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. |
58 |
4. Check minimum number of eventsNone |
58 |
5. Include endpointsNone |
58 |
6. Filter based on genotype QC (FinnGen only) |
58 |
Control definitions (FinnGen only)
- Control exclude
- E4_METABOLIA
Extra metadata
- Level in the ICD hierarchy
- 4
- First used in FinnGen datafreeze
- DF2
Similar endpoints
↥List of similar endpoints to
Cystic fibrosis, other manifestations/unspecified
based on the number of shared cases.
Similar with more cases:
- Cystic fibrosis
- Metabolic disorders
- Endocrine, nutritional and metabolic diseases
- Any operation in hilmo
- Any event in hilmo or specialist outpatient
Similar with less cases:
Case counts by codes
↥
Summary Statistics
↥-FinRegistry-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | |||
| Whole population | 334 | 163 | 167 |
| Only index persons | 240 | 118 | 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 | 17.26 | 21.54 | 12.15 |
| Only index persons | 16.03 | 20.33 | 11.87 |
-FinnGen-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | 58 | 32 | 26 |
| Unadjusted period prevalence (%) | 0.01 | 0.01 | 0.01 |
| Median age at first event (years) | 10.35 | 14.91 | 4.73 |
-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.
Matched cohort
- Matched cases
- 54
- Matched controls
- 541
Code
Vocabulary
Description
Odds Ratio
-log10(p)
N matched cases
N matched controls
E84.9
ICD-10 Finland
Cystic fibrosis, unspecified
+∞
49.9
40
*
E84.0
ICD-10 Finland
Cystic fibrosis with pulmonary manifestations
+∞
39.5
33
*
304
Kela drug reimbursment
Dornase alfa
+∞
34.0
29
*
R05CB13
ATC
dornase alfa (desoxyribonuclease); inhalant
+∞
34.0
29
*
A09AA02
ATC
multienzymes (lipase, protease etc.)
560.5
31.2
28
*
J01GB01
ATC
tobramycin; inhalant, parenteral
+∞
30.0
26
*
133
Kela drug reimbursment
Severe chronic pancreatic insufficiency
521.1
29.9
27
*
601
Kela drug reimbursment
Severe malabsorption of nutrients, mainly fats
+∞
27.4
24
*
NK6QA
NOMESCO Finland
Measurement of bone density from tow or more locations with X-ray
85.9
27.2
29
7
E84.1
ICD-10 Finland
Cystic fibrosis with intestinal manifestations
+∞
24.9
22
*
E84.8
ICD-10 Finland
Cystic fibrosis with other manifestations
+∞
23.7
21
*
GD1DD
NOMESCO Finland
High resolution CT examination of lungs
48.4
19.5
23
8
2770A
ICD-9 Finland
Other and unspecified disorders of metabolism, Cystic fibrosis
+∞
18.8
17
*
J32.0
ICD-10 Finland
Chronic maxillary sinusitis
34.6
18.6
24
12
J01XB01
ATC
colistin; inhalant, parenteral
+∞
17.6
16
*
J18.9
ICD-10 Finland
Pneumonia, unspecified
15.5
17.5
34
53
L04AA06
ATC
mycophenolic acid; systemic
120.8
16.7
17
*
UGC12
NOMESCO Finland
Flexible bronchoscopy
25.5
15.7
22
14
GD1ED
NOMESCO Finland
Extensive high resolution CT examination of lungs
40.6
15.6
19
7
E13.9
ICD-10 Finland
Other specified diabetes mellitus, without complications
110.8
15.5
16
*
127
Kela drug reimbursment
Transplant complication
110.8
15.5
16
*
Z94.2
ICD-10 Finland
Lung transplant status
+∞
15.3
14
*
J32.4
ICD-10 Finland
Chronic pansinusitis
202.6
15.3
15
*
UDH02
NOMESCO Finland
Rhinopharyngoscopy
20.9
14.6
22
17
L04AD02
ATC
tacrolimus; systemic (calcineurin inhibitors)
+∞
14.2
13
*
GD1CD
NOMESCO Finland
Thorax extensive CT-examination
+∞
14.2
13
*
TDM10
NOMESCO Finland
Puncture of maxillary antrum
32.7
14.0
18
8
DMB20
NOMESCO Finland
Functional endoscopic opening of maxillary antrum
32.7
14.0
18
8
XG410
NOMESCO Finland
Flow-volume spirometry
32.7
14.0
18
8
GD1AA
NOMESCO Finland
Thorax X-ray examination
10.4
13.9
40
116
J01MA12
ATC
levofloxacin; systemic
12.7
13.7
27
39
DM1QA
NOMESCO Finland
Paranasal sinuses X-ray examination in one projection
34.4
13.5
17
7
GD1PA
NOMESCO Finland
X-ray examination of the lungs in one projection
18.2
13.3
21
18
XG412
NOMESCO Finland
Flow-volume spirometry with bronchospasmolysis
21.7
13.0
19
13
TGD04
NOMESCO Finland
Needle biopsy of the lungs in bronchoscopy
+∞
13.0
12
*
GDG10
NOMESCO Finland
Bilateral transplantation of lung
+∞
13.0
12
*
J33.0
ICD-10 Finland
Polyp of nasal cavity
50.6
13.0
15
*
TGC00
NOMESCO Finland
Bronchial lavation
40.4
12.4
15
5
R4110
NOMESCO Finland
Physiotherapy
9.3
12.4
32
73
203
Kela drug reimbursment
Chronic asthma and similar chronic obstructive pulmonary diseases
9.4
12.2
30
63
GD1BT
NOMESCO Finland
Biopsy of lung with X-ray guidance
+∞
11.9
11
*
GD1UA
NOMESCO Finland
Thorax X-ray examination outside radiological department
16.5
11.7
19
17
R4190
NOMESCO Finland
Nutritional therapy
18.6
11.7
18
14
J01EE01
ATC
sulfamethoxazole and trimethoprim; systemic
18.6
11.7
18
14
602
Kela drug reimbursment
Children's severe malnutrition
55.7
11.5
13
*
J15.9
ICD-10 Finland
Bacterial pneumonia, unspecified
16.2
11.1
18
16
E84
ICD-10 Finland
Cystic fibrosis
+∞
10.8
10
*
J01CF05
ATC
flucloxacillin; systemic
22.4
10.6
15
9
A12AX
ATC
Calcium, combinations with vitamin D and/or other drugs
7.7
10.6
30
75
Z71.3
ICD-10 Finland
Dietary counselling and surveillance
18.3
10.5
16
12
FXA00
NOMESCO Finland
Total cardiopulmonary bypass in normothermia or moderate hypothermia at concurrent surgical procedure
50.2
10.5
12
*
UJD10
NOMESCO Finland
Esophagoscopy, gastroscopy and duodenoscopy
7.7
10.2
28
66
GD1AD
NOMESCO Finland
Thorax CT examination
27.8
9.9
13
6
DNB20
NOMESCO Finland
Endoscopic ethmoidectomy
37.7
9.9
12
*
R04.2
ICD-10 Finland
Haemoptysis
120.2
9.8
10
*
J01MA02
ATC
ciprofloxacin; systemic
6.6
9.7
34
110
XX4BW
NOMESCO Finland
NA
+∞
9.7
9
*
27300
ICD-8 Finland
Other and unspecified congenital disorders of metabolism, Cystic fibrosis (mucoviscidosis)
+∞
9.7
9
*
R07AX32
ATC
ivacaftor, tezacaftor and elexacaftor; oral
+∞
9.7
9
*
3045
Kela drug reimbursment
NA
+∞
9.7
9
*
R07AX02
ATC
ivacaftor; oral
+∞
9.7
9
*
A10AB05
ATC
insulin aspart; parenteral (insulins and analog. for injection, fast-acting)
16.7
9.6
15
12
DM1AA
NOMESCO Finland
Paranasal sinuses X-ray examination without contrast
30.1
9.4
12
5
ZX120
NOMESCO Finland
Intravenous
12.8
9.1
16
17
J20.9
ICD-10 Finland
Acute bronchitis, unspecified
8.1
9.0
22
42
J84.1
ICD-10 Finland
Other interstitial pulmonary diseases with fibrosis
60.1
9.0
10
*
J01MA14
ATC
moxifloxacin; systemic
11.4
8.6
16
19
TFB00
NOMESCO Finland
Cathetrisation of pulmonal artery
+∞
8.5
8
*
B05XA03
ATC
sodium chloride; parenteral
+∞
8.5
8
*
DPA25
NOMESCO Finland
Trephine of frontal sinus through nose
+∞
8.5
8
*
R05CB02
ATC
bromhexine; systemic
+∞
8.5
8
*
RS123
NOMESCO Finland
NA
+∞
8.5
8
*
R03BA05
ATC
fluticasone; inhalant
6.9
8.5
24
56
WX872
NOMESCO Finland
Intensive care
21.5
8.5
12
7
TPH15
NOMESCO Finland
Insertion of central venous catheter through external or internal jugular vein
12.5
8.5
15
16
WX302
NOMESCO Finland
Thoracal epidural anesthesy
18.8
8.2
12
8
WX404
NOMESCO Finland
Intravenous generell anesthesy
6.5
8.2
24
59
Z3226
NOMESCO Finland
Physiotherapist
6.6
8.1
23
54
UDM02
NOMESCO Finland
Sinoscopy
22.5
8.0
11
6
A05AA02
ATC
ursodeoxycholic acid; oral
22.5
8.0
11
6
DM1AI
NOMESCO Finland
Cone beam CT of paranasal sinus
30.0
7.9
10
*
Z31.5
ICD-10 Finland
Genetic counselling
12.1
7.9
14
15
R03AC02
ATC
salbutamol; inhalant
5.7
7.8
41
192
TPX10
NOMESCO Finland
Implantation of vascular injection port
15.0
7.5
12
10
R03AK06
ATC
salmeterol and fluticasone; inhalant
7.1
7.4
19
38
Z3229
NOMESCO Finland
Other healthcare associate professional
9.0
7.1
15
22
ZXA10
NOMESCO Finland
Bilateral
6.1
7.1
21
51
DM1AD
NOMESCO Finland
CT of paranasal sinuses and face area
20.0
7.0
10
6
R03BA02
ATC
budesonide; inhalant
5.8
7.0
22
57
4730A
ICD-9 Finland
Chronic sinusitis, Maxillary
46.0
7.0
8
*
GD1BD
NOMESCO Finland
Thorax extensive CT-examination
26.4
6.9
9
*
FM1AE
NOMESCO Finland
Standard cardiac ultrasound examination
7.6
6.8
16
28
JN1AE
NOMESCO Finland
Ultrasound examination of upper part of abdomen
10.3
6.8
13
16
FM1BE
NOMESCO Finland
Cardiac ultrasound examination through oesophagus
17.1
6.7
10
7
ZXE50
NOMESCO Finland
More than nine and less than 12 hours
78.8
6.6
7
*
WX700
NOMESCO Finland
Respiratory and circulatory monitoring
7.1
6.5
16
30
WX408
NOMESCO Finland
General anesthesy, balanced
4.8
6.5
26
88
A02BA03
ATC
famotidine; systemic
30.7
6.4
8
*
K90.3
ICD-10 Finland
Pancreatic steatorrhoea
+∞
6.4
6
*
V07AB
ATC
Solvents and diluting agents, incl. irrigating solutions
+∞
6.4
6
*
J02AC04
ATC
posaconazole; systemic
+∞
6.4
6
*
DPA30
NOMESCO Finland
Sphenotomy
+∞
6.4
6
*
JN3AE
NOMESCO Finland
Abdominal ultrasound examination
5.9
6.2
18
42
TPH04
NOMESCO Finland
Cathetrisation of vein
5.0
6.2
22
65
Mortality – FinRegistry
↥Association
Association between endpoint E4_CYSTFIBRO_NAS and mortality.
Females
No dataMales
No dataMortality risk
Mortality risk for people of age
years, who have E4_CYSTFIBRO_NAS.| N-year risk | Females | Males |
|---|---|---|
| 1 | No data | No data |
| 5 | No data | No data |
| 10 | No data | No data |
| 15 | No data | No data |
| 20 | No data | No data |
Relationships between endpoints
↥Index endpoint: E4_CYSTFIBRO_NAS – Cystic fibrosis, other manifestations/unspecified
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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