No definition available.
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. |
129 |
4. Check minimum number of eventsNone |
129 |
5. Include endpointsNone |
129 |
6. Filter based on genotype QC (FinnGen only) |
129 |
Control definitions (FinnGen only)
- Control exclude
- D3_IMMUNEMECHANISM
Extra metadata
- Level in the ICD hierarchy
- 4
- First used in FinnGen datafreeze
- DF2
Similar endpoints
↥List of similar endpoints to
Other or unspecified immunodeficiency
based on the number of shared cases.
Similar with more cases:
- Other immunodeficiencies
- Immunodeficiencies
- Certain disorders involving the immune mechanism
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism
- Any event in hilmo or specialist outpatient
Similar with less cases:
None
Case counts by codes
↥
Summary Statistics
↥-FinRegistry-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | |||
| Whole population | 792 | 445 | 340 |
| Only index persons | 679 | 396 | 283 |
| 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 | 41.63 | 44.77 | 37.09 |
| Only index persons | 41.98 | 44.85 | 37.96 |
-FinnGen-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | 129 | 80 | 49 |
| Unadjusted period prevalence (%) | 0.03 | 0.03 | 0.02 |
| Median age at first event (years) | 45.28 | 45.49 | 44.94 |
-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
- 113
- Matched controls
- 1128
Code
Vocabulary
Description
Odds Ratio
-log10(p)
N matched cases
N matched controls
D84.9
ICD-10 Finland
Immunodeficiency, unspecified
+∞
105.2
84
*
D84.8
ICD-10 Finland
Other specified immunodeficiencies
+∞
36.4
33
*
GD1DD
NOMESCO Finland
High resolution CT examination of lungs
25.7
22.9
32
17
J01MA12
ATC
levofloxacin; systemic
8.0
19.2
50
101
GD1AA
NOMESCO Finland
Thorax X-ray examination
6.3
18.2
81
323
J06BA01
ATC
immunoglobulins, normal human, for extravascular adm.; systemic
+∞
18.2
17
*
D80.1
ICD-10 Finland
Nonfamilial hypogammaglobulinaemia
+∞
18.2
17
*
DM1QA
NOMESCO Finland
Paranasal sinuses X-ray examination in one projection
18.5
16.3
25
17
120
Kela drug reimbursment
Hypogammaglobulinaemia
+∞
16.0
15
*
D80.9
ICD-10 Finland
Immunodeficiency with predominantly antibody defects, unspecified
+∞
16.0
15
*
J32.0
ICD-10 Finland
Chronic maxillary sinusitis
9.7
15.5
33
46
J45.0
ICD-10 Finland
Predominantly allergic asthma
8.9
15.1
34
52
J45.9
ICD-10 Finland
Asthma, unspecified
6.3
15.1
46
110
D80.3
ICD-10 Finland
Selective deficiency of immunoglobulin G [IgG] subclasses
+∞
14.9
14
*
TDM10
NOMESCO Finland
Puncture of maxillary antrum
13.1
14.7
26
25
UGC12
NOMESCO Finland
Flexible bronchoscopy
13.1
14.7
26
25
GD1ED
NOMESCO Finland
Extensive high resolution CT examination of lungs
28.1
14.3
19
8
J01MA14
ATC
moxifloxacin; systemic
8.7
13.8
31
47
J47
ICD-10 Finland
Bronchiectasis
78.9
12.9
14
*
NK6QA
NOMESCO Finland
Measurement of bone density from tow or more locations with X-ray
11.4
12.8
24
26
6BA02
NOMESCO Finland
NA
145.2
12.7
13
*
J45.1
ICD-10 Finland
Nonallergic asthma
8.3
12.6
29
45
J18.9
ICD-10 Finland
Pneumonia, unspecified
5.0
12.4
47
140
R03AK06
ATC
salmeterol and fluticasone; inhalant
6.0
12.0
36
81
203
Kela drug reimbursment
Chronic asthma and similar chronic obstructive pulmonary diseases
5.0
11.9
44
127
A12AX
ATC
Calcium, combinations with vitamin D and/or other drugs
4.4
11.8
55
200
H02AB07
ATC
prednisone; oral
5.6
11.6
37
90
R03DC03
ATC
montelukast; oral
5.0
11.5
42
119
R03AC02
ATC
salbutamol; inhalant
4.3
11.4
86
477
TPH04
NOMESCO Finland
Cathetrisation of vein
4.5
11.2
47
153
WW200
NOMESCO Finland
Immunization
15.0
11.1
18
14
GD1BD
NOMESCO Finland
Thorax extensive CT-examination
11.9
11.0
20
20
DMB20
NOMESCO Finland
Functional endoscopic opening of maxillary antrum
8.7
10.7
23
32
TGC00
NOMESCO Finland
Bronchial lavation
21.3
10.6
15
8
D84.18
ICD-10 Finland
Other specified defect in the complement system
+∞
10.6
10
*
DM1AA
NOMESCO Finland
Paranasal sinuses X-ray examination without contrast
10.8
10.5
20
22
R03BA05
ATC
fluticasone; inhalant
4.6
10.5
41
123
J01FF01
ATC
clindamycin; systemic
4.1
10.5
51
187
H02AB06
ATC
prednisolone; systemic
3.8
10.4
73
363
UDH02
NOMESCO Finland
Rhinopharyngoscopy
7.7
10.3
24
38
J01MA02
ATC
ciprofloxacin; systemic
3.8
10.2
60
260
R03AK04
ATC
salbutamol and sodium cromoglicate; inhalant
108.6
9.6
10
*
D80.8
ICD-10 Finland
Other immunodeficiencies with predominantly antibody defects
+∞
9.5
9
*
R4110
NOMESCO Finland
Physiotherapy
3.9
9.4
48
181
R03AC12
ATC
salmeterol; inhalant
14.2
9.2
15
12
C01CA24
ATC
epinephrine; parenteral
6.8
9.1
23
41
J01EE01
ATC
sulfamethoxazole and trimethoprim; systemic
7.1
8.7
21
35
H02AB04
ATC
methylprednisolone; systemic
4.7
8.6
31
84
XG410
NOMESCO Finland
Flow-volume spirometry
12.1
8.6
15
14
R03BB04
ATC
tiotropium bromide; inhalant
6.9
8.5
21
36
R03AL02
ATC
salbutamol and ipratropium bromide; inhalant
+∞
8.4
8
*
ZX120
NOMESCO Finland
Intravenous
5.1
8.3
27
65
J01CR02
ATC
amoxicillin and beta-lactamase inhibitor; systemic
3.3
8.2
77
446
Z01.8
ICD-10 Finland
Other specified special examinations
3.7
8.1
41
150
R03AK07
ATC
formoterol and budesonide; inhalant
3.7
7.8
40
147
J01.0
ICD-10 Finland
Acute maxillary sinusitis
3.4
7.5
43
172
J84.1
ICD-10 Finland
Other interstitial pulmonary diseases with fibrosis
85.3
7.5
8
*
UJF30
NOMESCO Finland
Ileoscopy through colon
5.1
7.5
24
57
DM1AD
NOMESCO Finland
CT of paranasal sinuses and face area
8.3
7.5
16
22
JN1AE
NOMESCO Finland
Ultrasound examination of upper part of abdomen
5.7
7.4
21
43
A07AA02
ATC
nystatin; oral
6.9
7.4
18
30
J01DA06
ATC
[U] cefuroxime; systemic
4.2
7.3
29
86
JN3BD
NOMESCO Finland
Extensive abdominal CT
4.9
7.3
24
59
J01FA06
ATC
roxithromycin; oral
3.0
7.2
60
309
R06.0
ICD-10 Finland
Dyspnoea
3.4
7.2
39
150
A49.9
ICD-10 Finland
Bacterial infection, unspecified
5.2
7.1
22
50
NA3AA
NOMESCO Finland
Lumbar spine X-ray examination without contrast
5.7
7.1
20
41
ZXA05
NOMESCO Finland
Left side
3.3
6.9
40
161
J15.9
ICD-10 Finland
Bacterial pneumonia, unspecified
5.6
6.7
19
39
R01AD09
ATC
mometasone; nasal
2.8
6.7
64
356
UJD10
NOMESCO Finland
Esophagoscopy, gastroscopy and duodenoscopy
3.0
6.7
47
216
Z31.5
ICD-10 Finland
Genetic counselling
5.5
6.6
19
40
J06.9
ICD-10 Finland
Acute upper respiratory infection, unspecified
2.8
6.5
70
414
R03DA04
ATC
theophylline; systemic, rectal
9.0
6.5
13
16
XQ800
NOMESCO Finland
Prick test
4.3
6.5
24
66
GCA98
NOMESCO Finland
Other bronchoscopic procedure on bronchus
73.7
6.5
7
*
XF400
NOMESCO Finland
ECG with 12 standard connections
3.6
6.3
30
103
J31.0
ICD-10 Finland
Chronic rhinitis
4.9
6.3
20
47
J84.8
ICD-10 Finland
Other specified interstitial pulmonary diseases
28.4
6.3
8
*
D84.19
ICD-10 Finland
Unspecified defect in the complement system
+∞
6.3
6
*
D84.1
ICD-10 Finland
Defects in the complement system
+∞
6.3
6
*
D02AE01
ATC
carbamide; topical
5.4
6.2
18
38
A01AB04
ATC
amphotericin B; local oral
9.4
6.2
12
14
XG412
NOMESCO Finland
Flow-volume spirometry with bronchospasmolysis
6.0
6.1
16
30
E0000UV
ATC
NA
2.7
6.1
58
313
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
45
9
75.74
40.87
2.9
1.3
—
—
—
0
0
32
7
60.10
28.02
4.0
1.3
509.1
898.9
u/ml
—
32
7
27
25
13.39
26.00
5.1
2.0
—
—
—
0
0
31
40
9.89
23.63
3.4
1.6
0.2
0.2
g/l
0.20
31
40
36
66
7.18
20.17
2.9
1.5
—
—
—
0
0
52
140
5.55
19.41
3.2
1.7
—
—
—
0
0
19
17
12.93
18.42
2.0
1.2
—
—
—
0
0
42
99
5.81
18.07
2.8
1.6
—
—
—
0
0
41
99
5.61
17.10
2.4
1.5
—
—
—
0
0
24
44
6.47
13.15
2.4
1.4
—
—
—
0
0
30
74
4.98
11.91
6.6
7.1
1.8
1.6
mmol/l
0.16
22
58
17
24
8.01
11.72
3.4
1.4
—
—
—
0
0
83
429
3.62
11.33
4.3
2.6
75.7
78.1
nmol/l
0.34
78
380
17
25
7.68
11.31
3.6
1.5
—
—
—
0
0
15
7
24.00
10.97
2.7
1.4
—
—
—
0
0
11
10
11.93
10.30
9.5
3.4
—
—
—
0
0
72
360
3.26
10.00
6.6
3.3
—
—
—
0
0
14
20
7.73
9.49
1.6
1.2
—
—
—
0
0
14
20
7.73
9.49
2.5
1.4
—
—
—
0
0
38
134
3.60
9.21
4.5
2.4
21.0
23.0
%
0.36
31
115
11
12
9.93
9.11
3.4
1.2
—
—
—
0
0
43
166
3.39
9.04
4.4
3.2
1.2
2.2
e6/l
0.74
27
90
71
368
3.07
9.01
7.0
3.2
31.1
31.5
u/l
0.04
71
346
12
16
8.17
8.56
1.9
1.5
—
—
—
0
0
59
293
2.87
7.84
5.1
3.2
0.1
0.3
e6/l
0.81
47
218
18
41
4.94
7.70
3.4
1.2
42.1
42.0
u/l
0.01
18
34
30
103
3.49
7.46
2.9
2.4
357.4
376.2
nmol/l
0.20
30
94
15
31
5.34
7.13
1.4
2.0
—
—
—
0
0
12
20
6.51
7.04
1.1
1.5
—
—
—
0
0
12
20
6.51
7.04
1.1
1.5
—
—
—
0
0
14
28
5.49
6.88
2.1
1.4
1.7
0.0
iu/ml
—
6
5
41
178
2.91
6.85
4.0
3.0
1.3
0.8
e6/l
0.26
25
100
79
479
2.68
6.82
16.3
7.0
1.2
1.2
mmol/l
1.27
73
413
10
14
7.66
6.80
2.8
1.3
—
—
—
0
0
19
54
3.95
6.15
2.0
1.3
—
—
—
0
0
12
24
5.41
5.87
1.5
1.4
—
—
—
0
0
64
371
2.44
5.79
2.3
1.8
91.4
101.6
pmol/l
0.98
40
174
39
179
2.69
5.77
4.3
3.0
1052.9
236.6
ng/l
0.52
22
122
47
237
2.55
5.74
4.7
3.3
1882.3
896.3
ng/l
0.94
41
192
17
48
3.93
5.54
2.1
1.6
—
—
—
0
0
9
9
10.64
5.11
2.9
1.1
—
—
—
0
0
12
30
4.31
4.55
5.8
4.5
26.1
23.9
mmol/l
0.69
12
23
8
9
9.38
4.34
2.9
4.8
27.8
25.8
umol/l
—
8
9
9
13
7.35
4.24
2.1
1.3
—
—
—
0
0
124
1093
4.47
3.99
45.7
12.1
21.5
20.9
mg/l
0.09
107
829
8
11
7.67
3.92
4.8
1.5
—
—
—
0
0
9
15
6.36
3.89
1.2
1.2
—
—
—
0
0
9
15
6.36
3.89
2.1
1.4
—
—
—
0
0
9
16
5.96
3.73
3.6
1.3
—
—
—
0
0
12
35
3.68
3.72
1.3
1.4
—
—
—
0
0
10
26
4.09
3.59
1.9
2.2
—
—
—
0
0
43
249
2.09
3.57
2.7
2.3
—
—
—
0
0
8
13
6.48
3.56
2.0
2.2
—
—
—
0
0
8
13
6.48
3.56
2.5
1.2
—
—
—
0
0
74
523
1.97
3.49
5.1
3.6
0.0
0.0
estimate
0.00
13
101
71
502
1.92
3.27
5.7
4.1
—
—
—
0
0
11
33
3.55
3.27
1.5
1.3
—
—
—
0
0
10
28
3.79
3.26
2.2
1.7
—
—
—
0
0
8
15
5.61
3.24
4.9
1.4
—
—
—
0
0
73
525
1.90
3.16
7.6
5.0
0.0
0.0
estimate
0.00
12
103
119
1025
3.08
3.15
38.9
13.7
38.7
40.2
%
1.44
101
816
6
8
7.79
3.09
3.0
1.3
—
—
—
0
0
99
797
2.04
2.96
4.9
3.6
—
—
—
0
0
102
830
2.09
2.96
4.7
4.0
14.7
14.6
pmol/l
0.03
97
760
73
535
1.84
2.88
5.2
3.6
0.0
0.0
estimate
0.00
13
97
10
31
3.41
2.84
1.6
1.9
—
—
—
0
0
8
19
4.41
2.72
1.4
1.1
—
—
—
0
0
111
944
2.26
2.69
48.5
15.4
14.0
13.6
%
1.17
111
933
8
20
4.19
2.61
2.8
1.6
—
—
—
0
0
5
7
7.37
2.57
1.0
1.0
—
—
—
0
0
124
1141
3.24
2.34
42.9
13.4
82.4
72.5
umol/l
1.39
124
1141
50
345
1.73
2.29
5.7
3.0
24.0
38.1
ng/l
0.54
34
207
5
9
5.73
2.23
3.4
1.0
—
—
—
0
0
5
9
5.73
2.23
2.0
1.2
—
—
—
0
0
5
9
5.73
2.23
3.4
1.0
—
—
—
0
0
6
14
4.44
2.17
1.3
1.1
—
—
—
0
0
112
979
2.09
2.16
33.2
10.9
83.7
86.7
ml/min/173m2
0.59
97
777
10
37
2.85
2.16
3.6
5.6
1.2
1.4
%
—
10
37
8
25
3.34
2.13
1.0
1.1
—
—
—
0
0
17
83
2.21
2.12
8.1
3.4
—
—
—
0
0
7
24
3.02
1.75
1.1
1.2
—
1.4
—
0
14
38
260
1.65
1.74
5.6
4.0
66.5
11.7
mg/mmol
1.19
27
163
5
13
3.95
1.73
1.4
1.2
—
—
—
0
0
9
37
2.54
1.51
1.2
1.2
—
—
—
0
0
9
39
2.40
1.46
13.7
8.7
1.2
1.2
%
—
9
39
10
46
2.27
1.44
1.9
1.6
257.2
276.9
miu/ml
—
5
26
5
19
2.69
1.22
1.0
1.1
—
0.8
—
0
9
36
263
1.51
1.22
1.9
1.7
—
—
—
0
0
52
410
1.45
1.21
5.8
3.5
—
—
—
0
0
8
38
2.18
1.21
7.1
5.7
45.5
45.1
%
—
8
38
8
40
2.06
1.14
1.3
1.1
—
—
—
0
0
8
40
2.06
1.14
9.0
2.4
—
—
—
0
0
8
41
2.01
1.11
6.4
3.8
11.1
3486.0
u/ml
—
8
36
8
41
2.01
1.11
1.3
1.1
—
—
—
0
0
16
99
1.70
1.06
2.2
2.0
—
—
—
0
0
104
947
1.51
1.03
6.8
5.2
38.9
38.7
mmol/mol
0.10
97
890
7
36
2.00
0.98
5.3
1.8
—
—
—
0
0
7
37
1.94
0.95
6.1
2.0
—
—
—
0
0
106
983
1.44
0.81
6.0
4.7
1.9
1.9
mu/l
0.09
100
906
36
288
1.35
0.74
1.4
1.3
1.5
0.8
u/ml
0.32
12
76
13
85
1.59
0.72
4.8
3.1
54.6
67.8
ml/min/173m2
—
7
39
26
198
1.39
0.71
1.5
1.3
25.2
25.8
iu/ml
—
10
62
98
1045
0.74
0.68
4.8
4.1
1.4
1.5
mmol/l
0.91
90
971
12
81
1.53
0.59
2.1
1.8
—
—
—
0
0
11
73
1.55
0.58
11.7
9.0
26.0
24.8
mmol/l
0.75
11
73
106
1005
1.31
0.50
5.4
4.1
5.7
5.8
mmol/l
0.38
101
931
25
201
1.30
0.50
1.7
1.3
1.1
8.2
u/ml
—
10
79
10
69
1.49
0.46
1.2
1.0
—
—
—
0
0
11
78
1.45
0.45
1.5
1.2
—
—
—
0
0
0
16
0.00
0.41
0.0
1.0
—
—
—
0
0
0
17
0.00
0.41
0.0
1.1
—
—
—
0
0
0
17
0.00
0.41
0.0
1.1
—
—
—
0
0
102
1050
0.86
0.22
4.7
4.2
4.6
4.7
mmol/l
0.31
96
985
0
10
0.00
0.21
0.0
1.0
—
—
—
0
0
0
10
0.00
0.21
0.0
1.0
—
—
—
0
0
0
12
0.00
0.21
0.0
1.2
—
—
—
0
0
25
222
1.16
0.21
1.6
1.4
—
—
—
0
0
9
114
0.77
0.21
1.8
1.6
—
—
—
0
0
5
68
0.72
0.17
2.8
2.2
18.7
5.6
ug/l
—
5
59
17
193
0.86
0.17
3.5
4.0
23.1
21.5
%
—
7
90
6
77
0.77
0.16
1.7
1.5
—
—
—
0
0
104
1061
0.90
0.13
5.2
4.5
2.7
2.8
mmol/l
0.21
93
986
98
1002
0.91
0.13
4.3
3.7
1.5
1.2
mmol/l
2.35
87
924
26
280
0.91
0.12
7.4
3.7
0.0
0.0
estimate
0.00
12
99
15
164
0.90
0.08
2.3
2.3
—
—
—
0
0
14
145
0.96
0.00
2.1
2.2
—
—
—
0
0
0
6
0.00
0.00
0.0
1.2
—
—
—
0
0
0
6
0.00
0.00
0.0
1.8
—
—
—
0
0
0
5
0.00
0.00
0.0
2.4
—
—
—
0
0
0
6
0.00
0.00
0.0
1.2
—
13.5
—
0
6
0
5
0.00
0.00
0.0
1.2
—
18.0
—
0
5
5
50
1.00
0.00
1.4
1.5
—
—
—
0
0
0
8
0.00
0.00
0.0
2.0
—
—
—
0
0
0
7
0.00
0.00
0.0
1.0
—
—
—
0
0
0
5
0.00
0.00
0.0
1.8
—
—
—
0
0
(3016894) Varicella zoster virus DNA [Presence] in Cerebral spinal fluid by NAA with probe detection
0
5
0.00
0.00
0.0
1.2
—
—
—
0
0
Mortality – FinRegistry
↥Association
Association between endpoint D3_IMMUDEFNAS and mortality.
Females
| Parameter | HR [95% CI] | p-value |
|---|---|---|
| D3_IMMUDEFNAS | 3.678 [2.42, 5.58] | < 0.001 |
| Birth year | 0.989 [0.98, 1.0] | 0.021 |
During the follow-up period (1.1.1998 — 31.12.2019), 88 out of 387 females with D3_IMMUDEFNAS died.
Males
| Parameter | HR [95% CI] | p-value |
|---|---|---|
| D3_IMMUDEFNAS | 2.774 [1.85, 4.16] | < 0.001 |
| Birth year | 0.986 [0.97, 1.0] | 0.025 |
During the follow-up period (1.1.1998 — 31.12.2019), 69 out of 289 males with D3_IMMUDEFNAS died.
Mortality risk
Mortality risk for people of age
years, who have D3_IMMUDEFNAS.| N-year risk | Females | Males |
|---|---|---|
| 1 | 0.294% | 0.457% |
| 5 | 1.697% | 3.098% |
| 10 | 4.35% | 8.007% |
| 15 | 8.053% | 14.237% |
| 20 | 14.103% | 23.103% |
Relationships between endpoints
↥Index endpoint: D3_IMMUDEFNAS – Other or unspecified immunodeficiency
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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