Cystic fibrosis with intestinal manifestations

E4_CYSTFIBRO_INT

obsolete_cystic fibrosis: ['A congenital metabolic disorder affecting the exocrine glands, inherited as an autosomal trait. The secretions of exocrine glands are abnormal, resulting in excessively viscid mucus production which causes obstruction of passageways (including pancreatic and bile ducts, intestines, and bronchi). The sweat sodium and chloride content are increased. Symptoms usually appear in childhood and include meconium ileus, poor growth despite good appetite, malabsorption and foul bulky stools, chronic bronchitis with cough, recurrent pneumonia, bronchiectasis, emphysema, clubbing of the fingers, and salt depletion in hot weather. -- 2003', 'A congenital metabolic disorder affecting the exocrine glands, inherited as an autosomal trait. The secretions of exocrine glands are abnormal, resulting in excessively viscid mucus production which causes obstruction of passageways (including pancreatic and bile ducts, intestines, and bronchi). The sweat sodium and chloride content are increased. Symptoms usually appear in childhood and include meconium ileus, poor growth despite good appetite, malabsorption and foul bulky stools, chronic bronchitis with cough, recurrent pneumonia, bronchiectasis, emphysema, clubbing of the fingers, and salt depletion in hot weather.']

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 — E84.1 Cause of death: ICD-10 — E84.1 KELA reimbursements: KELA codes — ANY KELA reimbursements: ICD-10 — E84 3 out of 7 registries used, show all original rules.	53
4. Check minimum number of events None	53
5. Include endpoints None	53
6. Filter based on genotype QC (FinnGen only)	53

Control definitions (FinnGen only)

Control exclude: E4_METABOLIA

Extra metadata

Level in the ICD hierarchy: 4
First used in FinnGen datafreeze: DF2
Parent code in ICD-10: E84
Name in latin: Fibrosis cystica cum manifestationibus intestinalibus

NAME	E4_CYSTFIBRO_INT
CONTROL_EXCLUDE	E4_METABOLIA
CONTROL_PRECONDITIONS
CONTROL_CONDITIONS
SEX
INCLUDE
PRE_CONDITIONS
CONDITIONS
OUTPAT_ICD
OUTPAT_OPER
HD_MAINONLY
HD_ICD_10_ATC
HD_ICD_10	E841
HD_ICD_9	$!$	The FinnGen clinical team has checked and no code can be used for this rule.
HD_ICD_8	$!$	The FinnGen clinical team has checked and no code can be used for this rule.
HD_ICD_10_EXCL
HD_ICD_9_EXCL
HD_ICD_8_EXCL
COD_MAINONLY
COD_ICD_10	E841
COD_ICD_9	$!$	The FinnGen clinical team has checked and no code can be used for this rule.
COD_ICD_8	$!$	The FinnGen clinical team has checked and no code can be used for this rule.
COD_ICD_10_EXCL
COD_ICD_9_EXCL
COD_ICD_8_EXCL
OPER_NOM
OPER_HL
OPER_HP1
OPER_HP2
KELA_REIMB	ANY
KELA_REIMB_ICD	E84
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 Cystic fibrosis with intestinal manifestations based on the number of shared cases.

Similar with more cases:

Similar with less cases:

R07AX Other respiratory system products

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	304	141	162
Only index persons	241	119	122
Unadjusted period prevalence (%)
Whole population	0.00	0.00	0.00
Only index persons	0.00	0.00	0.00
Median age at first event (years)
Whole population	51.09	55.07	47.45
Only index persons	49.30	51.07	47.57

-FinnGen-

Key figures

	All	Female	Male
Number of individuals	53	30	23
Unadjusted period prevalence (%)	0.01	0.01	0.01
Median age at first event (years)	19.07	18.11	20.33

-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

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.

No data available

LabWAS

↥

(ID) Name

N Cases

N Controls

-log₁₀(p)

cases

controls

cases

controls

unit

-log₁₀(p)

N cases

N controls

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

61.54

47.05

5.8

2.1

91.0

95.6

0.30

(3023419) Bacteria identified in Sputum by Culture

+∞

32.71

23.5

0.0

—

(3000494) Fungus identified in Specimen by Culture

21.99

30.30

15.5

1.3

—

(4010399)

20.98

27.44

3.7

1.2

—

(3019250) Coagulation factor VIII activity actual/normal in Platelet poor plasma by Coagulation assay

87.74

27.27

5.8

3.0

166.5

150.6

—

(3016407) Fibrinogen [Mass/volume] in Platelet poor plasma by Coagulation assay

73.75

27.26

5.6

1.8

3.4

3.3

g/l

—

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

98.39

24.94

6.5

1.0

—

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

15.64

22.72

10.3

6.2

103.2

105.0

mmol/l

0.65

(40763571) Iron/Transferrin [Ratio] in Serum or Plasma

13.35

20.75

4.3

2.0

20.3

22.8

0.34

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

13.45

20.37

4.7

1.4

—

(3042936) Bacteria identified in Isolate by Culture

12.68

20.18

5.7

1.9

—

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

12.68

20.18

5.8

1.8

—

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

46.97

20.10

5.0

1.4

—

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

46.97

20.10

4.3

1.4

—

(3009595) Pneumocystis jiroveci DNA [Presence] in Specimen by NAA with probe detection

+∞

20.05

4.3

0.0

—

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

12.83

19.35

4.4

1.4

—

(3030692) Respiratory virus DNA+RNA [Identifier] in Specimen by NAA with probe detection

62.29

17.88

4.1

1.2

—

(3002482) Mycoplasma pneumoniae DNA [Presence] in Specimen by NAA with probe detection

62.29

17.88

4.8

1.0

—

(40771025) 25-Hydroxyvitamin D3+25-Hydroxyvitamin D2 [Moles/volume] in Serum or Plasma

149

19.93

17.50

9.6

2.3

76.4

73.7

nmol/l

0.28

132

(3007853) Bacteria identified in Skin by Aerobe culture

11.24

17.13

4.8

1.6

—

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

10.78

17.05

5.0

1.5

1.3

0.7

mg/l

0.41

(3000492) Spirometry study

10.91

17.00

4.3

1.2

—

(42870588) Differential panel, method unspecified - Blood

130

14.96

16.38

29.0

4.6

—

(40765161) Human bocavirus DNA [Presence] in Specimen by NAA with probe detection

38.85

16.19

4.4

1.5

—

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

143

15.14

15.96

15.2

3.7

35.7

37.0

g/l

0.99

135

(43055120) Cytomegalovirus DNA [Units/volume] (viral load) in Serum or Plasma by NAA with probe detection

34.53

15.70

26.3

3.1

107.4

—

iu/ml

—

(3018418) pH of Serum or Plasma

9.57

15.22

12.4

2.4

7.4

0.51

(3023368) Bacteria identified in Blood by Culture

9.10

15.05

8.2

4.3

—

(3042596) Human coronavirus RNA [Presence] in Specimen by NAA with probe detection

48.63

14.57

4.4

1.2

—

(3008536) Aspergillus sp Ab [Presence] in Serum

+∞

14.18

1.3

0.0

—

(3037692) Legionella sp identified in Specimen by Organism specific culture

+∞

14.18

4.5

0.0

—

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

183

14.79

14.06

28.2

5.3

10.1

11.0

umol/l

0.28

168

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

141

10.53

13.93

17.0

4.0

1.2

mmol/l

0.86

125

(3016431) Calcium.ionized [Moles/volume] adjusted to pH 7.4 in Serum or Plasma

156

11.67

13.61

22.3

4.4

1.2

mmol/l

1.16

131

(3006695) Toxoplasma gondii DNA [Presence] in Specimen by NAA with probe detection

+∞

13.03

4.8

0.0

—

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

9.53

11.26

2.8

1.7

—

(3032080) INR in Blood by Coagulation assay

117

6.86

10.94

6.4

3.0

1.1

1.0

inr

0.34

(3002179) Metamyelocytes/100 leukocytes in Blood

8.28

10.90

9.8

3.7

0.8

0.3

—

(3025023) Rhinovirus RNA [Presence] in Specimen by NAA with probe detection

33.59

10.39

2.8

1.6

—

(3025159) Blasts/100 leukocytes in Blood

7.87

10.01

10.4

3.9

0.0

—

(3017181) Myelocytes/100 leukocytes in Blood

7.50

9.97

10.3

3.6

0.8

0.6

—

(40769539) Bacteria identified based on 16S rRNA gene [Identifier] in Specimen by Sequencing

27.94

9.92

3.5

2.0

—

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

210

8.54

9.90

15.5

3.7

7.3

6.3

mmol/l

1.41

185

(3016881) Enterovirus RNA [Presence] in Specimen by NAA with probe detection

23.94

9.49

2.8

1.4

—

(3021440) Promyelocytes/100 leukocytes in Blood

7.35

9.40

10.8

3.7

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

9.24

9.29

2.1

1.7

—

(3021589) Normoblasts [#/volume] in Blood

186

7.06

9.06

32.6

7.1

0.0

e9/l

0.00

152

(40757373) Influenza virus identified in Isolate

+∞

8.55

4.3

0.0

—

(3012516) Albumin [Mass/volume] in Urine

5.19

8.08

3.8

2.7

169.1

132.2

mg/l

0.12

(40758558) Short blood count panel - Blood

115

5.08

7.99

20.1

4.9

—

(3019060) Gas panel - Arterial blood

8.99

7.87

1.8

3.7

—

(3042733) HLA Ab [Presence] in Serum

+∞

7.45

2.4

0.0

—

(3036432) Mycobacterium tuberculosis genotype [Identifier] in Isolate

+∞

7.45

24.6

0.0

—

(36304419) Bacteria [Presence] in Urine

109

4.67

7.19

7.3

2.5

—

(3007164) IgA [Mass/volume] in Serum or Plasma

111

4.56

6.98

3.2

1.4

2.8

2.0

g/l

1.32

(3020682) Albumin/Creatinine [Ratio] in Urine

4.61

6.91

4.8

3.3

27.0

19.5

mg/mmol

0.16

(3027653) Mycophenolate [Mass/volume] in Serum or Plasma

+∞

6.36

4.8

0.0

2.0

—

mg/l

—

(3012544) pH of Venous blood

5.59

6.20

8.6

3.8

—

(4306422)

17.66

6.15

1.2

1.5

—

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

132

3.93

5.69

9.1

3.1

—

(3020961) Endomysium IgA Ab [Titer] in Serum

6.61

5.55

1.4

1.3

—

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

294

5.26

5.42

10.9

2.5

52.3

42.2

u/l

0.44

278

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

+∞

5.28

1.0

0.0

—

(3024932) HLA-DR beta [Type]

+∞

5.28

1.0

0.0

—

(3024471) HLA-A [Type]

+∞

5.28

1.0

0.0

—

(36659890) Mycobacterial identification panel - Specimen by Molecular genetics method

+∞

5.28

7.0

0.0

—

(40768804) Tissue Pathology biopsy report

145

3.74

5.27

3.7

2.0

—

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

15.36

5.26

2.4

1.3

—

(3030905) Polymorphonuclear cells [#/volume] in Blood

11.73

5.25

6.6

4.9

5.7

2.6

e9/l

—

(3032035) Polymorphonuclear cells/100 leukocytes in Blood

11.73

5.25

6.4

5.0

58.4

50.9

—

(3004410) Hemoglobin A1c/Hemoglobin.total in Blood

330

5.81

4.84

14.0

4.2

42.2

37.9

mmol/mol

1.86

307

(3026782) Osmolality of Urine

3.73

4.75

6.1

2.2

518.5

583.1

mosm/kgh2o

0.70

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

4.88

4.73

1.2

—

(4035726)

5.08

4.61

1.7

1.4

—

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

3.59

4.59

3.0

3.4

—

(40768797) Stomach Pathology biopsy report

4.28

4.55

1.1

1.2

—

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

10.20

4.45

1.1

1.3

—

(3000991) Gas panel - Venous blood

4.88

4.41

18.5

5.2

—

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

7.49

4.18

1.2

1.1

—

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

3.97

4.13

1.8

—

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

3.31

3.98

6.0

2.1

6.1

6.0

e6/l

0.01

(3012220) Varicella zoster virus IgM Ab [Presence] in Serum by Immunoassay

9.85

3.90

1.1

1.3

—

(3028369) Herpes simplex virus 1+2 DNA [Presence] in Specimen by NAA with probe detection

13.27

3.86

3.0

1.0

—

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

13.27

3.86

2.8

1.8

2.3

1.9

u/ml

—

(3025941) Bacteria identified in Stool by Culture

6.53

3.85

1.1

1.4

—

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

7.62

3.83

1.5

1.0

—

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

7.62

3.83

1.5

1.0

—

(40760892) CBC W Ordered Manual Differential panel - Blood

105

3.10

3.81

20.8

4.2

—

(3014148) Varicella zoster virus Ab [Titer] in Serum

8.74

3.68

1.1

1.4

—

(1616796) Gas panel - Central venous blood

11.05

3.59

2.8

1.8

—

(3034770) Mitochondria Ab [Titer] in Serum

11.05

3.59

1.8

1.5

—

(3007566) Smooth muscle Ab [Titer] in Serum

11.05

3.59

1.8

1.5

—

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

5.79

3.55

14.3

4.2

26.5

25.5

mmol/l

—

(3044889) 12 lead EKG panel

246

3.22

3.55

10.5

3.2

—

(3052851) Hemolysis interference index of Serum or Plasma

9.46

3.35

1.5

2.6

—

(40762366) Oxygen capacity [Volume Fraction] in Arterial blood

7.13

3.30

13.4

6.4

—

(586526) SARS-CoV-2 (COVID-19) RNA [Presence] in Nasopharynx by NAA with probe detection

5.19

3.28

1.9

1.2

—

(4268621)

8.27

3.14

2.3

2.5

—

(3034426) Prothrombin time (PT)

10.84

3.04

1.2

1.4

—

(3044640) Blood type and Crossmatch panel - Blood

110

2.71

2.97

4.2

2.4

—

(3019309) Folate [Moles/volume] in Red Blood Cells

3.19

2.87

1.9

1.4

1274.0

1196.8

nmol/l

—

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

113

2.62

2.79

4.3

2.7

21.9

27.2

ng/l

0.35

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

5.20

2.69

9.9

3.3

24.8

24.2

mmol/l

—

(3024891) Influenza virus A+B Ag [Presence] in Specimen

5.99

2.62

1.0

1.2

—

(37019628) Gastrointestinal bacterial pathogens panel - Stool by NAA with probe detection

7.73

2.60

1.6

—

(3022145) Colonoscopy Study observation

3.39

2.57

1.2

1.5

—

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

125

2.48

2.56

2.8

1.7

76.8

95.3

pmol/l

0.91

(3002385) Erythrocyte distribution width [Ratio]

381

3.75

2.55

59.2

12.0

14.1

13.3

2.03

375

(3022313) Gas panel - Capillary blood

4.57

2.45

12.3

3.4

—

(3024354) Oxygen [Partial pressure] in Venous blood

3.65

2.44

8.2

3.9

4.7

4.3

kpa

—

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

6.75

2.42

2.4

1.1

—

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

6.75

2.42

1.6

1.0

—

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

6.75

2.42

1.6

1.0

—

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

2.58

2.40

4.6

2.4

—

(3021337) Troponin I.cardiac [Mass/volume] in Serum or Plasma

2.68

2.38

2.5

1839.5

245.6

ng/l

—

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

180

2.35

2.36

5.4

3.1

0.0

estimate

—

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

319

2.84

2.36

5.3

3.4

14.2

14.5

pmol/l

0.38

293

(3015736) pH of Urine

141

2.28

2.18

4.2

3.0

—

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

185

2.25

2.16

8.9

4.1

0.0

estimate

—

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

5.39

2.12

1.6

1.1

—

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

3.44

2.11

3.9

3.1

—

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

189

2.18

2.01

5.7

3.2

0.0

estimate

—

(3021584) Pregnancy associated plasma protein A [Units/volume] in Serum or Plasma

0.00

1.81

0.0

1.5

—

(3026008) Bacteria identified in Urine by Culture

110

2.13

1.73

3.2

2.2

—

(3004588) Protein electrophoresis panel - Serum or Plasma

3.82

1.65

1.0

3.5

—

(46235759) Influenza virus B RNA [Presence] in Nasopharynx by NAA with probe detection

3.82

1.65

9.8

2.8

—

(3044254) Respiratory syncytial virus RNA [Presence] in Specimen by NAA with probe detection

3.56

1.56

8.0

2.3

—

(3002256) Pathology report gross observation

2.64

1.55

1.3

—

(3037467) Urinalysis macro (dipstick) panel - Urine

272

2.01

1.52

13.4

3.6

—

(3003785) Carcinoembryonic Ag [Mass/volume] in Serum or Plasma

2.72

1.51

3.0

4.3

2.2

9.1

ug/l

—

(40768443) Skin Pathology biopsy report

3.34

1.47

1.2

1.3

—

(3017766) Complement C4 [Mass/volume] in Serum or Plasma

3.13

1.39

2.6

1.2

0.3

0.2

g/l

—

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

374

2.04

1.25

4.1

3.6

—

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

1.99

1.24

2.3

1.6

—

(3041096) Erythrocytes [Presence] in Urine by Automated

106

1.89

1.22

6.0

2.5

—

(3050129) First trimester maternal screen panel - Serum or Plasma

0.00

1.21

0.0

1.4

—

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

142

1.79

1.17

5.6

3.2

—

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

181

1.72

1.09

7.4

3.7

—

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

1.96

1.03

2.1

1.6

—

(40761536) Microorganisms panel - Urine sediment

2.08

1.01

6.1

2.9

—

(3008898) HLA-B27 [Presence]

0.00

1.01

0.0

1.1

—

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

145

0.54

0.85

1.7

1.8

—

(3043238) Trisomy 21 risk [Likelihood] in Fetus

0.00

0.81

0.0

1.6

—

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

0.00

0.81

0.0

1.5

—

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

0.00

0.81

0.0

1.5

—

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

0.00

0.81

0.0

1.5

—

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

0.00

0.81

0.0

1.5

—

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

0.00

0.81

0.0

1.4

—

(3001019) Free T4 and TSH panel - Serum or Plasma

0.00

0.81

0.0

2.0

—

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

0.00

0.81

0.0

1.6

—

(36660697) Celiac disease serology panel - Serum

1.76

0.79

1.6

1.1

—

(3019225) pH of Specimen

2.19

0.77

16.8

4.1

—

(3027944) Amphetamines [Presence] in Urine

1.68

0.68

1.0

2.4

—

(3033319) Streptococcus pyogenes Ag [Presence] in Throat

0.55

0.63

1.0

1.6

—

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

0.00

0.61

0.0

1.6

—

(3047352) Trisomy 18 risk [Likelihood] in Fetus

0.00

0.61

0.0

1.5

—

(3005033) Fetal Nuchal fold Thickness US

0.00

0.61

0.0

1.5

—

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

101

1.52

0.57

5.2

3.6

0.0

estimate

—

(3000764) Benzodiazepines [Presence] in Urine

1.64

0.51

1.0

2.4

—

(3028300) Cannabinoids [Presence] in Urine

1.64

0.51

1.0

2.4

—

(3027008) Opiates [Presence] in Urine

1.64

0.51

1.0

2.3

—

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

1.67

0.44

1.0

2.7

—

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

0.00

0.42

0.0

1.3

—

34.2

—

(3000924) Streptococcus pyogenes [Presence] in Throat by Organism specific culture

0.00

0.42

0.0

1.3

—

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

0.00

0.42

0.0

1.8

—

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

0.00

0.40

0.0

1.5

—

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

1.43

0.39

1.2

1.3

—

(3016879) Cocaine [Presence] in Urine

1.48

0.37

1.0

2.4

—

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

117

0.72

0.31

1.6

2.8

—

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

116

1.28

0.25

2.3

1.8

—

(42868674) Cholesterol in HDL/Cholesterol.total [Molar ratio] in Serum or Plasma

1.35

0.24

5.8

4.1

35.0

28.7

—

(44816844) Macroprolactin [Units/volume] in Serum or Plasma

0.00

0.21

0.0

1.1

—

(4034850)

0.00

0.21

0.0

6.3

—

(3013512) EKG study

1.28

0.21

5.5

3.1

—

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

138

1.23

0.20

1.5

—

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

149

1.21

0.19

2.3

—

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

107

0.81

0.14

1.6

2.5

—

(3001784) Prostate Specific Ag Free/Prostate specific Ag.total in Serum or Plasma

1.07

0.08

1.3

4.3

—

23.8

—

(3019832) Treponema pallidum Ab [Presence] in Serum

1.14

0.06

1.2

1.9

—

(1761868) Lipid panel - Serum or Plasma

140

0.91

0.05

2.8

2.4

—

(3047007) Chlamydophila sp Ab [Presence] in Serum

0.00

0.0

1.0

—

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

0.00

0.0

1.5

—

(3006588) Cancer Ag 15-3 [Units/volume] in Serum or Plasma

0.00

0.0

3.4

—

102.3

—

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

0.00

0.0

1.6

—

1.9

—

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

0.00

0.0

1.7

—

(3022806) Fractional oxyhemoglobin in Capillary blood

0.00

0.0

1.4

—

89.6

—

(3018405) Lactate [Moles/volume] in Arterial blood

0.00

0.0

2.4

—

1.4

—

(3019897) Erythrocyte distribution width [Ratio] by Automated count

0.00

0.0

1.0

—

13.9

—

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

0.00

0.0

1.1

—

(3009466) Valproate [Moles/volume] in Serum or Plasma

0.00

0.0

3.9

—

402.0

—

(3021236) Streptolysin O Ab [Units/volume] in Serum or Plasma

0.00

0.0

1.2

—

108.9

—

(3043409) Potassium [Moles/volume] in Arterial blood

0.00

0.0

2.3

—

4.1

—

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

0.00

0.0

1.1

—

(3018301) Testosterone Free [Moles/volume] in Serum or Plasma

0.00

0.0

1.2

—

(3025018) Bordetella pertussis Ab [Titer] in Serum

0.00

0.0

1.1

—

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

0.00

0.0

1.0

—

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

0.96

0.00

1.6

1.4

—

(3024666) Lithium, Blood [Moles/volume] in Serum or Plasma

0.00

0.0

12.6

—

0.6

—

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

0.00

0.0

1.0

—

(3019497) Choriogonadotropin.beta subunit free [Moles/volume] in Serum or Plasma

0.00

0.0

1.3

—

Mortality – FinRegistry

↥

Association

Association between endpoint E4_CYSTFIBRO_INT and mortality.

Females

No data

Males

Parameter	HR [95% CI]	p-value
E4_CYSTFIBRO_INT	5.01 [2.97, 8.45]	< 0.001
Birth year	0.985 [0.98, 0.99]	0.003

During the follow-up period (1.1.1998 — 31.12.2019), 60 out of 145 males with E4_CYSTFIBRO_INT died.

Mortality risk

Mortality risk for people of age

years, who have E4_CYSTFIBRO_INT.

N-year risk	Females	Males
1	No data	0.832%
5	No data	5.121%
10	No data	13.024%
15	No data	23.573%
20	No data	36.963%

Relationships between endpoints

↥

Index endpoint: E4_CYSTFIBRO_INT – Cystic fibrosis with intestinal manifestations

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

Cystic fibrosis with intestinal manifestations

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