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.']
Endpoint definition
↥
Endpoint definition steps |
FinnGen |
|---|---|
Phenotype data |
520210 |
1. Apply sex-specific ruleNone |
520210 |
2. Check conditionsNone |
520210 |
3. Check pre-conditions, main-only, mode, registry filtersRegistry filters: 2 out of 7 registries used, show all original rules. |
68 |
4. Check minimum number of eventsNone |
68 |
5. Include endpoints |
87 |
6. Filter based on genotype QC (FinnGen only) |
87 |
Control definitions (FinnGen only)
- Control exclude
- E4_METABOLIA
Extra metadata
- Level in the ICD hierarchy
- 3
- First used in FinnGen datafreeze
- DF2
- Parent code in ICD-10
- E70-E90
- Name in latin
- Fibrosis cystica
Similar endpoints
↥List of similar endpoints to
Cystic fibrosis
based on the number of shared cases.
Similar with more cases:
- Metabolic disorders
- Endocrine, nutritional and metabolic diseases
- Any operation in hilmo
- Any event in hilmo or specialist outpatient
- Any prescribed medicine buy
Similar with less cases:
Case counts by codes
↥
Summary Statistics
↥-FinRegistry-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | |||
| Whole population | 672 | 324 | 341 |
| Only index persons | 504 | 255 | 249 |
| Unadjusted period prevalence (%) | |||
| Whole population | 0.01 | 0.01 | 0.01 |
| Only index persons | 0.01 | 0.01 | 0.01 |
| Median age at first event (years) | |||
| Whole population | 51.06 | 55.29 | 46.77 |
| Only index persons | 51.08 | 55.07 | 46.99 |
-FinnGen-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | 87 | 49 | 38 |
| Unadjusted period prevalence (%) | 0.02 | 0.02 | 0.02 |
| Median age at first event (years) | 35.27 | 33.91 | 37.03 |
-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
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.
Matched cohort
- Matched cases
- 79
- Matched controls
- 790
Code
Vocabulary
Description
Odds Ratio
-log10(p)
N matched cases
N matched controls
E84.0
ICD-10 Finland
Cystic fibrosis with pulmonary manifestations
+∞
51.9
44
*
E84.9
ICD-10 Finland
Cystic fibrosis, unspecified
+∞
46.5
40
*
133
Kela drug reimbursment
Severe chronic pancreatic insufficiency
+∞
40.0
35
*
A09AA02
ATC
multienzymes (lipase, protease etc.)
649.5
39.8
36
*
R05CB13
ATC
dornase alfa (desoxyribonuclease); inhalant
+∞
35.0
31
*
304
Kela drug reimbursment
Dornase alfa
+∞
35.0
31
*
E84.1
ICD-10 Finland
Cystic fibrosis with intestinal manifestations
+∞
30.1
27
*
J01GB01
ATC
tobramycin; inhalant, parenteral
+∞
28.9
26
*
NK6QA
NOMESCO Finland
Measurement of bone density from tow or more locations with X-ray
28.8
25.4
35
21
601
Kela drug reimbursment
Severe malabsorption of nutrients, mainly fats
76.0
23.8
26
5
E84.8
ICD-10 Finland
Cystic fibrosis with other manifestations
+∞
23.0
21
*
GD1DD
NOMESCO Finland
High resolution CT examination of lungs
32.5
21.4
28
13
L04AA06
ATC
mycophenolic acid; systemic
246.1
19.5
19
*
2770A
ICD-9 Finland
Other and unspecified disorders of metabolism, Cystic fibrosis
+∞
18.4
17
*
UGC12
NOMESCO Finland
Flexible bronchoscopy
22.1
18.4
27
18
GD1ED
NOMESCO Finland
Extensive high resolution CT examination of lungs
42.6
18.2
22
7
J32.0
ICD-10 Finland
Chronic maxillary sinusitis
17.4
17.3
28
24
Z94.2
ICD-10 Finland
Lung transplant status
+∞
17.3
16
*
J01XB01
ATC
colistin; inhalant, parenteral
+∞
17.3
16
*
E13.9
ICD-10 Finland
Other specified diabetes mellitus, without complications
213.2
17.2
17
*
J18.9
ICD-10 Finland
Pneumonia, unspecified
8.8
16.8
44
98
GD1AA
NOMESCO Finland
Thorax X-ray examination
7.9
16.1
58
204
UDH02
NOMESCO Finland
Rhinopharyngoscopy
16.8
15.5
25
21
J32.4
ICD-10 Finland
Chronic pansinusitis
71.0
15.5
17
*
R4190
NOMESCO Finland
Nutritional therapy
25.4
15.2
21
11
127
Kela drug reimbursment
Transplant complication
45.8
15.2
18
5
GD1CD
NOMESCO Finland
Thorax extensive CT-examination
+∞
15.1
14
*
L04AD02
ATC
tacrolimus; systemic (calcineurin inhibitors)
182.3
15.0
15
*
TGC00
NOMESCO Finland
Bronchial lavation
38.1
14.6
18
6
J01EE01
ATC
sulfamethoxazole and trimethoprim; systemic
21.4
14.4
21
13
GDG10
NOMESCO Finland
Bilateral transplantation of lung
+∞
14.0
13
*
Z71.3
ICD-10 Finland
Dietary counselling and surveillance
24.5
13.7
19
10
GD1PA
NOMESCO Finland
X-ray examination of the lungs in one projection
14.9
13.7
23
21
TDM10
NOMESCO Finland
Puncture of maxillary antrum
20.1
13.5
20
13
203
Kela drug reimbursment
Chronic asthma and similar chronic obstructive pulmonary diseases
7.1
13.4
40
100
UJD10
NOMESCO Finland
Esophagoscopy, gastroscopy and duodenoscopy
6.8
13.4
42
113
E84
ICD-10 Finland
Cystic fibrosis
+∞
12.8
12
*
GD1BT
NOMESCO Finland
Biopsy of lung with X-ray guidance
+∞
12.8
12
*
TGD04
NOMESCO Finland
Needle biopsy of the lungs in bronchoscopy
153.4
12.8
13
*
DM1AA
NOMESCO Finland
Paranasal sinuses X-ray examination without contrast
20.7
12.4
18
11
J01MA12
ATC
levofloxacin; systemic
7.8
12.3
31
60
DMB20
NOMESCO Finland
Functional endoscopic opening of maxillary antrum
15.3
12.2
20
17
GD1UA
NOMESCO Finland
Thorax X-ray examination outside radiological department
8.6
11.7
27
45
J15.9
ICD-10 Finland
Bacterial pneumonia, unspecified
10.7
11.7
23
29
Z31.5
ICD-10 Finland
Genetic counselling
15.2
11.6
19
16
A12AX
ATC
Calcium, combinations with vitamin D and/or other drugs
5.8
11.6
41
123
DM1QA
NOMESCO Finland
Paranasal sinuses X-ray examination in one projection
13.0
11.3
20
20
XG412
NOMESCO Finland
Flow-volume spirometry with bronchospasmolysis
11.5
11.2
21
24
TPH15
NOMESCO Finland
Insertion of central venous catheter through external or internal jugular vein
12.1
10.5
19
20
602
Kela drug reimbursment
Children's severe malnutrition
30.6
10.2
13
5
FXA00
NOMESCO Finland
Total cardiopulmonary bypass in normothermia or moderate hypothermia at concurrent surgical procedure
30.6
10.2
13
5
XG410
NOMESCO Finland
Flow-volume spirometry
12.6
10.2
18
18
R03AK06
ATC
salmeterol and fluticasone; inhalant
7.2
10.1
26
50
J33.0
ICD-10 Finland
Polyp of nasal cavity
18.1
10.0
15
10
J20.9
ICD-10 Finland
Acute bronchitis, unspecified
6.5
10.0
28
61
WX404
NOMESCO Finland
Intravenous generell anesthesy
5.7
9.8
32
84
J84.1
ICD-10 Finland
Other interstitial pulmonary diseases with fibrosis
34.8
9.7
12
*
DM1AI
NOMESCO Finland
Cone beam CT of paranasal sinus
34.8
9.7
12
*
R07AX32
ATC
ivacaftor, tezacaftor and elexacaftor; oral
+∞
9.6
9
*
TFB00
NOMESCO Finland
Cathetrisation of pulmonal artery
+∞
9.6
9
*
3045
Kela drug reimbursment
NA
+∞
9.6
9
*
RS123
NOMESCO Finland
NA
+∞
9.6
9
*
27300
ICD-8 Finland
Other and unspecified congenital disorders of metabolism, Cystic fibrosis (mucoviscidosis)
+∞
9.6
9
*
R07AX02
ATC
ivacaftor; oral
+∞
9.6
9
*
TPX10
NOMESCO Finland
Implantation of vascular injection port
18.5
9.4
14
9
J01CF05
ATC
flucloxacillin; systemic
13.0
9.3
16
15
R4110
NOMESCO Finland
Physiotherapy
5.0
9.3
36
114
UDM02
NOMESCO Finland
Sinoscopy
27.9
9.2
12
5
GD1AD
NOMESCO Finland
Thorax CT examination
13.9
9.0
15
13
R03AC02
ATC
salbutamol; inhalant
4.6
9.0
58
296
WX700
NOMESCO Finland
Respiratory and circulatory monitoring
5.8
8.6
26
61
XX4BW
NOMESCO Finland
NA
100.3
8.6
9
*
J01MA14
ATC
moxifloxacin; systemic
7.7
8.6
20
33
DNB20
NOMESCO Finland
Endoscopic ethmoidectomy
17.0
8.5
13
9
TPH04
NOMESCO Finland
Cathetrisation of vein
5.4
8.5
28
73
B05XA03
ATC
sodium chloride; parenteral
+∞
8.5
8
*
JN1AE
NOMESCO Finland
Ultrasound examination of upper part of abdomen
9.5
8.4
17
22
ZX120
NOMESCO Finland
Intravenous
8.6
8.4
18
26
R04.2
ICD-10 Finland
Haemoptysis
25.1
8.3
11
5
A02BA03
ATC
famotidine; systemic
25.1
8.3
11
5
J01MA02
ATC
ciprofloxacin; systemic
4.1
8.1
42
170
J22
ICD-10 Finland
Unspecified acute lower respiratory infection
11.9
7.9
14
14
FM1AE
NOMESCO Finland
Standard cardiac ultrasound examination
6.4
7.8
21
42
A05AA02
ATC
ursodeoxycholic acid; oral
21.0
7.8
11
6
R05CB02
ATC
bromhexine; systemic
88.0
7.6
8
*
J47
ICD-10 Finland
Bronchiectasis
17.9
7.5
11
7
R03BA05
ATC
fluticasone; inhalant
4.3
7.5
32
108
H02AB06
ATC
prednisolone; systemic
3.8
7.5
47
221
A10AB05
ATC
insulin aspart; parenteral (insulins and analog. for injection, fast-acting)
7.7
7.4
17
27
K90.3
ICD-10 Finland
Pancreatic steatorrhoea
+∞
7.4
7
*
DPA30
NOMESCO Finland
Sphenotomy
+∞
7.4
7
*
WX872
NOMESCO Finland
Intensive care
11.7
7.4
13
13
WX302
NOMESCO Finland
Thoracal epidural anesthesy
11.7
7.4
13
13
NA2AA
NOMESCO Finland
Thoracal spine X-ray examination without contrast
33.4
7.3
9
*
UJF32
NOMESCO Finland
Coloscopy
4.4
7.1
28
87
DPA25
NOMESCO Finland
Trephine of frontal sinus through nose
44.0
6.9
8
*
A07AA02
ATC
nystatin; oral
9.5
6.6
13
16
R01AD08
ATC
fluticasone; nasal
3.7
6.6
36
144
FM1BE
NOMESCO Finland
Cardiac ultrasound examination through oesophagus
10.6
6.6
12
13
Z94.0
ICD-10 Finland
Kidney transplant status
75.7
6.5
7
*
B02AA02
ATC
tranexamic acid; systemic
6.3
6.5
17
33
103
Kela drug reimbursment
Diabetes, insulin-treated
4.1
6.5
28
94
JN1CG
NOMESCO Finland
Extensive MRI examination of upper part of abdomen with high intensity magnet
29.3
6.4
8
*
JN3AE
NOMESCO Finland
Abdominal ultrasound examination
4.6
6.3
23
65
J02AC04
ATC
posaconazole; systemic
+∞
6.3
6
*
V07AB
ATC
Solvents and diluting agents, incl. irrigating solutions
+∞
6.3
6
*
FB1BD
NOMESCO Finland
Extensive CT examination of arteria pulmonalis
7.5
6.2
14
22
SPAT1262
SPAT
Handing over of treatment supplies
4.3
6.1
24
73
UDC00
NOMESCO Finland
Ear microscopy
6.2
6.1
16
31
WX408
NOMESCO Finland
General anesthesy, balanced
3.5
6.1
35
147
R73.9
ICD-10 Finland
Hyperglycaemia, unspecified
16.7
6.1
9
6
TPH20
NOMESCO Finland
Insertion of central venous catheter through subclavian or brachiocephalic vein
16.7
6.1
9
6
DM1AD
NOMESCO Finland
CT of paranasal sinuses and face area
10.4
6.0
11
12
Mortality – FinRegistry
↥Association
Association between endpoint E4_CYSTFIBRO and mortality.
Females
| Parameter | HR [95% CI] | p-value |
|---|---|---|
| E4_CYSTFIBRO | 1.906 [1.37, 2.65] | < 0.001 |
| Birth year | 0.991 [0.98, 1.0] | 0.052 |
During the follow-up period (1.1.1998 — 31.12.2019), 76 out of 217 females with E4_CYSTFIBRO died.
Males
| Parameter | HR [95% CI] | p-value |
|---|---|---|
| E4_CYSTFIBRO | 3.247 [2.14, 4.92] | < 0.001 |
| Birth year | 0.987 [0.98, 1.0] | 0.008 |
During the follow-up period (1.1.1998 — 31.12.2019), 97 out of 225 males with E4_CYSTFIBRO died.
Mortality risk
Mortality risk for people of age
years, who have E4_CYSTFIBRO.| N-year risk | Females | Males |
|---|---|---|
| 1 | 0.193% | 0.647% |
| 5 | 1.046% | 3.558% |
| 10 | 2.484% | 9.085% |
| 15 | 4.779% | 17.249% |
| 20 | 8.026% | 28.099% |
Relationships between endpoints
↥Index endpoint: E4_CYSTFIBRO – Cystic fibrosis
GWS hits: 3
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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