Hereditary lymphedema

Q17_HEREDITARY_LYMPHEDEMA_WIDE

No definition available.

Endpoint definition

↥

Report an error or suggest an improvement for this endpoint codes

Endpoint definition steps	FinnGen
Phenotype data	519972
1. Apply sex-specific rule None	519972
2. Check conditions None	519972
3. Check pre-conditions, main-only, mode, registry filters Registry filters: Primary healthcare outpatient: ICD-10 — Q82.0 Hospital discharge: ICD-10 — Q82.0 Cause of death: ICD-10 — Q82.0 3 out of 7 registries used, show all original rules.	73
4. Check minimum number of events None	73
5. Include endpoints None	73
6. Filter based on genotype QC (FinnGen only)	70

Control definitions (FinnGen only)

Controls for this endpoint are individuals that are not cases.

Extra metadata

First used in FinnGen datafreeze: DF13

NAME	Q17_HEREDITARY_LYMPHEDEMA_WIDE
CONTROL_EXCLUDE
CONTROL_PRECONDITIONS
CONTROL_CONDITIONS
SEX
INCLUDE
PRE_CONDITIONS
CONDITIONS
OUTPAT_ICD	Q820
OUTPAT_OPER
HD_MAINONLY
HD_ICD_10_ATC
HD_ICD_10	Q820
HD_ICD_9
HD_ICD_8
HD_ICD_10_EXCL
HD_ICD_9_EXCL
HD_ICD_8_EXCL
COD_MAINONLY
COD_ICD_10	Q820
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 lymphedema based on the number of shared cases.

Similar with more cases:

Similar with less cases:

Hereditary lymphedema

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	70	51	19
Unadjusted period prevalence (%)	0.02	0.02	0.01
Median age at first event (years)	48.84	47.61	52.13

-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

↥

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
73: Matched controls
730

Code

Vocabulary

Description

Odds Ratio

-log₁₀(p)

N matched cases

N matched controls

Q82.0

ICD-10 Finland

Hereditary lymphoedema

+∞

104.9

I89.0

ICD-10 Finland

Lymphoedema, not elsewhere classified

154.6

21.9

Z31.5

ICD-10 Finland

Genetic counselling

12.9

11.8

C03CA01

ATC

furosemide; systemic

5.1

10.8

129

R60.0

ICD-10 Finland

Localized oedema

6.9

10.8

A46

ICD-10 Finland

Erysipelas

5.5

10.0

QD9S1

NOMESCO Finland

Photography of skin or subcutaneous tissue in lower extremities, unspecified

+∞

9.6

PG1DE

NOMESCO Finland

Other extensive ultrasound examination of artery

13.3

9.4

C03EB01

ATC

furosemide and potassium-sparing agents; systemic

14.1

7.9

QDJ00

NOMESCO Finland

Liposuction in lower extremity

+∞

7.4

R4110

NOMESCO Finland

Physiotherapy

3.9

7.4

115

I87.2

ICD-10 Finland

Venous insufficiency (chronic)(peripheral)

5.1

7.3

R60.9

ICD-10 Finland

Oedema, unspecified

9.9

7.2

R4120

NOMESCO Finland

Occupational therapy

8.3

7.0

J01CE08

ATC

benzathine benzylpenicillin; parenteral

29.5

6.4

Q82.2

ICD-10 Finland

Mastocytosis

+∞

6.3

PJW20

NOMESCO Finland

Lymphovenous shunt

+∞

6.3

LabWAS

↥

N Cases

N Controls

-log₁₀(p)

cases

controls

cases

controls

unit

-log₁₀(p)

N cases

N controls

(3023368) Bacteria identified in Blood by Culture

140

3.29

5.68

8.9

4.4

—

(3000494) Fungus identified in Specimen by Culture

3.40

4.64

1.5

1.4

—

(3051714) Fibrin D-dimer FEU [Mass/volume] in Platelet poor plasma

135

2.90

4.46

2.1

1.9

1.61

0.72

mg/l

0.76

106

(3052851) Hemolysis interference index of Serum or Plasma

5.92

3.99

4.8

2.8

—

(3000991) Gas panel - Venous blood

4.19

3.97

6.4

7.1

—

(3013527) Hepatitis B virus core IgM Ab [Presence] in Serum

9.52

3.86

1.4

1.3

—

(3018418) pH of Serum or Plasma

148

2.59

3.62

6.5

4.4

7.41

—

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

2.82

3.33

3.2

3.3

2.51

3.97

e6/l

—

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

195

2.39

3.25

4.5

2.9

—

(3029187) Natriuretic peptide.B prohormone N-Terminal [Mass/volume] in Serum or Plasma

155

2.45

3.23

3.0

2.7

2532.87

1002.38

ng/l

0.77

122

(3018095) Leukocytes [#/volume] in Urine

196

2.38

3.20

4.9

3.7

45.82

53.91

e6/l

0.08

128

(46237023) Hepatitis B virus core and surface Ab and surface Ag panel - Serum

5.47

3.15

1.8

1.2

—

(3043362) Influenza virus B Ag [Presence] in Nasopharynx by Immunoassay

6.32

3.10

1.7

1.3

—

(3046524) Influenza virus A Ag [Presence] in Nasopharynx by Immunoassay

6.32

3.10

1.7

1.3

—

(3021337) Troponin I.cardiac [Mass/volume] in Serum or Plasma

2.60

3.08

3.1

3.3

28.00

58.85

ng/l

0.73

(3007853) Bacteria identified in Skin by Aerobe culture

2.94

3.01

3.2

1.5

—

(3030467) Casts [#/volume] in Urine by Automated count

153

2.35

2.93

4.9

3.2

0.91

0.39

e6/l

0.35

109

(3009201) Thyrotropin [Units/volume] in Serum or Plasma

568

3.87

2.90

6.3

4.7

2.06

1.83

mu/l

0.79

511

(36304419) Bacteria [Presence] in Urine

154

2.33

2.88

4.7

2.9

—

(3051611) Lipemic interference index of Serum or Plasma

8.82

2.79

5.2

1.7

—

(3002582) Erythrocytes [#/volume] in Urine

167

2.22

2.64

4.9

3.2

25.84

28.96

e6/l

0.09

120

(3008486) Thyroxine (T4) free [Moles/volume] in Serum or Plasma

476

2.71

2.64

5.0

4.1

14.87

14.73

pmol/l

0.14

425

(3002032) Base excess in Venous blood by calculation

2.93

2.50

7.7

4.4

0.30

1.89

mmol/l

0.91

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

171

2.15

2.47

2.2

701.00

246.71

u/l

0.43

165

(40764999) Glomerular filtration rate/1.73 sq M.predicted [Volume Rate/Area] in Serum, Plasma or Blood by Creatinine-based formula (CKD-EPI)

570

3.13

2.41

22.7

12.2

85.01

83.58

ml/min/173m2

0.16

453

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

2.39

2.36

3.2

3.1

1.11

0.94

e6/l

—

(3022145) Colonoscopy Study observation

2.56

2.24

1.1

1.3

—

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

215

1.98

2.09

2.5

1.9

90.16

97.93

pmol/l

0.43

100

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

2.51

2.05

3.3

3.4

—

(3016431) Calcium.ionized [Moles/volume] adjusted to pH 7.4 in Serum or Plasma

243

1.95

2.05

9.8

6.4

1.20

1.21

mmol/l

0.32

202

(3013115) Eosinophils [#/volume] in Blood

300

1.94

2.01

10.4

5.4

0.17

e9/l

0.07

264

(3023511) Choriogonadotropin [Units/volume] in Urine

3.99

1.98

1.5

1.3

—

(3024928) Oxygen saturation in Venous blood

4.79

1.97

6.8

3.9

—

(3002385) Erythrocyte distribution width [Ratio]

525

2.46

1.92

33.4

15.6

14.18

14.73

0.54

514

(40760892) CBC W Ordered Manual Differential panel - Blood

275

1.90

1.91

9.1

6.4

—

(40768797) Stomach Pathology biopsy report

2.26

1.86

1.4

1.3

—

(3013139) Helicobacter pylori Ag [Presence] in Stool

2.97

1.85

1.1

1.3

—

(3005229) Alpha 2 globulin [Mass/volume] in Serum or Plasma by Electrophoresis

3.25

1.85

1.0

1.3

6.69

7.71

g/l

—

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

3.25

1.85

1.0

1.3

—

(3043747) Beta 2 globulin [Mass/volume] in Serum or Plasma by Electrophoresis

3.25

1.85

1.0

1.3

4.04

3.79

g/l

—

(3024891) Influenza virus A+B Ag [Presence] in Specimen

3.53

1.78

1.7

1.2

—

(3029379) Protein.monoclonal band 4 [Mass/volume] in Serum or Plasma by Electrophoresis

3.53

1.78

1.0

1.2

0.00

g/l

—

(3029338) Protein.monoclonal band 3 [Mass/volume] in Serum or Plasma by Electrophoresis

3.53

1.78

1.0

1.2

0.00

g/l

—

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

147

1.94

1.77

1.6

—

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

4.04

1.74

1.4

3.3

—

(3019198) Lymphocytes [#/volume] in Blood

300

1.84

1.74

10.1

5.2

1.91

1.79

e9/l

0.37

268

(3031040) Bacteria [#/volume] in Urine by Automated count

390

1.90

1.72

7.8

4.1

—

33.75

—

(3035797) Protein.monoclonal band 2 [Mass/volume] in Serum or Plasma by Electrophoresis

3.34

1.70

1.0

1.2

0.00

g/l

—

(3006315) Basophils [#/volume] in Blood

292

1.82

1.69

10.1

5.3

0.04

e9/l

0.65

252

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

2.98

1.69

6.1

4.1

24.90

24.26

mmol/l

—

(3001604) Monocytes [#/volume] in Blood

294

1.80

1.64

10.1

5.2

0.61

0.54

e9/l

0.87

255

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

3.17

1.61

1.0

1.2

0.00

1.05

g/l

—

(3028286) Albumin [Mass/volume] in Serum or Plasma by Electrophoresis

3.17

1.61

1.0

1.2

38.23

37.37

g/l

—

(3044889) 12 lead EKG panel

405

1.86

1.60

4.6

3.5

—

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

2.24

1.54

2.3

1.7

—

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

137

1.87

1.52

3.2

—

(3042936) Bacteria identified in Isolate by Culture

2.04

1.49

3.1

1.6

—

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

2.20

1.48

2.3

1.8

—

(3015322) Alpha 1 globulin [Mass/volume] in Serum or Plasma by Electrophoresis

2.88

1.46

1.0

1.3

3.18

3.19

g/l

—

(3026008) Bacteria identified in Urine by Culture

183

1.75

1.41

5.1

2.6

—

(3024889) Methemoglobin/Hemoglobin.total in Venous blood

2.75

1.40

5.7

2.9

0.52

0.67

—

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

1.95

1.39

2.3

2.0

—

(3034770) Mitochondria Ab [Titer] in Serum

3.08

1.38

1.2

1.3

—

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

2.26

1.35

1.6

1.5

—

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

2.44

1.31

1.1

1.4

—

(3010517) Carboxyhemoglobin/Hemoglobin.total in Venous blood

2.52

1.27

5.7

2.8

0.75

1.54

—

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

120

1.79

1.24

1.6

1.7

—

(3021589) Normoblasts [#/volume] in Blood

265

1.62

1.18

17.3

9.4

0.00

e9/l

0.50

214

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

2.61

1.17

3.0

1.9

—

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

343

1.62

1.16

12.3

10.3

5.01

3.94

e9/l

1.53

296

(3044640) Blood type and Crossmatch panel - Blood

183

1.65

1.16

3.1

2.2

—

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

140

1.70

1.14

1.4

1.2

2.16

0.67

u/ml

—

(40762366) Oxygen capacity [Volume Fraction] in Arterial blood

2.39

1.14

4.1

6.3

—

(3000330) Specific gravity of Urine by Test strip

2.31

1.11

2.1

3.4

—

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

2.48

1.11

1.2

—

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

2.48

1.11

1.2

—

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

2.48

1.11

1.2

—

(3014576) Chloride [Moles/volume] in Serum or Plasma

1.98

1.10

7.1

5.1

106.09

103.90

mmol/l

0.65

(3017143) Hepatitis C virus Ab [Presence] in Serum

1.80

1.03

1.4

1.5

—

(3004588) Protein electrophoresis panel - Serum or Plasma

2.10

1.03

1.0

2.2

—

(40768443) Skin Pathology biopsy report

2.24

0.94

1.0

1.3

—

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

2.09

0.89

6.3

3.1

128.00

131.03

g/l

—

(3023103) Potassium [Moles/volume] in Serum or Plasma

609

1.87

0.88

30.2

14.3

3.97

3.95

mmol/l

0.23

590

(3022217) INR in Platelet poor plasma by Coagulation assay

260

1.49

0.87

18.0

13.2

1.23

1.15

inr

0.23

(3051552) Clostridioides difficile toxin genes [Presence] in Stool by NAA with probe detection

2.02

0.86

1.7

1.8

—

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

133

1.58

0.85

3.1

2.2

—

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

134

1.56

0.82

1.4

1.3

3.84

2.19

g/l

0.84

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

2.16

0.76

1.2

1.3

—

(36660697) Celiac disease serology panel - Serum

1.69

0.76

1.0

1.1

—

(3019800) Troponin T.cardiac [Mass/volume] in Serum or Plasma

219

1.45

0.75

5.0

3.6

52.20

22.57

ng/l

0.60

149

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

2.07

0.74

2.2

1.6

3.08

2.48

mg/l

—

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

138

1.51

0.72

1.7

1.8

—

(3045414) Leukocytes [Presence] in Urine

1.99

0.72

1.2

1.8

—

(1002224) Polysomnography panel

1.99

0.72

1.0

—

(3021601) Nitrite [Presence] in Urine by Test strip

308

1.41

0.69

5.9

4.6

0.00

estimate

—

(4200892) Spirometry reversibility

1.69

0.69

1.1

—

(3035350) Ketones [Presence] in Urine by Test strip

309

1.40

0.68

4.0

3.4

0.00

estimate

—

(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

1.84

0.67

1.8

1.5

—

(586526) SARS-CoV-2 (COVID-19) RNA [Presence] in Nasopharynx by NAA with probe detection

1.84

0.67

1.4

1.3

—

(3014007) Fractional oxyhemoglobin in Arterial blood

1.84

0.67

3.2

5.9

95.68

95.45

—

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

272

1.39

0.64

3.0

2.5

—

(3009261) Glucose [Presence] in Urine by Test strip

311

1.38

0.64

4.0

3.4

0.00

estimate

—

(3019550) Sodium [Moles/volume] in Serum or Plasma

609

1.61

0.61

30.3

14.1

138.97

139.78

mmol/l

2.74

591

(3020321) Streptococcus agalactiae [Presence] in Vaginal fluid by Organism specific culture

0.00

0.60

0.0

1.5

—

(3000570) Elastase.pancreatic [Mass/mass] in Stool

0.00

0.59

0.0

1.3

—

255.52

—

(40768793) Breast Pathology biopsy report

0.00

0.59

0.0

1.3

—

(3015377) Calcium [Moles/volume] in Serum or Plasma

201

1.37

0.55

2.8

3.3

2.31

2.35

mmol/l

0.80

178

(3026910) Gamma glutamyl transferase [Enzymatic activity/volume] in Serum or Plasma

428

1.35

0.54

3.8

2.8

70.86

43.84

u/l

0.69

402

(3002256) Pathology report gross observation

1.52

0.47

2.0

1.2

—

(3037467) Urinalysis macro (dipstick) panel - Urine

423

1.31

0.46

7.2

4.0

—

(3004410) Hemoglobin A1c/Hemoglobin.total in Blood

549

1.39

0.45

6.4

5.1

40.95

38.99

mmol/mol

0.47

512

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

426

1.29

0.42

3.4

3.6

—

(3043409) Potassium [Moles/volume] in Arterial blood

0.00

0.41

0.0

3.0

—

3.81

—

(4094501) Cardiovascular stress test using bicycle ergometer

0.00

0.41

0.0

1.2

—

(3016921) Smith extractable nuclear Ab [Units/volume] in Serum

0.00

0.41

0.0

1.3

—

4.14

—

(3006588) Cancer Ag 15-3 [Units/volume] in Serum or Plasma

0.00

0.41

0.0

3.6

—

65.17

—

(42529201) Cancer Ag 19-9 [Units/volume] in Serum or Plasma by Immunoassay

0.00

0.41

0.0

4.4

—

29.69

—

(3006999) Ribonucleoprotein extractable nuclear Ab [Units/volume] in Serum

0.00

0.41

0.0

1.3

—

15.93

—

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

1.50

0.41

1.2

2.0

—

(3009508) Creatinine [Moles/volume] in Urine

172

1.31

0.40

3.6

2.7

8.74

7.99

mmol/l

0.13

138

(1002102) Choriogonadotropin.intact+Beta subunit [Mass/volume] in Serum or Plasma

0.00

0.40

0.0

1.5

—

(40761511) CBC panel - Blood by Automated count

641

1.55

0.35

20.8

12.2

—

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

1.36

0.34

1.8

2.1

13.07

3.72

ug/l

—

(3019832) Treponema pallidum Ab [Presence] in Serum

1.38

0.34

1.1

1.6

—

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

1.41

0.33

1.7

1.5

—

(40758558) Short blood count panel - Blood

151

1.25

0.28

15.4

7.5

—

(21494755) Public health laboratory ask at order entry panel

1.24

0.28

1.4

1.3

—

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

241

1.19

0.24

4.6

3.3

—

(46236952) Glomerular filtration rate/1.73 sq M.predicted [Volume Rate/Area] in Serum, Plasma or Blood by Creatinine-based formula (MDRD)

1.30

0.23

1.0

3.4

—

63.06

—

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

1.24

0.22

1.2

1.4

—

(3029937) Albumin [Presence] in Urine by Test strip

165

0.81

0.22

5.1

3.7

0.17

0.00

estimate

—

(3020682) Albumin/Creatinine [Ratio] in Urine

165

1.20

0.22

4.8

3.5

34.32

10.60

mg/mmol

0.45

(3025130) Human papilloma virus identified in Specimen

0.00

0.21

0.0

1.8

—

(3020148) Glutamate decarboxylase 65 Ab [Units/volume] in Serum

0.00

0.21

0.0

1.0

—

(3039443) Prostate specific Ag panel - Serum or Plasma

0.00

0.21

0.0

1.6

—

(3015916) Alpha-1-Fetoprotein [Units/volume] in Serum or Plasma

0.00

0.21

0.0

1.8

—

9.47

—

(3036086) Jo-1 extractable nuclear Ab [Units/volume] in Serum by Immunoassay

0.00

0.20

0.0

1.1

—

(40761536) Microorganisms panel - Urine sediment

1.17

0.19

6.2

3.9

—

(1761868) Lipid panel - Serum or Plasma

229

1.14

0.15

3.0

2.7

—

(3013603) Prostate specific Ag [Mass/volume] in Serum or Plasma

128

0.83

0.15

4.6

3.72

2.08

ug/l

0.73

113

(3013512) EKG study

168

0.87

0.13

6.2

3.7

—

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

163

1.14

0.12

1.1

1.6

—

(3012516) Albumin [Mass/volume] in Urine

154

1.14

0.11

3.7

2.9

210.97

513.70

mg/l

—

(3041096) Erythrocytes [Presence] in Urine by Automated

185

1.11

0.09

3.8

3.0

—

(3022621) pH of Urine by Test strip

1.04

0.09

1.6

2.1

—

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

1.04

0.09

1.8

1.5

—

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

1.06

0.09

1.8

1.9

—

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

1.16

0.08

1.4

1.8

—

(43054914) Glucose tolerance 2 hours panel - Serum or Plasma

1.07

0.08

2.1

1.8

—

(40768804) Tissue Pathology biopsy report

258

0.95

0.02

2.9

1.9

—

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

116

0.94

0.01

1.3

1.4

—

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

1.04

0.00

2.2

1.9

—

(44816752) ERBB2 gene copy number/nucleus in Tissue by FISH

0.00

-0.00

0.0

1.1

—

(40759812) SCL-70 extractable nuclear Ab [Presence] in Serum by Immunoblot

0.00

-0.00

0.0

1.3

—

(40759843) Sjogrens syndrome-A extractable nuclear Ab [Presence] in Serum by Immunoblot

0.00

-0.00

0.0

1.3

—

(40762119) U1 small nuclear ribonucleoprotein 70kD Ab [Units/volume] in Serum

0.00

-0.00

0.0

1.0

—

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

0.00

-0.00

0.0

5.7

—

127.86

—

(4281824) Cell count and differential, peritoneal fluid

0.00

-0.00

0.0

1.0

—

(3025018) Bordetella pertussis Ab [Titer] in Serum

0.00

-0.00

0.0

1.2

—

(3033319) Streptococcus pyogenes Ag [Presence] in Throat

0.93

-0.00

1.0

1.6

—

(3024474) Albumin [Mass/volume] in Cerebral spinal fluid

0.00

-0.00

0.0

1.0

—

283.00

—

(3019897) Erythrocyte distribution width [Ratio] by Automated count

0.00

-0.00

0.0

1.3

—

13.00

—

(3011831) Apolipoprotein B/Apolipoprotein A-I [Percentile]

0.00

-0.00

0.0

1.4

—

(3019539) Treponema pallidum Ab [Titer] in Serum by Hemagglutination

0.00

-0.00

0.0

2.0

—

(3035933) Granulocytes/100 leukocytes in Blood

0.00

-0.00

0.0

1.0

—

(3041642) Human coronavirus 229E RNA [Presence] in Specimen by NAA with probe detection

0.00

-0.00

0.0

2.2

—

(43055089) Myosin Ab [Presence] in Serum or Plasma by Immunoblot

0.00

-0.00

0.0

1.0

—

(3040359) Human coronavirus NL63 RNA [Presence] in Specimen by NAA with probe detection

0.00

-0.00

0.0

2.2

—

(40759842) Ribonucleoprotein extractable nuclear Ab [Presence] in Serum by Immunoblot

0.00

-0.00

0.0

1.3

—

(40766800) Mycobacterium tuberculosis stimulated gamma interferon release by CD4+ T-cells [Units/volume] corrected for background in Blood

0.00

-0.00

0.0

1.0

—

(3029634) Reagin Ab [Titer] in Serum by VDRL

0.00

-0.00

0.0

2.3

—

(3010380) Borrelia burgdorferi IgG Ab [Units/volume] in Cerebral spinal fluid

0.00

-0.00

0.0

1.3

—

(3016881) Enterovirus RNA [Presence] in Specimen by NAA with probe detection

0.00

-0.00

0.0

2.6

—

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

0.00

-0.00

0.0

1.3

—

(3025023) Rhinovirus RNA [Presence] in Specimen by NAA with probe detection

0.00

-0.00

0.0

2.6

—

(40763324) Parainfluenza virus 1 RNA [Presence] in Isolate by NAA with probe detection

0.00

-0.00

0.0

2.2

—

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

0.87

-0.00

6.3

7.5

—

(3039162) Centromere protein B Ab [Units/volume] in Serum

0.00

-0.00

0.0

1.1

—

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

0.00

-0.00

0.0

1.0

—

(3007368) IgG [Mass/volume] in Cerebral spinal fluid

0.00

-0.00

0.0

1.0

—

39.47

—

(40759844) Sjogrens syndrome-B extractable nuclear Ab [Presence] in Serum by Immunoblot

0.00

-0.00

0.0

1.3

—

(3053028) Streptococcus sp identified in Specimen by Organism specific culture

0.00

-0.00

0.0

1.0

—

(3011166) Borrelia burgdorferi Ab [Presence] in Cerebral spinal fluid

0.00

-0.00

0.0

1.3

—

(3006257) Acetylcholine receptor Ab [Moles/volume] in Serum

0.00

-0.00

0.0

1.3

—

(3044290) Cell count panel - Cerebral spinal fluid

0.00

-0.00

0.0

1.3

—

(3038546) Human coronavirus OC43 RNA [Presence] in Specimen by NAA with probe detection

0.00

-0.00

0.0

2.2

—

(3006442) Creatine [Moles/volume] in Serum or Plasma

0.00

-0.00

0.0

2.1

—

65.71

—

(1617658) Protocol used for examination of sentinel lymph nodes

0.00

-0.00

0.0

1.0

—

(3007798) IgG/Albumin [Mass Ratio] in Cerebral spinal fluid

0.00

-0.00

0.0

1.2

—

(3045788) Cell count panel - Pleural fluid

0.00

-0.00

0.0

1.2

—

(40759836) Histone Ab [Presence] in Serum by Immunoblot

0.00

-0.00

0.0

1.3

—

(40763470) Parainfluenza virus 4 RNA [Presence] in Isolate by NAA with probe detection

0.00

-0.00

0.0

2.2

—

(3012158) Parainfluenza virus 2 RNA [Presence] in Specimen by NAA with probe detection

0.00

-0.00

0.0

2.0

—

(3006262) Parainfluenza virus 3 RNA [Presence] in Specimen by NAA with probe detection

0.00

-0.00

0.0

2.0

—

(44816844) Macroprolactin [Units/volume] in Serum or Plasma

0.00

-0.00

0.0

1.0

—

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

0.00

-0.00

0.0

1.0

—

(40768441) Liver Pathology biopsy report

0.00

-0.00

0.0

1.0

—

(40759849) Smith extractable nuclear Ab [Presence] in Serum by Immunoblot

0.00

-0.00

0.0

1.3

—

(3049506) Microalbumin [Mass/time] in Urine collected for unspecified duration

0.00

-0.00

0.0

1.8

—

(3048469) 10-Hydroxycarbazepine [Moles/volume] in Serum or Plasma

0.00

-0.00

0.0

2.4

—

67.60

—

(3035999) Lactate [Moles/volume] in Cerebral spinal fluid

0.00

-0.00

0.0

1.4

—

1.68

—

(3026389) Candida sp identified in Specimen by Organism specific culture

0.00

-0.00

0.0

1.0

—

(3023410) Appearance of Cerebral spinal fluid

0.00

-0.00

0.0

1.4

—

Mortality – FinRegistry

↥

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

Relationships between endpoints

↥

Index endpoint: Q17_HEREDITARY_LYMPHEDEMA_WIDE – Hereditary lymphedema

GWS hits: -

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

≡ Risteys

R13

FinnGen R12 + FinRegistry

FinnGen R11 + FinRegistry

FinnGen R10 + FinRegistry

FinnGen R10

FinnGen R9

FinnGen R8

FinnGen R7

FinnGen R6

FinnGen R5

FinnGen R4

FinnGen R3

Hereditary lymphedema

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 lymphedema (Q17_HEREDITARY_LYMPHEDEMA_WIDE)

Summary Statistics

-FinRegistry-

-FinnGen-

Key figures

-FinnGen-

Age distribution of first events

-FinnGen-

Year distribution of first events

-FinnGen-

Cumulative Incidence Function

CodeWAS

Matched cohort

LabWAS

Mortality – FinRegistry

Relationships between endpoints