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.']

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Endpoint definition

Report an error or suggest an improvement for this endpoint codes

Endpoint definition steps

FinnGen

Phenotype data

519972

1. Apply sex-specific rule

None

519972

2. Check conditions

None

519972

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.

55

4. Check minimum number of events

None

55

5. Include endpoints

None

55

6. Filter based on genotype QC (FinnGen only)

52

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 52 31 21
Unadjusted period prevalence (%) 0.01 0.01 0.01
Median age at first event (years) 22.78 25.96 18.08

-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

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.

Matched cohort

Matched cases
55
Matched controls
550
Code
Vocabulary
Description
Odds Ratio
-log10(p)
N matched cases
N matched controls
133
Kela drug reimbursment
Severe chronic pancreatic insufficiency
318.8
43.1
39
*
E84.0
ICD-10 Finland
Cystic fibrosis with pulmonary manifestations
+∞
42.2
35
*
A09AA02
ATC
multienzymes (lipase, protease etc.); oral
198.3
42.0
40
7
R05CB13
ATC
dornase alfa (desoxyribonuclease); inhalant
+∞
40.8
34
*
304
Kela drug reimbursment
Dornase alfa
+∞
40.8
34
*
E84.1
ICD-10 Finland
Cystic fibrosis with intestinal manifestations
+∞
38.0
32
*
E84.9
ICD-10 Finland
Cystic fibrosis, unspecified
+∞
36.6
31
*
J01GB01
ATC
tobramycin; inhalant, parenteral
+∞
33.9
29
*
203
Kela drug reimbursment
Chronic asthma and similar chronic obstructive pulmonary diseases
25.8
33.6
41
56
NK6QA
NOMESCO Finland
Measurement of bone density from two or more locations with X-ray
105.8
29.0
30
6
601
Kela drug reimbursment
Severe malabsorption of nutrients, mainly fats
183.6
29.0
28
*
UGC12
NOMESCO Finland
Flexible bronchoscopy
148.0
25.2
25
*
UJD10
NOMESCO Finland
Esophagoscopy, gastroscopy and duodenoscopy
15.6
24.1
38
69
GD1AA
NOMESCO Finland
Thorax X-ray examination
24.7
21.7
48
119
TGC00
NOMESCO Finland
Bronchial lavation
+∞
21.2
19
*
E84.8
ICD-10 Finland
Cystic fibrosis with other manifestations
+∞
21.2
19
*
J32.0
ICD-10 Finland
Chronic maxillary sinusitis
30.7
21.2
29
19
GD1DD
NOMESCO Finland
High resolution CT examination of lungs
49.1
21.1
25
9
E13.9
ICD-10 Finland
Other specified diabetes mellitus, without complications
305.7
21.1
20
*
GD1UA
NOMESCO Finland
Thorax X-ray examination outside radiological department
14.0
21.1
26
33
J18.9
ICD-10 Finland
Pneumonia, unspecified
12.5
20.7
33
59
J01XB01
ATC
colistin; inhalant, parenteral
+∞
20.0
18
*
R4190
NOMESCO Finland
Nutritional therapy
41.1
19.5
24
10
R4110
NOMESCO Finland
Physiotherapy
11.0
18.3
36
81
J32.4
ICD-10 Finland
Chronic pansinusitis
+∞
17.6
16
*
L04AA06
ATC
mycophenolic acid; systemic
239.9
17.6
17
*
J01MA02
ATC
ciprofloxacin; systemic
11.0
17.5
39
100
GD1ED
NOMESCO Finland
Extensive high resolution CT examination of lungs
86.9
17.0
18
*
GD1AD
NOMESCO Finland
Thorax CT examination
36.5
16.7
21
9
WX700
NOMESCO Finland
Respiratory and circulatory monitoring
10.7
16.5
24
37
2770A
ICD-9 Finland
Other and unspecified disorders of metabolism, Cystic fibrosis
+∞
16.5
15
*
E84
ICD-10 Finland
Cystic fibrosis
+∞
16.5
15
*
Z94.2
ICD-10 Finland
Lung transplant status
+∞
16.5
15
*
R03AK06
ATC
salmeterol and fluticasone; inhalant
10.9
16.3
23
34
127
Kela drug reimbursment
Transplant complication
80.0
15.8
17
*
A12AX
ATC
Calcium, combinations with vitamin D and/or other drugs
9.1
15.6
33
78
TGD04
NOMESCO Finland
Needle biopsy of the lungs in bronchoscopy
+∞
15.3
14
*
R03BA02
ATC
budesonide; inhalant
9.2
15.3
27
52
L04AD02
ATC
tacrolimus; systemic
201.4
15.3
15
*
DM1AA
NOMESCO Finland
Paranasal sinuses X-ray examination without contrast
73.4
14.7
16
*
GD1PA
NOMESCO Finland
X-ray examination of the lungs in one projection
23.3
14.6
21
14
XG410
NOMESCO Finland
Flow-volume spirometry
37.1
14.5
18
7
DMB20
NOMESCO Finland
Functional endoscopic opening of maxillary antrum
25.3
14.4
20
12
J33.0
ICD-10 Finland
Polyp of nasal cavity
183.5
14.2
14
*
GDG10
NOMESCO Finland
Bilateral transplantation of lung
+∞
14.2
13
*
TPH04
NOMESCO Finland
Cathetrisation of vein
8.6
14.1
26
52
WX408
NOMESCO Finland
General anesthesy, balanced
8.2
14.1
32
80
ZXA10
NOMESCO Finland
Bilateral
8.5
13.4
24
46
TDM10
NOMESCO Finland
Puncture of maxillary antrum
23.3
13.4
19
12
UDH02
NOMESCO Finland
Rhinopharyngoscopy
15.8
13.1
22
22
GD1BT
NOMESCO Finland
Biopsy of lung with X-ray guidance
+∞
13.0
12
*
GD1CD
NOMESCO Finland
Thorax extensive CT-examination
+∞
13.0
12
*
R03BA05
ATC
fluticasone; inhalant
7.8
12.8
26
57
Z71.3
ICD-10 Finland
Dietary counselling and surveillance
23.5
12.8
18
11
Z3226
NOMESCO Finland
Physiotherapist
7.5
12.5
27
63
WX404
NOMESCO Finland
Intravenous generell anesthesy
7.4
12.4
28
68
XG412
NOMESCO Finland
Flow-volume spirometry with bronchospasmolysis
17.4
12.0
19
16
J01MA12
ATC
levofloxacin; systemic
7.4
11.8
24
52
TPH15
NOMESCO Finland
Insertion of central venous catheter through external or internal jugular vein
18.4
11.7
18
14
A10AB05
ATC
insulin aspart; parenteral
18.4
11.7
18
14
103
Kela drug reimbursment
Diabetes, insulin-treated
7.3
11.5
23
49
J15.9
ICD-10 Finland
Bacterial pneumonia, unspecified
17.2
11.4
18
15
602
Kela drug reimbursment
Children's severe malnutrition
36.7
11.4
14
5
DM1QA
NOMESCO Finland
Paranasal sinuses X-ray examination in one projection
21.9
11.2
16
10
J20.9
ICD-10 Finland
Acute bronchitis, unspecified
6.8
10.9
24
56
215
Kela drug reimbursment
Diabetes, non-insulin-treated
7.1
10.9
22
47
DNB20
NOMESCO Finland
Endoscopic ethmoidectomy
41.5
10.9
13
*
J01EE01
ATC
sulfamethoxazole and trimethoprim; systemic
19.9
10.8
16
11
JN3AE
NOMESCO Finland
Abdominal ultrasound examination
10.7
10.8
22
32
R07AX02
ATC
ivacaftor; oral
+∞
10.8
10
*
3045, ,
Kela drug reimbursment
+∞
10.8
10
*
B05XA03
ATC
sodium chloride; parenteral
+∞
10.8
10
*
R07AX32
ATC
ivacaftor, tezacaftor and elexacaftor; oral
+∞
10.8
10
*
SPAT1262
SPAT
Handing over of treatment supplies
11.9
10.6
20
25
TPX10
NOMESCO Finland
Implantation of vascular injection port
33.2
10.4
13
5
J01MA14
ATC
moxifloxacin; systemic
14.8
10.2
17
16
J01CF05
ATC
flucloxacillin; systemic
14.8
10.2
17
16
WX402
NOMESCO Finland
General anaesthesia
6.8
10.1
21
46
DM1AD
NOMESCO Finland
CT of paranasal sinuses and face area
27.7
9.9
13
6
DPA25
NOMESCO Finland
Trephine of frontal sinus through nose
119.8
9.7
10
*
R04.2
ICD-10 Finland
Haemoptysis
119.8
9.7
10
*
UJF32
NOMESCO Finland
Coloscopy
6.4
9.7
22
52
R03AK07
ATC
formoterol and budesonide; inhalant
6.2
9.7
23
57
XX4BW, ,
NOMESCO Finland
+∞
9.6
9
*
ZXE10
NOMESCO Finland
More than one and less than three hours
5.7
9.5
31
102
UDM02
NOMESCO Finland
Sinoscopy
44.8
9.4
11
*
R01AD08
ATC
fluticasone; nasal
5.6
9.4
32
109
Z01.1
ICD-10 Finland
Examination of ears and hearing
6.7
9.1
18
37
FXA00
NOMESCO Finland
Total cardiopulmonary bypass in normothermia or moderate hypothermia at concurrent surgical procedure
20.7
9.1
13
8
K90.3
ICD-10 Finland
Pancreatic steatorrhoea
59.9
9.0
10
*
DM1AI
NOMESCO Finland
Cone beam CT of paranasal sinus
59.9
9.0
10
*
H02AB06
ATC
prednisolone; systemic
5.6
8.9
37
147
R03AC02
ATC
salbutamol; inhalant
7.6
8.9
47
240
Z3229
NOMESCO Finland
Other healthcare associate professional
10.6
8.7
17
22
Z31.5
ICD-10 Finland
Genetic counselling
10.6
8.7
17
22
ZXE00
NOMESCO Finland
One hour or less
5.4
8.7
36
142
TPH90
NOMESCO Finland
Removal of fixed intravenous catheter
105.6
8.7
9
*
FM1AE
NOMESCO Finland
Standard cardiac ultrasound examination
6.4
8.6
18
39
UDC00
NOMESCO Finland
Ear microscopy
11.4
8.6
16
19
R05CB02
ATC
bromhexine; systemic
+∞
8.5
8
*
RS123, ,
NOMESCO Finland
+∞
8.5
8
*
DPA30
NOMESCO Finland
Sphenotomy
+∞
8.5
8
*
WX302
NOMESCO Finland
Thoracal epidural anesthesy
18.7
8.2
12
8
TFB00
NOMESCO Finland
Cathetrisation of pulmonal artery
52.8
8.0
9
*
JN1AE
NOMESCO Finland
Ultrasound examination of upper part of abdomen
9.8
7.9
16
22
A05AA02
ATC
ursodeoxycholic acid; oral
29.9
7.9
10
*
XF400
NOMESCO Finland
ECG with 12 standard connections
6.0
7.8
17
38
FM1BE
NOMESCO Finland
Cardiac ultrasound examination through oesophagus
13.7
7.8
13
12
Z2446
NOMESCO Finland
Social worker
9.3
7.7
16
23
TPH30
NOMESCO Finland
Insertion of central venous catheter through periferal vein
92.0
7.6
8
*
SPAT1255
SPAT
Intravenous administration of medicine
19.2
7.6
11
7
FB1BD
NOMESCO Finland
Extensive CT examination of arteria pulmonalis
19.2
7.6
11
7
WX872
NOMESCO Finland
Intensive care
14.9
7.5
12
10
DHB20
NOMESCO Finland
Polypectomy of internal nose
+∞
7.4
7
*
ZXD10
NOMESCO Finland
Scheduled procedure
4.6
7.3
32
128
Z2221
NOMESCO Finland
Medical doctor
4.6
7.3
27
95
R03AC03
ATC
terbutaline; inhalant
5.6
7.2
17
41
ZX120
NOMESCO Finland
Intravenous
10.0
7.2
14
18
WX002
NOMESCO Finland
Sedation and analgesia
5.3
7.1
18
46
C03CA01
ATC
furosemide; systemic
5.2
7.1
19
51
A02BA03
ATC
famotidine; systemic
19.9
7.0
10
6
ZXE06
NOMESCO Finland
Procedure duration 50 to 59 minutes
9.5
6.9
14
19
R03AC13
ATC
formoterol; inhalant
14.9
6.9
11
9
GD1BD
NOMESCO Finland
Thorax extensive CT-examination
26.3
6.9
9
*
WZC00
NOMESCO Finland
Treatment plan or consultation
4.4
6.9
33
139
J01CR02
ATC
amoxicillin and beta-lactamase inhibitor; systemic
5.8
6.9
45
240
SPAT1325
SPAT
Vaccination
4.3
6.7
32
134
A06AD11
ATC
lactulose; oral
11.4
6.7
12
13
JN3AA
NOMESCO Finland
Abdominal X-ray examination without contrast
17.0
6.7
10
7
NA2AA
NOMESCO Finland
Thoracal spine X-ray examination without contrast
78.6
6.6
7
*
ZXE40
NOMESCO Finland
More than seven and less than nine hours
30.6
6.4
8
*
4730A
ICD-9 Finland
Chronic sinusitis, Maxillary
30.6
6.4
8
*
27300
ICD-8 Finland
Other and unspecified congenital disorders of metabolism, Cystic fibrosis (mucoviscidosis)
+∞
6.4
6
*
V07AB
ATC
Solvents and diluting agents, incl. irrigating solutions
+∞
6.4
6
*
J02AC04
ATC
posaconazole; systemic
+∞
6.4
6
*
DM1BG
NOMESCO Finland
Paranasal sinuses and face area standard MRI examination with high intensity magnet
+∞
6.4
6
*
J45.9
ICD-10 Finland
Asthma, unspecified
4.7
6.3
19
56
Z3231
NOMESCO Finland
Registered nurse
4.2
6.3
25
91
J01EE02
ATC
sulfadiazine and trimethoprim; systemic
4.0
6.1
29
119
Z00.4
ICD-10 Finland
General psychiatric examination, not elsewhere classified
5.0
6.0
16
42
FM1EE
NOMESCO Finland
Extensive structural and functional ultrasound examination of heart
4.8
6.0
17
47
ZXE05
NOMESCO Finland
Procedure duration 40 to 49 minutes
9.2
6.0
12
16

LabWAS

OMOP Concept
People with measurements
Mean N measurements
Mean measured value
(ID) Name
N Cases
N Controls
OR
-log10(p)
cases
controls
cases
controls
unit
-log10(p)
N cases
N controls
28
0
+∞
32.55
24.7
0.0
—
—
—
0
0
33
38
20.21
29.60
15.5
1.3
—
—
—
0
0
27
34
14.63
22.13
10.3
5.9
103.22
105.18
mmol/l
0.76
27
34
30
47
12.84
20.88
4.4
1.9
20.15
22.66
%
0.36
24
42
31
52
12.37
20.41
5.7
1.9
—
—
—
0
0
40
97
12.45
19.20
15.0
2.7
94.58
94.86
%
0.02
40
97
38
91
11.27
18.25
4.9
1.5
1.29
0.74
mg/l
0.40
28
65
47
150
15.59
16.69
14.9
3.6
35.71
36.77
g/l
0.80
47
141
27
27
18.46
16.52
3.7
1.1
—
—
—
0
0
25
41
10.35
16.32
4.8
1.6
—
—
—
0
0
26
45
10.06
16.23
4.3
1.2
—
—
—
0
0
33
79
8.94
15.35
8.2
4.3
—
—
—
0
0
37
104
8.82
14.63
12.3
2.4
7.40
7.41
ph
0.56
13
16
49
193
15.05
14.53
27.2
5.2
10.00
10.67
umol/l
0.19
49
178
13
0
+∞
14.15
1.3
0.0
—
—
—
0
0
43
154
9.21
12.94
16.8
3.8
1.20
1.22
mmol/l
0.96
43
135
45
169
10.14
12.89
22.0
4.2
1.20
1.22
mmol/l
1.33
39
143
47
205
9.85
11.42
37.8
5.9
—
—
—
0
0
47
214
9.20
10.70
15.1
3.6
7.21
6.35
mmol/l
1.24
47
188
19
36
7.54
10.51
10.0
4.5
0.75
0.67
%
—
8
15
37
133
6.44
10.45
9.7
4.8
1.18
1.05
inr
0.63
18
41
44
192
7.46
9.79
32.7
7.2
0.00
0.00
e9/l
-0.00
39
156
27
82
5.50
8.99
4.0
2.7
162.57
137.52
mg/l
0.08
21
43
33
120
5.38
8.84
19.0
4.8
—
—
—
0
0
8
0
+∞
8.54
4.3
0.0
—
—
—
0
0
19
33
8.21
8.20
9.6
4.7
0.86
0.33
%
—
7
12
31
113
5.00
8.13
7.7
2.6
—
—
—
0
0
26
85
4.90
7.74
5.0
3.2
25.86
20.27
mg/mmol
0.12
20
48
18
32
7.83
7.61
10.1
4.9
0.00
0.00
%
—
6
10
7
0
+∞
7.45
2.4
0.0
—
—
—
0
0
7
0
+∞
7.45
4.4
0.0
2.11
—
mg/l
—
7
0
18
34
7.34
7.30
10.5
4.7
0.00
0.00
%
—
7
12
30
118
4.39
6.89
3.1
1.4
2.76
2.00
g/l
1.41
24
57
10
9
13.23
6.07
6.3
4.9
5.66
2.60
e9/l
—
10
9
10
9
13.23
6.07
6.2
5.0
59.10
50.89
%
—
10
9
11
14
9.50
5.66
1.8
3.9
—
—
—
0
0
33
155
3.82
5.60
3.6
1.9
—
—
—
0
0
5
0
+∞
5.28
1.0
0.0
—
—
—
0
0
5
0
+∞
5.28
1.0
0.0
—
—
—
0
0
5
0
+∞
5.28
1.0
0.0
—
—
—
0
0
12
20
7.35
5.27
1.3
1.4
—
—
—
0
0
16
47
4.39
5.22
1.1
1.2
—
—
—
0
0
22
83
3.75
5.09
6.8
2.2
6.05
5.75
e6/l
0.04
22
76
21
77
3.79
5.06
7.3
2.4
512.10
586.70
mosm/kgh2o
0.89
21
66
50
346
5.88
5.01
13.9
4.1
41.96
37.77
mmol/mol
1.86
50
321
22
86
3.60
4.80
3.0
3.3
—
—
—
0
0
14
34
5.16
4.63
8.6
3.7
—
—
—
0
0
7
6
13.10
4.40
3.0
1.8
—
—
—
0
0
10
17
6.92
4.36
1.2
1.4
—
—
—
0
0
14
43
4.03
4.25
1.8
1.8
—
—
—
0
0
10
20
5.86
3.91
13.3
4.0
26.13
25.59
mmol/l
—
10
20
7
8
9.80
3.89
1.1
1.5
—
—
—
0
0
8
12
7.58
3.82
1.5
1.0
—
—
—
0
0
12
31
4.65
3.77
1.2
1.2
—
—
—
0
0
6
6
11.01
3.58
2.8
1.7
2.28
2.32
u/ml
—
6
6
40
255
3.08
3.48
10.8
3.1
—
—
—
0
0
11
29
4.47
3.41
18.5
5.1
—
—
—
0
0
6
7
9.42
3.35
1.8
1.4
—
—
—
0
0
6
7
9.42
3.35
1.8
1.4
—
—
—
0
0
11
30
4.32
3.31
1.7
1.4
—
—
—
0
0
9
20
5.16
3.28
11.0
2.6
23.11
23.29
mmol/l
—
9
20
12
37
3.86
3.18
1.2
1.5
—
—
—
0
0
6
8
8.24
3.14
1.3
2.5
—
—
—
0
0
7
12
6.50
3.13
13.4
6.0
—
—
—
0
0
14
53
3.20
3.08
1.9
1.5
1423.44
1186.80
nmol/l
—
9
33
23
117
2.66
2.98
4.5
2.7
21.57
26.37
ng/l
0.33
17
64
16
69
2.86
2.81
2.7
2.8
1672.91
252.56
ng/l
1.10
11
41
31
187
2.51
2.78
6.0
3.1
0.00
0.00
estimate
-0.00
11
38
25
137
2.51
2.74
2.7
1.8
77.34
96.95
pmol/l
1.09
14
66
22
114
2.55
2.71
4.2
2.3
—
—
—
0
0
31
192
2.41
2.57
9.0
3.9
0.00
0.00
estimate
-0.00
11
37
7
16
4.85
2.56
9.9
3.2
24.77
23.96
mmol/l
—
7
16
31
193
2.39
2.52
6.0
3.1
0.00
0.00
estimate
-0.00
11
37
45
333
2.93
2.51
5.2
3.4
14.28
14.45
pmol/l
0.18
45
306
6
12
5.46
2.47
1.0
1.2
—
—
—
0
0
5
8
6.73
2.42
3.4
1.5
5.28
4.93
kpa
—
5
8
5
8
6.73
2.42
3.2
1.5
7.86
8.36
kpa
—
5
8
5
8
6.73
2.42
3.4
1.6
7.45
7.43
ph
—
5
8
7
18
4.29
2.34
12.3
3.3
—
—
—
0
0
21
114
2.36
2.28
3.0
2.3
—
—
—
0
0
9
30
3.38
2.27
8.2
3.7
4.70
4.41
kpa
—
9
30
25
154
2.14
1.97
4.3
3.1
—
5.86
—
0
11
8
29
3.05
1.88
2.9
4.5
2.04
8.77
ug/l
—
8
24
38
281
2.14
1.79
13.4
3.6
—
—
—
0
0
9
39
2.56
1.52
1.3
1.3
—
—
—
0
0
18
107
2.01
1.49
6.7
2.5
—
—
—
0
0
5
16
3.33
1.47
1.0
3.2
—
—
—
0
0
5
16
3.33
1.47
2.0
3.9
0.94
0.55
%
—
5
16
8
35
2.50
1.33
8.6
2.9
—
—
—
0
0
5
18
2.95
1.31
2.6
1.2
0.25
0.23
g/l
—
5
18
5
18
2.95
1.31
1.2
1.2
—
—
—
0
0
14
83
1.92
1.15
2.3
1.6
—
—
—
0
0
0
29
0.00
1.01
0.0
1.1
—
—
—
0
0
9
52
1.87
0.81
2.1
1.6
—
—
—
0
0
0
24
0.00
0.81
0.0
1.6
—
—
—
0
0
0
27
0.00
0.80
0.0
1.9
—
—
—
0
0
15
103
1.63
0.75
6.1
3.6
0.00
0.00
estimate
—
9
35
5
27
1.93
0.70
2.6
3.4
—
—
—
0
0
5
29
1.79
0.65
16.8
3.7
—
—
—
0
0
5
86
0.54
0.62
1.0
1.5
—
—
—
0
0
0
22
0.00
0.60
0.0
1.5
—
—
—
0
0
0
22
0.00
0.60
0.0
1.5
—
—
—
0
0
9
59
1.63
0.59
1.6
1.1
—
—
—
0
0
7
45
1.64
0.51
1.0
2.4
—
—
—
0
0
7
46
1.60
0.51
1.0
2.4
—
—
—
0
0
7
46
1.60
0.51
1.0
2.4
—
—
—
0
0
7
46
1.60
0.51
1.0
2.4
—
—
—
0
0
5
32
1.62
0.43
1.0
2.7
—
—
—
0
0
17
137
1.35
0.38
1.5
1.5
—
—
—
0
0
6
43
1.44
0.36
1.0
2.5
—
—
—
0
0
12
94
1.35
0.31
5.3
3.1
—
—
—
0
0
14
118
1.25
0.22
2.3
1.7
—
—
—
0
0
0
11
0.00
0.21
0.0
1.1
—
—
—
0
0
0
13
0.00
0.21
0.0
6.2
—
—
—
0
0
17
151
1.18
0.16
2.3
2.3
—
—
—
0
0
10
91
1.12
0.04
1.2
1.9
—
—
—
0
0
14
143
0.97
0.00
3.1
2.4
—
—
—
0
0
0
6
0.00
0.00
0.0
1.7
—
—
—
0
0
0
6
0.00
0.00
0.0
1.2
—
108.92
—
0
6
0
5
0.00
-0.00
0.0
3.8
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.8
—
—
—
0
0
0
8
0.00
-0.00
0.0
1.1
—
—
—
0
0
0
8
0.00
-0.00
0.0
2.1
—
1.48
—
0
8
0
7
0.00
-0.00
0.0
2.3
—
4.13
—
0
7
0
5
0.00
-0.00
0.0
12.6
—
0.62
—
0
5
0
5
0.00
-0.00
0.0
1.2
—
234.20
—
0
5
0
7
0.00
-0.00
0.0
3.9
—
402.00
—
0
7
0
5
0.00
-0.00
0.0
20.6
—
810.00
—
0
5
0
8
0.00
-0.00
0.0
3.4
—
102.25
—
0
8
0
5
0.00
-0.00
0.0
23.0
—
1350.60
—
0
5
0
9
0.00
-0.00
0.0
1.0
—
—
—
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: 9

Endpoint
Case Overlap
Survival Analysis
Genetic Correlations
Genetic Signals
N (Jaccard index)
HR [CI]
rg [CI]
Hits
Coloc Hits
FinRegistry
FinnGen
FinRegistry
FinnGen
FinnGen
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