No definition available.
Immunodeficiency associated with other major defects
D3_IMMUDEFWITHMAJORDEF
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. |
- |
4. Check minimum number of eventsNone |
- |
5. Include endpoints |
107 |
6. Filter based on genotype QC (FinnGen only) |
91 |
Control definitions (FinnGen only)
- Control exclude
- D3_IMMUNEMECHANISM
Extra metadata
- Level in the ICD hierarchy
- 3
- First used in FinnGen datafreeze
- DF2
- Parent code in ICD-10
- D80-D89
- Name in latin
- Deficientia immunalis cum aliis defectibus majoribus
Similar endpoints
↥List of similar endpoints to
Immunodeficiency associated with other major defects
based on the number of shared cases.
Similar with more cases:
- 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:
Case counts by codes
↥
Summary Statistics
↥-FinRegistry-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | |||
| Whole population | 728 | 368 | 358 |
| Only index persons | 577 | 295 | 282 |
| 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 | 40.88 | 42.53 | 39.01 |
| Only index persons | 41.82 | 43.29 | 40.28 |
-FinnGen-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | 91 | 50 | 41 |
| Unadjusted period prevalence (%) | 0.02 | 0.02 | 0.02 |
| Median age at first event (years) | 48.15 | 46.86 | 49.73 |
-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
-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
- 97
- Matched controls
- 970
Code
Vocabulary
Description
Odds Ratio
-log10(p)
N matched cases
N matched controls
D82.1
ICD-10 Finland
Di George syndrome
+∞
21.7
20
*
D82.4
ICD-10 Finland
Hyperimmunoglobulin E [IgE] syndrome
+∞
21.7
20
*
D82.2
ICD-10 Finland
Immunodeficiency with short-limbed stature
+∞
18.3
17
*
D82.8
ICD-10 Finland
Immunodeficiency associated with other specified major defects
+∞
16.1
15
*
NK6QA
NOMESCO Finland
Measurement of bone density from two or more locations with X-ray
8.8
16.0
23
33
GD1AA
NOMESCO Finland
Thorax X-ray examination
5.6
14.5
69
298
TPH04
NOMESCO Finland
Cathetrisation of vein
5.0
12.9
39
115
JN3AE
NOMESCO Finland
Abdominal ultrasound examination
5.2
12.8
35
95
TQX10
NOMESCO Finland
Biopsy of skin and subcutaneous tissue
7.4
12.7
21
35
D80.1
ICD-10 Finland
Nonfamilial hypogammaglobulinaemia
+∞
11.7
11
*
D82.9
ICD-10 Finland
Immunodeficiency associated with major defect, unspecified
+∞
11.7
11
*
Q87.06
ICD-10 Finland
Velocardiofacial syndrome
+∞
11.7
11
*
H02AB07
ATC
prednisone; oral
5.7
11.0
24
53
D82.0
ICD-10 Finland
Wiskott-Aldrich syndrome
+∞
10.6
10
*
GD1DD
NOMESCO Finland
High resolution CT examination of lungs
12.7
10.3
18
17
UJD10
NOMESCO Finland
Esophagoscopy, gastroscopy and duodenoscopy
4.0
10.1
44
167
DM1QA
NOMESCO Finland
Paranasal sinuses X-ray examination in one projection
11.0
10.1
19
21
J47
ICD-10 Finland
Bronchiectasis
24.7
9.6
13
6
6BA02, ,
NOMESCO Finland
110.3
9.6
10
*
GD1PA
NOMESCO Finland
X-ray examination of the lungs in one projection
4.7
9.5
27
74
120
Kela drug reimbursment
Hypogammaglobulinaemia
+∞
9.5
9
*
J01MA12
ATC
levofloxacin; systemic
4.3
9.3
30
91
Z3229
NOMESCO Finland
Other healthcare associate professional
5.5
9.1
20
44
GD1UA
NOMESCO Finland
Thorax X-ray examination outside radiological department
4.1
8.9
31
99
ZXD05
NOMESCO Finland
Urgent procedure
3.7
8.9
43
173
H02AB06
ATC
prednisolone; systemic
3.6
8.7
60
302
WX002
NOMESCO Finland
Sedation and analgesia
4.1
8.6
30
96
J06BA01
ATC
immunoglobulins, normal human, for extravascular adm.; systemic
+∞
8.4
8
*
A49.9
ICD-10 Finland
Bacterial infection, unspecified
4.9
8.3
21
52
L04AA01
ATC
[U] ciclosporin
36.7
8.2
10
*
203
Kela drug reimbursment
Chronic asthma and similar chronic obstructive pulmonary diseases
3.8
8.2
33
116
Z31.5
ICD-10 Finland
Genetic counselling
7.6
8.2
19
30
WX408
NOMESCO Finland
General anesthesy, balanced
3.6
8.2
40
160
J45.9
ICD-10 Finland
Asthma, unspecified
3.8
8.1
32
111
ZXE20
NOMESCO Finland
More than three and less than five hours
4.0
7.6
26
81
J45.0
ICD-10 Finland
Predominantly allergic asthma
4.5
7.6
21
56
J01FF01
ATC
clindamycin; systemic
3.4
7.4
38
156
D82.3
ICD-10 Finland
Immunodeficiency following hereditary defective response to Epstein-Barr virus
+∞
7.4
7
*
KH1AE
NOMESCO Finland
Urinary tract ultrasound examination
6.9
7.4
18
31
Z01.8
ICD-10 Finland
Other specified special examinations
3.6
7.4
30
106
R03AK06
ATC
salmeterol and fluticasone; inhalant
4.0
7.3
24
73
A46
ICD-10 Finland
Erysipelas
4.3
7.2
21
58
GD1AD
NOMESCO Finland
Thorax CT examination
7.8
7.2
16
24
XF400
NOMESCO Finland
ECG with 12 standard connections
3.6
6.9
28
98
GD1ED
NOMESCO Finland
Extensive high resolution CT examination of lungs
18.3
6.9
10
6
ZX120
NOMESCO Finland
Intravenous
4.2
6.9
21
60
TNE25
NOMESCO Finland
Drill biopsy of bone marrow, pelvis
43.2
6.9
8
*
J45.8
ICD-10 Finland
Mixed asthma
13.6
6.8
11
9
JN3AD
NOMESCO Finland
Abdominal CT examination
4.4
6.7
19
51
XW000
NOMESCO Finland
Bone marrow biopsy
8.4
6.7
14
19
ZXD10
NOMESCO Finland
Scheduled procedure
3.0
6.6
51
262
R50.9
ICD-10 Finland
Fever, unspecified
3.4
6.6
29
107
E000006, ,
ATC
6.4
6.3
16
29
D80.3
ICD-10 Finland
Selective deficiency of immunoglobulin G [IgG] subclasses
+∞
6.3
6
*
D86.0
ICD-10 Finland
Sarcoidosis of lung
+∞
6.3
6
*
D07BB04
ATC
hydrocortisone butyrate and antiseptics; topical
3.8
6.2
21
65
Z3226
NOMESCO Finland
Physiotherapist
3.2
6.0
30
119
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
27
17
21.47
18.37
5.2
1.8
15.59
7.53
%
3.21
27
17
27
18
20.26
18.01
5.3
1.8
—
—
—
0
0
24
16
19.47
15.92
4.7
1.8
24.21
27.06
%
0.39
24
16
17
5
40.64
14.04
4.7
1.4
764.35
1153.60
u/ml
—
17
5
41
139
4.38
11.17
11.4
8.7
1.17
1.17
mmol/l
0.02
41
131
39
141
3.95
9.51
4.1
1.7
—
—
—
0
0
33
109
4.07
9.09
3.7
1.6
—
—
—
0
0
31
104
3.91
8.28
3.9
1.6
—
—
—
0
0
70
422
3.37
6.92
21.0
9.4
1.20
1.22
mmol/l
0.75
61
376
11
10
12.21
6.48
4.4
1.5
—
—
—
0
0
15
24
7.18
6.47
3.3
2.0
—
—
—
0
0
16
39
4.72
6.37
4.0
4.7
26.17
24.24
mmol/l
1.82
16
39
12
16
8.38
5.83
4.1
1.5
—
—
—
0
0
14
24
6.63
5.79
3.7
1.4
—
—
—
0
0
15
30
5.71
5.53
3.7
1.5
—
—
—
0
0
12
18
7.44
5.45
3.8
1.4
—
—
—
0
0
14
28
5.66
5.18
4.0
1.5
—
—
—
0
0
10
13
8.43
4.99
6.3
1.7
16.00
17.13
%
—
10
13
61
382
2.61
4.91
5.5
3.0
77.33
74.79
nmol/l
0.30
56
345
46
255
2.53
4.75
5.9
3.6
0.14
0.30
e6/l
0.96
36
177
55
333
2.51
4.68
2.5
1.9
97.29
95.93
pmol/l
0.06
23
152
10
15
7.29
4.60
2.0
1.6
—
—
—
0
0
15
45
3.76
4.54
5.3
2.1
204.40
175.72
ng/l
0.12
15
40
14
41
3.82
4.37
5.8
5.6
54.16
50.08
%
0.22
14
41
73
516
2.68
4.31
15.0
7.1
6.60
6.51
mmol/l
0.11
68
488
32
156
2.57
4.25
4.3
3.4
636.47
307.90
ng/l
0.46
24
115
21
83
2.95
4.14
8.5
8.1
2.64
1.23
mmol/l
0.64
16
63
18
66
3.12
4.02
2.7
1.6
—
—
—
0
0
10
20
5.44
3.80
4.0
1.7
—
—
—
0
0
23
101
2.67
3.72
3.9
2.7
400.87
396.84
nmol/l
0.02
23
93
64
448
2.26
3.52
6.1
4.0
0.00
0.00
estimate
-0.00
11
86
21
91
2.67
3.47
13.4
11.4
1.79
1.26
mmol/l
0.22
16
74
8
14
6.12
3.41
5.1
1.2
—
—
—
0
0
8
15
5.70
3.26
5.4
1.4
—
—
—
0
0
26
129
2.39
3.25
23.7
12.0
102.73
104.33
mmol/l
0.79
26
129
63
447
2.17
3.24
6.3
4.0
0.00
0.00
estimate
—
10
87
38
224
2.14
3.15
3.5
4.2
5115.61
1033.55
ng/l
0.72
32
188
63
450
2.14
3.14
6.2
4.1
0.00
0.00
estimate
—
10
80
6
8
7.90
3.10
1.0
1.3
—
—
—
0
0
7
12
6.19
3.08
1.7
1.0
—
—
—
0
0
12
37
3.55
3.06
1.8
1.2
—
—
—
0
0
5
5
10.44
3.01
1.0
1.0
—
—
—
0
0
5
5
10.44
3.01
1.4
1.0
—
—
—
0
0
5
5
10.44
3.01
7.6
1.0
—
—
—
0
0
5
5
10.44
3.01
7.2
1.6
—
—
—
0
0
16
65
2.75
2.97
7.9
3.1
—
—
—
0
0
14
53
2.92
2.94
26.0
14.5
0.50
0.65
%
1.29
14
53
7
13
5.71
2.92
8.0
1.5
7.64
6.13
pmol/l
—
7
13
8
18
4.74
2.86
5.4
1.5
—
—
—
0
0
14
54
2.86
2.85
25.9
14.3
1.41
1.43
%
0.01
14
54
5
6
8.69
2.78
1.4
1.0
—
—
—
0
0
5
6
8.69
2.78
1.4
1.0
—
—
—
0
0
15
61
2.73
2.78
2.0
4.0
53.44
69.42
ml/min/173m2
—
9
31
9
24
4.02
2.75
1.9
1.3
—
—
—
0
0
6
10
6.31
2.74
1.0
1.0
—
—
—
0
0
28
157
2.10
2.58
4.1
3.6
2.09
2.41
e6/l
0.10
16
85
9
26
3.71
2.55
8.2
2.0
—
—
—
0
0
28
158
2.09
2.53
4.2
3.5
0.62
0.57
e6/l
0.06
15
86
5
8
6.51
2.40
1.4
1.0
110.00
77.50
%
—
5
8
11
40
2.97
2.36
1.4
1.7
—
—
—
0
0
5
9
5.78
2.24
2.4
1.6
22.80
30.00
umol/l
—
5
9
12
49
2.65
2.20
5.1
7.2
88.92
92.45
%
0.20
12
49
6
14
4.49
2.18
3.0
1.6
—
—
—
0
0
11
43
2.75
2.16
1.9
1.6
11.94
4.63
iu/ml
—
5
14
18
91
2.20
2.12
23.7
12.2
25.12
24.14
mmol/l
1.45
18
91
5
10
5.20
2.09
4.2
2.9
—
—
—
0
0
8
27
3.13
1.98
1.9
1.3
—
0.00
—
0
7
6
16
3.92
1.96
1.0
1.7
—
—
—
0
0
42
297
1.73
1.84
5.7
3.6
38.88
32.82
ng/l
0.09
34
202
11
48
2.46
1.78
14.7
3.9
1.22
1.23
mmol/l
0.22
11
41
6
19
3.29
1.69
1.2
1.7
—
—
—
0
0
8
32
2.63
1.64
1.6
1.7
—
—
—
0
0
29
190
1.75
1.63
1.3
1.9
—
—
—
0
0
5
15
3.45
1.54
1.0
1.7
—
—
—
0
0
9
38
2.51
1.50
2.0
1.3
0.32
0.21
g/l
—
9
38
5
16
3.23
1.45
2.4
1.8
—
—
—
0
0
14
76
1.98
1.38
11.2
7.8
—
—
—
0
0
9
42
2.26
1.38
5.0
7.4
177.67
195.17
%
—
9
42
17
100
1.85
1.34
2.1
2.0
1.73
1.36
%
1.35
12
89
30
210
1.62
1.30
3.4
2.5
—
—
—
0
0
5
18
2.87
1.30
1.4
1.0
—
—
—
0
0
5
18
2.87
1.30
1.4
1.0
—
—
—
0
0
6
25
2.49
1.26
1.7
3.0
0.00
0.00
g/l
—
6
25
33
240
1.57
1.22
6.1
4.1
27.49
11.07
mg/mmol
0.75
26
155
11
58
2.01
1.17
3.1
1.6
—
—
—
0
0
7
32
2.28
1.10
1.0
1.2
—
—
—
0
0
12
67
1.90
1.10
1.9
1.3
—
—
—
0
0
5
21
2.45
1.10
1.6
1.7
—
—
—
0
0
89
828
1.91
1.03
45.8
14.3
29.51
22.97
mg/l
1.01
83
665
6
27
2.30
0.95
1.3
1.3
—
—
—
0
0
48
394
1.43
0.94
4.3
2.7
—
—
estimate
—
0
0
6
28
2.22
0.93
2.5
2.0
—
—
—
0
0
32
246
1.45
0.88
7.0
3.4
0.00
0.00
estimate
-0.00
11
68
5
23
2.24
0.77
1.8
1.8
25.40
34.22
nmol/l
—
5
23
41
340
1.36
0.72
7.0
3.8
0.00
0.01
estimate
0.49
11
69
0
23
0.00
0.59
0.0
1.1
—
22.16
—
0
5
30
245
1.33
0.56
2.0
1.6
0.62
3.71
u/ml
—
9
53
63
569
1.31
0.56
3.9
3.5
—
—
—
0
0
26
212
1.31
0.49
5.3
3.8
1.02
1.02
kg/l
0.14
15
140
8
56
1.47
0.44
1.6
2.1
—
—
—
0
0
0
15
0.00
0.41
0.0
1.2
—
—
—
0
0
77
729
1.27
0.37
36.2
13.0
82.93
85.05
ml/min/173m2
0.24
70
643
7
51
1.40
0.32
4.6
3.0
4.39
4.84
pmol/l
—
7
46
28
247
1.19
0.27
8.0
3.9
0.00
0.00
estimate
-0.00
11
79
0
10
0.00
0.21
0.0
2.3
—
0.90
—
0
10
0
10
0.00
0.21
0.0
1.1
—
—
—
0
0
0
12
0.00
0.21
0.0
1.2
—
6.34
—
0
5
0
12
0.00
0.21
0.0
2.6
—
21.14
—
0
12
0
14
0.00
0.20
0.0
1.9
—
32.76
—
0
14
70
727
0.87
0.20
8.2
5.8
39.20
38.84
mmol/mol
0.12
64
681
10
81
1.26
0.19
3.6
4.4
28.20
32.31
%
—
5
45
5
67
0.73
0.17
1.0
1.0
—
—
—
0
0
8
67
1.21
0.17
2.0
2.3
—
—
—
0
0
73
753
0.88
0.16
5.1
4.6
1.37
1.46
mmol/l
0.88
68
692
13
112
1.19
0.15
3.1
2.5
—
—
—
0
0
74
760
0.89
0.13
5.2
4.7
4.28
4.57
mmol/l
1.65
69
704
23
211
1.12
0.12
4.4
4.8
1.92
1.78
ug/l
0.16
23
185
70
719
0.91
0.12
4.6
4.0
1.39
1.21
mmol/l
1.14
64
660
75
767
0.90
0.11
5.9
5.4
2.36
2.68
mmol/l
2.30
70
710
14
126
1.13
0.09
3.1
2.5
—
—
—
0
0
90
906
0.91
0.08
67.2
24.0
39.05
40.25
%
1.69
90
897
90
906
0.91
0.08
61.9
22.5
90.18
90.03
fl
0.09
90
897
90
906
0.91
0.08
63.2
23.0
128.88
135.16
g/l
3.19
90
897
75
736
1.08
0.07
54.2
18.8
14.22
13.51
%
3.47
75
731
14
129
1.10
0.06
1.9
1.3
4.02
7.01
u/ml
—
6
52
13
120
1.10
0.05
1.8
1.4
—
—
—
0
0
30
307
0.97
0.01
1.9
2.2
1.56
1.27
mmol/l
0.66
24
253
18
176
1.03
0.00
4.9
4.3
27.17
23.34
%
0.52
11
77
0
5
0.00
-0.00
0.0
1.2
—
—
—
0
0
0
7
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.2
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.3
—
—
—
0
0
0
9
0.00
-0.00
0.0
1.3
—
—
—
0
0
0
7
0.00
-0.00
0.0
1.4
—
0.10
—
0
7
0
7
0.00
-0.00
0.0
1.0
—
0.30
—
0
7
0
7
0.00
-0.00
0.0
2.7
—
13.30
—
0
7
0
5
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.4
—
0.21
—
0
5
0
5
0.00
-0.00
0.0
3.2
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.0
—
—
—
0
0
Mortality – FinRegistry
↥Association
Association between endpoint D3_IMMUDEFWITHMAJORDEF and mortality.
Females
| Parameter | HR [95% CI] | p-value |
|---|---|---|
| D3_IMMUDEFWITHMAJORDEF | 2.935 [1.94, 4.44] | < 0.001 |
| Birth year | 0.995 [0.99, 1.0] | 0.289 |
During the follow-up period (1.1.1998 — 31.12.2019), 66 out of 294 females with D3_IMMUDEFWITHMAJORDEF died.
Males
| Parameter | HR [95% CI] | p-value |
|---|---|---|
| D3_IMMUDEFWITHMAJORDEF | 2.666 [1.66, 4.28] | < 0.001 |
| Birth year | 0.985 [0.98, 0.99] | 0.002 |
During the follow-up period (1.1.1998 — 31.12.2019), 70 out of 293 males with D3_IMMUDEFWITHMAJORDEF died.
Mortality risk
Mortality risk for people of age
years, who have D3_IMMUDEFWITHMAJORDEF.| N-year risk | Females | Males |
|---|---|---|
| 1 | 0.285% | 0.428% |
| 5 | 1.877% | 2.813% |
| 10 | 4.685% | 6.763% |
| 15 | 8.607% | 13.305% |
| 20 | 14.179% | 21.391% |
Relationships between endpoints
↥Index endpoint: D3_IMMUDEFWITHMAJORDEF – Immunodeficiency associated with other major defects
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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