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hereditary angioödema type 3

D3_ANGIOEDEMA_3

Endpoint definition

Endpoint definition steps

FinnGen

Phenotype data

520210

1. Apply sex-specific rule

None

520210

2. Check conditions

None

520210

3. Check pre-conditions, main-only, mode, registry filters

Registry filters:

  • Hospital discharge: ICD-10 D84.13
  • Cause of death: ICD-10 D84.13

2 out of 7 registries used, show all original rules.

29

4. Check minimum number of events

None

29

5. Include endpoints

None

29

6. Filter based on genotype QC (FinnGen only)

29

Control definitions (FinnGen only)

Control exclude
D3_IMMUNEMECHANISM

Extra metadata

First used in FinnGen datafreeze
DF12

Case counts by codes

FinnGen case counts by registry codes:

generic upset plot

Upset plot

Full data table

Summary Statistics

-FinRegistry-

This endpoint is excluded (different definition than used in FinnGen).

-FinnGen-

Key figures

All Female Male
Number of individuals 29 24 5
Unadjusted period prevalence (%) 0.01 0.01 0.00
Median age at first event (years) 44.39 42.58 53.06

-FinnGen-

Age distribution of first events

-FinnGen-

Year distribution of first events

-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
(3019902) Methicillin resistant Staphylococcus aureus [Presence] in Specimen by Organism specific culture
10
14
10.38
7.18
4.4
3.1
—
—
—
0
0
(3032080) INR in Blood by Coagulation assay
18
56
6.84
6.18
11.2
4.1
inr
1.1
1.0
—
10
19
(3023368) Bacteria identified in Blood by Culture
15
45
5.83
5.18
5.2
2.7
—
—
—
0
0
(40760892) CBC W Ordered Manual Differential panel - Blood
17
64
5.00
4.36
8.1
4.0
—
—
—
0
0
(3016431) Calcium.ionized [Moles/volume] adjusted to pH 7.4 in Serum or Plasma
19
86
4.51
3.69
3.5
7.0
mmol/l
1.2
1.2
0.47
14
77
(42870588) Differential panel, method unspecified - Blood
17
71
4.37
3.67
11.2
4.2
—
—
—
0
0
(3048816) Calcium.ionized [Moles/volume] adjusted to pH 7.4 in Blood
8
15
6.91
3.47
2.3
5.6
mmol/l
1.2
1.2
—
8
15
(3013826) Glucose [Moles/volume] in Serum or Plasma
22
121
4.37
3.20
5.1
3.8
mmol/l
6.2
6.7
0.69
22
107
(3018418) pH of Serum or Plasma
13
49
4.00
3.14
2.6
4.3
ph
7.4
7.4
—
6
10
(3020630) Protein [Mass/volume] in Serum or Plasma
6
9
8.04
3.02
2.5
1.7
g/l
71.3
68.7
—
6
9
(3029287) Urinalysis microscopic panel [#/volume] - Urine by Automated count
16
72
3.73
2.97
3.5
2.0
—
—
—
0
0
(3004588) Protein electrophoresis panel - Serum or Plasma
5
6
9.71
2.86
2.8
1.8
—
—
—
0
0
(3016293) Bicarbonate [Moles/volume] in Serum or Plasma
5
7
8.31
2.65
3.8
5.7
mmol/l
25.1
25.3
—
5
7
(40768443) Skin Pathology biopsy report
5
7
8.31
2.65
1.6
1.1
—
—
—
0
0
(3000515) Antithrombin actual/normal in Platelet poor plasma by Chromogenic method
5
7
8.31
2.65
1.6
1.7
%
96.6
109.0
—
5
7
(40768797) Stomach Pathology biopsy report
9
28
4.18
2.58
1.0
1.4
—
—
—
0
0
(36304419) Bacteria [Presence] in Urine
13
58
3.25
2.33
3.2
1.8
—
—
—
0
0
(3001604) Monocytes [#/volume] in Blood
21
127
3.36
2.26
11.5
4.7
e9/l
0.5
0.6
0.80
21
117
(3006315) Basophils [#/volume] in Blood
21
128
3.31
2.26
11.5
4.7
e9/l
0.0
0.0
0.80
21
118
(3019198) Lymphocytes [#/volume] in Blood
21
131
3.17
2.22
11.5
4.7
e9/l
2.0
2.0
0.21
21
124
(3013115) Eosinophils [#/volume] in Blood
21
132
3.13
2.20
11.9
5.2
e9/l
0.2
0.2
0.87
21
124
(3013512) EKG study
11
47
3.16
2.08
2.0
3.7
—
—
—
0
0
(3043924) Respiratory syncytial virus RNA [Identifier] in Specimen by NAA with probe detection
6
16
4.43
2.05
1.8
1.2
—
—
—
0
0
(3044938) Influenza virus A RNA [Presence] in Specimen by NAA with probe detection
8
30
3.28
1.90
2.0
1.4
—
—
—
0
0
(3038288) Influenza virus B RNA [Presence] in Specimen by NAA with probe detection
6
18
3.92
1.85
2.0
1.2
—
—
—
0
0
(40761536) Microorganisms panel - Urine sediment
6
18
3.92
1.85
6.2
2.7
—
—
—
0
0
(3026008) Bacteria identified in Urine by Culture
12
58
2.82
1.81
3.0
2.3
—
—
—
0
0
(3022096) Basophils/100 leukocytes in Blood
19
117
2.81
1.81
12.0
4.8
%
0.6
0.7
0.30
19
109
(4010399)
5
13
4.41
1.79
2.2
1.2
—
—
—
0
0
(3013650) Neutrophils [#/volume] in Blood by Automated count
22
150
2.92
1.75
13.4
9.8
e9/l
4.6
3.8
0.90
22
132
(46236098) ABO and Rh group [Type] in Blood by Confirmatory method
10
45
2.87
1.69
3.4
1.9
—
—
—
0
0
(3019225) pH of Specimen
5
14
4.08
1.69
1.8
8.4
—
—
—
0
0
(3001079) Blood group antibody screen [Presence] in Serum or Plasma
17
102
2.61
1.66
7.9
3.7
—
—
—
0
0
(3002256) Pathology report gross observation
7
27
3.08
1.63
1.1
1.1
—
—
—
0
0
(3006504) Eosinophils/100 leukocytes in Blood
19
121
2.65
1.63
12.1
4.8
%
2.3
2.8
0.36
19
114
(3019069) Monocytes/100 leukocytes in Blood
19
122
2.62
1.59
12.3
5.0
%
7.2
8.0
0.81
19
116
(3007853) Bacteria identified in Skin by Aerobe culture
6
22
3.16
1.52
5.5
1.2
—
—
—
0
0
(3015399) Transferrin receptor.soluble [Mass/volume] in Serum or Plasma
10
48
2.65
1.48
7.1
1.7
mg/l
3.5
3.0
—
10
42
(3002109) Cholesterol in LDL/Cholesterol in HDL [Mass Ratio] in Serum or Plasma
0
37
0.00
1.47
0.0
1.7
—
—
—
0
0
(3002030) Lymphocytes/100 leukocytes in Blood
19
125
2.51
1.47
12.2
4.8
%
28.8
30.0
0.20
19
120
(3013721) Aspartate aminotransferase [Enzymatic activity/volume] in Serum or Plasma
13
77
2.25
1.21
3.3
2.8
u/l
24.3
26.9
0.32
13
69
(3022250) Lactate dehydrogenase [Enzymatic activity/volume] in Serum or Plasma by Lactate to pyruvate reaction
5
20
2.80
1.20
2.8
4.3
u/l
238.4
230.2
—
5
20
(3018010) Neutrophils/100 leukocytes in Blood
18
123
2.22
1.18
11.6
4.7
%
58.4
56.6
0.30
18
118
(3033658) Prothrombin time (PT) actual/Normal
10
55
2.25
1.08
5.3
2.7
%
98.0
92.7
—
10
55
(3044491) Cholesterol non HDL [Mass/volume] in Serum or Plasma
0
29
0.00
1.04
0.0
1.5
—
—
—
0
0
(3044640) Blood type and Crossmatch panel - Blood
11
66
2.07
0.95
3.8
2.0
—
—
—
0
0
(3044889) 12 lead EKG panel
19
143
1.95
0.85
3.9
2.5
—
—
—
0
0
(43054914) Glucose tolerance 2 hours panel - Serum or Plasma
6
33
2.03
0.84
1.8
2.1
—
—
—
0
0
(3001784) Prostate Specific Ag Free/Prostate specific Ag.total in Serum or Plasma
0
25
0.00
0.83
0.0
3.6
—
15.2
—
0
8
(3003338) MCHC [Mass/volume]
19
229
0.51
0.81
36.9
12.2
g/l
330.5
332.8
0.27
19
229
(3029937) Albumin [Presence] in Urine by Test strip
10
62
1.94
0.77
4.9
3.0
estimate
0.0
0.0
—
5
24
(3022145) Colonoscopy Study observation
5
25
2.20
0.77
1.2
1.3
—
—
—
0
0
(3041096) Erythrocytes [Presence] in Urine by Automated
11
71
1.88
0.76
4.5
2.4
—
—
—
0
0
(3021601) Nitrite [Presence] in Urine by Test strip
16
118
1.79
0.72
5.5
3.9
estimate
0.0
0.0
—
5
24
(3011371) Neisseria gonorrhoeae DNA [Presence] in Specimen by NAA with probe detection
5
27
2.02
0.72
1.6
1.7
—
—
—
0
0
(3019309) Folate [Moles/volume] in Red Blood Cells
5
28
1.94
0.69
2.0
2.1
nmol/l
2165.2
1169.9
—
5
21
(3035350) Ketones [Presence] in Urine by Test strip
16
119
1.77
0.69
4.3
2.7
estimate
0.0
0.0
—
5
23
(3009261) Glucose [Presence] in Urine by Test strip
16
120
1.74
0.66
4.3
2.9
estimate
0.0
0.0
—
5
23
(40763086) Leukocyte esterase [Presence] in Urine by Automated test strip
13
92
1.75
0.66
4.8
2.8
—
—
—
0
0
(3006093) Chlamydia trachomatis DNA [Presence] in Specimen by NAA with probe detection
6
34
1.96
0.63
1.5
1.9
—
—
—
0
0
(40761511) CBC panel - Blood by Automated count
29
267
+∞
0.61
27.6
9.3
—
—
—
0
0
(3003510) Neisseria gonorrhoeae DNA [Presence] in Urine by NAA with probe detection
7
45
1.73
0.54
3.3
2.2
—
—
—
0
0
(3037467) Urinalysis macro (dipstick) panel - Urine
20
169
1.59
0.49
11.8
3.7
—
—
—
0
0
(43054903) Holo-transcobalamin II [Moles/volume] in Serum
11
80
1.60
0.47
2.9
2.0
pmol/l
99.1
94.3
—
6
45
(3019284) Hepatitis B virus surface Ag [Presence] in Serum
9
64
1.59
0.45
1.4
1.6
—
—
—
0
0
(3003694) ABO and Rh group [Type] in Blood
11
81
1.58
0.45
1.7
1.6
—
—
—
0
0
(40758558) Short blood count panel - Blood
9
69
1.44
0.43
8.4
6.1
—
—
—
0
0
(36032419) SARS-CoV-2 (COVID-19) Ag [Presence] in Upper respiratory specimen by Immunoassay
0
15
0.00
0.42
0.0
1.5
—
—
—
0
0
(3005013) Prostate Specific Ag Free [Mass/volume] in Serum or Plasma
0
17
0.00
0.42
0.0
2.0
—
0.4
—
0
11
(3017143) Hepatitis C virus Ab [Presence] in Serum
5
35
1.52
0.41
1.6
1.5
—
—
—
0
0
(3042936) Bacteria identified in Isolate by Culture
5
35
1.52
0.41
4.8
1.4
—
—
—
0
0
(3015736) pH of Urine
12
92
1.52
0.40
4.2
2.4
—
—
—
0
0
(3024950) Chlamydia trachomatis DNA [Presence] in Urine by NAA with probe detection
7
50
1.53
0.35
3.4
2.4
—
—
—
0
0
(3011397) Hemoglobin [Presence] in Urine by Test strip
7
53
1.42
0.34
2.7
2.8
—
—
—
0
0
(3019832) Treponema pallidum Ab [Presence] in Serum
7
53
1.42
0.34
1.4
1.6
—
—
—
0
0
(40768793) Breast Pathology biopsy report
0
11
0.00
0.22
0.0
1.1
—
—
—
0
0
(3045414) Leukocytes [Presence] in Urine
0
12
0.00
0.21
0.0
1.8
—
—
—
0
0
(3000330) Specific gravity of Urine by Test strip
0
13
0.00
0.21
0.0
3.2
—
—
—
0
0
(3022621) pH of Urine by Test strip
0
14
0.00
0.20
0.0
2.6
—
—
—
0
0
(3026493) Urate [Moles/volume] in Serum or Plasma
7
57
1.30
0.20
2.9
2.7
umol/l
311.0
302.3
—
7
52
(3048773) Triglyceride [Moles/volume] in Serum or Plasma --fasting
22
232
0.79
0.20
3.7
3.2
mmol/l
1.6
1.2
0.99
17
217
(706163) SARS-CoV-2 (COVID-19) RNA [Presence] in Respiratory system specimen by NAA with probe detection
21
222
0.80
0.19
5.3
3.7
—
—
—
0
0
(46235355) HIV 1 and 2 tests - Meaningful Use set
8
68
1.24
0.19
1.8
2.1
—
—
—
0
0
(3024135) Streptococcus.beta-hemolytic [Presence] in Throat by Organism specific culture
7
83
0.79
0.17
1.9
1.8
—
—
—
0
0
(40768804) Tissue Pathology biopsy report
12
105
1.24
0.14
3.0
1.8
—
—
—
0
0
(1761868) Lipid panel - Serum or Plasma
10
101
0.98
0.00
2.8
2.4
—
—
—
0
0
(3018006) Microscopic observation [Identifier] in Cervix by Cyto stain.thin prep
7
76
0.90
0.00
1.3
1.3
—
—
—
0
0
(3043405) Microscopic observation [Identifier] in Specimen by Non-gynecological cytology method
0
5
0.00
0.00
0.0
1.6
—
—
—
0
0
(37020937) Giardia lamblia DNA [Presence] in Stool by NAA with probe detection
0
5
0.00
0.00
0.0
1.0
—
—
—
0
0
(36033641) SARS-CoV-2 (COVID-19) Ag [Presence] in Upper respiratory specimen by Rapid immunoassay
0
5
0.00
0.00
0.0
1.6
—
—
—
0
0
(3015916) Alpha-1-Fetoprotein [Units/volume] in Serum or Plasma
0
6
0.00
0.00
0.0
2.2
—
2.3
—
0
6
(3008037) Lactate [Moles/volume] in Venous blood
0
5
0.00
0.00
0.0
3.4
—
1.7
—
0
5
(3024403) Complement+Immunoglobulin [Units/volume] in Red Blood Cells
0
7
0.00
0.00
0.0
2.3
—
—
—
0
0
(3038515) Glucose [Moles/volume] in Venous blood
0
5
0.00
0.00
0.0
3.4
—
9.0
—
0
5
(3010813) Leukocytes [#/volume] in Blood
29
281
+∞
0.00
40.5
15.3
e9/l
7.5
6.6
1.52
29
276
(36305771) Cryptosporidium sp DNA [Presence] in Stool by NAA with probe detection
0
5
0.00
0.00
0.0
1.0
—
—
—
0
0
(3005082) Progesterone [Moles/volume] in Serum or Plasma
0
5
0.00
0.00
0.0
1.0
—
33.3
—
0
5
(3042206) Streptococcus agalactiae Ag [Presence] in Vaginal fluid
0
6
0.00
0.00
0.0
1.2
—
—
—
0
0
(42529201) Cancer Ag 19-9 [Units/volume] in Serum or Plasma by Immunoassay
0
6
0.00
0.00
0.0
4.5
—
40.1
—
0
6
(3026285) Alpha 1 antitrypsin [Mass/volume] in Serum or Plasma
0
5
0.00
0.00
0.0
1.0
—
1.2
—
0
5
(3026361) Erythrocytes [#/volume] in Blood
29
281
+∞
0.00
40.3
15.2
e12/l
4.5
4.5
0.19
29
276
(3014051) Protein [Presence] in Urine by Test strip
0
7
0.00
0.00
0.0
2.0
—
—
—
0
0
(3006588) Cancer Ag 15-3 [Units/volume] in Serum or Plasma
0
8
0.00
-0.00
0.0
3.6
—
19.1
—
0
8
(3025130) Human papilloma virus identified in Specimen
0
8
0.00
-0.00
0.0
1.8
—
—
—
0
0
(3008909) Norovirus RNA [Presence] in Stool by NAA with probe detection
0
8
0.00
-0.00
0.0
1.0
—
—
—
0
0

Mortality – FinRegistry

This endpoint is excluded (different definition than used in FinnGen).

Relationships between endpoints

Index endpoint: D3_ANGIOEDEMA_3 – hereditary angioödema type 3

GWS hits: -

This endpoint is excluded (different definition than used in FinnGen).