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

Case counts by codes

FinnGen case counts by registry codes:

generic upset plot

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

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
(3000515) Antithrombin actual/normal in Platelet poor plasma by Chromogenic method
30
11
61.54
47.05
5.8
2.1
%
91.0
95.6
0.30
30
11
(3023419) Bacteria identified in Sputum by Culture
28
0
+∞
32.71
23.5
0.0
—
—
—
0
0
(3000494) Fungus identified in Specimen by Culture
33
37
21.99
30.30
15.5
1.3
—
—
—
0
0
(4010399)
27
25
20.98
27.44
3.7
1.2
—
—
—
0
0
(3019250) Coagulation factor VIII activity actual/normal in Platelet poor plasma by Coagulation assay
29
7
87.74
27.27
5.8
3.0
%
166.5
150.6
—
29
7
(3016407) Fibrinogen [Mass/volume] in Platelet poor plasma by Coagulation assay
30
9
73.75
27.26
5.6
1.8
g/l
3.4
3.3
—
30
9
(3014162) Mycobacterium tuberculosis DNA [Presence] in Specimen by NAA with probe detection
26
5
98.39
24.94
6.5
1.0
—
—
—
0
0
(3014576) Chloride [Moles/volume] in Serum or Plasma
27
33
15.64
22.72
10.3
6.2
mmol/l
103.2
105.0
0.65
27
33
(40763571) Iron/Transferrin [Ratio] in Serum or Plasma
29
44
13.35
20.75
4.3
2.0
%
20.3
22.8
0.34
23
39
(3038288) Influenza virus B RNA [Presence] in Specimen by NAA with probe detection
27
38
13.45
20.37
4.7
1.4
—
—
—
0
0
(3042936) Bacteria identified in Isolate by Culture
31
53
12.68
20.18
5.7
1.9
—
—
—
0
0
(3044938) Influenza virus A RNA [Presence] in Specimen by NAA with probe detection
31
53
12.68
20.18
5.8
1.8
—
—
—
0
0
(3042194) Human metapneumovirus RNA [Presence] in Specimen by NAA with probe detection
24
9
46.97
20.10
5.0
1.4
—
—
—
0
0
(3040853) Adenovirus DNA [Identifier] in Specimen by NAA with probe detection
24
9
46.97
20.10
4.3
1.4
—
—
—
0
0
(3009595) Pneumocystis jiroveci DNA [Presence] in Specimen by NAA with probe detection
18
0
+∞
20.05
4.3
0.0
—
—
—
0
0
(3043924) Respiratory syncytial virus RNA [Identifier] in Specimen by NAA with probe detection
26
37
12.83
19.35
4.4
1.4
—
—
—
0
0
(3030692) Respiratory virus DNA+RNA [Identifier] in Specimen by NAA with probe detection
20
5
62.29
17.88
4.1
1.2
—
—
—
0
0
(3002482) Mycoplasma pneumoniae DNA [Presence] in Specimen by NAA with probe detection
20
5
62.29
17.88
4.8
1.0
—
—
—
0
0
(40771025) 25-Hydroxyvitamin D3+25-Hydroxyvitamin D2 [Moles/volume] in Serum or Plasma
47
149
19.93
17.50
9.6
2.3
nmol/l
76.4
73.7
0.28
47
132
(3007853) Bacteria identified in Skin by Aerobe culture
25
39
11.24
17.13
4.8
1.6
—
—
—
0
0
(3051714) Fibrin D-dimer FEU [Mass/volume] in Platelet poor plasma
36
87
10.78
17.05
5.0
1.5
mg/l
1.3
0.7
0.41
26
60
(3000492) Spirometry study
26
43
10.91
17.00
4.3
1.2
—
—
—
0
0
(42870588) Differential panel, method unspecified - Blood
44
130
14.96
16.38
29.0
4.6
—
—
—
0
0
(40765161) Human bocavirus DNA [Presence] in Specimen by NAA with probe detection
20
8
38.85
16.19
4.4
1.5
—
—
—
0
0
(3024561) Albumin [Mass/volume] in Serum or Plasma
45
143
15.14
15.96
15.2
3.7
g/l
35.7
37.0
0.99
45
135
(43055120) Cytomegalovirus DNA [Units/volume] (viral load) in Serum or Plasma by NAA with probe detection
20
9
34.53
15.70
26.3
3.1
iu/ml
107.4
—
—
5
0
(3018418) pH of Serum or Plasma
36
96
9.57
15.22
12.4
2.4
ph
7.4
7.4
0.51
12
15
(3023368) Bacteria identified in Blood by Culture
32
76
9.10
15.05
8.2
4.3
—
—
—
0
0
(3042596) Human coronavirus RNA [Presence] in Specimen by NAA with probe detection
17
5
48.63
14.57
4.4
1.2
—
—
—
0
0
(3008536) Aspergillus sp Ab [Presence] in Serum
13
0
+∞
14.18
1.3
0.0
—
—
—
0
0
(3037692) Legionella sp identified in Specimen by Organism specific culture
13
0
+∞
14.18
4.5
0.0
—
—
—
0
0
(3006140) Bilirubin.total [Moles/volume] in Serum or Plasma
47
183
14.79
14.06
28.2
5.3
umol/l
10.1
11.0
0.28
47
168
(3021347) Calcium.ionized [Moles/volume] in Serum or Plasma
42
141
10.53
13.93
17.0
4.0
mmol/l
1.2
1.2
0.86
42
125
(3016431) Calcium.ionized [Moles/volume] adjusted to pH 7.4 in Serum or Plasma
44
156
11.67
13.61
22.3
4.4
mmol/l
1.2
1.2
1.16
38
131
(3006695) Toxoplasma gondii DNA [Presence] in Specimen by NAA with probe detection
12
0
+∞
13.03
4.8
0.0
—
—
—
0
0
(3051552) Clostridioides difficile toxin genes [Presence] in Stool by NAA with probe detection
16
23
9.53
11.26
2.8
1.7
—
—
—
0
0
(3032080) INR in Blood by Coagulation assay
35
117
6.86
10.94
6.4
3.0
inr
1.1
1.0
0.34
14
36
(3002179) Metamyelocytes/100 leukocytes in Blood
18
31
8.28
10.90
9.8
3.7
%
0.8
0.3
—
6
9
(3025023) Rhinovirus RNA [Presence] in Specimen by NAA with probe detection
13
5
33.59
10.39
2.8
1.6
—
—
—
0
0
(3025159) Blasts/100 leukocytes in Blood
17
30
7.87
10.01
10.4
3.9
%
0.0
0.0
—
6
10
(3017181) Myelocytes/100 leukocytes in Blood
18
34
7.50
9.97
10.3
3.6
%
0.8
0.6
—
8
14
(40769539) Bacteria identified based on 16S rRNA gene [Identifier] in Specimen by Sequencing
13
6
27.94
9.92
3.5
2.0
—
—
—
0
0
(3013826) Glucose [Moles/volume] in Serum or Plasma
45
210
8.54
9.90
15.5
3.7
mmol/l
7.3
6.3
1.41
45
185
(3016881) Enterovirus RNA [Presence] in Specimen by NAA with probe detection
13
7
23.94
9.49
2.8
1.4
—
—
—
0
0
(3021440) Promyelocytes/100 leukocytes in Blood
17
32
7.35
9.40
10.8
3.7
%
0.0
0.0
—
7
12
(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
13
18
9.24
9.29
2.1
1.7
—
—
—
0
0
(3021589) Normoblasts [#/volume] in Blood
42
186
7.06
9.06
32.6
7.1
e9/l
0.0
0.0
0.00
37
152
(40757373) Influenza virus identified in Isolate
8
0
+∞
8.55
4.3
0.0
—
—
—
0
0
(3012516) Albumin [Mass/volume] in Urine
26
83
5.19
8.08
3.8
2.7
mg/l
169.1
132.2
0.12
20
45
(40758558) Short blood count panel - Blood
31
115
5.08
7.99
20.1
4.9
—
—
—
0
0
(3019060) Gas panel - Arterial blood
11
15
8.99
7.87
1.8
3.7
—
—
—
0
0
(3042733) HLA Ab [Presence] in Serum
7
0
+∞
7.45
2.4
0.0
—
—
—
0
0
(3036432) Mycobacterium tuberculosis genotype [Identifier] in Isolate
7
0
+∞
7.45
24.6
0.0
—
—
—
0
0
(36304419) Bacteria [Presence] in Urine
29
109
4.67
7.19
7.3
2.5
—
—
—
0
0
(3007164) IgA [Mass/volume] in Serum or Plasma
29
111
4.56
6.98
3.2
1.4
g/l
2.8
2.0
1.32
24
53
(3020682) Albumin/Creatinine [Ratio] in Urine
25
86
4.61
6.91
4.8
3.3
mg/mmol
27.0
19.5
0.16
19
50
(3027653) Mycophenolate [Mass/volume] in Serum or Plasma
6
0
+∞
6.36
4.8
0.0
mg/l
2.0
—
—
6
0
(3012544) pH of Venous blood
14
32
5.59
6.20
8.6
3.8
—
—
—
0
0
(4306422)
9
6
17.66
6.15
1.2
1.5
—
—
—
0
0
(3029287) Urinalysis microscopic panel [#/volume] - Urine by Automated count
30
132
3.93
5.69
9.1
3.1
—
—
—
0
0
(3020961) Endomysium IgA Ab [Titer] in Serum
10
18
6.61
5.55
1.4
1.3
—
—
—
0
0
(3026910) Gamma glutamyl transferase [Enzymatic activity/volume] in Serum or Plasma
46
294
5.26
5.42
10.9
2.5
u/l
52.3
42.2
0.44
46
278
(3016273) Islet cell 512 Ab [Units/volume] in Serum
5
0
+∞
5.28
1.0
0.0
—
—
—
0
0
(3024932) HLA-DR beta [Type]
5
0
+∞
5.28
1.0
0.0
—
—
—
0
0
(3024471) HLA-A [Type]
5
0
+∞
5.28
1.0
0.0
—
—
—
0
0
(36659890) Mycobacterial identification panel - Specimen by Molecular genetics method
5
0
+∞
5.28
7.0
0.0
—
—
—
0
0
(40768804) Tissue Pathology biopsy report
31
145
3.74
5.27
3.7
2.0
—
—
—
0
0
(36305247) Microscopic observation [Identifier] in Isolate by Gram stain
8
6
15.36
5.26
2.4
1.3
—
—
—
0
0
(3030905) Polymorphonuclear cells [#/volume] in Blood
9
9
11.73
5.25
6.6
4.9
e9/l
5.7
2.6
—
9
9
(3032035) Polymorphonuclear cells/100 leukocytes in Blood
9
9
11.73
5.25
6.4
5.0
%
58.4
50.9
—
9
9
(3004410) Hemoglobin A1c/Hemoglobin.total in Blood
48
330
5.81
4.84
14.0
4.2
mmol/mol
42.2
37.9
1.86
48
307
(3026782) Osmolality of Urine
20
74
3.73
4.75
6.1
2.2
mosm/kgh2o
518.5
583.1
0.70
20
63
(3048929) Epstein Barr virus Ab [Presence] in Serum
12
30
4.88
4.73
1.2
1.2
—
—
—
0
0
(4035726)
11
26
5.08
4.61
1.7
1.4
—
—
—
0
0
(3011397) Hemoglobin [Presence] in Urine by Test strip
21
82
3.59
4.59
3.0
3.4
—
—
—
0
0
(40768797) Stomach Pathology biopsy report
14
41
4.28
4.55
1.1
1.2
—
—
—
0
0
(3015816) F5 gene p.Arg506Gln [Presence] in Blood or Tissue by Molecular genetics method
8
9
10.20
4.45
1.1
1.3
—
—
—
0
0
(3000991) Gas panel - Venous blood
11
27
4.88
4.41
18.5
5.2
—
—
—
0
0
(3007844) Epstein Barr virus capsid IgM Ab [Units/volume] in Serum by Immunoassay
9
14
7.49
4.18
1.2
1.1
—
—
—
0
0
(43054914) Glucose tolerance 2 hours panel - Serum or Plasma
14
44
3.97
4.13
1.8
1.8
—
—
—
0
0
(3000850) Epithelial cells [#/volume] in Urine
20
82
3.31
3.98
6.0
2.1
e6/l
6.1
6.0
0.01
20
74
(3012220) Varicella zoster virus IgM Ab [Presence] in Serum by Immunoassay
7
8
9.85
3.90
1.1
1.3
—
—
—
0
0
(3028369) Herpes simplex virus 1+2 DNA [Presence] in Specimen by NAA with probe detection
6
5
13.27
3.86
3.0
1.0
—
—
—
0
0
(3015916) Alpha-1-Fetoprotein [Units/volume] in Serum or Plasma
6
5
13.27
3.86
2.8
1.8
u/ml
2.3
1.9
—
6
5
(3025941) Bacteria identified in Stool by Culture
9
16
6.53
3.85
1.1
1.4
—
—
—
0
0
(3015635) Cytomegalovirus IgM Ab [Units/volume] in Serum or Plasma
8
12
7.62
3.83
1.5
1.0
—
—
—
0
0
(3017918) Cytomegalovirus IgG Ab [Titer] in Serum or Plasma
8
12
7.62
3.83
1.5
1.0
—
—
—
0
0
(40760892) CBC W Ordered Manual Differential panel - Blood
23
105
3.10
3.81
20.8
4.2
—
—
—
0
0
(3014148) Varicella zoster virus Ab [Titer] in Serum
7
9
8.74
3.68
1.1
1.4
—
—
—
0
0
(1616796) Gas panel - Central venous blood
6
6
11.05
3.59
2.8
1.8
—
—
—
0
0
(3034770) Mitochondria Ab [Titer] in Serum
6
6
11.05
3.59
1.8
1.5
—
—
—
0
0
(3007566) Smooth muscle Ab [Titer] in Serum
6
6
11.05
3.59
1.8
1.5
—
—
—
0
0
(3016293) Bicarbonate [Moles/volume] in Serum or Plasma
9
18
5.79
3.55
14.3
4.2
mmol/l
26.5
25.5
—
9
18
(3044889) 12 lead EKG panel
39
246
3.22
3.55
10.5
3.2
—
—
—
0
0
(3052851) Hemolysis interference index of Serum or Plasma
6
7
9.46
3.35
1.5
2.6
—
—
—
0
0
(40762366) Oxygen capacity [Volume Fraction] in Arterial blood
7
11
7.13
3.30
13.4
6.4
—
—
—
0
0
(586526) SARS-CoV-2 (COVID-19) RNA [Presence] in Nasopharynx by NAA with probe detection
9
20
5.19
3.28
1.9
1.2
—
—
—
0
0
(4268621)
6
8
8.27
3.14
2.3
2.5
—
—
—
0
0
(3034426) Prothrombin time (PT)
5
5
10.84
3.04
1.2
1.4
—
—
—
0
0
(3044640) Blood type and Crossmatch panel - Blood
22
110
2.71
2.97
4.2
2.4
—
—
—
0
0
(3019309) Folate [Moles/volume] in Red Blood Cells
13
49
3.19
2.87
1.9
1.4
nmol/l
1274.0
1196.8
—
8
32
(3019800) Troponin T.cardiac [Mass/volume] in Serum or Plasma
22
113
2.62
2.79
4.3
2.7
ng/l
21.9
27.2
0.35
16
61
(3004490) Bicarbonate [Moles/volume] standard in Capillary blood
7
15
5.20
2.69
9.9
3.3
mmol/l
24.8
24.2
—
7
15
(3024891) Influenza virus A+B Ag [Presence] in Specimen
6
11
5.99
2.62
1.0
1.2
—
—
—
0
0
(37019628) Gastrointestinal bacterial pathogens panel - Stool by NAA with probe detection
5
7
7.73
2.60
1.6
1.6
—
—
—
0
0
(3022145) Colonoscopy Study observation
10
34
3.39
2.57
1.2
1.5
—
—
—
0
0
(43054903) Holo-transcobalamin II [Moles/volume] in Serum
23
125
2.48
2.56
2.8
1.7
pmol/l
76.8
95.3
0.91
13
60
(3002385) Erythrocyte distribution width [Ratio]
48
381
3.75
2.55
59.2
12.0
%
14.1
13.3
2.03
48
375
(3022313) Gas panel - Capillary blood
7
17
4.57
2.45
12.3
3.4
—
—
—
0
0
(3024354) Oxygen [Partial pressure] in Venous blood
9
28
3.65
2.44
8.2
3.9
kpa
4.7
4.3
—
9
28
(3027450) Sjogrens syndrome-B extractable nuclear Ab [Units/volume] in Serum
5
8
6.75
2.42
2.4
1.1
—
—
—
0
0
(3043362) Influenza virus B Ag [Presence] in Nasopharynx by Immunoassay
5
8
6.75
2.42
1.6
1.0
—
—
—
0
0
(3046524) Influenza virus A Ag [Presence] in Nasopharynx by Immunoassay
5
8
6.75
2.42
1.6
1.0
—
—
—
0
0
(46236098) ABO and Rh group [Type] in Blood by Confirmatory method
17
82
2.58
2.40
4.6
2.4
—
—
—
0
0
(3021337) Troponin I.cardiac [Mass/volume] in Serum or Plasma
15
68
2.68
2.38
2.5
2.5
ng/l
1839.5
245.6
—
10
40
(3035350) Ketones [Presence] in Urine by Test strip
29
180
2.35
2.36
5.4
3.1
estimate
0.0
0.0
—
9
38
(3008486) Thyroxine (T4) free [Moles/volume] in Serum or Plasma
43
319
2.84
2.36
5.3
3.4
pmol/l
14.2
14.5
0.38
43
293
(3015736) pH of Urine
24
141
2.28
2.18
4.2
3.0
—
—
—
0
0
(3021601) Nitrite [Presence] in Urine by Test strip
29
185
2.25
2.16
8.9
4.1
estimate
0.0
0.0
—
10
38
(3008909) Norovirus RNA [Presence] in Stool by NAA with probe detection
5
10
5.39
2.12
1.6
1.1
—
—
—
0
0
(3019902) Methicillin resistant Staphylococcus aureus [Presence] in Specimen by Organism specific culture
8
26
3.44
2.11
3.9
3.1
—
—
—
0
0
(3009261) Glucose [Presence] in Urine by Test strip
29
189
2.18
2.01
5.7
3.2
estimate
0.0
0.0
—
10
37
(3021584) Pregnancy associated plasma protein A [Units/volume] in Serum or Plasma
0
48
0.00
1.81
0.0
1.5
—
—
—
0
0
(3026008) Bacteria identified in Urine by Culture
19
110
2.13
1.73
3.2
2.2
—
—
—
0
0
(3004588) Protein electrophoresis panel - Serum or Plasma
5
14
3.82
1.65
1.0
3.5
—
—
—
0
0
(46235759) Influenza virus B RNA [Presence] in Nasopharynx by NAA with probe detection
5
14
3.82
1.65
9.8
2.8
—
—
—
0
0
(3044254) Respiratory syncytial virus RNA [Presence] in Specimen by NAA with probe detection
5
15
3.56
1.56
8.0
2.3
—
—
—
0
0
(3002256) Pathology report gross observation
9
38
2.64
1.55
1.3
1.3
—
—
—
0
0
(3037467) Urinalysis macro (dipstick) panel - Urine
36
272
2.01
1.52
13.4
3.6
—
—
—
0
0
(3003785) Carcinoembryonic Ag [Mass/volume] in Serum or Plasma
7
28
2.72
1.51
3.0
4.3
ug/l
2.2
9.1
—
7
23
(40768443) Skin Pathology biopsy report
5
16
3.34
1.47
1.2
1.3
—
—
—
0
0
(3017766) Complement C4 [Mass/volume] in Serum or Plasma
5
17
3.13
1.39
2.6
1.2
g/l
0.3
0.2
—
5
17
(706163) SARS-CoV-2 (COVID-19) RNA [Presence] in Respiratory system specimen by NAA with probe detection
44
374
2.04
1.25
4.1
3.6
—
—
—
0
0
(3017143) Hepatitis C virus Ab [Presence] in Serum
14
81
1.99
1.24
2.3
1.6
—
—
—
0
0
(3041096) Erythrocytes [Presence] in Urine by Automated
17
106
1.89
1.22
6.0
2.5
—
—
—
0
0
(3050129) First trimester maternal screen panel - Serum or Plasma
0
33
0.00
1.21
0.0
1.4
—
—
—
0
0
(40763086) Leukocyte esterase [Presence] in Urine by Automated test strip
21
142
1.79
1.17
5.6
3.2
—
—
—
0
0
(3001079) Blood group antibody screen [Presence] in Serum or Plasma
25
181
1.72
1.09
7.4
3.7
—
—
—
0
0
(3021879) Hepatitis B virus core Ab [Presence] in Serum
9
50
1.96
1.03
2.1
1.6
—
—
—
0
0
(40761536) Microorganisms panel - Urine sediment
7
36
2.08
1.01
6.1
2.9
—
—
—
0
0
(3008898) HLA-B27 [Presence]
0
28
0.00
1.01
0.0
1.1
—
—
—
0
0
(3024135) Streptococcus.beta-hemolytic [Presence] in Throat by Organism specific culture
9
145
0.54
0.85
1.7
1.8
—
—
—
0
0
(3043238) Trisomy 21 risk [Likelihood] in Fetus
0
24
0.00
0.81
0.0
1.6
—
—
—
0
0
(40763531) Fetal Nuchal fold [Multiple of the median] Thickness adjusted for maternal weight
0
24
0.00
0.81
0.0
1.5
—
—
—
0
0
(46235831) Pregnancy associated plasma protein A [Multiple of the median] adjusted in Serum or Plasma
0
24
0.00
0.81
0.0
1.5
—
—
—
0
0
(3049207) Fetal Trisomy 21 risk [Likelihood] Based on maternal age
0
24
0.00
0.81
0.0
1.5
—
—
—
0
0
(3008714) Choriogonadotropin [Multiple of the median] adjusted in Serum or Plasma
0
24
0.00
0.81
0.0
1.5
—
—
—
0
0
(3020321) Streptococcus agalactiae [Presence] in Vaginal fluid by Organism specific culture
0
24
0.00
0.81
0.0
1.4
—
—
—
0
0
(3001019) Free T4 and TSH panel - Serum or Plasma
0
25
0.00
0.81
0.0
2.0
—
—
—
0
0
(3019145) Choriogonadotropin.beta subunit free [Mass/volume] in Serum or Plasma
0
26
0.00
0.81
0.0
1.6
—
—
—
0
0
(36660697) Celiac disease serology panel - Serum
9
55
1.76
0.79
1.6
1.1
—
—
—
0
0
(3019225) pH of Specimen
5
24
2.19
0.77
16.8
4.1
—
—
—
0
0
(3027944) Amphetamines [Presence] in Urine
7
44
1.68
0.68
1.0
2.4
—
—
—
0
0
(3033319) Streptococcus pyogenes Ag [Presence] in Throat
5
85
0.55
0.63
1.0
1.6
—
—
—
0
0
(21492888) Glucose tolerance 2 hours gestational panel - Serum or Plasma
0
22
0.00
0.61
0.0
1.6
—
—
—
0
0
(3047352) Trisomy 18 risk [Likelihood] in Fetus
0
22
0.00
0.61
0.0
1.5
—
—
—
0
0
(3005033) Fetal Nuchal fold Thickness US
0
22
0.00
0.61
0.0
1.5
—
—
—
0
0
(3029937) Albumin [Presence] in Urine by Test strip
14
101
1.52
0.57
5.2
3.6
estimate
0.0
0.0
—
8
34
(3000764) Benzodiazepines [Presence] in Urine
7
45
1.64
0.51
1.0
2.4
—
—
—
0
0
(3028300) Cannabinoids [Presence] in Urine
7
45
1.64
0.51
1.0
2.4
—
—
—
0
0
(3027008) Opiates [Presence] in Urine
7
45
1.64
0.51
1.0
2.3
—
—
—
0
0
(1001926) Buprenorphine [Presence] in Urine by Screen method
5
31
1.67
0.44
1.0
2.7
—
—
—
0
0
(3004248) Sex hormone binding globulin [Moles/volume] in Serum or Plasma
0
15
0.00
0.42
0.0
1.3
—
34.2
—
0
15
(3000924) Streptococcus pyogenes [Presence] in Throat by Organism specific culture
0
15
0.00
0.42
0.0
1.3
—
—
—
0
0
(3000855) Microscopic observation [Identifier] in Vaginal fluid by Gram stain
0
16
0.00
0.42
0.0
1.8
—
—
—
0
0
(1002102) Choriogonadotropin.intact+Beta subunit [Mass/volume] in Serum or Plasma
0
18
0.00
0.40
0.0
1.5
—
—
—
0
0
(3004716) Salmonella sp identified in Stool by Organism specific culture
5
36
1.43
0.39
1.2
1.3
—
—
—
0
0
(3016879) Cocaine [Presence] in Urine
6
42
1.48
0.37
1.0
2.4
—
—
—
0
0
(3024950) Chlamydia trachomatis DNA [Presence] in Urine by NAA with probe detection
9
117
0.72
0.31
1.6
2.8
—
—
—
0
0
(3019284) Hepatitis B virus surface Ag [Presence] in Serum
14
116
1.28
0.25
2.3
1.8
—
—
—
0
0
(42868674) Cholesterol in HDL/Cholesterol.total [Molar ratio] in Serum or Plasma
5
38
1.35
0.24
5.8
4.1
%
35.0
28.7
—
5
23
(44816844) Macroprolactin [Units/volume] in Serum or Plasma
0
10
0.00
0.21
0.0
1.1
—
—
—
0
0
(4034850)
0
12
0.00
0.21
0.0
6.3
—
—
—
0
0
(3013512) EKG study
11
90
1.28
0.21
5.5
3.1
—
—
—
0
0
(3003694) ABO and Rh group [Type] in Blood
16
138
1.23
0.20
1.5
1.5
—
—
—
0
0
(46235355) HIV 1 and 2 tests - Meaningful Use set
17
149
1.21
0.19
2.3
2.3
—
—
—
0
0
(3003510) Neisseria gonorrhoeae DNA [Presence] in Urine by NAA with probe detection
9
107
0.81
0.14
1.6
2.5
—
—
—
0
0
(3001784) Prostate Specific Ag Free/Prostate specific Ag.total in Serum or Plasma
7
66
1.07
0.08
1.3
4.3
—
23.8
—
0
29
(3019832) Treponema pallidum Ab [Presence] in Serum
10
90
1.14
0.06
1.2
1.9
—
—
—
0
0
(1761868) Lipid panel - Serum or Plasma
13
140
0.91
0.05
2.8
2.4
—
—
—
0
0
(3047007) Chlamydophila sp Ab [Presence] in Serum
0
8
0.00
0.00
0.0
1.0
—
—
—
0
0
(3002148) Methylenedioxymethamphetamine [Presence] in Urine by Screen method
0
8
0.00
0.00
0.0
1.5
—
—
—
0
0
(3006588) Cancer Ag 15-3 [Units/volume] in Serum or Plasma
0
8
0.00
0.00
0.0
3.4
—
102.3
—
0
8
(3028271) Lactate [Moles/volume] in Capillary blood
0
7
0.00
0.00
0.0
1.6
—
1.9
—
0
7
(3023420) DNA double strand Ab [Units/volume] in Serum
0
6
0.00
0.00
0.0
1.7
—
—
—
0
0
(3022806) Fractional oxyhemoglobin in Capillary blood
0
7
0.00
0.00
0.0
1.4
—
89.6
—
0
7
(3018405) Lactate [Moles/volume] in Arterial blood
0
9
0.00
0.00
0.0
2.4
—
1.4
—
0
9
(3019897) Erythrocyte distribution width [Ratio] by Automated count
0
7
0.00
0.00
0.0
1.0
—
13.9
—
0
7
(3043109) Cytology report of Tissue fine needle aspirate Cyto stain
0
7
0.00
0.00
0.0
1.1
—
—
—
0
0
(3009466) Valproate [Moles/volume] in Serum or Plasma
0
7
0.00
0.00
0.0
3.9
—
402.0
—
0
7
(3021236) Streptolysin O Ab [Units/volume] in Serum or Plasma
0
6
0.00
0.00
0.0
1.2
—
108.9
—
0
6
(3043409) Potassium [Moles/volume] in Arterial blood
0
7
0.00
0.00
0.0
2.3
—
4.1
—
0
7
(3042206) Streptococcus agalactiae Ag [Presence] in Vaginal fluid
0
7
0.00
0.00
0.0
1.1
—
—
—
0
0
(3018301) Testosterone Free [Moles/volume] in Serum or Plasma
0
5
0.00
0.00
0.0
1.2
—
—
—
0
0
(3025018) Bordetella pertussis Ab [Titer] in Serum
0
7
0.00
0.00
0.0
1.1
—
—
—
0
0
(3014973) Borrelia burgdorferi IgM Ab [Units/volume] in Cerebral spinal fluid
0
5
0.00
0.00
0.0
1.0
—
—
—
0
0
(3018006) Microscopic observation [Identifier] in Cervix by Cyto stain.thin prep
9
93
0.96
0.00
1.6
1.4
—
—
—
0
0
(3024666) Lithium, Blood [Moles/volume] in Serum or Plasma
0
5
0.00
0.00
0.0
12.6
—
0.6
—
0
5
(3010380) Borrelia burgdorferi IgG Ab [Units/volume] in Cerebral spinal fluid
0
5
0.00
0.00
0.0
1.0
—
—
—
0
0
(3019497) Choriogonadotropin.beta subunit free [Moles/volume] in Serum or Plasma
0
6
0.00
0.00
0.0
1.3
—
—
—
0
0

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]
Extremity
rg [CI]
Extremity
Hits
Coloc Hits
FinRegistry
FinnGen
FinRegistry
FinnGen
FinnGen
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