info icon

Hereditary angioödema type 1

D3_ANGIOEDEMA_1

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 D84.11
  • Cause of death: ICD-10 D84.11

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

36

4. Check minimum number of events

None

36

5. Include endpoints

None

36

6. Filter based on genotype QC (FinnGen only)

36

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 36 27 9
Unadjusted period prevalence (%) 0.01 0.01 0.00
Median age at first event (years) 55.51 54.69 57.98

-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
(3000620) Complement C3 [Mass/volume] in Serum or Plasma
20
10
43.75
27.80
2.9
1.3
g/l
1.2
1.2
—
20
10
(3017766) Complement C4 [Mass/volume] in Serum or Plasma
20
10
43.75
27.80
2.9
1.3
g/l
0.1
0.3
—
13
10
(42870588) Differential panel, method unspecified - Blood
26
83
8.68
8.98
13.1
4.1
—
—
—
0
0
(3004588) Protein electrophoresis panel - Serum or Plasma
10
12
11.15
7.98
6.8
4.4
—
—
—
0
0
(3019250) Coagulation factor VIII activity actual/normal in Platelet poor plasma by Coagulation assay
10
6
22.25
7.22
6.9
1.3
%
160.2
177.5
—
10
6
(3038288) Influenza virus B RNA [Presence] in Specimen by NAA with probe detection
11
20
7.48
6.24
2.1
1.4
—
—
—
0
0
(3022096) Basophils/100 leukocytes in Blood
28
129
6.24
5.87
15.5
4.8
%
0.7
0.7
0.13
28
122
(3000515) Antithrombin actual/normal in Platelet poor plasma by Chromogenic method
9
8
14.44
5.65
7.2
1.1
%
100.7
110.8
—
9
8
(3013650) Neutrophils [#/volume] in Blood by Automated count
31
168
7.06
5.28
19.3
8.7
e9/l
3.5
4.0
0.70
31
153
(3043924) Respiratory syncytial virus RNA [Identifier] in Specimen by NAA with probe detection
10
20
6.54
5.11
1.8
1.3
—
—
—
0
0
(3015816) F5 gene p.Arg506Gln [Presence] in Blood or Tissue by Molecular genetics method
7
5
16.85
4.78
1.0
1.0
—
—
—
0
0
(3028026) IgM [Mass/volume] in Serum or Plasma
9
13
8.80
4.48
10.4
1.4
g/l
6.7
1.2
—
9
13
(3022250) Lactate dehydrogenase [Enzymatic activity/volume] in Serum or Plasma by Lactate to pyruvate reaction
11
28
5.22
4.35
8.1
3.2
u/l
200.1
223.6
0.85
11
28
(3015736) pH of Urine
24
116
4.21
4.09
4.3
3.4
—
—
—
0
0
(3012110) Lysozyme [Mass/volume] in Serum or Plasma
6
5
13.99
3.91
2.0
1.0
mg/l
11.5
9.7
—
6
5
(3044938) Influenza virus A RNA [Presence] in Specimen by NAA with probe detection
11
31
4.67
3.83
2.1
1.4
—
—
—
0
0
(3046870) Tissue transglutaminase IgG Ab [Units/volume] in Serum
6
6
11.64
3.64
1.0
1.3
—
—
—
0
0
(3043723) Beta 1 globulin [Mass/volume] in Serum or Plasma by Electrophoresis
7
10
8.36
3.54
8.3
1.0
—
—
—
0
0
(3019050) Tissue transglutaminase IgA Ab [Units/volume] in Serum
18
78
3.62
3.46
1.2
1.2
u/ml
0.5
0.6
—
8
21
(40760892) CBC W Ordered Manual Differential panel - Blood
18
79
3.56
3.38
6.6
5.2
—
—
—
0
0
(3004119) Hemoglobin [Mass/volume] in Venous blood
7
11
7.58
3.36
60.4
2.8
g/l
129.4
123.2
—
7
11
(3042936) Bacteria identified in Isolate by Culture
11
35
4.09
3.25
3.2
2.1
—
—
—
0
0
(40758558) Short blood count panel - Blood
17
74
3.46
3.20
12.4
6.1
—
—
—
0
0
(3032035) Polymorphonuclear cells/100 leukocytes in Blood
5
5
11.30
3.07
1.6
1.6
%
55.4
59.4
—
5
5
(3030905) Polymorphonuclear cells [#/volume] in Blood
5
5
11.30
3.07
1.6
1.6
e9/l
3.8
5.4
—
5
5
(3009445) Proteinase 3 Ab [Units/volume] in Serum
6
9
7.72
2.99
1.3
1.2
—
—
—
0
0
(3029713) Protein.monoclonal band 1 [Mass/volume] in Serum or Plasma by Electrophoresis
6
9
7.72
2.99
9.3
1.0
g/l
8.1
1.2
—
6
9
(3000991) Gas panel - Venous blood
7
14
5.92
2.88
62.1
2.6
—
—
—
0
0
(3003284) Neutrophil cytoplasmic Ab.perinuclear [Titer] in Serum by Immunofluorescence
5
6
9.40
2.84
1.8
1.7
—
—
—
0
0
(3007164) IgA [Mass/volume] in Serum or Plasma
15
66
3.18
2.70
2.3
1.2
g/l
1.6
2.3
—
10
41
(3016502) Oxygen saturation in Arterial blood
8
21
4.58
2.64
4.3
4.2
%
96.5
95.3
—
8
21
(3006217) Methemoglobin/Hemoglobin.total in Arterial blood
6
13
5.30
2.38
1.8
2.7
%
0.6
0.7
—
6
13
(3003396) Base excess in Arterial blood by calculation
8
25
3.81
2.25
5.0
3.8
mmol/l
2.0
1.2
—
8
15
(3010517) Carboxyhemoglobin/Hemoglobin.total in Venous blood
6
14
4.91
2.25
70.3
2.4
%
1.2
2.0
—
6
14
(3028653) Carboxyhemoglobin/Hemoglobin.total in Arterial blood
6
14
4.91
2.25
1.8
2.6
%
1.7
2.0
—
6
14
(3012544) pH of Venous blood
7
20
4.08
2.18
60.6
2.3
—
—
—
0
0
(3027273) Bicarbonate [Moles/volume] in Venous blood
5
10
5.60
2.14
1.6
3.0
mmol/l
24.0
23.5
—
5
10
(3000492) Spirometry study
6
16
4.27
2.03
2.0
1.6
—
—
—
0
0
(3033658) Prothrombin time (PT) actual/Normal
15
77
2.63
1.96
7.5
2.8
%
99.0
93.8
0.48
15
77
(3023368) Bacteria identified in Blood by Culture
12
55
2.77
1.93
8.3
3.5
—
—
—
0
0
(3037467) Urinalysis macro (dipstick) panel - Urine
28
203
2.70
1.88
10.3
3.9
—
—
—
0
0
(3032080) INR in Blood by Coagulation assay
17
95
2.50
1.85
6.6
6.8
inr
1.2
1.1
—
6
29
(3029287) Urinalysis microscopic panel [#/volume] - Urine by Automated count
16
87
2.51
1.84
7.1
2.7
—
—
—
0
0
(3027801) Oxygen [Partial pressure] in Arterial blood
7
24
3.36
1.83
5.6
3.7
kpa
13.3
14.2
—
7
24
(3027946) Carbon dioxide [Partial pressure] in Arterial blood
7
24
3.36
1.83
5.6
3.7
kpa
5.2
4.9
—
7
24
(3041096) Erythrocytes [Presence] in Urine by Automated
16
88
2.47
1.79
3.3
3.2
—
—
—
0
0
(3019060) Gas panel - Arterial blood
5
13
4.28
1.77
5.4
5.2
—
—
—
0
0
(3002032) Base excess in Venous blood by calculation
6
19
3.57
1.74
70.5
2.4
mmol/l
-0.5
2.1
—
6
12
(40761535) Cells panel - Urine sediment
6
19
3.57
1.74
2.8
2.7
—
—
—
0
0
(3024135) Streptococcus.beta-hemolytic [Presence] in Throat by Organism specific culture
13
66
2.52
1.70
1.8
1.6
—
—
—
0
0
(3014007) Fractional oxyhemoglobin in Arterial blood
5
14
3.96
1.67
2.0
3.0
%
93.9
92.2
—
5
14
(3034780) Angiotensin converting enzyme [Enzymatic activity/volume] in Serum or Plasma
5
14
3.96
1.67
1.0
1.4
u/l
38.0
42.7
—
5
14
(3007853) Bacteria identified in Skin by Aerobe culture
8
33
2.82
1.65
4.8
1.3
—
—
—
0
0
(3019902) Methicillin resistant Staphylococcus aureus [Presence] in Specimen by Organism specific culture
6
21
3.21
1.58
3.7
4.7
—
—
—
0
0
(4010399)
6
21
3.21
1.58
1.7
1.4
—
—
—
0
0
(3000494) Fungus identified in Specimen by Culture
7
28
2.85
1.54
2.1
1.5
—
—
—
0
0
(3011397) Hemoglobin [Presence] in Urine by Test strip
13
69
2.38
1.53
4.8
3.1
—
—
—
0
0
(46236098) ABO and Rh group [Type] in Blood by Confirmatory method
12
63
2.36
1.43
3.2
1.9
—
—
—
0
0
(3016293) Bicarbonate [Moles/volume] in Serum or Plasma
5
17
3.24
1.41
46.0
2.1
mmol/l
26.4
24.5
—
5
17
(3002256) Pathology report gross observation
8
38
2.41
1.28
1.3
1.1
—
—
—
0
0
(3022217) INR in Platelet poor plasma by Coagulation assay
6
26
2.56
1.24
34.7
11.2
—
1.3
—
0
5
(3000850) Epithelial cells [#/volume] in Urine
11
60
2.20
1.19
6.3
2.1
e6/l
2.4
5.0
1.32
11
53
(40763086) Leukocyte esterase [Presence] in Urine by Automated test strip
18
122
1.95
1.09
5.6
3.5
—
—
—
0
0
(40761536) Microorganisms panel - Urine sediment
5
22
2.47
1.07
4.8
2.8
—
—
—
0
0
(3011371) Neisseria gonorrhoeae DNA [Presence] in Specimen by NAA with probe detection
5
22
2.47
1.07
2.0
1.7
—
—
—
0
0
(36304419) Bacteria [Presence] in Urine
12
71
2.04
1.05
8.0
2.5
—
—
—
0
0
(3006093) Chlamydia trachomatis DNA [Presence] in Specimen by NAA with probe detection
6
28
2.36
0.97
2.3
1.7
—
—
—
0
0
(36660697) Celiac disease serology panel - Serum
6
30
2.19
0.92
1.0
1.2
—
—
—
0
0
(3001079) Blood group antibody screen [Presence] in Serum or Plasma
20
148
1.79
0.87
6.5
3.8
—
—
—
0
0
(3026782) Osmolality of Urine
9
52
1.97
0.85
7.1
2.4
mosm/kgh2o
438.6
514.1
—
9
44
(40763571) Iron/Transferrin [Ratio] in Serum or Plasma
6
33
1.98
0.83
2.8
2.2
%
14.1
25.1
—
6
26
(3033319) Streptococcus pyogenes Ag [Presence] in Throat
7
41
1.87
0.75
1.3
1.5
—
—
—
0
0
(3003694) ABO and Rh group [Type] in Blood
13
89
1.72
0.71
1.5
1.4
—
—
—
0
0
(3026008) Bacteria identified in Urine by Culture
12
82
1.70
0.65
3.4
2.7
—
—
—
0
0
(3041942) Cyclic citrullinated peptide Ab [Units/volume] in Serum
8
54
1.62
0.62
1.1
1.2
—
4.5
—
0
23
(3010156) C reactive protein [Mass/volume] in Serum or Plasma by High sensitivity method
0
20
0.00
0.62
0.0
1.4
—
2.9
—
0
11
(3004789) Transferrin [Mass/volume] in Serum or Plasma
6
36
1.80
0.60
3.0
2.1
g/l
2.5
2.5
—
6
31
(3044889) 12 lead EKG panel
25
209
1.64
0.60
4.9
3.2
—
—
—
0
0
(3044640) Blood type and Crossmatch panel - Blood
13
93
1.62
0.59
4.1
1.9
—
—
—
0
0
(706163) SARS-CoV-2 (COVID-19) RNA [Presence] in Respiratory system specimen by NAA with probe detection
27
232
1.65
0.57
3.7
3.2
—
—
—
0
0
(1761868) Lipid panel - Serum or Plasma
9
127
0.61
0.57
2.4
2.7
—
—
—
0
0
(3004716) Salmonella sp identified in Stool by Organism specific culture
0
16
0.00
0.42
0.0
1.7
—
—
—
0
0
(3050129) First trimester maternal screen panel - Serum or Plasma
0
17
0.00
0.42
0.0
1.5
—
—
—
0
0
(46235355) HIV 1 and 2 tests - Meaningful Use set
9
70
1.38
0.41
2.8
2.1
—
—
—
0
0
(40768797) Stomach Pathology biopsy report
6
41
1.55
0.38
1.2
1.1
—
—
—
0
0
(3007461) Platelets [#/volume] in Blood
36
349
+∞
0.22
41.6
15.9
e9/l
280.6
255.0
1.31
36
339
(3024731) MCV [Entitic volume]
36
350
+∞
0.22
41.5
15.8
fl
90.4
90.6
0.14
36
345
(3026361) Erythrocytes [#/volume] in Blood
36
350
+∞
0.22
41.6
15.9
e12/l
4.6
4.5
0.55
36
341
(3004490) Bicarbonate [Moles/volume] standard in Capillary blood
0
10
0.00
0.22
0.0
3.7
—
25.0
—
0
10
(3000963) Hemoglobin [Mass/volume] in Blood
36
350
+∞
0.22
41.9
16.0
g/l
136.1
136.5
0.09
36
345
(3035941) MCH [Entitic mass]
36
350
+∞
0.22
41.6
15.8
pg
30.0
30.2
0.31
36
345
(3010813) Leukocytes [#/volume] in Blood
36
350
+∞
0.22
41.8
15.9
e9/l
7.3
6.6
0.85
36
341
(3030366) Cystatin C [Mass/volume] in Serum or Plasma
0
10
0.00
0.22
0.0
2.3
—
1.5
—
0
10
(3024950) Chlamydia trachomatis DNA [Presence] in Urine by NAA with probe detection
6
48
1.30
0.22
3.0
2.4
—
—
—
0
0
(3005033) Fetal Nuchal fold Thickness US
0
12
0.00
0.21
0.0
1.5
—
—
—
0
0
(3043238) Trisomy 21 risk [Likelihood] in Fetus
0
12
0.00
0.21
0.0
1.7
—
—
—
0
0
(40768793) Breast Pathology biopsy report
0
12
0.00
0.21
0.0
1.3
—
—
—
0
0
(3047352) Trisomy 18 risk [Likelihood] in Fetus
0
12
0.00
0.21
0.0
1.5
—
—
—
0
0
(3019145) Choriogonadotropin.beta subunit free [Mass/volume] in Serum or Plasma
0
12
0.00
0.21
0.0
1.8
—
—
—
0
0
(40763531) Fetal Nuchal fold [Multiple of the median] Thickness adjusted for maternal weight
0
13
0.00
0.21
0.0
1.5
—
—
—
0
0
(3049207) Fetal Trisomy 21 risk [Likelihood] Based on maternal age
0
13
0.00
0.21
0.0
1.5
—
—
—
0
0
(3008714) Choriogonadotropin [Multiple of the median] adjusted in Serum or Plasma
0
13
0.00
0.21
0.0
1.5
—
—
—
0
0
(46235831) Pregnancy associated plasma protein A [Multiple of the median] adjusted in Serum or Plasma
0
13
0.00
0.21
0.0
1.5
—
—
—
0
0
(3045414) Leukocytes [Presence] in Urine
0
14
0.00
0.20
0.0
1.1
—
—
—
0
0
(3009542) Hematocrit [Volume Fraction] of Blood
30
284
1.34
0.18
42.8
10.5
%
39.0
40.3
0.28
22
218
(43054903) Holo-transcobalamin II [Moles/volume] in Serum
14
123
1.23
0.15
1.9
1.6
pmol/l
97.0
108.8
—
9
57
(3003510) Neisseria gonorrhoeae DNA [Presence] in Urine by NAA with probe detection
5
44
1.16
0.10
3.2
2.3
—
—
—
0
0
(3009035) Cobalamin (Vitamin B12) [Moles/volume] in Serum or Plasma
6
56
1.09
0.09
2.8
1.6
pmol/l
413.5
582.1
—
6
49
(3018006) Microscopic observation [Identifier] in Cervix by Cyto stain.thin prep
6
71
0.81
0.08
2.0
1.5
—
—
—
0
0
(3013512) EKG study
6
73
0.79
0.08
3.0
3.3
—
—
—
0
0
(40768804) Tissue Pathology biopsy report
12
127
0.92
0.02
2.3
1.8
—
—
—
0
0
(3001122) Ferritin [Mass/volume] in Serum or Plasma
15
147
1.03
0.00
3.8
2.5
ug/l
91.5
80.1
0.14
15
141
(3000924) Streptococcus pyogenes [Presence] in Throat by Organism specific culture
0
5
0.00
0.00
0.0
1.2
—
—
—
0
0
(42529200) Cancer Ag 15-3 [Units/volume] in Serum or Plasma by Immunoassay
0
5
0.00
0.00
0.0
7.0
—
198.0
—
0
5
(3004616) Nuclear Ab [Presence] in Serum
0
5
0.00
0.00
0.0
1.0
—
—
—
0
0
(3014973) Borrelia burgdorferi IgM Ab [Units/volume] in Cerebral spinal fluid
0
5
0.00
0.00
0.0
1.0
—
—
—
0
0
(3008909) Norovirus RNA [Presence] in Stool by NAA with probe detection
0
5
0.00
0.00
0.0
1.0
—
—
—
0
0
(3014148) Varicella zoster virus Ab [Titer] in Serum
0
5
0.00
0.00
0.0
1.2
—
—
—
0
0
(3009508) Creatinine [Moles/volume] in Urine
8
82
0.97
0.00
2.9
2.6
mmol/l
6.3
7.4
—
8
71
(3012220) Varicella zoster virus IgM Ab [Presence] in Serum by Immunoassay
0
5
0.00
0.00
0.0
1.0
—
—
—
0
0
(3003181) Sodium [Moles/volume] in Urine
0
5
0.00
0.00
0.0
1.0
—
55.6
—
0
5
(3044254) Respiratory syncytial virus RNA [Presence] in Specimen by NAA with probe detection
0
9
0.00
0.00
0.0
1.4
—
—
—
0
0
(3014051) Protein [Presence] in Urine by Test strip
0
6
0.00
0.00
0.0
1.2
—
—
—
0
0
(42529406) Shigella sp [Presence] in Stool by Culture
0
9
0.00
0.00
0.0
1.3
—
—
—
0
0
(3045424) Erythrocytes [Presence] in Urine
0
7
0.00
0.00
0.0
1.0
—
—
—
0
0
(40758310) Human epididymis protein 4 [Moles/volume] in Serum or Plasma
0
9
0.00
0.00
0.0
1.2
—
52.9
—
0
9
(3014765) Yersinia sp identified in Stool by Organism specific culture
0
9
0.00
0.00
0.0
1.3
—
—
—
0
0
(3022313) Gas panel - Capillary blood
0
9
0.00
0.00
0.0
4.0
—
—
—
0
0
(3023511) Choriogonadotropin [Units/volume] in Urine
0
9
0.00
0.00
0.0
1.1
—
—
—
0
0
(3005570) Glucose [Moles/volume] in Urine
0
6
0.00
0.00
0.0
2.8
—
—
—
0
0
(3014791) Apolipoprotein B [Mass/volume] in Serum or Plasma
0
6
0.00
0.00
0.0
1.5
—
0.9
—
0
6
(3029080) Hemoglobin [Entitic mass] in Reticulocytes
0
6
0.00
0.00
0.0
1.0
—
31.8
—
0
6
(3006418) Campylobacter sp identified in Tissue by Organism specific culture
0
9
0.00
0.00
0.0
1.3
—
—
—
0
0
(46235759) Influenza virus B RNA [Presence] in Nasopharynx by NAA with probe detection
0
9
0.00
0.00
0.0
1.6
—
—
—
0
0
(44816559) Phosphatidylethanol [Mass/volume] in Blood
0
7
0.00
0.00
0.0
1.0
—
—
—
0
0
(3019284) Hepatitis B virus surface Ag [Presence] in Serum
6
62
0.96
0.00
2.7
1.6
—
—
—
0
0
(3000855) Microscopic observation [Identifier] in Vaginal fluid by Gram stain
0
9
0.00
0.00
0.0
1.7
—
—
—
0
0

Mortality – FinRegistry

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

Relationships between endpoints

Index endpoint: D3_ANGIOEDEMA_1 – Hereditary angioödema type 1

GWS hits: -

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