Disorders of muscle tone of newborn

P16_DISORD_MUSCLE_TONE_NEWBO

Endpoint definition

Endpoint definition steps

FinnGen

Phenotype data

520210

1. Apply sex-specific rule

None

520210

2. Check conditions

None

520210

3. Check pre-conditions, main-only, mode, registry filters

Registry filters:

  • Hospital discharge: ICD-10 P94
  • Cause of death: ICD-10 P94

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

62

4. Check minimum number of events

None

62

5. Include endpoints

None

62

6. Filter based on genotype QC (FinnGen only)

62

Control definitions (FinnGen only)

Control exclude
P16_OTH_DISORD_ORIGINA_PERINA_PERIOD

Extra metadata

Level in the ICD hierarchy
3
First used in FinnGen datafreeze
DF4
Parent code in ICD-10
P9
Name in latin
Dystonia muscularis neonati

Case counts by codes

FinnGen case counts by registry codes:

generic upset plot

Upset plot

Full data table

Summary Statistics

-FinRegistry-

Key figures

All Female Male
Number of individuals
Whole population 2823 1183 1638
Only index persons 1569 650 919
Unadjusted period prevalence (%)
Whole population 0.04 0.03 0.05
Only index persons 0.03 0.02 0.04
Median age at first event (years)
Whole population 0.24 0.19 0.19
Only index persons 0.33 0.36 0.31

-FinnGen-

Key figures

All Female Male
Number of individuals 62 29 33
Unadjusted period prevalence (%) 0.01 0.01 0.01
Median age at first event (years) 0.43 0.51 0.36

-FinRegistry-

Age distribution of first events

-FinnGen-

Age distribution of first events

-FinRegistry-

Year distribution of first events

-FinnGen-

Year distribution of first events

-FinRegistry-

Cumulative Incidence Function

-FinnGen-

Cumulative Incidence Function

No data

CodeWAS (R11)

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
56
Matched controls
558
Code
Vocabulary
Description
Odds Ratio
-log10(p)
N matched cases
N matched controls
P94.2
ICD-10 Finland
Congenital hypotonia
+∞
36.5
31
*
P94.1
ICD-10 Finland
Congenital hypertonia
+∞
13.0
12
*
R62.0
ICD-10 Finland
Delayed milestone
9.4
9.3
20
31
F79.0
ICD-10 Finland
Unspecified mental retardation, with the statement of no, or minimal, impairment of behaviour
33.5
8.9
11
*
P94.9
ICD-10 Finland
Disorder of muscle tone of newborn, unspecified
+∞
8.5
8
*
R5110
NOMESCO Finland
Evaluation of the need for aids, the testing, fitting and choice of the aid, instruction in use and delivery of it
9.3
7.3
15
21
P85
ICPC
Mental retardation
26.2
6.9
9
*
R62.8
ICD-10 Finland
Other lack of expected normal physiological development
17.0
6.7
10
7
F79.9
ICD-10 Finland
Unspecified mental retardation, without mention of impairment of behaviour
+∞
6.4
6
*
P94.8
ICD-10 Finland
Other disorders of muscle tone of newborn
+∞
6.4
6
*
R4110
NOMESCO Finland
Physiotherapy
4.4
6.3
28
103

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
28
142
2.77
3.68
5.6
3.4
—
—
—
0
0
20
105
2.34
2.29
4.5
3.2
—
—
—
0
0
5
9
5.93
2.25
5.6
3.6
—
—
—
0
0
54
442
2.72
2.17
25.5
16.7
4.0
4.0
mmol/l
0.14
54
425
54
443
2.69
2.16
23.4
16.8
139.2
139.3
mmol/l
0.14
54
430
26
160
2.08
1.99
5.3
4.0
—
—
—
0
0
26
163
2.02
1.88
5.7
4.8
11.5
37.8
e6/l
0.80
19
127
35
244
2.00
1.88
13.5
19.2
1.2
1.2
mmol/l
0.03
35
229
5
13
4.08
1.75
1.6
4.6
—
—
—
0
0
21
125
2.03
1.72
9.2
13.8
—
—
—
0
0
23
143
1.97
1.67
10.9
21.1
24.2
24.6
mmol/l
0.32
23
143
38
280
1.92
1.66
11.0
5.5
129.6
128.7
u/l
0.02
38
262
27
178
1.92
1.65
8.5
8.1
—
—
—
0
0
44
341
2.00
1.65
4.0
3.1
14.4
14.5
pmol/l
0.07
36
311
18
103
2.05
1.63
4.7
4.0
—
—
—
0
0
11
51
2.41
1.62
1.8
1.8
—
—
—
0
0
23
146
1.91
1.56
5.3
4.3
0.1
0.1
e6/l
0.23
16
110
23
148
1.88
1.49
4.7
4.3
—
—
—
0
0
6
22
2.91
1.47
2.5
1.8
—
—
—
0
0
20
126
1.87
1.36
9.4
14.7
—
—
—
0
0
19
118
1.88
1.35
10.3
14.5
—
—
—
0
0
29
206
1.77
1.34
8.8
5.7
0.0
0.0
estimate
—
5
42
38
293
1.77
1.32
5.9
4.5
—
—
—
0
0
5
18
2.93
1.31
1.2
1.9
63.9
59.4
g/l
—
5
18
27
191
1.73
1.25
8.0
5.7
19.8
29.8
e6/l
0.38
19
129
54
471
2.13
1.25
14.1
9.7
—
—
—
0
0
5
19
2.77
1.24
3.8
17.0
—
—
—
0
0
29
210
1.72
1.23
5.3
4.1
0.0
0.0
estimate
—
5
43
8
39
2.20
1.20
5.5
2.9
64.0
95.5
mg/l
—
8
29
7
30
2.50
1.16
1.3
1.5
—
—
—
0
0
7
32
2.33
1.12
2.4
2.0
—
—
—
0
0
7
32
2.33
1.12
21.6
6.0
0.4
0.3
g/l
—
7
26
7
35
2.12
1.04
3.3
3.3
—
—
—
0
0
31
237
1.62
1.03
10.7
11.4
—
—
—
0
0
9
51
1.89
1.00
3.6
2.7
—
—
—
0
0
0
32
0.00
0.98
0.0
1.3
—
—
—
0
0
7
37
2.00
0.97
1.3
1.2
—
—
—
0
0
12
71
1.86
0.97
1.3
2.3
—
—
—
0
0
6
29
2.18
0.92
2.2
1.3
—
—
—
0
0
6
29
2.18
0.92
1.5
1.7
—
—
—
0
0
19
132
1.63
0.90
10.4
13.0
23.4
24.2
mmol/l
1.42
19
132
17
116
1.64
0.86
1.8
2.6
—
—
—
0
0
9
142
0.57
0.82
2.3
2.0
—
—
—
0
0
9
52
1.85
0.81
1.3
1.8
—
462.2
—
0
9
37
308
1.50
0.77
11.1
11.1
0.2
0.2
e9/l
0.56
32
254
36
299
1.49
0.75
10.9
10.3
0.6
0.6
e9/l
0.14
31
245
54
490
1.79
0.74
21.3
13.0
22.3
22.6
mg/l
0.02
41
357
36
300
1.48
0.73
10.9
10.2
0.0
0.0
e9/l
0.36
31
246
5
26
2.00
0.72
1.4
1.7
—
—
—
0
0
37
312
1.46
0.69
10.9
10.0
3.4
2.4
e9/l
0.45
31
261
5
28
1.85
0.67
1.0
1.2
—
—
—
0
0
35
293
1.45
0.67
11.5
10.4
2.4
3.2
%
1.42
35
281
26
206
1.45
0.67
1.7
1.6
1.5
1.5
g/l
0.08
14
107
14
97
1.57
0.66
4.6
3.6
557.1
580.4
mosm/kgh2o
0.17
14
83
14
98
1.55
0.63
1.3
1.2
—
—
—
0
0
35
296
1.42
0.62
11.7
10.4
7.4
8.4
%
1.21
35
287
0
20
0.00
0.61
0.0
1.7
—
5.0
—
0
14
0
19
0.00
0.61
0.0
1.2
—
—
—
0
0
0
22
0.00
0.60
0.0
1.0
—
—
—
0
0
0
22
0.00
0.60
0.0
1.0
—
—
—
0
0
0
23
0.00
0.59
0.0
3.2
—
—
—
0
0
24
191
1.42
0.59
2.3
2.3
—
—
—
0
0
38
329
1.40
0.57
13.7
11.9
4.3
3.7
e9/l
0.75
33
272
21
165
1.41
0.55
1.7
1.7
—
—
—
0
0
6
40
1.55
0.53
2.0
1.3
—
—
—
0
0
10
70
1.51
0.45
5.5
6.8
6.0
5.8
umol/l
—
10
64
0
15
0.00
0.42
0.0
4.5
—
—
—
0
0
10
72
1.46
0.40
3.8
21.8
1.8
1.3
mmol/l
—
10
63
5
76
0.63
0.38
1.0
2.1
—
—
—
0
0
7
51
1.42
0.33
1.3
1.4
—
—
—
0
0
13
103
1.33
0.31
3.5
4.1
1.0
1.0
kg/l
—
5
15
11
85
1.36
0.30
1.8
1.5
97.5
94.9
pmol/l
—
6
46
9
76
1.22
0.26
2.8
2.0
—
—
—
0
0
33
301
1.21
0.24
16.7
11.4
0.4
0.0
e9/l
0.49
27
229
14
117
1.25
0.23
1.9
1.8
—
—
—
0
0
9
110
0.79
0.22
1.6
1.7
—
—
—
0
0
0
10
0.00
0.21
0.0
1.2
—
—
—
0
0
0
12
0.00
0.21
0.0
1.1
—
—
—
0
0
0
12
0.00
0.21
0.0
1.2
—
—
—
0
0
0
12
0.00
0.21
0.0
1.2
—
—
—
0
0
0
13
0.00
0.21
0.0
1.5
—
—
—
0
0
50
484
1.17
0.12
25.0
18.4
38.5
38.6
%
0.06
43
432
5
44
1.15
0.10
1.0
1.0
20.6
19.3
mmol/l
—
5
44
5
44
1.15
0.10
1.0
1.0
—
—
—
0
0
7
79
0.87
0.07
1.7
1.4
—
—
—
0
0
11
100
1.12
0.05
5.8
5.0
—
—
—
0
0
13
120
1.11
0.05
5.3
3.4
—
—
—
0
0
14
143
0.97
0.00
1.5
2.1
—
—
—
0
0
0
8
0.00
0.00
0.0
2.1
—
—
—
0
0
0
9
0.00
0.00
0.0
1.7
—
—
—
0
0
0
5
0.00
0.00
0.0
34.4
—
0.7
—
0
5
0
6
0.00
0.00
0.0
2.0
—
—
—
0
0
0
5
0.00
0.00
0.0
1.8
—
—
—
0
0
0
5
0.00
0.00
0.0
5.8
—
—
—
0
0
0
5
0.00
0.00
0.0
1.8
—
—
—
0
0
0
6
0.00
0.00
0.0
5.2
—
0.5
—
0
6
0
5
0.00
0.00
0.0
1.0
—
—
—
0
0
0
6
0.00
0.00
0.0
12.8
—
—
—
0
0
0
9
0.00
0.00
0.0
5.4
—
4.4
—
0
9
0
5
0.00
0.00
0.0
2.4
—
—
—
0
0
0
7
0.00
0.00
0.0
3.1
—
—
—
0
0
0
8
0.00
0.00
0.0
14.3
—
9.5
—
0
8
0
5
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
9.2
—
0.6
—
0
5

Mortality – FinRegistry

Association

Association between endpoint P16_DISORD_MUSCLE_TONE_NEWBO and mortality.

Females

No data

Males

No data

Mortality risk

Mortality risk for people of age

years, who have P16_DISORD_MUSCLE_TONE_NEWBO.

N-year risk Females Males
1 No data No data
5 No data No data
10 No data No data
15 No data No data
20 No data No data

Relationships between endpoints

Index endpoint: P16_DISORD_MUSCLE_TONE_NEWBO – Disorders of muscle tone of newborn

GWS hits: -

Endpoint
Case Overlap
Survival Analysis
Genetic Correlations
Genetic Signals
N (Jaccard index)
HR [CI]
rg [CI]
Hits
Coloc Hits
FinRegistry
FinnGen
FinRegistry
FinnGen
FinnGen
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