Hereditary angioödema type 1

D3_ANGIOEDEMA_1

No definition available.

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

NAME	D3_ANGIOEDEMA_1
CONTROL_EXCLUDE	D3_IMMUNEMECHANISM
CONTROL_PRECONDITIONS
CONTROL_CONDITIONS
SEX
INCLUDE
PRE_CONDITIONS
CONDITIONS
OUTPAT_ICD
OUTPAT_OPER
HD_MAINONLY
HD_ICD_10_ATC
HD_ICD_10	D8411
HD_ICD_9
HD_ICD_8
HD_ICD_10_EXCL
HD_ICD_9_EXCL
HD_ICD_8_EXCL
COD_MAINONLY
COD_ICD_10	D8411
COD_ICD_9
COD_ICD_8
COD_ICD_10_EXCL
COD_ICD_9_EXCL
COD_ICD_8_EXCL
OPER_NOM
OPER_HL
OPER_HP1
OPER_HP2
KELA_REIMB
KELA_REIMB_ICD
KELA_ATC_NEEDOTHER
KELA_ATC
KELA_VNRO_NEEDOTHER
KELA_VNRO
CANC_TOPO
CANC_TOPO_EXCL
CANC_MORPH
CANC_MORPH_EXCL
CANC_BEHAV

Similar endpoints

↥

List of similar endpoints to Hereditary angioödema type 1 based on the number of shared cases.

Similar with more cases:

Similar with less cases:

None

Case counts by codes

↥

FinnGen case counts by registry codes:

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

↥

(ID) Name

N Cases

N Controls

-log₁₀(p)

cases

controls

cases

controls

unit

-log₁₀(p)

N cases

N controls

(3000620) Complement C3 [Mass/volume] in Serum or Plasma

43.75

27.80

2.9

1.3

1.2

g/l

—

(3017766) Complement C4 [Mass/volume] in Serum or Plasma

43.75

27.80

2.9

1.3

0.1

0.3

g/l

—

(42870588) Differential panel, method unspecified - Blood

8.68

8.98

13.1

4.1

—

(3004588) Protein electrophoresis panel - Serum or Plasma

11.15

7.98

6.8

4.4

—

(3019250) Coagulation factor VIII activity actual/normal in Platelet poor plasma by Coagulation assay

22.25

7.22

6.9

1.3

160.2

177.5

—

(3038288) Influenza virus B RNA [Presence] in Specimen by NAA with probe detection

7.48

6.24

2.1

1.4

—

(3022096) Basophils/100 leukocytes in Blood

129

6.24

5.87

15.5

4.8

0.7

0.13

122

(3000515) Antithrombin actual/normal in Platelet poor plasma by Chromogenic method

14.44

5.65

7.2

1.1

100.7

110.8

—

(3013650) Neutrophils [#/volume] in Blood by Automated count

168

7.06

5.28

19.3

8.7

3.5

4.0

e9/l

0.70

153

(3043924) Respiratory syncytial virus RNA [Identifier] in Specimen by NAA with probe detection

6.54

5.11

1.8

1.3

—

(3015816) F5 gene p.Arg506Gln [Presence] in Blood or Tissue by Molecular genetics method

16.85

4.78

1.0

—

(3028026) IgM [Mass/volume] in Serum or Plasma

8.80

4.48

10.4

1.4

6.7

1.2

g/l

—

(3022250) Lactate dehydrogenase [Enzymatic activity/volume] in Serum or Plasma by Lactate to pyruvate reaction

5.22

4.35

8.1

3.2

200.1

223.6

u/l

0.85

(3015736) pH of Urine

116

4.21

4.09

4.3

3.4

—

(3012110) Lysozyme [Mass/volume] in Serum or Plasma

13.99

3.91

2.0

1.0

11.5

9.7

mg/l

—

(3044938) Influenza virus A RNA [Presence] in Specimen by NAA with probe detection

4.67

3.83

2.1

1.4

—

(3046870) Tissue transglutaminase IgG Ab [Units/volume] in Serum

11.64

3.64

1.0

1.3

—

(3043723) Beta 1 globulin [Mass/volume] in Serum or Plasma by Electrophoresis

8.36

3.54

8.3

1.0

—

(3019050) Tissue transglutaminase IgA Ab [Units/volume] in Serum

3.62

3.46

1.2

0.5

0.6

u/ml

—

(40760892) CBC W Ordered Manual Differential panel - Blood

3.56

3.38

6.6

5.2

—

(3004119) Hemoglobin [Mass/volume] in Venous blood

7.58

3.36

60.4

2.8

129.4

123.2

g/l

—

(3042936) Bacteria identified in Isolate by Culture

4.09

3.25

3.2

2.1

—

(40758558) Short blood count panel - Blood

3.46

3.20

12.4

6.1

—

(3032035) Polymorphonuclear cells/100 leukocytes in Blood

11.30

3.07

1.6

55.4

59.4

—

(3030905) Polymorphonuclear cells [#/volume] in Blood

11.30

3.07

1.6

3.8

5.4

e9/l

—

(3009445) Proteinase 3 Ab [Units/volume] in Serum

7.72

2.99

1.3

1.2

—

(3029713) Protein.monoclonal band 1 [Mass/volume] in Serum or Plasma by Electrophoresis

7.72

2.99

9.3

1.0

8.1

1.2

g/l

—

(3000991) Gas panel - Venous blood

5.92

2.88

62.1

2.6

—

(3003284) Neutrophil cytoplasmic Ab.perinuclear [Titer] in Serum by Immunofluorescence

9.40

2.84

1.8

1.7

—

(3007164) IgA [Mass/volume] in Serum or Plasma

3.18

2.70

2.3

1.2

1.6

2.3

g/l

—

(3016502) Oxygen saturation in Arterial blood

4.58

2.64

4.3

4.2

96.5

95.3

—

(3006217) Methemoglobin/Hemoglobin.total in Arterial blood

5.30

2.38

1.8

2.7

0.6

0.7

—

(3003396) Base excess in Arterial blood by calculation

3.81

2.25

5.0

3.8

2.0

1.2

mmol/l

—

(3010517) Carboxyhemoglobin/Hemoglobin.total in Venous blood

4.91

2.25

70.3

2.4

1.2

2.0

—

(3028653) Carboxyhemoglobin/Hemoglobin.total in Arterial blood

4.91

2.25

1.8

2.6

1.7

2.0

—

(3012544) pH of Venous blood

4.08

2.18

60.6

2.3

—

(3027273) Bicarbonate [Moles/volume] in Venous blood

5.60

2.14

1.6

3.0

24.0

23.5

mmol/l

—

(3000492) Spirometry study

4.27

2.03

2.0

1.6

—

(3033658) Prothrombin time (PT) actual/Normal

2.63

1.96

7.5

2.8

99.0

93.8

0.48

(3023368) Bacteria identified in Blood by Culture

2.77

1.93

8.3

3.5

—

(3037467) Urinalysis macro (dipstick) panel - Urine

203

2.70

1.88

10.3

3.9

—

(3032080) INR in Blood by Coagulation assay

2.50

1.85

6.6

6.8

1.2

1.1

inr

—

(3029287) Urinalysis microscopic panel [#/volume] - Urine by Automated count

2.51

1.84

7.1

2.7

—

(3027801) Oxygen [Partial pressure] in Arterial blood

3.36

1.83

5.6

3.7

13.3

14.2

kpa

—

(3027946) Carbon dioxide [Partial pressure] in Arterial blood

3.36

1.83

5.6

3.7

5.2

4.9

kpa

—

(3041096) Erythrocytes [Presence] in Urine by Automated

2.47

1.79

3.3

3.2

—

(3019060) Gas panel - Arterial blood

4.28

1.77

5.4

5.2

—

(3002032) Base excess in Venous blood by calculation

3.57

1.74

70.5

2.4

-0.5

2.1

mmol/l

—

(40761535) Cells panel - Urine sediment

3.57

1.74

2.8

2.7

—

(3024135) Streptococcus.beta-hemolytic [Presence] in Throat by Organism specific culture

2.52

1.70

1.8

1.6

—

(3014007) Fractional oxyhemoglobin in Arterial blood

3.96

1.67

2.0

3.0

93.9

92.2

—

(3034780) Angiotensin converting enzyme [Enzymatic activity/volume] in Serum or Plasma

3.96

1.67

1.0

1.4

38.0

42.7

u/l

—

(3007853) Bacteria identified in Skin by Aerobe culture

2.82

1.65

4.8

1.3

—

(3019902) Methicillin resistant Staphylococcus aureus [Presence] in Specimen by Organism specific culture

3.21

1.58

3.7

4.7

—

(4010399)

3.21

1.58

1.7

1.4

—

(3000494) Fungus identified in Specimen by Culture

2.85

1.54

2.1

1.5

—

(3011397) Hemoglobin [Presence] in Urine by Test strip

2.38

1.53

4.8

3.1

—

(46236098) ABO and Rh group [Type] in Blood by Confirmatory method

2.36

1.43

3.2

1.9

—

(3016293) Bicarbonate [Moles/volume] in Serum or Plasma

3.24

1.41

46.0

2.1

26.4

24.5

mmol/l

—

(3002256) Pathology report gross observation

2.41

1.28

1.3

1.1

—

(3022217) INR in Platelet poor plasma by Coagulation assay

2.56

1.24

34.7

11.2

—

1.3

—

(3000850) Epithelial cells [#/volume] in Urine

2.20

1.19

6.3

2.1

2.4

5.0

e6/l

1.32

(40763086) Leukocyte esterase [Presence] in Urine by Automated test strip

122

1.95

1.09

5.6

3.5

—

(40761536) Microorganisms panel - Urine sediment

2.47

1.07

4.8

2.8

—

(3011371) Neisseria gonorrhoeae DNA [Presence] in Specimen by NAA with probe detection

2.47

1.07

2.0

1.7

—

(36304419) Bacteria [Presence] in Urine

2.04

1.05

8.0

2.5

—

(3006093) Chlamydia trachomatis DNA [Presence] in Specimen by NAA with probe detection

2.36

0.97

2.3

1.7

—

(36660697) Celiac disease serology panel - Serum

2.19

0.92

1.0

1.2

—

(3001079) Blood group antibody screen [Presence] in Serum or Plasma

148

1.79

0.87

6.5

3.8

—

(3026782) Osmolality of Urine

1.97

0.85

7.1

2.4

438.6

514.1

mosm/kgh2o

—

(40763571) Iron/Transferrin [Ratio] in Serum or Plasma

1.98

0.83

2.8

2.2

14.1

25.1

—

(3033319) Streptococcus pyogenes Ag [Presence] in Throat

1.87

0.75

1.3

1.5

—

(3003694) ABO and Rh group [Type] in Blood

1.72

0.71

1.5

1.4

—

(3026008) Bacteria identified in Urine by Culture

1.70

0.65

3.4

2.7

—

(3041942) Cyclic citrullinated peptide Ab [Units/volume] in Serum

1.62

0.62

1.1

1.2

—

4.5

—

(3010156) C reactive protein [Mass/volume] in Serum or Plasma by High sensitivity method

0.00

0.62

0.0

1.4

—

2.9

—

(3004789) Transferrin [Mass/volume] in Serum or Plasma

1.80

0.60

3.0

2.1

2.5

g/l

—

(3044889) 12 lead EKG panel

209

1.64

0.60

4.9

3.2

—

(3044640) Blood type and Crossmatch panel - Blood

1.62

0.59

4.1

1.9

—

(706163) SARS-CoV-2 (COVID-19) RNA [Presence] in Respiratory system specimen by NAA with probe detection

232

1.65

0.57

3.7

3.2

—

(1761868) Lipid panel - Serum or Plasma

127

0.61

0.57

2.4

2.7

—

(3004716) Salmonella sp identified in Stool by Organism specific culture

0.00

0.42

0.0

1.7

—

(3050129) First trimester maternal screen panel - Serum or Plasma

0.00

0.42

0.0

1.5

—

(46235355) HIV 1 and 2 tests - Meaningful Use set

1.38

0.41

2.8

2.1

—

(40768797) Stomach Pathology biopsy report

1.55

0.38

1.2

1.1

—

(3007461) Platelets [#/volume] in Blood

349

+∞

0.22

41.6

15.9

280.6

255.0

e9/l

1.31

339

(3024731) MCV [Entitic volume]

350

+∞

0.22

41.5

15.8

90.4

90.6

0.14

345

(3026361) Erythrocytes [#/volume] in Blood

350

+∞

0.22

41.6

15.9

4.6

4.5

e12/l

0.55

341

(3004490) Bicarbonate [Moles/volume] standard in Capillary blood

0.00

0.22

0.0

3.7

—

25.0

—

(3000963) Hemoglobin [Mass/volume] in Blood

350

+∞

0.22

41.9

16.0

136.1

136.5

g/l

0.09

345

(3035941) MCH [Entitic mass]

350

+∞

0.22

41.6

15.8

30.0

30.2

0.31

345

(3010813) Leukocytes [#/volume] in Blood

350

+∞

0.22

41.8

15.9

7.3

6.6

e9/l

0.85

341

(3030366) Cystatin C [Mass/volume] in Serum or Plasma

0.00

0.22

0.0

2.3

—

1.5

—

(3024950) Chlamydia trachomatis DNA [Presence] in Urine by NAA with probe detection

1.30

0.22

3.0

2.4

—

(3005033) Fetal Nuchal fold Thickness US

0.00

0.21

0.0

1.5

—

(3043238) Trisomy 21 risk [Likelihood] in Fetus

0.00

0.21

0.0

1.7

—

(40768793) Breast Pathology biopsy report

0.00

0.21

0.0

1.3

—

(3047352) Trisomy 18 risk [Likelihood] in Fetus

0.00

0.21

0.0

1.5

—

(3019145) Choriogonadotropin.beta subunit free [Mass/volume] in Serum or Plasma

0.00

0.21

0.0

1.8

—

(40763531) Fetal Nuchal fold [Multiple of the median] Thickness adjusted for maternal weight

0.00

0.21

0.0

1.5

—

(3049207) Fetal Trisomy 21 risk [Likelihood] Based on maternal age

0.00

0.21

0.0

1.5

—

(3008714) Choriogonadotropin [Multiple of the median] adjusted in Serum or Plasma

0.00

0.21

0.0

1.5

—

(46235831) Pregnancy associated plasma protein A [Multiple of the median] adjusted in Serum or Plasma

0.00

0.21

0.0

1.5

—

(3045414) Leukocytes [Presence] in Urine

0.00

0.20

0.0

1.1

—

(3009542) Hematocrit [Volume Fraction] of Blood

284

1.34

0.18

42.8

10.5

39.0

40.3

0.28

218

(43054903) Holo-transcobalamin II [Moles/volume] in Serum

123

1.23

0.15

1.9

1.6

97.0

108.8

pmol/l

—

(3003510) Neisseria gonorrhoeae DNA [Presence] in Urine by NAA with probe detection

1.16

0.10

3.2

2.3

—

(3009035) Cobalamin (Vitamin B12) [Moles/volume] in Serum or Plasma

1.09

0.09

2.8

1.6

413.5

582.1

pmol/l

—

(3018006) Microscopic observation [Identifier] in Cervix by Cyto stain.thin prep

0.81

0.08

2.0

1.5

—

(3013512) EKG study

0.79

0.08

3.0

3.3

—

(40768804) Tissue Pathology biopsy report

127

0.92

0.02

2.3

1.8

—

(3001122) Ferritin [Mass/volume] in Serum or Plasma

147

1.03

0.00

3.8

2.5

91.5

80.1

ug/l

0.14

141

(3000924) Streptococcus pyogenes [Presence] in Throat by Organism specific culture

0.00

0.0

1.2

—

(42529200) Cancer Ag 15-3 [Units/volume] in Serum or Plasma by Immunoassay

0.00

0.0

7.0

—

198.0

—

(3004616) Nuclear Ab [Presence] in Serum

0.00

0.0

1.0

—

(3014973) Borrelia burgdorferi IgM Ab [Units/volume] in Cerebral spinal fluid

0.00

0.0

1.0

—

(3008909) Norovirus RNA [Presence] in Stool by NAA with probe detection

0.00

0.0

1.0

—

(3014148) Varicella zoster virus Ab [Titer] in Serum

0.00

0.0

1.2

—

(3009508) Creatinine [Moles/volume] in Urine

0.97

0.00

2.9

2.6

6.3

7.4

mmol/l

—

(3012220) Varicella zoster virus IgM Ab [Presence] in Serum by Immunoassay

0.00

0.0

1.0

—

(3003181) Sodium [Moles/volume] in Urine

0.00

0.0

1.0

—

55.6

—

(3044254) Respiratory syncytial virus RNA [Presence] in Specimen by NAA with probe detection

0.00

0.0

1.4

—

(3014051) Protein [Presence] in Urine by Test strip

0.00

0.0

1.2

—

(42529406) Shigella sp [Presence] in Stool by Culture

0.00

0.0

1.3

—

(3045424) Erythrocytes [Presence] in Urine

0.00

0.0

1.0

—

(40758310) Human epididymis protein 4 [Moles/volume] in Serum or Plasma

0.00

0.0

1.2

—

52.9

—

(3014765) Yersinia sp identified in Stool by Organism specific culture

0.00

0.0

1.3

—

(3022313) Gas panel - Capillary blood

0.00

0.0

4.0

—

(3023511) Choriogonadotropin [Units/volume] in Urine

0.00

0.0

1.1

—

(3005570) Glucose [Moles/volume] in Urine

0.00

0.0

2.8

—

(3014791) Apolipoprotein B [Mass/volume] in Serum or Plasma

0.00

0.0

1.5

—

0.9

—

(3029080) Hemoglobin [Entitic mass] in Reticulocytes

0.00

0.0

1.0

—

31.8

—

(3006418) Campylobacter sp identified in Tissue by Organism specific culture

0.00

0.0

1.3

—

(46235759) Influenza virus B RNA [Presence] in Nasopharynx by NAA with probe detection

0.00

0.0

1.6

—

(44816559) Phosphatidylethanol [Mass/volume] in Blood

0.00

0.0

1.0

—

(3019284) Hepatitis B virus surface Ag [Presence] in Serum

0.96

0.00

2.7

1.6

—

(3000855) Microscopic observation [Identifier] in Vaginal fluid by Gram stain

0.00

0.0

1.7

—

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).

≡ Risteys

FG R12 + FR

FinnGen R11 + FinRegistry

FinnGen R10 + FinRegistry

FinnGen R10

FinnGen R9

FinnGen R8

FinnGen R7

FinnGen R6

FinnGen R5

FinnGen R4

FinnGen R3

Hereditary angioödema type 1

Endpoint definition

Endpoint definition steps

FinnGen

Phenotype data

1. Apply sex-specific rule

2. Check conditions

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

4. Check minimum number of events

5. Include endpoints

6. Filter based on genotype QC (FinnGen only)

All original rules

Similar endpoints

Case counts by codes

Upset plot

Case counts by code for Hereditary angioödema type 1 (D3_ANGIOEDEMA_1)

Summary Statistics

-FinRegistry-

-FinnGen-

Key figures

-FinnGen-

Age distribution of first events

-FinnGen-

Year distribution of first events

-FinnGen-

Cumulative Incidence Function

CodeWAS (R11)

LabWAS

Mortality – FinRegistry

Relationships between endpoints