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Multiple congenital exostoses

Q17_MULTIPLE_CONGENITAL_EXOSTOSES_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 Q78.6
  • Hospital discharge: ICD-10 Q78.6
  • Cause of death: ICD-10 Q78.6

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

103

4. Check minimum number of events

None

103

5. Include endpoints

None

103

6. Filter based on genotype QC (FinnGen only)

97

Control definitions (FinnGen only)

Controls for this endpoint are individuals that are not cases.

Extra metadata

First used in FinnGen datafreeze
DF13

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 97 47 50
Unadjusted period prevalence (%) 0.02 0.02 0.02
Median age at first event (years) 34.35 22.63 45.36

-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
103
Matched controls
1030
Code
Vocabulary
Description
Odds Ratio
-log10(p)
N matched cases
N matched controls
Q78.6
ICD-10 Finland
Multiple congenital exostoses
+∞
145.5
102
*
NFR20
NOMESCO Finland
Incomplete excision of soft tissue tumour of hip or thigh
134.4
11.7
12
*
D16.2
ICD-10 Finland
Benign neoplasm: Long bones of lower limb
30.4
8.7
11
*
NFK10
NOMESCO Finland
Fenestration or partial or total excision of bone of femur
+∞
8.4
8
*
D48.0
ICD-10 Finland
Neoplasm of uncertain or unknown behaviour: Bone and articular cartilage
16.7
7.9
12
8
NBR20
NOMESCO Finland
Intralesional or marginal excision of soft tissue tumour of shoulder or upper arm
+∞
7.4
7
*
NGR20
NOMESCO Finland
Intralesional or marginal excision of tumor of knee or lower leg
+∞
7.4
7
*
9102
FHL
Trepanation or removal of the local bone process
43.0
6.9
8
*
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
52
284
2.68
5.67
2.2
1.8
—
—
—
0
0
41
237
2.21
3.59
2.2
2.3
—
—
—
0
0
41
239
2.19
3.50
1.7
1.8
103.28
97.35
pmol/l
0.31
23
123
49
317
2.04
3.12
5.1
8.7
1.22
1.21
mmol/l
0.44
44
270
16
66
2.69
2.88
1.4
1.2
—
—
—
0
0
17
78
2.41
2.47
3.9
9.6
102.76
104.14
mmol/l
0.48
17
78
30
189
1.83
1.92
3.1
3.7
7.38
7.40
ph
—
5
35
0
46
0.00
1.76
0.0
1.4
—
—
—
0
0
0
46
0.00
1.76
0.0
1.4
—
—
—
0
0
0
47
0.00
1.75
0.0
1.5
—
—
—
0
0
53
401
1.66
1.75
8.8
5.5
0.19
0.18
e9/l
0.11
47
365
11
49
2.39
1.70
1.2
1.4
—
—
—
0
0
8
31
2.71
1.70
1.8
1.5
—
—
—
0
0
66
531
1.68
1.70
4.3
3.9
—
—
—
0
0
51
389
1.62
1.59
8.9
5.2
0.04
0.04
e9/l
0.01
45
349
51
389
1.62
1.59
8.9
5.2
0.55
0.55
e9/l
0.01
45
349
12
58
2.21
1.56
3.0
2.9
—
—
—
0
0
52
406
1.57
1.42
8.8
5.3
1.81
1.93
e9/l
0.70
47
374
48
369
1.56
1.40
8.8
5.3
—
—
—
0
0
85
748
1.78
1.40
5.0
4.2
1.70
1.82
mu/l
0.54
80
698
73
618
1.62
1.40
4.4
3.7
14.63
14.64
pmol/l
0.01
66
569
61
500
1.54
1.30
3.9
3.2
—
—
—
0
0
28
192
1.63
1.30
2.7
2.8
0.08
0.26
e6/l
1.24
22
152
35
254
1.57
1.29
1.6
1.5
—
—
—
0
0
29
203
1.60
1.24
7.7
5.9
—
—
—
0
0
26
178
1.62
1.21
2.3
2.7
—
—
—
0
0
28
196
1.59
1.19
4.0
3.0
0.00
0.01
estimate
—
10
67
14
81
1.84
1.16
1.1
1.3
—
—
—
0
0
61
511
1.48
1.10
4.0
3.5
—
13.33
—
0
6
67
572
1.49
1.10
5.0
3.4
10.37
8.96
mm/h
0.34
62
536
5
22
2.34
1.04
2.4
1.6
—
—
—
0
0
23
159
1.57
1.03
5.3
4.9
—
—
—
0
0
11
61
1.90
1.03
2.4
1.9
—
—
—
0
0
27
194
1.53
1.02
2.6
2.7
—
—
—
0
0
39
303
1.46
1.02
3.5
12.0
1.01
1.20
inr
2.72
11
96
22
151
1.58
1.01
1.5
1.6
—
—
—
0
0
9
50
1.88
0.99
2.3
2.6
—
—
—
0
0
9
50
1.88
0.99
1.9
1.4
230.11
302.98
mu/l
—
9
44
54
449
1.43
0.97
4.2
5.6
6.39
6.53
mmol/l
0.17
49
408
9
51
1.84
0.97
1.6
1.6
—
—
—
0
0
29
214
1.49
0.97
3.0
3.0
6.89
7.58
mmol/l
0.28
23
188
6
27
2.30
0.95
2.8
2.6
—
—
—
0
0
6
28
2.21
0.93
1.7
4.5
—
—
—
0
0
28
209
1.47
0.89
2.9
2.8
13.62
63.73
e6/l
2.12
22
168
8
45
1.84
0.86
1.1
1.1
—
—
—
0
0
6
31
1.99
0.86
2.0
2.5
—
—
—
0
0
32
247
1.43
0.85
3.1
3.1
5.58
116.21
e6/l
0.95
24
179
0
25
0.00
0.80
0.0
1.2
—
—
—
0
0
11
67
1.72
0.78
2.2
1.8
—
—
—
0
0
11
67
1.72
0.78
2.3
1.8
—
—
—
0
0
11
67
1.72
0.78
2.4
1.9
—
—
—
0
0
23
169
1.46
0.78
3.5
2.9
—
—
—
0
0
16
109
1.55
0.76
3.0
2.9
2.45
2.42
mmol/l
0.40
16
94
11
68
1.69
0.75
2.4
1.8
—
—
—
0
0
54
465
1.34
0.72
12.3
7.7
3.77
4.07
e9/l
0.71
47
412
14
94
1.57
0.71
1.5
1.6
—
—
—
0
0
25
191
1.41
0.70
2.2
2.0
181.96
201.16
u/l
0.10
25
183
14
95
1.55
0.68
1.8
2.5
—
—
—
0
0
22
165
1.42
0.68
2.6
3.3
84.61
119.93
mg/l
0.25
14
109
7
44
1.63
0.66
2.1
2.2
—
—
—
0
0
10
151
0.63
0.66
1.7
1.5
—
—
—
0
0
8
50
1.65
0.63
2.8
2.1
—
—
—
0
0
5
30
1.70
0.62
7.6
5.1
—
—
—
0
0
0
20
0.00
0.61
0.0
1.0
—
0.90
—
0
11
0
20
0.00
0.61
0.0
1.0
—
4.15
—
0
13
0
20
0.00
0.61
0.0
1.1
—
0.40
—
0
13
6
36
1.71
0.58
2.0
2.5
0.63
0.72
%
—
6
36
9
61
1.52
0.55
3.8
11.4
—
—
—
0
0
44
379
1.28
0.55
3.3
2.7
0.00
0.00
estimate
—
10
73
6
38
1.61
0.55
2.0
2.5
1.18
1.69
%
—
6
38
9
62
1.49
0.55
3.4
5.8
—
—
—
0
0
42
360
1.28
0.55
8.4
7.0
0.00
0.00
e9/l
-0.00
35
285
6
40
1.53
0.52
2.8
7.5
25.02
25.59
mmol/l
—
6
40
44
383
1.26
0.50
3.8
3.8
0.00
0.00
estimate
—
9
70
16
120
1.39
0.50
1.3
1.2
10.60
26.97
iu/ml
—
5
39
95
912
1.54
0.49
12.5
10.1
—
—
—
0
0
22
175
1.33
0.48
3.4
3.8
13.73
15.91
mg/mmol
0.09
14
118
89
846
1.38
0.47
15.5
11.0
26.71
21.07
mg/l
0.67
73
647
11
78
1.46
0.45
1.2
1.7
—
—
—
0
0
44
388
1.23
0.43
3.3
2.8
0.00
0.00
estimate
—
8
67
12
88
1.41
0.42
1.8
1.2
—
—
—
0
0
0
15
0.00
0.41
0.0
1.0
—
1.63
—
0
9
0
16
0.00
0.41
0.0
1.0
—
—
—
0
0
5
36
1.41
0.38
4.8
23.9
—
—
—
0
0
6
41
1.49
0.37
1.2
2.2
73.08
73.35
e9/l
—
6
32
6
41
1.49
0.37
4.7
15.1
—
—
—
0
0
6
86
0.68
0.34
2.2
1.6
—
—
—
0
0
6
46
1.32
0.33
1.0
1.2
—
—
—
0
0
12
94
1.31
0.29
1.3
1.3
—
—
—
0
0
16
131
1.26
0.29
4.8
2.5
0.99
0.74
ug/l
0.33
11
74
21
178
1.23
0.29
3.6
3.5
—
—
—
0
0
8
63
1.29
0.28
1.1
1.9
10.84
10.21
g/l
—
8
57
14
167
0.81
0.24
2.1
1.7
—
—
—
0
0
26
230
1.17
0.24
3.2
2.7
51.58
53.69
u/l
0.17
26
213
8
105
0.74
0.22
1.7
1.9
2.74
2.41
g/l
—
8
95
5
42
1.20
0.22
1.0
1.1
—
—
—
0
0
0
11
0.00
0.21
0.0
2.0
—
—
—
0
0
0
10
0.00
0.21
0.0
2.7
—
24.90
—
0
10
29
261
1.15
0.21
2.2
2.0
—
—
—
0
0
0
12
0.00
0.21
0.0
2.3
—
129.33
—
0
6
0
12
0.00
0.21
0.0
1.1
—
1.58
—
0
5
0
12
0.00
0.21
0.0
1.2
—
—
—
0
0
6
47
1.29
0.21
2.2
3.3
1.24
1.23
mmol/l
—
6
41
0
13
0.00
0.21
0.0
2.8
—
26.83
—
0
6
6
49
1.24
0.20
1.2
1.4
—
—
—
0
0
0
14
0.00
0.20
0.0
4.2
—
9.35
—
0
14
28
259
1.11
0.13
4.1
3.4
123.74
41.12
ng/l
0.43
18
147
31
330
0.91
0.11
1.8
2.3
—
—
—
0
0
17
156
1.11
0.08
2.7
2.3
5.25
4.92
e6/l
0.05
17
146
7
66
1.06
0.08
1.0
2.0
1.76
1.84
%
—
7
57
7
66
1.06
0.08
4.9
2.8
0.29
0.22
g/l
—
7
61
11
98
1.14
0.08
1.5
2.0
—
—
—
0
0
18
194
0.91
0.08
1.2
1.3
2.57
2.12
g/l
0.78
11
118
7
84
0.82
0.07
1.1
1.1
—
—
—
0
0
21
221
0.94
0.05
2.9
2.3
—
—
—
0
0
14
131
1.08
0.04
1.4
1.3
—
—
—
0
0
21
216
0.97
0.00
1.6
1.7
—
—
—
0
0
7
74
0.94
0.00
2.0
2.1
401.86
409.55
nmol/l
—
7
67
5
53
0.94
0.00
1.0
1.1
242.00
154.15
u/ml
—
5
48
0
5
0.00
-0.00
0.0
1.2
—
34.00
—
0
5
0
9
0.00
-0.00
0.0
15.4
—
1373.78
—
0
9
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
1.2
—
—
—
0
0
0
7
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
1.0
—
—
—
0
0
0
7
0.00
-0.00
0.0
1.9
—
8.56
—
0
7
0
7
0.00
-0.00
0.0
3.4
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.2
—
—
—
0
0
0
7
0.00
-0.00
0.0
1.3
—
—
—
0
0
0
7
0.00
-0.00
0.0
2.6
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.0
—
147.80
—
0
5
0
7
0.00
-0.00
0.0
1.6
—
1929.29
—
0
7
0
6
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
7
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
13.2
—
777.67
—
0
9
0
7
0.00
-0.00
0.0
2.9
—
—
—
0
0
0
7
0.00
-0.00
0.0
2.9
—
—
—
0
0
0
9
0.00
-0.00
0.0
1.3
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.8
—
31.15
—
0
6
0
5
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
8
0.00
-0.00
0.0
1.3
—
—
—
0
0
0
7
0.00
-0.00
0.0
2.1
—
11.57
—
0
7
0
8
0.00
-0.00
0.0
1.1
—
139.75
—
0
8
0
7
0.00
-0.00
0.0
1.3
—
—
—
0
0

Mortality – FinRegistry

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

Relationships between endpoints

Index endpoint: Q17_MULTIPLE_CONGENITAL_EXOSTOSES_WIDE – Multiple congenital exostoses

GWS hits: -

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