Hirsprung

Q17_HIRSPRUNG

No definition available.

Endpoint definition

↥

Report an error or suggest an improvement for this endpoint codes

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 — Q43.1 Cause of death: ICD-10 — Q43.1 2 out of 7 registries used, show all original rules.	42
4. Check minimum number of events None	42
5. Include endpoints None	42
6. Filter based on genotype QC (FinnGen only)	42

Control definitions (FinnGen only)

Control exclude: Q17_OTHER_CONGEN_MALFO_DIGES_SYSTEM1

Extra metadata

First used in FinnGen datafreeze: DF12

NAME	Q17_HIRSPRUNG
CONTROL_EXCLUDE	Q17_OTHER_CONGEN_MALFO_DIGES_SYSTEM1
CONTROL_PRECONDITIONS
CONTROL_CONDITIONS
SEX
INCLUDE
PRE_CONDITIONS
CONDITIONS
OUTPAT_ICD
OUTPAT_OPER
HD_MAINONLY
HD_ICD_10_ATC
HD_ICD_10	Q431
HD_ICD_9
HD_ICD_8
HD_ICD_10_EXCL
HD_ICD_9_EXCL
HD_ICD_8_EXCL
COD_MAINONLY
COD_ICD_10	Q431
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 Hirsprung 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-

This endpoint is excluded (different definition than used in FinnGen).

-FinnGen-

Key figures

	All	Female	Male
Number of individuals	42	19	23
Unadjusted period prevalence (%)	0.01	0.01	0.01
Median age at first event (years)	5.62	11.33	0.91

-FinnGen-

Age distribution of first events

-FinnGen-

Year distribution of first events

-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

(3051552) Clostridioides difficile toxin genes [Presence] in Stool by NAA with probe detection

11.32

10.33

2.8

1.5

—

(3007853) Bacteria identified in Skin by Aerobe culture

6.99

7.94

2.9

1.6

—

(40768797) Stomach Pathology biopsy report

6.28

6.22

1.7

1.2

—

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

18.53

6.22

2.3

1.2

—

(3026008) Bacteria identified in Urine by Culture

4.78

5.56

3.6

2.1

—

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

4.59

5.29

3.8

1.5

99.63

98.93

pmol/l

—

(3013742) Prealbumin [Mass/volume] in Serum or Plasma

5.16

4.48

10.9

5.2

0.22

0.20

g/l

0.59

(3023368) Bacteria identified in Blood by Culture

4.38

4.37

9.1

4.3

—

(3025941) Bacteria identified in Stool by Culture

9.55

4.27

2.6

1.1

—

(3020393) Adenovirus Ag [Presence] in Stool

13.65

3.88

1.8

1.6

—

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

3.77

3.86

29.0

9.1

25.54

25.10

mmol/l

0.21

(3022145) Colonoscopy Study observation

4.30

3.62

1.6

1.3

—

(3001122) Ferritin [Mass/volume] in Serum or Plasma

122

3.26

3.43

7.5

2.8

56.95

67.32

ug/l

0.33

114

(3000991) Gas panel - Venous blood

3.25

2.89

31.4

13.7

—

(4035726)

5.37

2.72

1.6

1.9

—

(3037121) Protein [Mass/volume] in Urine

5.02

2.60

7.1

12.4

0.12

0.52

g/l

—

(3042936) Bacteria identified in Isolate by Culture

3.95

2.57

2.2

1.7

—

(3022313) Gas panel - Capillary blood

3.04

2.49

19.2

5.7

—

(3024561) Albumin [Mass/volume] in Serum or Plasma

114

2.68

2.47

25.2

7.3

34.78

38.03

g/l

1.40

104

(3012336) Haptoglobin [Mass/volume] in Serum or Plasma

6.90

2.44

1.2

1.9

2.04

1.25

g/l

—

(3013707) Erythrocyte sedimentation rate by Westergren method

220

2.91

2.28

6.8

4.2

10.78

8.38

mm/h

0.59

209

(3042194) Human metapneumovirus RNA [Presence] in Specimen by NAA with probe detection

6.13

2.28

2.0

2.1

—

(3040853) Adenovirus DNA [Identifier] in Specimen by NAA with probe detection

6.13

2.28

1.6

2.1

—

(3006418) Campylobacter sp identified in Tissue by Organism specific culture

5.50

2.13

1.8

1.3

—

(42529406) Shigella sp [Presence] in Stool by Culture

5.50

2.13

1.8

1.3

—

(3014765) Yersinia sp identified in Stool by Organism specific culture

5.50

2.13

1.8

1.3

—

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

2.68

2.11

12.6

3.4

2.88

2.36

mg/l

0.46

(40768804) Tissue Pathology biopsy report

2.58

2.10

3.3

1.9

—

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

4.19

2.01

3.3

2.7

—

(40761535) Cells panel - Urine sediment

4.99

2.00

14.0

3.7

—

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

2.99

1.94

3.0

1.6

—

(3023323) Follitropin [Units/volume] in Serum or Plasma

3.93

1.91

1.8

2.1

20.85

11.77

iu/l

—

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

4.57

1.88

3.8

2.6

—

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

4.57

1.88

3.8

2.6

—

(3016251) Hemoglobin.gastrointestinal [Presence] in Stool

4.21

1.77

5.8

1.8

—

(3002256) Pathology report gross observation

3.02

1.66

1.3

1.1

—

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

3.32

1.64

5.5

7.3

—

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

2.90

1.59

3.1

2.2

—

(3026989) Triiodothyronine (T3) Free [Moles/volume] in Serum or Plasma

3.63

1.57

2.6

2.4

4.31

5.20

pmol/l

—

(3022250) Lactate dehydrogenase [Enzymatic activity/volume] in Serum or Plasma by Lactate to pyruvate reaction

3.15

1.57

2.3

7.5

187.67

273.10

u/l

—

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

3.40

1.48

1.0

1.3

—

(3015736) pH of Urine

111

2.09

1.43

6.2

3.2

—

(3009214) Lutropin [Units/volume] in Serum or Plasma

2.87

1.42

2.0

1.9

11.02

3.59

u/l

—

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

105

2.04

1.33

9.4

3.8

—

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

2.18

1.30

28.0

10.0

1.16

1.35

mmol/l

1.40

(3043924) Respiratory syncytial virus RNA [Identifier] in Specimen by NAA with probe detection

2.59

1.19

2.0

1.5

—

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

2.59

1.19

2.0

1.6

—

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

2.21

1.18

2.4

1.5

—

(40761536) Microorganisms panel - Urine sediment

2.56

1.12

6.0

2.5

—

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

2.56

1.12

4.0

1.9

—

(3021879) Hepatitis B virus core Ab [Presence] in Serum

2.34

1.12

1.3

1.5

—

(40758558) Short blood count panel - Blood

102

1.92

1.12

14.4

10.6

—

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

139

1.84

1.07

6.8

3.2

0.00

estimate

—

(3037522) Nuclear Ab [Titer] in Serum

2.20

1.06

1.1

1.8

—

575.00

—

(3000492) Spirometry study

0.00

1.01

0.0

1.6

—

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

1.93

0.98

7.8

3.5

—

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

142

1.78

0.98

6.8

3.1

0.00

estimate

—

(3000515) Antithrombin actual/normal in Platelet poor plasma by Chromogenic method

2.33

0.96

7.0

8.9

98.00

95.46

—

(3023520) Reticulocytes [#/volume] in Blood

2.33

0.96

3.2

5.1

47.93

72.49

e9/l

—

(3037467) Urinalysis macro (dipstick) panel - Urine

211

1.78

0.94

9.3

3.6

—

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

1.87

0.90

3.1

3.0

7.20

23.60

ng/l

—

(1761868) Lipid panel - Serum or Plasma

1.81

0.90

1.7

2.0

—

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

101

1.75

0.85

8.1

2.8

—

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

101

1.75

0.85

2.5

2.0

—

(3000494) Fungus identified in Specimen by Culture

2.02

0.85

1.3

1.7

—

(3010726) Horse dander IgE Ab [Units/volume] in Serum

0.00

0.82

0.0

1.1

—

2.15

—

(3023351) European house dust mite IgE Ab [Units/volume] in Serum

0.00

0.82

0.0

1.2

—

2.81

—

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

1.78

0.79

1.7

2.6

—

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

1.81

0.78

6.2

2.7

—

(3019150) Specific gravity of Urine by Refractometry

1.84

0.77

9.6

3.3

—

1.01

—

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

1.75

0.76

2.4

1.6

—

(3004716) Salmonella sp identified in Stool by Organism specific culture

2.13

0.75

2.2

1.2

—

(42870588) Differential panel, method unspecified - Blood

132

1.64

0.74

16.3

8.8

—

(3018010) Neutrophils/100 leukocytes in Blood

180

1.61

0.73

16.5

8.0

55.87

52.17

0.77

173

(3044640) Blood type and Crossmatch panel - Blood

1.70

0.69

6.8

2.7

—

(3044889) 12 lead EKG panel

163

1.58

0.67

3.8

2.9

—

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

1.74

0.66

1.8

1.4

—

(3002109) Cholesterol in LDL/Cholesterol in HDL [Mass Ratio] in Serum or Plasma

1.82

0.66

1.0

1.3

—

(36660697) Celiac disease serology panel - Serum

1.70

0.65

1.1

—

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

1.69

0.64

1.6

2.3

—

(3008401) Mugwort IgE Ab [Units/volume] in Serum

0.00

0.62

0.0

1.1

—

0.86

—

(3002030) Lymphocytes/100 leukocytes in Blood

185

1.54

0.61

17.3

7.9

31.74

32.22

0.07

178

(3041096) Erythrocytes [Presence] in Urine by Automated

1.66

0.61

3.7

2.3

—

(36304419) Bacteria [Presence] in Urine

1.60

0.60

5.0

3.5

—

(3020779) Urea [Moles/volume] in Serum or Plasma

1.72

0.58

37.3

14.6

5.58

5.31

mmol/l

—

(3022096) Basophils/100 leukocytes in Blood

170

1.47

0.52

18.6

8.2

0.65

0.67

0.05

163

(3025839) Triglyceride [Moles/volume] in Serum or Plasma

1.58

0.52

3.9

1.5

1.05

1.24

mmol/l

0.67

(3019069) Monocytes/100 leukocytes in Blood

180

1.47

0.51

18.0

8.1

8.58

8.32

0.23

172

(3019050) Tissue transglutaminase IgA Ab [Units/volume] in Serum

123

1.49

0.51

1.4

1.94

0.55

u/ml

—

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

125

1.45

0.46

7.8

3.9

—

(3023511) Choriogonadotropin [Units/volume] in Urine

0.00

0.42

0.0

1.1

—

(3022621) pH of Urine by Test strip

0.00

0.42

0.0

1.8

—

(3010521) Mycoplasma pneumoniae IgM Ab [Presence] in Serum by Immunoassay

0.00

0.41

0.0

1.1

—

(40764999) Glomerular filtration rate/1.73 sq M.predicted [Volume Rate/Area] in Serum, Plasma or Blood by Creatinine-based formula (CKD-EPI)

236

1.40

0.40

21.2

6.2

103.90

96.71

ml/min/173m2

0.80

180

(3020460) C reactive protein [Mass/volume] in Serum or Plasma

343

1.66

0.40

33.1

9.1

27.82

18.77

mg/l

1.03

243

(3013826) Glucose [Moles/volume] in Serum or Plasma

167

1.38

0.39

25.2

5.9

5.84

6.16

mmol/l

0.55

148

(3006504) Eosinophils/100 leukocytes in Blood

177

1.37

0.38

18.7

8.0

2.03

3.47

3.05

169

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

1.50

0.37

1.0

1.1

—

(3018677) aPTT in Platelet poor plasma by Coagulation assay

1.35

0.32

7.4

7.8

30.00

30.21

—

(3019832) Treponema pallidum Ab [Presence] in Serum

1.38

0.31

1.6

—

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

324

0.74

0.28

3.7

—

(46235831) Pregnancy associated plasma protein A [Multiple of the median] adjusted in Serum or Plasma

0.00

0.21

0.0

1.5

—

(3049207) Fetal Trisomy 21 risk [Likelihood] Based on maternal age

0.00

0.21

0.0

1.5

—

(3023410) Appearance of Cerebral spinal fluid

0.00

0.21

0.0

5.1

—

(3043238) Trisomy 21 risk [Likelihood] in Fetus

0.00

0.21

0.0

1.5

—

(3008714) Choriogonadotropin [Multiple of the median] adjusted in Serum or Plasma

0.00

0.21

0.0

1.5

—

(1175715) Chlamydophila pneumoniae IgM Ab [Presence] in Serum by Immunoassay

0.00

0.21

0.0

1.2

—

(3005136) Cladosporium herbarum IgE Ab [Units/volume] in Serum

0.00

0.21

0.0

1.1

—

1.29

—

(40763531) Fetal Nuchal fold [Multiple of the median] Thickness adjusted for maternal weight

0.00

0.21

0.0

1.5

—

(3027450) Sjogrens syndrome-B extractable nuclear Ab [Units/volume] in Serum

0.00

0.21

0.0

1.1

—

(3047352) Trisomy 18 risk [Likelihood] in Fetus

0.00

0.21

0.0

1.4

—

(3005033) Fetal Nuchal fold Thickness US

0.00

0.21

0.0

1.4

—

(3016543) Leukocytes [#/volume] in Cerebral spinal fluid

0.00

0.21

0.0

4.8

—

4.17

—

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

0.00

0.21

0.0

4.8

—

3.52

—

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

0.00

0.21

0.0

4.8

—

543.50

—

(3044290) Cell count panel - Cerebral spinal fluid

0.00

0.21

0.0

4.8

—

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

0.00

0.21

0.0

1.2

—

31.81

—

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

0.00

0.21

0.0

4.5

—

630.85

—

(3014133) Dog dander IgE Ab [Units/volume] in Serum

0.00

0.21

0.0

1.1

—

1.42

—

(3019145) Choriogonadotropin.beta subunit free [Mass/volume] in Serum or Plasma

0.00

0.21

0.0

1.5

—

(36033641) SARS-CoV-2 (COVID-19) Ag [Presence] in Upper respiratory specimen by Rapid immunoassay

0.00

0.20

0.0

1.4

—

(40760892) CBC W Ordered Manual Differential panel - Blood

1.22

0.19

21.6

5.4

—

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

104

0.83

0.15

2.0

1.6

—

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

136

0.84

0.13

2.8

1.7

—

(3018251) Fasting glucose [Moles/volume] in Serum or Plasma

246

1.04

0.00

5.2

3.2

5.57

5.52

mmol/l

0.15

229

(3013512) EKG study

0.98

0.00

2.2

2.5

—

(40762119) U1 small nuclear ribonucleoprotein 70kD Ab [Units/volume] in Serum

0.00

0.0

1.0

—

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

0.00

0.0

1.0

—

(3032773) Endomysium IgG Ab [Titer] in Serum

0.00

0.0

1.1

—

(42529215) Follitropin [Units/volume] in Serum or Plasma by Immunoassay

0.00

0.0

1.4

—

5.48

—

(3002670) Multiple inhalant allergen IgE Ab [Units/volume] in Serum

0.00

0.0

2.6

—

(3006999) Ribonucleoprotein extractable nuclear Ab [Units/volume] in Serum

0.00

0.0

1.1

—

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

0.00

0.0

1.0

—

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

0.00

0.0

1.0

—

(3004588) Protein electrophoresis panel - Serum or Plasma

0.00

0.0

8.2

—

(3002823) Mycoplasma pneumoniae IgG Ab [Units/volume] in Cerebral spinal fluid

0.00

0.0

1.0

—

(3022411) Androstenedione [Moles/volume] in Serum or Plasma

0.00

0.0

1.0

—

7.96

—

(40761849) Varicella zoster virus IgG Ab [Units/volume] in Cerebral spinal fluid by Immunoassay

0.00

0.0

1.0

—

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

0.00

0.0

1.3

—

112.43

—

(3024474) Albumin [Mass/volume] in Cerebral spinal fluid

0.00

0.0

1.0

—

452.60

—

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

0.00

0.0

1.0

—

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

0.00

0.0

1.0

—

(3035933) Granulocytes/100 leukocytes in Blood

0.00

0.0

1.3

—

(3033319) Streptococcus pyogenes Ag [Presence] in Throat

0.93

0.00

2.5

1.6

—

(3044212) Herpes simplex virus 1+2 IgM Ab [Presence] in Cerebral spinal fluid

0.00

0.0

1.0

—

(3016273) Islet cell 512 Ab [Units/volume] in Serum

0.00

0.0

1.4

—

(3043109) Cytology report of Tissue fine needle aspirate Cyto stain

0.00

0.0

1.0

—

(4062490)

0.00

0.0

1.0

—

(3019539) Treponema pallidum Ab [Titer] in Serum by Hemagglutination

0.00

0.0

1.5

—

(3027135) IgG subclass 1 [Mass/volume] in Serum

0.00

0.0

1.0

—

4.87

—

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

0.00

0.0

1.0

—

(3016701) Glucose [Moles/volume] in Serum or Plasma --2 hours post dose glucose

0.00

0.0

2.4

—

6.50

—

(3014973) Borrelia burgdorferi IgM Ab [Units/volume] in Cerebral spinal fluid

0.00

0.0

1.0

—

(3010375) cycloSPORINE [Mass/volume] in Blood

0.00

0.0

41.5

—

188.00

—

(3046896) Herpes virus 6 DNA [Presence] in Cerebral spinal fluid by NAA with probe detection

0.00

0.0

1.0

—

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

0.00

0.0

1.3

—

93.00

—

(3025149) Bordetella pertussis IgA Ab [Units/volume] in Serum

0.00

0.0

1.0

—

(42868544) Hantavirus puumala IgM Ab [Presence] in Serum or Plasma by Immunofluorescence

0.00

0.0

1.0

—

(3007695) Herpes simplex virus 2 IgG Ab [Presence] in Cerebral spinal fluid

0.00

0.0

1.0

—

(3031072) Herpes simplex virus 1 IgG Ab [Presence] in Cerebral spinal fluid

0.00

0.0

1.0

—

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

0.00

0.0

1.0

—

(3034368) Herpes virus 6 IgM Ab [Presence] in Cerebral spinal fluid

0.00

0.0

1.0

—

(3030429) Borrelia sp DNA [Identifier] in Specimen by NAA with probe detection

0.00

0.0

1.0

—

(3036086) Jo-1 extractable nuclear Ab [Units/volume] in Serum by Immunoassay

0.00

0.0

1.1

—

(3024139) IgG subclass 3 [Mass/volume] in Serum

0.00

0.0

1.0

—

0.48

—

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

0.00

0.0

1.0

—

(3025018) Bordetella pertussis Ab [Titer] in Serum

0.00

0.0

1.0

—

(3025245) SCL-70 extractable nuclear Ab [Units/volume] in Serum by Immunoassay

0.00

0.0

1.1

—

(3034988) Calcium [Moles/volume] in Capillary blood

0.00

0.0

1.5

—

1.19

—

(3039602) Calcium.ionized [Moles/volume] adjusted to pH 7.4 in Capillary blood

0.00

0.0

1.8

—

1.18

—

(3016894) Varicella zoster virus DNA [Presence] in Cerebral spinal fluid by NAA with probe detection

0.00

0.0

1.0

—

(3010380) Borrelia burgdorferi IgG Ab [Units/volume] in Cerebral spinal fluid

0.00

0.0

1.0

—

(3001684) Respiratory syncytial virus Ag [Presence] in Specimen

0.00

0.0

1.0

—

(40759883) Oligoclonal Bands IgG [Presence] in Cerebral spinal fluid by Isoelectric focusing

0.00

0.0

1.0

—

(3016921) Smith extractable nuclear Ab [Units/volume] in Serum

0.00

0.0

1.1

—

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

0.00

0.0

1.2

—

(3020491) Glucose [Moles/volume] in Blood

0.00

0.0

1.2

—

5.50

—

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

0.00

0.0

1.0

—

(3023939) Sjogrens syndrome-A extractable nuclear Ab [Units/volume] in Serum

0.00

0.0

1.0

—

(3023420) DNA double strand Ab [Units/volume] in Serum

0.00

0.0

1.4

—

(3002434) Lupus erythematosus deoxynucleoproteins IgG Ab [Units/volume] in Serum by Immunoassay

0.00

0.0

1.4

—

(3011897) Casein IgE Ab [Units/volume] in Serum

0.00

0.0

1.0

—

(3016914) Bacteria identified in Cerebral spinal fluid by Culture

0.00

0.0

1.0

—

(3011166) Borrelia burgdorferi Ab [Presence] in Cerebral spinal fluid

0.00

0.0

1.0

—

(42868421) Varicella zoster virus IgM Ab [Presence] in Cerebral spinal fluid by Immunoassay

0.00

0.0

1.0

—

(3049717) Cytology report of Urine Cyto stain

0.00

0.0

1.4

—

(3022914) Cancer Ag 19-9 [Units/volume] in Serum or Plasma

0.00

0.0

6.8

—

25.67

—

(3033386) Bacteria [Presence] in Cerebral spinal fluid by Light microscopy

0.00

0.0

1.0

—

(3012494) Peanut IgE Ab [Units/volume] in Serum

0.00

0.0

1.2

—

5.52

—

(4027681)

0.00

0.0

1.2

—

(3015171) Extractable nuclear Ab [Units/volume] in Serum

0.00

0.0

1.6

—

(3028192) IgG subclass 2 [Mass/volume] in Serum

0.00

0.0

1.0

—

2.00

—

(4268621)

0.00

0.0

1.8

—

Mortality – FinRegistry

↥

This endpoint is excluded (different definition than used in FinnGen).

Relationships between endpoints

↥

Index endpoint: Q17_HIRSPRUNG – Hirsprung

GWS hits: -

This endpoint is excluded (different definition than used in FinnGen).

≡ Risteys

FG R12 + FR

FinnGen R11 + FinRegistry

FinnGen R10 + FinRegistry

FinnGen R10

FinnGen R9

FinnGen R8

FinnGen R7

FinnGen R6

FinnGen R5

FinnGen R4

FinnGen R3

Hirsprung

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)

All original rules

Similar endpoints

Case counts by codes

Upset plot

Case counts by code for Hirsprung (Q17_HIRSPRUNG)

Summary Statistics

-FinRegistry-

-FinnGen-

Key figures

-FinnGen-

Age distribution of first events

-FinnGen-

Year distribution of first events

-FinnGen-

Cumulative Incidence Function

CodeWAS (R11)

LabWAS

Mortality – FinRegistry

Relationships between endpoints