No definition available.
Immunodeficiency associated with other major defects
D3_IMMUDEFWITHMAJORDEF
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. |
- |
4. Check minimum number of eventsNone |
- |
5. Include endpoints |
94 |
6. Filter based on genotype QC (FinnGen only) |
94 |
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 | 94 | 51 | 43 |
| Unadjusted period prevalence (%) | 0.02 | 0.02 | 0.02 |
| Median age at first event (years) | 47.76 | 46.53 | 49.22 |
-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
- 84
- Matched controls
- 839
Code
Vocabulary
Description
Odds Ratio
-log10(p)
N matched cases
N matched controls
D82.1
ICD-10 Finland
Di George syndrome
+∞
19.5
18
*
D82.4
ICD-10 Finland
Hyperimmunoglobulin E [IgE] syndrome
+∞
19.5
18
*
D82.2
ICD-10 Finland
Immunodeficiency with short-limbed stature
+∞
18.4
17
*
D82.8
ICD-10 Finland
Immunodeficiency associated with other specified major defects
+∞
16.1
15
*
GD1AA
NOMESCO Finland
Thorax X-ray examination
5.4
12.0
54
211
Q87.06
ICD-10 Finland
Velocardiofacial syndrome
+∞
11.7
11
*
D80.1
ICD-10 Finland
Nonfamilial hypogammaglobulinaemia
+∞
10.6
10
*
6BA02
NOMESCO Finland
NA
+∞
10.6
10
*
NK6QA
NOMESCO Finland
Measurement of bone density from tow or more locations with X-ray
10.8
10.0
19
22
D82.9
ICD-10 Finland
Immunodeficiency associated with major defect, unspecified
+∞
9.5
9
*
JN3AE
NOMESCO Finland
Abdominal ultrasound examination
5.9
9.3
28
65
H02AB06
ATC
prednisolone; systemic
4.2
8.9
51
227
DM1QA
NOMESCO Finland
Paranasal sinuses X-ray examination in one projection
9.6
8.9
18
23
J01MA12
ATC
levofloxacin; systemic
5.4
8.6
28
71
L04AA01
ATC
[U] ciclosporin; systemic
25.0
8.3
11
5
TQX10
NOMESCO Finland
Biopsy of skin and subcutaneous tissue
8.6
8.0
17
24
J45.9
ICD-10 Finland
Asthma, unspecified
4.9
8.0
28
77
ZX120
NOMESCO Finland
Intravenous
6.4
7.6
20
39
XW000
NOMESCO Finland
Bone marrow biopsy
17.8
7.5
11
7
D82.0
ICD-10 Finland
Wiskott-Aldrich syndrome
+∞
7.4
7
*
120
Kela drug reimbursment
Hypogammaglobulinaemia
+∞
7.4
7
*
DM1AA
NOMESCO Finland
Paranasal sinuses X-ray examination without contrast
33.2
7.3
9
*
WX408
NOMESCO Finland
General anesthesy, balanced
3.9
7.2
36
135
UJD10
NOMESCO Finland
Esophagoscopy, gastroscopy and duodenoscopy
3.9
7.1
35
129
203
Kela drug reimbursment
Chronic asthma and similar chronic obstructive pulmonary diseases
4.3
7.0
28
87
TPH04
NOMESCO Finland
Cathetrisation of vein
4.1
6.9
30
100
R50.9
ICD-10 Finland
Fever, unspecified
4.6
6.8
25
71
H04.10
ICD-10 Finland
Dry eye syndrome
6.4
6.6
17
32
GD1DD
NOMESCO Finland
High resolution CT examination of lungs
8.2
6.5
14
20
Z31.5
ICD-10 Finland
Genetic counselling
7.8
6.4
14
21
A07AA02
ATC
nystatin; oral
7.8
6.4
14
21
J06BA01
ATC
immunoglobulins, normal human, for extravascular adm.; systemic
+∞
6.3
6
*
J01EE01
ATC
sulfamethoxazole and trimethoprim; systemic
9.8
6.3
12
14
GD1UA
NOMESCO Finland
Thorax X-ray examination outside radiological department
4.4
6.2
23
66
J01FF01
ATC
clindamycin; systemic
3.5
6.1
33
131
R03AC02
ATC
salbutamol; inhalant
3.2
6.1
57
333
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
25
15
22.34
30.91
5.0
1.7
—
—
—
0
0
22
13
21.79
27.21
4.6
1.7
24.6
26.3
%
0.18
22
13
38
127
4.34
10.52
9.2
8.3
1.2
1.2
mmol/l
0.08
38
122
13
5
29.79
10.12
4.7
1.4
730.8
1153.6
u/ml
—
13
5
14
22
7.30
8.80
3.0
2.1
—
—
—
0
0
63
340
3.59
8.02
14.6
10.1
1.2
1.2
mmol/l
0.41
58
309
63
366
3.19
6.61
16.4
9.2
1.2
1.2
mmol/l
0.09
56
322
10
16
6.88
6.09
3.7
1.4
—
—
—
0
0
30
120
3.20
5.96
3.9
1.7
—
—
—
0
0
12
25
5.36
5.67
3.3
1.5
—
—
—
0
0
24
88
3.32
5.45
3.6
1.5
—
—
—
0
0
12
26
5.14
5.43
3.3
1.5
—
—
—
0
0
14
35
4.53
5.39
2.4
5.0
26.6
24.3
mmol/l
2.39
14
35
23
88
3.14
4.84
3.8
1.6
—
—
—
0
0
31
142
2.77
4.73
2.0
1.4
21.9
21.2
nmol/l
0.08
31
119
47
272
2.46
4.38
4.9
3.6
—
—
—
0
0
29
134
2.68
4.31
2.9
3.2
642.3
136.4
ng/l
0.95
21
102
43
241
2.45
4.28
4.9
3.7
32.5
33.6
u/l
0.10
43
232
8
10
8.61
4.15
4.4
1.4
—
—
—
0
0
15
48
3.53
4.14
20.1
14.2
127.0
128.6
g/l
0.10
15
48
20
77
3.03
4.13
7.8
8.2
2.8
1.5
mmol/l
0.54
15
57
9
14
6.98
4.09
1.3
1.5
—
—
—
0
0
14
44
3.56
3.96
4.5
2.0
145.8
180.6
ng/l
0.19
14
38
66
468
2.38
3.62
11.6
6.5
6.4
6.6
mmol/l
0.20
61
438
8
13
6.61
3.58
4.4
1.5
—
—
—
0
0
9
18
5.41
3.46
3.6
1.7
—
—
—
0
0
20
86
2.68
3.36
3.5
2.4
333.1
386.1
nmol/l
0.86
20
78
11
34
3.53
3.17
1.9
1.3
—
—
—
0
0
11
37
3.23
2.79
2.4
5.1
53.4
52.2
%
0.05
11
37
7
14
5.31
2.78
4.4
1.2
—
—
—
0
0
7
14
5.31
2.78
4.4
1.4
—
—
—
0
0
14
57
2.71
2.59
6.9
3.2
—
—
—
0
0
41
265
1.97
2.58
2.5
1.7
94.7
94.6
pmol/l
0.00
18
119
6
12
5.26
2.44
5.0
1.5
—
—
—
0
0
6
12
5.26
2.44
1.5
1.0
—
—
—
0
0
5
8
6.52
2.40
4.2
2.6
—
—
—
0
0
13
53
2.69
2.40
1.8
4.1
45.2
69.6
ml/min/173m2
—
8
29
32
195
1.97
2.34
2.7
4.0
1653.8
1012.2
ng/l
0.50
26
163
7
18
4.11
2.30
4.4
1.5
—
—
—
0
0
5
9
5.79
2.24
1.0
1.0
—
—
—
0
0
8
25
3.40
2.15
8.9
2.0
—
—
—
0
0
6
15
4.19
2.07
1.0
1.7
—
—
—
0
0
13
59
2.40
1.94
2.5
1.6
—
—
—
0
0
8
28
3.03
1.91
1.5
2.5
—
—
—
0
0
5
12
4.33
1.84
2.8
1.6
—
—
—
0
0
16
84
2.09
1.72
8.1
9.1
0.8
1.4
mmol/l
0.19
11
67
6
19
3.30
1.69
2.3
2.9
20.2
23.6
nmol/l
—
6
19
49
371
1.67
1.64
5.9
3.8
0.0
0.0
estimate
—
8
58
23
142
1.82
1.57
3.3
3.3
2.8
2.4
e6/l
0.11
16
84
28
184
1.74
1.56
3.4
2.4
—
—
—
0
0
86
776
2.27
1.55
37.7
12.7
26.1
22.0
mg/l
0.55
79
589
7
27
2.72
1.55
1.3
1.7
—
—
—
0
0
5
15
3.46
1.54
1.0
1.7
—
—
—
0
0
6
21
2.98
1.53
1.7
2.9
0.0
0.0
g/l
—
6
21
48
369
1.61
1.46
8.6
5.4
0.0
0.0
estimate
—
8
60
6
22
2.84
1.46
2.0
1.5
—
—
—
0
0
48
371
1.60
1.42
6.1
3.9
0.0
0.0
estimate
—
8
55
10
47
2.26
1.39
28.5
14.8
1.1
1.4
%
—
10
47
22
140
1.75
1.36
3.5
3.2
0.7
0.6
e6/l
0.14
15
82
36
262
1.61
1.35
4.7
3.5
16.3
35.6
ng/l
0.67
29
177
5
18
2.87
1.30
1.2
1.6
—
—
—
0
0
25
168
1.66
1.27
1.3
1.8
—
—
—
0
0
6
25
2.49
1.26
1.8
1.3
—
0.0
—
0
7
13
72
1.93
1.22
6.3
8.1
—
—
—
0
0
0
33
0.00
1.19
0.0
2.5
—
—
—
0
0
8
39
2.15
1.18
1.5
1.5
—
—
—
0
0
5
21
2.46
1.10
2.2
1.4
—
—
—
0
0
44
352
1.47
1.02
5.6
3.8
—
—
—
0
0
7
37
1.96
0.96
6.0
7.8
160.4
183.6
%
—
7
37
6
27
2.30
0.95
2.5
1.9
—
—
—
0
0
6
31
2.00
0.86
1.7
1.6
—
—
—
0
0
0
26
0.00
0.79
0.0
1.4
—
226.9
—
0
11
5
24
2.14
0.76
1.4
1.2
—
—
—
0
0
5
24
2.14
0.76
1.0
1.2
—
—
—
0
0
85
804
1.60
0.67
37.0
14.2
82.2
71.5
umol/l
0.96
85
804
8
51
1.62
0.62
3.4
1.5
—
—
—
0
0
0
22
0.00
0.60
0.0
1.0
—
22.2
—
0
5
24
201
1.26
0.37
1.7
1.5
0.5
3.4
u/ml
—
6
46
66
694
0.84
0.28
4.8
4.2
4.3
4.6
mmol/l
1.64
59
644
57
535
1.17
0.25
3.7
3.5
—
—
—
0
0
5
42
1.20
0.22
1.2
1.8
—
—
—
0
0
64
669
0.86
0.21
4.5
3.7
1.4
1.2
mmol/l
1.27
56
613
0
10
0.00
0.21
0.0
2.3
—
—
—
0
0
0
12
0.00
0.21
0.0
2.3
—
21.1
—
0
12
0
12
0.00
0.21
0.0
1.1
—
6.3
—
0
5
0
14
0.00
0.20
0.0
1.2
—
—
—
0
0
32
292
1.15
0.20
7.0
3.8
—
—
—
0
0
66
686
0.87
0.19
4.7
4.1
1.4
1.5
mmol/l
0.54
59
628
7
61
1.16
0.18
1.4
1.6
—
—
—
0
0
21
188
1.15
0.16
3.6
4.3
1.7
1.9
ug/l
0.29
21
166
68
703
0.88
0.16
5.1
4.6
2.4
2.7
mmol/l
2.45
62
650
12
106
1.15
0.10
1.8
1.3
—
—
—
0
0
5
43
1.17
0.10
2.4
2.9
0.0
0.1
e6/l
—
5
43
5
44
1.14
0.10
6.0
2.9
4.7
4.9
pmol/l
—
5
39
64
657
0.92
0.09
7.3
5.2
39.3
39.6
mmol/mol
0.10
58
615
67
655
1.08
0.08
29.5
11.1
83.0
85.0
ml/min/173m2
0.21
58
504
8
92
0.86
0.07
3.1
2.3
—
—
—
0
0
9
104
0.85
0.06
3.2
2.4
—
—
—
0
0
15
160
0.93
0.04
4.5
3.9
28.3
23.0
%
—
9
72
11
109
1.01
0.00
1.8
1.2
4.5
7.8
u/ml
—
5
46
0
6
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
3.2
—
—
—
0
0
0
6
0.00
0.00
0.0
1.3
—
—
—
0
0
0
5
0.00
0.00
0.0
1.0
—
—
—
0
0
20
200
1.00
0.00
8.5
3.8
0.0
0.0
estimate
—
9
59
0
9
0.00
0.00
0.0
1.1
—
—
—
0
0
5
53
0.94
0.00
1.8
1.9
—
—
—
0
0
0
9
0.00
0.00
0.0
1.3
—
—
—
0
0
0
5
0.00
0.00
0.0
1.2
—
—
—
0
0
0
8
0.00
0.00
0.0
1.0
—
—
—
0
0
0
7
0.00
0.00
0.0
1.6
—
—
—
0
0
0
6
0.00
0.00
0.0
1.5
—
—
—
0
0
0
7
0.00
0.00
0.0
2.7
—
13.3
—
0
7
0
5
0.00
0.00
0.0
1.0
—
0.3
—
0
5
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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