Risteys · D3_ANGIOEDEMA

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 — D84.12 Cause of death: ICD-10 — D84.12 2 out of 7 registries used, show all original rules.	14
4. Check minimum number of events None	14
5. Include endpoints None	14
6. Filter based on genotype QC (FinnGen only)	14

Summary Statistics

↥

-FinRegistry-

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

-FinnGen-

Key figures

	All	Female	Male
Number of individuals	14	10	-
Unadjusted period prevalence (%)	0.00	0.00	-
Median age at first event (years)	49.44	48.65	-

-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

unit

cases

controls

-log₁₀(p)

N cases

N controls

(3023659) Complement C1 esterase inhibitor.functional/Complement C1 esterase inhibitor.total in Serum or Plasma

+∞

9.34

2.5

0.0

48.9

—

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

28.11

5.96

2.4

1.3

g/l

0.2

0.3

—

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

18.17

4.61

2.6

1.3

g/l

1.4

—

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

7.06

2.28

2.6

3.8

—

(3041096) Erythrocytes [Presence] in Urine by Automated

3.09

1.26

2.9

2.7

—

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

0.00

0.88

0.0

1.5

—

(3013512) EKG study

2.80

0.87

1.4

3.5

—

(3023368) Bacteria identified in Blood by Culture

2.66

0.85

4.0

4.1

—

(1761868) Lipid panel - Serum or Plasma

2.39

0.83

3.9

2.6

—

(3007220) Creatine kinase [Enzymatic activity/volume] in Serum or Plasma

2.11

0.71

1.0

1.8

u/l

181.0

85.4

—

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

2.08

0.66

1.2

1.4

—

(3009542) Hematocrit [Volume Fraction] of Blood

120

+∞

0.66

13.4

11.6

41.8

40.2

—

100

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

0.00

0.65

0.0

1.4

—

(3015736) pH of Urine

2.18

0.60

3.7

3.4

—

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

1.88

0.56

6.3

4.6

—

(3019150) Specific gravity of Urine by Refractometry

2.03

0.51

4.4

4.1

—

1.0

—

(3029879) Epithelial cells.squamous [#/volume] in Urine by Automated count

0.00

0.44

0.0

2.6

—

0.8

—

(3030306) Epithelial cells.non-squamous [#/volume] in Urine by Automated count

0.00

0.43

0.0

2.5

—

0.8

—

(3002109) Cholesterol in LDL/Cholesterol in HDL [Mass Ratio] in Serum or Plasma

0.00

0.43

0.0

1.9

—

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

1.79

0.41

4.6

3.8

—

(3018095) Leukocytes [#/volume] in Urine

1.60

0.28

2.2

3.3

e6/l

8.3

25.4

—

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

0.00

0.22

0.0

1.8

—

(3025941) Bacteria identified in Stool by Culture

0.00

0.22

0.0

1.2

—

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

0.00

0.22

0.0

1.9

—

(3045783) Sodium and Potassium panel [Moles/volume] - Serum or Plasma

0.00

0.22

0.0

8.2

—

(40768797) Stomach Pathology biopsy report

0.00

0.22

0.0

1.5

—

(3021879) Hepatitis B virus core Ab [Presence] in Serum

0.00

0.22

0.0

2.0

—

(3044491) Cholesterol non HDL [Mass/volume] in Serum or Plasma

0.00

0.22

0.0

1.5

—

(3024561) Albumin [Mass/volume] in Serum or Plasma

1.29

0.12

7.2

4.2

g/l

34.6

35.0

—

(3037467) Urinalysis macro (dipstick) panel - Urine

1.31

0.11

5.1

4.0

—

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

1.22

0.11

1.9

2.7

ug/l

104.0

71.8

—

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

0.00

0.0

1.5

—

(3020961) Endomysium IgA Ab [Titer] in Serum

0.00

0.0

1.1

—

(3020779) Urea [Moles/volume] in Serum or Plasma

0.00

0.0

2.6

—

7.1

—

(3008898) HLA-B27 [Presence]

0.00

0.0

1.0

—

(3005772) Bilirubin.conjugated [Moles/volume] in Serum or Plasma

0.00

0.0

2.0

—

5.1

—

(36032419) SARS-CoV-2 (COVID-19) Ag [Presence] in Upper respiratory specimen by Immunoassay

0.00

0.0

1.4

—

(3001019) Free T4 and TSH panel - Serum or Plasma

0.00

0.0

1.1

—

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

0.00

0.0

1.1

—

(3003191) Choriogonadotropin (pregnancy test) [Presence] in Serum or Plasma

0.00

0.0

1.4

—

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

0.00

0.0

1.0

—

110.6

—

(3003785) Carcinoembryonic Ag [Mass/volume] in Serum or Plasma

0.00

0.0

7.1

—

2.2

—

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

0.00

0.0

1.0

—

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

0.00

0.0

2.2

—

(3014111) Lactate [Moles/volume] in Serum or Plasma

0.00

0.0

6.2

—

1.0

—

(4306422)

0.00

0.0

1.0

—

(3044355) Beta 2 glycoprotein 1 IgG Ab [Units/volume] in Serum or Plasma by Immunoassay

0.00

0.0

1.0

—

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

0.00

0.0

1.0

—

172.0

—

(36031861) Influenza virus A and B and SARS-CoV-2 (COVID-19) and Respiratory syncytial virus RNA panel - Respiratory system specimen by NAA with probe detection

0.00

0.0

1.3

—

(36033641) SARS-CoV-2 (COVID-19) Ag [Presence] in Upper respiratory specimen by Rapid immunoassay

0.00

0.0

1.4

—

(3015171) Extractable nuclear Ab [Units/volume] in Serum

0.00

0.0

1.6

—

(4034850)

0.00

0.0

6.0

—

(43534045) MCM6 gene c.-13910C>T and -13915T>G [Identifier] in Blood or Tissue by Molecular genetics method Nominal

0.00

0.0

1.0

—

(3000991) Gas panel - Venous blood

0.00

0.0

5.5

—

(3019225) pH of Specimen

0.00

0.0

1.8

—

(3030981) Hyaline casts [#/volume] in Urine by Automated count

0.00

0.0

1.7

—

0.0

—

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

0.00

0.0

1.5

—

(1002224) Polysomnography panel

0.00

0.0

1.1

—

(4035726)

0.00

0.0

1.0

—

(3014007) Fractional oxyhemoglobin in Arterial blood

0.00

0.0

9.3

—

88.5

—

(3005785) Creatine kinase.MB [Mass/volume] in Serum or Plasma

0.00

0.0

2.3

—

3.1

—

(3025130) Human papilloma virus identified in Specimen

0.00

0.0

2.2

—

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

0.00

0.0

2.2

—

(3000067) Parathyrin.intact [Mass/volume] in Serum or Plasma

0.00

0.0

1.1

—

105.5

—

(4010399)

0.00

0.0

1.4

—

Mortality – FinRegistry

↥

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

Relationships between endpoints

↥

Index endpoint: D3_ANGIOEDEMA_2 – Hereditary angioödema type 2

GWS hits: -

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

NAME	D3_ANGIOEDEMA_2
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	D8412
HD_ICD_9
HD_ICD_8
HD_ICD_10_EXCL
HD_ICD_9_EXCL
HD_ICD_8_EXCL
COD_MAINONLY
COD_ICD_10	D8412
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

≡ 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 2

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

Case counts by code for Hereditary angioödema type 2 (D3_ANGIOEDEMA_2)

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