No definition available.
Endpoint definition
↥Report an error or suggest an improvement for this endpoint codes
Endpoint definition steps |
FinnGen |
|---|---|
Phenotype data |
557745 |
1. Apply sex-specific ruleNone |
557745 |
2. Check conditionsNone |
557745 |
3. Check pre-conditions, main-only, mode, registry filtersRegistry filters: 2 out of 7 registries used, show all original rules. |
128 |
4. Check minimum number of eventsNone |
128 |
5. Include endpointsNone |
128 |
6. Filter based on genotype QC (FinnGen only) |
116 |
Control definitions (FinnGen only)
Controls for this endpoint are individuals that are not cases.
Similar endpoints
↥List of similar endpoints to
Myotonic dystrophy (Steinert)
based on the number of shared cases.
Similar with more cases:
- Myotonic disorders
- Diseases of the myoneural junction and muscle
- Neurological diseases
- Neurological diseases, wide definition
- Any operation in hilmo
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 | 116 | 73 | 43 |
| Unadjusted period prevalence (%) | 0.02 | 0.03 | 0.02 |
| Median age at first event (years) | 50.56 | 48.48 | 54.10 |
-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
- 120
- Matched controls
- 1200
Code
Vocabulary
Description
Odds Ratio
-log10(p)
N matched cases
N matched controls
G71.11
ICD-10 Finland
Dystrophia myotonica [Steinert]
+∞
173.2
120
*
Z31.5
ICD-10 Finland
Genetic counselling
25.4
68.1
59
44
G71.18
ICD-10 Finland
Other myotonic disease
+∞
37.5
34
*
XF404
NOMESCO Finland
Ambulatory ECG
9.1
22.4
32
46
G71.08
ICD-10 Finland
Other muscular dystrophy
+∞
21.5
20
*
G71.1
ICD-10 Finland
Myotonic disorders
+∞
21.5
20
*
N99
ICPC
Neurological disease other
66.6
19.7
22
*
H26.4
ICD-10 Finland
After-cataract
8.4
18.3
27
40
R1250
NOMESCO Finland
Evaluation of functional capability
23.9
17.8
25
13
G72.9
ICD-10 Finland
Myopathy, unspecified
33.2
17.2
22
8
FM1AE
NOMESCO Finland
Standard cardiac ultrasound examination
5.4
16.9
45
120
L28
ICPC
Limited function/disability (L)
5.3
16.3
45
123
G71.9
ICD-10 Finland
Primary disorder of muscle, unspecified
169.8
14.8
15
*
H26.02
ICD-10 Finland
Presenil cataract
19.3
14.1
21
13
CJE20
NOMESCO Finland
Phakoemulsification with implantation of artificial lens in posterior chamber
4.3
13.6
51
175
FM1EE
NOMESCO Finland
Extensive structural and functional ultrasound examination of heart
4.2
12.7
50
176
J96.1
ICD-10 Finland
Chronic respiratory failure
30.4
12.4
16
6
N29
ICPC
Neurological sympt/complt other
31.3
11.0
14
5
R4110
NOMESCO Finland
Physiotherapy
3.4
9.4
50
209
Z03.5
ICD-10 Finland
Observation for other suspected cardiovascular diseases
5.2
9.3
21
47
N28
ICPC
Limited function/disability (N)
30.0
8.6
11
*
K80.2
ICD-10 Finland
Calculus of gallbladder without cholecystitis
4.0
8.6
28
84
G71.00
ICD-10 Finland
Muscular dystrophy benign [Becker]
+∞
8.4
8
*
G71.8
ICD-10 Finland
Other primary disorders of muscles
+∞
8.4
8
*
Z3226
NOMESCO Finland
Physiotherapist
3.5
8.2
35
126
SPAT1215
SPAT
Assessment of need for medical rehabilitation
8.6
7.7
16
21
R5110, ,
SPAT
4.7
7.6
19
46
XA800
NOMESCO Finland
Neuropsychological investigation
7.1
7.6
18
29
S01.0
ICD-10 Finland
Open wound of scalp
4.9
7.5
18
42
XFP20
NOMESCO Finland
Check up of cardiac pacemaker
7.4
7.4
17
26
XCW99
NOMESCO Finland
Other investigative procedure of eye
4.6
7.4
19
47
Z96.1
ICD-10 Finland
Presence of intraocular lens
3.9
7.1
24
73
L99
ICPC
Musculoskeletal disease other
10.3
7.0
13
14
R2130
NOMESCO Finland
Counselling and guidance which enhance independent living
4.1
6.6
20
56
Z03.80
ICD-10 Finland
Observation for other suspected diseases and conditions
9.0
6.5
13
16
CJB10
NOMESCO Finland
Laser discission of secondary cataract
6.0
6.4
17
32
R4130
NOMESCO Finland
Speech therapy
8.4
6.3
13
17
I48.3
ICD-10 Finland
Typical atrial flutter
+∞
6.3
6
*
H28.2*G71.11
ICD-10 Finland
Myotonic cataract
+∞
6.3
6
*
G71.0
ICD-10 Finland
Muscular dystrophy
+∞
6.3
6
*
3626
FHL
Extracapsular cataract surgery and implantation of an artificial lens
+∞
6.3
6
*
G71.12
ICD-10 Finland
Myotonia congenita
+∞
6.3
6
*
A28
ICPC
Limited function/disability NOS
3.4
6.2
25
86
SPAT1230
SPAT
Aid fitting and borrowing and monitoring of use
3.5
6.1
24
81
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
68
277
4.36
14.47
3.0
3.3
513.83
814.51
ng/l
0.61
59
238
22
50
5.16
9.54
1.6
2.4
135.71
107.36
ng/l
0.16
17
45
37
149
3.14
7.15
2.3
2.8
4.96
2.66
e6/l
0.47
14
76
52
264
2.71
6.49
3.0
3.0
0.54
0.33
e6/l
0.46
31
196
76
472
2.66
6.22
7.3
7.4
1.21
1.21
mmol/l
0.13
62
412
19
54
3.99
6.17
8.5
9.9
25.51
24.58
mmol/l
0.67
19
54
39
177
2.78
5.98
3.5
3.3
250.34
348.65
ng/l
0.16
32
121
37
164
2.82
5.92
2.3
2.6
1.07
0.82
e6/l
0.29
14
90
30
123
2.92
5.51
2.6
3.1
7.61
7.26
umol/l
0.04
25
112
31
132
2.82
5.30
6.8
7.7
105.26
104.05
mmol/l
0.77
31
132
35
165
2.58
4.88
1.6
1.8
—
—
—
0
0
18
58
3.47
4.87
3.6
2.8
5.64
5.00
kpa
2.43
18
58
15
44
3.75
4.64
1.4
1.6
—
—
—
0
0
27
116
2.71
4.49
1.6
1.8
—
—
—
0
0
27
119
2.64
4.27
1.6
1.7
—
—
—
0
0
82
599
2.17
3.76
5.4
11.8
3.64
3.95
e9/l
0.65
71
528
64
427
2.07
3.73
1.9
2.0
92.28
97.04
pmol/l
0.41
39
225
15
51
3.22
3.72
1.9
2.9
25.67
25.04
mmol/l
0.22
15
51
47
291
2.01
3.27
1.7
1.5
17.51
20.09
nmol/l
0.80
42
242
11
30
3.93
3.18
3.2
2.0
25.13
24.42
mmol/l
0.23
11
30
5
6
8.62
2.77
1.0
1.0
—
—
—
0
0
31
176
2.03
2.68
2.7
3.4
0.84
0.81
mmol/l
0.88
31
167
38
232
1.93
2.68
1.5
1.9
1.12
1.28
mg/l
0.16
31
191
16
73
2.38
2.33
1.4
2.1
—
—
—
0
0
5
9
5.74
2.23
1.2
1.4
82.20
101.78
pmol/l
—
5
9
18
89
2.20
2.19
4.1
3.5
—
—
—
0
0
11
43
2.71
2.14
2.4
1.3
—
—
—
0
0
113
1029
2.68
2.13
18.3
14.4
19.48
21.58
mg/l
0.35
105
806
14
63
2.38
2.10
1.6
1.5
—
—
—
0
0
102
887
2.00
1.98
24.0
18.3
13.91
13.45
%
2.37
102
882
5
11
4.69
1.96
1.4
1.3
303.20
295.82
mu/l
—
5
11
9
34
2.78
1.91
1.4
1.2
—
—
—
0
0
9
34
2.78
1.91
1.2
1.4
—
—
—
0
0
12
53
2.40
1.87
2.1
3.1
0.66
0.61
%
0.20
12
53
7
24
3.03
1.75
1.0
2.3
—
—
—
0
0
7
25
2.91
1.67
1.0
1.7
—
—
—
0
0
5
14
3.68
1.63
1.0
1.3
—
—
—
0
0
6
20
3.10
1.60
1.0
1.5
—
—
—
0
0
7
27
2.69
1.54
1.0
1.7
—
—
—
0
0
5
15
3.43
1.54
1.2
1.2
—
—
—
0
0
34
235
1.62
1.50
1.6
2.2
—
—
—
0
0
7
28
2.59
1.47
1.0
1.6
—
—
—
0
0
113
1053
2.25
1.44
24.1
15.7
140.57
139.72
mmol/l
2.31
113
1028
113
1052
2.27
1.44
24.3
15.8
3.97
3.95
mmol/l
0.51
113
1024
6
23
2.69
1.38
2.0
3.1
5.42
9.70
pmol/l
—
6
23
12
61
2.07
1.38
1.4
1.9
—
—
—
0
0
39
285
1.55
1.35
1.6
1.3
6.07
0.98
u/ml
—
9
74
69
569
1.50
1.35
3.0
3.5
0.00
0.00
estimate
-0.00
16
120
69
570
1.50
1.34
3.0
3.6
0.00
13.76
estimate
0.50
16
118
11
55
2.10
1.32
2.8
2.1
21.64
39.77
u/l
2.38
11
50
69
572
1.49
1.30
3.1
3.6
0.00
0.00
estimate
-0.00
13
113
110
1018
1.97
1.23
20.3
13.6
99.39
85.57
ml/min/173m2
8.41
100
939
14
80
1.85
1.19
1.9
2.5
41.40
71.86
ml/min/173m2
—
5
35
0
33
0.00
1.18
0.0
2.8
—
3.34
—
0
33
7
30
2.41
1.14
1.0
1.6
—
—
—
0
0
8
146
0.52
1.13
2.1
2.2
3.10
3.50
ratio
—
8
123
5
21
2.44
1.10
1.8
1.6
—
—
—
0
0
9
51
1.83
0.97
3.2
4.0
36.43
50.38
%
—
9
51
5
105
0.45
0.94
2.4
2.0
4.10
3.57
mmol/l
—
5
79
6
28
2.20
0.93
1.2
1.4
—
—
—
0
0
58
489
1.36
0.88
2.3
2.7
—
—
estimate
—
0
0
23
165
1.49
0.86
1.9
1.8
1.41
1.45
%
0.13
18
150
6
32
1.92
0.83
3.8
2.0
130.67
132.29
g/l
—
6
24
5
23
2.22
0.77
1.0
1.3
—
—
—
0
0
5
23
2.22
0.77
1.2
1.2
—
—
—
0
0
5
26
1.96
0.71
1.0
1.7
—
—
—
0
0
53
453
1.30
0.70
2.2
2.0
1.63
1.45
mmol/l
0.77
46
381
0
20
0.00
0.61
0.0
1.4
—
—
—
0
0
13
95
1.41
0.46
1.6
1.3
133.04
130.08
u/ml
—
5
38
49
433
1.22
0.45
3.1
3.4
0.00
0.00
estimate
-0.00
13
101
0
15
0.00
0.41
0.0
1.2
—
—
—
0
0
9
69
1.33
0.38
1.3
2.2
4.46
5.11
ug/l
—
9
61
17
210
0.78
0.37
3.2
4.3
27.43
22.99
%
—
8
104
113
1104
1.40
0.32
24.6
17.9
60.10
74.90
umol/l
9.79
113
1091
78
736
1.17
0.31
3.3
3.3
—
—
—
0
0
37
330
1.18
0.30
2.8
2.9
0.00
0.00
estimate
-0.00
14
99
16
134
1.22
0.24
2.4
1.8
—
—
—
0
0
5
38
1.33
0.23
1.8
1.7
—
—
—
0
0
7
92
0.75
0.23
2.0
1.4
—
—
—
0
0
0
11
0.00
0.21
0.0
1.2
—
—
—
0
0
0
10
0.00
0.21
0.0
1.0
—
—
—
0
0
0
10
0.00
0.21
0.0
1.3
—
—
—
0
0
0
10
0.00
0.21
0.0
1.2
—
219.29
—
0
10
0
12
0.00
0.21
0.0
1.4
—
—
—
0
0
0
12
0.00
0.21
0.0
1.4
—
—
—
0
0
0
12
0.00
0.21
0.0
1.2
—
—
—
0
0
0
12
0.00
0.21
0.0
1.4
—
—
—
0
0
0
12
0.00
0.21
0.0
1.4
—
—
—
0
0
0
12
0.00
0.21
0.0
1.4
—
—
—
0
0
0
12
0.00
0.21
0.0
1.4
—
—
—
0
0
0
13
0.00
0.21
0.0
1.0
—
—
—
0
0
0
14
0.00
0.20
0.0
1.2
—
—
—
0
0
22
246
0.87
0.18
1.7
1.6
—
—
—
0
0
17
152
1.14
0.13
2.5
2.0
—
—
—
0
0
15
168
0.88
0.12
2.5
2.9
0.68
0.84
ug/l
—
9
105
33
310
1.09
0.11
3.2
3.5
0.00
0.01
estimate
0.50
16
118
32
301
1.09
0.10
4.2
3.9
2.65
6.93
mg/mmol
1.22
20
178
5
62
0.80
0.08
1.0
1.4
—
—
—
0
0
11
123
0.88
0.08
5.9
4.8
36.18
32.07
%
0.43
11
76
6
70
0.85
0.08
1.0
1.1
—
—
—
0
0
24
252
0.94
0.05
3.1
3.6
1.01
1.02
kg/l
0.58
15
166
20
210
0.94
0.04
1.3
1.5
—
—
—
0
0
23
223
1.04
0.01
1.2
1.3
16.97
29.21
iu/ml
—
10
71
21
206
1.02
0.00
1.3
1.3
3.43
7.66
u/ml
—
9
82
115
1148
1.04
-0.00
30.0
22.5
40.72
40.87
%
0.12
115
1138
0
8
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.5
—
—
—
0
0
0
5
0.00
-0.00
0.0
2.0
—
—
—
0
0
0
6
0.00
-0.00
0.0
2.5
—
106.67
—
0
6
0
8
0.00
-0.00
0.0
1.5
—
—
—
0
0
(40770918) von Willebrand factor (vWf).activity actual/normal in Platelet poor plasma by Immunoassay
0
5
0.00
-0.00
0.0
3.2
—
91.20
—
0
5
0
8
0.00
-0.00
0.0
1.9
—
1.25
—
0
8
0
5
0.00
-0.00
0.0
1.2
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.0
—
44.16
—
0
5
0
5
0.00
-0.00
0.0
1.4
—
—
—
0
0
0
7
0.00
-0.00
0.0
1.1
—
318.29
—
0
7
0
5
0.00
-0.00
0.0
1.2
—
0.33
—
0
5
0
8
0.00
-0.00
0.0
3.3
—
245.13
—
0
8
8
84
0.95
-0.00
1.6
2.2
0.03
0.22
e6/l
—
8
77
0
5
0.00
-0.00
0.0
1.0
—
9.00
—
0
5
0
5
0.00
-0.00
0.0
1.6
—
—
—
0
0
(3016894) Varicella zoster virus DNA [Presence] in Cerebral spinal fluid by NAA with probe detection
0
7
0.00
-0.00
0.0
1.4
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.4
—
—
—
0
0
0
6
0.00
-0.00
0.0
8.0
—
381.67
—
0
6
115
1149
1.02
-0.00
29.1
22.2
134.67
136.53
g/l
0.58
115
1139
0
8
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.0
—
—
—
0
0
115
1148
1.04
-0.00
28.7
22.0
92.05
90.78
fl
2.97
115
1139
0
7
0.00
-0.00
0.0
2.0
—
55.57
—
0
7
Mortality – FinRegistry
↥This endpoint is excluded (different definition than used in FinnGen).
Relationships between endpoints
↥Index endpoint: G6_MYOTONIC_DYSTROPHY – Myotonic dystrophy (Steinert)
GWS hits: 18
This endpoint is excluded (different definition than used in FinnGen).