This is a non-core endpoint: only basic statistics are computed.
See these related core endpoints for full statistics:
Encephalocele
Q17_ENCEPHALOCELE
No definition available.
Endpoint definition
↥
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. |
37 |
4. Check minimum number of eventsNone |
37 |
5. Include endpointsNone |
37 |
6. Filter based on genotype QC (FinnGen only) |
37 |
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
- Encephalocele
Similar endpoints
↥List of similar endpoints to
Encephalocele
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 | 316 | 177 | 138 |
| Only index persons | 260 | 148 | 112 |
| Unadjusted period prevalence (%) | |||
| Whole population | 0.00 | 0.01 | 0.00 |
| Only index persons | 0.00 | 0.01 | 0.00 |
| Median age at first event (years) | |||
| Whole population | 20.81 | 26.49 | 13.47 |
| Only index persons | 27.41 | 31.38 | 22.16 |
-FinnGen-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | 37 | 28 | 9 |
| Unadjusted period prevalence (%) | 0.01 | 0.01 | 0.00 |
| Median age at first event (years) | 45.77 | 50.01 | 32.58 |
-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
No data
-FinnGen-
Cumulative Incidence Function
Not a core endpoint, no data to show.
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.
No data available
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
(3020044) Glucose [Moles/volume] in Cerebral spinal fluid
8
6
16.47
5.35
2.0
1.0
mmol/l
3.3
3.4
—
8
6
(3044640) Blood type and Crossmatch panel - Blood
22
89
4.63
5.00
2.5
2.1
—
—
—
0
0
(3044290) Cell count panel - Cerebral spinal fluid
7
6
13.95
4.47
2.3
1.5
—
—
—
0
0
(3026782) Osmolality of Urine
14
43
4.63
4.45
4.2
2.0
mosm/kgh2o
484.9
554.0
0.56
14
35
(3021347) Calcium.ionized [Moles/volume] in Serum or Plasma
23
107
4.04
4.11
8.0
4.1
mmol/l
1.2
1.2
0.19
23
98
(3032080) INR in Blood by Coagulation assay
21
94
3.85
3.92
4.6
4.6
inr
1.0
1.1
—
6
30
(3014162) Mycobacterium tuberculosis DNA [Presence] in Specimen by NAA with probe detection
6
5
13.92
3.90
1.8
2.0
—
—
—
0
0
(3033658) Prothrombin time (PT) actual/Normal
17
67
3.84
3.80
3.5
3.5
%
100.9
95.6
0.45
17
67
(3019473) Protein [Mass/volume] in Cerebral spinal fluid
7
9
9.25
3.74
2.1
1.6
mg/l
1111.4
325.0
—
7
9
(3016293) Bicarbonate [Moles/volume] in Serum or Plasma
9
18
6.24
3.64
3.0
2.8
mmol/l
22.8
24.5
—
9
18
(3023368) Bacteria identified in Blood by Culture
13
47
3.72
3.21
3.5
4.9
—
—
—
0
0
(3007844) Epstein Barr virus capsid IgM Ab [Units/volume] in Serum by Immunoassay
6
9
7.69
2.99
1.0
1.4
—
—
—
0
0
(3045783) Sodium and Potassium panel [Moles/volume] - Serum or Plasma
8
19
5.06
2.87
3.8
4.2
—
—
—
0
0
(3020682) Albumin/Creatinine [Ratio] in Urine
15
64
3.26
2.85
5.5
3.7
mg/mmol
1.9
9.9
—
9
38
(3012516) Albumin [Mass/volume] in Urine
14
61
3.08
2.53
5.0
2.8
mg/l
14.4
52.3
—
8
39
(3017918) Cytomegalovirus IgG Ab [Titer] in Serum or Plasma
6
12
5.73
2.51
1.0
1.3
—
—
—
0
0
(3015635) Cytomegalovirus IgM Ab [Units/volume] in Serum or Plasma
6
12
5.73
2.51
1.0
1.3
—
—
—
0
0
(3001079) Blood group antibody screen [Presence] in Serum or Plasma
22
125
2.87
2.46
4.1
4.0
—
—
—
0
0
(3019198) Lymphocytes [#/volume] in Blood
24
145
2.86
2.36
5.4
5.7
e9/l
2.1
1.9
0.41
24
136
(3001604) Monocytes [#/volume] in Blood
23
140
2.70
2.16
5.6
5.8
e9/l
0.6
0.6
0.19
23
124
(3018010) Neutrophils/100 leukocytes in Blood
23
140
2.70
2.16
5.5
5.4
%
59.9
55.9
0.78
23
130
(46236098) ABO and Rh group [Type] in Blood by Confirmatory method
14
66
2.80
2.16
3.1
2.0
—
—
—
0
0
(4035726)
7
21
3.86
2.08
1.0
1.5
—
—
—
0
0
(3006315) Basophils [#/volume] in Blood
23
142
2.64
2.07
5.6
5.7
e9/l
0.0
0.0
1.16
23
125
(3019902) Methicillin resistant Staphylococcus aureus [Presence] in Specimen by Organism specific culture
8
28
3.35
2.00
2.0
3.5
—
—
—
0
0
(3013115) Eosinophils [#/volume] in Blood
23
144
2.58
1.99
5.7
6.2
e9/l
0.2
0.2
0.26
23
134
(4010399)
7
23
3.50
1.91
1.3
1.3
—
—
—
0
0
(42870588) Differential panel, method unspecified - Blood
17
94
2.50
1.88
6.3
5.7
—
—
—
0
0
(3019800) Troponin T.cardiac [Mass/volume] in Serum or Plasma
16
87
2.48
1.83
3.0
3.7
ng/l
9.4
21.3
2.50
11
45
(3021601) Nitrite [Presence] in Urine by Test strip
21
133
2.34
1.68
6.0
4.4
estimate
0.0
0.0
—
5
34
(3048929) Epstein Barr virus Ab [Presence] in Serum
6
20
3.37
1.65
1.0
1.4
—
—
—
0
0
(40768804) Tissue Pathology biopsy report
19
116
2.31
1.65
2.1
1.9
—
—
—
0
0
(3002030) Lymphocytes/100 leukocytes in Blood
22
145
2.28
1.57
5.8
5.6
%
27.0
30.0
0.57
22
135
(3006140) Bilirubin.total [Moles/volume] in Serum or Plasma
22
147
2.22
1.50
7.5
7.1
umol/l
7.4
10.0
2.38
22
137
(3004490) Bicarbonate [Moles/volume] standard in Capillary blood
5
16
3.44
1.49
4.2
3.1
mmol/l
24.7
24.4
—
5
16
(3006504) Eosinophils/100 leukocytes in Blood
21
139
2.18
1.45
6.0
5.7
%
2.1
2.7
1.03
21
128
(3004410) Hemoglobin A1c/Hemoglobin.total in Blood
32
259
2.74
1.45
7.2
4.2
mmol/mol
38.9
37.2
0.47
32
250
(40761511) CBC panel - Blood by Automated count
37
331
+∞
1.44
18.2
9.9
—
—
—
0
0
(3019069) Monocytes/100 leukocytes in Blood
21
140
2.16
1.41
6.1
5.9
%
7.8
8.2
0.21
21
130
(3022313) Gas panel - Capillary blood
5
18
3.04
1.33
4.4
2.8
—
—
—
0
0
(3024135) Streptococcus.beta-hemolytic [Presence] in Throat by Organism specific culture
16
100
2.06
1.23
1.1
1.6
—
—
—
0
0
(3029937) Albumin [Presence] in Urine by Test strip
13
75
2.13
1.23
4.7
3.5
estimate
0.0
0.0
—
5
33
(3000850) Epithelial cells [#/volume] in Urine
10
53
2.22
1.14
5.1
2.1
e6/l
7.3
5.9
—
10
45
(3044938) Influenza virus A RNA [Presence] in Specimen by NAA with probe detection
7
33
2.38
1.13
1.4
2.2
—
—
—
0
0
(3013603) Prostate specific Ag [Mass/volume] in Serum or Plasma
5
21
2.59
1.13
2.6
5.8
ug/l
1.1
2.1
—
5
21
(40763086) Leukocyte esterase [Presence] in Urine by Automated test strip
16
103
1.98
1.12
4.2
3.3
—
—
—
0
0
(3041096) Erythrocytes [Presence] in Urine by Automated
14
86
2.01
1.11
3.1
2.4
—
—
—
0
0
(3037467) Urinalysis macro (dipstick) panel - Urine
26
199
2.03
1.10
7.0
3.5
—
—
—
0
0
(3035995) Alkaline phosphatase [Enzymatic activity/volume] in Serum or Plasma
27
211
2.03
1.05
10.5
8.0
u/l
95.1
78.3
0.68
27
196
(3002256) Pathology report gross observation
7
37
2.10
1.00
1.9
1.2
—
—
—
0
0
(3008486) Thyroxine (T4) free [Moles/volume] in Serum or Plasma
30
251
2.03
0.87
6.2
4.6
pmol/l
15.3
14.6
0.55
30
235
(40760892) CBC W Ordered Manual Differential panel - Blood
11
68
1.88
0.83
1.4
4.5
—
—
—
0
0
(3019225) pH of Specimen
5
23
2.35
0.79
2.6
5.2
—
—
—
0
0
(1001926) Buprenorphine [Presence] in Urine by Screen method
5
23
2.35
0.79
2.0
1.2
—
—
—
0
0
(3003338) MCHC [Mass/volume]
24
282
0.58
0.73
20.3
13.9
g/l
334.7
332.6
0.45
24
282
(3015399) Transferrin receptor.soluble [Mass/volume] in Serum or Plasma
10
63
1.80
0.70
3.4
1.9
mg/l
4.4
3.0
—
10
58
(3015736) pH of Urine
14
98
1.69
0.70
4.4
3.2
—
—
—
0
0
(40768797) Stomach Pathology biopsy report
7
44
1.73
0.69
1.1
1.2
—
—
—
0
0
(3027238) Thyroperoxidase Ab [Units/volume] in Serum or Plasma
5
28
1.90
0.69
1.0
1.2
iu/ml
—
138.3
—
0
9
(3016879) Cocaine [Presence] in Urine
5
29
1.83
0.66
2.0
1.1
—
—
—
0
0
(40761536) Microorganisms panel - Urine sediment
5
30
1.77
0.64
3.8
2.6
—
—
—
0
0
(3000764) Benzodiazepines [Presence] in Urine
5
30
1.77
0.64
2.0
1.1
—
—
—
0
0
(1761868) Lipid panel - Serum or Plasma
10
142
0.59
0.63
2.4
2.4
—
—
—
0
0
(43534045) MCM6 gene c.-13910C>T and -13915T>G [Identifier] in Blood or Tissue by Molecular genetics method Nominal
0
23
0.00
0.60
0.0
1.0
—
—
—
0
0
(3007853) Bacteria identified in Skin by Aerobe culture
6
37
1.74
0.59
2.7
1.6
—
—
—
0
0
(3029287) Urinalysis microscopic panel [#/volume] - Urine by Automated count
12
85
1.61
0.56
6.8
2.7
—
—
—
0
0
(3019284) Hepatitis B virus surface Ag [Presence] in Serum
5
83
0.54
0.53
1.8
1.7
—
—
—
0
0
(3011397) Hemoglobin [Presence] in Urine by Test strip
7
50
1.49
0.48
7.0
4.0
—
—
—
0
0
(36304419) Bacteria [Presence] in Urine
10
70
1.59
0.48
8.0
2.3
—
—
—
0
0
(3027008) Opiates [Presence] in Urine
5
31
1.71
0.45
2.0
1.1
—
—
—
0
0
(3028300) Cannabinoids [Presence] in Urine
5
31
1.71
0.45
2.0
1.1
—
—
—
0
0
(43054903) Holo-transcobalamin II [Moles/volume] in Serum
13
99
1.48
0.43
1.9
1.7
pmol/l
97.2
100.2
—
6
47
(3043238) Trisomy 21 risk [Likelihood] in Fetus
0
16
0.00
0.42
0.0
1.7
—
—
—
0
0
(3047352) Trisomy 18 risk [Likelihood] in Fetus
0
16
0.00
0.42
0.0
1.6
—
—
—
0
0
(3005033) Fetal Nuchal fold Thickness US
0
16
0.00
0.42
0.0
1.6
—
—
—
0
0
(3013512) EKG study
9
69
1.40
0.41
4.0
3.1
—
—
—
0
0
(3000494) Fungus identified in Specimen by Culture
6
42
1.51
0.38
1.7
1.3
—
—
—
0
0
(3042936) Bacteria identified in Isolate by Culture
5
39
1.33
0.24
3.4
1.7
—
—
—
0
0
(43054914) Glucose tolerance 2 hours panel - Serum or Plasma
5
42
1.22
0.22
1.8
2.1
—
—
—
0
0
(3023511) Choriogonadotropin [Units/volume] in Urine
0
11
0.00
0.22
0.0
1.8
—
—
—
0
0
(1002102) Choriogonadotropin.intact+Beta subunit [Mass/volume] in Serum or Plasma
0
11
0.00
0.22
0.0
1.5
—
—
—
0
0
(3004529) Oxygen [Partial pressure] adjusted to patient's actual temperature in Venous blood
0
10
0.00
0.22
0.0
3.3
—
34.5
—
0
10
(40768793) Breast Pathology biopsy report
0
12
0.00
0.21
0.0
1.4
—
—
—
0
0
(21492888) Glucose tolerance 2 hours gestational panel - Serum or Plasma
0
12
0.00
0.21
0.0
1.9
—
—
—
0
0
(3020321) Streptococcus agalactiae [Presence] in Vaginal fluid by Organism specific culture
0
12
0.00
0.21
0.0
1.5
—
—
—
0
0
(3027273) Bicarbonate [Moles/volume] in Venous blood
0
13
0.00
0.21
0.0
3.0
—
24.5
—
0
13
(3044889) 12 lead EKG panel
21
189
1.26
0.20
4.2
3.1
—
—
—
0
0
(3021614) Rheumatoid factor [Units/volume] in Serum or Plasma
6
52
1.18
0.20
1.2
1.4
—
13.4
—
0
16
(3024950) Chlamydia trachomatis DNA [Presence] in Urine by NAA with probe detection
5
67
0.71
0.19
2.6
2.7
—
—
—
0
0
(3026008) Bacteria identified in Urine by Culture
8
70
1.18
0.18
7.4
2.5
—
—
—
0
0
(40758558) Short blood count panel - Blood
10
84
1.26
0.16
2.8
7.8
—
—
—
0
0
(3003510) Neisseria gonorrhoeae DNA [Presence] in Urine by NAA with probe detection
5
63
0.76
0.09
2.4
2.6
—
—
—
0
0
(3018006) Microscopic observation [Identifier] in Cervix by Cyto stain.thin prep
7
66
1.07
0.08
1.0
1.5
—
—
—
0
0
(3009542) Hematocrit [Volume Fraction] of Blood
31
300
1.21
0.08
16.5
11.4
%
41.1
40.9
0.14
23
259
(3048773) Triglyceride [Moles/volume] in Serum or Plasma --fasting
29
282
1.13
0.07
4.2
3.2
mmol/l
1.4
1.3
0.14
29
268
(46235355) HIV 1 and 2 tests - Meaningful Use set
10
97
1.04
0.00
1.7
2.2
—
—
—
0
0
(706163) SARS-CoV-2 (COVID-19) RNA [Presence] in Respiratory system specimen by NAA with probe detection
26
263
0.96
0.00
3.7
3.6
—
—
—
0
0
(3003694) ABO and Rh group [Type] in Blood
10
96
1.06
0.00
1.4
1.7
—
—
—
0
0
(3019900) Cholesterol [Moles/volume] in Serum or Plasma
30
296
1.07
0.00
5.0
3.6
mmol/l
4.7
4.8
0.19
30
285
(3023602) Cholesterol in HDL [Moles/volume] in Serum or Plasma
30
295
1.09
0.00
5.5
3.5
mmol/l
1.4
1.5
0.39
30
282
(3016650) Hepatitis A virus Ab [Presence] in Serum
0
6
0.00
0.00
0.0
1.0
—
—
—
0
0
(3044941) Cell count panel - Synovial fluid
0
6
0.00
0.00
0.0
1.3
—
—
—
0
0
(3020287) Protein C actual/normal in Platelet poor plasma by Coagulation assay
0
5
0.00
0.00
0.0
1.0
—
105.2
—
0
5
(3043405) Microscopic observation [Identifier] in Specimen by Non-gynecological cytology method
0
6
0.00
0.00
0.0
1.0
—
—
—
0
0
(3021788) Differential panel - Synovial fluid
0
5
0.00
0.00
0.0
1.4
—
—
—
0
0
(3000855) Microscopic observation [Identifier] in Vaginal fluid by Gram stain
0
6
0.00
0.00
0.0
1.5
—
—
—
0
0
(40759849) Smith extractable nuclear Ab [Presence] in Serum by Immunoblot
0
5
0.00
0.00
0.0
1.0
—
—
—
0
0
(3020629) Protein S Free Ag actual/normal in Platelet poor plasma by Immunoassay
0
5
0.00
0.00
0.0
1.0
—
91.0
—
0
5
(3025130) Human papilloma virus identified in Specimen
0
5
0.00
0.00
0.0
1.6
—
—
—
0
0
(4281824)
0
5
0.00
0.00
0.0
1.2
—
—
—
0
0
(3002148) Methylenedioxymethamphetamine [Presence] in Urine by Screen method
0
6
0.00
0.00
0.0
1.0
—
—
—
0
0
(40759812) SCL-70 extractable nuclear Ab [Presence] in Serum by Immunoblot
0
5
0.00
0.00
0.0
1.0
—
—
—
0
0
(40759843) Sjogrens syndrome-A extractable nuclear Ab [Presence] in Serum by Immunoblot
0
5
0.00
0.00
0.0
1.0
—
—
—
0
0
(4306422)
0
5
0.00
0.00
0.0
1.0
—
—
—
0
0
(3008909) Norovirus RNA [Presence] in Stool by NAA with probe detection
0
6
0.00
0.00
0.0
1.2
—
—
—
0
0
(40759844) Sjogrens syndrome-B extractable nuclear Ab [Presence] in Serum by Immunoblot
0
5
0.00
0.00
0.0
1.0
—
—
—
0
0
(3004248) Sex hormone binding globulin [Moles/volume] in Serum or Plasma
0
6
0.00
0.00
0.0
1.3
—
32.2
—
0
6
(3025018) Bordetella pertussis Ab [Titer] in Serum
0
6
0.00
0.00
0.0
1.0
—
—
—
0
0
(3013527) Hepatitis B virus core IgM Ab [Presence] in Serum
0
8
0.00
0.00
0.0
1.5
—
—
—
0
0
(3038177) Helicobacter pylori Ab [Presence] in Serum
0
6
0.00
0.00
0.0
1.2
—
—
—
0
0
(40759842) Ribonucleoprotein extractable nuclear Ab [Presence] in Serum by Immunoblot
0
5
0.00
0.00
0.0
1.0
—
—
—
0
0
(40759836) Histone Ab [Presence] in Serum by Immunoblot
0
5
0.00
0.00
0.0
1.0
—
—
—
0
0
(4268621)
0
5
0.00
0.00
0.0
1.8
—
—
—
0
0
(3028271) Lactate [Moles/volume] in Capillary blood
0
6
0.00
0.00
0.0
1.7
—
1.5
—
0
6
(3021901) Oxygen saturation in Capillary blood
0
7
0.00
-0.00
0.0
1.3
—
—
—
0
0
(3008832) Norclozapine [Moles/volume] in Serum or Plasma
0
7
0.00
-0.00
0.0
13.7
—
1074.6
—
0
7
(3043362) Influenza virus B Ag [Presence] in Nasopharynx by Immunoassay
0
7
0.00
-0.00
0.0
1.0
—
—
—
0
0
(3029511) Human papilloma virus DNA [Presence] in Specimen by NAA with probe detection
0
9
0.00
-0.00
0.0
1.8
—
—
—
0
0
(3000081) cloZAPine [Moles/volume] in Serum or Plasma
0
7
0.00
-0.00
0.0
17.3
—
2016.3
—
0
7
(3022806) Fractional oxyhemoglobin in Capillary blood
0
7
0.00
-0.00
0.0
1.6
—
91.6
—
0
7
(3042206) Streptococcus agalactiae Ag [Presence] in Vaginal fluid
0
9
0.00
-0.00
0.0
1.2
—
—
—
0
0
(3042975) Streptococcus sp identified in Isolate by Organism specific culture
0
7
0.00
-0.00
0.0
1.0
—
—
—
0
0
(3046524) Influenza virus A Ag [Presence] in Nasopharynx by Immunoassay
0
7
0.00
-0.00
0.0
1.0
—
—
—
0
0
(3015816) F5 gene p.Arg506Gln [Presence] in Blood or Tissue by Molecular genetics method
0
7
0.00
-0.00
0.0
1.0
—
—
—
0
0
Mortality – FinRegistry
↥Association
Association between endpoint Q17_ENCEPHALOCELE and mortality.
Females
No dataMales
No dataMortality risk
Mortality risk for people of age
years, who have Q17_ENCEPHALOCELE.| 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_ENCEPHALOCELE – Encephalocele
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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