Spina bifida

Q17_SPINA_BIFIDA

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.

Suggest a new description

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 Q05
  • Cause of death: ICD-10 Q05

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

85

4. Check minimum number of events

None

85

5. Include endpoints

None

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

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 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
7419D
ICD-9 Finland
Spina bifida, Without mention of hydrocephalus[SPINA BIFIDA APERTA SINE HYDROCEPHALO REG LUMBALIS]
+∞
12.9
12
*
Q05.8
ICD-10 Finland
Sacral spina bifida without hydrocephalus
+∞
12.9
12
*
XKD06
NOMESCO Finland
Physiologic investigation of micturition
26.8
12.7
17
8
1530
FHL
Urethrocystoscopy
51.5
11.3
13
*
R15
ICD-10 Finland
Faecal incontinence
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
*
74101
ICD-8 Finland
Spina bifida, Cum hydrocephalo, non cute 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
*
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
NE1AA
NOMESCO Finland
Pelvis X-ray examination
12.7
7.1
12
11
S97
ICPC
Chronic ulcer skin
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
*
N31.1
ICD-10 Finland
Reflex neuropathic bladder, not elsewhere classified
+∞
6.3
6
*
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
*
A06AC01
ATC
ispaghula (psylla seeds); oral
4.4
6.3
24
72
SPAT1229
SPAT
Assessment of need for aid
9.3
6.1
12
15
G04BD08
ATC
solifenacin; oral
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
unit
cases
controls
-log10(p)
N cases
N controls
(3026008) Bacteria identified in Urine by Culture
53
176
6.34
16.28
7.4
2.6
—
—
—
0
0
(3030306) Epithelial cells.non-squamous [#/volume] in Urine by Automated count
33
90
5.36
12.14
4.9
3.1
e6/l
1.7
0.9
0.93
22
52
(3029287) Urinalysis microscopic panel [#/volume] - Urine by Automated count
51
212
4.51
10.76
6.6
3.2
—
—
—
0
0
(3000850) Epithelial cells [#/volume] in Urine
37
123
4.56
10.48
4.1
2.2
e6/l
4.9
11.6
0.53
30
110
(3030467) Casts [#/volume] in Urine by Automated count
43
165
4.25
9.96
5.8
2.8
e6/l
0.1
0.5
1.45
35
124
(3007853) Bacteria identified in Skin by Aerobe culture
28
79
4.79
9.67
4.8
1.3
—
—
—
0
0
(3026782) Osmolality of Urine
33
113
4.14
8.77
3.7
2.5
mosm/kgh2o
596.8
529.9
0.60
28
99
(3029879) Epithelial cells.squamous [#/volume] in Urine by Automated count
28
88
4.25
8.31
5.6
3.4
e6/l
3.0
3.4
0.08
19
50
(36304419) Bacteria [Presence] in Urine
41
171
3.70
8.09
6.1
2.7
—
—
—
0
0
(3018095) Leukocytes [#/volume] in Urine
48
225
3.60
7.86
7.9
3.7
e6/l
217.1
53.0
0.58
37
158
(3002582) Erythrocytes [#/volume] in Urine
43
188
3.61
7.85
7.0
2.9
e6/l
21.2
47.0
0.79
35
148
(3023368) Bacteria identified in Blood by Culture
36
142
3.66
7.66
7.8
4.2
—
—
—
0
0
(3011397) Hemoglobin [Presence] in Urine by Test strip
35
142
3.49
7.05
7.5
3.6
—
—
—
0
0
(3015736) pH of Urine
50
260
3.24
6.59
7.0
3.1
—
—
—
0
0
(3021601) Nitrite [Presence] in Urine by Test strip
56
325
3.12
5.87
11.3
4.5
estimate
0.1
0.0
—
10
65
(3009261) Glucose [Presence] in Urine by Test strip
56
327
3.09
5.77
9.2
3.2
estimate
0.0
0.0
0.00
11
59
(3035350) Ketones [Presence] in Urine by Test strip
55
320
3.04
5.66
9.3
3.2
estimate
0.0
0.0
0.00
11
61
(3042936) Bacteria identified in Isolate by Culture
23
87
3.25
4.99
4.4
1.7
—
—
—
0
0
(3037467) Urinalysis macro (dipstick) panel - Urine
66
456
3.00
4.45
8.9
4.2
—
—
—
0
0
(3044640) Blood type and Crossmatch panel - Blood
38
203
2.58
4.30
3.2
2.0
—
—
—
0
0
(43054903) Holo-transcobalamin II [Moles/volume] in Serum
38
203
2.58
4.30
2.4
1.8
pmol/l
95.9
96.0
0.00
21
107
(3000991) Gas panel - Venous blood
16
53
3.49
4.23
6.6
9.6
—
—
—
0
0
(3013650) Neutrophils [#/volume] in Blood by Automated count
61
412
2.70
4.17
5.8
10.0
e9/l
4.6
4.0
1.05
55
365
(3016018) Differential panel - Cerebral spinal fluid
6
5
12.76
3.82
3.2
4.6
—
—
—
0
0
(36031861) Influenza virus A and B and SARS-CoV-2 (COVID-19) and Respiratory syncytial virus RNA panel - Respiratory system specimen by NAA with probe detection
10
25
4.40
3.82
1.6
1.4
—
—
—
0
0
(3016431) Calcium.ionized [Moles/volume] adjusted to pH 7.4 in Serum or Plasma
46
282
2.38
3.73
7.7
8.0
mmol/l
1.2
1.2
0.28
38
237
(40769539) Bacteria identified based on 16S rRNA gene [Identifier] in Specimen by Sequencing
7
10
7.51
3.43
2.1
1.9
—
—
—
0
0
(3015377) Calcium [Moles/volume] in Serum or Plasma
35
197
2.32
3.38
2.8
2.9
mmol/l
2.3
2.3
0.02
30
180
(3044938) Influenza virus A RNA [Presence] in Specimen by NAA with probe detection
21
96
2.58
3.16
2.3
2.1
—
—
—
0
0
(42870588) Differential panel, method unspecified - Blood
37
221
2.19
3.05
4.9
6.9
—
—
—
0
0
(3022621) pH of Urine by Test strip
12
42
3.16
2.88
4.7
1.6
—
—
—
0
0
(46236098) ABO and Rh group [Type] in Blood by Confirmatory method
28
152
2.26
2.88
3.3
2.0
—
—
—
0
0
(3008909) Norovirus RNA [Presence] in Stool by NAA with probe detection
7
14
5.34
2.79
1.4
1.1
—
—
—
0
0
(3038288) Influenza virus B RNA [Presence] in Specimen by NAA with probe detection
15
62
2.72
2.72
2.5
2.0
—
—
—
0
0
(3006140) Bilirubin.total [Moles/volume] in Serum or Plasma
46
310
2.05
2.68
5.3
6.1
umol/l
8.4
12.0
1.61
40
298
(3001604) Monocytes [#/volume] in Blood
51
357
2.07
2.68
5.0
6.3
e9/l
0.5
0.5
0.06
43
317
(3049717) Cytology report of Urine Cyto stain
7
15
4.98
2.65
1.9
2.1
—
—
—
0
0
(3006315) Basophils [#/volume] in Blood
51
359
2.05
2.62
5.0
6.2
e9/l
0.0
0.0
0.15
43
319
(3000330) Specific gravity of Urine by Test strip
9
26
3.74
2.56
4.6
3.1
—
—
—
0
0
(3043924) Respiratory syncytial virus RNA [Identifier] in Specimen by NAA with probe detection
15
64
2.63
2.56
1.9
1.8
—
—
—
0
0
(40763086) Leukocyte esterase [Presence] in Urine by Automated test strip
40
262
1.99
2.47
9.7
3.0
—
—
—
0
0
(3029937) Albumin [Presence] in Urine by Test strip
30
177
2.07
2.47
10.2
3.3
estimate
0.0
0.0
—
10
63
(40758558) Short blood count panel - Blood
29
169
2.09
2.46
3.5
7.1
—
—
—
0
0
(3044290) Cell count panel - Cerebral spinal fluid
6
12
5.29
2.44
3.3
3.3
—
—
—
0
0
(40761535) Cells panel - Urine sediment
12
47
2.81
2.39
5.5
3.4
—
—
—
0
0
(3045414) Leukocytes [Presence] in Urine
8
24
3.57
2.24
3.0
1.5
—
—
—
0
0
(3019198) Lymphocytes [#/volume] in Blood
51
372
1.93
2.23
5.1
6.3
e9/l
1.8
2.1
0.93
44
336
(3028707) Methadone [Presence] in Urine by Screen method
8
25
3.42
2.15
1.4
2.1
—
—
—
0
0
(3013115) Eosinophils [#/volume] in Blood
51
376
1.89
2.12
5.1
6.5
e9/l
0.2
0.2
0.31
44
338
(3024928) Oxygen saturation in Venous blood
5
10
5.23
2.10
1.8
8.5
—
—
—
0
0
(3051552) Clostridioides difficile toxin genes [Presence] in Stool by NAA with probe detection
10
39
2.77
2.00
2.2
1.4
—
—
—
0
0
(3032080) INR in Blood by Coagulation assay
31
200
1.87
1.91
14.4
5.0
inr
1.7
1.1
—
9
68
(4034850)
5
12
4.35
1.85
18.4
6.9
—
—
—
0
0
(3001079) Blood group antibody screen [Presence] in Serum or Plasma
45
331
1.76
1.78
4.6
3.8
—
—
—
0
0
(3014051) Protein [Presence] in Urine by Test strip
5
13
4.01
1.74
1.8
1.8
—
—
—
0
0
(3023024) Carbon dioxide [Partial pressure] in Capillary blood
10
43
2.50
1.67
25.5
5.3
kpa
5.3
5.1
—
10
38
(4010399)
7
26
2.84
1.62
1.4
1.3
—
—
—
0
0
(3004490) Bicarbonate [Moles/volume] standard in Capillary blood
8
33
2.57
1.58
7.0
5.9
mmol/l
24.9
24.3
—
8
33
(3023421) Hepatitis B virus surface Ab [Units/volume] in Serum
0
42
0.00
1.57
0.0
1.5
—
293.9
—
0
22
(3019250) Coagulation factor VIII activity actual/normal in Platelet poor plasma by Coagulation assay
6
21
2.99
1.53
1.3
7.1
%
134.5
164.8
—
6
21
(3020564) Creatinine [Moles/volume] in Serum or Plasma
80
729
2.65
1.52
22.1
11.7
umol/l
67.0
70.9
0.20
80
729
(3020891) Body temperature
6
22
2.85
1.46
3.5
4.9
—
—
—
0
0
(3022145) Colonoscopy Study observation
12
61
2.13
1.41
1.0
1.4
—
—
—
0
0
(3021589) Normoblasts [#/volume] in Blood
41
310
1.62
1.36
13.9
9.4
e9/l
0.0
0.0
0.50
34
251
(3018418) pH of Serum or Plasma
25
166
1.72
1.36
7.6
4.0
ph
7.4
7.4
—
5
30
(3016879) Cocaine [Presence] in Urine
11
55
2.15
1.34
1.3
1.6
—
—
—
0
0
(586526) SARS-CoV-2 (COVID-19) RNA [Presence] in Nasopharynx by NAA with probe detection
8
34
2.49
1.33
1.9
1.2
—
—
—
0
0
(3016293) Bicarbonate [Moles/volume] in Serum or Plasma
9
44
2.17
1.31
10.2
10.6
mmol/l
25.4
25.5
—
9
44
(3045783) Sodium and Potassium panel [Moles/volume] - Serum or Plasma
11
56
2.11
1.29
9.0
6.8
—
—
—
0
0
(3022313) Gas panel - Capillary blood
8
36
2.35
1.28
7.1
5.7
—
—
—
0
0
(3011288) Drugs identified in Urine by Screen method
8
36
2.35
1.28
1.1
1.9
—
—
—
0
0
(3020682) Albumin/Creatinine [Ratio] in Urine
20
127
1.75
1.26
3.3
3.9
mg/mmol
3.4
10.2
1.04
14
74
(3002030) Lymphocytes/100 leukocytes in Blood
45
354
1.58
1.23
5.4
6.3
%
25.1
29.3
1.99
40
338
(3044889) 12 lead EKG panel
52
424
1.58
1.21
3.8
3.0
—
—
—
0
0
(3019060) Gas panel - Arterial blood
6
26
2.40
1.21
4.2
3.7
—
—
—
0
0
(3028300) Cannabinoids [Presence] in Urine
11
58
2.03
1.18
1.3
1.6
—
—
—
0
0
(3000764) Benzodiazepines [Presence] in Urine
11
58
2.03
1.18
1.3
1.6
—
—
—
0
0
(3027008) Opiates [Presence] in Urine
11
58
2.03
1.18
1.3
1.6
—
—
—
0
0
(3000494) Fungus identified in Specimen by Culture
14
81
1.87
1.17
1.4
1.2
—
—
—
0
0
(3007164) IgA [Mass/volume] in Serum or Plasma
27
190
1.62
1.17
1.1
1.5
g/l
2.0
2.1
0.14
19
126
(40760892) CBC W Ordered Manual Differential panel - Blood
27
192
1.60
1.12
3.0
4.7
—
—
—
0
0
(3019902) Methicillin resistant Staphylococcus aureus [Presence] in Specimen by Organism specific culture
9
47
2.02
1.06
5.6
2.7
—
—
—
0
0
(3020460) C reactive protein [Mass/volume] in Serum or Plasma
77
708
1.93
1.05
27.4
11.5
mg/l
27.4
19.1
1.51
66
522
(40764999) Glomerular filtration rate/1.73 sq M.predicted [Volume Rate/Area] in Serum, Plasma or Blood by Creatinine-based formula (CKD-EPI)
69
614
1.66
1.00
17.8
9.5
ml/min/173m2
104.5
93.4
2.62
58
475
(36660697) Celiac disease serology panel - Serum
12
71
1.80
0.94
1.0
1.2
—
—
—
0
0
(3000515) Antithrombin actual/normal in Platelet poor plasma by Chromogenic method
6
29
2.15
0.91
1.3
5.6
%
105.5
94.8
—
6
29
(3014007) Fractional oxyhemoglobin in Arterial blood
6
29
2.15
0.91
12.5
11.1
%
95.4
92.9
—
6
29
(3006217) Methemoglobin/Hemoglobin.total in Arterial blood
6
29
2.15
0.91
12.5
10.9
%
0.7
0.8
—
6
29
(1001926) Buprenorphine [Presence] in Urine by Screen method
8
44
1.90
0.89
1.4
1.8
—
—
—
0
0
(3028653) Carboxyhemoglobin/Hemoglobin.total in Arterial blood
6
30
2.07
0.89
12.5
10.6
%
1.4
1.6
—
6
30
(3012516) Albumin [Mass/volume] in Urine
18
123
1.59
0.86
3.1
3.1
mg/l
19.1
634.7
0.58
13
74
(3036489) Thrombin time
6
31
2.00
0.86
1.2
5.0
s
20.3
20.6
—
6
25
(1761868) Lipid panel - Serum or Plasma
19
257
0.66
0.79
3.3
2.3
—
—
—
0
0
(3006093) Chlamydia trachomatis DNA [Presence] in Specimen by NAA with probe detection
6
108
0.52
0.79
2.2
1.9
—
—
—
0
0
(40768804) Tissue Pathology biopsy report
31
245
1.42
0.75
1.9
2.1
—
—
—
0
0
(40761536) Microorganisms panel - Urine sediment
9
58
1.62
0.72
13.7
3.0
—
—
—
0
0
(3027944) Amphetamines [Presence] in Urine
9
58
1.62
0.72
1.3
1.6
—
—
—
0
0
(3002385) Erythrocyte distribution width [Ratio]
68
619
1.49
0.71
24.9
14.0
%
13.5
13.4
0.17
68
609
(3041942) Cyclic citrullinated peptide Ab [Units/volume] in Serum
18
129
1.50
0.71
1.1
1.3
u/ml
3.7
3.7
—
7
48
(3019050) Tissue transglutaminase IgA Ab [Units/volume] in Serum
26
201
1.42
0.71
1.1
1.4
u/ml
0.6
1.5
—
7
50
(3044254) Respiratory syncytial virus RNA [Presence] in Specimen by NAA with probe detection
5
27
1.90
0.69
1.6
2.3
—
—
—
0
0
(3019832) Treponema pallidum Ab [Presence] in Serum
10
151
0.62
0.67
1.1
1.6
—
—
—
0
0
(46235355) HIV 1 and 2 tests - Meaningful Use set
19
250
0.69
0.67
1.5
2.0
—
—
—
0
0
(46235759) Influenza virus B RNA [Presence] in Nasopharynx by NAA with probe detection
5
28
1.83
0.67
1.6
2.4
—
—
—
0
0
(3013512) EKG study
19
141
1.45
0.63
3.7
3.6
—
—
—
0
0
(40761511) CBC panel - Blood by Automated count
78
737
1.71
0.63
20.3
10.4
—
—
—
0
0
(3041096) Erythrocytes [Presence] in Urine by Automated
25
196
1.39
0.62
8.7
2.6
—
—
—
0
0
(3008401) Mugwort IgE Ab [Units/volume] in Serum
0
22
0.00
0.60
0.0
1.0
—
0.2
—
0
9
(3003888) Timothy IgE Ab [Units/volume] in Serum
0
23
0.00
0.59
0.0
1.0
—
3.6
—
0
13
(3020630) Protein [Mass/volume] in Serum or Plasma
6
37
1.67
0.57
1.0
3.4
g/l
69.5
66.2
—
6
32
(3033319) Streptococcus pyogenes Ag [Presence] in Throat
10
137
0.69
0.43
1.7
1.6
—
—
—
0
0
(3021614) Rheumatoid factor [Units/volume] in Serum or Plasma
17
133
1.35
0.43
1.2
1.3
iu/ml
19.8
31.6
—
7
45
(44816844) Macroprolactin [Units/volume] in Serum or Plasma
0
15
0.00
0.41
0.0
1.2
—
—
—
0
0
(3014148) Varicella zoster virus Ab [Titer] in Serum
0
15
0.00
0.41
0.0
1.1
—
—
—
0
0
(3017766) Complement C4 [Mass/volume] in Serum or Plasma
5
34
1.50
0.41
1.0
1.4
g/l
0.3
0.2
—
5
34
(3000924) Streptococcus pyogenes [Presence] in Throat by Organism specific culture
0
17
0.00
0.41
0.0
1.4
—
—
—
0
0
(40766183) Gliadin peptide IgA Ab [Units/volume] in Serum by Immunoassay
0
17
0.00
0.41
0.0
1.1
—
3.6
—
0
8
(3000492) Spirometry study
5
79
0.61
0.37
1.6
1.2
—
—
—
0
0
(3003510) Neisseria gonorrhoeae DNA [Presence] in Urine by NAA with probe detection
14
176
0.76
0.36
1.6
1.9
—
—
—
0
0
(3019284) Hepatitis B virus surface Ag [Presence] in Serum
16
195
0.78
0.33
1.6
1.7
—
—
—
0
0
(21494755) Public health laboratory ask at order entry panel
7
99
0.68
0.33
1.4
1.2
—
—
—
0
0
(3019800) Troponin T.cardiac [Mass/volume] in Serum or Plasma
25
216
1.22
0.30
4.8
3.0
ng/l
11.2
18.7
2.02
17
114
(3017143) Hepatitis C virus Ab [Presence] in Serum
16
134
1.24
0.25
1.5
1.5
—
—
—
0
0
(3018251) Fasting glucose [Moles/volume] in Serum or Plasma
59
619
0.85
0.23
4.2
3.5
mmol/l
5.7
5.7
0.01
53
574
(3021236) Streptolysin O Ab [Units/volume] in Serum or Plasma
0
10
0.00
0.21
0.0
1.1
—
111.5
—
0
10
(3000081) cloZAPine [Moles/volume] in Serum or Plasma
0
10
0.00
0.21
0.0
14.3
—
1561.1
—
0
10
(4094501)
0
10
0.00
0.21
0.0
1.0
—
—
—
0
0
(3025018) Bordetella pertussis Ab [Titer] in Serum
0
10
0.00
0.21
0.0
1.4
—
—
—
0
0
(3003265) Liver kidney microsomal Ab [Titer] in Serum by Immunofluorescence
0
10
0.00
0.21
0.0
1.3
—
—
—
0
0
(3013327) Hepatitis A virus IgM Ab [Presence] in Serum
0
10
0.00
0.21
0.0
1.0
—
—
—
0
0
(3008832) Norclozapine [Moles/volume] in Serum or Plasma
0
10
0.00
0.21
0.0
12.1
—
802.1
—
0
10
(3004915) Chlamydophila pneumoniae IgA Ab [Units/volume] in Serum
0
12
0.00
0.21
0.0
1.2
—
—
—
0
0
(3016650) Hepatitis A virus Ab [Presence] in Serum
0
12
0.00
0.21
0.0
1.1
—
—
—
0
0
(3019225) pH of Specimen
6
47
1.30
0.21
3.5
5.8
—
—
—
0
0
(3042111) Morphology [Interpretation] in Bone marrow Narrative
0
13
0.00
0.21
0.0
1.8
—
—
—
0
0
(3043109) Cytology report of Tissue fine needle aspirate Cyto stain
0
13
0.00
0.21
0.0
1.2
—
—
—
0
0
(3002179) Metamyelocytes/100 leukocytes in Blood
6
49
1.24
0.20
3.3
4.2
—
0.6
—
0
11
(3037756) Immunofixation for Serum or Plasma
0
14
0.00
0.20
0.0
1.5
—
—
—
0
0
(3016701) Glucose [Moles/volume] in Serum or Plasma --2 hours post dose glucose
0
14
0.00
0.20
0.0
1.4
—
7.8
—
0
6
(3012220) Varicella zoster virus IgM Ab [Presence] in Serum by Immunoassay
0
14
0.00
0.20
0.0
1.1
—
—
—
0
0
(3014599) Egg white IgE Ab [Units/volume] in Serum
0
14
0.00
0.20
0.0
1.1
—
0.8
—
0
5
(3020874) Milk IgE Ab [Units/volume] in Serum
0
14
0.00
0.20
0.0
1.1
—
0.2
—
0
5
(3042206) Streptococcus agalactiae Ag [Presence] in Vaginal fluid
0
14
0.00
0.20
0.0
1.1
—
—
—
0
0
(3009542) Hematocrit [Volume Fraction] of Blood
68
700
0.86
0.16
20.5
11.6
%
37.6
40.8
1.38
48
582
(3024950) Chlamydia trachomatis DNA [Presence] in Urine by NAA with probe detection
17
191
0.86
0.15
1.7
2.1
—
—
—
0
0
(3003694) ABO and Rh group [Type] in Blood
26
241
1.11
0.12
1.2
1.5
—
—
—
0
0
(3002256) Pathology report gross observation
6
74
0.80
0.08
1.7
1.3
—
—
—
0
0
(3018006) Microscopic observation [Identifier] in Cervix by Cyto stain.thin prep
15
163
0.90
0.07
1.3
1.5
—
—
—
0
0
(706163) SARS-CoV-2 (COVID-19) RNA [Presence] in Respiratory system specimen by NAA with probe detection
59
598
0.96
0.02
2.8
3.8
—
—
—
0
0
(3024135) Streptococcus.beta-hemolytic [Presence] in Throat by Organism specific culture
20
197
1.02
0.00
1.6
1.7
—
—
—
0
0
(3025159) Blasts/100 leukocytes in Blood
5
53
0.94
0.00
4.4
4.1
—
0.1
—
0
14
(3003191) Choriogonadotropin (pregnancy test) [Presence] in Serum or Plasma
5
50
1.00
0.00
2.4
1.5
—
—
—
0
0
(3026250) Tacrolimus [Mass/volume] in Blood
0
6
0.00
0.00
0.0
29.5
—
5.5
—
0
6
(3024731) MCV [Entitic volume]
80
798
1.04
0.00
31.1
16.9
fl
89.5
89.9
0.34
80
790
(3017817) Protein [Mass] in Urine collected for unspecified duration
0
6
0.00
0.00
0.0
7.0
—
—
—
0
0
(3027953) Aldolase [Enzymatic activity/volume] in Serum or Plasma
0
6
0.00
0.00
0.0
2.0
—
4.7
—
0
6
(3018993) Complement total hemolytic CH100 [Units/volume] in Serum or Plasma
0
7
0.00
0.00
0.0
1.0
—
—
—
0
0
(3048821) Cortisol [Moles/volume] in Serum or Plasma --post 1 mg dexamethasone PO overnight
0
7
0.00
0.00
0.0
1.6
—
—
—
0
0
(3006262) Parainfluenza virus 3 RNA [Presence] in Specimen by NAA with probe detection
0
5
0.00
0.00
0.0
1.6
—
—
—
0
0
(3035947) Staphylolysin Ab [Units/volume] in Serum
0
5
0.00
0.00
0.0
1.0
—
—
—
0
0
(3015183) Erythrocyte sedimentation rate
0
7
0.00
0.00
0.0
1.1
—
—
—
0
0
(3004616) Nuclear Ab [Presence] in Serum
0
8
0.00
0.00
0.0
1.5
—
—
—
0
0
(3016616) Dehydroepiandrosterone sulfate (DHEA-S) [Moles/volume] in Serum or Plasma
0
5
0.00
0.00
0.0
3.2
—
8.5
—
0
5
(3010503) CD19 cells [#/volume] in Blood
0
5
0.00
0.00
0.0
1.6
—
0.3
—
0
5
(3021879) Hepatitis B virus core Ab [Presence] in Serum
7
72
0.97
0.00
1.3
1.5
—
—
—
0
0
(3044242) Glucose [Moles/volume] in Arterial blood
0
5
0.00
0.00
0.0
14.4
—
—
—
0
0
(3002670) Multiple inhalant allergen IgE Ab [Units/volume] in Serum
0
6
0.00
0.00
0.0
2.7
—
—
—
0
0
(3009340) Metanephrine [Moles/volume] in Serum or Plasma
0
8
0.00
0.00
0.0
1.0
—
—
—
0
0
(3010380) Borrelia burgdorferi IgG Ab [Units/volume] in Cerebral spinal fluid
0
5
0.00
0.00
0.0
1.4
—
—
—
0
0
(3014791) Apolipoprotein B [Mass/volume] in Serum or Plasma
0
5
0.00
0.00
0.0
1.4
—
0.7
—
0
5
(40759849) Smith extractable nuclear Ab [Presence] in Serum by Immunoblot
0
9
0.00
0.00
0.0
1.2
—
—
—
0
0
(40759843) Sjogrens syndrome-A extractable nuclear Ab [Presence] in Serum by Immunoblot
0
9
0.00
0.00
0.0
1.2
—
—
—
0
0
(3047189) Immunofixation for 24 hour Urine
0
5
0.00
0.00
0.0
2.0
—
—
—
0
0
(40759812) SCL-70 extractable nuclear Ab [Presence] in Serum by Immunoblot
0
9
0.00
0.00
0.0
1.2
—
—
—
0
0
(3004959) Base excess in Arterial cord blood by calculation
0
5
0.00
0.00
0.0
1.0
—
—
—
0
0
(40759842) Ribonucleoprotein extractable nuclear Ab [Presence] in Serum by Immunoblot
0
9
0.00
0.00
0.0
1.2
—
—
—
0
0
(3000963) Hemoglobin [Mass/volume] in Blood
80
799
1.02
0.00
31.9
17.0
g/l
133.8
136.6
0.94
80
791
(3050238) Crystals [Presence] in Synovial fluid by Light microscopy
0
9
0.00
0.00
0.0
1.0
—
—
—
0
0
(3025634) Parainfluenza virus 1 RNA [Presence] in Specimen by NAA with probe detection
0
5
0.00
0.00
0.0
1.6
—
—
—
0
0
(3005011) Chlamydia sp Ab [Titer] in Serum
0
5
0.00
0.00
0.0
1.4
—
—
—
0
0
(44817194) Complement alternate pathway AH50 actual/normal in Serum by Immunoassay
0
7
0.00
0.00
0.0
1.0
—
84.7
—
0
7
(3040359) Human coronavirus NL63 RNA [Presence] in Specimen by NAA with probe detection
0
8
0.00
0.00
0.0
1.9
—
—
—
0
0
(40759836) Histone Ab [Presence] in Serum by Immunoblot
0
9
0.00
0.00
0.0
1.2
—
—
—
0
0
(3028369) Herpes simplex virus 1+2 DNA [Presence] in Specimen by NAA with probe detection
0
9
0.00
0.00
0.0
1.2
—
—
—
0
0
(3043453) Neutrophil cytoplasmic Ab.perinuclear [Titer] in Serum
0
7
0.00
0.00
0.0
1.1
—
—
—
0
0
(3029075) Extractable nuclear Ab panel - Serum
0
6
0.00
0.00
0.0
1.0
—
—
—
0
0
(3034603) RHD gene allele [Genotype] in Blood or Tissue by Molecular genetics method Nominal
0
8
0.00
0.00
0.0
1.3
—
—
—
0
0
(3008898) HLA-B27 [Presence]
6
61
0.98
0.00
1.0
1.1
—
—
—
0
0
(40768795) Lymph node Pathology biopsy report
0
5
0.00
0.00
0.0
1.6
—
—
—
0
0
(21494890) Protein electrophoresis panel - 24 hour Urine
0
8
0.00
0.00
0.0
5.1
—
—
—
0
0
(3049506) Microalbumin [Mass/time] in Urine collected for unspecified duration
0
5
0.00
0.00
0.0
1.2
—
—
—
0
0
(3038026) Centromere Ab [Units/volume] in Serum
0
6
0.00
0.00
0.0
1.5
—
—
—
0
0
(3011831) Apolipoprotein B/Apolipoprotein A-I [Percentile]
0
5
0.00
0.00
0.0
1.4
—
—
—
0
0
(3038546) Human coronavirus OC43 RNA [Presence] in Specimen by NAA with probe detection
0
8
0.00
0.00
0.0
1.9
—
—
—
0
0
(40766048) U1 small nuclear ribonucleoprotein 70kD Ab [Units/volume] in Serum by Immunoassay
0
6
0.00
0.00
0.0
1.5
—
—
—
0
0
(3042631) Mycobacterium sp identified in Specimen
0
5
0.00
0.00
0.0
7.2
—
—
—
0
0
(3049539) Genetic diseases [Identifier] in Blood or Tissue by FISH Nominal
0
7
0.00
0.00
0.0
1.6
—
—
—
0
0
(3036071) Salmonella sp Ab [Titer] in Serum
0
6
0.00
0.00
0.0
1.3
—
—
—
0
0
(4062490)
0
9
0.00
0.00
0.0
1.1
—
—
—
0
0
(3023420) DNA double strand Ab [Units/volume] in Serum
0
9
0.00
0.00
0.0
1.8
—
—
—
0
0
(3045683) HLA typing for celiac disease panel - Blood or Tissue
0
7
0.00
0.00
0.0
1.0
—
—
—
0
0
(3007449) CD3+CD8+ (T8 suppressor) cells/100 cells in Blood
0
5
0.00
0.00
0.0
3.6
—
24.4
—
0
5
(3006598) pH of Arterial cord blood
0
5
0.00
0.00
0.0
1.0
—
—
—
0
0
(3037556) Urate [Mass/volume] in Serum or Plasma
0
5
0.00
0.00
0.0
1.0
—
—
—
0
0
(3009871) Measles virus Ab [Titer] in Serum
0
5
0.00
0.00
0.0
1.6
—
—
—
0
0
(3044941) Cell count panel - Synovial fluid
0
6
0.00
0.00
0.0
1.3
—
—
—
0
0
(3008757) Leukocyte morphology finding [Identifier] in Blood
0
8
0.00
0.00
0.0
5.0
—
—
—
0
0
(3006588) Cancer Ag 15-3 [Units/volume] in Serum or Plasma
0
9
0.00
0.00
0.0
3.1
—
17.1
—
0
9
(3006571) Polymorphonuclear cells/100 leukocytes in Synovial fluid
0
5
0.00
0.00
0.0
1.2
—
40.4
—
0
5
(3041642) Human coronavirus 229E RNA [Presence] in Specimen by NAA with probe detection
0
8
0.00
0.00
0.0
1.9
—
—
—
0
0
(3011166) Borrelia burgdorferi Ab [Presence] in Cerebral spinal fluid
0
5
0.00
0.00
0.0
1.4
—
—
—
0
0
(3038297) Parainfluenza virus 4 RNA [Presence] in Specimen by NAA with probe detection
0
5
0.00
0.00
0.0
1.6
—
—
—
0
0
(3041008) Bicarbonate [Moles/volume] standard in Arterial cord blood
0
6
0.00
0.00
0.0
1.0
—
19.8
—
0
6
(3039443) Prostate specific Ag panel - Serum or Plasma
0
5
0.00
0.00
0.0
1.2
—
—
—
0
0
(21493690) Lymphocyte T-cell and B-cell and Natural killer subsets panel - Blood
0
6
0.00
0.00
0.0
3.8
—
—
—
0
0
(3041806) Other cells [#/volume] in Blood by Manual count
0
5
0.00
0.00
0.0
1.2
—
—
—
0
0
(42529201) Cancer Ag 19-9 [Units/volume] in Serum or Plasma by Immunoassay
0
8
0.00
0.00
0.0
3.5
—
17.1
—
0
8
(3042975) Streptococcus sp identified in Isolate by Organism specific culture
0
8
0.00
0.00
0.0
1.0
—
—
—
0
0
(3036782) Glucose [Moles/volume] in Pleural fluid
0
5
0.00
0.00
0.0
1.0
—
7.3
—
0
5
(3013201) Beta-2-Microglobulin [Mass/volume] in Serum or Plasma
0
5
0.00
0.00
0.0
2.0
—
3.7
—
0
5
(3014973) Borrelia burgdorferi IgM Ab [Units/volume] in Cerebral spinal fluid
0
5
0.00
0.00
0.0
1.4
—
—
—
0
0
(3008364) Apolipoprotein A-I [Mass/volume] in Serum or Plasma
0
5
0.00
0.00
0.0
1.4
—
—
—
0
0
(3026048) Bordetella pertussis IgG Ab [Units/volume] in Serum
0
5
0.00
0.00
0.0
1.0
—
—
—
0
0
(3006245) CD3-CD19+ cells/100 cells in Blood
0
7
0.00
0.00
0.0
5.1
—
6.1
—
0
7
(3012158) Parainfluenza virus 2 RNA [Presence] in Specimen by NAA with probe detection
0
5
0.00
0.00
0.0
1.6
—
—
—
0
0
(21494434) Karyotype in Bone marrow
0
7
0.00
0.00
0.0
1.1
—
—
—
0
0
(1175426) CD3 cells/100 lymphocytes in Blood
0
6
0.00
0.00
0.0
3.7
—
65.8
—
0
6
(3000060) B lymphocytes [#/volume] in Blood
0
5
0.00
0.00
0.0
3.4
—
—
—
0
0
(3022192) Triglyceride [Mass/volume] in Serum or Plasma
0
5
0.00
0.00
0.0
2.0
—
—
—
0
0
(3040363) Hepatitis A virus IgG Ab [Presence] in Serum by Immunoassay
0
5
0.00
0.00
0.0
1.0
—
—
—
0
0
(4281824)
0
6
0.00
0.00
0.0
1.0
—
—
—
0
0
(21491868) Cryoglobulin [Mass/volume] in Serum
0
5
0.00
0.00
0.0
1.0
—
—
—
0
0
(3011363) Streptococcus pneumoniae Ag [Presence] in Urine
0
7
0.00
0.00
0.0
1.1
—
—
—
0
0
(40768797) Stomach Pathology biopsy report
7
75
0.93
0.00
1.3
1.2
—
—
—
0
0
(3035941) MCH [Entitic mass]
80
799
1.02
0.00
31.0
16.9
pg
29.8
30.1
0.83
80
791
(3007847) Interleukin 2 Receptor Soluble [Units/volume] in Serum or Plasma
0
5
0.00
0.00
0.0
1.4
—
1142.0
—
0
5
(3032155) Metanephrine Free [Moles/volume] in Serum or Plasma
0
8
0.00
0.00
0.0
1.1
—
—
—
0
0
(40759844) Sjogrens syndrome-B extractable nuclear Ab [Presence] in Serum by Immunoblot
0
9
0.00
0.00
0.0
1.2
—
—
—
0
0
(3022575) Varicella zoster virus IgG Ab [Units/volume] in Serum
0
6
0.00
0.00
0.0
1.2
—
1809.2
—
0
6
(3021788) Differential panel - Synovial fluid
0
7
0.00
0.00
0.0
1.1
—
—
—
0
0
(40762119) U1 small nuclear ribonucleoprotein 70kD Ab [Units/volume] in Serum
0
8
0.00
0.00
0.0
1.0
—
—
—
0
0
(3024666) Lithium, Blood [Moles/volume] in Serum or Plasma
0
9
0.00
0.00
0.0
9.6
—
0.7
—
0
9
(3030408) 3-Methoxytyramine [Moles/volume] in Serum or Plasma
0
7
0.00
0.00
0.0
1.1
—
—
—
0
0

Mortality – FinRegistry

Association

Association between endpoint Q17_SPINA_BIFIDA and mortality.

Females

No data

Males

No data

Mortality 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]
Extremity
rg [CI]
Extremity
Hits
Coloc Hits
FinRegistry
FinnGen
FinRegistry
FinnGen
FinnGen
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