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. |
- |
4. Check minimum number of eventsNone |
- |
5. Include endpoints |
397 |
6. Filter based on genotype QC (FinnGen only) |
397 |
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
- Deficientiae immunales mixtae
Similar endpoints
↥List of similar endpoints to
Combined immunodeficiencies
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 operation in hilmo
- 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 | 3113 | 1722 | 1368 |
| Only index persons | 2640 | 1511 | 1129 |
| Unadjusted period prevalence (%) | |||
| Whole population | 0.04 | 0.05 | 0.04 |
| Only index persons | 0.05 | 0.06 | 0.04 |
| Median age at first event (years) | |||
| Whole population | 56.62 | 54.81 | 58.78 |
| Only index persons | 54.63 | 53.01 | 56.80 |
-FinnGen-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | 397 | 242 | 155 |
| Unadjusted period prevalence (%) | 0.08 | 0.08 | 0.07 |
| Median age at first event (years) | 54.01 | 49.17 | 61.56 |
-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
- 365
- Matched controls
- 3650
Code
Vocabulary
Description
Odds Ratio
-log10(p)
N matched cases
N matched controls
D81.4
ICD-10 Finland
Nezelof syndrome
+∞
161.8
143
*
D81.0
ICD-10 Finland
Severe combined immunodeficiency [SCID] with reticular dysgenesis
+∞
107.8
98
*
T81.4
ICD-10 Finland
Infection following a procedure, not elsewhere classified
11.8
69.0
141
184
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
10.9
53.6
111
140
D81.8
ICD-10 Finland
Other combined immunodeficiencies
+∞
49.1
46
*
ZXD05
NOMESCO Finland
Urgent procedure
4.2
35.0
186
723
D81.9
ICD-10 Finland
Combined immunodeficiency, unspecified
+∞
32.8
31
*
T81.0
ICD-10 Finland
Haemorrhage and haematoma complicating a procedure, not elsewhere classified
6.6
24.3
66
118
D81.2
ICD-10 Finland
Severe combined immunodeficiency [SCID] with low or normal B-cell numbers
+∞
20.0
19
*
D80.1
ICD-10 Finland
Nonfamilial hypogammaglobulinaemia
+∞
20.0
19
*
GD1UA
NOMESCO Finland
Thorax X-ray examination outside radiological department
3.9
19.5
89
277
D81.1
ICD-10 Finland
Severe combined immunodeficiency [SCID] with low T- and B-cell numbers
+∞
18.9
18
*
ZXE20
NOMESCO Finland
More than three and less than five hours
3.8
18.9
89
284
N02AX02
ATC
tramadol; systemic, rectal
2.7
18.7
195
1077
ZXE10
NOMESCO Finland
More than one and less than three hours
2.7
18.3
178
939
WX408
NOMESCO Finland
General anesthesy, balanced
2.9
17.9
137
619
GD1AA
NOMESCO Finland
Thorax X-ray examination
2.6
17.4
192
1080
UJD10
NOMESCO Finland
Esophagoscopy, gastroscopy and duodenoscopy
2.8
17.2
145
694
120
Kela drug reimbursment
Hypogammaglobulinaemia
+∞
16.8
16
*
JN3AE
NOMESCO Finland
Abdominal ultrasound examination
3.6
15.7
79
263
J01MA12
ATC
levofloxacin; systemic
3.2
15.5
96
371
Z3226
NOMESCO Finland
Physiotherapist
3.1
15.3
99
396
C03CA01
ATC
furosemide; systemic
2.6
15.2
144
725
TPH15
NOMESCO Finland
Insertion of central venous catheter through external or internal jugular vein
5.2
15.1
48
103
J01FF01
ATC
clindamycin; systemic
2.7
14.9
127
601
P01AB01
ATC
metronidazole; oral, rectal
2.4
13.9
173
998
J01DA01
ATC
[U] cefalexin; systemic
2.4
13.4
250
1746
WX404
NOMESCO Finland
Intravenous generell anesthesy
2.7
13.3
103
457
T81.8
ICD-10 Finland
Other complications of procedures, not elsewhere classified
10.6
13.2
25
25
QDB10
NOMESCO Finland
Major dressing of wound of skin of lower limb
5.8
13.0
37
70
WX700
NOMESCO Finland
Respiratory and circulatory monitoring
3.0
12.9
84
333
J06BA01
ATC
immunoglobulins, normal human, for extravascular adm.; systemic
+∞
12.6
12
*
JN3BD
NOMESCO Finland
Extensive abdominal CT
3.5
12.2
61
200
Z01.8
ICD-10 Finland
Other specified special examinations
2.6
12.2
101
462
D80.9
ICD-10 Finland
Immunodeficiency with predominantly antibody defects, unspecified
+∞
11.5
11
*
D81.3
ICD-10 Finland
Adenosine deaminase [ADA] deficiency
+∞
11.5
11
*
D80.3
ICD-10 Finland
Selective deficiency of immunoglobulin G [IgG] subclasses
+∞
11.5
11
*
R50.9
ICD-10 Finland
Fever, unspecified
3.0
11.2
70
267
NA3AA
NOMESCO Finland
Lumbar spine X-ray examination without contrast
3.4
11.1
55
179
J01MA02
ATC
ciprofloxacin; systemic
2.2
11.1
161
969
TPH04
NOMESCO Finland
Cathetrisation of vein
2.5
11.0
96
448
R4110
NOMESCO Finland
Physiotherapy
2.3
10.5
118
627
JA3AT
NOMESCO Finland
Cathetrisation of abdominal cavity with ultrasound guidance
12.5
10.5
18
15
LWE00
NOMESCO Finland
Reoperation for deep haemorrhage in gynaecological surgery
33.6
10.4
13
*
A41.0
ICD-10 Finland
Sepsis due to Staphylococcus aureus
10.5
10.1
19
19
JN3AA
NOMESCO Finland
Abdominal X-ray examination without contrast
4.6
10.1
35
83
ZXD10
NOMESCO Finland
Scheduled procedure
2.1
10.0
162
1006
WX002
NOMESCO Finland
Sedation and analgesia
2.5
9.8
86
402
NK6QA
NOMESCO Finland
Measurement of bone density from tow or more locations with X-ray
3.9
9.8
40
111
Z3231
NOMESCO Finland
Registered nurse
2.2
9.7
118
645
T81.3
ICD-10 Finland
Disruption of operation wound, not elsewhere classified
6.7
9.7
24
38
R10.4
ICD-10 Finland
Other and unspecified abdominal pain
2.1
9.6
141
837
N02AA59
ATC
codeine, combinations excl. psycholeptics; systemic
2.0
9.5
186
1240
X59
ICD-10 Finland
Exposure to unspecified factor
2.4
9.4
85
404
A49.9
ICD-10 Finland
Bacterial infection, unspecified
3.0
9.3
56
207
GD1PA
NOMESCO Finland
X-ray examination of the lungs in one projection
3.3
9.2
46
151
H02AB06
ATC
prednisolone; systemic
2.0
9.2
180
1198
A09
ICD-10 Finland
Other gastroenteritis and colitis of infectious and unspecified origin
2.5
9.1
76
344
JN3AD
NOMESCO Finland
Abdominal CT examination
3.5
9.1
42
130
ZXA00
NOMESCO Finland
Right side
2.1
9.0
120
679
UJF32
NOMESCO Finland
Coloscopy
2.2
8.8
109
599
A12AX
ATC
Calcium, combinations with vitamin D and/or other drugs
2.1
8.8
133
795
TPH20
NOMESCO Finland
Insertion of central venous catheter through subclavian or brachiocephalic vein
6.3
8.6
22
37
J18.9
ICD-10 Finland
Pneumonia, unspecified
2.2
8.5
100
535
L04AX01
ATC
azathioprine; systemic
4.5
8.4
29
69
ZXE30
NOMESCO Finland
More than five and less than seven hours
3.9
8.2
33
91
J01DB01
ATC
cefalexin; oral
2.1
8.0
299
2475
ZXA05
NOMESCO Finland
Left side
2.1
8.0
108
610
A46
ICD-10 Finland
Erysipelas
2.6
7.9
59
250
J10.1
ICD-10 Finland
Influenza with other respiratory manifestations, seasonal influenza virus identified
13.4
7.9
13
10
WZC00
NOMESCO Finland
Planning of intervention or health care consultation
2.0
7.9
131
803
Z2221
NOMESCO Finland
Medical doctor
2.0
7.9
114
662
SPAT1255
SPAT
Intravenous administration of medicine
3.9
7.9
31
84
Y83.9
ICD-10 Finland
Surgical procedure, unspecified as the cause of abnormal reaction of the patient, or of later complication, without mention of misadventure at the time of the procedure
5.8
7.8
21
38
A02BA02
ATC
ranitidine; systemic
2.2
7.8
86
447
JN1AE
NOMESCO Finland
Ultrasound examination of upper part of abdomen
3.1
7.8
43
150
Z2446
NOMESCO Finland
Social worker
3.5
7.7
35
107
DM1QA
NOMESCO Finland
Paranasal sinuses X-ray examination in one projection
4.5
7.7
26
61
UGC12
NOMESCO Finland
Flexible bronchoscopy
3.3
7.7
37
119
JAH00
NOMESCO Finland
Laparotomy
5.6
7.6
21
39
Y84
ICD-10 Finland
Other medical procedures as the cause of abnormal reaction of the patient, or of later complication, without mention of misadventure at the time of the procedure
10.3
7.6
14
14
GD1QA
NOMESCO Finland
Supine thorax X-ray examination
2.4
7.6
65
298
QX2XE
NOMESCO Finland
Ultrsound examination of soft tissue not elsewhere classified
4.7
7.4
24
54
I70.2
ICD-10 Finland
Atherosclerosis of arteries of extremities
2.9
7.4
46
175
JN4BD
NOMESCO Finland
Extensive body CT
2.7
7.3
50
202
UJF45
NOMESCO Finland
Flexible sigmoidoscopy with biopsy
3.1
7.3
41
145
Y88.3
ICD-10 Finland
Sequelae of surgical and medical procedures as the cause of abnormal reaction of the patient, or of later complication, without mention of misadventure at the time of the procedure
6.0
7.3
19
33
B01AA03
ATC
warfarin; systemic
2.2
7.3
84
443
UJF30
NOMESCO Finland
Ileoscopy through colon
2.8
7.2
45
172
FB1BD
NOMESCO Finland
Extensive CT examination of arteria pulmonalis
3.1
7.1
38
132
N03AX16
ATC
pregabalin; oral
2.1
7.1
97
547
PH2AE
NOMESCO Finland
Ultrasound examination of lower leg veins
2.7
7.1
49
200
NA2AA
NOMESCO Finland
Thoracal spine X-ray examination without contrast
6.5
7.0
17
27
A06AD11
ATC
lactulose; oral
2.3
7.0
66
316
B01AB05
ATC
enoxaparin; parenteral
2.0
7.0
114
689
ZXE00
NOMESCO Finland
One hour or less
1.8
7.0
149
993
GD1AD
NOMESCO Finland
Thorax CT examination
4.6
7.0
23
53
WZC10
NOMESCO Finland
Extensive specialist consultion with written report
3.6
6.8
29
85
XF400
NOMESCO Finland
ECG with 12 standard connections
2.2
6.6
70
353
N02AA05
ATC
oxycodone; systemic
2.3
6.6
64
311
A07AA02
ATC
nystatin; oral
3.4
6.6
31
98
J01CF02
ATC
cloxacillin; systemic
6.4
6.5
16
26
K59.09
ICD-10 Finland
Constipation, unspecified
3.2
6.5
33
111
X58
ICD-10 Finland
Exposure to other specified factors
2.4
6.5
54
245
I80.29
ICD-10 Finland
Phlebitis and thrombophlebitis of other deep vessels of lower extremities
5.1
6.4
19
39
WX110
NOMESCO Finland
Local anesthesy
1.8
6.4
244
1934
SPAT1083
SPAT
Initiation and monitoring of IV fluid therapy
4.3
6.4
22
53
GD1DD
NOMESCO Finland
High resolution CT examination of lungs
3.5
6.4
28
84
XPX99
NOMESCO Finland
Other diagnostic examination of periferal vessel
3.1
6.3
33
113
AA1AD
NOMESCO Finland
CT of head and brain
2.0
6.3
90
514
6BA02
NOMESCO Finland
NA
18.4
6.3
9
5
NHW10
NOMESCO Finland
Reoperation for deep infection in in surgery of ankle or foot
+∞
6.3
6
*
D81.6
ICD-10 Finland
Major histocompatibility complex class I deficiency
+∞
6.3
6
*
JAK03
NOMESCO Finland
Laparotomy and peritoneal irrigation
+∞
6.3
6
*
JAH33
NOMESCO Finland
Opening of laparostomy
+∞
6.3
6
*
M36.8*D80.1
ICD-10 Finland
Systemic disorders of connective tissue in hypogammaglobulinaemia
+∞
6.3
6
*
D80.0
ICD-10 Finland
Hereditary hypogammaglobulinaemia
+∞
6.3
6
*
QDA10
NOMESCO Finland
Incision of skin of lower limb
27.2
6.2
8
*
J01XX08
ATC
linezolid; systemic
27.2
6.2
8
*
ZX120
NOMESCO Finland
Intravenous
2.6
6.2
44
182
WX892
NOMESCO Finland
Monitored bed care
3.0
6.2
35
124
L28
ICPC
Limited function/disability (L)
2.2
6.2
63
312
JAH01
NOMESCO Finland
Laparoscopy
3.7
6.1
25
71
TDM10
NOMESCO Finland
Puncture of maxillary antrum
4.3
6.1
21
51
J04AB02
ATC
rifampicin; systemic
10.3
6.1
11
11
JN3CD
NOMESCO Finland
Abdominal CT examination both without and with contrast
4.7
6.1
19
42
R10.3
ICD-10 Finland
Pain localized to other parts of lower abdomen
2.0
6.0
81
451
SPAT1148
SPAT
Treatment of chronic ulcer or burn
2.3
6.0
55
258
Z71.3
ICD-10 Finland
Dietary counselling and surveillance
3.8
6.0
24
67
Mortality – FinRegistry
↥Association
Association between endpoint D3_COMBIMMUDEF and mortality.
Females
| Parameter | HR [95% CI] | p-value |
|---|---|---|
| D3_COMBIMMUDEF | 1.981 [1.72, 2.29] | < 0.001 |
| Birth year | 0.995 [0.99, 1.0] | 0.207 |
During the follow-up period (1.1.1998 — 31.12.2019), 454 out of 1489 females with D3_COMBIMMUDEF died.
Males
| Parameter | HR [95% CI] | p-value |
|---|---|---|
| D3_COMBIMMUDEF | 2.256 [1.92, 2.65] | < 0.001 |
| Birth year | 0.986 [0.98, 1.0] | 0.005 |
During the follow-up period (1.1.1998 — 31.12.2019), 516 out of 1183 males with D3_COMBIMMUDEF died.
Mortality risk
Mortality risk for people of age
years, who have D3_COMBIMMUDEF.| N-year risk | Females | Males |
|---|---|---|
| 1 | 0.171% | 0.394% |
| 5 | 1.141% | 2.075% |
| 10 | 2.912% | 5.699% |
| 15 | 5.574% | 11.202% |
| 20 | 9.77% | 18.871% |
Relationships between endpoints
↥Index endpoint: D3_COMBIMMUDEF – Combined immunodeficiencies
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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