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 |
520210 |
1. Apply sex-specific ruleNone |
520210 |
2. Check conditionsNone |
520210 |
3. Check pre-conditions, main-only, mode, registry filtersRegistry filters: 2 out of 7 registries used, show all original rules. |
85 |
4. Check minimum number of eventsNone |
85 |
5. Include endpointsNone |
85 |
6. Filter based on genotype QC (FinnGen only) |
85 |
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
- Any operation in hilmo
- Any event in hilmo or specialist outpatient
- Any prescribed medicine buy
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 | 85 | 56 | 29 |
| Unadjusted period prevalence (%) | 0.02 | 0.02 | 0.01 |
| Median age at first event (years) | 28.52 | 25.92 | 33.54 |
-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
- 75
- Matched controls
- 751
Code
Vocabulary
Description
Odds Ratio
-log10(p)
N matched cases
N matched controls
Q05.2
ICD-10 Finland
Lumbar spina bifida with hydrocephalus
+∞
39.0
34
*
Q05.7
ICD-10 Finland
Lumbar spina bifida without hydrocephalus
+∞
30.2
27
*
Q05.9
ICD-10 Finland
Spina bifida, unspecified
+∞
27.8
25
*
7410D
ICD-9 Finland
Spina bifida, With hydrocephalus[SPINA BIFIDA APERTA CUM HYDROCEPHALO REG LUMBALIS]
+∞
25.4
23
*
XKC03
NOMESCO Finland
Water cystometry
45.9
24.1
29
10
204
Kela drug reimbursment
Leukemia lymphatica
45.6
20.9
25
8
G04AC01
ATC
NA
35.1
20.4
26
11
G04BD04
ATC
oxybutynin; oral, transdermal
36.5
19.8
25
10
J01XE01
ATC
nitrofurantoin; oral
47.5
17.8
21
6
UKC02
NOMESCO Finland
Cystoscopy
13.4
16.7
31
37
J01EA01
ATC
trimethoprim; systemic
8.4
16.1
46
118
L89
ICD-10 Finland
Decubitus ulcer and pressure area
66.5
14.4
16
*
N31.0
ICD-10 Finland
Uninhibited neuropathic bladder, not elsewhere classified
66.5
14.4
16
*
G95.8
ICD-10 Finland
Other specified diseases of spinal cord
+∞
14.0
13
*
Q05.0
ICD-10 Finland
Cervical spina bifida with hydrocephalus
+∞
14.0
13
*
KH1AE
NOMESCO Finland
Urinary tract ultrasound examination
16.7
13.7
22
18
N31.9
ICD-10 Finland
Neuromuscular dysfunction of bladder, unspecified
61.3
13.4
15
*
N10
ICD-10 Finland
Acute tubulo-interstitial nephritis
11.1
13.1
26
34
Q05.8
ICD-10 Finland
Sacral spina bifida without hydrocephalus
+∞
12.9
12
*
7419D
ICD-9 Finland
Spina bifida, Without mention of hydrocephalus[SPINA BIFIDA APERTA SINE HYDROCEPHALO REG LUMBALIS]
+∞
12.9
12
*
XKD06
NOMESCO Finland
Physiologic investigation of micturition
26.8
12.7
17
8
R15
ICD-10 Finland
Faecal incontinence
51.5
11.3
13
*
1530
FHL
Urethrocystoscopy
51.5
11.3
13
*
74190
ICD-8 Finland
Spina bifida, Hydrocephalo non indicato, cute tecta
+∞
10.7
10
*
QDB10
NOMESCO Finland
Major dressing of wound of skin of lower limb
20.3
10.4
15
9
KA1AE
NOMESCO Finland
Kidney ultrasound examination
24.1
10.2
14
7
A46
ICD-10 Finland
Erysipelas
11.1
10.0
19
22
AAF20
NOMESCO Finland
Revision of shunt of ventricle of brain
113.5
9.6
10
*
M41.4
ICD-10 Finland
Neuromuscular scoliosis
+∞
9.6
9
*
Q05.3
ICD-10 Finland
Sacral spina bifida with hydrocephalus
+∞
9.6
9
*
XKD00
NOMESCO Finland
Uroflowmetry
9.8
9.4
19
25
G04BD07
ATC
tolterodine; oral
13.0
8.8
15
14
J01MA12
ATC
levofloxacin; systemic
6.3
8.5
24
52
Q06.8
ICD-10 Finland
Other specified congenital malformations of spinal cord
+∞
8.5
8
*
74199
ICD-8 Finland
Spina bifida, Without mention of hydrocephalus
+∞
8.5
8
*
74101
ICD-8 Finland
Spina bifida, Cum hydrocephalo, non cute tecta
+∞
8.5
8
*
KDV20
NOMESCO Finland
Submucous urethral injection
+∞
8.5
8
*
J01MA02
ATC
ciprofloxacin; systemic
4.1
7.7
40
162
NH1AA
NOMESCO Finland
Ankle X-ray examination without contrast
10.4
7.4
14
16
74191
ICD-8 Finland
Spina bifida, Hydrocephalo non indicato, non ente tecta
+∞
7.4
7
*
Q66.0
ICD-10 Finland
Talipes equinovarus
+∞
7.4
7
*
R5110
NOMESCO Finland
Evaluation of the need for aids, the testing, fitting and choice of the aid, instruction in use and delivery of it
7.0
7.3
18
32
WYA30
NOMESCO Finland
Preparations for expected poor cooperation
7.2
7.1
17
29
S97
ICPC
Chronic ulcer skin
12.7
7.1
12
11
NE1AA
NOMESCO Finland
Pelvis X-ray examination
12.7
7.1
12
11
L97
ICD-10 Finland
Ulcer of lower limb, not elsewhere classified
25.1
6.8
9
*
N39.4
ICD-10 Finland
Other specified urinary incontinence
7.8
6.7
15
23
N39.0
ICD-10 Finland
Urinary tract infection, site not specified
5.3
6.7
21
51
R4120
NOMESCO Finland
Occupational therapy
8.3
6.6
14
20
JN3AA
NOMESCO Finland
Abdominal X-ray examination without contrast
12.6
6.5
11
10
SPAT1262
SPAT
Handing over of treatment supplies
5.5
6.4
19
43
R33
ICD-10 Finland
Retention of urine
9.0
6.4
13
17
L17
ICPC
Foot/toe symptom/complaint
4.2
6.4
27
89
N32.82
ICD-10 Finland
Instability of the detrusor vesicae muscle
29.3
6.4
8
*
9165
FHL
Removal of osteosynthesis material
29.3
6.4
8
*
N31.8
ICD-10 Finland
Other neuromuscular dysfunction of bladder
+∞
6.3
6
*
74100
ICD-8 Finland
Spina bifida, Cum hydrocephalo, cute tecta
+∞
6.3
6
*
N31.1
ICD-10 Finland
Reflex neuropathic bladder, not elsewhere classified
+∞
6.3
6
*
A06AC01
ATC
ispaghula (psylla seeds); oral
4.4
6.3
24
72
G04BD08
ATC
solifenacin; oral
9.3
6.1
12
15
SPAT1229
SPAT
Assessment of need for aid
9.3
6.1
12
15
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
33
90
5.36
12.14
4.9
3.1
1.72
0.89
e6/l
0.93
22
52
51
212
4.51
10.76
6.6
3.2
—
—
—
0
0
37
123
4.56
10.48
4.1
2.2
4.91
11.64
e6/l
0.53
30
110
43
165
4.25
9.96
5.8
2.8
0.12
0.47
e6/l
1.45
35
124
28
88
4.25
8.31
5.6
3.4
3.02
3.43
e6/l
0.08
19
50
56
325
3.12
5.87
11.3
4.5
0.10
0.00
estimate
—
10
65
56
327
3.09
5.77
9.2
3.2
0.00
0.00
estimate
0.00
11
59
55
320
3.04
5.66
9.3
3.2
0.00
0.00
estimate
0.00
11
61
38
203
2.58
4.30
2.4
1.8
95.87
95.97
pmol/l
0.00
21
107
61
412
2.70
4.17
5.8
10.0
4.64
4.03
e9/l
1.05
55
365
10
25
4.40
3.82
1.6
1.4
—
—
—
0
0
46
282
2.38
3.73
7.7
8.0
1.21
1.22
mmol/l
0.28
38
237
7
10
7.51
3.43
2.1
1.9
—
—
—
0
0
35
197
2.32
3.38
2.8
2.9
2.35
2.35
mmol/l
0.02
30
180
21
96
2.58
3.16
2.3
2.1
—
—
—
0
0
28
152
2.26
2.88
3.3
2.0
—
—
—
0
0
7
14
5.34
2.79
1.4
1.1
—
—
—
0
0
15
62
2.72
2.72
2.5
2.0
—
—
—
0
0
46
310
2.05
2.68
5.3
6.1
8.43
11.96
umol/l
1.61
40
298
15
64
2.63
2.56
1.9
1.8
—
—
—
0
0
40
262
1.99
2.47
9.7
3.0
—
—
—
0
0
30
177
2.07
2.47
10.2
3.3
0.00
0.00
estimate
—
10
63
10
39
2.77
2.00
2.2
1.4
—
—
—
0
0
45
331
1.76
1.78
4.6
3.8
—
—
—
0
0
10
43
2.50
1.67
25.5
5.3
5.25
5.05
kpa
—
10
38
8
33
2.57
1.58
7.0
5.9
24.90
24.26
mmol/l
—
8
33
0
42
0.00
1.57
0.0
1.5
—
293.92
—
0
22
6
21
2.99
1.53
1.3
7.1
134.50
164.81
%
—
6
21
80
729
2.65
1.52
22.1
11.7
67.01
70.87
umol/l
0.20
80
729
8
34
2.49
1.33
1.9
1.2
—
—
—
0
0
9
44
2.17
1.31
10.2
10.6
25.43
25.49
mmol/l
—
9
44
11
56
2.11
1.29
9.0
6.8
—
—
—
0
0
20
127
1.75
1.26
3.3
3.9
3.37
10.19
mg/mmol
1.04
14
74
9
47
2.02
1.06
5.6
2.7
—
—
—
0
0
77
708
1.93
1.05
27.4
11.5
27.39
19.14
mg/l
1.51
66
522
69
614
1.66
1.00
17.8
9.5
104.48
93.38
ml/min/173m2
2.62
58
475
6
29
2.15
0.91
1.3
5.6
105.50
94.76
%
—
6
29
6
29
2.15
0.91
12.5
10.9
0.73
0.78
%
—
6
29
6
30
2.07
0.89
12.5
10.6
1.40
1.63
%
—
6
30
6
108
0.52
0.79
2.2
1.9
—
—
—
0
0
68
619
1.49
0.71
24.9
14.0
13.48
13.41
%
0.17
68
609
18
129
1.50
0.71
1.1
1.3
3.67
3.75
u/ml
—
7
48
26
201
1.42
0.71
1.1
1.4
0.59
1.53
u/ml
—
7
50
5
27
1.90
0.69
1.6
2.3
—
—
—
0
0
5
28
1.83
0.67
1.6
2.4
—
—
—
0
0
17
133
1.35
0.43
1.2
1.3
19.77
31.59
iu/ml
—
7
45
5
34
1.50
0.41
1.0
1.4
0.29
0.22
g/l
—
5
34
0
17
0.00
0.41
0.0
1.4
—
—
—
0
0
0
17
0.00
0.41
0.0
1.1
—
3.64
—
0
8
14
176
0.76
0.36
1.6
1.9
—
—
—
0
0
25
216
1.22
0.30
4.8
3.0
11.18
18.71
ng/l
2.02
17
114
59
619
0.85
0.23
4.2
3.5
5.66
5.66
mmol/l
0.01
53
574
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
1.4
—
7.83
—
0
6
0
14
0.00
0.20
0.0
1.1
—
—
—
0
0
68
700
0.86
0.16
20.5
11.6
37.58
40.76
%
1.38
48
582
17
191
0.86
0.15
1.7
2.1
—
—
—
0
0
15
163
0.90
0.07
1.3
1.5
—
—
—
0
0
59
598
0.96
0.02
2.8
3.8
—
—
—
0
0
20
197
1.02
0.00
1.6
1.7
—
—
—
0
0
5
50
1.00
0.00
2.4
1.5
—
—
—
0
0
0
6
0.00
0.00
0.0
7.0
—
—
—
0
0
0
6
0.00
0.00
0.0
2.0
—
4.68
—
0
6
0
7
0.00
0.00
0.0
1.0
—
—
—
0
0
0
7
0.00
0.00
0.0
1.6
—
—
—
0
0
0
5
0.00
0.00
0.0
1.6
—
—
—
0
0
0
5
0.00
0.00
0.0
3.2
—
8.52
—
0
5
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
9
0.00
0.00
0.0
1.2
—
—
—
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
80
799
1.02
0.00
31.9
17.0
133.76
136.61
g/l
0.94
80
791
0
5
0.00
0.00
0.0
1.6
—
—
—
0
0
0
7
0.00
0.00
0.0
1.0
—
84.71
—
0
7
0
8
0.00
0.00
0.0
1.9
—
—
—
0
0
0
9
0.00
0.00
0.0
1.2
—
—
—
0
0
0
8
0.00
0.00
0.0
1.3
—
—
—
0
0
0
5
0.00
0.00
0.0
1.2
—
—
—
0
0
0
8
0.00
0.00
0.0
1.9
—
—
—
0
0
0
6
0.00
0.00
0.0
1.5
—
—
—
0
0
0
7
0.00
0.00
0.0
1.6
—
—
—
0
0
0
5
0.00
0.00
0.0
1.2
—
40.40
—
0
5
0
8
0.00
0.00
0.0
1.9
—
—
—
0
0
0
5
0.00
0.00
0.0
1.4
—
—
—
0
0
0
5
0.00
0.00
0.0
1.6
—
—
—
0
0
0
6
0.00
0.00
0.0
1.0
—
19.82
—
0
6
0
6
0.00
0.00
0.0
3.8
—
—
—
0
0
0
8
0.00
0.00
0.0
3.5
—
17.13
—
0
8
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
5
0.00
0.00
0.0
1.6
—
—
—
0
0
0
5
0.00
0.00
0.0
1.0
—
—
—
0
0
0
5
0.00
0.00
0.0
1.4
—
1142.00
—
0
5
0
9
0.00
0.00
0.0
1.2
—
—
—
0
0
0
6
0.00
0.00
0.0
1.2
—
1809.17
—
0
6
0
8
0.00
0.00
0.0
1.0
—
—
—
0
0
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
Loading data