Risteys · Q17_ENCEPHALOCELE

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 — Q01 Cause of death: ICD-10 — Q01 2 out of 7 registries used, show all original rules.	37
4. Check minimum number of events None	37
5. Include endpoints None	37
6. Filter based on genotype QC (FinnGen only)	37

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

↥

N Cases

N Controls

-log₁₀(p)

cases

controls

cases

controls

unit

-log₁₀(p)

N cases

N controls

(3020044) Glucose [Moles/volume] in Cerebral spinal fluid

16.47

5.35

2.0

1.0

3.26

3.43

mmol/l

—

(3044640) Blood type and Crossmatch panel - Blood

4.63

5.00

2.5

2.1

—

(3044290) Cell count panel - Cerebral spinal fluid

13.95

4.47

2.3

1.5

—

(3026782) Osmolality of Urine

4.63

4.45

4.2

2.0

484.86

554.03

mosm/kgh2o

0.56

(3021347) Calcium.ionized [Moles/volume] in Serum or Plasma

107

4.04

4.11

8.0

4.1

1.22

1.23

mmol/l

0.19

(3032080) INR in Blood by Coagulation assay

3.85

3.92

4.6

0.98

1.05

inr

—

(3014162) Mycobacterium tuberculosis DNA [Presence] in Specimen by NAA with probe detection

13.92

3.90

1.8

2.0

—

(3033658) Prothrombin time (PT) actual/Normal

3.84

3.80

3.5

100.88

95.60

0.45

(3019473) Protein [Mass/volume] in Cerebral spinal fluid

9.25

3.74

2.1

1.6

1111.43

325.00

mg/l

—

(3016293) Bicarbonate [Moles/volume] in Serum or Plasma

6.24

3.64

3.0

2.8

22.80

24.48

mmol/l

—

(3023368) Bacteria identified in Blood by Culture

3.72

3.21

3.5

4.9

—

(3007844) Epstein Barr virus capsid IgM Ab [Units/volume] in Serum by Immunoassay

7.69

2.99

1.0

1.4

—

(3045783) Sodium and Potassium panel [Moles/volume] - Serum or Plasma

5.06

2.87

3.8

4.2

—

(3020682) Albumin/Creatinine [Ratio] in Urine

3.26

2.85

5.5

3.7

1.86

9.87

mg/mmol

—

(3012516) Albumin [Mass/volume] in Urine

3.08

2.53

5.0

2.8

14.36

52.30

mg/l

—

(3017918) Cytomegalovirus IgG Ab [Titer] in Serum or Plasma

5.73

2.51

1.0

1.3

—

(3015635) Cytomegalovirus IgM Ab [Units/volume] in Serum or Plasma

5.73

2.51

1.0

1.3

—

(3001079) Blood group antibody screen [Presence] in Serum or Plasma

125

2.87

2.46

4.1

4.0

—

(3019198) Lymphocytes [#/volume] in Blood

145

2.86

2.36

5.4

5.7

2.06

1.91

e9/l

0.41

136

(3001604) Monocytes [#/volume] in Blood

140

2.70

2.16

5.6

5.8

0.59

0.57

e9/l

0.19

124

(3018010) Neutrophils/100 leukocytes in Blood

140

2.70

2.16

5.5

5.4

59.87

55.91

0.78

130

(46236098) ABO and Rh group [Type] in Blood by Confirmatory method

2.80

2.16

3.1

2.0

—

(4035726)

3.86

2.08

1.0

1.5

—

(3006315) Basophils [#/volume] in Blood

142

2.64

2.07

5.6

5.7

0.03

0.04

e9/l

1.16

125

(3019902) Methicillin resistant Staphylococcus aureus [Presence] in Specimen by Organism specific culture

3.35

2.00

2.0

3.5

—

(3013115) Eosinophils [#/volume] in Blood

144

2.58

1.99

5.7

6.2

0.17

0.19

e9/l

0.26

134

(4010399)

3.50

1.91

1.3

—

(42870588) Differential panel, method unspecified - Blood

2.50

1.88

6.3

5.7

—

(3019800) Troponin T.cardiac [Mass/volume] in Serum or Plasma

2.48

1.83

3.0

3.7

9.44

21.27

ng/l

2.50

(3021601) Nitrite [Presence] in Urine by Test strip

133

2.34

1.68

6.0

4.4

0.00

estimate

—

(3048929) Epstein Barr virus Ab [Presence] in Serum

3.37

1.65

1.0

1.4

—

(40768804) Tissue Pathology biopsy report

116

2.31

1.65

2.1

1.9

—

(3002030) Lymphocytes/100 leukocytes in Blood

145

2.28

1.57

5.8

5.6

27.00

29.99

0.57

135

(3006140) Bilirubin.total [Moles/volume] in Serum or Plasma

147

2.22

1.50

7.5

7.1

7.45

9.97

umol/l

2.38

137

(3004490) Bicarbonate [Moles/volume] standard in Capillary blood

3.44

1.49

4.2

3.1

24.66

24.41

mmol/l

—

(3006504) Eosinophils/100 leukocytes in Blood

139

2.18

1.45

6.0

5.7

2.10

2.72

1.03

128

(3004410) Hemoglobin A1c/Hemoglobin.total in Blood

259

2.74

1.45

7.2

4.2

38.89

37.25

mmol/mol

0.47

250

(40761511) CBC panel - Blood by Automated count

331

+∞

1.44

18.2

9.9

—

(3019069) Monocytes/100 leukocytes in Blood

140

2.16

1.41

6.1

5.9

7.80

8.16

0.21

130

(3022313) Gas panel - Capillary blood

3.04

1.33

4.4

2.8

—

(3024135) Streptococcus.beta-hemolytic [Presence] in Throat by Organism specific culture

100

2.06

1.23

1.1

1.6

—

(3029937) Albumin [Presence] in Urine by Test strip

2.13

1.23

4.7

3.5

0.00

estimate

—

(3000850) Epithelial cells [#/volume] in Urine

2.22

1.14

5.1

2.1

7.27

5.93

e6/l

—

(3044938) Influenza virus A RNA [Presence] in Specimen by NAA with probe detection

2.38

1.13

1.4

2.2

—

(3013603) Prostate specific Ag [Mass/volume] in Serum or Plasma

2.59

1.13

2.6

5.8

1.09

2.13

ug/l

—

(40763086) Leukocyte esterase [Presence] in Urine by Automated test strip

103

1.98

1.12

4.2

3.3

—

(3041096) Erythrocytes [Presence] in Urine by Automated

2.01

1.11

3.1

2.4

—

(3037467) Urinalysis macro (dipstick) panel - Urine

199

2.03

1.10

7.0

3.5

—

(3035995) Alkaline phosphatase [Enzymatic activity/volume] in Serum or Plasma

211

2.03

1.05

10.5

8.0

95.07

78.30

u/l

0.68

196

(3002256) Pathology report gross observation

2.10

1.00

1.9

1.2

—

(3008486) Thyroxine (T4) free [Moles/volume] in Serum or Plasma

251

2.03

0.87

6.2

4.6

15.26

14.56

pmol/l

0.55

235

(40760892) CBC W Ordered Manual Differential panel - Blood

1.88

0.83

1.4

4.5

—

(3019225) pH of Specimen

2.35

0.79

2.6

5.2

—

(1001926) Buprenorphine [Presence] in Urine by Screen method

2.35

0.79

2.0

1.2

—

(3003338) MCHC [Mass/volume]

282

0.58

0.73

20.3

13.9

334.67

332.64

g/l

0.45

282

(3015399) Transferrin receptor.soluble [Mass/volume] in Serum or Plasma

1.80

0.70

3.4

1.9

4.37

2.98

mg/l

—

(3015736) pH of Urine

1.69

0.70

4.4

3.2

—

(40768797) Stomach Pathology biopsy report

1.73

0.69

1.1

1.2

—

(3027238) Thyroperoxidase Ab [Units/volume] in Serum or Plasma

1.90

0.69

1.0

1.2

—

138.30

iu/ml

—

(3016879) Cocaine [Presence] in Urine

1.83

0.66

2.0

1.1

—

(40761536) Microorganisms panel - Urine sediment

1.77

0.64

3.8

2.6

—

(3000764) Benzodiazepines [Presence] in Urine

1.77

0.64

2.0

1.1

—

(1761868) Lipid panel - Serum or Plasma

142

0.59

0.63

2.4

—

(43534045) MCM6 gene c.-13910C>T and -13915T>G [Identifier] in Blood or Tissue by Molecular genetics method Nominal

0.00

0.60

0.0

1.0

—

(3007853) Bacteria identified in Skin by Aerobe culture

1.74

0.59

2.7

1.6

—

(3029287) Urinalysis microscopic panel [#/volume] - Urine by Automated count

1.61

0.56

6.8

2.7

—

(3019284) Hepatitis B virus surface Ag [Presence] in Serum

0.54

0.53

1.8

1.7

—

(3011397) Hemoglobin [Presence] in Urine by Test strip

1.49

0.48

7.0

4.0

—

(36304419) Bacteria [Presence] in Urine

1.59

0.48

8.0

2.3

—

(3027008) Opiates [Presence] in Urine

1.71

0.45

2.0

1.1

—

(3028300) Cannabinoids [Presence] in Urine

1.71

0.45

2.0

1.1

—

(43054903) Holo-transcobalamin II [Moles/volume] in Serum

1.48

0.43

1.9

1.7

97.20

100.21

pmol/l

—

(3043238) Trisomy 21 risk [Likelihood] in Fetus

0.00

0.42

0.0

1.7

—

(3047352) Trisomy 18 risk [Likelihood] in Fetus

0.00

0.42

0.0

1.6

—

(3005033) Fetal Nuchal fold Thickness US

0.00

0.42

0.0

1.6

—

(3013512) EKG study

1.40

0.41

4.0

3.1

—

(3000494) Fungus identified in Specimen by Culture

1.51

0.38

1.7

1.3

—

(3042936) Bacteria identified in Isolate by Culture

1.33

0.24

3.4

1.7

—

(43054914) Glucose tolerance 2 hours panel - Serum or Plasma

1.22

0.22

1.8

2.1

—

(3023511) Choriogonadotropin [Units/volume] in Urine

0.00

0.22

0.0

1.8

—

(1002102) Choriogonadotropin.intact+Beta subunit [Mass/volume] in Serum or Plasma

0.00

0.22

0.0

1.5

—

(3004529) Oxygen [Partial pressure] adjusted to patient's actual temperature in Venous blood

0.00

0.22

0.0

3.3

—

34.54

—

(40768793) Breast Pathology biopsy report

0.00

0.21

0.0

1.4

—

(21492888) Glucose tolerance 2 hours gestational panel - Serum or Plasma

0.00

0.21

0.0

1.9

—

(3020321) Streptococcus agalactiae [Presence] in Vaginal fluid by Organism specific culture

0.00

0.21

0.0

1.5

—

(3027273) Bicarbonate [Moles/volume] in Venous blood

0.00

0.21

0.0

3.0

—

24.52

—

(3044889) 12 lead EKG panel

189

1.26

0.20

4.2

3.1

—

(3021614) Rheumatoid factor [Units/volume] in Serum or Plasma

1.18

0.20

1.2

1.4

—

13.43

—

(3024950) Chlamydia trachomatis DNA [Presence] in Urine by NAA with probe detection

0.71

0.19

2.6

2.7

—

(3026008) Bacteria identified in Urine by Culture

1.18

0.18

7.4

2.5

—

(40758558) Short blood count panel - Blood

1.26

0.16

2.8

7.8

—

(3003510) Neisseria gonorrhoeae DNA [Presence] in Urine by NAA with probe detection

0.76

0.09

2.4

2.6

—

(3018006) Microscopic observation [Identifier] in Cervix by Cyto stain.thin prep

1.07

0.08

1.0

1.5

—

(3009542) Hematocrit [Volume Fraction] of Blood

300

1.21

0.08

16.5

11.4

41.13

40.91

0.14

259

(3048773) Triglyceride [Moles/volume] in Serum or Plasma --fasting

282

1.13

0.07

4.2

3.2

1.38

1.32

mmol/l

0.14

268

(46235355) HIV 1 and 2 tests - Meaningful Use set

1.04

0.00

1.7

2.2

—

(706163) SARS-CoV-2 (COVID-19) RNA [Presence] in Respiratory system specimen by NAA with probe detection

263

0.96

0.00

3.7

3.6

—

(3003694) ABO and Rh group [Type] in Blood

1.06

0.00

1.4

1.7

—

(3019900) Cholesterol [Moles/volume] in Serum or Plasma

296

1.07

0.00

5.0

3.6

4.71

4.80

mmol/l

0.19

285

(3023602) Cholesterol in HDL [Moles/volume] in Serum or Plasma

295

1.09

0.00

5.5

3.5

1.43

1.52

mmol/l

0.39

282

(3016650) Hepatitis A virus Ab [Presence] in Serum

0.00

0.0

1.0

—

(3044941) Cell count panel - Synovial fluid

0.00

0.0

1.3

—

(3020287) Protein C actual/normal in Platelet poor plasma by Coagulation assay

0.00

0.0

1.0

—

105.20

—

(3043405) Microscopic observation [Identifier] in Specimen by Non-gynecological cytology method

0.00

0.0

1.0

—

(3021788) Differential panel - Synovial fluid

0.00

0.0

1.4

—

(3000855) Microscopic observation [Identifier] in Vaginal fluid by Gram stain

0.00

0.0

1.5

—

(40759849) Smith extractable nuclear Ab [Presence] in Serum by Immunoblot

0.00

0.0

1.0

—

(3020629) Protein S Free Ag actual/normal in Platelet poor plasma by Immunoassay

0.00

0.0

1.0

—

91.00

—

(3025130) Human papilloma virus identified in Specimen

0.00

0.0

1.6

—

(4281824)

0.00

0.0

1.2

—

(3002148) Methylenedioxymethamphetamine [Presence] in Urine by Screen method

0.00

0.0

1.0

—

(40759812) SCL-70 extractable nuclear Ab [Presence] in Serum by Immunoblot

0.00

0.0

1.0

—

(40759843) Sjogrens syndrome-A extractable nuclear Ab [Presence] in Serum by Immunoblot

0.00

0.0

1.0

—

(4306422)

0.00

0.0

1.0

—

(3008909) Norovirus RNA [Presence] in Stool by NAA with probe detection

0.00

0.0

1.2

—

(40759844) Sjogrens syndrome-B extractable nuclear Ab [Presence] in Serum by Immunoblot

0.00

0.0

1.0

—

(3004248) Sex hormone binding globulin [Moles/volume] in Serum or Plasma

0.00

0.0

1.3

—

32.17

—

(3025018) Bordetella pertussis Ab [Titer] in Serum

0.00

0.0

1.0

—

(3013527) Hepatitis B virus core IgM Ab [Presence] in Serum

0.00

0.0

1.5

—

(3038177) Helicobacter pylori Ab [Presence] in Serum

0.00

0.0

1.2

—

(40759842) Ribonucleoprotein extractable nuclear Ab [Presence] in Serum by Immunoblot

0.00

0.0

1.0

—

(40759836) Histone Ab [Presence] in Serum by Immunoblot

0.00

0.0

1.0

—

(4268621)

0.00

0.0

1.8

—

(3028271) Lactate [Moles/volume] in Capillary blood

0.00

0.0

1.7

—

1.53

—

(3021901) Oxygen saturation in Capillary blood

0.00

-0.00

0.0

1.3

—

(3008832) Norclozapine [Moles/volume] in Serum or Plasma

0.00

-0.00

0.0

13.7

—

1074.57

—

(3043362) Influenza virus B Ag [Presence] in Nasopharynx by Immunoassay

0.00

-0.00

0.0

1.0

—

(3029511) Human papilloma virus DNA [Presence] in Specimen by NAA with probe detection

0.00

-0.00

0.0

1.8

—

(3000081) cloZAPine [Moles/volume] in Serum or Plasma

0.00

-0.00

0.0

17.3

—

2016.29

—

(3022806) Fractional oxyhemoglobin in Capillary blood

0.00

-0.00

0.0

1.6

—

91.61

—

(3042206) Streptococcus agalactiae Ag [Presence] in Vaginal fluid

0.00

-0.00

0.0

1.2

—

(3042975) Streptococcus sp identified in Isolate by Organism specific culture

0.00

-0.00

0.0

1.0

—

(3046524) Influenza virus A Ag [Presence] in Nasopharynx by Immunoassay

0.00

-0.00

0.0

1.0

—

(3015816) F5 gene p.Arg506Gln [Presence] in Blood or Tissue by Molecular genetics method

0.00

-0.00

0.0

1.0

—

Mortality – FinRegistry

↥

Association

Association between endpoint Q17_ENCEPHALOCELE and mortality.

Females

No data

Males

No data

Mortality 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]

rg [CI]

Hits

Coloc Hits

FinRegistry

FinnGen

FinRegistry

FinnGen

Loading data

NAME	Q17_ENCEPHALOCELE
CONTROL_EXCLUDE	Q17_CONGEN_MALFO_NERVOUS_SYSTEM
CONTROL_PRECONDITIONS
CONTROL_CONDITIONS
SEX
INCLUDE
PRE_CONDITIONS
CONDITIONS
OUTPAT_ICD
OUTPAT_OPER
HD_MAINONLY
HD_ICD_10_ATC
HD_ICD_10	Q01
HD_ICD_9
HD_ICD_8
HD_ICD_10_EXCL
HD_ICD_9_EXCL
HD_ICD_8_EXCL
COD_MAINONLY
COD_ICD_10	Q01
COD_ICD_9
COD_ICD_8
COD_ICD_10_EXCL
COD_ICD_9_EXCL
COD_ICD_8_EXCL
OPER_NOM
OPER_HL
OPER_HP1
OPER_HP2
KELA_REIMB
KELA_REIMB_ICD
KELA_ATC_NEEDOTHER
KELA_ATC
KELA_VNRO_NEEDOTHER
KELA_VNRO
CANC_TOPO
CANC_TOPO_EXCL
CANC_MORPH
CANC_MORPH_EXCL
CANC_BEHAV

Encephalocele

Endpoint definition

Endpoint definition steps

FinnGen

Phenotype data

1. Apply sex-specific rule

2. Check conditions

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

4. Check minimum number of events

5. Include endpoints

6. Filter based on genotype QC (FinnGen only)

Similar endpoints

Case counts by codes

Summary Statistics

-FinRegistry-

Key figures

-FinnGen-

Key figures

-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

CodeWAS (R11)

LabWAS

Mortality – FinRegistry

Association

Females

Males

Mortality risk

Relationships between endpoints