No definition available.
Endpoint definition
↥Report an error or suggest an improvement for this endpoint codes
Endpoint definition steps |
FinnGen |
|---|---|
Phenotype data |
519972 |
1. Apply sex-specific ruleNone |
519972 |
2. Check conditionsNone |
519972 |
3. Check pre-conditions, main-only, mode, registry filtersRegistry filters: 2 out of 7 registries used, show all original rules. |
86 |
4. Check minimum number of eventsNone |
86 |
5. Include endpointsNone |
86 |
6. Filter based on genotype QC (FinnGen only) |
83 |
Control definitions (FinnGen only)
- Control exclude
- Q17_CONGEN_MALFO_DEFORMAT_MUSCULOS_SYSTEM
Extra metadata
- First used in FinnGen datafreeze
- DF12
Similar endpoints
↥List of similar endpoints to
Osteogenesis imperfecta
based on the number of shared cases.
Similar with more cases:
- Other osteochondrodysplasias
- Other osteochondrodysplasias
- Congenital malformations and deformations of the musculoskeletal system
- Congenital malformations and deformations of the musculoskeletal system
- Congenital malformations, deformations and chromosomal abnormalities
Similar with less cases:
None
Case counts by codes
↥
Summary Statistics
↥-FinRegistry-
This endpoint is excluded (different definition than used in FinnGen).
-FinnGen-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | 83 | 59 | 24 |
| Unadjusted period prevalence (%) | 0.02 | 0.02 | 0.01 |
| Median age at first event (years) | 33.36 | 32.19 | 36.24 |
-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
- 86
- Matched controls
- 860
Code
Vocabulary
Description
Odds Ratio
-log10(p)
N matched cases
N matched controls
Q78.00
ICD-10 Finland
Congenital osteogenesis imperfecta
+∞
123.8
86
*
NK6QA
NOMESCO Finland
Measurement of bone density from two or more locations with X-ray
42.0
65.5
47
24
NA3AA
NOMESCO Finland
Lumbar spine X-ray examination without contrast
20.2
40.8
39
34
Z31.5
ICD-10 Finland
Genetic counselling
16.4
31.5
32
30
NA2AA
NOMESCO Finland
Thoracal spine X-ray examination without contrast
118.9
30.1
31
*
X58
ICD-10 Finland
Exposure to other specified factors
9.9
23.9
37
61
W01
ICD-10 Finland
Fall on same level from slipping, tripping and stumbling
9.2
23.7
58
158
X59
ICD-10 Finland
Exposure to unspecified factor
8.4
22.3
48
113
Q78.08
ICD-10 Finland
Osteogenesis imperfecta tarda
+∞
20.6
19
*
75650
ICD-8 Finland
Other congenital anomalies of musculoskeletal system, Chondrodystrophy
+∞
20.6
19
*
NG4AA
NOMESCO Finland
Lower leg X-ray examination
26.0
18.8
26
14
Z01.1
ICD-10 Finland
Examination of ears and hearing
7.2
17.6
36
78
7564A
ICD-9 Finland
Other congenital musculoskeletal anomalies, Chondrodystrophy
+∞
17.3
16
*
S72.3
ICD-10 Finland
Fracture of shaft of femur
208.9
17.2
17
*
M05BA04
ATC
alendronic acid; oral
21.9
15.9
23
14
ZX120
NOMESCO Finland
Intravenous
8.6
15.9
24
37
NH1AA
NOMESCO Finland
Ankle X-ray examination without contrast
8.9
15.7
23
34
TNX34
NOMESCO Finland
Major custom molded cast, unspecified region
44.8
15.1
18
5
W19
ICD-10 Finland
Unspecified fall
7.7
14.4
24
41
NF3AA
NOMESCO Finland
Femur X-ray examination
26.6
14.1
19
9
NFJ60
NOMESCO Finland
Internal fixation of fracture of other parts of femur with intramedullary nail
89.4
14.1
15
*
5BA08, ,
NOMESCO Finland
+∞
13.9
13
*
S82.2
ICD-10 Finland
Fracture of shaft of tibia
23.9
13.6
19
10
H90.6
ICD-10 Finland
Mixed conductive and sensorineural hearing loss, bilateral
34.7
13.6
17
6
TNX33
NOMESCO Finland
Custom moulded cast, unspecified region
13.8
13.3
23
22
R4110
NOMESCO Finland
Physiotherapy
5.2
13.2
47
162
A12AX
ATC
Calcium, combinations with vitamin D and/or other drugs
5.2
13.2
46
156
H05BA01
ATC
calcitonin (salmon synthetic); nasal, parenteral
151.1
12.8
13
*
TPH04
NOMESCO Finland
Cathetrisation of vein
5.3
12.3
34
94
DFF00
NOMESCO Finland
Pure tone audiometry
6.9
12.1
22
41
NH3AA
NOMESCO Finland
Foot and toes X-ray examination
6.6
12.0
23
45
Z3226
NOMESCO Finland
Physiotherapist
4.9
11.9
39
124
H90.3
ICD-10 Finland
Sensorineural hearing loss, bilateral
6.3
11.8
24
50
H90.0
ICD-10 Finland
Conductive hearing loss, bilateral
+∞
11.7
11
*
NE1AA
NOMESCO Finland
Pelvis X-ray examination
11.7
11.3
21
23
NG1AA
NOMESCO Finland
Knee X-ray examination without contrast
6.0
11.3
24
52
ZXA05
NOMESCO Finland
Left side
5.1
11.2
32
90
L28
ICPC
Limited function/disability (L)
6.0
11.0
23
49
ND2AA
NOMESCO Finland
Hand and fingers X-ray examination
5.9
10.7
23
50
NF1AA
NOMESCO Finland
Hip X-ray examination
11.5
10.7
20
22
Z3229
NOMESCO Finland
Other healthcare associate professional
6.6
10.7
20
38
NFU20
NOMESCO Finland
Removal of internal fixation device from femur
124.6
10.7
11
*
M05BA07
ATC
risedronic acid; oral
124.6
10.7
11
*
TNX50
NOMESCO Finland
Removal of cutom molded cast and internal stretch
10.3
10.6
21
26
R5110
NOMESCO Finland
Evaluation of the need for aids, the testing, fitting and choice of the aid, instruction in use and delivery of it
5.7
10.0
22
49
W00
ICD-10 Finland
Fall on same level involving ice and snow
5.4
9.8
23
54
ZXD05
NOMESCO Finland
Urgent procedure
4.2
9.8
42
160
9128
FHL
Open reduction and osteosynthesis
111.8
9.6
10
*
WX1PA
NOMESCO Finland
Total body mineral density measurement with Dual energy X-ray absorptiometry (DXA)
111.8
9.6
10
*
E883A
ICD-9 Finland
Fall into hole or other opening in surface
13.7
9.0
15
13
9165
FHL
Removal of osteosynthesis material
31.1
8.7
11
*
K00.51
ICD-10 Finland
Dentinogenesis imperfecta
+∞
8.5
8
*
5BA03, ,
NOMESCO Finland
+∞
8.5
8
*
NE1AD
NOMESCO Finland
Pelvis and hip bones CT examination
37.2
8.3
10
*
Z2221
NOMESCO Finland
Medical doctor
3.7
8.2
41
170
N02AX02
ATC
tramadol; systemic, rectal
3.6
7.9
44
194
S72.0
ICD-10 Finland
Fracture of neck of femur
20.7
7.8
11
6
ZXA00
NOMESCO Finland
Right side
3.9
7.8
31
109
WX212
NOMESCO Finland
Femoral plexus blockade
27.9
7.8
10
*
Z3231
NOMESCO Finland
Registered nurse
3.6
7.6
40
169
ZXE20
NOMESCO Finland
More than three and less than five hours
4.5
7.6
22
61
GD1QA
NOMESCO Finland
Supine thorax X-ray examination
5.0
7.4
18
43
ZXE03
NOMESCO Finland
Procedure duration 20 to 29 minutes
8.3
7.4
16
23
3870A
ICD-9 Finland
Otosclerosis involving oval window, nonobliterative
+∞
7.4
7
*
RK120, ,
NOMESCO Finland
+∞
7.4
7
*
S82.3
ICD-10 Finland
Fracture of lower end of tibia
13.7
7.3
12
10
NCU20
NOMESCO Finland
Removal of internal fixation device from elbow or forearm
22.3
7.3
10
5
NGJ60
NOMESCO Finland
Internal fixation of fracture of knee or lower leg using intramedullary nail, other or unspecified
33.1
7.3
9
*
A28
ICPC
Limited function/disability NOS
4.9
7.2
18
44
EBA15
NOMESCO Finland
Extraction of multiple teeth
15.5
7.1
11
8
Z46.1
ICD-10 Finland
Fitting and adjustment of hearing aid
18.6
6.9
10
6
S22.4
ICD-10 Finland
Multiple fractures of ribs
43.6
6.9
8
*
N03AX16
ATC
[U] pregabalin
3.9
6.9
25
82
S42.1
ICD-10 Finland
Fracture of scapula
24.8
6.8
9
*
TNG34
NOMESCO Finland
Major custom moulded orthopaedic cast, knee or lower leg
24.8
6.8
9
*
ZXE10
NOMESCO Finland
More than one and less than three hours
3.2
6.5
43
205
NC1AA
NOMESCO Finland
Elbow X-ray examination without contrast
10.5
6.5
12
13
S72.4
ICD-10 Finland
Fracture of lower end of femur
75.2
6.5
7
*
L13
ICPC
Hip symptom/complaint
4.1
6.5
21
63
NB1AA
NOMESCO Finland
Shoulder X-ray examination without contrast
6.2
6.4
17
33
XG466
NOMESCO Finland
Sleep oxymetry
19.8
6.4
9
5
R5110, ,
SPAT
8.8
6.4
13
17
H80.0
ICD-10 Finland
Otosclerosis involving oval window, nonobliterative
29.0
6.3
8
*
38699, ,
ICD-8 Finland
+∞
6.3
6
*
NGJ62
NOMESCO Finland
Internal fixation of fracture of knee or lower leg using plate and screws, other or unspecified
+∞
6.3
6
*
NGK30
NOMESCO Finland
Angulation, rotation or displacement osteotomy of knee or lower leg
+∞
6.3
6
*
Q78.9
ICD-10 Finland
Osteochondrodysplasia, unspecified
+∞
6.3
6
*
NFK30
NOMESCO Finland
Angulation, rotation or displacement osteotomy of femur
+∞
6.3
6
*
ZXD35
NOMESCO Finland
Usual procedure
13.9
6.3
10
8
NK6MA
NOMESCO Finland
Measurement of bone age from hand and elbow using X-ray
8.3
6.2
13
18
W10
ICD-10 Finland
Fall on and from stairs and steps
7.4
6.2
14
22
M01AH02
ATC
rofecoxib; oral
4.6
6.0
16
41
SPAT1229
SPAT
Assessment of need for aid
7.8
6.0
13
19
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
29
0
+∞
32.34
2.1
0.0
—
—
—
0
0
44
83
9.81
25.53
8.9
10.6
1.10
1.23
mmol/l
2.07
44
78
72
287
10.27
18.88
8.7
2.7
81.41
74.11
nmol/l
2.24
72
266
73
318
9.57
16.67
12.9
9.1
1.23
1.22
mmol/l
0.79
67
281
21
66
3.89
6.08
6.5
9.8
23.27
23.80
mmol/l
0.41
21
66
9
9
10.99
5.16
1.0
1.1
—
—
—
0
0
35
167
2.85
5.07
2.5
2.5
—
—
—
0
0
17
59
3.34
4.18
7.4
11.7
105.18
104.71
mmol/l
0.16
17
59
61
427
2.47
3.58
8.7
11.5
3.87
3.82
e9/l
0.05
44
374
6
6
10.62
3.55
1.0
1.0
93.17
198.50
u/l
—
6
6
19
79
2.80
3.43
11.2
11.1
25.63
25.10
mmol/l
0.32
19
79
10
26
4.21
3.09
4.7
11.6
0.26
0.70
%
—
10
26
10
28
3.90
2.89
4.7
10.9
1.33
1.40
%
—
10
28
8
19
4.53
2.75
1.4
1.1
—
—
—
0
0
8
19
4.53
2.75
1.4
1.1
—
—
—
0
0
10
32
3.40
2.53
5.0
9.9
129.50
130.50
g/l
—
10
32
47
326
1.97
2.45
2.9
2.7
—
—
—
0
0
8
22
3.90
2.43
7.6
10.8
24.50
25.34
mmol/l
—
8
22
5
8
6.55
2.40
1.8
1.4
—
—
—
0
0
20
102
2.25
2.34
3.5
3.3
3.75
2.56
e6/l
—
10
57
9
29
3.34
2.30
3.0
2.0
—
—
—
0
0
5
11
4.75
1.97
1.8
1.3
0.21
0.88
nmol/l
—
5
6
77
670
2.42
1.93
23.8
14.7
14.73
14.24
%
0.37
77
664
8
33
2.57
1.58
2.0
7.2
184.88
167.45
%
—
8
33
33
234
1.67
1.41
3.8
3.7
—
—
—
0
0
18
107
1.86
1.39
3.7
3.3
0.94
0.73
e6/l
—
8
63
13
69
2.04
1.37
2.8
1.8
—
—
—
0
0
0
40
0.00
1.37
0.0
1.4
—
—
—
0
0
55
642
0.60
1.36
4.3
4.0
4.92
4.66
mmol/l
0.85
50
597
56
647
0.61
1.26
4.8
4.3
3.07
2.77
mmol/l
0.98
49
599
16
96
1.82
1.20
2.6
1.9
—
—
—
0
0
55
635
0.63
1.18
4.2
3.9
1.46
1.50
mmol/l
0.26
49
585
29
208
1.59
1.16
2.1
1.7
114.03
106.59
pmol/l
0.25
12
107
12
67
1.92
1.11
3.0
1.7
—
—
—
0
0
26
187
1.56
1.01
4.4
3.5
0.27
0.14
e6/l
0.63
17
140
64
558
1.57
1.01
4.8
4.0
14.46
14.45
pmol/l
0.02
57
514
67
592
1.60
0.98
16.3
10.0
100.62
90.43
ml/min/173m2
2.65
57
460
41
335
1.43
0.84
5.4
5.0
0.00
0.00
estimate
—
5
55
23
168
1.50
0.83
3.3
3.0
2.73
2.96
mg/l
0.20
18
150
54
609
0.70
0.81
3.5
3.6
1.19
1.25
mmol/l
0.33
47
556
0
26
0.00
0.80
0.0
1.1
—
—
—
0
0
30
236
1.42
0.74
17.5
10.2
1.10
1.12
inr
—
8
58
41
341
1.39
0.74
3.5
3.6
0.00
0.00
estimate
—
5
49
7
42
1.72
0.70
1.4
1.5
—
—
—
0
0
7
42
1.72
0.70
1.4
1.5
—
—
—
0
0
7
42
1.72
0.70
1.4
1.5
—
—
—
0
0
0
21
0.00
0.61
0.0
1.9
—
—
—
0
0
54
594
0.76
0.55
3.9
3.7
—
—
—
0
0
72
673
1.43
0.53
5.3
4.5
1.70
1.87
mu/l
0.75
64
616
6
40
1.54
0.52
1.8
6.5
85.00
99.92
%
—
6
40
7
45
1.60
0.50
1.4
1.6
—
—
—
0
0
21
258
0.75
0.47
3.9
3.4
—
—
—
0
0
0
15
0.00
0.41
0.0
1.2
—
47.13
—
0
8
0
15
0.00
0.41
0.0
1.2
—
122.00
—
0
15
0
16
0.00
0.41
0.0
2.1
—
—
—
0
0
0
17
0.00
0.41
0.0
1.6
—
—
—
0
0
0
17
0.00
0.41
0.0
1.0
—
—
—
0
0
11
80
1.43
0.41
1.1
1.6
1177.50
1151.97
nmol/l
—
6
66
0
18
0.00
0.40
0.0
1.3
—
—
—
0
0
0
18
0.00
0.40
0.0
1.3
—
58.52
—
0
18
19
153
1.31
0.40
2.1
2.4
190.47
172.40
u/l
0.12
19
146
9
67
1.38
0.39
1.9
2.7
39.44
24.87
u/l
—
9
52
0
19
0.00
0.39
0.0
1.1
—
3.56
—
0
9
0
19
0.00
0.39
0.0
1.8
—
—
—
0
0
74
712
1.28
0.27
16.5
12.3
25.18
21.94
mg/l
0.37
62
531
0
11
0.00
0.21
0.0
1.5
—
—
—
0
0
0
11
0.00
0.21
0.0
1.5
—
—
—
0
0
0
10
0.00
0.21
0.0
2.4
—
3.69
—
0
10
0
10
0.00
0.21
0.0
1.7
—
—
—
0
0
0
10
0.00
0.21
0.0
1.3
—
—
—
0
0
0
10
0.00
0.21
0.0
1.3
—
—
—
0
0
0
10
0.00
0.21
0.0
1.3
—
—
—
0
0
0
10
0.00
0.21
0.0
1.3
—
—
—
0
0
0
10
0.00
0.21
0.0
1.9
—
—
—
0
0
0
10
0.00
0.21
0.0
1.6
—
—
—
0
0
0
10
0.00
0.21
0.0
1.1
—
—
—
0
0
0
10
0.00
0.21
0.0
1.3
—
—
—
0
0
0
12
0.00
0.21
0.0
1.8
—
—
—
0
0
0
12
0.00
0.21
0.0
1.0
—
91.58
—
0
12
0
13
0.00
0.21
0.0
2.2
—
—
—
0
0
0
13
0.00
0.21
0.0
2.2
—
—
—
0
0
0
13
0.00
0.21
0.0
1.6
—
—
—
0
0
60
572
1.16
0.21
4.9
4.9
37.62
38.66
mmol/mol
0.45
55
529
6
49
1.24
0.20
1.8
3.6
—
—
—
0
0
0
14
0.00
0.20
0.0
1.1
—
—
—
0
0
0
14
0.00
0.20
0.0
1.9
—
—
—
0
0
0
14
0.00
0.20
0.0
1.1
—
1.71
—
0
7
5
66
0.74
0.17
1.0
2.0
—
—
—
0
0
12
136
0.86
0.12
2.1
3.9
263.42
327.42
umol/l
1.95
12
125
5
44
1.14
0.10
1.0
1.7
—
—
—
0
0
12
133
0.89
0.08
1.4
1.4
—
—
—
0
0
7
81
0.85
0.07
1.1
2.2
—
—
—
0
0
16
173
0.91
0.07
3.9
3.6
0.00
0.00
estimate
—
5
55
14
131
1.08
0.04
2.1
2.4
—
—
—
0
0
21
202
1.05
0.02
1.9
3.1
132.33
20.59
ng/l
0.44
13
122
13
124
1.06
0.01
1.3
1.2
1.08
7.33
u/ml
—
5
52
22
218
1.01
0.00
1.8
2.0
—
—
—
0
0
62
618
1.01
0.00
4.5
3.8
5.68
5.76
mmol/l
0.22
55
561
0
6
0.00
0.00
0.0
1.0
—
—
—
0
0
0
6
0.00
0.00
0.0
1.5
—
1442.00
—
0
6
0
8
0.00
0.00
0.0
1.0
—
—
—
0
0
0
8
0.00
0.00
0.0
2.3
—
—
—
0
0
0
8
0.00
0.00
0.0
2.6
—
2.58
—
0
8
0
8
0.00
0.00
0.0
1.0
—
0.36
—
0
8
0
6
0.00
0.00
0.0
1.3
—
—
—
0
0
0
8
0.00
0.00
0.0
2.0
—
—
—
0
0
6
66
0.90
0.00
5.0
6.2
—
—
—
0
0
0
8
0.00
0.00
0.0
2.7
—
—
—
0
0
0
6
0.00
0.00
0.0
1.3
—
—
—
0
0
0
8
0.00
0.00
0.0
2.1
—
—
—
0
0
0
8
0.00
0.00
0.0
2.1
—
—
—
0
0
0
6
0.00
0.00
0.0
1.2
—
—
—
0
0
0
6
0.00
0.00
0.0
1.0
—
—
—
0
0
0
6
0.00
0.00
0.0
2.8
—
—
—
0
0
0
6
0.00
0.00
0.0
1.3
—
—
—
0
0
0
8
0.00
0.00
0.0
2.3
—
—
—
0
0
0
8
0.00
0.00
0.0
1.6
—
—
—
0
0
0
8
0.00
0.00
0.0
2.1
—
—
—
0
0
0
9
0.00
-0.00
0.0
4.6
—
118.97
—
0
9
0
5
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
7
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
5
0.00
-0.00
0.0
2.0
—
—
—
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
7
0.00
-0.00
0.0
1.4
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.8
—
—
—
0
0
0
7
0.00
-0.00
0.0
1.6
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.6
—
—
—
0
0
0
9
0.00
-0.00
0.0
1.6
—
—
—
0
0
0
5
0.00
-0.00
0.0
2.0
—
—
—
0
0
0
7
0.00
-0.00
0.0
2.0
—
7.67
—
0
7
0
5
0.00
-0.00
0.0
5.6
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.8
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.6
—
—
—
0
0
7
78
0.89
-0.00
1.6
1.7
—
—
—
0
0
0
5
0.00
-0.00
0.0
2.0
—
—
—
0
0
0
5
0.00
-0.00
0.0
2.0
—
—
—
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
1.6
—
5.44
—
0
5
0
5
0.00
-0.00
0.0
1.2
—
13.20
—
0
5
12
120
1.00
-0.00
2.1
2.2
—
—
—
0
0
0
7
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
5
0.00
-0.00
0.0
2.0
—
—
—
0
0
0
7
0.00
-0.00
0.0
1.0
—
—
—
0
0
Mortality – FinRegistry
↥This endpoint is excluded (different definition than used in FinnGen).
Relationships between endpoints
↥Index endpoint: Q17_OSTEOGEN_IMPERFECTA – Osteogenesis imperfecta
GWS hits: -
This endpoint is excluded (different definition than used in FinnGen).