Multiple congenital exostoses

Q17_MULTIPLE_CONGENITAL_EXOSTOSES

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:

  • Hospital discharge: ICD-10 Q78.6
  • Cause of death: ICD-10 Q78.6

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

82

4. Check minimum number of events

None

82

5. Include endpoints

None

82

6. Filter based on genotype QC (FinnGen only)

77

Control definitions (FinnGen only)

Controls for this endpoint are individuals that are not cases.

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 77 41 36
Unadjusted period prevalence (%) 0.02 0.01 0.02
Median age at first event (years) 25.46 21.35 30.13

-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
82
Matched controls
820
Code
Vocabulary
Description
Odds Ratio
-log10(p)
N matched cases
N matched controls
Q78.6
ICD-10 Finland
Multiple congenital exostoses
+∞
115.1
81
*
NFR20
NOMESCO Finland
Incomplete excision of soft tissue tumour of hip or thigh
138.7
11.8
12
*
D16.2
ICD-10 Finland
Benign neoplasm: Long bones of lower limb
56.2
8.9
10
*
D48.0
ICD-10 Finland
Neoplasm of uncertain or unknown behaviour: Bone and articular cartilage
25.1
8.3
11
5
NBR20
NOMESCO Finland
Intralesional or marginal excision of soft tissue tumour of shoulder or upper arm
+∞
7.4
7
*
NFK10
NOMESCO Finland
Fenestration or partial or total excision of bone of femur
+∞
7.4
7
*
NGR20
NOMESCO Finland
Intralesional or marginal excision of tumor of knee or lower leg
+∞
7.4
7
*
75665
ICD-8 Finland
Other congenital anomalies of musculoskeletal system, Exostosis cartilaginea multiplex
+∞
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
41
227
2.61
4.36
2.2
1.7
—
—
—
0
0
15
55
3.11
3.37
1.5
1.1
—
—
—
0
0
31
186
2.07
2.45
1.7
1.6
107.09
97.90
pmol/l
0.34
15
100
31
187
2.06
2.41
2.5
2.3
—
—
—
0
0
14
60
2.61
2.37
4.5
9.4
103.14
104.25
mmol/l
0.34
14
60
34
216
1.98
2.27
4.1
4.7
35.92
37.44
g/l
0.98
34
207
12
49
2.70
2.22
3.0
2.9
—
—
—
0
0
6
16
3.96
1.97
4.2
24.0
24.50
24.76
mmol/l
—
6
16
0
42
0.00
1.58
0.0
1.4
—
—
—
0
0
0
42
0.00
1.58
0.0
1.4
—
—
—
0
0
0
43
0.00
1.57
0.0
1.5
—
—
—
0
0
22
139
1.80
1.42
2.2
2.5
—
—
—
0
0
14
77
1.99
1.35
3.0
2.7
2.46
2.40
mmol/l
0.68
14
68
10
48
2.23
1.34
2.5
1.4
—
—
—
0
0
41
313
1.62
1.31
8.5
5.5
0.19
0.19
e9/l
0.01
36
289
53
432
1.64
1.29
4.5
3.7
—
—
—
0
0
59
495
1.68
1.28
4.3
3.7
14.49
14.63
pmol/l
0.18
54
458
31
225
1.61
1.20
3.3
10.1
1.00
1.10
inr
—
9
69
8
39
2.16
1.19
2.8
1.5
—
—
—
0
0
8
40
2.11
1.15
2.5
1.5
—
—
—
0
0
39
303
1.55
1.11
8.9
5.2
0.54
0.55
e9/l
0.02
34
276
39
303
1.55
1.11
8.9
5.2
0.04
0.04
e9/l
0.07
34
275
48
393
1.53
1.07
4.0
3.1
—
—
—
0
0
10
53
2.01
1.06
2.5
1.4
—
—
—
0
0
10
53
2.01
1.06
2.3
1.3
—
—
—
0
0
10
53
2.01
1.06
2.4
1.4
—
—
—
0
0
44
354
1.52
1.06
4.2
5.9
6.45
6.36
mmol/l
0.08
39
319
5
22
2.35
1.05
3.2
1.5
—
—
—
0
0
12
69
1.87
1.03
1.8
2.8
—
—
—
0
0
18
118
1.67
1.02
4.9
3.8
—
—
—
0
0
10
54
1.97
1.01
2.5
1.4
—
—
—
0
0
23
161
1.60
1.01
4.5
2.9
0.00
0.02
estimate
—
8
54
6
28
2.23
0.93
2.0
1.5
—
—
—
0
0
12
72
1.78
0.91
1.3
1.7
—
—
—
0
0
18
124
1.58
0.84
1.4
1.6
—
—
—
0
0
20
142
1.54
0.82
2.1
2.0
204.85
216.31
u/l
0.04
20
136
0
24
0.00
0.80
0.0
3.8
—
24.33
—
0
24
0
24
0.00
0.80
0.0
1.2
—
—
—
0
0
36
290
1.43
0.80
8.9
5.3
—
—
—
0
0
19
135
1.53
0.78
4.0
2.9
—
—
—
0
0
18
127
1.53
0.76
2.8
3.1
83.12
133.72
mg/l
0.31
13
81
11
68
1.71
0.76
1.2
1.2
—
—
—
0
0
5
25
2.06
0.74
2.2
2.2
—
—
—
0
0
7
40
1.82
0.73
1.1
1.3
—
—
—
0
0
21
155
1.48
0.72
7.0
5.6
—
—
—
0
0
5
26
1.98
0.72
4.8
29.7
—
—
—
0
0
7
42
1.73
0.70
3.4
7.0
—
—
—
0
0
43
364
1.38
0.70
12.6
7.6
3.89
4.15
e9/l
0.48
37
327
7
43
1.69
0.69
4.6
11.7
—
—
—
0
0
5
28
1.84
0.67
1.0
2.6
77.70
70.70
e9/l
—
5
23
7
44
1.64
0.67
2.1
1.4
240.00
284.50
mu/l
—
7
38
0
21
0.00
0.61
0.0
1.4
—
—
—
0
0
18
134
1.44
0.59
3.4
3.5
15.63
17.95
mg/mmol
0.08
12
87
6
37
1.67
0.57
1.0
1.1
—
—
—
0
0
6
37
1.67
0.57
2.3
2.2
—
—
—
0
0
9
129
0.66
0.48
1.7
1.6
—
—
—
0
0
19
149
1.36
0.47
2.8
2.5
—
—
—
0
0
13
95
1.44
0.47
1.3
1.2
10.60
30.20
iu/ml
—
5
31
11
150
0.69
0.46
2.1
1.7
—
—
—
0
0
14
105
1.40
0.45
1.9
1.4
19.59
21.24
nmol/l
0.20
14
90
35
304
1.26
0.42
3.8
2.7
0.00
0.00
estimate
—
8
58
5
33
1.55
0.42
5.4
18.2
—
—
—
0
0
0
16
0.00
0.41
0.0
1.8
—
—
—
0
0
0
17
0.00
0.41
0.0
1.4
—
—
—
0
0
0
17
0.00
0.41
0.0
1.0
—
—
—
0
0
0
18
0.00
0.40
0.0
1.1
—
0.43
—
0
12
0
18
0.00
0.40
0.0
1.0
—
4.77
—
0
11
0
18
0.00
0.40
0.0
1.0
—
0.96
—
0
10
26
219
1.27
0.40
1.8
1.6
—
—
—
0
0
9
69
1.34
0.39
1.8
1.1
—
—
—
0
0
5
77
0.63
0.38
2.2
1.7
2.64
2.49
g/l
—
5
69
23
192
1.28
0.37
3.5
2.8
5.38
140.64
e6/l
0.89
18
140
12
155
0.74
0.37
1.2
1.3
2.46
2.12
g/l
—
7
94
16
127
1.32
0.37
3.4
3.3
—
—
—
0
0
35
308
1.24
0.37
4.2
3.7
0.00
0.00
estimate
—
7
56
6
41
1.50
0.37
1.5
1.6
—
—
—
0
0
6
44
1.39
0.35
1.0
2.3
1.88
1.57
%
—
6
39
35
310
1.23
0.34
3.8
2.8
0.00
0.00
estimate
—
7
54
70
668
1.33
0.33
15.9
10.1
25.17
21.12
mg/l
0.38
57
504
66
629
1.25
0.28
16.3
12.8
332.89
334.19
g/l
0.63
66
629
5
39
1.30
0.23
1.0
1.4
—
—
—
0
0
11
89
1.27
0.22
1.6
1.7
827273065.82
467.80
pmol/l
0.47
11
79
0
11
0.00
0.21
0.0
2.9
—
26.83
—
0
6
0
11
0.00
0.21
0.0
1.0
—
—
—
0
0
0
11
0.00
0.21
0.0
3.5
—
53.18
—
0
11
0
11
0.00
0.21
0.0
1.4
—
200.63
—
0
11
0
11
0.00
0.21
0.0
3.2
—
4.59
—
0
11
0
11
0.00
0.21
0.0
1.1
—
1.58
—
0
5
0
10
0.00
0.21
0.0
3.2
—
—
—
0
0
0
10
0.00
0.21
0.0
3.8
—
—
—
0
0
0
10
0.00
0.21
0.0
1.2
—
—
—
0
0
0
10
0.00
0.21
0.0
1.4
—
70.20
—
0
10
0
12
0.00
0.21
0.0
1.3
—
—
—
0
0
0
12
0.00
0.21
0.0
3.9
—
9.44
—
0
12
0
13
0.00
0.21
0.0
1.0
—
—
—
0
0
0
13
0.00
0.21
0.0
1.5
—
9.88
—
0
13
0
14
0.00
0.20
0.0
1.0
—
1.63
—
0
9
25
225
1.16
0.19
2.1
2.0
—
—
—
0
0
5
66
0.74
0.17
2.4
1.5
—
—
—
0
0
5
67
0.73
0.17
2.0
1.8
21.08
26.82
%
—
5
59
8
72
1.12
0.16
1.4
1.3
—
—
—
0
0
24
260
0.89
0.13
1.5
2.3
—
—
—
0
0
30
280
1.11
0.13
7.4
6.4
0.00
0.00
e9/l
-0.00
23
224
16
177
0.88
0.11
3.3
2.2
—
—
—
0
0
20
185
1.11
0.09
4.5
3.3
175.61
20.41
ng/l
0.57
12
94
5
61
0.81
0.08
2.4
2.2
336.60
381.64
nmol/l
—
5
56
17
184
0.90
0.08
1.6
1.7
—
—
—
0
0
7
83
0.83
0.07
1.7
2.1
—
—
—
0
0
74
730
1.14
0.07
12.4
9.3
—
—
—
0
0
19
179
1.08
0.05
3.6
2.6
53.58
54.21
u/l
0.04
19
166
30
295
1.03
0.00
2.3
2.7
79.09
81.77
ug/l
0.05
30
280
12
121
0.99
0.00
2.8
2.1
6.40
5.60
e6/l
0.09
12
112
0
8
0.00
0.00
0.0
1.6
—
—
—
0
0
0
8
0.00
0.00
0.0
1.4
—
—
—
0
0
0
8
0.00
0.00
0.0
2.4
—
—
—
0
0
0
8
0.00
0.00
0.0
1.0
—
—
—
0
0
0
9
0.00
-0.00
0.0
15.4
—
1373.78
—
0
9
0
5
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
6
0.00
-0.00
0.0
2.8
—
—
—
0
0
11
110
1.00
-0.00
1.5
1.3
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.0
—
2.32
—
0
6
0
5
0.00
-0.00
0.0
1.2
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.2
—
34.00
—
0
5
0
5
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.3
—
—
—
0
0
0
9
0.00
-0.00
0.0
1.1
—
70.50
—
0
9
0
6
0.00
-0.00
0.0
1.2
—
116.00
—
0
6
0
6
0.00
-0.00
0.0
2.2
—
88.93
—
0
6
0
7
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
9
0.00
-0.00
0.0
13.2
—
777.67
—
0
9
6
63
0.95
-0.00
1.2
1.7
—
—
—
0
0
0
6
0.00
-0.00
0.0
2.0
—
8.82
—
0
6
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
7
0.00
-0.00
0.0
1.6
—
1929.29
—
0
7
0
7
0.00
-0.00
0.0
2.0
—
24.14
—
0
7
0
5
0.00
-0.00
0.0
1.0
—
12.02
—
0
5
0
6
0.00
-0.00
0.0
2.3
—
1.73
—
0
6
0
5
0.00
-0.00
0.0
2.8
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.6
—
—
—
0
0
0
6
0.00
-0.00
0.0
2.5
—
—
—
0
0

Mortality – FinRegistry

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

Relationships between endpoints

Index endpoint: Q17_MULTIPLE_CONGENITAL_EXOSTOSES – Multiple congenital exostoses

GWS hits: -

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