Hereditary lymphedema, including avohilmo

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	557745
1. Apply sex-specific rule None	557745
2. Check conditions None	557745
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.	80
4. Check minimum number of events None	80
5. Include endpoints None	80
6. Filter based on genotype QC (FinnGen only)	72

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, including avohilmo 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	72	54	18
Unadjusted period prevalence (%)	0.02	0.02	0.01
Median age at first event (years)	51.06	50.65	52.30

-FinnGen-

Age distribution of first events

-FinnGen-

Year distribution of first events

-FinnGen-

Cumulative Incidence Function

No data

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
76: Matched controls
760

Code

Vocabulary

Description

Odds Ratio

-log₁₀(p)

N matched cases

N matched controls

Q82.0

ICD-10 Finland

Hereditary lymphoedema

+∞

109.3

I89.0

ICD-10 Finland

Lymphoedema, not elsewhere classified

152.2

21.9

A46

ICD-10 Finland

Erysipelas

5.9

11.9

C03CA01

ATC

furosemide; systemic

5.0

11.0

139

Z31.5

ICD-10 Finland

Genetic counselling

9.9

10.3

QD9S1

NOMESCO Finland

Photography of skin or subcutaneous tissue in lower extremities, unspecified

+∞

9.6

R60.9

ICD-10 Finland

Oedema, unspecified

10.6

8.9

R60.0

ICD-10 Finland

Localized oedema

5.1

8.6

PG1DE

NOMESCO Finland

Other extensive ultrasound examination of artery

10.3

8.3

C03EB01

ATC

furosemide and potassium-sparing agents; systemic

13.9

7.9

QDJ00

NOMESCO Finland

Liposuction in lower extremity

+∞

7.4

R4110

NOMESCO Finland

Physiotherapy

3.7

7.1

124

A08

ICPC

Swelling

7.8

6.7

J01DB01

ATC

cefalexin; oral

9.3

6.5

550

I87.2

ICD-10 Finland

Venous insufficiency (chronic)(peripheral)

4.2

6.4

J01CE08

ATC

benzathine benzylpenicillin; parenteral

29.4

6.4

Q82.2

ICD-10 Finland

Mastocytosis

+∞

6.3

PJW20

NOMESCO Finland

Lymphovenous shunt

+∞

6.3

R4120

NOMESCO Finland

Occupational therapy

6.9

6.2

ZXE10

NOMESCO Finland

More than one and less than three hours

3.3

6.1

170

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

171

3.10

5.48

10.5

4.7

—

(3000494) Fungus identified in Specimen by Culture

3.31

5.09

1.5

1.6

—

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

163

2.96

5.00

2.1

1.9

1.36

1.13

mg/l

0.15

133

(3018095) Leukocytes [#/volume] in Urine

243

2.77

4.54

4.7

4.2

62.23

46.16

e6/l

0.18

161

(3000991) Gas panel - Venous blood

3.71

4.51

6.0

11.3

—

(3052851) Hemolysis interference index of Serum or Plasma

5.58

3.84

4.9

3.0

2.80

3.75

index

—

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

183

2.55

3.80

4.8

3.3

0.85

0.40

e6/l

0.38

128

(40771025) 25-Hydroxyvitamin D3+25-Hydroxyvitamin D2 [Moles/volume] in Serum or Plasma

292

2.46

3.53

3.8

2.7

77.22

77.52

nmol/l

0.02

263

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

231

2.41

3.48

4.6

3.2

—

(3018418) pH of Serum or Plasma

182

2.44

3.44

7.0

4.5

7.40

0.50

130

(3022145) Colonoscopy Study observation

2.83

3.39

1.2

1.3

—

(42870588) Differential panel, method unspecified - Blood

217

2.37

3.34

10.1

5.9

—

(3007853) Bacteria identified in Skin by Aerobe culture

2.83

3.27

3.0

1.6

—

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

2.64

3.20

3.4

3.5

5.65

3.86

e6/l

0.20

(36304419) Bacteria [Presence] in Urine

179

2.36

3.19

4.8

3.1

—

estimate

—

(3007628) Bicarbonate [Moles/volume] standard in Venous blood

3.65

3.10

7.6

5.1

23.14

24.08

mmol/l

0.57

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

6.30

3.09

2.0

1.3

—

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

6.30

3.09

2.0

1.3

—

(3002582) Erythrocytes [#/volume] in Urine

215

2.28

3.06

4.7

3.4

35.26

29.92

e6/l

0.14

156

(3002385) Erythrocyte [DistWidth] in Red Blood Cells

557

3.09

2.88

38.2

19.0

13.83

13.58

0.64

549

(40768797) Stomach Pathology biopsy report

2.58

2.87

1.6

1.2

—

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

2.67

2.83

2.3

2.0

—

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

4.70

2.54

1.6

1.2

—

(3036481) Cortisol [Moles/volume] in Serum or Plasma

2.55

2.48

2.3

2.2

320.00

418.82

nmol/l

1.05

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

2.48

2.47

2.3

1.9

—

(3002032) Base excess in Venous blood by calculation

2.68

2.46

7.6

4.4

0.63

1.47

mmol/l

0.38

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

444

2.29

2.45

8.2

4.6

—

35.00

—

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

3.94

2.44

1.9

1.2

—

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

148

2.15

2.39

3.9

2.8

6.81

6.14

e6/l

0.12

135

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

3.23

2.38

4.8

11.2

24.03

24.19

mmol/l

—

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

119

2.19

2.28

4.5

3.5

23.17

158.28

ng/l

1.03

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

112

2.21

2.25

2.3

2.1

—

(3021447) Carbon dioxide [Partial pressure] in Venous blood

2.54

2.24

7.6

4.3

5.74

5.62

kpa

0.18

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

105

2.23

2.22

3.5

3.4

3.18

0.91

e6/l

0.48

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

2.28

2.17

2.9

3.1

20.17

24.90

0.89

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

533

2.52

2.16

5.8

4.7

14.77

14.75

pmol/l

0.03

482

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

294

1.96

2.14

10.1

7.6

1.20

1.21

mmol/l

0.20

250

(37019628) Gastrointestinal bacterial pathogens panel - Stool by NAA with probe detection

4.24

2.08

1.0

1.7

—

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

2.55

1.99

5.8

8.9

1.28

1.16

mmol/l

0.26

(3023511) Choriogonadotropin [Units/volume] in Urine

3.98

1.97

1.7

1.4

—

(3024928) Oxygen saturation in Venous blood

3.98

1.97

5.8

4.3

68.88

64.13

—

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

209

1.92

1.96

2.1

2.2

644.81

210.34

u/l

0.47

202

(3026008) Bacteria identified in Urine by Culture

219

1.90

1.92

5.2

2.8

—

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

283

1.87

1.91

2.6

2.1

90.89

99.70

pmol/l

0.59

131

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

2.78

1.87

1.1

1.4

—

(3001788) Aldosterone [Moles/volume] in Serum or Plasma

4.38

1.85

2.6

1.1

678.60

231.33

pmol/l

—

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

2.96

1.85

1.0

1.6

3.91

3.79

g/l

—

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

2.96

1.85

1.0

1.6

4.33

4.18

g/l

—

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

2.96

1.85

1.0

1.6

6.76

7.63

g/l

—

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

3.24

1.85

1.0

1.2

0.00

g/l

—

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

3.24

1.85

1.0

1.2

0.00

g/l

—

(3042936) Bacteria identified in Isolate by Culture

2.10

1.81

3.3

1.8

—

(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

2.70

1.81

1.7

1.5

—

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

3.10

1.77

1.0

1.2

0.00

g/l

—

(3004383) Neutrophil cytoplasmic Ab.classic [Titer] in Serum by Immunofluorescence

4.04

1.74

1.2

—

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

4.04

1.74

1.4

3.3

—

(3013115) Eosinophils [#/volume] in Blood

357

1.83

1.73

11.5

6.0

0.17

0.18

e9/l

0.10

310

(3044640) Blood type and Crossmatch panel - Blood

208

1.83

1.71

2.9

2.6

—

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

2.86

1.62

1.0

1.5

0.00

0.88

g/l

—

(3024354) Oxygen [Partial pressure] in Venous blood

2.35

1.59

6.7

3.3

6.20

4.45

kpa

0.53

(3049804) Myeloperoxidase IgG Ab [Units/volume] in Serum

3.49

1.55

1.2

1.3

—

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

3.01

1.54

1.2

—

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

3.01

1.54

1.2

—

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

3.01

1.54

1.2

—

(3013139) Helicobacter pylori Ag [Presence] in Stool

2.55

1.52

1.1

1.3

—

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

1.97

1.50

1.5

—

(3013721) Aspartate aminotransferase [Enzymatic activity/volume] in Serum or Plasma

224

1.74

1.50

5.1

3.1

36.15

29.15

u/l

0.47

211

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

2.65

1.49

1.0

1.6

3.14

3.24

g/l

—

(3015399) Transferrin receptor.soluble [Mass/volume] in Serum or Plasma

163

1.80

1.48

2.5

2.2

2.53

2.96

mg/l

0.58

143

(3015736) pH of Urine

299

1.71

1.48

3.6

3.5

6.22

6.17

0.09

172

(3019198) Lymphocytes [#/volume] in Blood

358

1.72

1.46

11.3

5.8

2.00

1.89

e9/l

0.29

315

(3003327) Ova and parasites identified in Stool by Light microscopy

2.55

1.43

1.0

1.3

—

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

2.15

1.42

1.6

1.5

—

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

255

1.69

1.40

4.8

3.7

54.38

22.23

ng/l

0.81

174

(3006315) Basophils [#/volume] in Blood

351

1.69

1.39

11.5

5.8

0.05

0.04

e9/l

1.03

296

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

166

1.75

1.39

1.8

1.7

—

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

2.07

1.38

3.6

3.4

—

(3001604) Monocytes [#/volume] in Blood

352

1.68

1.37

11.4

5.8

0.62

0.54

e9/l

1.16

299

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

176

1.73

1.35

1.5

1.2

1.92

1.54

u/ml

—

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

159

1.74

1.34

1.7

1.9

—

(40768443) Skin Pathology biopsy report

2.51

1.34

1.0

1.2

—

(36660697) Celiac disease serology panel - Serum

2.03

1.34

1.0

1.1

—

(3001334) Neutrophil cytoplasmic Ab [Units/volume] in Serum

2.62

1.33

1.3

—

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

168

1.73

1.33

1.4

1.3

3.43

2.13

g/l

0.80

102

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

2.90

1.30

1.8

1.2

—

(3021589) Normoblasts [#/volume] in Blood

309

1.62

1.24

19.7

11.5

0.00

e9/l

0.50

245

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

138

1.72

1.19

1.7

—

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

635

2.29

1.18

27.3

14.7

83.68

82.67

ml/min/173m2

0.12

584

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

2.12

1.16

2.6

1.8

—

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

2.46

1.16

1.1

1.3

—

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

149

1.67

1.12

3.0

2.5

—

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

374

1.58

1.11

4.3

3.9

0.00

estimate

-0.00

(3003191) Choriogonadotropin [Presence] in Serum or Plasma

2.47

1.11

3.0

2.0

—

(3034770) Mitochondria Ab [Titer] in Serum

2.47

1.11

1.2

1.3

—

(3004588) Protein electrophoresis panel - Serum or Plasma

2.13

1.09

1.0

2.2

—

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

133

1.68

1.09

1.5

1.3

20.88

9.09

u/ml

—

(3032080) INR in Blood by Coagulation assay

297

1.56

1.08

20.6

13.5

1.23

1.19

inr

0.17

242

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

376

1.57

1.07

4.3

3.9

137.08

0.00

estimate

0.47

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

378

1.55

1.03

4.4

3.9

0.20

0.00

estimate

—

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

390

1.54

0.99

13.4

11.0

5.04

3.91

e9/l

1.48

335

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

2.24

0.94

1.3

—

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

230

1.50

0.89

2.7

3.3

2.31

2.35

mmol/l

1.16

214

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

1.73

0.88

6.9

7.9

104.92

104.52

mmol/l

0.09

(40760892) CBC W Ordered Manual Differential panel - Blood

168

1.53

0.85

4.1

5.3

—

(40758558) Short blood count panel - Blood

206

1.48

0.81

11.2

6.9

—

(3011288) Drugs identified in Urine by Screen method Nominal

2.25

0.77

1.0

1.1

—

(3019832) Treponema pallidum Ab [Presence] in Serum

1.62

0.76

1.1

1.6

—

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

305

1.42

0.73

3.1

2.8

—

estimate

—

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

1.78

0.72

1.0

1.1

—

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

1.99

0.72

2.2

1.6

3.08

2.34

mg/l

—

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

657

1.83

0.68

36.9

17.7

3.97

3.95

mmol/l

0.31

645

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

656

1.85

0.68

36.6

17.5

139.03

139.79

mmol/l

2.69

646

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

481

1.42

0.65

4.0

3.1

63.14

43.10

u/l

0.63

458

(1001926) Buprenorphine [Presence] in Urine by Screen method

1.71

0.62

1.0

1.3

—

(3024889) Methemoglobin/Hemoglobin.total in Venous blood

1.77

0.59

6.5

3.1

0.52

0.60

—

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

0.00

0.59

0.0

1.4

—

(3009343) pH of Capillary blood

1.72

0.58

2.3

3.0

7.40

7.44

—

(3010517) Carboxyhemoglobin/Hemoglobin.total in Venous blood

1.72

0.58

6.7

3.1

0.77

1.46

—

(3022621) pH of Urine by Test strip

1.59

0.56

1.9

4.60

5.92

—

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

1.63

0.56

6.5

3.2

128.00

132.50

g/l

—

(1002224) Polysomnography panel

1.63

0.56

1.2

1.1

—

(3014007) Fractional oxyhemoglobin in Arterial blood

1.54

0.53

2.8

10.8

95.23

93.88

—

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

1.46

0.50

1.3

1.9

—

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

451

1.32

0.48

3.6

—

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

1.44

0.46

1.4

1.6

—

(4010399) Spirometry for bronchospasm with prolonged evaluation after bronchodilator

1.45

0.44

1.6

1.1

—

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

1.40

0.42

2.0

1.7

—

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

1.55

0.42

1.8

1.1

0.72

0.82

g/l

—

(3009508) Creatinine [Moles/volume] in Urine

228

1.29

0.41

3.4

2.9

7.11

7.88

mmol/l

0.24

185

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

0.00

0.41

0.0

3.6

—

59.44

—

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

0.00

0.41

0.0

3.1

—

3.85

—

(3025130) Human papilloma virus identified in Specimen

0.00

0.41

0.0

1.7

—

(4094501) Cardiovascular stress test using bicycle ergometer

0.00

0.40

0.0

1.2

—

(3028300) Cannabinoids [Presence] in Urine

1.46

0.40

1.0

1.3

—

(3016879) Cocaine [Presence] in Urine

1.46

0.40

1.0

1.3

—

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

0.00

0.39

0.0

1.5

—

50.37

—

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

0.00

0.39

0.0

4.2

—

26.48

—

(21494755) Public health laboratory ask at order entry panel

1.34

0.39

1.3

—

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

1.34

0.39

1.9

1.8

—

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

1.42

0.39

1.2

2.1

—

(3000764) Benzodiazepines [Presence] in Urine

1.42

0.39

1.0

1.3

—

(3027944) Amphetamines [Presence] in Urine

1.42

0.39

1.0

1.3

—

(3002256) Pathology report gross observation

1.36

0.32

1.9

1.3

—

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

103

1.32

0.30

1.9

2.0

—

(3004410) Hemoglobin A1c/Hemoglobin.total in Blood

621

1.32

0.30

7.4

5.9

39.53

38.73

mmol/mol

0.19

585

(3045414) Leukocytes [Presence] in Urine

1.30

0.27

1.9

2.2

—

0.00

estimate

—

(3041096) Erythrocytes [Presence] in Urine by Automated

221

1.20

0.24

4.2

3.3

0.00

estimate

—

(40768804) Tissue Pathology biopsy report

280

1.18

0.24

2.7

2.0

—

(3006217) Methemoglobin/Hemoglobin.total in Arterial blood

1.23

0.22

3.0

10.4

0.26

0.70

—

(3028653) Carboxyhemoglobin/Hemoglobin.total in Arterial blood

1.23

0.22

3.0

10.4

0.74

1.09

—

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

0.00

0.21

0.0

1.2

—

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

0.00

0.21

0.0

1.9

—

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

0.00

0.21

0.0

1.0

—

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

0.00

0.21

0.0

1.2

—

(3018333) Ribosomal P Ab [Presence] in Serum

0.00

0.21

0.0

1.2

—

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

0.00

0.21

0.0

1.2

—

(3039443) Prostate specific Ag panel - Serum or Plasma

0.00

0.21

0.0

1.6

—

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

0.00

0.21

0.0

1.0

—

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

0.00

0.21

0.0

1.2

—

(3050449) Albumin [Mass/time] in Urine collected for unspecified duration

0.00

0.21

0.0

1.9

—

81.93

—

(40759850) Jo-1 extractable nuclear Ab [Presence] in Serum by Immunoblot

0.00

0.21

0.0

1.2

—

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

0.00

0.21

0.0

1.2

—

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

1.27

0.21

1.3

3.1

—

62.86

—

(1761868) Lipid panel - Serum or Plasma

273

1.16

0.20

3.5

3.0

—

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

1.24

0.20

2.0

2.3

13.07

3.69

ug/l

—

(3012516) Albumin [Mass/volume] in Urine

206

1.17

0.19

3.5

3.1

184.52

63.44

mg/l

0.47

125

(3025839) Triglyceride [Moles/volume] in Serum or Plasma

285

0.87

0.18

2.1

2.0

1.14

1.36

mmol/l

1.27

240

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

285

1.15

0.18

5.0

3.6

0.00

0.02

estimate

—

(40761511) CBC panel - Blood by Automated count

682

1.33

0.16

23.9

13.7

—

(3020682) Albumin/Creatinine [Ratio] in Urine

210

1.14

0.14

4.9

3.8

31.79

10.56

mg/mmol

0.43

118

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

137

0.85

0.13

4.9

5.0

3.52

1.83

ug/l

0.84

122

(3025941) Bacteria identified in Stool by Culture

1.12

0.10

1.2

—

(40761536) Microorganisms panel - Urine sediment

1.08

0.09

6.2

3.9

—

(42868678) Cholesterol non HDL [Moles/volume] in Serum or Plasma

0.81

0.08

2.8

2.0

3.38

3.30

mmol/l

—

(3000492) Spirometry study

0.85

0.08

1.8

1.4

—

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

0.85

0.08

2.8

2.4

2.95

3.16

ratio

—

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

0.82

0.08

6.3

7.7

—

(3033319) Streptococcus pyogenes Ag [Presence] in Throat

0.89

0.07

1.0

1.7

—

(3001784) Prostate Specific Ag Free/Prostate specific Ag.total in Serum or Plasma

110

0.90

0.05

6.7

4.1

15.05

24.50

—

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

127

0.93

0.02

1.3

1.4

—

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

192

0.99

0.00

1.1

1.6

—

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

205

0.97

0.00

4.6

3.9

0.09

0.00

estimate

0.47

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

0.00

0.0

3.3

—

(3019897) Erythrocyte [DistWidth] in Red Blood Cells by Automated count

0.00

0.0

1.4

—

13.00

—

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

0.00

0.0

1.1

—

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

0.00

0.0

3.3

—

(1617658) Protocol used for examination of sentinel lymph nodes

0.00

0.0

1.0

—

(3045788) Cell count panel - Pleural fluid

0.00

0.0

1.0

—

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

0.00

0.0

1.3

—

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

0.00

0.0

2.1

—

65.71

—

(37208534) Antinuclear antibody arbitrary concentration in serum

0.00

-0.00

0.0

1.0

—

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

0.00

-0.00

0.0

1.8

—

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

0.00

-0.00

0.0

1.0

—

39.47

—

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

0.00

-0.00

0.0

1.3

—

(42529598) SUMO-activating enzyme subunit 1 Ab [Presence] in Serum by Line blot

0.00

-0.00

0.0

1.0

—

(3013637) Mi-2 Ab [Presence] in Serum

0.00

-0.00

0.0

1.0

—

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

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

2.0

—

(42529582) MDA5 Ab [Presence] in Serum by Line blot

0.00

-0.00

0.0

1.0

—

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

0.00

-0.00

0.0

1.2

—

(42528593) TIF1-gamma Ab [Presence] in Serum by Line blot

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

2.0

—

(40765096) Chromosome analysis panel by Banding

0.00

-0.00

0.0

1.2

—

(3023410) Appearance of Cerebral spinal fluid

0.00

-0.00

0.0

1.3

—

(40760543) Extractable nuclear Ab [Presence] in Serum by Immunoblot

0.00

-0.00

0.0

1.0

—

(3032700) Glomerular basement membrane Ab [Units/volume] in Serum

0.00

-0.00

0.0

1.2

—

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

0.00

-0.00

0.0

2.0

—

(3030136) 5-Hydroxyindoleacetate [Moles/volume] in Serum or Plasma

0.00

-0.00

0.0

1.0

—

67.80

—

(3005570) Glucose [Moles/volume] in Urine

0.00

-0.00

0.0

1.6

—

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

0.00

-0.00

0.0

1.0

—

283.00

—

(40768441) Liver Pathology biopsy report

0.00

-0.00

0.0

1.3

—

(3045683) HLA typing for celiac disease panel - Blood or Tissue

0.00

-0.00

0.0

1.0

—

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

0.00

-0.00

0.0

2.6

—

67.60

—

(3008832) Norclozapine [Moles/volume] in Serum or Plasma

0.00

-0.00

0.0

14.4

—

1034.20

—

(3011363) Streptococcus pneumoniae Ag [Presence] in Urine

0.00

-0.00

0.0

1.2

—

(3022575) Varicella zoster virus IgG Ab [Units/volume] in Serum

0.00

-0.00

0.0

1.0

—

2174.60

—

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

0.00

-0.00

0.0

1.0

—

(44790047) Parainfluenza type 1 nucleic acid detection

0.00

-0.00

0.0

2.1

—

(3037534) Parathyrin related protein [Mass/volume] in Serum or Plasma

0.00

-0.00

0.0

1.4

—

72.30

—

(44790049) Parainfluenza type 3 nucleic acid detection

0.00

-0.00

0.0

2.1

—

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

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

—

(44790048) Parainfluenza type 2 nucleic acid detection

0.00

-0.00

0.0

2.1

—

(4281824) Cell count and differential, peritoneal fluid

0.00

-0.00

0.0

1.0

—

(3009595) Pneumocystis jirovecii DNA [Presence] in Specimen by NAA with probe detection

0.00

-0.00

0.0

2.0

—

(44806118) Parainfluenza type 4 nucleic acid detection

0.00

-0.00

0.0

2.1

—

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

0.00

-0.00

0.0

2.1

—

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

0.00

-0.00

0.0

1.3

—

Mortality – FinRegistry

↥

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

Relationships between endpoints

↥

Index endpoint: Q17_HEREDITARY_LYMPHEDEMA_WIDE – Hereditary lymphedema, including avohilmo

GWS hits: -

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

≡ Risteys

R14

FinnGen R13 + FinRegistry

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, including avohilmo

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, including avohilmo (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