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
D82.4
ICD-10 Finland
Hyperimmunoglobulin E [IgE] syndrome
+∞
19.5
18
*
D82.1
ICD-10 Finland
Di George 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
ZXD05
NOMESCO Finland
Urgent procedure
4.3
8.3
37
130
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
120
Kela drug reimbursment
Hypogammaglobulinaemia
+∞
7.4
7
*
D82.0
ICD-10 Finland
Wiskott-Aldrich syndrome
+∞
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
unit
cases
controls
-log10(p)
N cases
N controls
(21493690) Lymphocyte T-cell and B-cell and Natural killer subsets panel - Blood
25
15
22.34
30.91
5.0
1.7
—
—
—
0
0
(3007449) CD3+CD8+ (T8 suppressor) cells/100 cells in Blood
22
13
21.79
27.21
4.6
1.7
%
24.6
26.3
0.18
22
13
(3006245) CD3-CD19+ cells/100 cells in Blood
22
14
20.21
26.26
4.5
1.9
%
15.5
12.1
0.43
22
14
(42870588) Differential panel, method unspecified - Blood
61
278
4.40
11.10
19.9
8.9
—
—
—
0
0
(3013924) Clostridium tetani IgG Ab [Units/volume] in Serum
10
0
+∞
10.61
1.4
0.0
—
—
—
0
0
(3003458) Phosphate [Moles/volume] in Serum or Plasma
38
127
4.34
10.52
9.2
8.3
mmol/l
1.2
1.2
0.08
38
122
(3007847) Interleukin 2 Receptor Soluble [Units/volume] in Serum or Plasma
13
5
29.79
10.12
4.7
1.4
u/ml
730.8
1153.6
—
13
5
(3014162) Mycobacterium tuberculosis DNA [Presence] in Specimen by NAA with probe detection
14
22
7.30
8.80
3.0
2.1
—
—
—
0
0
(3021347) Calcium.ionized [Moles/volume] in Serum or Plasma
63
340
3.59
8.02
14.6
10.1
mmol/l
1.2
1.2
0.41
58
309
(3042936) Bacteria identified in Isolate by Culture
29
100
3.75
7.40
3.5
1.7
—
—
—
0
0
(3020047) Haemophilus influenzae B Ab [Mass/volume] in Serum
7
0
+∞
7.38
1.3
0.0
—
—
—
0
0
(4062490)
10
5
22.09
7.30
1.5
1.2
—
—
—
0
0
(3016431) Calcium.ionized [Moles/volume] adjusted to pH 7.4 in Serum or Plasma
63
366
3.19
6.61
16.4
9.2
mmol/l
1.2
1.2
0.09
56
322
(3007164) IgA [Mass/volume] in Serum or Plasma
44
210
3.06
6.54
3.6
1.5
g/l
2.0
2.1
0.16
35
120
(3002482) Mycoplasma pneumoniae DNA [Presence] in Specimen by NAA with probe detection
10
16
6.88
6.09
3.7
1.4
—
—
—
0
0
(3044938) Influenza virus A RNA [Presence] in Specimen by NAA with probe detection
30
120
3.20
5.96
3.9
1.7
—
—
—
0
0
(3042194) Human metapneumovirus RNA [Presence] in Specimen by NAA with probe detection
12
25
5.36
5.67
3.3
1.5
—
—
—
0
0
(3043924) Respiratory syncytial virus RNA [Identifier] in Specimen by NAA with probe detection
24
88
3.32
5.45
3.6
1.5
—
—
—
0
0
(3040853) Adenovirus DNA [Identifier] in Specimen by NAA with probe detection
12
26
5.14
5.43
3.3
1.5
—
—
—
0
0
(3027273) Bicarbonate [Moles/volume] in Venous blood
14
35
4.53
5.39
2.4
5.0
mmol/l
26.6
24.3
2.39
14
35
(3000494) Fungus identified in Specimen by Culture
23
84
3.30
5.24
2.5
1.4
—
—
—
0
0
(3023368) Bacteria identified in Blood by Culture
39
194
2.73
5.14
12.4
3.8
—
—
—
0
0
(3023520) Reticulocytes [#/volume] in Blood
20
68
3.47
5.08
6.3
4.1
e9/l
90.4
70.1
0.53
13
51
(40758558) Short blood count panel - Blood
44
237
2.61
4.90
15.3
7.6
—
—
—
0
0
(3038288) Influenza virus B RNA [Presence] in Specimen by NAA with probe detection
23
88
3.14
4.84
3.8
1.6
—
—
—
0
0
(3021960) Folate [Moles/volume] in Serum or Plasma
31
142
2.77
4.73
2.0
1.4
nmol/l
21.9
21.2
0.08
31
119
(4035726)
18
60
3.47
4.70
1.5
1.3
—
—
—
0
0
(3029287) Urinalysis microscopic panel [#/volume] - Urine by Automated count
47
272
2.46
4.38
4.9
3.6
—
—
—
0
0
(3021337) Troponin I.cardiac [Mass/volume] in Serum or Plasma
29
134
2.68
4.31
2.9
3.2
ng/l
642.3
136.4
0.95
21
102
(3013721) Aspartate aminotransferase [Enzymatic activity/volume] in Serum or Plasma
43
241
2.45
4.28
4.9
3.7
u/l
32.5
33.6
0.10
43
232
(3018418) pH of Serum or Plasma
37
194
2.50
4.25
8.8
4.4
ph
7.4
7.4
—
7
28
(3007853) Bacteria identified in Skin by Aerobe culture
22
89
2.92
4.17
4.0
1.6
—
—
—
0
0
(3020565) Legionella pneumophila DNA [Presence] in Specimen by NAA with probe detection
8
10
8.61
4.15
4.4
1.4
—
—
—
0
0
(3012544) pH of Venous blood
25
109
2.76
4.14
15.4
11.0
—
—
—
0
0
(3004119) Hemoglobin [Mass/volume] in Venous blood
15
48
3.53
4.14
20.1
14.2
g/l
127.0
128.6
0.10
15
48
(43055554) Base excess.100% oxygenated [Moles/volume] standard in Capillary blood by calculation
20
77
3.03
4.13
7.8
8.2
mmol/l
2.8
1.5
0.54
15
57
(3005702) Mycobacterium sp identified in Specimen by Organism specific culture
9
14
6.98
4.09
1.3
1.5
—
—
—
0
0
(3011960) Natriuretic peptide B [Mass/volume] in Serum or Plasma
14
44
3.56
3.96
4.5
2.0
ng/l
145.8
180.6
0.19
14
38
(3021879) Hepatitis B virus core Ab [Presence] in Serum
15
52
3.24
3.66
1.5
1.4
—
—
—
0
0
(3023419) Bacteria identified in Sputum by Culture
7
9
8.29
3.62
10.7
1.8
—
—
—
0
0
(3013826) Glucose [Moles/volume] in Serum or Plasma
66
468
2.38
3.62
11.6
6.5
mmol/l
6.4
6.6
0.20
61
438
(3012477) Bordetella pertussis DNA [Presence] in Specimen by NAA with probe detection
8
13
6.61
3.58
4.4
1.5
—
—
—
0
0
(1616796) Gas panel - Central venous blood
6
6
10.56
3.55
11.5
1.3
—
—
—
0
0
(3000492) Spirometry study
17
65
2.97
3.53
2.7
1.4
—
—
—
0
0
(36305247) Microscopic observation [Identifier] in Isolate by Gram stain
9
18
5.41
3.46
3.6
1.7
—
—
—
0
0
(36304419) Bacteria [Presence] in Urine
38
218
2.25
3.44
5.4
3.3
—
—
—
0
0
(3036481) Cortisol [Moles/volume] in Serum or Plasma
20
86
2.68
3.36
3.5
2.4
nmol/l
333.1
386.1
0.86
20
78
(3017143) Hepatitis C virus Ab [Presence] in Serum
21
93
2.62
3.33
1.6
1.4
—
—
—
0
0
(586526) SARS-CoV-2 (COVID-19) RNA [Presence] in Nasopharynx by NAA with probe detection
11
34
3.53
3.17
1.9
1.3
—
—
—
0
0
(3019284) Hepatitis B virus surface Ag [Presence] in Serum
26
131
2.36
3.15
1.8
1.6
—
—
—
0
0
(3002179) Metamyelocytes/100 leukocytes in Blood
14
54
2.87
2.85
9.6
6.6
%
0.4
0.4
—
5
12
(3004588) Protein electrophoresis panel - Serum or Plasma
11
37
3.23
2.79
1.4
3.2
—
—
—
0
0
(3004529) Oxygen [Partial pressure] adjusted to patient's actual temperature in Venous blood
11
37
3.23
2.79
2.4
5.1
%
53.4
52.2
0.05
11
37
(3030692) Respiratory virus DNA+RNA [Identifier] in Specimen by NAA with probe detection
7
14
5.31
2.78
4.4
1.2
—
—
—
0
0
(3031478) Chlamydophila pneumoniae DNA [Presence] in Specimen by NAA with probe detection
7
14
5.31
2.78
4.4
1.4
—
—
—
0
0
(3019420) Tryptase [Mass/volume] in Serum or Plasma
5
6
8.71
2.78
10.6
1.2
ug/l
78.2
6.2
—
5
6
(3037467) Urinalysis macro (dipstick) panel - Urine
68
516
2.15
2.78
7.2
4.1
—
—
—
0
0
(3052851) Hemolysis interference index of Serum or Plasma
9
24
4.03
2.75
1.3
3.3
—
—
—
0
0
(3019902) Methicillin resistant Staphylococcus aureus [Presence] in Specimen by Organism specific culture
14
57
2.71
2.59
6.9
3.2
—
—
—
0
0
(3010566) Parathyrin.intact [Moles/volume] in Serum or Plasma
6
11
5.74
2.58
7.2
1.5
—
—
—
0
0
(3038177) Helicobacter pylori Ab [Presence] in Serum
5
7
7.46
2.58
1.2
1.1
—
—
—
0
0
(3051651) Icteric interference index of Serum or Plasma
5
7
7.46
2.58
1.2
3.6
—
—
—
0
0
(43054903) Holo-transcobalamin II [Moles/volume] in Serum
41
265
1.97
2.58
2.5
1.7
pmol/l
94.7
94.6
0.00
18
119
(3018095) Leukocytes [#/volume] in Urine
43
284
1.95
2.53
6.5
4.3
e6/l
31.9
35.6
0.07
35
190
(3021901) Oxygen saturation in Capillary blood
7
16
4.63
2.52
6.7
1.6
—
—
—
0
0
(3038515) Glucose [Moles/volume] in Venous blood
7
16
4.63
2.52
1.7
3.3
mmol/l
7.2
8.4
—
7
16
(3044640) Blood type and Crossmatch panel - Blood
38
242
1.96
2.47
3.1
2.4
—
—
—
0
0
(40760888) Immunoglobulin light chains.free panel - Serum
6
12
5.26
2.44
1.0
4.7
—
—
—
0
0
(3042596) Human coronavirus RNA [Presence] in Specimen by NAA with probe detection
6
12
5.26
2.44
5.0
1.5
—
—
—
0
0
(3012220) Varicella zoster virus IgM Ab [Presence] in Serum by Immunoassay
6
12
5.26
2.44
1.5
1.0
—
—
—
0
0
(3002582) Erythrocytes [#/volume] in Urine
39
252
1.94
2.42
5.5
3.5
e6/l
11.5
13.2
0.25
34
187
(3027544) Mycobacterium sp identified in Sputum by Organism specific culture
5
8
6.52
2.40
4.2
2.6
—
—
—
0
0
(46236952) Glomerular filtration rate/1.73 sq M.predicted [Volume Rate/Area] in Serum, Plasma or Blood by Creatinine-based formula (MDRD)
13
53
2.69
2.40
1.8
4.1
ml/min/173m2
45.2
69.6
—
8
29
(3029187) Natriuretic peptide.B prohormone N-Terminal [Mass/volume] in Serum or Plasma
32
195
1.97
2.34
2.7
4.0
ng/l
1653.8
1012.2
0.50
26
163
(3017895) Helicobacter pylori Ab [Units/volume] in Serum
8
23
3.70
2.33
1.9
1.5
—
—
—
0
0
(40765161) Human bocavirus DNA [Presence] in Specimen by NAA with probe detection
7
18
4.11
2.30
4.4
1.5
—
—
—
0
0
(3000991) Gas panel - Venous blood
20
103
2.20
2.26
8.1
10.8
—
—
—
0
0
(3032080) INR in Blood by Coagulation assay
41
275
1.87
2.24
11.3
6.2
inr
1.2
1.2
0.18
13
88
(3028369) Herpes simplex virus 1+2 DNA [Presence] in Specimen by NAA with probe detection
5
9
5.79
2.24
1.0
1.0
—
—
—
0
0
(3042111) Morphology [Interpretation] in Bone marrow Narrative
6
14
4.50
2.18
1.3
2.9
—
—
—
0
0
(3014148) Varicella zoster virus Ab [Titer] in Serum
6
14
4.50
2.18
1.5
1.0
—
—
—
0
0
(3024403) Complement+Immunoglobulin [Units/volume] in Red Blood Cells
8
25
3.40
2.15
8.9
2.0
—
—
—
0
0
(40768797) Stomach Pathology biopsy report
18
91
2.21
2.13
1.2
1.3
—
—
—
0
0
(3051611) Lipemic interference index of Serum or Plasma
5
10
5.21
2.09
1.2
3.7
—
—
—
0
0
(3025159) Blasts/100 leukocytes in Blood
13
57
2.49
2.08
10.5
6.7
%
0.0
0.5
—
5
17
(3016881) Enterovirus RNA [Presence] in Specimen by NAA with probe detection
6
15
4.19
2.07
1.0
1.7
—
—
—
0
0
(3022145) Colonoscopy Study observation
16
78
2.27
2.05
1.1
1.3
—
—
—
0
0
(3017181) Myelocytes/100 leukocytes in Blood
14
65
2.36
2.00
10.1
6.2
%
0.8
0.8
—
5
24
(44806118)
6
16
3.93
1.97
1.7
1.6
—
—
—
0
0
(44790048)
6
16
3.93
1.97
1.7
1.6
—
—
—
0
0
(44790047)
6
16
3.93
1.97
1.7
1.6
—
—
—
0
0
(44790049)
6
16
3.93
1.97
1.7
1.6
—
—
—
0
0
(3021440) Promyelocytes/100 leukocytes in Blood
13
59
2.40
1.94
10.5
6.6
%
0.0
0.2
—
5
20
(3051552) Clostridioides difficile toxin genes [Presence] in Stool by NAA with probe detection
13
59
2.40
1.94
2.5
1.6
—
—
—
0
0
(3020891) Body temperature
8
28
3.03
1.91
1.6
7.9
—
—
—
0
0
(3043723) Beta 1 globulin [Mass/volume] in Serum or Plasma by Electrophoresis
8
28
3.03
1.91
1.5
2.5
—
—
—
0
0
(3037756) Immunofixation for Serum or Plasma
5
12
4.33
1.84
1.2
1.3
—
—
—
0
0
(40769539) Bacteria identified based on 16S rRNA gene [Identifier] in Specimen by Sequencing
5
12
4.33
1.84
2.8
1.6
—
—
—
0
0
(3003396) Base excess in Arterial blood by calculation
16
84
2.09
1.72
8.1
9.1
mmol/l
0.8
1.4
0.19
11
67
(3014326) Insulin-like growth factor-I [Moles/volume] in Serum or Plasma
6
19
3.30
1.69
2.3
2.9
nmol/l
20.2
23.6
—
6
19
(3020682) Albumin/Creatinine [Ratio] in Urine
30
197
1.77
1.69
5.3
3.9
mg/mmol
27.7
8.8
0.80
23
123
(3035350) Ketones [Presence] in Urine by Test strip
49
371
1.67
1.64
5.9
3.8
estimate
0.0
0.0
—
8
58
(3012516) Albumin [Mass/volume] in Urine
28
182
1.77
1.62
4.1
3.2
mg/l
104.7
66.3
0.34
21
117
(3025941) Bacteria identified in Stool by Culture
10
44
2.42
1.59
1.7
1.2
—
—
—
0
0
(3029879) Epithelial cells.squamous [#/volume] in Urine by Automated count
23
142
1.82
1.57
3.3
3.3
e6/l
2.8
2.4
0.11
16
84
(3015736) pH of Urine
41
299
1.66
1.57
5.1
3.5
—
—
—
0
0
(46236098) ABO and Rh group [Type] in Blood by Confirmatory method
28
184
1.74
1.56
3.4
2.4
—
—
—
0
0
(3020460) C reactive protein [Mass/volume] in Serum or Plasma
86
776
2.27
1.55
37.7
12.7
mg/l
26.1
22.0
0.55
79
589
(3007844) Epstein Barr virus capsid IgM Ab [Units/volume] in Serum by Immunoassay
7
27
2.72
1.55
1.3
1.7
—
—
—
0
0
(3025023) Rhinovirus RNA [Presence] in Specimen by NAA with probe detection
5
15
3.46
1.54
1.0
1.7
—
—
—
0
0
(3029379) Protein.monoclonal band 4 [Mass/volume] in Serum or Plasma by Electrophoresis
6
21
2.98
1.53
1.7
2.9
g/l
0.0
0.0
—
6
21
(3015635) Cytomegalovirus IgM Ab [Units/volume] in Serum or Plasma
7
28
2.62
1.48
1.4
1.3
—
—
—
0
0
(3017918) Cytomegalovirus IgG Ab [Titer] in Serum or Plasma
7
28
2.62
1.48
1.4
1.3
—
—
—
0
0
(40760892) CBC W Ordered Manual Differential panel - Blood
26
170
1.73
1.47
11.2
5.8
—
—
—
0
0
(3021601) Nitrite [Presence] in Urine by Test strip
48
369
1.61
1.46
8.6
5.4
estimate
0.0
0.0
—
8
60
(3003191) Choriogonadotropin (pregnancy test) [Presence] in Serum or Plasma
6
22
2.84
1.46
2.0
1.5
—
—
—
0
0
(3013512) EKG study
27
179
1.71
1.45
5.5
3.8
—
—
—
0
0
(3049804) Myeloperoxidase IgG Ab [Units/volume] in Serum
7
29
2.52
1.42
1.0
1.3
—
—
—
0
0
(3009261) Glucose [Presence] in Urine by Test strip
48
371
1.60
1.42
6.1
3.9
estimate
0.0
0.0
—
8
55
(3010517) Carboxyhemoglobin/Hemoglobin.total in Venous blood
10
47
2.26
1.39
28.5
14.8
%
1.1
1.4
—
10
47
(3030306) Epithelial cells.non-squamous [#/volume] in Urine by Automated count
22
140
1.75
1.36
3.5
3.2
e6/l
0.7
0.6
0.14
15
82
(3019800) Troponin T.cardiac [Mass/volume] in Serum or Plasma
36
262
1.61
1.35
4.7
3.5
ng/l
16.3
35.6
0.67
29
177
(40762366) Oxygen capacity [Volume Fraction] in Arterial blood
9
44
2.15
1.31
11.9
12.0
—
—
—
0
0
(3004383) Neutrophil cytoplasmic Ab.classic [Titer] in Serum by Immunofluorescence
5
18
2.87
1.30
1.2
1.6
—
—
—
0
0
(3024135) Streptococcus.beta-hemolytic [Presence] in Throat by Organism specific culture
25
168
1.66
1.27
1.3
1.8
—
—
—
0
0
(3022313) Gas panel - Capillary blood
13
71
1.96
1.27
7.8
7.5
—
—
—
0
0
(36304997) Mycobacterium tuberculosis stimulated gamma interferon release by CD4+ and CD8+ T-cells [Units/volume] in Blood
6
25
2.49
1.26
1.8
1.3
—
0.0
—
0
7
(3048929) Epstein Barr virus Ab [Presence] in Serum
8
37
2.27
1.25
1.6
1.6
—
—
—
0
0
(3026008) Bacteria identified in Urine by Culture
30
213
1.60
1.23
4.0
3.0
—
—
—
0
0
(3045783) Sodium and Potassium panel [Moles/volume] - Serum or Plasma
13
72
1.93
1.22
6.3
8.1
—
—
—
0
0
(40768804) Tissue Pathology biopsy report
37
277
1.55
1.21
1.7
2.0
—
—
—
0
0
(36032419) SARS-CoV-2 (COVID-19) Ag [Presence] in Upper respiratory specimen by Immunoassay
0
33
0.00
1.19
0.0
2.5
—
—
—
0
0
(3003327) Ova and parasites identified in Stool by Light microscopy
8
39
2.15
1.18
1.5
1.5
—
—
—
0
0
(3013139) Helicobacter pylori Ag [Presence] in Stool
8
39
2.15
1.18
1.4
1.2
—
—
—
0
0
(3008909) Norovirus RNA [Presence] in Stool by NAA with probe detection
5
21
2.46
1.10
2.2
1.4
—
—
—
0
0
(3024891) Influenza virus A+B Ag [Presence] in Specimen
5
21
2.46
1.10
1.4
1.0
—
—
—
0
0
(46235355) HIV 1 and 2 tests - Meaningful Use set
24
167
1.59
1.06
2.2
1.9
—
—
—
0
0
(4010399)
9
48
1.97
1.04
1.9
1.3
—
—
—
0
0
(3001079) Blood group antibody screen [Presence] in Serum or Plasma
44
352
1.47
1.02
5.6
3.8
—
—
—
0
0
(40768443) Skin Pathology biopsy report
7
36
2.02
0.99
1.1
1.2
—
—
—
0
0
(3019250) Coagulation factor VIII activity actual/normal in Platelet poor plasma by Coagulation assay
7
37
1.96
0.96
6.0
7.8
%
160.4
183.6
—
7
37
(40761536) Microorganisms panel - Urine sediment
9
52
1.81
0.95
13.4
2.7
—
—
—
0
0
(46235759) Influenza virus B RNA [Presence] in Nasopharynx by NAA with probe detection
6
27
2.30
0.95
2.5
1.9
—
—
—
0
0
(3000330) Specific gravity of Urine by Test strip
6
29
2.14
0.91
3.2
4.9
—
—
—
0
0
(1001926) Buprenorphine [Presence] in Urine by Screen method
6
29
2.14
0.91
1.3
1.2
—
—
—
0
0
(3046870) Tissue transglutaminase IgG Ab [Units/volume] in Serum
8
43
1.94
0.90
1.4
1.1
—
—
—
0
0
(3002434) Lupus erythematosus deoxynucleoproteins IgG Ab [Units/volume] in Serum by Immunoassay
6
31
2.00
0.86
1.7
1.6
—
—
—
0
0
(3017766) Complement C4 [Mass/volume] in Serum or Plasma
6
33
1.87
0.80
2.3
1.3
g/l
0.3
0.2
—
6
33
(3023421) Hepatitis B virus surface Ab [Units/volume] in Serum
0
26
0.00
0.79
0.0
1.4
—
226.9
—
0
11
(3019225) pH of Specimen
9
54
1.74
0.77
3.0
3.9
—
—
—
0
0
(46237023) Hepatitis B virus core and surface Ab and surface Ag panel - Serum
5
24
2.14
0.76
1.4
1.2
—
—
—
0
0
(3036086) Jo-1 extractable nuclear Ab [Units/volume] in Serum by Immunoassay
5
24
2.14
0.76
1.0
1.2
—
—
—
0
0
(3019060) Gas panel - Arterial blood
7
40
1.81
0.73
6.4
4.9
—
—
—
0
0
(3045414) Leukocytes [Presence] in Urine
5
26
1.97
0.72
2.8
1.7
—
—
—
0
0
(3011397) Hemoglobin [Presence] in Urine by Test strip
24
182
1.43
0.71
4.9
3.5
—
—
—
0
0
(3011288) Drugs identified in Urine by Screen method
5
27
1.90
0.69
1.0
1.6
—
—
—
0
0
(3020564) Creatinine [Moles/volume] in Serum or Plasma
85
804
1.60
0.67
37.0
14.2
umol/l
82.2
71.5
0.96
85
804
(3022217) INR in Platelet poor plasma by Coagulation assay
12
80
1.57
0.63
26.4
21.0
—
1.6
—
0
12
(36031861) Influenza virus A and B and SARS-CoV-2 (COVID-19) and Respiratory syncytial virus RNA panel - Respiratory system specimen by NAA with probe detection
8
51
1.62
0.62
3.4
1.5
—
—
—
0
0
(40766189) Gliadin peptide IgG Ab [Units/volume] in Serum by Immunoassay
0
22
0.00
0.60
0.0
1.0
—
22.2
—
0
5
(3016879) Cocaine [Presence] in Urine
6
36
1.71
0.58
1.3
1.4
—
—
—
0
0
(3027944) Amphetamines [Presence] in Urine
6
39
1.57
0.54
1.3
1.4
—
—
—
0
0
(3028300) Cannabinoids [Presence] in Urine
6
39
1.57
0.54
1.3
1.4
—
—
—
0
0
(3027008) Opiates [Presence] in Urine
6
39
1.57
0.54
1.3
1.4
—
—
—
0
0
(3033319) Streptococcus pyogenes Ag [Presence] in Throat
15
110
1.43
0.53
1.4
1.6
—
—
—
0
0
(3000764) Benzodiazepines [Presence] in Urine
6
40
1.53
0.52
1.3
1.4
—
—
—
0
0
(3009542) Hematocrit [Volume Fraction] of Blood
77
723
1.36
0.48
40.4
16.2
%
38.4
39.6
0.84
56
571
(3044889) 12 lead EKG panel
53
478
1.25
0.44
5.8
3.3
—
—
—
0
0
(3041096) Erythrocytes [Presence] in Urine by Automated
25
208
1.28
0.41
6.8
3.4
—
—
—
0
0
(3023410) Appearance of Cerebral spinal fluid
0
17
0.00
0.41
0.0
5.4
—
—
—
0
0
(3019050) Tissue transglutaminase IgA Ab [Units/volume] in Serum
24
201
1.26
0.37
1.7
1.5
u/ml
0.5
3.4
—
6
46
(40761511) CBC panel - Blood by Automated count
83
800
1.32
0.31
28.6
10.3
—
—
—
0
0
(3019900) Cholesterol [Moles/volume] in Serum or Plasma
66
694
0.84
0.28
4.8
4.2
mmol/l
4.3
4.6
1.64
59
644
(3002256) Pathology report gross observation
9
74
1.24
0.26
1.2
1.3
—
—
—
0
0
(706163) SARS-CoV-2 (COVID-19) RNA [Presence] in Respiratory system specimen by NAA with probe detection
57
535
1.17
0.25
3.7
3.5
—
—
—
0
0
(3011371) Neisseria gonorrhoeae DNA [Presence] in Specimen by NAA with probe detection
5
42
1.20
0.22
1.2
1.8
—
—
—
0
0
(3048773) Triglyceride [Moles/volume] in Serum or Plasma --fasting
64
669
0.86
0.21
4.5
3.7
mmol/l
1.4
1.2
1.27
56
613
(3045424) Erythrocytes [Presence] in Urine
0
11
0.00
0.21
0.0
1.5
—
—
—
0
0
(3006588) Cancer Ag 15-3 [Units/volume] in Serum or Plasma
0
10
0.00
0.21
0.0
4.1
—
19.7
—
0
10
(43055361) Metamyelocytes/Leukocytes [Pure number fraction] in Blood by Manual count
0
10
0.00
0.21
0.0
2.3
—
—
—
0
0
(4268621)
0
10
0.00
0.21
0.0
1.8
—
—
—
0
0
(42529200) Cancer Ag 15-3 [Units/volume] in Serum or Plasma by Immunoassay
0
12
0.00
0.21
0.0
2.3
—
21.1
—
0
12
(40766183) Gliadin peptide IgA Ab [Units/volume] in Serum by Immunoassay
0
12
0.00
0.21
0.0
1.1
—
6.3
—
0
5
(3000855) Microscopic observation [Identifier] in Vaginal fluid by Gram stain
0
14
0.00
0.20
0.0
1.2
—
—
—
0
0
(3044491) Cholesterol non HDL [Mass/volume] in Serum or Plasma
6
50
1.21
0.20
1.2
1.4
—
—
—
0
0
(40763086) Leukocyte esterase [Presence] in Urine by Automated test strip
32
292
1.15
0.20
7.0
3.8
—
—
—
0
0
(3023602) Cholesterol in HDL [Moles/volume] in Serum or Plasma
66
686
0.87
0.19
4.7
4.1
mmol/l
1.4
1.5
0.54
59
628
(3002109) Cholesterol in LDL/Cholesterol in HDL [Mass Ratio] in Serum or Plasma
7
61
1.16
0.18
1.4
1.6
—
—
—
0
0
(3013603) Prostate specific Ag [Mass/volume] in Serum or Plasma
21
188
1.15
0.16
3.6
4.3
ug/l
1.7
1.9
0.29
21
166
(3001308) Cholesterol in LDL [Moles/volume] in Serum or Plasma
68
703
0.88
0.16
5.1
4.6
mmol/l
2.4
2.7
2.45
62
650
(36660697) Celiac disease serology panel - Serum
9
78
1.17
0.16
1.2
1.2
—
—
—
0
0
(1761868) Lipid panel - Serum or Plasma
26
239
1.12
0.14
3.0
2.6
—
—
—
0
0
(3019832) Treponema pallidum Ab [Presence] in Serum
11
94
1.19
0.14
1.8
1.7
—
—
—
0
0
(3002385) Erythrocyte distribution width [Ratio]
67
688
0.91
0.11
48.5
16.5
%
14.2
13.6
2.49
67
679
(3048689) Calprotectin [Mass/mass] in Stool
12
106
1.15
0.10
1.8
3.8
ug/g
91.7
119.2
0.33
12
84
(3018006) Microscopic observation [Identifier] in Cervix by Cyto stain.thin prep
12
106
1.15
0.10
1.8
1.3
—
—
—
0
0
(3030981) Hyaline casts [#/volume] in Urine by Automated count
5
43
1.17
0.10
2.4
2.9
e6/l
0.0
0.1
—
5
43
(3026989) Triiodothyronine (T3) Free [Moles/volume] in Serum or Plasma
5
44
1.14
0.10
6.0
2.9
pmol/l
4.7
4.9
—
5
39
(3004410) Hemoglobin A1c/Hemoglobin.total in Blood
64
657
0.92
0.09
7.3
5.2
mmol/mol
39.3
39.6
0.10
58
615
(43054914) Glucose tolerance 2 hours panel - Serum or Plasma
7
63
1.12
0.08
1.4
2.1
—
—
—
0
0
(40764999) Glomerular filtration rate/1.73 sq M.predicted [Volume Rate/Area] in Serum, Plasma or Blood by Creatinine-based formula (CKD-EPI)
67
655
1.08
0.08
29.5
11.1
ml/min/173m2
83.0
85.0
0.21
58
504
(3003510) Neisseria gonorrhoeae DNA [Presence] in Urine by NAA with probe detection
8
92
0.86
0.07
3.1
2.3
—
—
—
0
0
(3024950) Chlamydia trachomatis DNA [Presence] in Urine by NAA with probe detection
9
104
0.85
0.06
3.2
2.4
—
—
—
0
0
(3001784) Prostate Specific Ag Free/Prostate specific Ag.total in Serum or Plasma
15
160
0.93
0.04
4.5
3.9
%
28.3
23.0
—
9
72
(3003694) ABO and Rh group [Type] in Blood
23
223
1.04
0.01
1.7
1.5
—
—
—
0
0
(3041942) Cyclic citrullinated peptide Ab [Units/volume] in Serum
11
109
1.01
0.00
1.8
1.2
u/ml
4.5
7.8
—
5
46
(3019601) Blood group antibody investigation [Interpretation] in Plasma or RBC
0
6
0.00
0.00
0.0
1.2
—
—
—
0
0
(3016724) Homocysteine [Moles/volume] in Serum or Plasma
0
6
0.00
0.00
0.0
1.5
—
10.2
—
0
6
(3044242) Glucose [Moles/volume] in Arterial blood
0
5
0.00
0.00
0.0
2.0
—
—
—
0
0
(4027681)
0
7
0.00
0.00
0.0
1.0
—
—
—
0
0
(40768800) Prostate Pathology biopsy report
0
5
0.00
0.00
0.0
1.6
—
—
—
0
0
(40759883) Oligoclonal Bands IgG [Presence] in Cerebral spinal fluid by Isoelectric focusing
0
7
0.00
0.00
0.0
1.0
—
—
—
0
0
(3000963) Hemoglobin [Mass/volume] in Blood
87
868
1.03
0.00
52.1
19.8
g/l
128.9
135.4
3.40
87
857
(3029493) Herpes virus 6 DNA [Presence] in Blood by NAA with probe detection
0
5
0.00
0.00
0.0
3.2
—
—
—
0
0
(42868414) European tick borne encephalitis virus IgM Ab [Presence] in Serum by Immunoassay
0
6
0.00
0.00
0.0
1.3
—
—
—
0
0
(3020717) Zinc [Moles/volume] in Serum or Plasma
0
8
0.00
0.00
0.0
1.3
—
12.8
—
0
8
(42869858) Acute and chronic leukemia fusion transcript panel - Blood or Tissue by Molecular genetics method
0
5
0.00
0.00
0.0
1.0
—
—
—
0
0
(3029075) Extractable nuclear Ab panel - Serum
0
7
0.00
0.00
0.0
1.1
—
—
—
0
0
(3032352) Blasts [#/volume] in Cerebral spinal fluid
0
5
0.00
0.00
0.0
5.8
—
—
—
0
0
(3035941) MCH [Entitic mass]
87
868
1.03
0.00
51.2
19.3
pg
29.9
30.0
0.15
87
857
(3005082) Progesterone [Moles/volume] in Serum or Plasma
0
5
0.00
0.00
0.0
1.0
—
42.8
—
0
5
(3026470) Cobalt [Mass/volume] in Blood
0
5
0.00
0.00
0.0
3.0
—
6.4
—
0
5
(3029937) Albumin [Presence] in Urine by Test strip
20
200
1.00
0.00
8.5
3.8
estimate
0.0
0.0
—
9
59
(3024932) HLA-DR beta [Type]
0
5
0.00
0.00
0.0
1.2
—
—
—
0
0
(3024474) Albumin [Mass/volume] in Cerebral spinal fluid
0
7
0.00
0.00
0.0
1.0
—
231.3
—
0
7
(40762119) U1 small nuclear ribonucleoprotein 70kD Ab [Units/volume] in Serum
0
9
0.00
0.00
0.0
1.1
—
—
—
0
0
(3042206) Streptococcus agalactiae Ag [Presence] in Vaginal fluid
0
9
0.00
0.00
0.0
1.0
—
—
—
0
0
(3027231) Wheat IgE Ab [Units/volume] in Serum
0
7
0.00
0.00
0.0
1.3
—
—
—
0
0
(3006093) Chlamydia trachomatis DNA [Presence] in Specimen by NAA with probe detection
5
53
0.94
0.00
1.8
1.9
—
—
—
0
0
(3042299) inFLIXimab [Mass/volume] in Serum or Plasma
0
6
0.00
0.00
0.0
17.5
—
7.6
—
0
6
(40760847) Basement membrane Ab [Titer] in Serum by Immunofluorescence
0
9
0.00
0.00
0.0
1.3
—
—
—
0
0
(3020491) Glucose [Moles/volume] in Blood
0
6
0.00
0.00
0.0
1.3
—
6.0
—
0
6
(40760848) Basement membrane zone BP180 Ab [Units/volume] in Serum by Immunoassay
0
5
0.00
0.00
0.0
1.2
—
—
—
0
0
(1617658) Protocol used for examination of sentinel lymph nodes
0
5
0.00
0.00
0.0
1.0
—
—
—
0
0
(3027456) Digoxin [Moles/volume] in Serum or Plasma
0
8
0.00
0.00
0.0
3.1
—
0.7
—
0
8
(3014702) Chromogranin A [Moles/volume] in Serum or Plasma
0
9
0.00
0.00
0.0
2.3
—
3.2
—
0
9
(21494670) JAK2 gene exon 14 targeted mutation analysis in Blood or Tissue by Molecular genetics method
0
8
0.00
0.00
0.0
1.0
—
—
—
0
0
(3036535) Thyroglobulin [Mass/volume] in Serum or Plasma
0
6
0.00
0.00
0.0
4.3
—
—
—
0
0
(3048821) Cortisol [Moles/volume] in Serum or Plasma --post 1 mg dexamethasone PO overnight
0
7
0.00
0.00
0.0
1.6
—
—
—
0
0
(40767663) Brazil Nut recombinant (rBer e) 1 IgE Ab [Units/volume] in Serum
0
6
0.00
0.00
0.0
1.5
—
—
—
0
0
(3019897) Erythrocyte distribution width [Ratio] by Automated count
0
7
0.00
0.00
0.0
2.7
—
13.3
—
0
7
(3003245) Complement C1 esterase inhibitor [Mass/volume] in Serum or Plasma
0
5
0.00
0.00
0.0
1.0
—
0.3
—
0
5
(3045462) Protein/Creatinine [Ratio] in Urine
0
6
0.00
0.00
0.0
4.2
—
44.3
—
0
6
(3024731) MCV [Entitic volume]
87
868
1.03
0.00
51.2
19.3
fl
90.1
89.8
0.17
87
857
(44816844) Macroprolactin [Units/volume] in Serum or Plasma
0
6
0.00
0.00
0.0
1.2
—
—
—
0
0
(3013727) Leukocytes other/100 leukocytes in Blood
0
6
0.00
0.00
0.0
1.7
—
66.2
—
0
6
(44816752) ERBB2 gene copy number/nucleus in Tissue by FISH
0
6
0.00
0.00
0.0
1.2
—
—
—
0
0
(3024471) HLA-A [Type]
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]
Extremity
rg [CI]
Extremity
Hits
Coloc Hits
FinRegistry
FinnGen
FinRegistry
FinnGen
FinnGen
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