
1.2
1.0
1.41
1.26
g/l
—
5
11
22
123
1.94
1.94
2.3
1.8
—
—
—
0
0
67
517
1.59
1.89
5.6
4.7
0.00
0.00
estimate
—
8
105
5
12
4.28
1.84
9.4
3.3
—
—
—
0
0
5
12
4.28
1.84
9.4
3.0
61.00
72.34
%
—
5
12
120
1083
2.03
1.75
15.7
10.8
22.72
20.90
mg/l
0.25
100
818
56
422
1.56
1.70
8.6
5.9
1.22
1.22
mmol/l
0.29
49
370
7
25
2.90
1.67
3.4
2.9
22.23
24.00
mmol/l
—
7
25
27
400
0.59
1.62
1.7
1.8
—
—
—
0
0
6
20
3.09
1.60
1.5
1.7
—
—
—
0
0
34
234
1.61
1.50
3.2
3.0
—
—
—
0
0
21
130
1.73
1.37
8.6
3.2
0.82
0.81
mmol/l
0.18
21
123
13
69
1.98
1.34
2.2
2.1
—
—
—
0
0
14
77
1.91
1.31
1.6
1.2
—
—
—
0
0
64
520
1.44
1.27
5.4
5.9
7.55
8.20
%
0.88
59
490
8
36
2.30
1.26
2.1
2.1
—
—
—
0
0
37
270
1.51
1.26
2.5
2.6
—
—
—
0
0
66
544
1.42
1.19
5.1
5.6
29.87
30.29
%
0.11
61
515
61
503
1.39
1.07
9.5
7.4
0.00
0.00
e9/l
0.01
49
399
64
537
1.37
0.99
5.2
5.4
55.00
55.85
%
0.23
59
506
16
101
1.66
0.99
7.6
5.5
106.00
104.76
mmol/l
0.53
16
101
41
322
1.39
0.94
2.2
2.1
—
—
—
0
0
42
332
1.39
0.93
1.8
1.7
100.91
92.12
pmol/l
0.58
26
175
35
268
1.41
0.92
4.3
3.6
0.00
0.01
estimate
—
8
104
32
241
1.43
0.92
3.2
2.2
87.22
450.83
u/l
0.79
32
234
22
154
1.51
0.91
2.3
2.6
1.36
4.16
e6/l
1.93
11
90
39
306
1.39
0.90
3.9
3.2
—
—
—
0
0
0
25
0.00
0.80
0.0
1.3
—
—
—
0
0
19
133
1.50
0.79
1.4
1.2
—
—
—
0
0
7
38
1.89
0.75
57.4
7.5
—
—
—
0
0
121
1150
1.54
0.72
14.6
9.6
—
—
—
0
0
5
27
1.88
0.69
2.0
1.6
—
—
—
0
0
5
27
1.88
0.69
1.6
1.7
—
—
—
0
0
46
387
1.29
0.65
1.6
1.7
—
—
—
0
0
19
140
1.42
0.62
1.6
2.1
—
—
—
0
0
27
212
1.34
0.62
3.2
3.8
19.25
14.33
mg/mmol
0.10
16
129
93
857
1.28
0.61
5.5
4.4
39.38
38.22
mmol/mol
0.50
86
816
0
21
0.00
0.60
0.0
1.4
—
0.63
—
0
16
58
507
1.25
0.60
6.1
5.8
—
—
—
0
0
0
22
0.00
0.60
0.0
3.3
—
3.90
—
0
22
37
307
1.28
0.58
1.6
1.7
—
—
—
0
0
9
61
1.51
0.55
6.0
3.9
86.44
76.10
ng/l
—
9
55
128
1243
1.66
0.54
20.5
15.8
4.51
4.54
e12/l
0.38
122
1212
6
96
0.61
0.54
2.3
2.7
1.28
1.68
%
—
6
87
6
96
0.61
0.54
3.0
3.6
—
—
—
0
0
128
1242
1.68
0.54
23.6
15.8
39.26
40.32
%
1.12
123
1182
6
39
1.56
0.53
1.0
1.1
—
—
—
0
0
61
542
1.23
0.53
5.6
5.5
0.57
0.55
e9/l
0.21
55
466
61
543
1.23
0.52
5.6
5.5
0.04
0.04
e9/l
0.14
55
465
23
182
1.32
0.51
1.6
1.5
—
—
—
0
0
26
210
1.30
0.50
4.4
3.6
—
—
—
0
0
105
997
1.25
0.43
4.0
3.8
2.77
2.77
mmol/l
0.02
99
931
8
56
1.46
0.43
3.9
4.1
1.25
1.22
mmol/l
—
8
49
7
103
0.66
0.41
1.1
1.2
—
—
—
0
0
0
17
0.00
0.41
0.0
2.9
—
16.09
—
0
17
0
18
0.00
0.40
0.0
1.2
—
—
—
0
0
80
744
1.19
0.40
4.7
4.0
—
—
—
0
0
9
67
1.37
0.39
1.2
1.4
—
—
—
0
0
5
36
1.40
0.38
1.4
1.7
—
—
—
0
0
9
68
1.35
0.38
2.7
3.4
4.43
4.83
pmol/l
—
9
61
16
200
0.77
0.38
1.3
1.7
—
—
—
0
0
14
108
1.33
0.37
2.6
2.5
1674.42
4680.81
u/l
—
6
42
31
266
1.22
0.37
4.5
6.8
—
—
—
0
0
69
637
1.17
0.36
3.3
3.0
—
—
—
0
0
59
538
1.17
0.36
2.9
2.6
78.25
72.22
ug/l
0.16
53
505
6
43
1.41
0.35
1.3
1.1
—
—
—
0
0
11
82
1.37
0.35
40.5
6.9
—
—
—
0
0
14
109
1.32
0.35
1.1
1.2
—
—
—
0
0
103
984
1.20
0.35
4.8
4.4
1.87
1.82
mu/l
0.13
96
915
12
152
0.77
0.31
1.2
1.4
—
—
—
0
0
10
75
1.36
0.31
1.5
1.4
—
—
—
0
0
11
84
1.34
0.31
5.1
4.5
—
7.43
—
0
5
100
959
1.17
0.29
4.3
3.6
5.65
5.69
mmol/l
0.14
95
886
102
981
1.17
0.27
3.7
3.5
1.45
1.46
mmol/l
0.12
97
917
5
74
0.66
0.26
1.8
1.5
—
—
—
0
0
9
76
1.20
0.25
52.2
5.8
23.89
24.45
mmol/l
—
9
76
67
633
1.12
0.22
6.4
8.4
4.65
4.01
e9/l
0.99
62
546
8
102
0.77
0.22
1.3
1.5
—
—
—
0
0
5
42
1.20
0.21
1.2
1.1
—
—
—
0
0
0
10
0.00
0.21
0.0
1.2
—
—
—
0
0
0
10
0.00
0.21
0.0
1.8
—
90.64
—
0
10
0
10
0.00
0.21
0.0
4.9
—
2.92
—
0
10
0
10
0.00
0.21
0.0
1.1
—
—
—
0
0
0
10
0.00
0.21
0.0
3.0
—
—
—
0
0
0
10
0.00
0.21
0.0
3.3
—
—
—
0
0
0
12
0.00
0.21
0.0
1.2
—
—
—
0
0
0
12
0.00
0.21
0.0
1.5
—
—
—
0
0
0
12
0.00
0.21
0.0
1.5
—
61.08
—
0
12
0
12
0.00
0.21
0.0
1.2
—
0.30
—
0
7
0
12
0.00
0.21
0.0
1.2
—
5.89
—
0
7
0
12
0.00
0.21
0.0
1.2
—
3.16
—
0
7
0
13
0.00
0.21
0.0
1.0
—
—
—
0
0
0
14
0.00
0.20
0.0
1.1
—
—
—
0
0
14
118
1.21
0.20
2.5
1.3
—
—
—
0
0
23
204
1.15
0.19
2.4
3.2
75.41
96.65
mg/l
0.13
14
128
7
59
1.20
0.18
5.6
5.0
—
—
—
0
0
7
61
1.16
0.18
1.4
1.3
—
—
—
0
0
36
332
1.12
0.17
1.4
1.4
0.88
1.78
u/ml
—
6
72
5
66
0.75
0.17
1.2
4.3
1.92
10.62
ug/l
—
5
52
5
65
0.76
0.17
1.4
1.7
—
—
—
0
0
5
68
0.73
0.17
1.2
1.0
—
—
—
0
0
8
71
1.13
0.16
1.8
1.5
—
—
—
0
0
6
75
0.79
0.16
1.2
1.2
—
46.96
—
0
5
29
269
1.10
0.12
2.2
2.7
9.50
8.29
mmol/l
0.41
21
237
5
44
1.14
0.10
1.6
1.5
—
—
—
0
0
5
45
1.12
0.10
2.0
3.0
—
—
—
0
0
5
46
1.09
0.09
1.6
1.4
—
—
—
0
0
33
312
1.08
0.09
1.4
1.4
2.45
2.45
g/l
0.00
16
173
8
76
1.06
0.07
1.5
1.5
1.28
1.20
g/l
—
8
67
8
77
1.04
0.07
1.4
1.3
—
—
—
0
0
7
82
0.85
0.07
2.0
2.3
—
21.10
—
0
5
9
87
1.04
0.07
10.7
2.0
10.54
10.19
g/l
—
9
78
37
382
0.96
0.04
1.9
2.0
—
—
—
0
0
16
170
0.93
0.04
1.3
1.3
8.42
28.03
iu/ml
—
6
60
10
109
0.91
0.04
1.3
1.4
—
—
—
0
0
14
148
0.94
0.02
3.7
2.6
2.44
2.43
mmol/l
—
8
125
37
379
0.97
0.02
2.9
2.3
—
—
—
0
0
10
93
1.08
0.02
1.3
1.4
—
—
—
0
0
27
267
1.01
0.00
1.5
1.7
—
—
—
0
0
10
95
1.06
0.00
1.3
1.4
—
—
—
0
0
10
95
1.06
0.00
1.3
1.4
—
—
—
0
0
10
95
1.06
0.00
1.3
1.4
—
—
—
0
0
83
826
1.01
0.00
3.7
3.9
13.98
14.54
pmol/l
1.35
75
757
0
6
0.00
0.00
0.0
2.2
—
—
—
0
0
0
5
0.00
0.00
0.0
1.4
—
—
—
0
0
6
62
0.97
0.00
1.3
2.0
15.93
19.82
iu/l
—
6
52
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
1.6
—
—
—
0
0
0
5
0.00
0.00
0.0
1.0
—
1375.80
—
0
5
0
5
0.00
0.00
0.0
1.2
—
—
—
0
0
0
6
0.00
0.00
0.0
1.2
—
—
—
0
0
0
9
0.00
0.00
0.0
1.2
—
—
—
0
0
0
6
0.00
0.00
0.0
2.0
—
33.33
—
0
6
0
6
0.00
0.00
0.0
1.0
—
—
—
0
0
0
6
0.00
0.00
0.0
1.3
—
—
—
0
0
0
5
0.00
0.00
0.0
1.2
—
33.16
—
0
5
0
6
0.00
0.00
0.0
3.8
—
1.44
—
0
6
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
5
0.00
0.00
0.0
1.4
—
—
—
0
0
0
9
0.00
0.00
0.0
1.0
—
—
—
0
0
0
5
0.00
0.00
0.0
1.2
—
—
—
0
0
0
5
0.00
0.00
0.0
1.2
—
—
—
0
0
0
6
0.00
0.00
0.0
1.3
—
—
—
0
0
0
5
0.00
0.00
0.0
2.2
—
—
—
0
0
0
7
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
7
0.00
-0.00
0.0
3.0
—
55.71
—
0
7
0
8
0.00
-0.00
0.0
1.1
—
89.94
—
0
8
0
7
0.00
-0.00
0.0
1.0
—
24.76
—
0
7
0
8
0.00
-0.00
0.0
1.1
—
5.64
—
0
8
0
7
0.00
-0.00
0.0
1.3
—
—
—
0
0
0
8
0.00
-0.00
0.0
1.6
—
—
—
0
0
0
8
0.00
-0.00
0.0
1.1
—
—
—
0
0
8
81
0.99
-0.00
50.6
6.2
0.30
1.13
mmol/l
—
8
64
5
59
0.84
-0.00
6.2
5.2
23.90
24.41
mmol/l
—
5
59
0
8
0.00
-0.00
0.0
3.3
—
—
—
0
0
0
8
0.00
-0.00
0.0
4.1
—
—
—
0
0
9
89
1.01
-0.00
1.3
1.4
—
—
—
0
0

Mortality – FinRegistry

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

Relationships between endpoints

Index endpoint: Q17_SYNDACTYLY_WIDE – Syndactyly

GWS hits: -

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