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

557745

1. Apply sex-specific rule

None

557745

2. Check conditions

None

557745

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.

90

4. Check minimum number of events

None

90

5. Include endpoints

None

90

6. Filter based on genotype QC (FinnGen only)

80

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 80 42 38
Unadjusted period prevalence (%) 0.02 0.01 0.02
Median age at first event (years) 27.54 21.99 33.67

-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
85
Matched controls
850
Code
Vocabulary
Description
Odds Ratio
-log10(p)
N matched cases
N matched controls
Q78.6
ICD-10 Finland
Multiple congenital exostoses
+∞
119.4
84
*
NFR20
NOMESCO Finland
Incomplete excision of soft tissue tumour of hip or thigh
151.4
12.8
13
*
D16.2
ICD-10 Finland
Benign neoplasm: Long bones of lower limb
62.4
9.9
11
*
D48.0
ICD-10 Finland
Neoplasm of uncertain or unknown behaviour: Bone and articular cartilage
27.6
9.2
12
5
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
*
NBR20
NOMESCO Finland
Intralesional or marginal excision of soft tissue tumour of shoulder or upper arm
75.3
6.5
7
*
M85.8
ICD-10 Finland
Other specified disorders of bone density and structure
+∞
6.3
6
*
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
43
267
2.24
3.27
2.4
1.8
—
—
—
0
0
17
72
2.70
2.95
1.4
1.2
—
—
—
0
0
35
225
1.94
2.24
2.6
2.3
—
—
—
0
0
12
51
2.58
2.06
3.0
2.8
—
—
—
0
0
38
258
1.86
2.02
4.9
5.3
36.02
37.51
g/l
0.96
38
247
46
336
1.80
1.90
2.9
2.8
—
—
estimate
—
0
0
13
62
2.29
1.76
8.6
18.9
7.41
7.42
ph
—
6
39
15
77
2.15
1.72
8.8
9.7
102.40
104.26
mmol/l
0.49
15
77
7
26
2.84
1.62
4.0
17.9
24.29
23.89
mmol/l
—
7
26
36
255
1.71
1.58
1.9
1.8
104.41
96.51
pmol/l
0.35
18
139
0
43
0.00
1.57
0.0
1.6
—
1.36
—
0
30
0
44
0.00
1.56
0.0
1.6
—
—
—
0
0
0
45
0.00
1.55
0.0
1.7
—
—
—
0
0
11
52
2.28
1.52
2.4
1.5
—
—
—
0
0
58
474
1.70
1.45
4.6
4.0
—
—
—
0
0
16
91
1.93
1.41
1.5
2.3
28.48
29.14
s
0.20
16
91
15
85
1.93
1.33
2.1
2.7
—
—
—
0
0
26
176
1.69
1.31
5.1
3.6
7.38
7.39
ph
0.77
19
132
30
212
1.64
1.29
8.5
5.3
—
—
—
0
0
10
50
2.13
1.22
2.2
1.6
—
—
—
0
0
12
65
1.99
1.20
2.5
1.4
—
—
—
0
0
16
99
1.76
1.09
3.3
2.6
2.45
2.41
mmol/l
0.49
16
89
24
167
1.61
1.08
4.2
3.0
—
—
—
0
0
9
48
1.98
1.04
1.2
1.3
—
—
—
0
0
24
169
1.59
1.03
2.1
2.0
198.75
200.74
u/l
0.01
24
163
12
69
1.86
1.03
2.5
1.4
—
—
—
0
0
12
70
1.83
0.98
2.5
1.4
—
—
—
0
0
12
70
1.83
0.98
2.3
1.4
—
—
—
0
0
12
70
1.83
0.98
2.4
1.4
—
—
—
0
0
6
30
2.07
0.89
3.0
1.6
—
—
—
0
0
19
131
1.58
0.88
1.4
1.3
10.60
26.46
iu/ml
—
5
39
13
81
1.71
0.87
1.5
1.7
—
—
—
0
0
26
195
1.48
0.83
4.5
3.0
0.00
0.02
estimate
—
8
66
36
289
1.43
0.81
3.6
2.7
0.00
0.00
estimate
—
6
59
0
24
0.00
0.80
0.0
1.2
—
—
—
0
0
6
34
1.82
0.78
2.0
1.9
—
—
—
0
0
5
23
2.24
0.77
1.4
1.4
—
—
—
0
0
45
381
1.38
0.73
9.2
5.9
0.18
0.19
e9/l
0.09
39
347
45
381
1.38
0.73
3.6
2.9
0.00
0.00
estimate
—
8
68
45
381
1.38
0.73
3.6
2.8
0.00
0.00
estimate
—
7
71
21
155
1.47
0.72
2.1
1.5
18.23
21.01
nmol/l
0.55
21
137
44
372
1.38
0.71
9.4
5.8
1.86
1.94
e9/l
0.42
39
344
37
304
1.38
0.71
2.8
2.6
6.36
6.19
ph
0.38
18
175
43
363
1.37
0.70
9.5
5.6
0.55
0.54
e9/l
0.08
37
327
53
463
1.38
0.70
4.5
3.4
—
—
—
0
0
43
364
1.37
0.68
9.5
5.6
0.04
0.04
e9/l
0.04
37
326
12
174
0.64
0.68
2.1
1.8
—
—
—
0
0
21
157
1.45
0.68
2.5
2.5
—
—
—
0
0
7
44
1.64
0.67
1.4
1.7
—
—
—
0
0
45
386
1.35
0.65
3.7
3.0
0.00
0.00
estimate
—
7
66
63
570
1.41
0.64
5.0
4.1
14.57
14.64
pmol/l
0.09
57
528
8
49
1.70
0.64
1.0
3.1
1.92
1.56
%
—
8
44
19
141
1.45
0.63
1.6
1.6
—
—
—
0
0
33
271
1.36
0.62
4.1
10.2
1.05
1.13
inr
0.96
26
228
30
243
1.36
0.62
3.9
3.0
4.23
33.05
e6/l
3.56
22
173
22
169
1.41
0.61
5.1
2.8
1.02
1.02
kg/l
0.11
14
108
0
20
0.00
0.61
0.0
1.4
—
—
—
0
0
8
53
1.56
0.60
4.4
11.2
—
—
—
0
0
26
207
1.37
0.59
3.5
2.6
14.28
64.15
e6/l
1.95
19
166
8
54
1.53
0.59
1.1
1.1
—
—
—
0
0
6
97
0.59
0.56
2.3
2.2
2.72
2.36
g/l
—
6
90
22
172
1.38
0.56
3.2
2.6
0.10
0.22
e6/l
0.65
16
132
15
110
1.44
0.53
5.1
3.8
0.76
0.81
mmol/l
0.94
15
104
7
45
1.60
0.50
1.1
1.1
1.08
0.90
g/l
—
7
45
7
45
1.60
0.50
1.1
1.1
1.43
1.60
g/l
—
7
45
5
83
0.58
0.48
2.4
2.3
21.38
24.57
%
—
5
78
7
48
1.50
0.48
1.4
4.7
4.17
4.58
pmol/l
—
7
43
12
161
0.70
0.46
1.5
1.6
—
—
—
0
0
30
253
1.29
0.46
1.7
1.6
—
—
—
0
0
11
78
1.47
0.46
1.3
1.3
—
—
—
0
0
0
16
0.00
0.41
0.0
1.7
—
3.20
—
0
10
21
171
1.30
0.41
3.1
2.6
—
—
estimate
—
0
0
0
18
0.00
0.40
0.0
2.9
—
9.22
—
0
18
5
35
1.45
0.40
5.4
17.7
—
—
—
0
0
29
334
0.80
0.38
2.0
2.6
—
—
—
0
0
80
773
1.59
0.37
21.6
13.9
74.50
73.56
umol/l
0.13
80
764
19
155
1.29
0.36
5.4
3.9
—
—
—
0
0
6
87
0.67
0.35
1.3
1.9
3.95
3.36
mmol/l
—
6
60
7
53
1.35
0.32
2.4
1.5
240.00
317.96
mu/l
—
7
46
46
421
1.20
0.31
13.2
8.9
3.87
4.04
e9/l
0.29
40
373
14
112
1.30
0.30
4.5
2.7
1.03
0.85
ug/l
—
8
60
22
189
1.22
0.28
3.3
2.9
—
—
—
0
0
18
209
0.82
0.24
1.8
1.8
—
—
—
0
0
5
38
1.34
0.23
3.6
7.3
25.48
24.93
mmol/l
—
5
38
21
183
1.20
0.23
3.8
3.2
66.44
81.26
mg/l
0.14
15
126
5
40
1.27
0.23
1.0
1.1
—
—
—
0
0
24
213
1.18
0.22
9.6
5.3
—
—
—
0
0
0
11
0.00
0.21
0.0
1.2
—
65.23
—
0
11
0
11
0.00
0.21
0.0
3.0
—
24.17
—
0
6
0
10
0.00
0.21
0.0
2.2
—
—
—
0
0
0
10
0.00
0.21
0.0
1.3
—
92.47
—
0
10
0
10
0.00
0.21
0.0
1.5
—
—
—
0
0
0
12
0.00
0.21
0.0
1.3
—
205.66
—
0
12
0
12
0.00
0.21
0.0
1.2
—
—
—
0
0
0
12
0.00
0.21
0.0
1.4
—
139.86
—
0
7
0
12
0.00
0.21
0.0
3.0
—
—
—
0
0
0
12
0.00
0.21
0.0
1.3
—
—
—
0
0
0
12
0.00
0.21
0.0
3.0
—
4.68
—
0
12
0
13
0.00
0.21
0.0
3.2
—
60.88
—
0
13
40
371
1.15
0.20
2.5
3.1
82.99
90.23
ug/l
0.19
40
359
21
185
1.18
0.20
4.2
3.8
11.87
12.49
mg/mmol
0.03
14
124
0
14
0.00
0.20
0.0
1.5
—
10.24
—
0
14
0
14
0.00
0.20
0.0
1.0
—
—
—
0
0
13
109
1.23
0.20
1.7
1.7
700000337.00
119388207.98
pmol/l
0.37
13
98
18
205
0.85
0.20
6.4
4.1
—
—
—
0
0
10
82
1.25
0.18
1.7
1.2
—
—
—
0
0
27
254
1.09
0.09
2.4
2.1
—
—
—
0
0
24
226
1.09
0.07
4.7
3.2
38.52
19.27
ng/l
0.66
16
121
8
76
1.06
0.07
1.3
1.6
—
—
—
0
0
69
677
1.10
0.07
19.7
14.9
332.09
334.37
g/l
1.44
69
677
7
84
0.82
0.07
1.1
1.2
—
—
—
0
0
8
92
0.86
0.07
1.6
2.1
—
—
—
0
0
34
326
1.07
0.07
9.3
8.7
0.00
0.00
e9/l
-0.00
26
264
72
712
1.07
0.03
20.5
13.4
3.96
3.94
mmol/l
0.25
72
699
11
117
0.93
0.02
1.5
1.3
—
—
—
0
0
21
212
0.99
0.00
3.6
2.6
52.10
73.23
u/l
0.52
21
201
19
187
1.02
0.00
1.2
1.4
2.01
2.24
g/l
0.31
11
112
21
209
1.01
0.00
2.8
2.3
0.00
0.00
estimate
—
6
57
73
734
0.96
0.00
19.0
11.8
25.76
22.87
mg/l
0.27
61
589
0
7
0.00
-0.00
0.0
2.3
—
—
—
0
0
0
8
0.00
-0.00
0.0
2.3
—
1.61
—
0
8
0
5
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
9
0.00
-0.00
0.0
2.2
—
—
—
0
0
0
9
0.00
-0.00
0.0
2.3
—
16.84
—
0
9
0
5
0.00
-0.00
0.0
2.8
—
—
—
0
0
0
7
0.00
-0.00
0.0
1.1
—
—
—
0
0
0
5
0.00
-0.00
0.0
2.2
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.2
—
33.83
—
0
6
0
7
0.00
-0.00
0.0
1.1
—
—
—
0
0
0
9
0.00
-0.00
0.0
1.3
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.2
—
—
—
0
0
0
7
0.00
-0.00
0.0
1.1
—
10.69
—
0
7
9
91
0.99
-0.00
1.2
1.3
—
—
—
0
0
78
776
1.06
-0.00
13.4
10.7
—
—
—
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
5
0.00
-0.00
0.0
15.0
—
10.02
—
0
5
0
6
0.00
-0.00
0.0
1.2
—
—
—
0
0
0
8
0.00
-0.00
0.0
2.0
—
90.49
—
0
8
5
58
0.85
-0.00
4.6
3.5
5.70
5.72
kpa
—
5
58
7
77
0.90
-0.00
2.4
1.6
—
—
—
0
0
15
150
1.00
-0.00
3.3
2.2
5.57
6.27
e6/l
0.09
15
140
0
8
0.00
-0.00
0.0
1.5
—
1950.63
—
0
8
0
5
0.00
-0.00
0.0
1.8
—
33.86
—
0
5
0
5
0.00
-0.00
0.0
2.4
—
0.96
—
0
5
0
7
0.00
-0.00
0.0
1.1
—
115.29
—
0
7
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

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: 1

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