Klinefelter syndrome, karyotype 47 XXY

Q17_KLINEFELTER_SYNDROME

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: Hospital discharge: ICD-10 — Q98.0 Cause of death: ICD-10 — Q98.0 2 out of 7 registries used, show all original rules.	110
4. Check minimum number of events None	110
5. Include endpoints None	110
6. Filter based on genotype QC (FinnGen only)	25

Control definitions (FinnGen only)

Controls for this endpoint are individuals that are not cases.

NAME	Q17_KLINEFELTER_SYNDROME
CONTROL_EXCLUDE
CONTROL_PRECONDITIONS
CONTROL_CONDITIONS
SEX
INCLUDE
PRE_CONDITIONS
CONDITIONS
OUTPAT_ICD
OUTPAT_OPER
HD_MAINONLY
HD_ICD_10_ATC
HD_ICD_10	Q980
HD_ICD_9
HD_ICD_8
HD_ICD_10_EXCL
HD_ICD_9_EXCL
HD_ICD_8_EXCL
COD_MAINONLY
COD_ICD_10	Q980
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 Klinefelter syndrome, karyotype 47 XXY 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	25	-	22
Unadjusted period prevalence (%)	0.01	-	0.01
Median age at first event (years)	23.44	-	22.24

-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
80: Matched controls
800

Code

Vocabulary

Description

Odds Ratio

-log₁₀(p)

N matched cases

N matched controls

Q98.0

ICD-10 Finland

Klinefelter syndrome karyotype 47,XXY

+∞

115.1

G03BA03

ATC

testosterone; systemic, rectal, sublingual, transdermal

51.2

72.0

121

Kela drug reimbursment

Severe hypofunction of sexual glands

250.0

47.9

Q98.4

ICD-10 Finland

Klinefelter syndrome, unspecified

+∞

41.3

Z31.5

ICD-10 Finland

Genetic counselling

14.8

26.3

E29.1

ICD-10 Finland

Testicular hypofunction

27.8

17.8

N46

ICD-10 Finland

Male infertility

19.6

15.2

Y28

ICPC

Limited function/disability (Y)

45.4

12.7

WVA30, ,

SPAT

11.0

10.9

A55

ICPC

General and Unspecified, Local injection/infiltration

28.2

7.8

KFB01

NOMESCO Finland

Microscope-assisted testicular biopsy for assisted reproduction treatments

87.9

7.6

Q98.1

ICD-10 Finland

Klinefelter syndrome, male with more than two X chromosomes

+∞

7.4

L02BG04

ATC

letrozole; oral

29.2

6.4

G25.0

ICD-10 Finland

Essential tremor

29.2

6.4

LabWAS

↥

N Cases

N Controls

-log₁₀(p)

cases

controls

cases

controls

unit

-log₁₀(p)

N cases

N controls

(40765089) Chromosome analysis panel - Blood by G-banded

20.11

10.35

1.0

—

(3023323) Follitropin [Units/volume] in Serum or Plasma

7.96

8.73

2.6

1.7

28.84

10.64

iu/l

2.31

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

14.60

5.20

1.4

1.2

241.88

149.17

mu/l

—

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

436

3.34

4.71

4.5

3.3

13.76

14.91

pmol/l

4.58

416

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

134

2.83

4.44

1.6

2.8

0.78

0.82

mg/l

0.06

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

182

2.64

4.23

2.9

3.3

26.74

23.69

—

(3007853) Bacteria identified in Skin by Aerobe culture

2.94

3.51

1.5

1.8

—

(40758558) Short blood count panel - Blood

213

2.25

3.09

3.7

6.8

—

(3010566) Parathyrin.intact [Moles/volume] in Serum or Plasma

8.78

2.79

1.4

1.2

3.58

5.10

pmol/l

—

(3038177) Helicobacter pylori Ab [Presence] in Serum

6.38

2.75

1.2

1.0

—

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

597

0.48

2.46

3.4

—

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

2.95

2.32

5.7

6.8

—

(3009508) Creatinine [Moles/volume] in Urine

211

1.96

2.16

4.6

3.4

10.15

9.55

mmol/l

0.23

193

(3020059) Calcium [Moles/volume] corrected for albumin in Serum or Plasma

2.28

1.83

1.4

2.8

2.45

2.39

mmol/l

1.47

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

153

1.92

1.82

2.7

3.4

2.38

2.37

mmol/l

0.21

144

(3006315) Basophils [#/volume] in Blood

361

1.82

5.3

8.5

0.04

e9/l

0.56

321

(3005013) Prostate Specific Ag Free [Mass/volume] in Serum or Plasma

145

1.94

1.81

2.2

0.41

0.68

ug/l

2.73

(3001604) Monocytes [#/volume] in Blood

362

1.81

1.79

5.3

8.5

0.54

0.56

e9/l

0.38

323

(3018301) Testosterone Free [Moles/volume] in Serum or Plasma

3.51

1.78

1.0

1.7

147.15

232.58

pmol/l

—

(3005895) Myoglobin [Mass/volume] in Serum or Plasma

3.51

1.78

1.3

2.3

61.33

106.82

ug/l

—

(4268621) Lupus anticoagulant assay

4.03

1.74

2.2

2.8

—

(3026008) Bacteria identified in Urine by Culture

2.17

1.73

1.9

2.3

—

(3015235) Bicarbonate [Moles/volume] in Capillary blood

3.33

1.69

2.5

2.2

22.72

24.33

mmol/l

—

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

272

1.76

1.65

4.7

11.6

1.22

1.21

mmol/l

0.52

246

(1761868) Lipid panel - Serum or Plasma

321

0.57

1.43

4.9

2.6

—

(3021589) Normoblasts [#/volume] in Blood

319

1.67

1.41

9.5

11.4

0.00

e9/l

0.50

256

(3037467) Urinalysis macro (dipstick) panel - Urine

369

1.66

1.38

4.1

3.7

—

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

149

1.76

1.37

1.5

1.8

—

(3028707) Methadone [Presence] in Urine by Screen method

2.50

1.33

4.3

3.3

—

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

176

1.71

1.33

1.8

84.12

100.67

pmol/l

1.34

(3020460) C reactive protein [Mass/volume] in Serum or Plasma

671

2.37

1.31

12.6

12.3

16.48

25.22

mg/l

3.01

522

(3019900) Cholesterol [Moles/volume] in Serum or Plasma

638

2.00

1.27

5.9

4.2

4.64

4.70

mmol/l

0.21

612

(3023602) Cholesterol in HDL [Moles/volume] in Serum or Plasma

635

2.05

1.26

5.3

4.1

1.15

1.28

mmol/l

2.16

607

(3021960) Folate [Moles/volume] in Serum or Plasma

1.86

1.25

2.0

1.5

20.66

19.31

nmol/l

0.16

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

103

1.83

1.25

1.2

1.8

—

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

207

1.63

1.21

2.6

3.1

—

(3019150) Specific gravity of Urine by Refractometry

138

1.71

1.18

2.5

2.8

1.01

1.02

kg/l

1.32

(42870588) Differential panel, method unspecified - Blood

246

1.58

1.14

6.2

8.4

—

(3001308) Cholesterol in LDL [Moles/volume] in Serum or Plasma

641

1.96

1.14

5.9

4.4

2.87

2.93

mmol/l

0.26

611

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

1.79

1.14

1.9

3.1

2.80

0.40

e6/l

—

(21494755) Public health laboratory ask at order entry panel

133

0.48

1.11

1.1

1.3

—

(3006140) Bilirubin.total [Moles/volume] in Serum or Plasma

305

1.54

1.08

4.7

7.8

10.79

15.96

umol/l

2.23

296

(3000494) Fungus identified in Specimen by Culture

1.90

1.07

1.4

1.8

—

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

142

1.65

1.06

3.3

2.9

0.00

0.02

estimate

—

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

153

1.60

1.00

1.6

1.8

—

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

102

1.71

1.00

1.9

3.0

0.02

0.33

e6/l

—

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

2.03

1.00

1.0

1.3

—

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

226

1.52

0.97

2.3

2.4

0.00

estimate

—

(3011288) Drugs identified in Urine by Screen method Nominal

1.86

0.95

2.8

3.1

—

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

1.81

0.95

3.6

2.1

—

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

221

1.49

0.87

2.1

2.4

—

(3025941) Bacteria identified in Stool by Culture

2.01

0.86

1.0

1.3

—

(40761511) CBC panel - Blood by Automated count

703

2.07

0.85

11.4

9.9

—

(36660697) Celiac disease serology panel - Serum

1.73

0.84

1.1

1.2

—

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

308

1.45

0.83

2.7

0.00

estimate

—

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

308

1.45

0.83

2.7

2.6

0.00

estimate

—

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

596

1.61

0.83

12.3

11.1

95.87

96.83

ml/min/173m2

0.14

542

(3015736) pH of Urine

261

1.45

0.82

2.5

2.6

6.32

6.19

0.19

139

(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

1.88

0.81

1.5

1.7

—

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

310

1.43

0.80

2.6

2.7

0.00

estimate

—

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

191

1.45

0.73

1.8

1.6

—

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

1.62

0.73

2.6

3.1

—

(3008898) HLA-B27 [Presence]

1.73

0.70

1.0

1.1

—

(3016407) Fibrinogen [Mass/volume] in Platelet poor plasma by Coagulation assay

1.91

0.69

1.8

7.3

3.70

3.22

g/l

—

(3002582) Erythrocytes [#/volume] in Urine

186

1.41

0.65

2.4

2.9

14.15

11.18

e6/l

0.17

137

(3018095) Leukocytes [#/volume] in Urine

214

1.39

0.64

2.7

3.5

189.27

7.15

e6/l

0.46

148

(3013512) EKG study

141

1.46

0.64

2.5

2.4

—

(3016879) Cocaine [Presence] in Urine

1.55

0.62

2.9

2.0

—

(3027008) Opiates [Presence] in Urine

1.52

0.61

2.8

1.9

—

(3028300) Cannabinoids [Presence] in Urine

1.52

0.61

3.2

1.9

—

(3019832) Treponema pallidum Ab [Presence] in Serum

1.53

0.60

3.0

2.2

—

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

198

1.38

0.59

1.3

1.5

0.34

1.24

u/ml

—

(3000764) Benzodiazepines [Presence] in Urine

1.50

0.59

3.0

1.9

—

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

180

1.39

0.58

1.3

1.6

2.08

2.52

g/l

0.57

109

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

1.72

0.58

1.8

6.2

107.50

89.11

—

(40760892) CBC W Ordered Manual Differential panel - Blood

162

1.40

0.58

2.3

4.7

—

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

164

1.38

0.54

2.0

2.8

0.12

0.16

e6/l

0.18

116

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

1.50

0.48

1.5

1.7

—

(3044889) 12 lead EKG panel

390

1.28

0.47

3.5

3.2

—

(3033319) Streptococcus pyogenes Ag [Presence] in Throat

171

0.71

0.45

1.8

1.7

—

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

192

0.73

0.44

1.2

1.3

—

(3013139) Helicobacter pylori Ag [Presence] in Stool

1.65

0.44

2.0

1.1

—

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

0.00

0.41

0.0

3.5

—

(3017044) Thyrotropin receptor Ab [Units/volume] in Serum

0.00

0.41

0.0

2.0

—

4.93

—

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

0.00

0.41

0.0

1.2

—

(40761995) Spermatozoa Progressive [#/volume] in Semen

0.00

0.41

0.0

3.4

—

37.47

—

(3014043) Spermatozoa Nonprogressive/Spermatozoa in Semen

0.00

0.41

0.0

6.8

—

8.29

—

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

0.00

0.39

0.0

1.0

—

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

0.00

0.39

0.0

1.0

—

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

135

1.33

0.39

2.8

3.1

—

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

1.41

0.39

1.0

3.1

—

72.65

—

(3027944) Amphetamines [Presence] in Urine

1.37

0.38

2.9

1.6

—

(40768797) Stomach Pathology biopsy report

0.62

0.38

1.2

—

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

0.66

0.35

4.3

4.0

6.00

8.86

umol/l

—

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

1.38

0.32

1.1

1.4

—

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

1.30

0.31

2.6

2.8

—

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

1.36

0.30

1.5

1.7

—

(40768804) Tissue Pathology biopsy report

190

1.22

0.27

1.3

1.6

—

(4010399) Spirometry for bronchospasm with prolonged evaluation after bronchodilator

1.37

0.24

1.4

1.5

—

(40761536) Microorganisms panel - Urine sediment

1.30

0.23

1.8

2.4

—

(4035726) Immunohistochemistry procedure

1.27

0.23

1.4

1.5

—

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

0.00

0.21

0.0

1.1

—

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

0.00

0.21

0.0

2.6

—

(3003191) Choriogonadotropin [Presence] in Serum or Plasma

0.00

0.21

0.0

2.1

—

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

0.00

0.21

0.0

2.6

—

(3040363) Hepatitis A virus IgG Ab [Presence] in Serum by Immunoassay

0.00

0.21

0.0

1.1

—

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

0.00

0.21

0.0

2.6

—

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

0.00

0.21

0.0

1.5

—

193.64

—

(3041096) Erythrocytes [Presence] in Urine by Automated

175

1.19

0.21

1.5

1.9

0.00

estimate

—

(44806118) Parainfluenza type 4 nucleic acid detection

0.00

0.21

0.0

1.7

—

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

0.00

0.21

0.0

2.2

—

(44790048) Parainfluenza type 2 nucleic acid detection

0.00

0.21

0.0

1.7

—

(44790049) Parainfluenza type 3 nucleic acid detection

0.00

0.21

0.0

1.7

—

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

0.00

0.21

0.0

2.3

—

(3047169) Lambda light chains.free [Mass/volume] in Serum or Plasma

0.00

0.21

0.0

4.8

—

26.29

—

(44790047) Parainfluenza type 1 nucleic acid detection

0.00

0.21

0.0

1.7

—

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

0.00

0.21

0.0

2.3

—

(3034860) Kappa light chains.free [Mass/volume] in Serum

0.00

0.21

0.0

4.8

—

38.05

—

(3028369) Herpes simplex virus 1+2 DNA [Presence] in Specimen by NAA with probe detection

0.00

0.20

0.0

1.3

—

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

0.00

0.20

0.0

1.1

—

(3046294) Neutrophil cytoplasmic Ab.classic [Titer] in Serum

0.00

0.20

0.0

1.1

—

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

206

1.16

0.19

3.7

2.9

9.96

21.98

ng/l

1.69

118

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

120

1.20

0.18

2.1

2.53

1.93

e6/l

0.21

110

(3012544) pH of Venous blood

0.77

0.16

3.2

8.6

7.38

—

(3002032) Base excess in Venous blood by calculation

0.76

0.16

3.2

8.2

2.07

1.69

mmol/l

—

(3042936) Bacteria identified in Isolate by Culture

1.22

0.14

1.5

2.4

—

(3023368) Bacteria identified in Blood by Culture

159

0.86

0.14

4.9

5.0

—

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

142

1.16

0.14

2.5

2.6

—

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

1.20

0.14

1.5

2.0

—

(3000492) Spirometry study

105

1.17

0.12

1.4

—

(3022313) Gas panel - Capillary blood

1.12

0.09

2.8

3.7

—

(3002256) Pathology report gross observation

1.10

0.09

1.2

—

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

225

1.10

0.09

1.9

3.1

—

estimate

—

(3022145) Colonoscopy Study observation

0.83

0.08

1.0

1.4

—

(3044640) Blood type and Crossmatch panel - Blood

177

1.10

0.07

1.9

2.5

—

(3003031) Transferrin.carbohydrate deficient.disialo/Transferrin.total in Serum or Plasma

158

1.02

0.00

2.3

1.9

1.84

1.44

0.87

148

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

155

1.04

0.00

2.5

2.7

—

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

131

0.99

0.00

1.8

2.8

—

(21493690) Lymphocyte T-cell and B-cell and Natural killer subsets panel - Blood

0.00

0.0

9.7

—

(3023419) Bacteria identified in Sputum by Culture

0.00

0.0

2.1

—

(3018559) Microscopic observation [Identifier] in Buccal smear by Cyto stain

0.00

0.0

1.2

—

(3017817) Protein [Mass] in Urine collected for unspecified duration

0.00

0.0

9.4

—

1151.14

—

(3013201) Beta-2-Microglobulin [Mass/volume] in Serum or Plasma

0.00

0.0

1.6

—

3.00

—

(3010503) CD19 cells [#/volume] in Blood

0.00

0.0

2.0

—

146.00

—

(3033705) Calcium.ionized [Moles/volume] in Venous blood

0.00

0.0

1.4

—

1.19

—

(3045716) Anion gap in Serum or Plasma by calculation

0.00

0.0

2.6

—

14.00

—

(3027831) CD3-CD16+CD56+ (Natural killer) cells/cells in Blood

0.00

0.0

9.4

—

9.57

—

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

0.00

0.0

1.6

—

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

0.00

0.0

1.0

—

(3007847) Interleukin 2 Receptor Soluble [Units/volume] in Serum or Plasma

0.00

0.0

1.5

—

845.13

—

(3042975) Streptococcus sp identified in Isolate by Organism specific culture

0.00

0.0

1.0

—

(3041806) Other cells [#/volume] in Blood by Manual count

0.00

0.0

1.0

—

0.54

—

(3023511) Choriogonadotropin [Units/volume] in Urine

0.00

0.0

1.0

—

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

0.00

0.0

3.2

—

47.00

—

(3016914) Bacteria identified in Cerebral spinal fluid by Culture

0.00

0.0

1.7

—

(3015183) Erythrocyte sedimentation rate [Velocity] in Red Blood Cells

0.00

0.0

1.1

—

11.43

—

(3046896) Herpes virus 6 DNA [Presence] in Cerebral spinal fluid by NAA with probe detection

0.00

0.0

1.2

—

(1001509) Gas and Carbon monoxide and Electrolytes panel - Arterial blood

0.00

0.0

2.1

—

(3049539) Genetic diseases [Identifier] in Blood or Tissue by FISH Nominal

0.00

0.0

1.6

—

(3038515) Glucose [Moles/volume] in Venous blood

0.00

0.0

1.5

—

6.95

—

(3035285) Chloride [Moles/volume] in Venous blood

0.00

0.0

1.4

—

106.60

—

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

0.00

0.0

1.6

—

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

0.00

0.0

1.0

—

(3021236) Streptolysin O Ab [Units/volume] in Serum or Plasma

0.00

0.0

1.0

—

324.01

—

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

0.00

0.0

1.6

—

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

0.00

0.0

1.0

—

263.75

—

(1175426) CD3 cells/Lymphocytes in Blood

0.00

0.0

9.4

—

70.86

—

(3014702) Chromogranin A [Moles/volume] in Serum or Plasma

0.00

0.0

2.2

—

1.38

—

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

0.00

0.0

1.0

—

(3041354) Potassium [Moles/volume] in Venous blood

0.00

0.0

1.4

—

4.08

—

(3003245) Complement C1 esterase inhibitor [Mass/volume] in Serum or Plasma

0.00

0.0

1.0

—

0.26

—

(3042631) Mycobacterium sp identified in Specimen

0.00

0.0

1.9

—

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

0.00

0.0

1.0

—

101.80

—

(3032773) Endomysium IgG Ab [Titer] in Serum

0.00

0.0

1.0

—

(3028679) Herpes simplex virus Ab [Presence] in Serum

0.00

0.0

1.0

—

(21494815) CD4 cells/Lymphocytes in Specimen

0.00

0.0

8.6

—

37.21

—

(3028167) CD3+CD4+ (T4 helper) cells [#/volume] in Blood

0.00

0.0

2.7

—

0.45

—

(40760888) Immunoglobulin light chains.free panel - Serum

0.00

0.0

5.9

—

(3008733) Herpes simplex virus DNA [Presence] in Cerebral spinal fluid by NAA with probe detection

0.00

0.0

1.0

—

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

0.00

0.0

1.0

—

(3028531) Enolase.neuron specific [Mass/volume] in Serum or Plasma

0.00

0.0

1.6

—

13.24

—

(40759883) Oligoclonal Bands IgG [Presence] in Cerebral spinal fluid by Isoelectric focusing

0.00

0.0

1.0

—

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

0.00

0.0

4.7

—

46.70

—

(3005757) Coagulation factor V activity actual/normal in Platelet poor plasma by Coagulation assay

0.00

0.0

3.6

—

101.20

—

(3026515) Parvovirus B19 IgM Ab [Units/volume] in Serum

0.00

0.0

1.0

—

(3006245) CD3-CD19+ cells/cells in Blood

0.00

0.0

12.2

—

7.40

—

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

0.00

0.0

1.6

—

(3012447) Hantavirus puumala IgG Ab [Titer] in Serum

0.00

0.0

1.3

—

(3012568) Campylobacter sp identified in Specimen by Organism specific culture

0.00

-0.00

0.0

1.8

—

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

0.96

-0.00

6.3

14.0

106.88

104.48

mmol/l

—

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

0.94

-0.00

1.0

—

(3005156) Respiratory syncytial virus A RNA [Presence] in Specimen by NAA with probe detection

0.00

-0.00

0.0

2.8

—

(3016894) Varicella zoster virus DNA [Presence] in Cerebral spinal fluid by NAA with probe detection

0.00

-0.00

0.0

1.2

—

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

1.00

-0.00

5.7

14.2

25.57

25.48

mmol/l

—

(3005988) Vibrio sp identified in Specimen by Organism specific culture

0.00

-0.00

0.0

1.8

—

(3038297) Parainfluenza virus 4 RNA [Presence] in Specimen by NAA with probe detection

0.00

-0.00

0.0

2.8

—

(40768800) Prostate Pathology biopsy report

0.00

-0.00

0.0

1.2

—

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

0.00

-0.00

0.0

2.8

—

(40760847) Basement membrane Ab [Titer] in Serum by Immunofluorescence

0.00

-0.00

0.0

1.2

—

(3024522) Salmonella sp identified in Specimen by Organism specific culture

0.00

-0.00

0.0

1.8

—

(3029075) Extractable nuclear Ab panel - Serum

0.00

-0.00

0.0

1.0

—

(40758292) HTLV I+II Ab panel - Serum

0.00

-0.00

0.0

1.5

—

(36305771) Cryptosporidium sp DNA [Presence] in Stool by NAA with probe detection

0.00

-0.00

0.0

1.0

—

(42868716) Shigella species+EIEC invasion plasmid antigen H ipaH gene [Presence] in Stool by NAA with probe detection

0.00

-0.00

0.0

1.8

—

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

0.00

-0.00

0.0

1.2

—

1.72

—

(21493195) Respiratory pathogens DNA and RNA tested for in Respiratory system specimen by NAA with probe detection

0.00

-0.00

0.0

2.8

—

(3012202) Varicella zoster virus DNA [Presence] in Specimen by NAA with probe detection

0.00

-0.00

0.0

1.5

—

(3025468) Yersinia sp identified in Specimen by Organism specific culture

0.00

-0.00

0.0

1.8

—

(3020961) Endomysium IgA Ab [Titer] in Serum

0.92

-0.00

1.2

1.3

—

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

0.84

-0.00

3.4

9.3

24.80

24.10

mmol/l

—

(3021584) Pregnancy associated plasma protein A [Units/volume] in Serum or Plasma

0.00

-0.00

0.0

1.3

—

1060.30

—

(3000108) Respiratory syncytial virus B RNA [Presence] in Specimen by NAA with probe detection

0.00

-0.00

0.0

2.8

—

(3025634) Parainfluenza virus 1 RNA [Presence] in Specimen by NAA with probe detection

0.00

-0.00

0.0

2.8

—

(3007449) CD3+CD8+ (T8 suppressor) cells/cells in Blood

0.00

-0.00

0.0

10.3

—

29.50

—

(4133840) Spirometry

0.00

-0.00

0.0

1.0

—

(37020937) Giardia lamblia DNA [Presence] in Stool by NAA with probe detection

0.00

-0.00

0.0

1.0

—

(37021550) Renin [Units/volume] in Plasma --upright

0.00

-0.00

0.0

1.5

—

31.68

—

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

0.00

-0.00

0.0

1.7

—

(40768441) Liver Pathology biopsy report

0.00

-0.00

0.0

1.3

—

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

0.00

-0.00

0.0

2.8

—

(21493466) Plesiomonas shigelloides DNA [Presence] in Stool by NAA with non-probe detection

0.00

-0.00

0.0

1.8

—

Mortality – FinRegistry

↥

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

Relationships between endpoints

↥

Index endpoint: Q17_KLINEFELTER_SYNDROME – Klinefelter syndrome, karyotype 47 XXY

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

Klinefelter syndrome, karyotype 47 XXY

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 Klinefelter syndrome, karyotype 47 XXY (Q17_KLINEFELTER_SYNDROME)

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