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
cases
controls
unit
-log10(p)
N cases
N controls
9
8
17.83
5.93
3.9
1.4
—
—
—
0
0
8
8
14.76
4.99
3.7
1.4
16.5
24.0
%
—
8
8
10
26
6.22
4.04
6.6
15.3
0.8
0.8
mmol/l
—
10
26
5
11
5.52
2.06
3.2
9.0
61.1
53.4
%
—
5
11
10
52
2.69
1.32
8.1
22.6
26.1
24.7
mmol/l
—
10
52
5
19
3.09
1.29
2.4
25.7
0.8
1.2
%
—
5
19
9
45
2.68
1.26
8.3
10.3
25.4
24.1
mmol/l
—
9
45
5
21
2.77
1.15
5.2
13.6
74.6
87.9
%
—
5
21
10
58
2.33
1.01
1.7
1.7
102.4
89.0
pmol/l
—
5
28
17
127
2.48
0.96
20.5
15.5
3.6
3.9
e9/l
0.15
17
101
17
128
2.44
0.96
4.4
3.6
15.0
14.3
pmol/l
0.64
17
117
11
152
0.45
0.94
3.5
4.1
—
—
—
0
0
6
31
2.28
0.93
4.5
4.9
1104.3
334.3
ng/l
—
6
24
6
32
2.19
0.89
7.2
19.1
106.2
104.5
mmol/l
—
6
32
10
62
2.12
0.83
3.0
5.7
—
—
—
0
0
5
24
2.39
0.80
2.4
2.1
—
—
—
0
0
5
24
2.39
0.80
4.0
8.1
296.4
261.0
u/l
—
5
24
5
27
2.09
0.73
2.2
1.9
—
—
—
0
0
0
19
0.00
0.64
0.0
1.6
—
—
—
0
0
7
46
1.76
0.56
4.4
16.4
23.6
23.6
mmol/l
—
7
46
14
113
1.65
0.43
8.6
13.5
6.4
6.1
mmol/l
0.31
14
107
5
35
1.55
0.42
2.6
2.0
—
—
—
0
0
0
18
0.00
0.42
0.0
1.9
—
138.1
—
0
10
0
18
0.00
0.42
0.0
1.9
—
—
—
0
0
17
149
1.62
0.33
5.5
4.2
2.3
2.0
mu/l
0.62
17
136
0
11
0.00
0.22
0.0
1.8
—
—
—
0
0
0
10
0.00
0.22
0.0
1.6
—
—
—
0
0
0
10
0.00
0.22
0.0
1.1
—
—
—
0
0
0
10
0.00
0.22
0.0
1.6
—
—
—
0
0
0
12
0.00
0.22
0.0
1.1
—
—
—
0
0
0
14
0.00
0.21
0.0
1.6
—
—
—
0
0
9
75
1.34
0.19
3.3
4.4
—
—
—
0
0
0
7
0.00
0.00
0.0
1.9
—
—
—
0
0
0
5
0.00
0.00
0.0
1.4
—
—
—
0
0
0
5
0.00
0.00
0.0
1.0
—
—
—
0
0
0
9
0.00
0.00
0.0
2.0
—
—
—
0
0
0
5
0.00
0.00
0.0
1.6
—
—
—
0
0
13
127
1.06
0.00
9.9
5.8
19.0
12.1
mm/h
0.51
13
117
0
5
0.00
0.00
0.0
1.0
—
—
—
0
0
6
60
1.00
0.00
1.3
2.3
—
—
—
0
0
0
5
0.00
0.00
0.0
1.0
—
—
—
0
0
0
5
0.00
0.00
0.0
3.2
—
—
—
0
0
0
5
0.00
0.00
0.0
1.0
—
—
—
0
0
0
5
0.00
0.00
0.0
2.2
—
—
—
0
0
0
8
0.00
-0.00
0.0
1.9
—
—
—
0
0
0
8
0.00
-0.00
0.0
1.9
—
—
—
0
0
0
8
0.00
-0.00
0.0
1.3
—
—
—
0
0
0
8
0.00
-0.00
0.0
1.9
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.2
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.5
—
—
—
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]
rg [CI]
Hits
Coloc Hits
FinRegistry
FinnGen
FinRegistry
FinnGen
FinnGen
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