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Congenital hydrocephalus

DOID EFO Endpoint Browser PheWeb

Q17_CONGEN_HYDROCEPHALUS

Endpoint definition

↥

Report an error or suggest an improvement for this endpoint codes

Endpoint definition steps

FinnGen

Phenotype data

519972

1. Apply sex-specific rule

None

519972

2. Check conditions

None

519972

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

Registry filters:

  • Hospital discharge: ICD-10 — Q03
  • Hospital discharge: ICD-9 — 7423
  • Hospital discharge: ICD-8 — 742
  • Cause of death: ICD-10 — Q03
  • Cause of death: ICD-9 — 7423
  • Cause of death: ICD-8 — 742

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

149

4. Check minimum number of events

None

149

5. Include endpoints

None

149

6. Filter based on genotype QC (FinnGen only)

144

Control definitions (FinnGen only)

Control exclude
Q17_CONGEN_MALFO_NERVOUS_SYSTEM

Extra metadata

Level in the ICD hierarchy
3
Special
Q17_HCCONG
First used in FinnGen datafreeze
DF4
Parent code in ICD-10
Q00-Q07
Name in latin
Hydrocephalia congenita

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 2458 1124 1328
Only index persons 1790 813 977
Unadjusted period prevalence (%)
Whole population 0.03 0.03 0.04
Only index persons 0.03 0.03 0.04
Median age at first event (years)
Whole population 3.23 3.70 2.57
Only index persons 3.93 5.20 2.87

-FinnGen-

Key figures

All Female Male
Number of individuals 144 74 70
Unadjusted period prevalence (%) 0.03 0.03 0.03
Median age at first event (years) 10.41 13.34 7.32

-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
149
Matched controls
1490
Code
Vocabulary
Description
Odds Ratio
-log10(p)
N matched cases
N matched controls
AAF20
NOMESCO Finland
Revision of shunt of ventricle of brain
+∞
46.3
42
*
Q03.9
ICD-10 Finland
Congenital hydrocephalus, unspecified
+∞
46.3
42
*
G91.1
ICD-10 Finland
Obstructive hydrocephalus
516.0
41.2
39
*
7423A
ICD-9 Finland
Other congenital anomalies of nervous system, Congenital hydrocephalus
+∞
37.0
34
*
74200
ICD-8 Finland
Congenital hydrocephalus, Communicans
+∞
35.9
33
*
G91.9
ICD-10 Finland
Hydrocephalus, unspecified
407.0
33.3
32
*
111
Kela drug reimbursment
Epilepsy and comparable convulsive disorders
12.5
32.6
36
37
74209
ICD-8 Finland
Congenital hydrocephalus, Unspecified
+∞
30.2
28
*
Q03.0
ICD-10 Finland
Malformations of aqueduct of Sylvius
+∞
30.2
28
*
2133
FHL
Suntin revisio
+∞
26.9
25
*
G91.0
ICD-10 Finland
Communicating hydrocephalus
312.3
26.6
26
*
AA7AA
NOMESCO Finland
Liquor cerebri shunt X-ray examinatin without contrast
+∞
23.6
22
*
AAF25
NOMESCO Finland
Removal of shunt of ventricle of brain
+∞
20.3
19
*
2132
FHL
Ventricular operators sunt
+∞
18.1
17
*
AAF05
NOMESCO Finland
Ventriculoperitoneal shunt
72.0
17.2
19
*
T85.0
ICD-10 Finland
Mechanical complication of ventricular intracranial (communicating) shunt
+∞
17.0
16
*
AA1AD
NOMESCO Finland
CT of head and brain
4.6
16.9
55
169
H47.2
ICD-10 Finland
Optic atrophy
+∞
15.9
15
*
G91.8
ICD-10 Finland
Other hydrocephalus
+∞
14.8
14
*
3313A
ICD-9 Finland
Other cerebral degenerations, Communicating hydrocephalus
+∞
14.8
14
*
G40.9
ICD-10 Finland
Epilepsy, unspecified
13.4
14.4
25
22
AAF99
NOMESCO Finland
Other shunt operation on ventricle of brain or intracerebral cyst
+∞
12.7
12
*
74201
ICD-8 Finland
Congenital hydrocephalus, Non communicans
+∞
12.7
12
*
AA1AA
NOMESCO Finland
Head X-ray examination
33.1
11.9
15
5
AAF00
NOMESCO Finland
Ventriculostomy
+∞
11.6
11
*
Q03.1
ICD-10 Finland
Atresia of foramina of Magendie and Luschka
+∞
11.6
11
*
74210, ,
ICD-8 Finland
+∞
10.5
10
*
3314A
ICD-9 Finland
Other cerebral degenerations, Obstructive hydrocephalus
+∞
10.5
10
*
G91.2
ICD-10 Finland
Normal-pressure hydrocephalus
43.2
10.1
12
*
AA1CG
NOMESCO Finland
Extensive MRI examination of brain with high intensity magnet
4.6
10.1
27
69
182
Kela drug reimbursment
Brivaracetam, eslikarbazepin, gabapentin, lacosamide, levetiracetam, perampanel, pregabalin, tiagabin and zonisamide
11.8
9.6
17
16
JN3AA
NOMESCO Finland
Abdominal X-ray examination without contrast
8.7
8.7
18
23
AA1BG
NOMESCO Finland
Standard MRI examination of brain with high intensity magnet
4.0
8.6
27
78
N03AG01
ATC
valproic acid; systemic, rectal
4.8
7.9
19
44
G40.20
ICD-10 Finland
Complex partial seizures with only alteration of consciousness
16.2
7.9
12
8
183
Kela drug reimbursment
Lamotrigin and topiramate
14.4
7.5
12
9
R42
ICD-10 Finland
Dizziness and giddiness
3.2
7.4
33
120
7410D
ICD-9 Finland
Spina bifida, With hydrocephalus[SPINA BIFIDA APERTA CUM HYDROCEPHALO REG LUMBALIS]
+∞
7.3
7
*
Q03.88
ICD-10 Finland
Other congenital hydrocephalus
+∞
7.3
7
*
AAF15
NOMESCO Finland
Ventriculoatrial shunt
+∞
7.3
7
*
GD1QA
NOMESCO Finland
Supine thorax X-ray examination
3.8
7.3
24
71
N03AX09
ATC
lamotrigine; oral
4.7
7.0
17
40
XCK00
NOMESCO Finland
Perimetry
7.0
6.9
16
25
Y83.1
ICD-10 Finland
Surgical operation with implant of artificial internal device as the cause of abnormal reaction of the patient, or of later complication, without mention of misadventure at the time of the procedure
42.0
6.8
8
*
N03AF02
ATC
oxcarbazepine; oral
6.3
6.4
16
28
2139
FHL
Other measure in this category
+∞
6.3
6
*
Q05.2
ICD-10 Finland
Lumbar spina bifida with hydrocephalus
+∞
6.3
6
*
T81.4
ICD-10 Finland
Infection following a procedure, not elsewhere classified
3.7
6.3
21
63

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
8
10
8.37
4.11
3.4
4.3
—
—
—
0
0
7
7
10.41
4.05
1.3
1.3
1.75
1.55
mmol/l
—
7
7
7
7
10.41
4.05
3.7
2.6
66.86
52.86
umol/l
—
7
7
59
392
1.84
3.12
6.7
7.5
1.20
1.22
mmol/l
1.12
54
361
24
115
2.30
3.09
1.5
1.7
—
—
—
0
0
19
379
0.43
3.08
2.7
2.0
—
—
—
0
0
10
26
4.05
3.04
3.2
3.2
—
—
—
0
0
62
424
1.79
2.95
6.2
8.4
1.20
1.22
mmol/l
0.57
51
366
8
210
0.35
2.83
3.0
1.8
—
—
—
0
0
28
466
0.51
2.67
2.2
2.3
—
—
—
0
0
20
338
0.53
1.91
1.5
1.5
—
—
—
0
0
44
304
1.63
1.90
2.4
2.4
—
—
—
0
0
6
17
3.63
1.85
1.3
1.2
—
—
—
0
0
35
229
1.69
1.85
2.4
4.5
—
—
—
0
0
17
294
0.52
1.74
1.2
1.7
—
—
—
0
0
0
46
0.00
1.74
0.0
1.3
—
—
—
0
0
0
47
0.00
1.74
0.0
1.4
—
—
—
0
0
0
47
0.00
1.74
0.0
1.3
—
—
—
0
0
8
31
2.67
1.68
2.9
5.4
—
—
—
0
0
39
270
1.60
1.65
3.5
2.6
—
—
—
0
0
10
45
2.31
1.50
14.9
8.8
24.92
24.14
mmol/l
—
10
45
17
96
1.87
1.46
8.2
11.9
1.14
1.33
mmol/l
—
9
76
5
16
3.20
1.45
4.8
4.4
—
—
—
0
0
40
288
1.53
1.42
3.4
2.1
338.09
248.19
u/l
0.21
35
277
5
17
3.01
1.37
1.2
1.4
—
—
—
0
0
10
48
2.16
1.31
11.6
18.3
—
—
—
0
0
43
322
1.47
1.27
2.6
3.4
2.37
2.35
mmol/l
0.34
38
286
31
217
1.54
1.25
1.7
1.8
2.99
3.08
mg/l
0.04
25
185
35
252
1.51
1.24
3.5
3.1
1.01
1.02
kg/l
—
5
32
51
399
1.42
1.19
12.5
8.4
1.17
1.13
inr
0.13
12
116
0
35
0.00
1.17
0.0
1.2
—
66.00
—
0
5
0
36
0.00
1.15
0.0
1.2
—
—
—
0
0
14
81
1.80
1.13
3.8
5.8
—
—
—
0
0
42
320
1.44
1.12
1.7
1.7
97.48
97.87
pmol/l
0.02
21
164
29
395
0.67
1.12
1.4
1.8
—
—
—
0
0
20
130
1.62
1.09
2.3
2.4
—
—
—
0
0
12
67
1.86
1.08
3.2
3.2
—
—
—
0
0
75
636
1.36
1.06
9.5
10.4
4.37
4.03
e9/l
0.57
67
564
11
60
1.90
1.06
6.0
12.5
—
—
—
0
0
13
209
0.59
1.03
1.3
1.5
—
—
—
0
0
22
307
0.67
0.95
1.2
1.3
0.90
1.35
u/ml
—
5
75
15
227
0.62
0.94
1.9
1.6
—
—
—
0
0
30
222
1.44
0.93
4.3
3.4
—
—
—
0
0
6
112
0.52
0.87
1.2
1.4
—
—
—
0
0
15
97
1.61
0.85
3.8
7.7
105.13
103.99
mmol/l
0.44
15
97
8
46
1.78
0.84
10.4
10.3
1.44
1.73
%
—
8
46
0
25
0.00
0.80
0.0
1.2
—
—
—
0
0
33
258
1.36
0.76
2.5
3.7
7.41
7.40
ph
—
8
44
5
24
2.12
0.75
1.0
1.1
—
0.18
—
0
11
7
38
1.88
0.74
1.4
3.2
0.49
0.62
%
—
7
38
7
41
1.74
0.71
1.4
3.0
1.14
1.68
%
—
7
41
34
272
1.32
0.68
3.6
3.2
0.00
0.01
estimate
—
9
100
58
500
1.26
0.66
2.6
2.4
71.54
96.55
ug/l
1.24
49
466
13
88
1.52
0.63
1.2
1.2
67.00
230.77
iu/ml
—
7
39
8
50
1.63
0.62
12.5
4.3
—
—
—
0
0
0
22
0.00
0.60
0.0
1.1
—
—
—
0
0
0
23
0.00
0.59
0.0
1.5
—
—
—
0
0
78
703
1.23
0.58
2.8
3.2
—
—
—
0
0
8
55
1.48
0.57
2.6
2.1
—
—
—
0
0
9
59
1.56
0.56
2.4
2.8
1.21
1.22
mmol/l
—
9
51
10
67
1.53
0.51
4.0
3.4
5.01
4.73
pmol/l
—
10
59
7
106
0.64
0.51
1.0
1.3
—
—
—
0
0
7
45
1.58
0.49
11.7
10.5
0.79
0.69
%
—
7
45
11
76
1.48
0.49
4.0
5.5
—
—
—
0
0
10
68
1.50
0.48
10.2
9.3
—
—
—
0
0
8
117
0.67
0.48
1.0
1.1
—
—
—
0
0
10
141
0.69
0.47
1.6
1.5
—
—
—
0
0
5
85
0.57
0.47
1.0
1.2
—
—
—
0
0
18
139
1.34
0.46
3.3
2.8
2.51
2.60
e6/l
—
10
75
116
1105
1.22
0.43
17.3
14.0
334.34
334.61
g/l
0.10
116
1098
0
15
0.00
0.41
0.0
1.3
—
—
—
0
0
0
15
0.00
0.41
0.0
1.2
—
208.45
—
0
15
59
532
1.18
0.41
3.7
3.2
0.00
0.00
estimate
—
10
104
0
18
0.00
0.40
0.0
3.9
—
—
—
0
0
0
18
0.00
0.40
0.0
1.4
—
—
—
0
0
0
19
0.00
0.39
0.0
2.8
—
—
—
0
0
63
573
1.17
0.39
5.2
6.9
1.96
1.88
e9/l
0.36
57
524
58
524
1.17
0.39
5.8
6.9
—
—
—
0
0
59
535
1.17
0.38
3.8
3.2
0.00
0.00
estimate
—
9
97
6
41
1.48
0.36
1.3
1.3
—
—
—
0
0
58
527
1.16
0.36
5.3
4.5
0.00
0.00
estimate
—
10
102
103
979
1.17
0.34
3.9
4.3
36.96
38.31
mmol/mol
0.80
92
933
31
271
1.18
0.30
7.5
8.4
—
—
—
0
0
7
57
1.24
0.29
1.7
2.0
32.57
113.39
ng/l
—
7
49
8
64
1.26
0.28
3.9
3.9
29.88
65.10
ng/l
—
8
59
8
65
1.24
0.27
37.6
3.8
5.09
5.05
kpa
—
8
59
11
138
0.78
0.27
1.1
1.3
—
—
—
0
0
5
73
0.67
0.26
1.2
1.2
72.20
136.66
u/ml
—
5
64
60
558
1.13
0.25
5.3
6.8
0.04
0.04
e9/l
0.17
53
503
60
559
1.12
0.25
5.3
6.8
0.58
0.55
e9/l
0.38
53
503
29
257
1.16
0.24
3.1
2.6
0.06
0.32
e6/l
1.98
22
190
25
282
0.86
0.22
1.6
1.5
1.95
2.17
g/l
0.50
15
177
5
40
1.26
0.22
14.2
9.3
23.72
24.84
mmol/l
—
5
40
5
42
1.20
0.21
2.0
1.4
—
—
—
0
0
0
10
0.00
0.21
0.0
1.6
—
0.87
—
0
10
0
10
0.00
0.21
0.0
1.1
—
153.50
—
0
10
0
10
0.00
0.21
0.0
1.0
—
—
—
0
0
0
10
0.00
0.21
0.0
8.9
—
0.58
—
0
10
0
12
0.00
0.21
0.0
1.3
—
—
—
0
0
0
13
0.00
0.21
0.0
1.2
—
—
—
0
0
11
133
0.81
0.20
1.5
1.8
—
—
—
0
0
0
14
0.00
0.20
0.0
3.4
—
45.00
—
0
7
26
233
1.14
0.19
1.9
2.2
0.91
1.17
mg/l
0.20
21
170
10
121
0.81
0.18
1.5
1.5
—
—
—
0
0
61
577
1.10
0.18
6.0
7.3
0.18
0.19
e9/l
0.05
53
525
7
60
1.17
0.18
1.4
1.1
—
—
—
0
0
17
194
0.86
0.18
1.3
1.2
58.45
28.94
iu/ml
0.31
11
67
7
61
1.15
0.18
1.9
1.6
297.71
314.37
mu/l
—
7
56
13
110
1.20
0.18
1.2
1.2
—
—
—
0
0
35
322
1.11
0.17
2.5
2.6
—
—
—
0
0
90
868
1.09
0.17
3.5
3.6
15.10
14.55
pmol/l
1.16
80
805
78
748
1.09
0.17
3.8
3.7
—
—
—
0
0
9
80
1.13
0.15
1.2
1.3
—
26.80
—
0
7
7
87
0.80
0.15
1.1
1.5
—
—
—
0
0
108
1054
1.09
0.14
4.3
4.2
1.91
1.79
mu/l
0.51
97
979
32
343
0.91
0.13
2.5
3.1
18.61
18.12
ng/l
0.04
18
188
28
259
1.10
0.12
3.2
2.6
—
—
—
0
0
37
348
1.08
0.12
4.0
3.4
22.93
40.78
e6/l
0.51
27
236
10
113
0.88
0.08
1.1
1.6
—
—
—
0
0
10
113
0.88
0.08
1.1
1.6
—
—
—
0
0
12
133
0.89
0.08
1.1
1.6
—
—
—
0
0
6
70
0.85
0.08
1.3
1.4
—
—
—
0
0
9
86
1.05
0.07
2.3
2.4
—
27.35
—
0
6
106
1076
0.95
0.07
3.6
3.6
5.53
5.74
mmol/l
1.71
95
1001
9
104
0.86
0.06
1.1
1.6
—
—
—
0
0
113
1142
0.96
0.04
3.5
3.8
2.98
2.86
mmol/l
0.58
102
1081
31
299
1.05
0.04
3.4
2.6
18.36
243.93
e6/l
0.53
25
229
21
200
1.06
0.04
1.2
1.4
17.72
21.35
nmol/l
0.61
15
166
25
240
1.05
0.03
3.3
3.1
—
—
—
0
0
114
1130
1.04
0.03
3.4
3.5
4.72
4.73
mmol/l
0.04
103
1074
19
199
0.95
0.03
1.2
1.3
—
—
—
0
0
122
1211
1.04
0.02
12.9
11.1
22.29
21.11
mg/l
0.19
100
882
107
1077
0.98
0.01
2.8
3.3
1.40
1.29
mmol/l
0.61
95
1015
128
1274
1.03
0.00
12.7
9.6
—
—
—
0
0
49
496
0.98
0.00
6.3
9.2
0.00
0.00
e9/l
-0.00
40
410
19
186
1.02
0.00
3.1
2.6
10.27
116.06
ng/l
1.99
11
108
137
1371
0.99
0.00
19.2
15.9
89.12
89.94
fl
1.36
137
1349
137
1369
1.01
0.00
19.6
16.0
40.91
41.14
%
0.16
123
1292
112
1124
0.99
0.00
3.4
3.5
1.37
1.44
mmol/l
1.12
101
1066
11
113
0.97
0.00
1.1
1.6
—
—
—
0
0
82
817
1.01
0.00
3.8
3.6
9.36
8.87
mm/h
0.18
77
755
11
112
0.98
0.00
1.1
1.6
—
—
—
0
0
137
1372
0.98
0.00
19.8
16.0
138.71
138.97
g/l
0.07
137
1349
8
88
0.90
0.00
5.0
2.8
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.0
—
18.98
—
0
5
0
7
0.00
-0.00
0.0
1.0
—
—
—
0
0
6
59
1.02
-0.00
2.5
1.7
8.67
4.05
ug/l
—
6
53
0
5
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.0
—
193.11
—
0
6
0
5
0.00
-0.00
0.0
1.6
—
58.80
—
0
5
137
1370
1.00
-0.00
19.2
15.8
29.82
30.17
pg
1.52
137
1348
0
9
0.00
-0.00
0.0
1.3
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.3
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.6
—
—
—
0
0
0
7
0.00
-0.00
0.0
1.3
—
—
—
0
0
0
9
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
6
0.00
-0.00
0.0
2.5
—
—
—
0
0
0
7
0.00
-0.00
0.0
2.6
—
—
—
0
0
0
5
0.00
-0.00
0.0
7.0
—
—
—
0
0
0
8
0.00
-0.00
0.0
1.1
—
—
—
0
0
0
8
0.00
-0.00
0.0
1.0
—
1398.63
—
0
8
0
6
0.00
-0.00
0.0
1.5
—
0.15
—
0
6
0
8
0.00
-0.00
0.0
1.1
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.5
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.8
—
—
—
0
0
6
69
0.86
-0.00
3.3
3.7
—
0.47
—
0
19
0
7
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.7
—
—
—
0
0
0
7
0.00
-0.00
0.0
1.4
—
8.70
—
0
7
0
9
0.00
-0.00
0.0
1.7
—
1.50
—
0
9
0
6
0.00
-0.00
0.0
1.7
—
—
—
0
0
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
8
0.00
-0.00
0.0
1.0
—
33.38
—
0
8
0
9
0.00
-0.00
0.0
1.4
—
—
—
0
0
0
7
0.00
-0.00
0.0
48.1
—
105.71
—
0
7
0
5
0.00
-0.00
0.0
1.8
—
29.94
—
0
5
0
8
0.00
-0.00
0.0
1.1
—
—
—
0
0
0
7
0.00
-0.00
0.0
1.6
—
—
—
0
0
5
51
0.98
-0.00
1.2
1.6
—
—
—
0
0
7
77
0.90
-0.00
2.4
2.8
0.22
0.24
g/l
—
7
71
0
6
0.00
-0.00
0.0
1.3
—
—
—
0
0
0
9
0.00
-0.00
0.0
1.7
—
—
—
0
0
0
8
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
8
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
8
0.00
-0.00
0.0
2.1
—
38100.00
—
0
8
0
7
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.0
—
8.50
—
0
6

Mortality – FinRegistry

↥

Association

Association between endpoint Q17_CONGEN_HYDROCEPHALUS and mortality.

Females

No data

Males

No data

Mortality risk

Mortality risk for people of age

years, who have Q17_CONGEN_HYDROCEPHALUS.

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: Q17_CONGEN_HYDROCEPHALUS – Congenital hydrocephalus

GWS hits: 1

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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