Other congenital malformations of nervous system

Q17_OTHER_CONGEN_MALFO_NERVOUS_SYSTEM

Endpoint definition

Report an error or suggest an improvement for this endpoint codes

Endpoint definition steps

FinnGen

Phenotype data

557745

1. Apply sex-specific rule

None

557745

2. Check conditions

None

557745

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

Registry filters:

  • Hospital discharge: ICD-10 Q07
  • Cause of death: ICD-10 Q07

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

419

4. Check minimum number of events

None

419

5. Include endpoints

None

419

6. Filter based on genotype QC (FinnGen only)

384

Control definitions (FinnGen only)

Control exclude
Q17_CONGEN_MALFO_NERVOUS_SYSTEM

Extra metadata

Level in the ICD hierarchy
3
First used in FinnGen datafreeze
DF4
Parent code in ICD-10
Q0
Name in latin
Aliae malformationes congenitae systematis nervosi

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 3361 2035 1322
Only index persons 2889 1839 1050
Unadjusted period prevalence (%)
Whole population 0.05 0.06 0.04
Only index persons 0.06 0.07 0.04
Median age at first event (years)
Whole population 19.42 24.31 11.87
Only index persons 23.03 27.09 15.91

-FinnGen-

Key figures

All Female Male
Number of individuals 384 312 72
Unadjusted period prevalence (%) 0.10 0.11 0.03
Median age at first event (years) 32.61 32.78 31.89

-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

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
397
Matched controls
3970
Code
Vocabulary
Description
Odds Ratio
-log10(p)
N matched cases
N matched controls
Q07.0
ICD-10 Finland
Arnold-Chiari syndrome
+∞
307.7
357
*
ABE50
NOMESCO Finland
Occipitocervical decompression
+∞
111.9
102
*
NA1BG
NOMESCO Finland
Cervical spine MRI examination with high intensity magnet
10.9
75.5
91
105
AA1BG
NOMESCO Finland
Standard MRI examination of brain with high intensity magnet
6.7
59.3
116
231
NA2BG
NOMESCO Finland
Thoracal spine MRI examination with high intensity magnet
12.9
47.3
48
42
R51.80
ICD-10 Finland
Headache
4.3
44.5
174
605
NA7CG
NOMESCO Finland
Spine and spinal cord extensive MRI examination with high intensity magnet
18.8
44.2
36
21
AA1CG
NOMESCO Finland
Extensive MRI examination of brain with high intensity magnet
5.6
43.1
97
216
G95.0
ICD-10 Finland
Syringomyelia and syringobulbia
240.4
42.8
43
*
Q07.8
ICD-10 Finland
Other specified congenital malformations of nervous system
+∞
36.0
34
*
N03AX12
ATC
[U] gabapentin; oral
4.6
34.4
99
268
R29.8
ICD-10 Finland
Other and unspecified symptoms and signs involving the nervous and musculoskeletal systems
5.0
28.4
68
157
AA1AD
NOMESCO Finland
CT of head and brain
3.6
28.1
121
431
R42
ICD-10 Finland
Dizziness and giddiness
3.6
28.1
122
437
R20.2
ICD-10 Finland
Paraesthesia of skin
4.6
25.3
68
172
G44.2
ICD-10 Finland
Tension-type headache
3.3
24.0
114
427
Z01.8
ICD-10 Finland
Other specified special examinations
3.0
21.7
126
528
N03AX16
ATC
[U] pregabalin
3.2
20.5
99
372
N06AX21
ATC
duloxetine; oral
3.4
19.7
81
275
R51
ICD-10 Finland
Headache
4.1
19.1
58
160
NA7BG
NOMESCO Finland
Spine and spinal cord MRI examination with high intensity magnet
19.8
17.6
26
14
WX700
NOMESCO Finland
Respiratory and circulatory monitoring
3.1
17.2
84
315
NA1CG
NOMESCO Finland
Cervical spine extensive MRI examination with high intensity magnet
13.5
16.9
29
23
Q07.9
ICD-10 Finland
Congenital malformation of nervous system, unspecified
+∞
16.8
16
*
N02BF01
ATC
gabapentin; oral
3.6
16.1
59
185
Z03.3
ICD-10 Finland
Observation for suspected nervous system disorder
4.3
15.3
42
107
UJD10
NOMESCO Finland
Esophagoscopy, gastroscopy and duodenoscopy
2.6
15.2
111
513
NA3BG
NOMESCO Finland
Lumbar spine MRI examination with high intensity magnet
3.4
15.2
60
197
G43.0
ICD-10 Finland
Migraine without aura [common migraine]
3.0
15.2
76
288
N02AX02
ATC
tramadol; systemic, rectal
2.2
12.9
152
860
TAB00
NOMESCO Finland
Lumbar puncture
4.0
12.1
36
97
G43.1
ICD-10 Finland
Migraine with aura [classical migraine]
2.7
12.1
71
292
R10.4
ICD-10 Finland
Other and unspecified abdominal pain
2.1
11.8
192
1223
N03AX09
ATC
lamotrigine; oral
3.3
11.7
46
150
N03AX11
ATC
topiramate; oral
4.6
11.6
28
64
L28
ICPC
Limited function/disability (L)
2.8
11.5
66
268
N03AE01
ATC
clonazepam; systemic
4.2
11.4
31
78
L01
ICPC
Neck symptom/complaint
2.4
11.1
97
480
N06CA01
ATC
amitriptyline and psycholeptics; systemic
3.2
10.8
44
147
A01
ICPC
Pain general/multiple sites
2.8
10.7
57
222
M54.4
ICD-10 Finland
Lumbago with sciatica
2.4
10.7
89
431
M35.7
ICD-10 Finland
Hypermobility syndrome
5.6
10.5
20
37
AAF20
NOMESCO Finland
Revision of shunt of ventricle of brain
112.9
10.5
11
*
A02BC02
ATC
pantoprazole; systemic
2.0
9.9
239
1716
TPH04
NOMESCO Finland
Cathetrisation of vein
2.3
9.8
84
410
SPAT1223
SPAT
Implementation of physical therapy rehabilitation plan
2.1
9.6
111
612
N06AX16
ATC
venlafaxine; oral
2.3
9.6
81
393
M54.5
ICD-10 Finland
Low back pain
2.0
9.4
161
1023
G43.3
ICD-10 Finland
Complicated migraine
4.5
9.2
23
54
SPAT1310
SPAT
Counselling related to known health issue
2.0
9.1
150
938
M03BX01
ATC
baclofen; systemic
7.7
9.0
20
27
NA1AA
NOMESCO Finland
Cervical spine X-ray examination without contrast
5.1
8.9
19
39
N03AX14
ATC
levetiracetam; systemic
4.8
8.9
20
43
R52.2
ICD-10 Finland
Other chronic pain
4.3
8.8
23
56
UKC02
NOMESCO Finland
Cystoscopy
3.1
8.7
38
132
111
Kela drug reimbursment
Epilepsy and comparable convulsive disorders
3.5
8.7
31
95
AA1DG
NOMESCO Finland
Very extensive MRI examination of brain with high intensity magnet
4.1
8.5
23
58
G47.3
ICD-10 Finland
Sleep apnoea
2.3
8.4
75
371
AA1BG, ,
SPAT
5.0
8.4
18
37
R5110
NOMESCO Finland
Evaluation of the need for aids, the testing, fitting and choice of the aid, instruction in use and delivery of it
2.7
8.4
49
200
M03BX02
ATC
tizanidine; oral
1.9
8.3
238
1764
XKD00
NOMESCO Finland
Uroflowmetry
3.2
8.3
34
114
H53.2
ICD-10 Finland
Diplopia
4.9
8.2
18
38
R52.9
ICD-10 Finland
Pain, unspecified
2.5
8.1
57
254
N99
ICPC
Neurological disease other
17.6
8.1
12
7
A02BC05
ATC
esomeprazole; systemic
1.9
8.1
139
875
AAF05
NOMESCO Finland
Ventriculoperitoneal shunt
22.6
8.1
11
5
SPAT1153
SPAT
Removal of sutures
2.0
8.0
102
580
WX882
NOMESCO Finland
High dependency care
3.6
7.8
26
76
AA1AG
NOMESCO Finland
Short MRI examination of brain with median intensity magnet
7.7
7.8
17
23
R41.8
ICD-10 Finland
Other and unspecified symptoms and signs involving cognitive functions and awareness
3.1
7.7
33
113
G91.9
ICD-10 Finland
Hydrocephalus, unspecified
45.9
7.7
9
*
N03AF02
ATC
oxcarbazepine; oral
3.6
7.7
25
72
N02AE01
ATC
buprenorphine; parenteral, sublingual, transdermal
2.9
7.6
36
131
XX9AW
NOMESCO Finland
Production of copy from X-ray picture
3.8
7.6
23
63
M54
ICD-10 Finland
Dorsalgia
2.2
7.5
68
338
SPAT1230
SPAT
Aid fitting and borrowing and monitoring of use
2.4
7.4
57
264
M79.6
ICD-10 Finland
Pain in limb
1.8
7.4
182
1273
R56.8
ICD-10 Finland
Other and unspecified convulsions
3.0
7.4
33
116
NA7DG
NOMESCO Finland
Spine and spinal cord very extensive MRI examination with high intensity magnet
8.6
7.4
15
18
NA3CG
NOMESCO Finland
Lumbar spine extensive MRI examination with high intensity magnet
4.3
7.4
19
46
SPAT1216
SPAT
Assessment of functional ability
2.6
7.3
46
194
SPAT1301
SPAT
No procedures
1.9
7.3
130
824
M51.3
ICD-10 Finland
Other specified intervertebral disc degeneration
3.1
7.2
30
101
R11
ICD-10 Finland
Nausea and vomiting
2.3
7.2
56
261
ZXE20
NOMESCO Finland
More than three and less than five hours
2.4
7.2
50
222
A02BC01
ATC
omeprazole; systemic
1.9
7.1
102
601
R10.3
ICD-10 Finland
Pain localized to other parts of lower abdomen
1.8
7.1
137
888
R90.8
ICD-10 Finland
Other abnormal findings on diagnostic imaging of central nervous system
7.2
7.1
16
23
N02CC01
ATC
sumatriptan; nasal, systemic, rectal
2.0
7.0
94
541
KC1EE
NOMESCO Finland
Ultrasound measurement of residual urine
3.1
7.0
29
98
M54.3
ICD-10 Finland
Sciatica
3.6
6.9
23
67
C09CA06
ATC
candesartan; oral
2.0
6.9
83
459
G43.9
ICD-10 Finland
Migraine, unspecified
2.3
6.9
56
266
WX402
NOMESCO Finland
General anaesthesia
1.9
6.9
104
624
M79.7
ICD-10 Finland
Fibromyalgia
3.5
6.8
23
68
Z09.0
ICD-10 Finland
Follow-up examination after surgery for other conditions
3.0
6.8
30
105
Z50.9
ICD-10 Finland
Care involving use of rehabilitation procedure, unspecified
3.8
6.7
20
54
R53
ICD-10 Finland
Malaise and fatigue
1.8
6.7
121
767
G44.8
ICD-10 Finland
Other specified headache syndromes
5.7
6.7
18
33
N06AA09
ATC
amitriptyline; systemic
2.9
6.6
31
112
NA1EA
NOMESCO Finland
Cervical spine X-ray examination with flexion
10.3
6.6
12
12
O99.3
ICD-10 Finland
Mental disorders and diseases of the nervous system complicating pregnancy, childbirth and the puerperium
3.5
6.5
22
65
ZYC01
NOMESCO Finland
Remote contact by phone
2.6
6.5
37
149
J45.9
ICD-10 Finland
Asthma, unspecified
2.0
6.5
83
470
AAF25
NOMESCO Finland
Removal of shunt of ventricle of brain
70.9
6.4
7
*
Q79.6
ICD-10 Finland
Ehlers-Danlos syndrome
14.6
6.4
10
7
N02BE01
ATC
paracetamol; systemic, rectal
2.1
6.4
336
2888
EB1HA
NOMESCO Finland
Panorama tomography of teeth and jaws or similar X-ray examination
1.7
6.4
193
1414
N05BA01
ATC
diazepam; systemic, rectal
2.3
6.3
49
228
R07.4
ICD-10 Finland
Chest pain, unspecified
1.9
6.3
89
520
UJF32
NOMESCO Finland
Coloscopy
2.0
6.3
72
391
H02AB06
ATC
prednisolone; systemic
1.7
6.3
164
1153
SPAT1263
SPAT
Sampling
1.7
6.3
177
1271
Z01.0
ICD-10 Finland
Examination of eyes and vision
2.0
6.3
77
429
182
Kela drug reimbursment
Brivaracetam, eslikarbazepin, gabapentin, lacosamide, levetiracetam, perampanel, pregabalin, tiagabin and zonisamide
5.2
6.3
18
36
3007
Kela drug reimbursment
Erenumab and fremanezumab
5.2
6.3
18
36
M01AE03
ATC
ketoprofen; systemic, rectal
1.8
6.2
105
652
F41.9
ICD-10 Finland
Anxiety disorder, unspecified
1.9
6.1
87
510
G40.9
ICD-10 Finland
Epilepsy, unspecified
3.5
6.1
21
63
N01
ICPC
Headache
1.8
6.1
102
630
S06.0
ICD-10 Finland
Concussion
2.2
6.0
56
281
A02BC03
ATC
lansoprazole; oral
1.9
6.0
81
466

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
238
1422
2.68
20.22
10.1
6.9
1.21
1.22
mmol/l
0.95
216
1258
218
1290
2.53
18.26
12.7
6.6
1.21
1.22
mmol/l
1.38
204
1218
67
228
3.33
16.07
16.8
8.4
7.41
7.42
ph
0.64
38
123
65
225
3.26
15.13
17.2
8.5
0.47
0.92
mmol/l
0.25
48
182
35
80
4.70
14.57
1.7
2.7
—
—
—
0
0
144
772
2.36
14.16
2.5
2.1
261.36
250.14
u/l
0.03
137
743
266
1842
2.35
14.14
9.3
4.8
5.95
6.24
mmol/l
2.35
254
1668
36
89
4.35
13.59
2.3
2.6
74.36
15.86
e6/l
0.82
28
63
36
91
4.25
13.21
2.3
2.6
138.39
208.14
e6/l
0.25
28
69
23
43
5.62
11.96
1.5
3.1
—
—
—
0
0
308
2349
2.39
11.94
7.5
7.0
76.88
79.39
u/l
0.42
296
2226
150
882
2.13
11.28
3.3
3.0
16.19
22.37
ng/l
0.42
74
421
381
3276
5.04
11.14
20.4
11.6
3.93
3.90
mmol/l
1.15
375
3188
380
3281
4.69
10.61
20.6
11.5
139.67
139.57
mmol/l
0.45
374
3204
167
1044
2.03
10.48
6.2
8.0
1.09
1.10
inr
0.12
144
863
22
46
5.00
10.13
1.4
3.8
—
—
—
0
0
177
1158
1.95
9.53
5.4
5.2
38.04
37.46
g/l
0.95
163
1107
348
2901
2.62
9.49
5.7
4.6
14.35
14.36
pmol/l
0.03
329
2708
79
384
2.32
9.32
1.3
1.2
—
—
—
0
0
95
503
2.17
9.10
1.6
1.5
105063743.71
18282371.80
pmol/l
0.38
79
454
216
1550
1.86
8.42
6.6
6.1
10.25
10.95
umol/l
0.22
204
1463
62
286
2.38
8.19
2.3
2.3
26.46
15.32
au/ml
—
9
28
373
3280
3.27
8.05
6.8
5.4
1.60
1.79
mu/l
3.90
358
3132
25
72
3.64
7.67
2.5
1.7
775.35
156.69
ug/l
0.76
17
64
174
1195
1.81
7.58
2.3
1.8
96.74
98.11
pmol/l
0.15
108
629
77
402
2.14
7.55
4.8
3.1
27.68
29.21
s
1.87
72
392
242
1841
1.81
7.41
7.1
6.8
0.04
0.04
e9/l
0.27
214
1588
57
265
2.34
7.38
25.5
9.9
24.07
24.98
mmol/l
0.98
57
265
142
927
1.83
7.24
3.6
2.5
51.49
62.81
u/l
1.41
131
871
241
1839
1.79
7.22
7.1
6.8
0.52
0.54
e9/l
0.63
212
1592
28
91
3.23
7.16
3.5
4.5
36.89
36.97
°c
0.75
28
91
78
421
2.06
6.98
2.9
2.4
2.59
2.44
g/l
1.83
72
389
211
1561
1.75
6.93
3.2
2.7
71.45
71.20
nmol/l
0.05
197
1461
73
387
2.09
6.84
2.0
2.1
375.48
387.98
nmol/l
0.20
66
366
53
248
2.31
6.75
11.2
5.3
7.41
7.41
ph
0.35
45
208
148
998
1.77
6.66
3.6
2.3
—
—
—
0
0
245
1907
1.74
6.57
7.7
7.2
0.19
0.19
e9/l
0.05
223
1687
135
890
1.78
6.54
5.0
4.7
—
—
—
0
0
149
1014
1.75
6.45
2.5
2.8
2.36
2.35
mmol/l
0.06
138
945
137
911
1.77
6.43
2.5
2.3
2.85
2.60
mg/l
0.78
118
789
386
3535
4.32
6.35
12.3
9.7
23.63
24.58
u/l
0.61
381
3459
116
743
1.79
6.14
2.6
2.2
0.85
1.03
mg/l
0.38
80
540
128
844
1.76
6.13
4.0
3.6
7.39
7.40
ph
0.59
92
599
58
295
2.13
6.03
20.2
9.1
—
—
—
0
0
242
1905
1.69
5.97
7.3
6.8
2.05
2.05
e9/l
0.03
219
1696
67
368
1.99
5.67
1.4
1.6
20.21
18.70
iu/l
0.14
53
304
254
2043
1.68
5.61
9.6
9.4
3.79
3.94
e9/l
0.52
224
1772
262
2133
1.67
5.44
3.8
3.3
70.63
66.38
ug/l
0.20
253
2033
64
353
1.97
5.34
1.7
1.5
1015.45
1108.93
nmol/l
0.42
53
279
31
127
2.56
5.27
2.7
3.1
91.42
124.36
ng/l
0.37
26
116
217
1698
1.61
5.17
7.5
6.8
0.62
0.68
%
0.96
208
1603
61
335
1.97
5.15
8.4
6.1
7.37
7.38
ph
0.17
32
197
324
2814
1.82
5.12
4.9
4.5
36.35
36.89
mmol/mol
0.61
306
2692
217
1701
1.61
5.10
7.3
6.8
2.75
2.86
%
0.36
208
1607
378
3486
2.76
4.82
18.2
11.6
15.32
19.72
mg/l
3.27
333
2749
93
597
1.73
4.76
3.6
2.5
528.46
561.18
mosm/kgh2o
0.65
86
516
157
1157
1.59
4.67
4.4
3.4
31.08
27.91
u/l
0.33
149
1104
54
294
1.97
4.67
3.5
2.8
9.31
10.09
g/l
1.31
48
274
112
760
1.66
4.66
1.8
1.5
18.92
20.38
nmol/l
0.49
98
666
387
3621
3.73
4.65
15.8
9.9
—
—
—
0
0
30
129
2.43
4.63
5.8
5.5
0.56
0.61
%
0.43
30
129
51
273
2.00
4.63
2.2
3.3
0.21
0.23
g/l
0.80
44
262
103
686
1.68
4.59
2.0
2.9
296.43
307.03
umol/l
0.51
92
622
49
260
2.01
4.55
4.2
4.9
0.14
0.78
%
1.98
14
67
152
1118
1.58
4.53
2.8
2.1
—
—
—
0
0
219
1752
1.56
4.50
7.1
6.6
53.88
55.40
%
1.11
212
1688
96
632
1.68
4.46
4.1
3.7
—
—
—
0
0
107
726
1.65
4.43
1.4
1.3
15.56
23.74
iu/ml
1.14
31
202
58
330
1.89
4.41
8.8
6.2
2.08
1.41
mmol/l
0.98
52
271
48
256
2.00
4.40
5.9
4.9
0.00
0.07
%
—
10
57
25
101
2.57
4.39
7.6
4.3
—
—
—
0
0
214
1709
1.55
4.39
7.6
6.9
8.17
8.20
%
0.06
205
1620
68
408
1.80
4.37
2.9
2.8
4.02
5.18
e9/l
0.90
60
369
13
29
4.60
4.28
1.2
1.3
1.29
0.53
ratio
—
8
15
138
1006
1.57
4.22
4.8
3.4
0.02
0.00
estimate
0.40
56
388
33
156
2.22
4.13
2.8
2.8
65.22
67.23
g/l
1.20
28
145
49
270
1.93
4.10
5.8
4.8
0.09
0.85
%
3.06
11
73
180
1402
1.52
4.03
4.9
3.1
0.07
0.01
estimate
0.36
42
339
161
1227
1.53
3.98
1.5
1.5
0.84
2.05
u/ml
1.53
47
321
119
849
1.57
3.95
4.4
3.1
1.02
1.02
kg/l
0.02
68
557
47
259
1.92
3.93
6.3
5.3
0.00
0.08
%
—
9
52
284
2449
1.56
3.86
4.4
3.2
33.24
32.64
u/l
0.06
273
2359
218
1782
1.50
3.79
7.4
6.7
31.35
30.67
%
0.40
210
1707
206
1675
1.48
3.61
3.3
2.7
—
—
estimate
—
0
0
229
1904
1.48
3.57
5.0
3.4
0.00
3.52
estimate
0.50
58
400
205
1669
1.47
3.55
11.9
9.7
0.00
0.00
e9/l
0.04
166
1348
94
651
1.58
3.51
2.7
2.6
90.62
83.78
ug/g
0.16
71
509
35
183
2.00
3.41
3.7
4.4
1.24
1.22
mmol/l
0.90
29
158
96
675
1.56
3.35
3.7
2.5
5.83
9.65
e6/l
1.83
89
595
331
2992
1.64
3.34
4.4
3.6
5.57
5.58
mmol/l
0.05
311
2811
229
1920
1.46
3.31
5.2
3.4
0.00
0.00
estimate
-0.00
57
379
61
389
1.67
3.16
1.3
1.3
121.84
153.34
u/ml
0.38
22
155
151
1179
1.45
3.15
8.0
6.9
—
—
—
0
0
25
119
2.17
3.11
32.8
10.0
16.17
16.02
%
0.11
25
113
43
249
1.82
3.11
9.8
6.8
24.61
23.79
mmol/l
1.83
43
249
71
473
1.61
3.10
2.1
2.1
2.41
2.41
mmol/l
0.07
64
420
96
687
1.52
3.07
1.4
1.3
3.70
10.29
u/ml
1.57
39
262
224
1889
1.43
3.03
5.1
3.4
0.00
0.00
estimate
0.50
53
404
5
5
10.10
2.98
1.2
1.2
—
—
—
0
0
139
1080
1.44
2.94
1.8
1.5
1.80
2.00
g/l
1.35
89
666
52
325
1.69
2.91
2.2
2.5
26.02
31.44
u/l
0.88
44
263
10
27
3.77
2.90
6.5
4.6
1.76
1.69
ug/l
—
10
27
12
38
3.22
2.87
1.0
1.4
—
—
nmol/l
—
0
0
134
1041
1.43
2.81
4.6
3.0
14.81
81.05
e6/l
1.57
103
756
188
1552
1.40
2.79
4.4
3.1
6.18
6.25
ph
0.43
100
845
49
305
1.69
2.78
1.5
1.6
328.12
313.33
mu/l
0.10
44
278
32
176
1.89
2.73
1.7
2.0
2.15
3.63
iu/ml
—
8
32
34
192
1.84
2.68
14.6
5.7
—
—
—
0
0
19
86
2.27
2.68
10.1
4.0
1.47
1.55
%
0.13
19
79
117
894
1.44
2.67
4.3
3.0
—
—
estimate
—
0
0
59
391
1.60
2.63
4.2
4.0
5.09
6.92
umol/l
0.73
53
329
73
511
1.53
2.57
3.8
2.9
4.78
3.32
e6/l
0.51
37
231
15
62
2.48
2.57
1.2
1.5
20.60
23.22
ng/l
0.36
15
62
17
75
2.32
2.54
11.0
4.1
0.79
0.84
%
0.18
17
68
61
414
1.56
2.47
1.8
1.7
—
—
—
0
0
79
571
1.48
2.39
1.5
1.4
517.33
511.93
titre
0.01
15
114
5
8
6.31
2.38
3.0
2.1
—
—
—
0
0
5
8
6.31
2.38
1.8
2.6
—
—
—
0
0
5
8
6.31
2.38
2.6
2.8
11.60
8.13
%
—
5
8
20
98
2.10
2.36
2.5
2.2
—
—
—
0
0
115
895
1.40
2.33
4.5
3.0
0.34
0.33
e6/l
0.01
86
624
28
156
1.86
2.32
5.3
4.0
20.48
20.51
s
0.01
23
140
6
13
4.67
2.28
1.0
1.0
205.00
140.77
mmol/24h
—
6
13
37
227
1.69
2.24
2.8
4.1
7.35
7.35
ph
0.02
26
173
5
9
5.61
2.22
2.8
2.6
33.80
24.67
%
—
5
9
9
30
3.05
2.16
1.3
1.4
5.74
5.75
mmol/l
—
9
24
5
10
5.05
2.07
1.0
1.0
—
—
—
0
0
49
333
1.54
1.99
1.4
1.3
135.70
287.76
u/ml
0.90
44
306
134
1095
1.34
1.97
4.3
2.7
0.07
0.01
estimate
0.38
46
336
41
268
1.59
1.96
1.5
1.5
—
—
—
0
0
5
11
4.59
1.94
2.0
3.7
160.80
172.55
ug/l
—
5
11
20
106
1.93
1.94
2.8
1.4
416.14
352.22
mu/l
0.29
14
89
6
16
3.79
1.94
3.7
2.8
376.67
148.06
nmol/l
—
6
16
14
65
2.20
1.90
10.1
7.5
65.64
62.24
%
0.30
14
65
313
2898
1.38
1.85
3.6
3.3
1.17
1.17
mmol/l
0.01
295
2747
6
17
3.57
1.84
2.5
2.0
176.67
232.41
e6/l
—
6
17
16
80
2.04
1.82
2.5
2.8
3.80
2.36
index
—
10
47
7
23
3.08
1.80
1.0
1.0
1891.43
1566.74
miu/ml
—
7
23
20
110
1.86
1.76
3.6
2.3
—
—
—
0
0
333
3123
1.41
1.75
4.6
4.2
2.76
2.77
mmol/l
0.11
320
2987
36
235
1.58
1.75
1.3
1.8
7.90
9.36
u/l
0.34
25
178
62
455
1.43
1.74
1.3
1.2
—
—
—
0
0
154
1303
1.30
1.73
5.5
3.6
52.59
54.77
e6/l
0.02
110
819
14
69
2.07
1.66
3.3
3.4
7.40
7.41
ph
0.53
14
69
21
120
1.79
1.65
1.1
1.1
—
—
—
0
0
21
120
1.79
1.65
1.1
1.1
—
—
—
0
0
10
41
2.48
1.65
2.0
3.4
37.16
41.88
%
—
10
41
10
43
2.36
1.60
1.4
1.2
—
—
—
0
0
16
86
1.90
1.52
7.7
7.9
—
—
—
0
0
151
1292
1.27
1.51
2.0
1.9
—
—
—
0
0
60
450
1.39
1.50
2.6
2.4
3297.45
5793.06
u/l
0.41
19
192
329
3100
1.36
1.50
4.0
3.8
1.47
1.49
mmol/l
0.21
314
2959
65
495
1.37
1.49
4.2
3.0
79.06
307.94
ng/l
1.84
34
268
330
3113
1.36
1.48
4.2
3.9
4.59
4.66
mmol/l
0.64
316
2987
6
22
2.75
1.44
2.7
3.0
1.37
2.27
nmol/l
—
6
22
27
174
1.59
1.41
2.7
2.0
—
—
—
0
0
7
29
2.44
1.40
1.3
2.0
—
—
—
0
0
11
53
2.11
1.39
1.3
2.2
—
—
—
0
0
11
53
2.11
1.39
1.1
1.0
—
—
—
0
0
44
317
1.44
1.39
1.4
1.4
—
—
—
0
0
32
217
1.52
1.35
3.3
2.0
0.18
0.14
e6/l
0.20
27
205
18
105
1.75
1.35
1.8
1.6
—
—
—
0
0
22
137
1.64
1.32
1.8
2.4
8.48
4.18
iu/l
—
10
59
17
99
1.75
1.29
1.4
1.4
303.20
319.19
ug/g
—
10
52
24
154
1.59
1.29
1.9
1.6
—
—
—
0
0
5
18
2.80
1.29
1.0
1.1
—
—
—
0
0
50
375
1.38
1.27
2.1
1.7
—
—
—
0
0
19
115
1.68
1.27
1.5
1.4
10.51
15.83
u/l
0.54
14
99
16
92
1.77
1.27
1.1
1.2
—
—
—
0
0
50
376
1.38
1.25
2.1
1.7
—
—
—
0
0
8
36
2.25
1.25
16.5
12.0
12.47
11.47
%
—
8
36
6
25
2.42
1.25
2.3
1.1
120.17
117.12
pmol/l
—
6
25
6
25
2.42
1.25
7.5
3.2
—
—
—
0
0
10
49
2.07
1.23
1.8
4.4
—
—
—
0
0
5
19
2.65
1.22
1.2
1.2
—
—
—
0
0
104
872
1.26
1.21
1.7
1.7
—
—
—
0
0
50
379
1.37
1.20
2.1
1.7
—
—
—
0
0
27
183
1.51
1.17
1.0
1.1
—
—
—
0
0
52
400
1.35
1.14
1.8
1.5
—
—
—
0
0
34
243
1.44
1.14
1.4
1.3
—
—
—
0
0
19
119
1.63
1.14
1.5
1.3
—
1.81
—
0
9
7
30
2.36
1.13
1.6
1.7
93.23
92.33
%
—
7
30
41
305
1.38
1.11
2.1
1.7
—
—
—
0
0
35
473
0.71
1.10
1.2
1.3
—
—
—
0
0
5
21
2.40
1.09
2.6
2.3
—
—
—
0
0
39
289
1.39
1.08
1.9
1.9
0.00
0.05
estimate
0.49
13
64
108
924
1.23
1.05
3.7
3.6
7.13
8.39
mmol/l
2.01
98
819
50
628
0.77
0.98
1.6
1.6
1108.22
977.82
mu/l
0.33
40
544
9
50
1.82
0.97
2.8
4.9
6.60
7.69
pmol/l
—
9
50
18
268
0.66
0.96
1.7
1.6
—
—
—
0
0
48
377
1.31
0.94
1.4
1.4
—
—
—
0
0
22
151
1.48
0.92
1.4
1.2
—
—
—
0
0
43
336
1.31
0.88
1.5
1.9
—
—
—
0
0
18
262
0.67
0.87
1.6
1.5
—
—
—
0
0
47
376
1.28
0.82
2.1
1.7
—
—
—
0
0
34
260
1.34
0.81
2.7
1.8
6.16
6.26
ph
0.30
25
168
10
58
1.74
0.80
1.9
1.7
13.19
13.15
%
—
10
58
0
24
0.00
0.79
0.0
1.1
—
—
—
0
0
18
256
0.69
0.78
1.6
1.5
1.36
1.29
mm
0.11
13
192
30
227
1.35
0.77
1.3
1.2
—
—
—
0
0
6
34
1.78
0.76
1.0
1.1
—
—
—
0
0
9
54
1.68
0.75
1.4
1.3
—
—
—
0
0
32
246
1.33
0.75
1.3
1.2
—
—
—
0
0
5
24
2.10
0.74
1.8
3.8
0.40
0.87
index
—
5
24
21
151
1.41
0.73
1.8
1.9
0.00
0.02
estimate
—
9
49
9
56
1.62
0.73
2.0
2.1
—
—
—
0
0
5
27
1.86
0.68
1.4
1.5
—
—
—
0
0
43
351
1.25
0.66
2.2
1.7
—
—
—
0
0
5
29
1.73
0.64
1.0
1.0
8.00
8.31
mm/h
—
5
29
8
50
1.61
0.61
2.4
3.2
4.63
4.89
kpa
—
8
50
8
50
1.61
0.61
2.4
3.2
9.67
9.54
kpa
—
8
50
8
52
1.55
0.60
1.9
1.3
—
—
—
0
0
16
114
1.42
0.59
1.1
1.2
—
—
—
0
0
33
265
1.27
0.59
2.3
2.1
—
—
—
0
0
8
53
1.52
0.58
1.3
1.2
—
—
—
0
0
0
23
0.00
0.58
0.0
3.0
—
43.80
—
0
10
19
141
1.36
0.57
1.4
1.5
0.38
0.42
nmol/l
0.15
13
119
9
63
1.44
0.52
1.6
1.4
—
—
—
0
0
26
206
1.28
0.52
3.6
3.8
64.67
72.62
e9/l
0.45
20
141
10
67
1.51
0.50
3.1
1.7
0.41
5.72
ug/l
—
10
60
7
45
1.57
0.49
1.3
1.6
—
—
—
0
0
330
3216
1.15
0.47
20.9
14.8
332.66
333.05
g/l
0.35
330
3203
15
111
1.37
0.47
1.0
1.2
—
—
—
0
0
29
237
1.24
0.47
1.1
1.1
—
—
—
0
0
73
651
1.15
0.46
1.9
1.6
—
—
—
0
0
17
129
1.33
0.46
1.9
1.6
222.10
204.92
u/ml
—
10
71
114
1049
1.12
0.45
6.2
6.1
—
—
—
0
0
16
122
1.32
0.43
2.4
6.4
764.29
361.74
mg/l
—
7
72
17
131
1.31
0.43
1.2
1.5
—
8.43
—
0
6
26
213
1.24
0.42
1.7
1.5
—
—
—
0
0
0
15
0.00
0.41
0.0
1.4
—
0.00
—
0
15
109
1177
0.90
0.41
2.1
1.8
—
—
—
0
0
0
17
0.00
0.40
0.0
1.1
—
—
—
0
0
12
160
0.74
0.40
1.2
1.1
9.58
2.49
u/ml
—
7
99
5
35
1.43
0.39
2.0
2.3
1.43
0.70
e9/l
—
5
35
9
71
1.27
0.36
3.2
2.8
—
26.60
—
0
5
5
78
0.64
0.36
1.2
1.1
—
42.95
—
0
20
6
45
1.34
0.34
7.0
3.5
—
—
—
0
0
8
108
0.74
0.29
2.3
1.9
—
—
—
0
0
37
327
1.15
0.29
4.1
3.4
—
—
—
0
0
135
1281
1.08
0.29
1.7
1.8
1.26
1.32
mmol/l
0.36
118
1146
10
128
0.78
0.27
1.0
1.1
25.89
6.69
u/ml
—
5
71
22
189
1.17
0.24
1.5
1.4
0.10
0.26
mg/l
—
8
75
18
153
1.18
0.22
3.1
2.6
0.52
0.74
ug/l
1.62
11
78
100
1052
0.93
0.21
1.9
1.9
—
—
—
0
0
0
11
0.00
0.21
0.0
1.4
—
24.30
—
0
11
0
10
0.00
0.21
0.0
1.0
—
—
—
0
0
0
12
0.00
0.21
0.0
1.3
—
—
—
0
0
0
14
0.00
0.20
0.0
1.1
—
73.41
—
0
14
7
61
1.15
0.17
3.4
3.9
4.28
4.19
e9/l
—
7
61
28
254
1.11
0.16
1.4
1.4
228.43
261.26
miu/ml
0.18
14
127
141
1366
1.05
0.16
1.8
1.8
—
—
—
0
0
146
1416
1.05
0.15
2.4
2.4
—
—
—
0
0
14
121
1.16
0.15
1.4
1.2
—
—
—
0
0
11
94
1.18
0.13
2.6
3.1
56.04
57.38
%
0.09
11
94
9
110
0.81
0.13
1.6
1.3
—
—
—
0
0
16
179
0.89
0.12
1.7
4.3
2.24
6.78
ug/l
—
9
132
42
395
1.07
0.12
1.2
1.2
—
—
—
0
0
24
220
1.10
0.12
2.6
2.2
21.30
46.69
u/ml
1.34
24
211
69
661
1.05
0.12
4.3
4.3
4.14
11.41
mg/mmol
1.68
43
425
30
281
1.07
0.10
1.6
1.7
—
—
—
0
0
52
499
1.05
0.08
1.7
2.0
—
—
—
0
0
7
81
0.86
0.07
2.4
2.2
8.17
9.65
mg/l
—
7
75
9
86
1.05
0.07
1.0
1.2
—
—
—
0
0
16
173
0.92
0.07
1.1
1.1
1.48
1.59
g/l
1.12
16
173
35
363
0.96
0.05
1.4
1.4
—
—
—
0
0
143
1445
0.98
0.03
2.2
2.3
—
—
—
0
0
43
419
1.03
0.03
1.6
1.5
—
—
—
0
0
29
297
0.97
0.01
1.1
1.2
—
116.11
—
0
9
18
179
1.01
0.00
1.2
1.2
0.85
0.87
g/l
0.11
18
179
13
127
1.02
0.00
1.2
1.4
—
—
—
0
0
66
655
1.01
0.00
4.0
3.6
21.73
71.90
mg/l
2.87
44
440
40
395
1.01
0.00
1.7
1.6
3.55
3.39
mmol/l
0.35
23
268
0
5
0.00
0.00
0.0
1.6
—
38.00
—
0
5
0
5
0.00
0.00
0.0
2.4
—
3.20
—
0
5
0
5
0.00
0.00
0.0
1.2
—
—
—
0
0
0
5
0.00
0.00
0.0
1.4
—
829.20
—
0
5
0
5
0.00
0.00
0.0
1.2
—
—
—
0
0
0
5
0.00
0.00
0.0
1.0
—
—
—
0
0
5
49
1.02
-0.00
1.2
1.2
—
278.75
—
0
8
0
7
0.00
-0.00
0.0
9.7
—
9.71
—
0
7
5
49
1.02
-0.00
1.4
3.6
6.06
6.50
u/ml
—
5
49
0
7
0.00
-0.00
0.0
4.9
—
45.43
—
0
7
5
58
0.86
-0.00
2.2
1.6
—
—
—
0
0
7
73
0.96
-0.00
1.7
1.0
—
—
—
0
0
0
8
0.00
-0.00
0.0
1.9
—
17.02
—
0
8
0
9
0.00
-0.00
0.0
8.4
—
—
—
0
0
8
79
1.01
-0.00
1.3
2.2
1.33
0.88
nmol/l
—
8
73
0
7
0.00
-0.00
0.0
1.1
—
—
—
0
0
5
58
0.86
-0.00
2.2
1.6
—
—
—
0
0
5
58
0.86
-0.00
2.2
1.6
—
—
—
0
0
0
8
0.00
-0.00
0.0
1.1
—
—
—
0
0
5
58
0.86
-0.00
2.2
1.6
—
—
—
0
0

Mortality – FinRegistry

Association

Association between endpoint Q17_OTHER_CONGEN_MALFO_NERVOUS_SYSTEM and mortality.

Females

Parameter HR [95% CI] p-value
Q17_OTHER_CONGEN_MALFO_NERVOUS_SYSTEM 1.466 [1.11, 1.94] 0.008
Birth year 1.002 [0.99, 1.01] 0.727

During the follow-up period (1.1.1998 — 31.12.2019), 59 out of 1703 females with Q17_OTHER_CONGEN_MALFO_NERVOUS_SYSTEM died.

Males

Parameter HR [95% CI] p-value
Q17_OTHER_CONGEN_MALFO_NERVOUS_SYSTEM 2.062 [1.43, 2.98] < 0.001
Birth year 0.987 [0.98, 1.0] 0.006

During the follow-up period (1.1.1998 — 31.12.2019), 52 out of 1152 males with Q17_OTHER_CONGEN_MALFO_NERVOUS_SYSTEM died.

Mortality risk

Mortality risk for people of age

years, who have Q17_OTHER_CONGEN_MALFO_NERVOUS_SYSTEM.

N-year risk Females Males
1 0.184% 0.435%
5 1.029% 2.466%
10 2.689% 5.886%
15 4.951% 11.231%
20 8.946% 18.364%

Relationships between endpoints

Index endpoint: Q17_OTHER_CONGEN_MALFO_NERVOUS_SYSTEM – Other congenital malformations of nervous system

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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