No definition available.
Severe combined immunodeficiency [SCID] with reticular dysgenesis
D3_SCIDA
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. |
109 |
4. Check minimum number of eventsNone |
109 |
5. Include endpointsNone |
109 |
6. Filter based on genotype QC (FinnGen only) |
109 |
Control definitions (FinnGen only)
- Control exclude
- D3_IMMUNEMECHANISM
Extra metadata
- Level in the ICD hierarchy
- 4
- First used in FinnGen datafreeze
- DF2
- Parent code in ICD-10
- D81
- Name in latin
- Deficientia immunalis mixta gravis cum dysgenesia reticulari
Similar endpoints
↥List of similar endpoints to
Severe combined immunodeficiency [SCID] with reticular dysgenesis
based on the number of shared cases.
Similar with more cases:
- Combined immunodeficiencies
- Immunodeficiencies
- Certain disorders involving the immune mechanism
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism
- Any operation in hilmo
Similar with less cases:
None
Case counts by codes
↥
Summary Statistics
↥-FinRegistry-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | |||
| Whole population | 872 | 485 | 380 |
| Only index persons | 752 | 436 | 316 |
| Unadjusted period prevalence (%) | |||
| Whole population | 0.01 | 0.01 | 0.01 |
| Only index persons | 0.01 | 0.02 | 0.01 |
| Median age at first event (years) | |||
| Whole population | 54.06 | 50.10 | 58.88 |
| Only index persons | 51.47 | 48.96 | 54.94 |
-FinnGen-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | 109 | 63 | 46 |
| Unadjusted period prevalence (%) | 0.02 | 0.02 | 0.02 |
| Median age at first event (years) | 52.67 | 46.37 | 61.31 |
-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
- 98
- Matched controls
- 979
Code
Vocabulary
Description
Odds Ratio
-log10(p)
N matched cases
N matched controls
D81.0
ICD-10 Finland
Severe combined immunodeficiency [SCID] with reticular dysgenesis
+∞
141.2
98
*
T81.0
ICD-10 Finland
Haemorrhage and haematoma complicating a procedure, not elsewhere classified
18.2
22.5
36
30
Y83
ICD-10 Finland
Surgical operation and other surgical procedures as the cause of abnormal reaction of the patient, or of later complication, without mention of misadventure at the time of the procedure
8.4
11.5
26
40
D80.1
ICD-10 Finland
Nonfamilial hypogammaglobulinaemia
+∞
9.5
9
*
ZXD05
NOMESCO Finland
Urgent procedure
4.0
9.3
50
204
120
Kela drug reimbursment
Hypogammaglobulinaemia
+∞
8.4
8
*
M05BA04
ATC
alendronic acid; oral
8.2
8.2
18
26
UJD10
NOMESCO Finland
Esophagoscopy, gastroscopy and duodenoscopy
3.5
7.3
43
179
JN3AE
NOMESCO Finland
Abdominal ultrasound examination
4.6
6.3
22
58
D80.9
ICD-10 Finland
Immunodeficiency with predominantly antibody defects, unspecified
+∞
6.3
6
*
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
(3015399) Transferrin receptor.soluble [Mass/volume] in Serum or Plasma
44
195
3.11
7.36
3.4
1.9
mg/l
3.3
3.2
0.11
39
178
(3007853) Bacteria identified in Skin by Aerobe culture
28
100
3.42
6.61
3.3
1.6
—
—
—
0
0
(3022948) Iron [Moles/volume] in Serum or Plasma
32
128
3.12
6.26
4.6
2.6
umol/l
12.6
14.7
0.60
27
114
(3032080) INR in Blood by Coagulation assay
60
348
2.61
5.69
11.6
7.5
inr
1.0
1.2
2.79
16
105
(3016431) Calcium.ionized [Moles/volume] adjusted to pH 7.4 in Serum or Plasma
65
396
2.59
5.51
15.5
7.2
mmol/l
1.2
1.2
0.69
55
338
(3021347) Calcium.ionized [Moles/volume] in Serum or Plasma
61
367
2.50
5.22
14.1
6.1
mmol/l
1.2
1.2
0.31
54
333
(586526) SARS-CoV-2 (COVID-19) RNA [Presence] in Nasopharynx by NAA with probe detection
15
42
3.98
4.96
1.5
1.3
—
—
—
0
0
(3042936) Bacteria identified in Isolate by Culture
28
123
2.72
4.52
3.4
1.8
—
—
—
0
0
(3008909) Norovirus RNA [Presence] in Stool by NAA with probe detection
11
27
4.42
4.27
2.4
1.3
—
—
—
0
0
(3051552) Clostridioides difficile toxin genes [Presence] in Stool by NAA with probe detection
17
58
3.29
4.23
2.2
1.4
—
—
—
0
0
(3044640) Blood type and Crossmatch panel - Blood
47
271
2.29
4.20
3.8
2.3
—
—
—
0
0
(3001604) Monocytes [#/volume] in Blood
64
420
2.27
4.18
12.9
6.1
e9/l
0.6
0.6
0.95
57
369
(3001122) Ferritin [Mass/volume] in Serum or Plasma
59
375
2.25
4.16
4.3
2.6
ug/l
200.8
103.7
1.20
54
344
(3006315) Basophils [#/volume] in Blood
64
421
2.26
4.15
13.0
6.2
e9/l
0.0
0.0
0.09
57
369
(3018418) pH of Serum or Plasma
44
249
2.29
4.09
9.6
4.4
ph
7.4
7.4
0.23
11
48
(46236952) Glomerular filtration rate/1.73 sq M.predicted [Volume Rate/Area] in Serum, Plasma or Blood by Creatinine-based formula (MDRD)
17
60
3.17
4.00
2.1
2.7
ml/min/173m2
58.8
65.0
—
6
24
(3013115) Eosinophils [#/volume] in Blood
65
438
2.20
3.88
13.2
6.4
e9/l
0.2
0.2
0.25
59
389
(3019198) Lymphocytes [#/volume] in Blood
64
430
2.18
3.83
13.0
6.2
e9/l
1.7
1.8
0.39
59
385
(3023368) Bacteria identified in Blood by Culture
39
219
2.22
3.63
5.6
4.0
—
—
—
0
0
(3032035) Polymorphonuclear cells/100 leukocytes in Blood
8
14
6.07
3.41
5.6
3.6
%
57.0
59.1
—
8
14
(3030905) Polymorphonuclear cells [#/volume] in Blood
8
14
6.07
3.41
5.5
2.4
e9/l
4.0
4.3
—
8
14
(3021440) Promyelocytes/100 leukocytes in Blood
16
61
2.90
3.31
5.3
5.8
%
0.4
0.1
—
5
22
(3019902) Methicillin resistant Staphylococcus aureus [Presence] in Specimen by Organism specific culture
20
87
2.59
3.24
4.2
3.1
—
—
—
0
0
(3019284) Hepatitis B virus surface Ag [Presence] in Serum
26
129
2.33
3.20
2.3
1.7
—
—
—
0
0
(3019309) Folate [Moles/volume] in Red Blood Cells
29
153
2.22
3.09
1.8
1.8
nmol/l
1263.5
1280.8
0.03
23
120
(3037522) Nuclear Ab [Titer] in Serum
24
117
2.35
3.06
1.8
1.4
titre
354.3
516.4
—
7
33
(3052649) Adenosine deaminase [Enzymatic activity/volume] in Serum or Plasma
5
5
10.39
3.01
2.4
1.4
u/l
16.6
15.2
—
5
5
(3017181) Myelocytes/100 leukocytes in Blood
16
66
2.67
2.86
5.5
5.6
%
2.4
0.7
—
5
26
(3009508) Creatinine [Moles/volume] in Urine
41
255
1.97
2.81
4.2
2.8
mmol/l
6.2
7.9
1.88
32
218
(3007847) Interleukin 2 Receptor Soluble [Units/volume] in Serum or Plasma
5
6
8.65
2.77
5.8
1.3
u/ml
801.2
929.3
—
5
6
(40771025) 25-Hydroxyvitamin D3+25-Hydroxyvitamin D2 [Moles/volume] in Serum or Plasma
51
343
1.91
2.77
3.5
2.4
nmol/l
78.8
76.2
0.26
46
295
(3013650) Neutrophils [#/volume] in Blood by Automated count
68
503
1.94
2.77
13.3
10.2
e9/l
4.5
4.1
0.66
61
444
(3030467) Casts [#/volume] in Urine by Automated count
40
248
1.97
2.76
3.6
3.0
e6/l
0.2
0.4
0.91
31
184
(3034770) Mitochondria Ab [Titer] in Serum
8
19
4.46
2.73
1.1
1.3
—
—
—
0
0
(46236098) ABO and Rh group [Type] in Blood by Confirmatory method
33
192
2.03
2.71
5.3
2.2
—
—
—
0
0
(3014162) Mycobacterium tuberculosis DNA [Presence] in Specimen by NAA with probe detection
9
25
3.83
2.64
2.4
3.0
—
—
—
0
0
(43054903) Holo-transcobalamin II [Moles/volume] in Serum
47
313
1.88
2.60
2.3
2.0
pmol/l
96.6
94.2
0.13
31
151
(3044938) Influenza virus A RNA [Presence] in Specimen by NAA with probe detection
25
133
2.14
2.58
2.2
1.7
—
—
—
0
0
(3001079) Blood group antibody screen [Presence] in Serum or Plasma
56
398
1.84
2.49
7.7
3.9
—
—
—
0
0
(3000494) Fungus identified in Specimen by Culture
20
100
2.22
2.39
1.5
1.4
—
—
—
0
0
(3025941) Bacteria identified in Stool by Culture
12
47
2.75
2.36
1.4
1.2
—
—
—
0
0
(3030306) Epithelial cells.non-squamous [#/volume] in Urine by Automated count
25
138
2.05
2.34
2.4
2.7
e6/l
0.9
0.8
0.09
14
74
(36304419) Bacteria [Presence] in Urine
38
244
1.86
2.31
3.7
2.8
—
—
—
0
0
(40769539) Bacteria identified based on 16S rRNA gene [Identifier] in Specimen by Sequencing
6
13
4.81
2.30
1.5
1.2
—
—
—
0
0
(3016650) Hepatitis A virus Ab [Presence] in Serum
6
13
4.81
2.30
1.0
1.0
—
—
—
0
0
(3029287) Urinalysis microscopic panel [#/volume] - Urine by Automated count
46
314
1.80
2.29
5.4
3.2
—
—
—
0
0
(42870588) Differential panel, method unspecified - Blood
42
279
1.82
2.28
12.9
5.5
—
—
—
0
0
(3021589) Normoblasts [#/volume] in Blood
53
378
1.78
2.28
16.0
9.5
e9/l
0.0
0.0
0.47
44
305
(40768804) Tissue Pathology biopsy report
50
353
1.77
2.21
2.8
1.9
—
—
—
0
0
(3028167) CD3+CD4+ (T4 helper) cells [#/volume] in Blood
5
10
5.18
2.09
1.2
1.6
—
653.0
—
0
5
(3050238) Crystals [Presence] in Synovial fluid by Light microscopy
6
15
4.17
2.07
2.3
1.2
—
—
—
0
0
(1616796) Gas panel - Central venous blood
5
11
4.71
1.96
3.2
3.3
—
—
—
0
0
(3021901) Oxygen saturation in Capillary blood
5
11
4.71
1.96
1.4
2.8
—
—
—
0
0
(3013327) Hepatitis A virus IgM Ab [Presence] in Serum
5
11
4.71
1.96
1.0
1.0
—
—
—
0
0
(3034780) Angiotensin converting enzyme [Enzymatic activity/volume] in Serum or Plasma
9
34
2.79
1.91
1.0
1.2
u/l
37.9
32.4
—
9
29
(3020891) Body temperature
9
34
2.79
1.91
6.4
5.1
—
—
—
0
0
(3004383) Neutrophil cytoplasmic Ab.classic [Titer] in Serum by Immunofluorescence
7
22
3.33
1.91
1.0
1.6
—
—
—
0
0
(3002582) Erythrocytes [#/volume] in Urine
40
275
1.72
1.88
4.1
3.2
e6/l
24.4
45.7
0.59
31
211
(3005702) Mycobacterium sp identified in Specimen by Organism specific culture
6
17
3.67
1.86
1.7
1.4
—
—
—
0
0
(3026389) Candida sp identified in Specimen by Organism specific culture
5
12
4.31
1.84
1.0
1.3
—
—
—
0
0
(3019250) Coagulation factor VIII activity actual/normal in Platelet poor plasma by Coagulation assay
7
23
3.18
1.83
2.3
3.2
%
184.9
192.1
—
7
23
(40761535) Cells panel - Urine sediment
14
68
2.21
1.79
6.4
4.1
—
—
—
0
0
(3013290) Carbon dioxide [Partial pressure] in Blood
5
13
3.98
1.73
2.6
2.5
kpa
5.4
4.9
—
5
13
(3027315) Oxygen [Partial pressure] in Blood
5
13
3.98
1.73
2.4
2.5
kpa
9.0
9.0
—
5
13
(3015816) F5 gene p.Arg506Gln [Presence] in Blood or Tissue by Molecular genetics method
5
13
3.98
1.73
1.2
1.2
—
—
—
0
0
(46235355) HIV 1 and 2 tests - Meaningful Use set
25
153
1.82
1.73
2.3
1.8
—
—
—
0
0
(3018095) Leukocytes [#/volume] in Urine
45
327
1.64
1.69
5.0
3.8
e6/l
495.3
35.2
0.54
34
230
(3029879) Epithelial cells.squamous [#/volume] in Urine by Automated count
22
131
1.85
1.65
3.0
2.9
e6/l
3.8
2.7
0.20
11
68
(3022313) Gas panel - Capillary blood
8
32
2.62
1.63
16.4
3.6
—
—
—
0
0
(3000991) Gas panel - Venous blood
14
72
2.08
1.57
16.7
8.9
—
—
—
0
0
(36305247) Microscopic observation [Identifier] in Isolate by Gram stain
6
21
2.96
1.53
2.0
1.2
—
—
—
0
0
(3002256) Pathology report gross observation
18
103
1.90
1.52
1.6
1.2
—
—
—
0
0
(40761536) Microorganisms panel - Urine sediment
13
66
2.10
1.50
3.6
3.5
—
—
—
0
0
(3012516) Albumin [Mass/volume] in Urine
35
245
1.63
1.50
4.5
3.0
mg/l
75.0
331.3
0.48
21
157
(3004588) Protein electrophoresis panel - Serum or Plasma
12
59
2.16
1.50
1.1
2.5
—
—
—
0
0
(3007164) IgA [Mass/volume] in Serum or Plasma
27
177
1.70
1.48
3.1
1.5
g/l
2.3
2.8
0.51
13
110
(3002032) Base excess in Venous blood by calculation
14
75
1.99
1.42
9.9
4.6
mmol/l
3.1
2.4
—
8
51
(3013707) Erythrocyte sedimentation rate by Westergren method
78
665
1.61
1.40
7.9
4.1
mm/h
16.5
11.6
1.93
70
608
(3012544) pH of Venous blood
14
76
1.97
1.37
9.9
4.5
—
—
—
0
0
(3021337) Troponin I.cardiac [Mass/volume] in Serum or Plasma
25
164
1.68
1.36
3.3
3.0
ng/l
56.5
133.2
0.61
18
120
(3020630) Protein [Mass/volume] in Serum or Plasma
13
69
2.00
1.35
1.2
3.1
g/l
64.1
66.6
0.57
13
64
(3043924) Respiratory syncytial virus RNA [Identifier] in Specimen by NAA with probe detection
16
93
1.84
1.29
1.9
1.6
—
—
—
0
0
(3013512) EKG study
34
246
1.56
1.25
4.7
3.8
—
—
—
0
0
(40768797) Stomach Pathology biopsy report
19
118
1.74
1.25
1.8
1.2
—
—
—
0
0
(3035350) Ketones [Presence] in Urine by Test strip
56
452
1.49
1.24
4.3
3.8
estimate
0.0
0.0
0.00
13
82
(36032419) SARS-CoV-2 (COVID-19) Ag [Presence] in Upper respiratory specimen by Immunoassay
0
35
0.00
1.17
0.0
1.9
—
—
—
0
0
(3045414) Leukocytes [Presence] in Urine
7
30
2.42
1.14
1.4
1.5
—
—
—
0
0
(3020682) Albumin/Creatinine [Ratio] in Urine
35
260
1.51
1.14
5.5
3.6
mg/mmol
21.1
10.5
0.31
20
155
(3003327) Ova and parasites identified in Stool by Light microscopy
7
32
2.27
1.10
2.4
1.5
—
—
—
0
0
(3048929) Epstein Barr virus Ab [Presence] in Serum
5
21
2.44
1.10
1.4
1.3
—
—
—
0
0
(3009261) Glucose [Presence] in Urine by Test strip
56
460
1.45
1.09
4.4
3.8
estimate
0.0
0.0
0.49
12
79
(3052851) Hemolysis interference index of Serum or Plasma
7
33
2.20
1.07
3.7
2.6
—
—
—
0
0
(40768443) Skin Pathology biopsy report
7
33
2.20
1.07
1.7
1.2
—
—
—
0
0
(3051714) Fibrin D-dimer FEU [Mass/volume] in Platelet poor plasma
26
183
1.55
1.07
2.3
1.8
mg/l
1.6
1.0
0.61
21
148
(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
9
47
2.00
1.05
2.2
1.6
—
—
—
0
0
(3021601) Nitrite [Presence] in Urine by Test strip
55
454
1.43
1.02
5.9
5.2
estimate
0.0
0.0
0.00
12
82
(3017143) Hepatitis C virus Ab [Presence] in Serum
16
101
1.68
1.00
2.8
1.6
—
—
—
0
0
(3050129) First trimester maternal screen panel - Serum or Plasma
0
28
0.00
0.99
0.0
1.4
—
—
—
0
0
(3048689) Calprotectin [Mass/mass] in Stool
17
110
1.65
0.98
2.4
1.8
ug/g
106.0
82.3
0.16
11
90
(3043723) Beta 1 globulin [Mass/volume] in Serum or Plasma by Electrophoresis
7
37
1.95
0.96
1.0
2.4
—
—
—
0
0
(3015736) pH of Urine
45
362
1.41
0.95
4.6
3.6
—
—
—
0
0
(3002434) Lupus erythematosus deoxynucleoproteins IgG Ab [Units/volume] in Serum by Immunoassay
6
27
2.29
0.95
1.3
1.7
—
—
—
0
0
(3045783) Sodium and Potassium panel [Moles/volume] - Serum or Plasma
17
113
1.60
0.88
17.5
8.7
—
—
—
0
0
(3013139) Helicobacter pylori Ag [Presence] in Stool
8
44
1.88
0.88
1.0
1.2
—
—
—
0
0
(3038288) Influenza virus B RNA [Presence] in Specimen by NAA with probe detection
15
98
1.62
0.84
2.1
1.7
—
—
—
0
0
(3008898) HLA-B27 [Presence]
6
32
1.92
0.83
1.3
1.0
—
—
—
0
0
(3019060) Gas panel - Arterial blood
10
58
1.80
0.83
5.5
4.7
—
—
—
0
0
(40758558) Short blood count panel - Blood
29
221
1.43
0.81
12.1
7.5
—
—
—
0
0
(40760892) CBC W Ordered Manual Differential panel - Blood
26
194
1.45
0.81
10.0
5.5
—
—
—
0
0
(3016293) Bicarbonate [Moles/volume] in Serum or Plasma
8
48
1.72
0.80
7.3
6.3
mmol/l
26.5
24.6
—
8
48
(3005033) Fetal Nuchal fold Thickness US
0
24
0.00
0.80
0.0
1.5
—
—
—
0
0
(40766189) Gliadin peptide IgG Ab [Units/volume] in Serum by Immunoassay
0
24
0.00
0.80
0.0
1.2
—
20.5
—
0
5
(3047352) Trisomy 18 risk [Likelihood] in Fetus
0
24
0.00
0.80
0.0
1.5
—
—
—
0
0
(3043238) Trisomy 21 risk [Likelihood] in Fetus
0
25
0.00
0.80
0.0
1.6
—
—
—
0
0
(40763531) Fetal Nuchal fold [Multiple of the median] Thickness adjusted for maternal weight
0
25
0.00
0.80
0.0
1.6
—
—
—
0
0
(3008714) Choriogonadotropin [Multiple of the median] adjusted in Serum or Plasma
0
25
0.00
0.80
0.0
1.6
—
—
—
0
0
(3049207) Fetal Trisomy 21 risk [Likelihood] Based on maternal age
0
25
0.00
0.80
0.0
1.6
—
—
—
0
0
(46235831) Pregnancy associated plasma protein A [Multiple of the median] adjusted in Serum or Plasma
0
25
0.00
0.80
0.0
1.6
—
—
—
0
0
(3019145) Choriogonadotropin.beta subunit free [Mass/volume] in Serum or Plasma
0
26
0.00
0.79
0.0
1.7
—
—
—
0
0
(4034850)
0
26
0.00
0.79
0.0
16.5
—
—
—
0
0
(3001308) Cholesterol in LDL [Moles/volume] in Serum or Plasma
83
895
0.70
0.79
5.5
4.9
mmol/l
2.5
2.8
1.80
74
822
(3019050) Tissue transglutaminase IgA Ab [Units/volume] in Serum
26
195
1.44
0.79
1.3
1.3
u/ml
0.4
2.0
—
5
61
(3019225) pH of Specimen
11
67
1.71
0.78
14.3
4.5
—
—
—
0
0
(3011397) Hemoglobin [Presence] in Urine by Test strip
28
215
1.41
0.75
4.6
3.8
—
—
—
0
0
(3024950) Chlamydia trachomatis DNA [Presence] in Urine by NAA with probe detection
12
77
1.63
0.72
1.7
1.9
—
—
—
0
0
(3000330) Specific gravity of Urine by Test strip
7
41
1.75
0.71
2.4
3.8
—
—
—
0
0
(3044254) Respiratory syncytial virus RNA [Presence] in Specimen by NAA with probe detection
5
27
1.89
0.69
2.2
1.6
—
—
—
0
0
(3019800) Troponin T.cardiac [Mass/volume] in Serum or Plasma
41
340
1.33
0.69
5.8
3.9
ng/l
32.8
32.2
0.03
33
235
(3035797) Protein.monoclonal band 2 [Mass/volume] in Serum or Plasma by Electrophoresis
5
28
1.82
0.67
1.0
2.7
g/l
0.0
0.0
—
5
28
(3008486) Thyroxine (T4) free [Moles/volume] in Serum or Plasma
74
669
1.33
0.66
5.3
3.8
pmol/l
14.6
14.8
0.23
67
611
(3019900) Cholesterol [Moles/volume] in Serum or Plasma
82
879
0.73
0.66
5.1
4.4
mmol/l
4.3
4.7
2.26
72
811
(3009035) Cobalamin (Vitamin B12) [Moles/volume] in Serum or Plasma
24
184
1.39
0.65
2.0
1.8
pmol/l
428.1
443.0
0.09
18
158
(46235759) Influenza virus B RNA [Presence] in Nasopharynx by NAA with probe detection
5
29
1.76
0.64
2.8
1.9
—
—
—
0
0
(706163) SARS-CoV-2 (COVID-19) RNA [Presence] in Respiratory system specimen by NAA with probe detection
64
570
1.30
0.62
2.8
3.1
—
—
—
0
0
(3023602) Cholesterol in HDL [Moles/volume] in Serum or Plasma
82
877
0.74
0.62
5.1
4.4
mmol/l
1.4
1.5
0.63
73
803
(3037467) Urinalysis macro (dipstick) panel - Urine
67
603
1.29
0.59
8.2
4.3
—
—
—
0
0
(3002109) Cholesterol in LDL/Cholesterol in HDL [Mass Ratio] in Serum or Plasma
5
90
0.53
0.58
1.8
1.8
—
—
—
0
0
(3005772) Bilirubin.conjugated [Moles/volume] in Serum or Plasma
14
99
1.48
0.57
3.6
2.5
umol/l
5.1
9.3
1.37
14
87
(3046870) Tissue transglutaminase IgG Ab [Units/volume] in Serum
6
40
1.53
0.52
1.2
1.1
—
—
—
0
0
(3029937) Albumin [Presence] in Urine by Test strip
29
242
1.27
0.45
5.1
4.1
estimate
0.0
0.0
0.00
13
75
(4035726)
12
87
1.43
0.44
1.2
1.3
—
—
—
0
0
(3050380) Cytology report of Cervical or vaginal smear or scraping Cyto stain
5
32
1.59
0.43
1.2
1.3
—
—
—
0
0
(3049804) Myeloperoxidase IgG Ab [Units/volume] in Serum
5
32
1.59
0.43
1.0
1.2
—
—
—
0
0
(3014702) Chromogranin A [Moles/volume] in Serum or Plasma
0
15
0.00
0.41
0.0
3.6
—
2.7
—
0
15
(40766183) Gliadin peptide IgA Ab [Units/volume] in Serum by Immunoassay
0
16
0.00
0.41
0.0
1.2
—
4.0
—
0
6
(3006588) Cancer Ag 15-3 [Units/volume] in Serum or Plasma
0
17
0.00
0.41
0.0
3.4
—
56.6
—
0
17
(3026008) Bacteria identified in Urine by Culture
31
265
1.24
0.39
3.1
2.9
—
—
—
0
0
(4010399)
9
68
1.35
0.39
1.7
1.3
—
—
—
0
0
(1761868) Lipid panel - Serum or Plasma
28
326
0.81
0.38
3.7
2.7
—
—
—
0
0
(40763086) Leukocyte esterase [Presence] in Urine by Automated test strip
40
356
1.20
0.34
4.7
3.9
—
—
—
0
0
(3021614) Rheumatoid factor [Units/volume] in Serum or Plasma
20
165
1.26
0.34
1.8
1.2
iu/ml
20.0
35.6
0.69
11
52
(3044889) 12 lead EKG panel
66
615
1.19
0.33
5.4
3.6
—
—
—
0
0
(3018006) Microscopic observation [Identifier] in Cervix by Cyto stain.thin prep
18
148
1.26
0.32
2.1
1.3
—
—
—
0
0
(3021879) Hepatitis B virus core Ab [Presence] in Serum
8
64
1.27
0.28
2.1
1.5
—
—
—
0
0
(3033319) Streptococcus pyogenes Ag [Presence] in Throat
9
73
1.25
0.26
1.9
1.4
—
—
—
0
0
(21494755) Public health laboratory ask at order entry panel
6
85
0.69
0.25
1.2
1.4
—
—
—
0
0
(3011371) Neisseria gonorrhoeae DNA [Presence] in Specimen by NAA with probe detection
5
37
1.37
0.24
1.6
1.9
—
—
—
0
0
(3020460) C reactive protein [Mass/volume] in Serum or Plasma
90
872
1.18
0.22
32.4
13.6
mg/l
21.8
22.5
0.09
78
676
(3048773) Triglyceride [Moles/volume] in Serum or Plasma --fasting
82
849
0.86
0.22
4.5
3.9
mmol/l
1.4
1.2
0.85
73
773
(40762366) Oxygen capacity [Volume Fraction] in Arterial blood
5
42
1.20
0.22
8.8
8.5
—
—
—
0
0
(3003694) ABO and Rh group [Type] in Blood
25
222
1.16
0.21
1.5
1.5
—
—
—
0
0
(21494670) JAK2 gene exon 14 targeted mutation analysis in Blood or Tissue by Molecular genetics method
0
11
0.00
0.21
0.0
1.1
—
—
—
0
0
(3014973) Borrelia burgdorferi IgM Ab [Units/volume] in Cerebral spinal fluid
0
11
0.00
0.21
0.0
1.2
—
—
—
0
0
(3016018) Differential panel - Cerebral spinal fluid
0
10
0.00
0.21
0.0
1.1
—
—
—
0
0
(3010380) Borrelia burgdorferi IgG Ab [Units/volume] in Cerebral spinal fluid
0
10
0.00
0.21
0.0
1.2
—
—
—
0
0
(3023410) Appearance of Cerebral spinal fluid
0
12
0.00
0.21
0.0
1.1
—
—
—
0
0
(40768795) Lymph node Pathology biopsy report
0
13
0.00
0.21
0.0
1.1
—
—
—
0
0
(3009201) Thyrotropin [Units/volume] in Serum or Plasma
84
811
1.16
0.21
6.2
4.6
mu/l
2.5
1.9
0.46
77
735
(3018387) Mycoplasma pneumoniae IgG Ab [Units/volume] in Serum
0
14
0.00
0.20
0.0
1.1
—
—
—
0
0
(3019150) Specific gravity of Urine by Refractometry
23
204
1.16
0.20
5.4
4.4
—
1.0
—
0
29
(3022145) Colonoscopy Study observation
12
100
1.22
0.19
1.0
1.3
—
—
—
0
0
(3009542) Hematocrit [Volume Fraction] of Blood
77
796
0.89
0.17
32.1
14.5
%
36.9
39.7
1.26
55
596
(3018251) Fasting glucose [Moles/volume] in Serum or Plasma
82
842
0.89
0.14
5.7
4.5
mmol/l
6.0
5.9
0.14
74
776
(43054914) Glucose tolerance 2 hours panel - Serum or Plasma
10
86
1.18
0.11
2.4
1.9
—
—
—
0
0
(3006093) Chlamydia trachomatis DNA [Presence] in Specimen by NAA with probe detection
5
44
1.14
0.10
1.6
2.0
—
—
—
0
0
(3022621) pH of Urine by Test strip
6
56
1.08
0.09
2.2
2.6
—
—
—
0
0
(3041942) Cyclic citrullinated peptide Ab [Units/volume] in Serum
17
156
1.11
0.08
1.9
1.2
u/ml
1.2
8.6
—
5
63
(3004410) Hemoglobin A1c/Hemoglobin.total in Blood
80
816
0.93
0.08
6.8
5.7
mmol/mol
41.0
40.0
0.31
73
754
(3000492) Spirometry study
7
64
1.10
0.08
3.4
1.3
—
—
—
0
0
(3003510) Neisseria gonorrhoeae DNA [Presence] in Urine by NAA with probe detection
7
65
1.08
0.08
1.7
1.8
—
—
—
0
0
(36660697) Celiac disease serology panel - Serum
8
74
1.09
0.07
1.0
1.1
—
—
—
0
0
(3019832) Treponema pallidum Ab [Presence] in Serum
7
83
0.83
0.07
2.1
1.6
—
—
—
0
0
(40761511) CBC panel - Blood by Automated count
92
930
0.93
0.04
29.5
12.1
—
—
—
0
0
(3041096) Erythrocytes [Presence] in Urine by Automated
27
260
1.05
0.03
3.8
3.3
—
—
—
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)
83
837
0.96
0.01
24.2
12.8
ml/min/173m2
80.5
81.1
0.07
77
679
(3024135) Streptococcus.beta-hemolytic [Presence] in Throat by Organism specific culture
16
154
1.05
0.00
1.5
1.5
—
—
—
0
0
(3025839) Triglyceride [Moles/volume] in Serum or Plasma
23
228
1.01
0.00
1.7
1.8
mmol/l
1.7
1.4
0.72
16
195
(3001784) Prostate Specific Ag Free/Prostate specific Ag.total in Serum or Plasma
21
215
0.97
0.00
5.4
4.4
%
22.6
22.1
0.04
13
104
(3011436) Histone Ab [Units/volume] in Serum
0
5
0.00
0.00
0.0
1.2
—
—
—
0
0
(3024474) Albumin [Mass/volume] in Cerebral spinal fluid
0
8
0.00
0.00
0.0
1.0
—
245.8
—
0
8
(3020876) Protein [Mass/time] in 24 hour Urine
0
5
0.00
0.00
0.0
2.0
—
—
—
0
0
(3037875) Bordetella parapertussis DNA [Presence] in Specimen by NAA with probe detection
0
6
0.00
0.00
0.0
1.2
—
—
—
0
0
(36305771) Cryptosporidium sp DNA [Presence] in Stool by NAA with probe detection
0
9
0.00
0.00
0.0
1.0
—
—
—
0
0
(3051593) INR in Capillary blood by Coagulation assay
0
7
0.00
0.00
0.0
10.1
—
—
—
0
0
(3008832) Norclozapine [Moles/volume] in Serum or Plasma
0
6
0.00
0.00
0.0
9.8
—
851.8
—
0
6
(3019497) Choriogonadotropin.beta subunit free [Moles/volume] in Serum or Plasma
0
5
0.00
0.00
0.0
1.2
—
—
—
0
0
(3029080) Hemoglobin [Entitic mass] in Reticulocytes
0
7
0.00
0.00
0.0
1.0
—
32.7
—
0
7
(40759849) Smith extractable nuclear Ab [Presence] in Serum by Immunoblot
0
6
0.00
0.00
0.0
1.3
—
—
—
0
0
(44816752) ERBB2 gene copy number/nucleus in Tissue by FISH
0
5
0.00
0.00
0.0
1.0
—
—
—
0
0
(40758897) Direct antiglobulin test.IgG specific reagent [Presence] on Red Blood Cells
0
5
0.00
0.00
0.0
3.0
—
—
—
0
0
(21491868) Cryoglobulin [Mass/volume] in Serum
0
5
0.00
0.00
0.0
1.0
—
—
—
0
0
(3028433) Virus identified in Specimen by Culture
0
5
0.00
0.00
0.0
1.8
—
—
—
0
0
(3032699) Streptococcus pneumoniae DNA [Presence] in Specimen by NAA with probe detection
0
7
0.00
0.00
0.0
1.4
—
—
—
0
0
(40759812) SCL-70 extractable nuclear Ab [Presence] in Serum by Immunoblot
0
6
0.00
0.00
0.0
1.3
—
—
—
0
0
(3042206) Streptococcus agalactiae Ag [Presence] in Vaginal fluid
0
6
0.00
0.00
0.0
1.2
—
—
—
0
0
(42529582) MDA5 Ab [Presence] in Serum by Line blot
0
5
0.00
0.00
0.0
1.0
—
—
—
0
0
(40759842) Ribonucleoprotein extractable nuclear Ab [Presence] in Serum by Immunoblot
0
6
0.00
0.00
0.0
1.3
—
—
—
0
0
(3033386) Bacteria [Presence] in Cerebral spinal fluid by Light microscopy
0
5
0.00
0.00
0.0
1.4
—
—
—
0
0
(42529598) SUMO-activating enzyme subunit 1 Ab [Presence] in Serum by Line blot
0
5
0.00
0.00
0.0
1.0
—
—
—
0
0
(3013637) Mi-2 Ab [Presence] in Serum
0
5
0.00
0.00
0.0
1.0
—
—
—
0
0
(3012447) Hantavirus puumala IgG Ab [Titer] in Serum
0
8
0.00
0.00
0.0
1.1
—
—
—
0
0
(40758895) Direct antiglobulin test.complement C3d specific reagent [Presence] on Red Blood Cells
0
5
0.00
0.00
0.0
3.0
—
—
—
0
0
(37020937) Giardia lamblia DNA [Presence] in Stool by NAA with probe detection
0
9
0.00
0.00
0.0
1.0
—
—
—
0
0
(1001509) Gas and Carbon monoxide and Electrolytes panel - Arterial blood
0
9
0.00
0.00
0.0
1.7
—
—
—
0
0
(40764127) Haemophilus influenzae DNA [Presence] in Specimen by NAA with probe detection
0
5
0.00
0.00
0.0
1.2
—
—
—
0
0
(4027681)
0
8
0.00
0.00
0.0
1.1
—
—
—
0
0
(3010838) Calcium [Moles/time] in 24 hour Urine
0
5
0.00
0.00
0.0
1.4
—
—
—
0
0
(40764126) Parainfluenza virus RNA [Presence] in Specimen by NAA with probe detection
0
7
0.00
0.00
0.0
1.1
—
—
—
0
0
(3049539) Genetic diseases [Identifier] in Blood or Tissue by FISH Nominal
0
7
0.00
0.00
0.0
1.0
—
—
—
0
0
(3029075) Extractable nuclear Ab panel - Serum
0
5
0.00
0.00
0.0
1.0
—
—
—
0
0
(3016436) Lactate dehydrogenase [Enzymatic activity/volume] in Serum or Plasma
0
6
0.00
0.00
0.0
1.5
—
218.3
—
0
6
(3000924) Streptococcus pyogenes [Presence] in Throat by Organism specific culture
0
8
0.00
0.00
0.0
1.0
—
—
—
0
0
(3026515) Parvovirus B19 IgM Ab [Units/volume] in Serum
0
6
0.00
0.00
0.0
1.2
—
—
—
0
0
(40759844) Sjogrens syndrome-B extractable nuclear Ab [Presence] in Serum by Immunoblot
0
6
0.00
0.00
0.0
1.3
—
—
—
0
0
(40759883) Oligoclonal Bands IgG [Presence] in Cerebral spinal fluid by Isoelectric focusing
0
9
0.00
0.00
0.0
1.0
—
—
—
0
0
(3041145) Herpes simplex virus IgM Ab [Presence] in Serum by Immunoassay
0
6
0.00
0.00
0.0
1.0
—
—
—
0
0
(3011831) Apolipoprotein B/Apolipoprotein A-I [Percentile]
0
7
0.00
0.00
0.0
1.7
—
—
—
0
0
(3053028) Streptococcus sp identified in Specimen by Organism specific culture
0
6
0.00
0.00
0.0
1.0
—
—
—
0
0
(3016914) Bacteria identified in Cerebral spinal fluid by Culture
0
7
0.00
0.00
0.0
1.4
—
—
—
0
0
(3011166) Borrelia burgdorferi Ab [Presence] in Cerebral spinal fluid
0
9
0.00
0.00
0.0
1.2
—
—
—
0
0
(3030136) 5-Hydroxyindoleacetate [Moles/volume] in Serum or Plasma
0
6
0.00
0.00
0.0
3.7
—
61.8
—
0
6
(40759836) Histone Ab [Presence] in Serum by Immunoblot
0
6
0.00
0.00
0.0
1.3
—
—
—
0
0
(40759843) Sjogrens syndrome-A extractable nuclear Ab [Presence] in Serum by Immunoblot
0
6
0.00
0.00
0.0
1.3
—
—
—
0
0
(3045788) Cell count panel - Pleural fluid
0
9
0.00
0.00
0.0
1.3
—
—
—
0
0
(3016244) Insulin [Units/volume] in Serum or Plasma
0
7
0.00
0.00
0.0
3.6
—
10.7
—
0
7
(42528593) TIF1-gamma Ab [Presence] in Serum by Line blot
0
5
0.00
0.00
0.0
1.0
—
—
—
0
0
(3008364) Apolipoprotein A-I [Mass/volume] in Serum or Plasma
0
7
0.00
0.00
0.0
1.7
—
—
—
0
0
(3009550) Parvovirus B19 IgG Ab [Titer] in Serum
0
6
0.00
0.00
0.0
1.2
—
—
—
0
0
(3004915) Chlamydophila pneumoniae IgA Ab [Units/volume] in Serum
0
7
0.00
0.00
0.0
1.0
—
—
—
0
0
(3035880) pH of Pleural fluid
0
6
0.00
0.00
0.0
1.2
—
—
—
0
0
(43055089) Myosin Ab [Presence] in Serum or Plasma by Immunoblot
0
7
0.00
0.00
0.0
1.1
—
—
—
0
0
(3000012) Reticulocyte production index
0
5
0.00
0.00
0.0
1.6
—
—
—
0
0
(3000081) cloZAPine [Moles/volume] in Serum or Plasma
0
6
0.00
0.00
0.0
13.2
—
1318.5
—
0
6
(3049506) Microalbumin [Mass/time] in Urine collected for unspecified duration
0
8
0.00
0.00
0.0
1.8
—
—
—
0
0
(3028679) Herpes simplex virus Ab [Presence] in Serum
0
5
0.00
0.00
0.0
1.0
—
—
—
0
0
Mortality – FinRegistry
↥Association
Association between endpoint D3_SCIDA and mortality.
Females
| Parameter | HR [95% CI] | p-value |
|---|---|---|
| D3_SCIDA | 1.58 [1.22, 2.05] | < 0.001 |
| Birth year | 0.998 [0.99, 1.01] | 0.713 |
During the follow-up period (1.1.1998 — 31.12.2019), 107 out of 410 females with D3_SCIDA died.
Males
| Parameter | HR [95% CI] | p-value |
|---|---|---|
| D3_SCIDA | 2.004 [1.5, 2.67] | < 0.001 |
| Birth year | 0.989 [0.98, 1.0] | 0.019 |
During the follow-up period (1.1.1998 — 31.12.2019), 131 out of 318 males with D3_SCIDA died.
Mortality risk
Mortality risk for people of age
years, who have D3_SCIDA.| N-year risk | Females | Males |
|---|---|---|
| 1 | 0.107% | 0.413% |
| 5 | 0.81% | 2.358% |
| 10 | 2.497% | 6.308% |
| 15 | 4.631% | 11.351% |
| 20 | 8.111% | 18.92% |
Relationships between endpoints
↥Index endpoint: D3_SCIDA – Severe combined immunodeficiency [SCID] with reticular dysgenesis
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
Loading data