Syndactyly

Q17_SYNDACTYLY

Endpoint definition

Endpoint definition steps

FinnGen

Phenotype data

520210

1. Apply sex-specific rule

None

520210

2. Check conditions

None

520210

3. Check pre-conditions, main-only, mode, registry filters

Registry filters:

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

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

78

4. Check minimum number of events

None

78

5. Include endpoints

None

78

6. Filter based on genotype QC (FinnGen only)

78

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
DF4
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-

Key figures

All Female Male
Number of individuals
Whole population 1551 578 972
Only index persons 1116 439 677
Unadjusted period prevalence (%)
Whole population 0.02 0.02 0.03
Only index persons 0.02 0.02 0.03
Median age at first event (years)
Whole population 2.12 3.83 1.06
Only index persons 4.99 9.40 2.12

-FinnGen-

Key figures

All Female Male
Number of individuals 78 51 27
Unadjusted period prevalence (%) 0.02 0.02 0.01
Median age at first event (years) 21.64 16.34 31.63

-FinRegistry-

Age distribution of first events

-FinnGen-

Age distribution of first events

-FinRegistry-

Year distribution of first events

-FinnGen-

Year distribution of first events

-FinRegistry-

Cumulative Incidence Function

-FinnGen-

Cumulative Incidence Function

No data

CodeWAS (R11)

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
70
Matched controls
700
Code
Vocabulary
Description
Odds Ratio
-log10(p)
N matched cases
N matched controls
Q70.9
ICD-10 Finland
Syndactyly, unspecified
+∞
35.4
31
*
Q70.1
ICD-10 Finland
Webbed fingers
+∞
16.3
15
*
Q70.0
ICD-10 Finland
Fused fingers
+∞
12.9
12
*
NDT38
NOMESCO Finland
Correction of joined fingers
+∞
11.8
11
*
Q70.3
ICD-10 Finland
Webbed toes
+∞
11.8
11
*
7551A
ICD-9 Finland
Other congenital anomalies of limbs, Syndactyly[SYNDACTYLIA]
+∞
8.5
8
*
9493
FHL
Reconstruction or shaping of hand skin and soft tissues, e.g. syndactyl
+∞
7.4
7
*
G70.0
ICD-10 Finland
Myasthenia gravis
+∞
6.3
6
*
108
Kela drug reimbursment
Myasthenia gravis
+∞
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
23
111
2.52
3.13
3.9
3.6
—
—
—
0
0
17
71
2.78
3.06
2.4
1.4
—
—
—
0
0
31
175
2.28
2.97
6.5
5.4
1.1
1.1
inr
—
7
49
8
18
4.82
2.88
7.3
2.4
0.5
0.6
%
—
8
18
14
55
2.88
2.80
6.9
4.7
—
—
—
0
0
8
20
4.33
2.65
7.6
2.8
126.5
137.1
g/l
—
8
20
18
91
2.27
2.17
5.1
2.5
305.3
298.0
ng/l
0.01
12
50
5
12
4.37
1.85
1.4
2.1
—
—
—
0
0
27
172
1.87
1.75
3.1
2.9
14.9
63.6
e6/l
0.75
21
126
6
19
3.33
1.69
1.8
1.9
—
—
—
0
0
31
209
1.80
1.67
6.8
5.4
—
—
—
0
0
5
14
3.74
1.64
1.2
1.2
—
—
—
0
0
24
152
1.84
1.56
2.5
2.9
0.2
0.2
e6/l
0.04
15
109
14
238
0.50
1.55
1.6
1.8
—
—
—
0
0
10
46
2.35
1.47
1.8
1.2
—
—
—
0
0
29
203
1.68
1.32
3.8
3.5
13.6
22.1
e6/l
0.48
21
130
21
139
1.70
1.16
3.7
2.3
17.9
51.5
ng/l
—
10
66
7
31
2.38
1.13
1.0
1.2
—
—
—
0
0
12
67
1.93
1.12
1.7
2.3
2.7
2.5
g/l
0.78
12
61
13
75
1.88
1.11
1.7
1.6
861538811.1
457.2
pmol/l
0.78
13
66
5
21
2.47
1.10
1.0
1.2
—
—
—
0
0
5
22
2.36
1.05
79.8
10.0
—
—
—
0
0
26
187
1.59
1.04
11.0
4.8
36.3
37.5
g/l
0.48
26
181
22
152
1.62
1.03
2.5
2.7
—
—
—
0
0
13
78
1.80
0.99
11.5
3.6
0.8
0.8
mmol/l
0.31
13
73
8
42
2.01
0.92
1.6
1.3
—
—
—
0
0
8
48
1.74
0.81
58.6
7.2
23.9
24.3
mmol/l
—
8
48
6
34
1.83
0.78
2.5
3.1
—
0.4
—
0
5
12
76
1.68
0.77
1.7
2.3
16.3
15.7
umol/l
0.07
12
68
16
110
1.57
0.76
4.5
2.3
0.8
0.7
mg/l
0.18
11
74
9
56
1.69
0.75
49.3
8.7
—
—
—
0
0
20
149
1.46
0.66
5.7
7.3
—
—
—
0
0
5
30
1.71
0.62
1.0
1.3
—
—
—
0
0
20
151
1.44
0.62
2.7
2.6
—
—
—
0
0
0
20
0.00
0.61
0.0
1.8
—
1.2
—
0
20
0
20
0.00
0.61
0.0
1.8
—
0.2
—
0
20
61
654
0.69
0.58
24.0
11.1
39.1
40.3
%
0.58
46
556
11
156
0.66
0.57
2.5
2.6
7.4
8.6
mmol/l
0.43
11
137
6
97
0.59
0.56
1.3
1.2
—
—
—
0
0
15
109
1.47
0.56
3.3
2.6
—
—
—
0
0
33
278
1.32
0.53
4.8
5.5
9.4
10.4
umol/l
0.35
33
258
17
216
0.73
0.49
2.0
2.1
—
—
—
0
0
7
49
1.47
0.47
13.4
1.9
10.0
10.1
g/l
—
7
44
23
188
1.32
0.44
2.7
2.2
—
—
—
0
0
10
137
0.69
0.44
1.4
1.7
—
—
—
0
0
0
15
0.00
0.41
0.0
1.2
—
—
—
0
0
0
15
0.00
0.41
0.0
1.3
—
—
—
0
0
9
65
1.43
0.40
2.9
1.2
—
—
—
0
0
68
645
1.42
0.40
16.9
9.8
29.7
21.7
mg/l
0.81
52
470
9
67
1.39
0.40
1.1
1.2
—
—
—
0
0
34
297
1.26
0.39
7.6
5.2
0.7
0.7
%
0.23
34
278
10
72
1.45
0.39
2.6
1.8
—
—
—
0
0
6
42
1.46
0.36
6.3
5.5
—
—
—
0
0
6
43
1.43
0.36
67.0
8.4
-0.4
1.1
mmol/l
—
6
37
33
290
1.24
0.35
3.5
2.9
0.0
0.0
estimate
—
6
56
6
44
1.39
0.35
1.7
3.4
4.7
4.9
pmol/l
—
6
39
6
44
1.39
0.35
1.7
1.5
1.2
1.1
g/l
—
6
39
6
45
1.36
0.34
2.0
2.3
—
21.1
—
0
5
51
547
0.80
0.34
3.0
2.9
1.1
1.2
mmol/l
0.24
51
513
16
129
1.30
0.33
2.9
2.2
87.1
219.9
u/l
1.50
16
129
21
180
1.23
0.27
1.9
1.7
104.9
96.1
pmol/l
0.36
15
96
27
239
1.20
0.26
3.5
2.7
—
—
—
0
0
32
289
1.18
0.24
5.1
4.3
0.0
0.0
estimate
—
6
55
5
37
1.37
0.24
1.2
6.5
—
—
—
0
0
5
40
1.27
0.23
1.2
4.1
1.9
12.0
ug/l
—
5
30
0
11
0.00
0.21
0.0
1.3
—
—
—
0
0
0
11
0.00
0.21
0.0
9.8
—
0.6
—
0
11
0
10
0.00
0.21
0.0
1.3
—
—
—
0
0
0
12
0.00
0.21
0.0
3.6
—
17.5
—
0
12
38
352
1.16
0.20
2.7
2.7
—
—
—
0
0
32
294
1.15
0.19
3.6
3.0
0.0
0.0
estimate
—
6
55
23
253
0.87
0.16
1.9
2.1
—
—
—
0
0
5
43
1.17
0.10
6.2
5.7
23.9
24.0
mmol/l
—
5
43
11
97
1.16
0.09
1.2
2.2
—
—
—
0
0
15
136
1.13
0.09
3.7
2.7
—
—
—
0
0
20
186
1.10
0.08
1.5
1.4
2.4
2.1
g/l
0.26
11
107
7
68
1.03
0.08
1.1
1.2
—
—
—
0
0
6
74
0.80
0.08
1.0
1.3
—
—
—
0
0
9
83
1.10
0.07
1.1
1.2
—
—
—
0
0
26
247
1.08
0.06
1.7
1.7
—
—
—
0
0
10
110
0.90
0.05
1.7
1.3
27.6
19.6
nmol/l
—
10
91
15
140
1.09
0.05
4.1
3.1
0.0
0.0
estimate
—
6
55
18
171
1.07
0.03
3.1
2.6
—
—
—
0
0
22
213
1.05
0.01
1.6
1.7
—
—
—
0
0
18
186
0.96
0.00
1.5
1.7
—
—
—
0
0
12
122
0.98
0.00
1.8
1.4
—
—
—
0
0
43
429
1.01
0.00
3.9
3.9
—
—
—
0
0
15
145
1.04
0.00
4.5
3.6
—
—
—
0
0
0
6
0.00
0.00
0.0
1.0
—
—
—
0
0
0
6
0.00
0.00
0.0
14.7
—
1041.7
—
0
6
0
6
0.00
0.00
0.0
24.2
—
1982.7
—
0
6
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
6
0.00
0.00
0.0
5.5
—
0.9
—
0
6
0
6
0.00
0.00
0.0
1.0
—
—
—
0
0
0
6
0.00
0.00
0.0
1.7
—
44.8
—
0
6
0
7
0.00
0.00
0.0
1.3
—
—
—
0
0
0
9
0.00
0.00
0.0
1.0
—
—
—
0
0
0
5
0.00
0.00
0.0
1.6
—
89.1
—
0
5
0
7
0.00
0.00
0.0
1.1
—
—
—
0
0
0
5
0.00
0.00
0.0
1.4
—
—
—
0
0
5
50
1.00
0.00
3.0
3.1
—
—
—
0
0
0
8
0.00
0.00
0.0
1.9
—
51.5
—
0
8
0
7
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
1.6
—
—
—
0
0
0
5
0.00
0.00
0.0
3.6
—
—
—
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
1.2
—
—
—
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
3.4
—
—
—
0
0
0
9
0.00
0.00
0.0
1.0
—
—
—
0
0
0
5
0.00
0.00
0.0
1.0
—
—
—
0
0
0
8
0.00
0.00
0.0
1.0
—
—
—
0
0
69
688
1.03
0.00
12.9
8.6
—
—
—
0
0
0
7
0.00
0.00
0.0
1.6
—
1.2
—
0
7
0
5
0.00
0.00
0.0
1.0
—
—
—
0
0
0
5
0.00
0.00
0.0
1.0
—
—
—
0
0

Mortality – FinRegistry

Association

Association between endpoint Q17_SYNDACTYLY and mortality.

Females

No data

Males

No data

Mortality risk

Mortality risk for people of age

years, who have Q17_SYNDACTYLY.

N-year risk Females Males
1 No data No data
5 No data No data
10 No data No data
15 No data No data
20 No data No data

Relationships between endpoints

Index endpoint: Q17_SYNDACTYLY – Syndactyly

GWS hits: -

Endpoint
Case Overlap
Survival Analysis
Genetic Correlations
Genetic Signals
N (Jaccard index)
HR [CI]
rg [CI]
Hits
Coloc Hits
FinRegistry
FinnGen
FinRegistry
FinnGen
FinnGen
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