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. |
119 |
4. Check minimum number of eventsNone |
119 |
5. Include endpointsNone |
119 |
6. Filter based on genotype QC (FinnGen only) |
115 |
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 event in hilmo or specialist outpatient
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 | 115 | 72 | 43 |
| Unadjusted period prevalence (%) | 0.02 | 0.03 | 0.02 |
| Median age at first event (years) | 50.89 | 48.98 | 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
- 119
- Matched controls
- 1190
Code
Vocabulary
Description
Odds Ratio
-log10(p)
N matched cases
N matched controls
G71.11
ICD-10 Finland
Dystrophia myotonica [Steinert]
+∞
171.8
119
*
Z31.5
ICD-10 Finland
Genetic counselling
25.8
67.0
57
41
G71.18
ICD-10 Finland
Other myotonic disease
+∞
36.3
33
*
XF404
NOMESCO Finland
Ambulatory ECG
9.0
21.5
31
45
H26.4
ICD-10 Finland
After-cataract
10.3
21.4
27
33
G71.08
ICD-10 Finland
Other muscular dystrophy
+∞
19.3
18
*
G71.1
ICD-10 Finland
Myotonic disorders
+∞
19.3
18
*
G72.9
ICD-10 Finland
Myopathy, unspecified
38.0
17.8
22
7
R1250
NOMESCO Finland
Evaluation of functional capability
26.9
17.7
24
11
FM1AE
NOMESCO Finland
Standard cardiac ultrasound examination
5.6
17.1
43
109
L28
ICPC
Limited function/disability (L)
5.5
15.7
39
97
CJE20
NOMESCO Finland
Phakoemulsification with implantation of artificial lens in posterior chamber
4.7
14.9
51
165
G71.9
ICD-10 Finland
Primary disorder of muscle, unspecified
170.0
14.8
15
*
N99
ICPC
Neurological disease other
49.1
14.5
17
*
H26.02
ICD-10 Finland
Presenil cataract
19.3
14.1
21
13
FM1EE
NOMESCO Finland
Extensive structural and functional ultrasound examination of heart
4.3
13.0
49
168
J96.1
ICD-10 Finland
Chronic respiratory failure
28.3
11.5
15
6
N29
ICPC
Neurological sympt/complt other
26.4
9.1
12
5
R4110
NOMESCO Finland
Physiotherapy
3.3
8.9
48
202
N28
ICPC
Limited function/disability (N)
54.1
8.8
10
*
Z3226
NOMESCO Finland
Physiotherapist
3.6
8.7
35
122
G71.00
ICD-10 Finland
Muscular dystrophy benign [Becker]
+∞
8.4
8
*
Z96.1
ICD-10 Finland
Presence of intraocular lens
4.4
8.4
24
65
XA800
NOMESCO Finland
Neuropsychological investigation
8.3
8.3
18
25
SPAT1215
SPAT
Assessment of need for medical rehabilitation
9.1
7.9
16
20
Z03.5
ICD-10 Finland
Observation for other suspected cardiovascular diseases
4.8
7.8
19
45
XFP20
NOMESCO Finland
Check up of cardiac pacemaker
7.7
7.6
17
25
XCW99
NOMESCO Finland
Other investigative procedure of eye
4.7
7.6
19
46
G71.8
ICD-10 Finland
Other primary disorders of muscles
+∞
7.4
7
*
L99
ICPC
Musculoskeletal disease other
12.0
7.0
12
11
CJB10
NOMESCO Finland
Laser discission of secondary cataract
6.7
6.9
17
29
K80.2
ICD-10 Finland
Calculus of gallbladder without cholecystitis
3.6
6.8
25
81
R4130
NOMESCO Finland
Speech therapy
10.1
6.5
12
13
R2130
NOMESCO Finland
Counselling and guidance which enhance independent living
4.1
6.3
19
53
G71.12
ICD-10 Finland
Myotonia congenita
+∞
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
*
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
59
226
4.19
13.50
2.6
3.2
578.61
881.90
ng/l
0.51
51
190
22
47
5.52
10.24
1.6
2.1
135.71
105.80
ng/l
0.17
17
41
36
149
3.03
6.60
3.3
3.3
282.81
210.54
ng/l
0.14
28
101
69
404
2.68
6.48
5.2
6.5
1.22
1.21
mmol/l
0.47
55
346
79
535
2.42
4.91
3.9
4.3
6.24
6.57
mmol/l
1.14
74
494
15
44
3.76
4.64
3.2
2.8
0.96
1.18
mmol/l
—
10
33
29
132
2.58
4.31
2.1
2.5
4.96
2.67
e6/l
0.46
14
74
43
236
2.29
4.24
2.9
2.7
0.57
0.32
e6/l
0.48
29
179
15
47
3.51
4.22
3.7
2.8
5.65
4.92
kpa
2.16
15
47
13
33
4.29
3.94
2.2
8.5
25.28
24.74
mmol/l
0.27
13
33
106
868
3.02
3.73
17.3
14.9
15.48
14.55
%
0.67
106
859
29
142
2.38
3.66
2.0
2.3
1.14
0.87
e6/l
0.33
14
83
22
96
2.58
3.52
2.9
6.7
104.95
103.91
mmol/l
0.58
22
96
28
142
2.27
3.24
1.4
1.7
—
—
—
0
0
107
899
2.89
3.22
6.1
4.6
1.67
1.88
mu/l
1.38
102
832
75
553
1.96
3.09
4.5
10.7
3.62
3.93
e9/l
0.61
66
491
21
98
2.39
2.92
1.4
1.7
—
—
—
0
0
20
92
2.41
2.87
1.4
1.6
—
—
—
0
0
52
346
1.89
2.86
1.7
1.8
95.51
97.22
pmol/l
0.10
30
174
47
303
1.91
2.85
2.7
2.8
—
—
—
0
0
34
199
1.99
2.71
1.5
1.9
1.04
1.08
mg/l
0.05
27
161
26
138
2.13
2.68
2.6
3.4
0.82
0.81
mmol/l
0.22
26
128
7
15
4.89
2.64
2.3
3.5
51.14
57.40
%
—
7
15
110
984
2.56
2.38
14.2
12.2
19.36
20.96
mg/l
0.24
97
735
7
18
4.06
2.29
4.0
2.4
24.76
24.72
mmol/l
—
7
18
111
1002
2.60
2.18
18.1
12.8
140.48
139.71
mmol/l
1.90
111
970
111
1002
2.60
2.18
18.3
12.9
3.97
3.95
mmol/l
0.30
111
969
11
43
2.71
2.14
2.4
1.3
—
—
—
0
0
9
31
3.06
2.12
1.2
1.4
—
—
—
0
0
54
391
1.70
2.09
8.7
10.6
1.02
1.16
inr
2.24
21
121
107
948
2.28
2.00
15.0
11.0
99.81
85.93
ml/min/173m2
7.56
93
771
10
39
2.70
1.99
1.9
2.1
—
—
—
0
0
14
66
2.27
1.91
1.3
1.8
—
—
—
0
0
8
29
2.88
1.83
1.1
3.0
—
—
—
0
0
32
209
1.73
1.76
2.1
1.9
2.69
3.17
mg/l
0.69
27
181
10
41
2.57
1.69
1.2
1.6
—
—
—
0
0
34
239
1.59
1.40
1.6
1.3
6.07
1.03
u/ml
—
9
63
5
19
2.70
1.23
1.8
1.5
—
—
—
0
0
6
26
2.37
1.20
1.7
1.1
—
—
—
0
0
14
80
1.85
1.19
4.4
3.5
—
—
—
0
0
34
254
1.47
1.05
1.9
1.7
1.70
1.38
mmol/l
1.11
28
211
10
53
1.97
1.05
1.3
1.7
—
—
—
0
0
10
56
1.86
0.91
1.5
1.4
—
—
—
0
0
6
30
2.05
0.88
1.5
2.0
—
—
—
0
0
5
23
2.22
0.77
1.0
1.5
—
—
—
0
0
5
24
2.13
0.75
1.0
1.5
—
—
—
0
0
5
24
2.13
0.75
4.0
2.2
128.80
131.18
g/l
—
5
17
79
709
1.34
0.75
4.3
2.9
106.01
44.00
u/l
3.22
74
674
7
39
1.84
0.74
3.6
3.7
24.87
56.84
%
—
7
39
14
199
0.66
0.69
3.2
3.9
26.99
22.30
%
—
8
90
29
231
1.34
0.62
3.3
3.6
1.61
11.44
mg/mmol
2.04
19
136
20
150
1.40
0.61
1.9
1.7
1.39
1.46
%
0.21
15
137
0
23
0.00
0.59
0.0
3.0
—
3.63
—
0
23
8
123
0.63
0.58
1.4
1.7
—
—
—
0
0
9
63
1.46
0.54
1.2
2.3
4.79
5.31
ug/l
—
9
56
53
469
1.23
0.49
4.0
4.6
0.00
0.00
estimate
-0.00
13
93
12
85
1.46
0.49
1.6
1.3
133.04
141.32
iu/ml
—
5
34
53
473
1.22
0.45
2.9
3.3
0.00
0.00
estimate
-0.00
11
89
50
446
1.21
0.42
1.8
2.4
—
—
—
0
0
0
18
0.00
0.40
0.0
1.3
—
—
—
0
0
52
469
1.19
0.38
2.9
3.3
0.00
0.01
estimate
0.49
13
94
42
374
1.19
0.35
2.9
3.3
—
—
—
0
0
24
206
1.21
0.29
1.4
2.0
—
—
—
0
0
75
712
1.14
0.25
3.2
3.3
—
—
—
0
0
5
37
1.37
0.24
1.6
1.7
—
—
—
0
0
0
11
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
1.2
—
219.29
—
0
10
0
10
0.00
0.21
0.0
1.0
—
—
—
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
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
1.4
—
—
—
0
0
0
14
0.00
0.20
0.0
1.2
—
—
—
0
0
0
14
0.00
0.20
0.0
1.1
—
—
—
0
0
99
965
1.15
0.18
4.1
3.7
1.47
1.28
mmol/l
1.81
94
887
16
178
0.88
0.12
1.3
1.2
1.15
7.80
u/ml
—
6
74
15
134
1.14
0.11
2.5
2.0
—
—
—
0
0
13
117
1.12
0.08
2.5
1.8
—
—
—
0
0
5
62
0.80
0.08
1.0
1.0
—
—
—
0
0
114
1126
1.30
0.08
22.4
18.0
136.74
136.76
g/l
0.01
114
1110
10
111
0.89
0.06
6.1
4.5
35.30
32.16
%
—
10
67
21
222
0.93
0.05
1.7
1.6
—
—
—
0
0
19
199
0.95
0.03
1.3
1.4
—
—
—
0
0
24
247
0.96
0.01
3.2
3.4
0.00
0.01
estimate
0.49
13
91
0
5
0.00
0.00
0.0
2.6
—
53.20
—
0
5
0
5
0.00
0.00
0.0
2.0
—
—
—
0
0
0
5
0.00
0.00
0.0
1.2
—
242.40
—
0
5
0
6
0.00
0.00
0.0
1.5
—
—
—
0
0
0
5
0.00
0.00
0.0
1.0
—
—
—
0
0
0
5
0.00
0.00
0.0
7.0
—
—
—
0
0
5
59
0.84
0.00
1.0
1.3
—
—
—
0
0
0
5
0.00
0.00
0.0
1.2
—
0.33
—
0
5
0
5
0.00
0.00
0.0
1.2
—
—
—
0
0
0
6
0.00
0.00
0.0
1.0
—
—
—
0
0
0
7
0.00
-0.00
0.0
1.1
—
—
—
0
0
0
8
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
7
0.00
-0.00
0.0
1.3
—
—
—
0
0
0
8
0.00
-0.00
0.0
1.0
—
—
—
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
8
0.00
-0.00
0.0
1.9
—
—
—
0
0
0
8
0.00
-0.00
0.0
1.4
—
56.75
—
0
8
0
7
0.00
-0.00
0.0
1.9
—
55.57
—
0
7
0
7
0.00
-0.00
0.0
1.3
—
—
—
0
0
0
9
0.00
-0.00
0.0
1.8
—
17.30
—
0
9
18
180
1.00
-0.00
1.2
1.3
17.21
31.62
iu/ml
—
8
63
0
7
0.00
-0.00
0.0
1.6
—
—
—
0
0
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: 17
This endpoint is excluded (different definition than used in FinnGen).