Encephalocele

Q17_ENCEPHALOCELE

No definition available.

Endpoint definition

↥

Report an error or suggest an improvement for this endpoint codes

Endpoint definition steps	FinnGen
Phenotype data	557745
1. Apply sex-specific rule None	557745
2. Check conditions None	557745
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.	47
4. Check minimum number of events None	47
5. Include endpoints None	47
6. Filter based on genotype QC (FinnGen only)	45

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

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

Similar endpoints

↥

List of similar endpoints to Encephalocele based on the number of shared cases.

Similar with more cases:

Similar with less cases:

None

Case counts by codes

↥

FinnGen case counts by registry codes:

Upset plot

Full data table

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	45	34	11
Unadjusted period prevalence (%)	0.01	0.01	0.01
Median age at first event (years)	47.35	52.05	32.83

-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

↥

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

(3044640) Blood type and Crossmatch panel - Blood

119

4.89

6.50

2.8

2.4

—

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

150

5.25

6.48

8.9

5.2

1.21

1.22

mmol/l

0.38

140

(3019977) pH of Arterial blood

7.08

6.34

4.9

8.6

7.42

7.40

—

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

13.58

5.56

1.9

1.0

3.02

3.44

mmol/l

—

(3008733) Herpes simplex virus DNA [Presence] in Cerebral spinal fluid by NAA with probe detection

+∞

5.30

1.2

0.0

—

(3037677) Mycoplasma pneumoniae IgM Ab [Titer] in Cerebral spinal fluid

+∞

5.30

1.2

0.0

—

(3032080) INR in Blood by Coagulation assay

138

3.98

4.93

5.3

9.6

1.04

1.11

inr

0.59

114

(3014218) Bicarbonate [Moles/volume] standard in Arterial blood

7.65

4.59

3.2

12.3

22.90

23.95

mmol/l

—

(3026782) Osmolality of Urine

3.98

4.48

4.1

1.9

505.59

534.60

mosm/kgh2o

0.22

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

3.71

4.44

2.8

2.4

—

(3044290) Cell count panel - Cerebral spinal fluid

13.42

4.43

2.3

1.5

—

(3023368) Bacteria identified in Blood by Culture

3.73

4.32

4.3

4.9

—

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

9.39

4.25

2.0

2.2

—

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

5.41

4.19

5.3

6.4

23.10

24.51

mmol/l

0.84

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

6.65

3.15

1.0

1.3

—

(3006217) Methemoglobin/Hemoglobin.total in Arterial blood

5.45

3.07

3.4

12.1

0.68

—

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

179

2.94

3.01

3.0

2.8

—

estimate

—

(3028653) Carboxyhemoglobin/Hemoglobin.total in Arterial blood

5.14

2.95

3.4

11.8

1.05

1.29

—

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

124

2.71

2.73

3.1

3.6

101.72

19.35

ng/l

0.41

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

5.29

2.71

1.0

1.2

—

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

5.29

2.71

1.0

1.2

—

(3018010) Neutrophils/Leukocytes in Blood

187

2.74

2.65

6.3

5.6

59.70

56.57

0.75

178

(3003458) Phosphate [Moles/volume] in Serum or Plasma

3.18

2.60

9.3

2.8

1.02

1.03

mmol/l

0.02

(40768804) Tissue Pathology biopsy report

153

2.61

2.55

2.1

1.9

—

(42870588) Differential panel, method unspecified - Blood

120

2.60

2.51

6.5

6.2

—

(3019198) Lymphocytes [#/volume] in Blood

202

2.64

2.42

6.2

5.8

1.99

1.91

e9/l

0.20

184

(3001604) Monocytes [#/volume] in Blood

195

2.55

2.31

6.3

5.9

0.59

0.56

e9/l

0.30

170

(3014111) Lactate [Moles/volume] in Serum or Plasma

3.81

2.30

3.8

8.9

0.80

1.08

mmol/l

—

(3014007) Fractional oxyhemoglobin in Arterial blood

4.15

2.25

3.7

11.5

96.06

95.18

—

(3006315) Basophils [#/volume] in Blood

197

2.50

2.23

6.3

5.9

0.03

0.04

e9/l

0.63

170

(3014576) Chloride [Moles/volume] in Serum or Plasma

3.08

2.17

10.0

7.8

105.00

104.29

mmol/l

—

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

3.50

2.13

3.8

5.4

—

(36305247) Microscopic observation [Identifier] in Isolate by Gram stain

5.45

2.12

1.8

2.0

—

(3002030) Lymphocytes/Leukocytes in Blood

191

2.40

2.10

6.4

5.9

26.69

29.03

0.54

180

(4035726) Immunohistochemistry procedure

3.36

2.05

1.0

1.5

—

(3018418) pH of Serum or Plasma

2.41

2.03

9.2

2.8

7.38

7.40

1.86

(3027475) Erythrocytes [#/volume] in Cerebral spinal fluid

4.95

1.99

1.4

1.3

101428.60

29.73

e6/l

—

(3013115) Eosinophils [#/volume] in Blood

204

2.35

1.97

6.4

6.0

0.17

0.20

e9/l

0.57

183

(3022096) Basophils/Leukocytes in Blood

185

2.31

1.97

6.7

5.9

0.53

0.68

0.93

171

(3006504) Eosinophils/Leukocytes in Blood

185

2.31

1.97

6.7

5.9

2.29

2.79

0.90

173

(3019069) Monocytes/Leukocytes in Blood

186

2.29

1.93

6.7

5.9

8.39

8.34

0.03

174

(3037467) Urinalysis macro (dipstick) panel - Urine

257

2.51

1.89

6.8

3.9

—

(3001334) Neutrophil cytoplasmic Ab [Units/volume] in Serum

4.53

1.87

1.2

1.1

—

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

2.86

1.86

3.6

3.3

—

(3022313) Gas panel - Capillary blood

3.67

1.81

5.2

2.9

—

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

3.25

1.80

1.1

1.4

—

(3020682) Albumin/Creatinine [Ratio] in Urine

102

2.26

1.78

5.4

3.6

2.10

6.64

mg/mmol

0.72

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

273

2.47

1.73

11.4

8.7

92.25

79.67

u/l

0.66

258

(3020564) Creatinine [Moles/volume] in Serum or Plasma

416

+∞

1.62

26.7

15.3

69.98

70.63

umol/l

0.06

408

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

3.37

1.48

5.6

3.2

24.86

24.41

mmol/l

—

(3000991) Gas panel - Venous blood

2.66

1.46

9.7

8.0

—

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

193

1.97

1.37

9.3

7.5

7.30

9.93

umol/l

3.17

183

(3013512) EKG study

104

2.01

1.34

3.7

2.9

—

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

130

1.95

1.33

1.6

1.8

—

(40758558) Short blood count panel - Blood

131

1.93

1.29

3.6

6.3

—

(40761511) CBC panel - Blood by Automated count

425

+∞

1.21

20.2

10.9

—

(3004410) Hemoglobin A1c/Hemoglobin.total in Blood

351

2.54

1.21

8.1

4.9

39.39

37.08

mmol/mol

0.92

342

(3012516) Albumin [Mass/volume] in Urine

100

1.92

1.17

5.2

2.9

16.10

38.14

mg/l

—

(3015736) pH of Urine

145

1.82

1.13

4.2

3.4

6.21

6.22

0.01

(4010399) Spirometry for bronchospasm with prolonged evaluation after bronchodilator

2.24

1.08

1.3

1.2

—

(40768797) Stomach Pathology biopsy report

2.09

1.06

1.2

—

(3007853) Bacteria identified in Skin by Aerobe culture

1.95

1.02

2.4

1.5

—

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

1.95

1.02

1.4

2.4

—

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

0.00

1.01

0.0

1.0

—

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

196

1.75

1.01

5.8

3.4

0.00

estimate

—

(3035350) Ketones [Presence] in Urine by Test strip

196

1.75

1.01

6.0

3.4

0.00

estimate

—

(3041096) Erythrocytes [Presence] in Urine by Automated

122

1.78

1.00

4.7

2.5

0.00

estimate

—

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

105

1.80

0.99

5.4

3.5

0.00

estimate

—

(3044889) 12 lead EKG panel

258

1.79

0.97

4.4

3.5

—

(3009261) Glucose [Presence] in Urine by Test strip

198

1.72

0.96

6.0

3.5

0.00

estimate

—

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

145

1.67

0.86

5.5

3.2

0.00

estimate

—

(1761868) Lipid panel - Serum or Plasma

206

0.60

0.82

2.7

2.5

—

(3051714) Fibrin D-dimer FEU [Mass/volume] in Platelet poor plasma

1.68

0.75

2.6

1.7

0.51

1.27

mg/l

—

(36304419) Bacteria [Presence] in Urine

1.68

0.75

6.6

2.5

—

estimate

—

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

1.73

0.75

4.9

2.1

7.70

7.08

e6/l

0.06

(40760892) CBC W Ordered Manual Differential panel - Blood

1.66

0.72

2.9

4.5

—

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

1.88

0.68

2.0

1.2

—

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

154

1.53

0.64

1.8

1.9

98.14

100.71

pmol/l

—

(3005033) Fetal Nuchal fold Thickness US

0.00

0.61

0.0

1.6

—

1.25

—

(3047352) Trisomy 18 risk [Likelihood] in Fetus

0.00

0.61

0.0

1.6

—

(3043238) Trisomy 21 risk [Likelihood] in Fetus

0.00

0.60

0.0

1.7

—

(3042936) Bacteria identified in Isolate by Culture

1.65

0.60

3.4

2.1

—

(3003338) MCHC [Entitic Mass/volume] in Red Blood Cells

358

0.65

0.56

25.5

16.3

334.47

332.97

g/l

0.35

358

(3002256) Pathology report gross observation

1.55

0.46

1.8

1.2

—

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

102

0.63

0.46

2.6

1.8

—

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

1.52

0.46

1.8

2.1

—

(3000494) Fungus identified in Specimen by Culture

1.49

0.45

2.0

1.3

—

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

0.00

0.42

0.0

2.7

—

24.63

—

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

0.00

0.42

0.0

1.2

—

32.20

—

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

0.00

0.42

0.0

1.2

—

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

0.00

0.42

0.0

1.8

—

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

0.00

0.42

0.0

1.9

—

(40761536) Microorganisms panel - Urine sediment

1.53

0.42

5.0

2.5

—

(3038288) Influenza virus B RNA [Presence] in Specimen by NAA with probe detection

1.53

0.42

1.0

2.1

—

(40768793) Breast Pathology biopsy report

0.00

0.41

0.0

1.4

—

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

331

1.40

0.34

6.7

5.0

15.17

14.55

pmol/l

0.57

313

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

396

0.77

0.29

5.9

4.2

4.65

4.78

mmol/l

0.37

383

(3003031) Transferrin.carbohydrate deficient.disialo/Transferrin.total in Serum or Plasma

0.67

0.28

3.0

1.8

1.66

1.30

—

(3017143) Hepatitis C virus Ab [Presence] in Serum

0.66

0.28

2.4

1.7

—

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

1.23

0.27

6.4

4.2

—

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

0.67

0.27

2.5

2.7

—

(3016879) Cocaine [Presence] in Urine

1.39

0.24

2.0

1.2

—

(3000764) Benzodiazepines [Presence] in Urine

1.35

0.24

2.0

1.2

—

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

0.77

0.24

1.3

1.4

—

13.26

—

(3028300) Cannabinoids [Presence] in Urine

1.32

0.24

2.0

1.2

—

(3027008) Opiates [Presence] in Urine

1.32

0.24

2.0

1.2

—

(40759850) Jo-1 extractable nuclear Ab [Presence] in Serum by Immunoblot

0.00

0.21

0.0

1.1

—

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

0.00

0.21

0.0

1.1

—

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

0.00

0.21

0.0

1.0

—

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

0.00

0.21

0.0

1.2

—

(40766183) Gliadin peptide IgA Ab [Units/volume] in Serum by Immunoassay

0.00

0.21

0.0

1.2

—

0.74

—

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

0.00

0.21

0.0

1.1

—

(3023511) Choriogonadotropin [Units/volume] in Urine

0.00

0.21

0.0

1.8

—

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

0.00

0.21

0.0

1.9

—

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

0.00

0.21

0.0

1.6

—

58.49

—

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

0.00

0.20

0.0

3.6

—

40.99

—

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

121

1.23

0.18

2.1

2.2

—

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

0.74

0.17

2.3

2.6

—

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

324

1.19

0.13

3.5

3.8

—

(3026910) Gamma glutamyl transferase [Enzymatic activity/volume] in Serum or Plasma

316

0.85

0.12

6.7

3.2

89.57

36.17

u/l

0.96

307

(3000492) Spirometry study

1.10

0.10

1.6

—

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

373

0.96

0.07

4.7

3.5

1.36

1.32

mmol/l

0.11

355

(3026008) Bacteria identified in Urine by Culture

1.07

0.00

7.0

2.6

—

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

135

1.05

0.00

1.4

1.7

—

(3039443) Prostate specific Ag panel - Serum or Plasma

0.00

-0.00

0.0

1.2

—

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

0.94

-0.00

1.0

1.6

—

(3025130) Human papilloma virus identified in Specimen

0.00

-0.00

0.0

1.6

—

(3020717) Zinc [Moles/volume] in Serum or Plasma

0.00

-0.00

0.0

1.5

—

42.17

—

(3012413) Glucose [Moles/volume] in Serum or Plasma --2 hours post meal

0.00

-0.00

0.0

1.7

—

5.73

—

(4198724) Urine methamphetamine measurement

0.00

-0.00

0.0

1.2

—

(3036782) Glucose [Moles/volume] in Pleural fluid

0.00

-0.00

0.0

1.5

—

6.28

—

(3039162) Centromere protein B Ab [Units/volume] in Serum

0.00

-0.00

0.0

1.2

—

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

0.00

-0.00

0.0

1.0

—

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

0.00

-0.00

0.0

1.0

—

(42529200) Cancer Ag 15-3 [Units/volume] in Serum or Plasma by Immunoassay

0.00

-0.00

0.0

7.2

—

25.83

—

(3021901) Oxygen saturation in Capillary blood

0.00

-0.00

0.0

1.3

—

92.12

—

(3003265) Liver kidney microsomal Ab [Titer] in Serum by Immunofluorescence

0.00

-0.00

0.0

1.0

—

(3034860) Kappa light chains.free [Mass/volume] in Serum

0.00

-0.00

0.0

1.0

—

27.84

—

(1617658) Protocol used for examination of sentinel lymph nodes

0.00

-0.00

0.0

1.0

—

(3047169) Lambda light chains.free [Mass/volume] in Serum or Plasma

0.00

-0.00

0.0

1.0

—

21.10

—

(4268621) Lupus anticoagulant assay

0.00

-0.00

0.0

1.8

—

(3044941) Cell count panel - Synovial fluid

0.00

-0.00

0.0

1.4

—

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

0.00

-0.00

0.0

1.1

—

(3018333) Ribosomal P Ab [Presence] in Serum

0.00

-0.00

0.0

1.1

—

(3015916) Alpha-1-Fetoprotein [Units/volume] in Serum or Plasma

0.00

-0.00

0.0

1.8

—

9.82

—

(3015024) Glucose [Moles/volume] in Serum or Plasma --1 hour post dose glucose

0.00

-0.00

0.0

1.6

—

6.89

—

(37208534) Antinuclear antibody arbitrary concentration in serum

0.00

-0.00

0.0

1.0

—

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

0.00

-0.00

0.0

1.0

—

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

0.00

-0.00

0.0

20.0

—

2023.00

—

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

0.00

-0.00

0.0

1.1

—

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

0.00

-0.00

0.0

1.0

—

(3034603) RHD gene allele [Genotype] in Blood or Tissue by Molecular genetics method Nominal

0.00

-0.00

0.0

1.4

—

(3025018) Bordetella pertussis Ab [Titer] in Serum

0.00

-0.00

0.0

1.0

—

(42529201) Cancer Ag 19-9 [Units/volume] in Serum or Plasma by Immunoassay

0.00

-0.00

0.0

4.8

—

46.32

—

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

0.00

-0.00

0.0

1.0

—

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

0.00

-0.00

0.0

1.1

—

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

0.00

-0.00

0.0

1.0

—

111.38

—

(3038177) Helicobacter pylori Ab [Presence] in Serum

0.00

-0.00

0.0

1.2

—

(3014702) Chromogranin A [Moles/volume] in Serum or Plasma

0.00

-0.00

0.0

3.0

—

3.74

—

(4195642) Thrombophilia screening test

0.00

-0.00

0.0

1.0

—

(3008037) Lactate [Moles/volume] in Venous blood

0.00

-0.00

0.0

3.2

—

1.20

—

(3033319) Streptococcus pyogenes Ag [Presence] in Throat

1.00

-0.00

1.7

—

(4281824) Cell count and differential, peritoneal fluid

0.00

-0.00

0.0

1.2

—

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

0.00

-0.00

0.0

16.3

—

1067.14

—

(40760543) Extractable nuclear Ab [Presence] in Serum by Immunoblot

0.00

-0.00

0.0

1.0

—

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

0.00

-0.00

0.0

1.5

—

(3006442) Creatine [Moles/volume] in Serum or Plasma

0.00

-0.00

0.0

2.5

—

67.33

—

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

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

LabWAS

Mortality – FinRegistry

Association

Females

Males

Mortality risk

Relationships between endpoints