spina bifida: A congenital neural tube defect in which vertebrae are not fully formed. It results in the protrusion of the spinal cord through the opening of the vertebrae.
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. |
86 |
4. Check minimum number of eventsNone |
86 |
5. Include endpointsNone |
86 |
6. Filter based on genotype QC (FinnGen only) |
79 |
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
Similar endpoints
↥List of similar endpoints to
Spina bifida
based on the number of shared cases.
Similar with more cases:
- Congenital malformations of the nervous system
- Congenital malformations, deformations and chromosomal abnormalities
- Congenital malformations, deformations and chromosomal abnormalities
- Any operation in hilmo
- Any event in hilmo or specialist outpatient
Similar with less cases:
None
Case counts by codes
↥
Summary Statistics
↥-FinRegistry-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | |||
| Whole population | 1097 | 602 | 489 |
| Only index persons | 925 | 521 | 404 |
| Unadjusted period prevalence (%) | |||
| Whole population | 0.02 | 0.02 | 0.01 |
| Only index persons | 0.02 | 0.02 | 0.02 |
| Median age at first event (years) | |||
| Whole population | 12.19 | 14.94 | 8.44 |
| Only index persons | 15.83 | 18.69 | 12.14 |
-FinnGen-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | 79 | 53 | 26 |
| Unadjusted period prevalence (%) | 0.02 | 0.02 | 0.01 |
| Median age at first event (years) | 27.09 | 25.41 | 30.52 |
-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
- 86
- Matched controls
- 860
Code
Vocabulary
Description
Odds Ratio
-log10(p)
N matched cases
N matched controls
Q05.2
ICD-10 Finland
Lumbar spina bifida with hydrocephalus
+∞
43.5
38
*
Q05.7
ICD-10 Finland
Lumbar spina bifida without hydrocephalus
+∞
36.0
32
*
Q05.9
ICD-10 Finland
Spina bifida, unspecified
+∞
32.3
29
*
UKC02
NOMESCO Finland
Cystoscopy
13.7
29.8
35
41
7410D
ICD-9 Finland
Spina bifida, With hydrocephalus[SPINA BIFIDA APERTA CUM HYDROCEPHALO REG LUMBALIS]
+∞
28.8
26
*
XKC03
NOMESCO Finland
Water cystometry
79.3
28.5
31
6
204
Kela drug reimbursment
Leukemia lymphatica
40.9
24.3
30
11
G04AC01, ,
ATC
37.5
23.8
30
12
J01EA01
ATC
trimethoprim; systemic
8.2
21.9
52
135
G04BD04
ATC
oxybutynin; oral, transdermal
28.9
20.8
28
14
N31.0
ICD-10 Finland
Uninhibited neuropathic bladder, not elsewhere classified
+∞
20.6
19
*
L89
ICD-10 Finland
Decubitus ulcer and pressure area
+∞
20.6
19
*
J01XE01
ATC
nitrofurantoin; oral
36.2
19.1
24
9
N10
ICD-10 Finland
Acute tubulo-interstitial nephritis
7.7
18.0
33
64
KH1AE
NOMESCO Finland
Urinary tract ultrasound examination
17.1
15.7
25
20
N31.9
ICD-10 Finland
Neuromuscular dysfunction of bladder, unspecified
69.6
15.4
17
*
7419D
ICD-9 Finland
Spina bifida, Without mention of hydrocephalus[SPINA BIFIDA APERTA SINE HYDROCEPHALO REG LUMBALIS]
+∞
15.0
14
*
Q05.0
ICD-10 Finland
Cervical spina bifida with hydrocephalus
+∞
15.0
14
*
KA1AE
NOMESCO Finland
Kidney ultrasound examination
52.1
14.7
17
*
XKD06
NOMESCO Finland
Physiologic investigation of micturition
29.9
14.5
19
8
J01MA12
ATC
levofloxacin; systemic
6.5
14.1
29
62
R15
ICD-10 Finland
Faecal incontinence
31.9
14.0
18
7
Q05.8
ICD-10 Finland
Sacral spina bifida without hydrocephalus
+∞
13.9
13
*
G95.8
ICD-10 Finland
Other specified diseases of spinal cord
165.0
13.9
14
*
J01MA02
ATC
ciprofloxacin; systemic
4.9
12.3
49
182
G04BD07
ATC
tolterodine; oral
20.3
12.3
18
11
N39.0
ICD-10 Finland
Urinary tract infection, site not specified
5.6
12.2
30
75
QDB10
NOMESCO Finland
Major dressing of wound of skin of lower limb
20.8
11.8
17
10
M41.4
ICD-10 Finland
Neuromuscular scoliosis
+∞
11.7
11
*
N39.4
ICD-10 Finland
Other specified urinary incontinence
14.9
11.5
19
16
1530
FHL
Urethrocystoscopy
32.9
11.1
14
5
S97
ICPC
Chronic ulcer skin
14.8
11.0
18
15
AAF20
NOMESCO Finland
Revision of shunt of ventricle of brain
+∞
10.6
10
*
Q05.3
ICD-10 Finland
Sacral spina bifida with hydrocephalus
+∞
10.6
10
*
74101
ICD-8 Finland
Spina bifida, Cum hydrocephalo, non cute tecta
+∞
10.6
10
*
74190
ICD-8 Finland
Spina bifida, Hydrocephalo non indicato, cute tecta
+∞
10.6
10
*
G04BD08
ATC
solifenacin; oral
13.0
10.4
18
17
A46
ICD-10 Finland
Erysipelas
5.7
10.0
22
49
XKD00
NOMESCO Finland
Uroflowmetry
8.1
9.2
21
33
9165
FHL
Removal of osteosynthesis material
55.9
8.9
10
*
SPAT1262
SPAT
Handing over of treatment supplies
4.9
8.6
23
60
KCV12
NOMESCO Finland
Urinary bladder endoscopic botulin therapy
+∞
8.5
8
*
74100
ICD-8 Finland
Spina bifida, Cum hydrocephalo, cute tecta
+∞
8.5
8
*
74191
ICD-8 Finland
Spina bifida, Hydrocephalo non indicato, non ente tecta
+∞
8.5
8
*
KDV20
NOMESCO Finland
Submucous urethral injection
+∞
8.5
8
*
74199
ICD-8 Finland
Spina bifida, Without mention of hydrocephalus
+∞
8.5
8
*
AAF05
NOMESCO Finland
Ventriculoperitoneal shunt
+∞
8.5
8
*
Q06.8
ICD-10 Finland
Other specified congenital malformations of spinal cord
+∞
8.5
8
*
SPAT1229
SPAT
Assessment of need for aid
13.7
8.4
14
12
R5110
NOMESCO Finland
Evaluation of the need for aids, the testing, fitting and choice of the aid, instruction in use and delivery of it
5.4
8.1
18
40
N31.8
ICD-10 Finland
Other neuromuscular dysfunction of bladder
49.7
7.9
9
*
JN3AA
NOMESCO Finland
Abdominal X-ray examination without contrast
15.2
7.6
12
9
N32.82
ICD-10 Finland
Instability of the detrusor vesicae muscle
87.3
7.5
8
*
2133
FHL
Suntin revisio
+∞
7.4
7
*
H01BA02
ATC
desmopressin; nasal, systemic, sublingual
22.3
7.3
10
5
J01MA06
ATC
norfloxacin; oral
4.7
7.2
19
49
R33
ICD-10 Finland
Retention of urine
9.1
6.9
14
18
ZXE10
NOMESCO Finland
More than one and less than three hours
3.4
6.9
38
164
QBB05
NOMESCO Finland
Revision of wound of skin of trunk
43.6
6.9
8
*
SPAT1230
SPAT
Aid fitting and borrowing and monitoring of use
4.5
6.8
19
51
NH1AA
NOMESCO Finland
Ankle X-ray examination without contrast
6.6
6.7
17
31
ZXD10
NOMESCO Finland
Scheduled procedure
3.3
6.7
42
195
KC1EE
NOMESCO Finland
Ultrasound measurement of residual urine
7.0
6.7
16
27
WYA30
NOMESCO Finland
Treatment of a patient needing special arrangements
6.0
6.7
18
36
SDE02
NOMESCO Finland
Periodontal treatment by dental hygienist
3.4
6.6
33
133
A06AC01
ATC
ispaghula (psylla seeds); oral
3.5
6.6
29
108
N30.0
ICD-10 Finland
Acute cystitis
3.8
6.5
24
79
SPAT1156
SPAT
Guidance concerning treatment of rash and skin
4.7
6.5
17
43
G91.1
ICD-10 Finland
Obstructive hydrocephalus
75.2
6.5
7
*
Q66.0
ICD-10 Finland
Talipes equinovarus
75.2
6.5
7
*
L97
ICD-10 Finland
Ulcer of lower limb, not elsewhere classified
12.4
6.5
11
10
S18
ICPC
Laceration/cut
3.1
6.3
43
208
G91.0
ICD-10 Finland
Communicating hydrocephalus
+∞
6.3
6
*
AA7AA
NOMESCO Finland
Liquor cerebri shunt X-ray examinatin without contrast
+∞
6.3
6
*
N31.1
ICD-10 Finland
Reflex neuropathic bladder, not elsewhere classified
+∞
6.3
6
*
K59.09
ICD-10 Finland
Constipation, unspecified
9.7
6.3
12
14
SPAT1148
SPAT
Treatment of chronic ulcer or burn
4.7
6.2
16
40
U07
ICPC
Urine symptom/complaint other
7.4
6.2
14
22
T81.4
ICD-10 Finland
Infection following a procedure, not elsewhere classified
4.5
6.2
17
45
NE1AA
NOMESCO Finland
Pelvis X-ray examination
9.1
6.1
12
15
Z46.8
ICD-10 Finland
Fitting and adjustment of other specified devices
16.5
6.0
9
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
34
89
5.66
13.21
4.9
3.1
1.64
0.89
e6/l
0.85
23
52
52
213
4.65
11.29
6.5
3.2
—
—
—
0
0
38
125
4.66
10.96
4.0
2.3
5.05
11.29
e6/l
0.51
31
115
44
165
4.41
10.62
5.8
2.9
0.12
0.47
e6/l
1.48
36
125
29
87
4.52
9.22
5.6
3.4
2.86
3.43
e6/l
0.11
20
50
56
331
2.98
5.53
11.3
4.5
0.10
0.00
estimate
—
10
66
56
333
2.95
5.43
9.2
3.3
0.00
0.00
estimate
-0.00
11
60
18
55
3.87
5.38
3.6
11.4
105.28
103.62
mmol/l
0.61
18
55
55
327
2.89
5.29
9.3
3.3
0.00
0.00
estimate
-0.00
11
65
39
208
2.60
4.44
2.5
1.7
93.61
96.22
pmol/l
0.16
21
111
61
416
2.60
3.97
5.7
9.9
4.65
4.00
e9/l
1.14
55
370
47
289
2.38
3.79
7.7
8.0
1.21
1.22
mmol/l
0.31
38
245
11
25
4.88
3.77
1.5
1.4
—
—
—
0
0
36
202
2.35
3.52
2.8
2.9
2.34
2.35
mmol/l
0.06
31
186
29
148
2.45
3.49
1.4
2.4
0.66
0.84
mg/l
0.45
24
111
21
97
2.54
3.08
2.3
2.1
—
—
—
0
0
6
9
7.06
2.91
2.2
2.0
—
—
—
0
0
47
313
2.11
2.87
5.2
6.1
8.59
11.92
umol/l
1.50
41
301
38
237
2.08
2.73
21.8
9.5
1.60
1.09
inr
—
10
79
27
150
2.17
2.60
3.4
2.0
—
—
—
0
0
15
64
2.63
2.56
2.6
2.0
—
—
—
0
0
7
17
4.38
2.41
1.4
1.1
—
—
—
0
0
15
66
2.54
2.41
2.0
1.8
—
—
—
0
0
30
183
1.98
2.22
10.2
3.4
0.00
0.00
estimate
—
10
64
39
266
1.85
2.04
9.9
3.1
—
—
—
0
0
45
332
1.75
1.74
3.3
2.3
—
—
—
0
0
10
41
2.62
1.71
2.2
1.5
—
—
—
0
0
8
32
2.65
1.64
7.0
6.1
24.90
24.25
mmol/l
—
8
32
0
45
0.00
1.55
0.0
1.4
—
287.57
—
0
23
6
21
2.99
1.53
1.3
7.1
134.50
164.81
%
—
6
21
81
736
2.73
1.52
22.3
11.8
66.69
70.71
umol/l
0.21
81
736
21
131
1.80
1.40
3.1
3.7
3.37
10.32
mg/mmol
1.15
14
79
10
47
2.28
1.40
5.3
3.1
—
—
—
0
0
8
35
2.41
1.31
1.9
1.2
—
—
—
0
0
11
58
2.03
1.18
9.0
7.1
—
—
—
0
0
9
46
2.07
1.08
10.2
10.2
25.43
25.39
mmol/l
—
9
46
70
621
1.68
1.05
18.1
9.6
103.93
92.83
ml/min/173m2
2.70
60
480
78
717
1.94
1.05
27.4
11.6
26.68
18.64
mg/l
1.48
67
528
6
29
2.15
0.91
1.3
5.6
105.50
94.76
%
—
6
29
6
30
2.07
0.89
12.5
11.3
0.73
0.78
%
—
6
30
6
31
2.00
0.86
12.5
11.0
1.40
1.65
%
—
6
31
6
108
0.52
0.79
2.2
1.9
—
—
—
0
0
27
207
1.44
0.77
1.1
1.4
0.59
1.50
u/ml
—
7
52
5
26
1.98
0.72
1.6
2.3
—
—
—
0
0
5
27
1.90
0.69
1.6
2.4
—
—
—
0
0
18
130
1.49
0.68
1.1
1.3
3.67
3.71
u/ml
—
7
49
5
29
1.77
0.65
1.6
1.3
—
—
—
0
0
69
634
1.45
0.63
25.4
14.2
13.82
14.00
%
0.18
69
625
17
132
1.36
0.44
1.2
1.3
19.77
30.33
iu/ml
—
7
44
0
16
0.00
0.41
0.0
1.4
—
—
—
0
0
0
17
0.00
0.41
0.0
1.1
—
3.64
—
0
8
5
35
1.45
0.40
1.0
1.4
0.29
0.22
g/l
—
5
35
14
176
0.76
0.36
1.6
1.9
—
—
—
0
0
25
221
1.19
0.24
4.8
3.1
11.31
20.68
ng/l
2.15
16
117
0
10
0.00
0.21
0.0
1.1
—
111.54
—
0
10
0
10
0.00
0.21
0.0
1.3
—
—
—
0
0
0
13
0.00
0.21
0.0
1.2
—
—
—
0
0
0
14
0.00
0.20
0.0
1.1
—
—
—
0
0
60
626
0.86
0.20
4.4
3.5
5.65
5.68
mmol/l
0.08
54
581
17
190
0.87
0.14
1.7
2.1
—
—
—
0
0
59
604
0.93
0.07
2.8
3.8
—
—
—
0
0
16
167
0.95
0.01
1.4
1.5
—
—
—
0
0
19
196
0.96
0.00
1.6
1.7
—
—
—
0
0
0
6
0.00
0.00
0.0
3.7
—
17.83
—
0
6
0
8
0.00
0.00
0.0
1.3
—
—
—
0
0
0
8
0.00
0.00
0.0
1.9
—
—
—
0
0
0
6
0.00
0.00
0.0
1.2
—
1809.17
—
0
6
0
6
0.00
0.00
0.0
1.5
—
—
—
0
0
0
6
0.00
0.00
0.0
1.0
—
19.82
—
0
6
0
8
0.00
0.00
0.0
1.9
—
—
—
0
0
0
6
0.00
0.00
0.0
2.0
—
4.68
—
0
6
0
8
0.00
0.00
0.0
1.9
—
—
—
0
0
0
8
0.00
0.00
0.0
3.5
—
17.12
—
0
8
0
6
0.00
0.00
0.0
3.8
—
—
—
0
0
0
8
0.00
0.00
0.0
1.0
—
—
—
0
0
0
6
0.00
0.00
0.0
6.3
—
—
—
0
0
5
50
1.00
0.00
2.4
1.5
—
—
—
0
0
0
8
0.00
0.00
0.0
3.6
—
—
—
0
0
0
6
0.00
0.00
0.0
1.0
—
—
—
0
0
0
8
0.00
0.00
0.0
1.0
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.4
—
—
—
0
0
0
9
0.00
-0.00
0.0
1.2
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.2
—
40.40
—
0
5
0
5
0.00
-0.00
0.0
1.2
—
—
—
0
0
0
9
0.00
-0.00
0.0
1.2
—
—
—
0
0
0
5
0.00
-0.00
0.0
3.2
—
8.52
—
0
5
0
7
0.00
-0.00
0.0
1.3
—
—
—
0
0
0
7
0.00
-0.00
0.0
1.6
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.4
—
—
—
0
0
0
9
0.00
-0.00
0.0
1.2
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.6
—
—
—
0
0
0
9
0.00
-0.00
0.0
1.2
—
—
—
0
0
0
9
0.00
-0.00
0.0
1.2
—
—
—
0
0
0
7
0.00
-0.00
0.0
1.0
—
84.71
—
0
7
0
5
0.00
-0.00
0.0
1.6
—
—
—
0
0
0
9
0.00
-0.00
0.0
1.2
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.4
—
—
—
0
0
0
9
0.00
-0.00
0.0
1.0
—
—
—
0
0
81
806
1.09
-0.00
32.0
17.1
133.60
136.26
g/l
0.87
81
798
Mortality – FinRegistry
↥Association
Association between endpoint Q17_SPINA_BIFIDA and mortality.
Females
No dataMales
No dataMortality risk
Mortality risk for people of age
years, who have Q17_SPINA_BIFIDA.| 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_SPINA_BIFIDA – Spina bifida
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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