This is a non-core endpoint: only basic statistics are computed.
See these related core endpoints for full statistics:
Cystic fibrosis with pulmonary manifestations
E4_CYSFIBRO_PUL
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
↥Report an error or suggest an improvement for this endpoint codes
Endpoint definition steps |
FinnGen |
|---|---|
Phenotype data |
557745 |
1. Apply sex-specific ruleNone |
557745 |
2. Check conditionsNone |
557745 |
3. Check pre-conditions, main-only, mode, registry filtersRegistry filters: 2 out of 7 registries used, show all original rules. |
51 |
4. Check minimum number of eventsNone |
51 |
5. Include endpointsNone |
51 |
6. Filter based on genotype QC (FinnGen only) |
48 |
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 pulmonalibus
Similar endpoints
↥List of similar endpoints to
Cystic fibrosis with pulmonary manifestations
based on the number of shared cases.
Similar with more cases:
- Cystic fibrosis
- Metabolic disorders
- Endocrine, nutritional and metabolic diseases
- Factors influencing health status and contact with health services
- Any operation in hilmo
Similar with less cases:
Case counts by codes
↥
Summary Statistics
↥-FinRegistry-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | |||
| Whole population | 234 | 117 | 115 |
| Only index persons | 195 | 103 | 92 |
| 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 | 26.39 | 33.91 | 18.12 |
| Only index persons | 27.69 | 33.91 | 20.71 |
-FinnGen-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | 48 | 24 | 24 |
| Unadjusted period prevalence (%) | 0.01 | 0.01 | 0.01 |
| Median age at first event (years) | 14.90 | 12.63 | 17.16 |
-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
Not a core endpoint, no data to show.
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.
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
cases
controls
unit
-log10(p)
N cases
N controls
36
24
53.77
45.74
22.9
8.2
7.19
6.60
mmol/l
0.21
36
24
36
40
31.15
34.09
5.0
1.5
—
—
—
0
0
35
39
28.91
32.93
5.5
1.5
—
—
—
0
0
32
31
27.87
32.55
4.1
1.3
115.56
852.02
u/ml
0.54
32
31
31
7
114.56
30.33
6.3
1.6
—
—
—
0
0
38
56
26.77
29.54
6.6
1.8
—
—
—
0
0
29
9
75.20
26.43
5.6
1.4
—
—
—
0
0
29
9
75.20
26.43
5.0
1.3
—
—
—
0
0
29
36
18.29
24.58
11.7
13.7
103.21
105.47
mmol/l
1.06
29
36
26
7
76.03
23.89
5.1
1.4
—
—
—
0
0
25
6
81.67
23.31
5.1
1.0
—
—
—
0
0
24
5
90.54
22.77
4.7
1.2
—
—
—
0
0
26
11
48.08
21.66
5.3
1.0
—
—
—
0
0
24
7
64.65
21.46
4.9
1.6
—
—
—
0
0
30
24
30.16
21.14
4.2
1.1
—
—
—
0
0
16
0
+∞
17.76
3.7
0.0
53.06
—
ug/l
—
16
0
44
141
21.66
16.50
22.0
6.9
1.21
1.21
mmol/l
0.31
44
127
21
11
32.07
16.04
33.1
2.9
115.17
—
iu/ml
—
6
0
14
0
+∞
15.40
4.3
0.0
—
—
—
0
0
34
87
10.50
15.19
6.1
1.5
0.63
0.80
mg/l
0.53
24
55
40
120
13.62
14.51
12.7
2.4
2.32
2.36
mmol/l
1.33
40
113
43
159
14.85
13.51
13.0
2.5
73.86
72.25
nmol/l
0.18
43
148
40
137
11.39
12.69
11.0
2.3
25.20
29.21
u/l
0.83
40
131
32
97
7.63
11.42
4.5
2.0
2.82
2.48
mg/l
0.46
32
83
14
6
31.71
10.98
4.4
1.0
—
—
—
0
0
14
6
31.71
10.98
2.9
1.5
—
—
—
0
0
10
0
+∞
10.80
24.4
0.0
—
—
—
0
0
14
7
27.15
10.53
4.5
1.0
—
—
—
0
0
43
197
10.62
9.98
20.6
5.5
6.64
6.27
mmol/l
0.60
43
179
22
62
5.62
7.99
7.6
3.0
1.75
1.54
e6/l
0.07
16
35
15
20
10.28
7.62
2.6
1.8
—
—
—
0
0
7
0
+∞
7.47
1.3
0.0
—
—
—
0
0
15
23
8.89
7.02
8.6
2.3
1.22
1.22
mmol/l
0.05
15
18
9
5
21.52
6.53
1.1
1.4
—
—
—
0
0
32
141
4.66
6.38
11.2
3.2
—
—
—
0
0
6
0
+∞
6.37
6.5
0.0
—
—
—
0
0
14
23
8.06
6.27
4.1
1.7
—
—
—
0
0
9
6
17.92
6.17
4.9
1.8
—
—
—
0
0
11
14
9.76
5.71
5.2
6.8
1.57
1.29
mg/l
0.33
11
14
13
22
7.63
5.70
13.5
18.3
25.96
24.81
mmol/l
0.38
13
22
5
0
+∞
5.29
2.6
0.0
177.20
—
u/l
—
5
0
5
0
+∞
5.29
2.6
0.0
40.40
—
u/l
—
5
0
25
104
3.87
5.14
5.4
2.7
33.39
31.83
ng/l
0.03
17
59
8
7
13.32
4.98
1.3
1.3
—
—
—
0
0
36
196
4.15
4.89
6.9
3.0
92.75
84.84
ug/l
0.15
36
185
7
5
15.97
4.72
5.4
1.2
14.09
4.06
pmol/l
—
7
5
10
17
7.08
4.40
1.4
1.1
—
—
—
0
0
11
23
5.84
4.17
11.2
3.8
23.19
23.67
mmol/l
0.19
11
23
7
8
9.95
3.91
2.1
1.3
—
—
—
0
0
17
65
3.47
3.79
6.9
2.9
0.28
0.46
e6/l
0.55
12
37
42
292
4.06
3.73
11.9
2.7
37.64
34.63
u/l
0.17
42
280
35
208
3.39
3.73
7.1
3.2
0.00
0.00
estimate
-0.00
15
47
35
210
3.33
3.63
7.1
3.2
0.00
0.00
estimate
-0.00
14
48
12
33
4.47
3.60
4.8
3.4
—
—
—
0
0
35
212
3.28
3.53
7.0
3.3
0.00
0.00
estimate
-0.00
15
45
8
14
6.59
3.50
2.8
1.3
—
—
—
0
0
6
7
9.54
3.36
3.7
2.6
15.53
14.80
%
—
6
7
25
133
2.80
3.07
2.0
1.6
0.52
1.25
u/ml
—
6
22
8
18
5.09
2.94
16.4
21.3
0.69
0.74
%
—
8
18
12
41
3.54
2.88
2.7
2.6
24.17
27.75
u/l
—
6
36
5
6
9.09
2.81
2.0
1.3
—
—
—
0
0
8
20
4.56
2.70
16.4
19.6
1.35
1.83
%
—
8
20
6
156
0.30
2.50
1.7
1.8
—
—
—
0
0
14
60
2.87
2.50
2.2
1.7
634.36
422.04
pmol/l
1.18
14
48
6
12
5.53
2.48
10.2
3.8
24.70
23.63
mmol/l
—
6
12
16
77
2.60
2.28
5.2
2.6
—
—
—
0
0
5
9
6.04
2.27
1.8
1.3
—
—
—
0
0
5
9
6.04
2.27
7.8
8.0
56.12
54.60
%
—
5
9
27
172
2.27
2.04
5.4
2.7
—
—
estimate
—
0
0
6
16
4.12
2.00
2.3
1.3
0.23
0.22
g/l
—
6
16
6
16
4.12
2.00
2.3
1.4
1.03
1.16
g/l
—
6
16
26
165
2.23
1.97
5.5
2.8
0.00
0.00
estimate
-0.00
13
37
5
12
4.50
1.87
2.4
1.1
—
—
—
0
0
22
133
2.19
1.85
2.6
1.7
86.22
100.98
pmol/l
0.98
15
74
21
126
2.17
1.79
5.6
2.3
0.00
0.00
estimate
-0.00
14
37
20
121
2.10
1.64
6.1
3.3
0.00
0.00
estimate
-0.00
13
45
43
356
2.69
1.60
8.0
3.5
6.17
5.59
mmol/l
1.82
43
329
43
362
2.53
1.44
5.3
3.6
—
—
—
0
0
0
30
0.00
1.01
0.0
1.6
—
58.39
—
0
23
0
27
0.00
0.80
0.0
1.5
—
1.05
—
0
13
0
27
0.00
0.80
0.0
1.8
—
—
—
0
0
0
27
0.00
0.80
0.0
1.5
—
0.86
—
0
13
0
27
0.00
0.80
0.0
1.5
—
1.00
—
0
13
5
87
0.53
0.63
2.2
2.5
—
—
—
0
0
0
15
0.00
0.42
0.0
1.8
—
—
—
0
0
5
37
1.39
0.24
1.2
1.3
—
—
—
0
0
5
40
1.28
0.23
5.4
4.2
32.40
29.29
%
—
5
31
0
10
0.00
0.21
0.0
1.0
—
—
—
0
0
11
132
0.79
0.21
1.5
3.0
—
—
—
0
0
0
13
0.00
0.21
0.0
1.5
—
—
—
0
0
12
117
1.03
0.00
1.5
2.9
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
7
0.00
-0.00
0.0
1.0
—
13.86
—
0
7
8
81
0.99
-0.00
1.6
1.4
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
7
0.00
-0.00
0.0
1.1
—
—
—
0
0
0
8
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
7
0.00
-0.00
0.0
1.1
—
—
—
0
0
0
9
0.00
-0.00
0.0
1.1
—
291.33
—
0
9
Mortality – FinRegistry
↥Association
Association between endpoint E4_CYSFIBRO_PUL and mortality.
Females
No dataMales
No dataMortality risk
Mortality risk for people of age
years, who have E4_CYSFIBRO_PUL.| 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_CYSFIBRO_PUL – Cystic fibrosis with pulmonary 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
FinnGen
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