This is a non-core endpoint: only basic statistics are computed.
See these related core endpoints for full statistics:
Digeorge syndrome
D3_DIGEORGE
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. |
22 |
4. Check minimum number of eventsNone |
22 |
5. Include endpointsNone |
22 |
6. Filter based on genotype QC (FinnGen only) |
22 |
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
- D82
- Name in latin
- Syndroma Di George
Similar endpoints
↥List of similar endpoints to
Digeorge syndrome
based on the number of shared cases.
Similar with more cases:
- Immunodeficiency associated with other major defects
- Immunodeficiencies
- Certain disorders involving the immune mechanism
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism
- Factors influencing health status and contact with health services
Similar with less cases:
None
Case counts by codes
↥
Summary Statistics
↥-FinRegistry-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | |||
| Whole population | 225 | 124 | 101 |
| Only index persons | 156 | 85 | 71 |
| Unadjusted period prevalence (%) | |||
| Whole population | 0.00 | 0.00 | 0.00 |
| Only index persons | 0.00 | 0.00 | 0.00 |
| Median age at first event (years) | |||
| Whole population | - | 14.39 | 9.08 |
| Only index persons | 15.18 | 17.16 | 12.80 |
-FinnGen-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | 22 | 12 | 10 |
| Unadjusted period prevalence (%) | 0.00 | 0.00 | 0.00 |
| Median age at first event (years) | 8.75 | 12.76 | 3.94 |
-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
No data
-FinnGen-
Cumulative Incidence Function
Not a core endpoint, no data to show.
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.
No data available
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
9
8
17.83
5.93
3.9
1.4
—
—
—
0
0
(1175426) CD3 cells/100 lymphocytes in Blood
9
8
17.83
5.93
3.8
1.4
%
55.8
64.3
—
9
8
(3013924) Clostridium tetani IgG Ab [Units/volume] in Serum
5
0
+∞
5.40
1.0
0.0
—
—
—
0
0
(21494815) CD4 cells/100 lymphocytes in Specimen
8
8
14.76
4.99
3.6
2.3
—
—
—
0
0
(3006245) CD3-CD19+ cells/100 cells in Blood
8
8
14.76
4.99
3.8
1.4
%
24.5
15.3
—
8
8
(3007449) CD3+CD8+ (T8 suppressor) cells/100 cells in Blood
8
8
14.76
4.99
3.7
1.4
%
16.5
24.0
—
8
8
(3012095) Magnesium [Moles/volume] in Serum or Plasma
10
26
6.22
4.04
6.6
15.3
mmol/l
0.8
0.8
—
10
26
(3027273) Bicarbonate [Moles/volume] in Venous blood
6
12
6.41
2.59
3.5
8.2
mmol/l
26.2
24.2
—
6
12
(3042936) Bacteria identified in Isolate by Culture
8
24
4.62
2.48
2.6
2.0
—
—
—
0
0
(3004529) Oxygen [Partial pressure] adjusted to patient's actual temperature in Venous blood
5
11
5.52
2.06
3.2
9.0
%
61.1
53.4
—
5
11
(3000494) Fungus identified in Specimen by Culture
6
18
4.17
1.89
1.8
1.6
—
—
—
0
0
(3004119) Hemoglobin [Mass/volume] in Venous blood
6
18
4.17
1.89
3.3
25.8
g/l
137.7
120.9
—
6
18
(3012544) pH of Venous blood
11
53
3.15
1.75
4.8
16.7
—
—
—
0
0
(3001604) Monocytes [#/volume] in Blood
17
119
2.87
1.37
16.9
13.8
e9/l
0.5
0.6
1.08
17
91
(3019198) Lymphocytes [#/volume] in Blood
17
119
2.87
1.37
17.0
13.8
e9/l
1.7
2.5
1.93
17
98
(3006315) Basophils [#/volume] in Blood
17
120
2.82
1.35
16.9
13.7
e9/l
0.0
0.0
0.36
17
92
(3016293) Bicarbonate [Moles/volume] in Serum or Plasma
10
52
2.69
1.32
8.1
22.6
mmol/l
26.1
24.7
—
10
52
(3024889) Methemoglobin/Hemoglobin.total in Venous blood
5
19
3.09
1.29
2.4
25.7
%
0.6
0.7
—
5
19
(3010517) Carboxyhemoglobin/Hemoglobin.total in Venous blood
5
19
3.09
1.29
2.4
25.7
%
0.8
1.2
—
5
19
(3004490) Bicarbonate [Moles/volume] standard in Capillary blood
9
45
2.68
1.26
8.3
10.3
mmol/l
25.4
24.1
—
9
45
(3000991) Gas panel - Venous blood
9
49
2.41
1.18
7.4
16.0
—
—
—
0
0
(3013115) Eosinophils [#/volume] in Blood
17
123
2.67
1.16
18.6
14.6
e9/l
0.3
0.2
0.43
17
100
(3000515) Antithrombin actual/normal in Platelet poor plasma by Chromogenic method
5
21
2.77
1.15
5.2
13.6
%
74.6
87.9
—
5
21
(3013512) EKG study
6
28
2.56
1.01
4.5
4.5
—
—
—
0
0
(43054903) Holo-transcobalamin II [Moles/volume] in Serum
10
58
2.33
1.01
1.7
1.7
pmol/l
102.4
89.0
—
5
28
(3013650) Neutrophils [#/volume] in Blood by Automated count
17
127
2.48
0.96
20.5
15.5
e9/l
3.6
3.9
0.15
17
101
(3008486) Thyroxine (T4) free [Moles/volume] in Serum or Plasma
17
128
2.44
0.96
4.4
3.6
pmol/l
15.0
14.3
0.64
17
117
(3007853) Bacteria identified in Skin by Aerobe culture
6
30
2.36
0.95
4.3
1.7
—
—
—
0
0
(3021960) Folate [Moles/volume] in Serum or Plasma
6
30
2.36
0.95
2.5
1.5
nmol/l
23.1
19.2
—
6
21
(706163) SARS-CoV-2 (COVID-19) RNA [Presence] in Respiratory system specimen by NAA with probe detection
11
152
0.45
0.94
3.5
4.1
—
—
—
0
0
(3022313) Gas panel - Capillary blood
8
47
2.10
0.94
10.0
9.3
—
—
—
0
0
(3021337) Troponin I.cardiac [Mass/volume] in Serum or Plasma
6
31
2.28
0.93
4.5
4.9
ng/l
1104.3
334.3
—
6
24
(40760892) CBC W Ordered Manual Differential panel - Blood
6
31
2.28
0.93
4.0
9.0
—
—
—
0
0
(3014576) Chloride [Moles/volume] in Serum or Plasma
6
32
2.19
0.89
7.2
19.1
mmol/l
106.2
104.5
—
6
32
(3048929) Epstein Barr virus Ab [Presence] in Serum
0
24
0.00
0.85
0.0
1.8
—
—
—
0
0
(3029287) Urinalysis microscopic panel [#/volume] - Urine by Automated count
10
62
2.12
0.83
3.0
5.7
—
—
—
0
0
(3038288) Influenza virus B RNA [Presence] in Specimen by NAA with probe detection
5
24
2.39
0.80
2.4
2.1
—
—
—
0
0
(3022250) Lactate dehydrogenase [Enzymatic activity/volume] in Serum or Plasma by Lactate to pyruvate reaction
5
24
2.39
0.80
4.0
8.1
u/l
296.4
261.0
—
5
24
(3043924) Respiratory syncytial virus RNA [Identifier] in Specimen by NAA with probe detection
5
27
2.09
0.73
2.2
1.9
—
—
—
0
0
(3044640) Blood type and Crossmatch panel - Blood
10
65
1.99
0.71
2.8
3.2
—
—
—
0
0
(46236098) ABO and Rh group [Type] in Blood by Confirmatory method
8
53
1.80
0.68
2.9
3.5
—
—
—
0
0
(36304419) Bacteria [Presence] in Urine
9
59
1.88
0.67
3.2
4.4
—
—
—
0
0
(3000850) Epithelial cells [#/volume] in Urine
6
35
1.98
0.64
3.5
3.8
e6/l
7.9
4.7
—
6
27
(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
0
19
0.00
0.64
0.0
1.6
—
—
—
0
0
(3010726) Horse dander IgE Ab [Units/volume] in Serum
0
19
0.00
0.64
0.0
1.3
—
11.8
—
0
6
(3006504) Eosinophils/100 leukocytes in Blood
15
118
1.85
0.58
19.9
13.2
%
3.2
3.3
0.07
15
108
(3022096) Basophils/100 leukocytes in Blood
15
118
1.85
0.58
20.6
13.1
%
0.3
0.6
1.71
15
108
(3019069) Monocytes/100 leukocytes in Blood
15
119
1.81
0.58
20.5
13.2
%
8.7
8.6
0.06
15
110
(3018010) Neutrophils/100 leukocytes in Blood
15
119
1.81
0.58
19.2
13.1
%
55.9
50.1
0.79
15
109
(42870588) Differential panel, method unspecified - Blood
13
99
1.76
0.58
18.4
14.8
—
—
—
0
0
(3002030) Lymphocytes/100 leukocytes in Blood
15
121
1.75
0.57
20.7
13.0
%
28.4
35.0
1.31
15
113
(3007628) Bicarbonate [Moles/volume] standard in Venous blood
7
46
1.76
0.56
4.4
16.4
mmol/l
23.6
23.6
—
7
46
(3023368) Bacteria identified in Blood by Culture
7
47
1.71
0.55
5.9
4.2
—
—
—
0
0
(3013826) Glucose [Moles/volume] in Serum or Plasma
14
113
1.65
0.43
8.6
13.5
mmol/l
6.4
6.1
0.31
14
107
(40768797) Stomach Pathology biopsy report
0
16
0.00
0.43
0.0
1.4
—
—
—
0
0
(3044938) Influenza virus A RNA [Presence] in Specimen by NAA with probe detection
5
35
1.55
0.42
2.6
2.0
—
—
—
0
0
(3007080) Epstein Barr virus nuclear IgG Ab [Units/volume] in Serum
0
18
0.00
0.42
0.0
1.9
—
138.1
—
0
10
(3007844) Epstein Barr virus capsid IgM Ab [Units/volume] in Serum by Immunoassay
0
18
0.00
0.42
0.0
1.9
—
—
—
0
0
(3002256) Pathology report gross observation
0
18
0.00
0.42
0.0
1.2
—
—
—
0
0
(3009201) Thyrotropin [Units/volume] in Serum or Plasma
17
149
1.62
0.33
5.5
4.2
mu/l
2.3
2.0
0.62
17
136
(40758558) Short blood count panel - Blood
10
78
1.52
0.31
22.8
8.4
—
—
—
0
0
(3026008) Bacteria identified in Urine by Culture
5
38
1.41
0.25
3.6
5.1
—
—
—
0
0
(3000924) Streptococcus pyogenes [Presence] in Throat by Organism specific culture
0
11
0.00
0.22
0.0
1.8
—
—
—
0
0
(3005785) Creatine kinase.MB [Mass/volume] in Serum or Plasma
0
11
0.00
0.22
0.0
4.8
—
6.8
—
0
11
(3044254) Respiratory syncytial virus RNA [Presence] in Specimen by NAA with probe detection
0
10
0.00
0.22
0.0
1.6
—
—
—
0
0
(3050129) First trimester maternal screen panel - Serum or Plasma
0
10
0.00
0.22
0.0
1.4
—
—
—
0
0
(3010521) Mycoplasma pneumoniae IgM Ab [Presence] in Serum by Immunoassay
0
10
0.00
0.22
0.0
1.1
—
—
—
0
0
(46235759) Influenza virus B RNA [Presence] in Nasopharynx by NAA with probe detection
0
10
0.00
0.22
0.0
1.6
—
—
—
0
0
(40761535) Cells panel - Urine sediment
0
10
0.00
0.22
0.0
8.0
—
—
—
0
0
(3027944) Amphetamines [Presence] in Urine
0
10
0.00
0.22
0.0
1.1
—
—
—
0
0
(3016018) Differential panel - Cerebral spinal fluid
0
10
0.00
0.22
0.0
8.3
—
—
—
0
0
(3016879) Cocaine [Presence] in Urine
0
10
0.00
0.22
0.0
1.1
—
—
—
0
0
(3027008) Opiates [Presence] in Urine
0
10
0.00
0.22
0.0
1.1
—
—
—
0
0
(3000764) Benzodiazepines [Presence] in Urine
0
10
0.00
0.22
0.0
1.1
—
—
—
0
0
(3028300) Cannabinoids [Presence] in Urine
0
10
0.00
0.22
0.0
1.1
—
—
—
0
0
(3044290) Cell count panel - Cerebral spinal fluid
0
10
0.00
0.22
0.0
8.7
—
—
—
0
0
(3019473) Protein [Mass/volume] in Cerebral spinal fluid
0
10
0.00
0.22
0.0
8.7
—
234.9
—
0
10
(3035637) Corticotropin [Mass/volume] in Plasma
0
12
0.00
0.22
0.0
2.1
—
—
—
0
0
(21492711) Cytomegalovirus IgG Ab avidity [Presence] in Serum or Plasma by Immunoassay
0
12
0.00
0.22
0.0
1.1
—
—
—
0
0
(43054914) Glucose tolerance 2 hours panel - Serum or Plasma
0
12
0.00
0.22
0.0
2.8
—
—
—
0
0
(3023183) Ammonium ion [Moles/volume] in Plasma
0
13
0.00
0.21
0.0
4.8
—
41.8
—
0
13
(3021584) Pregnancy associated plasma protein A [Units/volume] in Serum or Plasma
0
14
0.00
0.21
0.0
1.6
—
—
—
0
0
(3015736) pH of Urine
5
64
0.72
0.20
5.2
5.0
—
—
—
0
0
(3001079) Blood group antibody screen [Presence] in Serum or Plasma
9
75
1.34
0.19
3.3
4.4
—
—
—
0
0
(40768804) Tissue Pathology biopsy report
6
54
1.15
0.10
1.2
1.9
—
—
—
0
0
(3037467) Urinalysis macro (dipstick) panel - Urine
12
116
1.08
0.00
3.6
4.6
—
—
—
0
0
(40765161) Human bocavirus DNA [Presence] in Specimen by NAA with probe detection
0
7
0.00
0.00
0.0
1.9
—
—
—
0
0
(3005033) Fetal Nuchal fold Thickness US
0
7
0.00
0.00
0.0
1.7
—
—
—
0
0
(4034850)
0
7
0.00
0.00
0.0
8.0
—
—
—
0
0
(3047352) Trisomy 18 risk [Likelihood] in Fetus
0
7
0.00
0.00
0.0
1.7
—
—
—
0
0
(3043238) Trisomy 21 risk [Likelihood] in Fetus
0
7
0.00
0.00
0.0
1.9
—
—
—
0
0
(3011985) Renin [Units/volume] in Plasma
0
5
0.00
0.00
0.0
1.2
—
1686.0
—
0
5
(3044889) 12 lead EKG panel
9
87
1.06
0.00
4.9
2.8
—
—
—
0
0
(36032419) SARS-CoV-2 (COVID-19) Ag [Presence] in Upper respiratory specimen by Immunoassay
0
5
0.00
0.00
0.0
1.4
—
—
—
0
0
(3020874) Milk IgE Ab [Units/volume] in Serum
0
5
0.00
0.00
0.0
2.2
—
9.4
—
0
5
(3038546) Human coronavirus OC43 RNA [Presence] in Specimen by NAA with probe detection
0
5
0.00
0.00
0.0
1.0
—
—
—
0
0
(3017115) Methotrexate [Moles/volume] in Serum or Plasma
0
5
0.00
0.00
0.0
20.8
—
0.8
—
0
5
(3019145) Choriogonadotropin.beta subunit free [Mass/volume] in Serum or Plasma
0
9
0.00
0.00
0.0
2.0
—
—
—
0
0
(3027231) Wheat IgE Ab [Units/volume] in Serum
0
5
0.00
0.00
0.0
1.4
—
—
—
0
0
(3003191) Choriogonadotropin (pregnancy test) [Presence] in Serum or Plasma
0
5
0.00
0.00
0.0
1.6
—
—
—
0
0
(3013707) Erythrocyte sedimentation rate by Westergren method
13
127
1.06
0.00
9.9
5.8
mm/h
19.0
12.1
0.51
13
117
(3040359) Human coronavirus NL63 RNA [Presence] in Specimen by NAA with probe detection
0
5
0.00
0.00
0.0
1.0
—
—
—
0
0
(3023410) Appearance of Cerebral spinal fluid
0
9
0.00
0.00
0.0
9.2
—
—
—
0
0
(3024135) Streptococcus.beta-hemolytic [Presence] in Throat by Organism specific culture
6
60
1.00
0.00
1.3
2.3
—
—
—
0
0
(3020044) Glucose [Moles/volume] in Cerebral spinal fluid
0
9
0.00
0.00
0.0
9.6
—
3.6
—
0
9
(3043409) Potassium [Moles/volume] in Arterial blood
0
5
0.00
0.00
0.0
8.4
—
3.9
—
0
5
(3003181) Sodium [Moles/volume] in Urine
0
5
0.00
0.00
0.0
2.2
—
89.6
—
0
5
(1002102) Choriogonadotropin.intact+Beta subunit [Mass/volume] in Serum or Plasma
0
5
0.00
0.00
0.0
1.0
—
—
—
0
0
(3011288) Drugs identified in Urine by Screen method
0
5
0.00
0.00
0.0
1.8
—
—
—
0
0
(3013139) Helicobacter pylori Ag [Presence] in Stool
0
9
0.00
0.00
0.0
1.3
—
—
—
0
0
(3042111) Morphology [Interpretation] in Bone marrow Narrative
0
5
0.00
0.00
0.0
5.2
—
—
—
0
0
(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
(3045462) Protein/Creatinine [Ratio] in Urine
0
5
0.00
0.00
0.0
4.8
—
51.3
—
0
5
(3017895) Helicobacter pylori Ab [Units/volume] in Serum
0
5
0.00
0.00
0.0
1.4
—
—
—
0
0
(3020148) Glutamate decarboxylase 65 Ab [Units/volume] in Serum
0
5
0.00
0.00
0.0
1.4
—
—
—
0
0
(3041642) Human coronavirus 229E RNA [Presence] in Specimen by NAA with probe detection
0
5
0.00
0.00
0.0
1.0
—
—
—
0
0
(3032352) Blasts [#/volume] in Cerebral spinal fluid
0
5
0.00
0.00
0.0
5.8
—
—
—
0
0
(3005715) Vancomycin [Mass/volume] in Serum or Plasma
0
5
0.00
0.00
0.0
6.6
—
9.7
—
0
5
(3015916) Alpha-1-Fetoprotein [Units/volume] in Serum or Plasma
0
5
0.00
0.00
0.0
2.4
—
74.1
—
0
5
(3042596) Human coronavirus RNA [Presence] in Specimen by NAA with probe detection
0
5
0.00
0.00
0.0
2.2
—
—
—
0
0
(3023421) Hepatitis B virus surface Ab [Units/volume] in Serum
0
5
0.00
0.00
0.0
1.2
—
—
—
0
0
(46235831) Pregnancy associated plasma protein A [Multiple of the median] adjusted in Serum or Plasma
0
8
0.00
-0.00
0.0
1.9
—
—
—
0
0
(3019060) Gas panel - Arterial blood
0
6
0.00
-0.00
0.0
7.7
—
—
—
0
0
(3012494) Peanut IgE Ab [Units/volume] in Serum
0
6
0.00
-0.00
0.0
1.3
—
5.6
—
0
6
(40763531) Fetal Nuchal fold [Multiple of the median] Thickness adjusted for maternal weight
0
8
0.00
-0.00
0.0
1.9
—
—
—
0
0
(3035933) Granulocytes/100 leukocytes in Blood
0
6
0.00
-0.00
0.0
1.3
—
—
—
0
0
(3002434) Lupus erythematosus deoxynucleoproteins IgG Ab [Units/volume] in Serum by Immunoassay
0
8
0.00
-0.00
0.0
1.3
—
—
—
0
0
(3023709) Somatotropin [Mass/volume] in Serum or Plasma
0
6
0.00
-0.00
0.0
6.2
—
4.8
—
0
6
(3000208) Alpha tocopherol [Moles/volume] in Serum or Plasma
0
6
0.00
-0.00
0.0
1.8
—
33.0
—
0
6
(3049717) Cytology report of Urine Cyto stain
0
6
0.00
-0.00
0.0
1.7
—
—
—
0
0
(1001926) Buprenorphine [Presence] in Urine by Screen method
0
8
0.00
-0.00
0.0
1.1
—
—
—
0
0
(3014599) Egg white IgE Ab [Units/volume] in Serum
0
6
0.00
-0.00
0.0
1.5
—
1.7
—
0
6
(3008714) Choriogonadotropin [Multiple of the median] adjusted in Serum or Plasma
0
8
0.00
-0.00
0.0
1.9
—
—
—
0
0
(3001019) Free T4 and TSH panel - Serum or Plasma
0
6
0.00
-0.00
0.0
1.2
—
—
—
0
0
(3008757) Leukocyte morphology finding [Identifier] in Blood
0
8
0.00
-0.00
0.0
3.3
—
—
—
0
0
(3020321) Streptococcus agalactiae [Presence] in Vaginal fluid by Organism specific culture
0
6
0.00
-0.00
0.0
1.2
—
—
—
0
0
(3008909) Norovirus RNA [Presence] in Stool by NAA with probe detection
0
6
0.00
-0.00
0.0
1.5
—
—
—
0
0
(21494755) Public health laboratory ask at order entry panel
0
6
0.00
-0.00
0.0
1.5
—
—
—
0
0
(3016244) Insulin [Units/volume] in Serum or Plasma
0
6
0.00
-0.00
0.0
3.8
—
14.9
—
0
6
(3049207) Fetal Trisomy 21 risk [Likelihood] Based on maternal age
0
8
0.00
-0.00
0.0
1.9
—
—
—
0
0
Mortality – FinRegistry
↥Association
Association between endpoint D3_DIGEORGE and mortality.
Females
No dataMales
No dataMortality risk
Mortality risk for people of age
years, who have D3_DIGEORGE.| N-year risk | Females | Males |
|---|---|---|
| 1 | No data | No data |
| 5 | No data | No data |
| 10 | No data | No data |
| 15 | No data | No data |
| 20 | No data | No data |
Relationships between endpoints
↥Index endpoint: D3_DIGEORGE – Digeorge syndrome
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