Turner's syndrome

Q17_TURNE_SYNDR

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: Hospital discharge: ICD-10 — Q96 Cause of death: ICD-10 — Q96 2 out of 7 registries used, show all original rules.	94
4. Check minimum number of events None	94
5. Include endpoints None	94
6. Filter based on genotype QC (FinnGen only)	43

Control definitions (FinnGen only)

Control exclude: Q17_CHROMOSOMAL_ABNORMALITI_NOT_ELSEW_CLASSIFIED

Extra metadata

Level in the ICD hierarchy: 3
First used in FinnGen datafreeze: DF4
Parent code in ICD-10: Q9
Name in latin: Syndroma Turner

NAME	Q17_TURNE_SYNDR
CONTROL_EXCLUDE	Q17_CHROMOSOMAL_ABNORMALITI_NOT_ELSEW_CLASSIFIED
CONTROL_PRECONDITIONS
CONTROL_CONDITIONS
SEX
INCLUDE
PRE_CONDITIONS
CONDITIONS
OUTPAT_ICD
OUTPAT_OPER
HD_MAINONLY
HD_ICD_10_ATC
HD_ICD_10	Q96
HD_ICD_9
HD_ICD_8
HD_ICD_10_EXCL
HD_ICD_9_EXCL
HD_ICD_8_EXCL
COD_MAINONLY
COD_ICD_10	Q96
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 Turner's syndrome 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-

Key figures

	All	Female	Male
Number of individuals
Whole population	1030	965	61
Only index persons	909	853	56
Unadjusted period prevalence (%)
Whole population	0.03	0.03	0.00
Only index persons	0.03	0.03	0.00
Median age at first event (years)
Whole population	15.85	16.16	9.17
Only index persons	17.47	18.00	9.51

-FinnGen-

Key figures

	All	Female	Male
Number of individuals	43	38	5
Unadjusted period prevalence (%)	0.01	0.01	0.00
Median age at first event (years)	27.38	30.56	3.21

-FinRegistry-

Age distribution of first events

-FinnGen-

Age distribution of first events

-FinRegistry-

Year distribution of first events

-FinnGen-

Year distribution of first events

-FinRegistry-

Cumulative Incidence Function

-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
94: Matched controls
940

Code

Vocabulary

Description

Odds Ratio

-log₁₀(p)

N matched cases

N matched controls

Q96.0

ICD-10 Finland

Karyotype 45,X

+∞

53.3

Q96.9

ICD-10 Finland

Turner syndrome, unspecified

+∞

43.1

Q96.3

ICD-10 Finland

Mosaicism, 45,X/46,XX or XY

+∞

33.3

121

Kela drug reimbursment

Severe hypofunction of sexual glands

91.3

32.9

FM1AE

NOMESCO Finland

Standard cardiac ultrasound examination

13.0

29.6

H01AC01

ATC

somatropin; parenteral

103.1

27.6

Z31.5

ICD-10 Finland

Genetic counselling

11.3

27.1

FM1EE

NOMESCO Finland

Extensive structural and functional ultrasound examination of heart

8.9

24.3

Z03.5

ICD-10 Finland

Observation for other suspected cardiovascular diseases

12.0

23.7

Q96.8

ICD-10 Finland

Other variants of Turner syndrome

+∞

22.8

Q96

ICD-10 Finland

Turner syndrome

+∞

20.6

Z01.1

ICD-10 Finland

Examination of ears and hearing

7.0

17.3

Q96.4

ICD-10 Finland

Mosaicism, 45,X/other cell line(s) with abnormal sex chromosome

+∞

17.2

301

Kela drug reimbursment

Growth hormone

94.9

15.1

7586A

ICD-9 Finland

Chromosomal anomalies, Gonadal dysgenesis

+∞

13.9

E28.3

ICD-10 Finland

Primary ovarian failure

162.5

13.8

101

Kela drug reimbursment

Anterior pituitary hypofunction

47.5

13.6

G03FB08

ATC

dydrogesterone and estrogen; systemic

11.5

12.7

I35.1

ICD-10 Finland

Aortic (valve) insufficiency

54.2

12.2

Q23.11

ICD-10 Finland

Bicuspid aortic valve

40.6

11.6

LC2AE

NOMESCO Finland

Ultrasound examination of uterus and parametria

5.1

11.6

NK6MA

NOMESCO Finland

Measurement of bone age from hand and elbow using X-ray

18.9

10.8

NK6QA

NOMESCO Finland

Measurement of bone density from two or more locations with X-ray

11.2

10.7

Q96.2

ICD-10 Finland

Karyotype 46,X with abnormal sex chromosome, except iso (Xq)

+∞

10.6

H90.3

ICD-10 Finland

Sensorineural hearing loss, bilateral

9.0

9.9

G03FB06

ATC

medroxyprogesterone and estrogen; systemic

16.5

8.5

DFF00

NOMESCO Finland

Pure tone audiometry

6.9

7.7

G03CA03

ATC

estradiol; nasal, systemic, rectal, transdermal, vaginal

3.3

7.4

205

G03DB01

ATC

dydrogesterone; oral

3.7

7.2

E23.01

ICD-10 Finland

Isolated deficiency of growth hormone

74.7

6.5

I71.9

ICD-10 Finland

Aortic aneurysm of unspecified site, without mention of rupture

+∞

6.3

LabWAS

↥

N Cases

N Controls

-log₁₀(p)

cases

controls

cases

controls

unit

-log₁₀(p)

N cases

N controls

(3009214) Lutropin [Units/volume] in Serum or Plasma

7.25

12.95

2.7

1.7

6.56

11.86

u/l

0.77

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

25.10

11.09

1.0

—

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

279

2.93

6.16

1.9

1.4

0.59

1.96

u/ml

1.27

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

254

2.59

4.86

2.0

1.3

2.04

2.01

g/l

0.04

142

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

306

2.57

4.79

3.3

2.3

66.98

72.51

nmol/l

0.98

281

(36660697) Celiac disease serology panel - Serum

115

2.89

4.71

1.4

1.2

—

(3020961) Endomysium IgA Ab [Titer] in Serum

3.19

4.13

1.3

1.2

—

16.00

—

(3023709) Somatotropin [Mass/volume] in Serum or Plasma

10.45

3.01

7.0

4.2

2.93

2.23

ug/l

—

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

170

2.12

2.71

1.5

1.37

1.28

mmol/l

0.18

153

(3022217) INR in Platelet poor plasma by Coagulation assay

198

2.03

2.55

10.0

6.3

0.93

1.07

inr

—

(3014007) Fractional oxyhemoglobin in Arterial blood

3.87

2.42

8.8

19.1

94.43

96.21

—

(3028653) Carboxyhemoglobin/Hemoglobin.total in Arterial blood

3.70

2.33

8.8

18.4

1.21

1.03

—

(3006217) Methemoglobin/Hemoglobin.total in Arterial blood

3.70

2.33

8.8

18.4

0.56

0.70

—

(3018171) Choriogonadotropin [Units/volume] in Serum or Plasma

2.25

2.31

1.6

2.5

2953.76

5283.42

u/l

—

(3027238) Thyroperoxidase Ab [Units/volume] in Serum or Plasma

2.16

2.02

1.4

1.3

180.00

137.03

iu/ml

—

(3003265) Liver kidney microsomal Ab [Titer] in Serum by Immunofluorescence

4.73

1.96

1.0

2.1

—

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

207

1.83

1.92

2.2

2.3

2.34

2.37

mmol/l

0.72

188

(40761536) Microorganisms panel - Urine sediment

2.19

1.81

2.9

2.7

—

(3020682) Albumin/Creatinine [Ratio] in Urine

107

1.97

1.70

3.3

7.88

19.40

mg/mmol

0.57

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

2.06

1.67

2.6

2.1

2.42

2.40

mmol/l

0.19

(3016650) Hepatitis A virus Ab [Presence] in Serum

3.71

1.63

1.2

1.0

—

(3034770) Mitochondria Ab [Titer] in Serum

3.13

1.61

1.5

1.7

—

(3012516) Albumin [Mass/volume] in Urine

103

1.92

1.54

3.0

3.1

59.82

144.97

mg/l

0.51

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

2.62

1.48

5.9

2.8

136.86

163.79

—

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

1.90

1.43

2.3

3.2

1463.30

554.60

ng/l

—

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

2.71

1.39

10.8

17.2

—

(3044889) 12 lead EKG panel

402

1.59

1.37

3.0

2.6

—

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

176

1.66

1.29

1.6

2.1

—

(3023368) Bacteria identified in Blood by Culture

119

1.75

1.24

3.2

4.1

—

(3024889) Methemoglobin/Hemoglobin.total in Venous blood

2.72

1.23

2.6

4.8

0.54

0.60

—

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

313

0.61

1.18

1.3

1.7

—

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

1.83

1.12

1.1

3.8

3.78

5.48

umol/l

—

(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

2.46

1.10

1.2

1.6

—

(3019060) Gas panel - Arterial blood

2.46

1.10

2.2

4.4

—

(3018251) Fasting glucose [Moles/volume] in Serum or Plasma

677

1.64

1.06

3.5

3.0

5.61

5.49

mmol/l

0.30

628

(3021589) Normoblasts [#/volume] in Blood

373

1.46

0.99

6.5

8.0

0.00

e9/l

0.49

307

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

1.92

0.96

1.3

1.7

—

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

1.81

0.95

5.6

6.5

106.56

105.90

mmol/l

—

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

1.72

0.94

1.3

1.9

—

(4035726) Immunohistochemistry procedure

1.94

0.90

1.0

1.6

—

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

765

0.67

0.86

4.0

—

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

0.00

0.80

0.0

1.2

—

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

1.73

0.79

6.3

9.4

23.85

24.80

mmol/l

0.33

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

1.67

0.75

1.3

1.7

—

(3018677) aPTT in Platelet poor plasma by Coagulation assay

1.61

0.73

2.8

2.7

30.53

29.36

0.57

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

1.81

0.73

1.1

1.3

—

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

1.72

0.72

2.3

2.8

229.70

225.07

u/l

—

(3019225) pH of Specimen

1.76

0.71

1.7

6.8

—

(3009508) Creatinine [Moles/volume] in Urine

164

1.45

0.71

3.8

2.8

7.65

8.07

mmol/l

0.12

147

(3006923) Alanine aminotransferase [Enzymatic activity/volume] in Serum or Plasma

810

1.72

0.70

9.0

8.1

38.24

22.34

u/l

2.51

782

(40768443) Skin Pathology biopsy report

1.90

0.69

1.0

1.1

—

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

138

0.62

0.67

2.7

2.0

—

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

1.54

0.66

1.2

1.4

—

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

1.63

0.61

1.6

1.5

—

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

1.71

0.58

3.0

3.4

94.33

97.19

—

(3000991) Gas panel - Venous blood

1.58

0.57

9.8

12.1

—

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

302

1.31

0.57

8.4

6.9

1.23

1.22

mmol/l

0.34

266

(3000494) Fungus identified in Specimen by Culture

1.55

0.56

1.3

—

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

178

0.69

0.55

3.0

2.1

—

(3036489) Thrombin time

1.57

0.54

2.8

2.3

23.50

20.88

—

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

219

1.33

0.53

1.9

1.5

108.99

95.34

pmol/l

0.72

103

(3048816) Calcium.ionized [Moles/volume] adjusted to pH 7.4 in Blood

1.53

0.52

11.5

3.5

1.22

mmol/l

—

(3002256) Pathology report gross observation

1.49

0.52

1.2

—

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

251

0.74

0.51

2.6

2.1

—

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

117

0.65

0.49

1.4

1.5

—

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

1.43

0.46

2.1

2.7

—

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

0.64

0.45

1.3

1.5

—

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

0.64

0.45

1.3

1.5

—

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

0.64

0.45

1.3

1.5

—

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

0.64

0.45

1.3

1.5

—

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

276

0.78

0.42

2.5

2.3

—

(3037467) Urinalysis macro (dipstick) panel - Urine

569

0.81

0.42

3.8

3.9

—

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

0.00

0.41

0.0

1.8

—

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

0.00

0.40

0.0

1.0

—

(21494755) Public health laboratory ask at order entry panel

115

0.67

0.40

1.0

1.2

—

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

1.41

0.38

1.5

1.7

—

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

647

1.25

0.37

10.4

8.1

101.32

98.31

ml/min/173m2

0.59

508

(3044640) Blood type and Crossmatch panel - Blood

239

1.24

0.37

1.9

2.1

—

(3029511) Human papilloma virus DNA [Presence] in Specimen by NAA with probe detection

1.42

0.36

1.0

1.7

—

(40760892) CBC W Ordered Manual Differential panel - Blood

397

1.20

0.34

4.1

5.8

—

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

483

0.83

0.34

5.5

8.1

3.88

3.81

e9/l

0.07

421

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

243

1.22

0.32

2.7

3.1

—

(3013512) EKG study

130

1.28

0.31

3.0

2.8

—

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

1.27

0.30

3.0

6.7

23.71

23.93

mmol/l

—

(3033319) Streptococcus pyogenes Ag [Presence] in Throat

182

0.79

0.30

1.5

1.7

—

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

120

0.72

0.29

1.4

2.2

—

(3000492) Spirometry study

1.34

0.29

1.3

1.4

—

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

0.65

0.27

4.8

1.7

—

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

199

1.21

0.27

2.7

2.8

0.06

0.19

e6/l

1.22

155

(21492888) Glucose tolerance 2 hours gestational panel - Serum or Plasma

1.26

0.26

1.8

—

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

287

1.17

0.25

1.8

—

(3000764) Benzodiazepines [Presence] in Urine

0.73

0.25

1.2

1.5

—

(3042936) Bacteria identified in Isolate by Culture

0.73

0.25

1.0

2.1

—

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

106

1.26

0.25

2.5

2.7

5.98

4.24

e6/l

—

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

1.37

0.24

2.0

1.5

—

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

1.33

0.23

1.8

1.4

—

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

101

0.77

0.22

1.4

1.5

—

(3023410) Appearance of Cerebral spinal fluid

0.00

0.21

0.0

1.3

—

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

0.00

0.21

0.0

1.1

—

(3045424) Erythrocytes [Presence] in Urine

0.00

0.21

0.0

1.0

—

(3009550) Parvovirus B19 IgG Ab [Titer] in Serum

0.00

0.21

0.0

1.1

—

(3020629) Protein S Free Ag actual/normal in Platelet poor plasma by Immunoassay

0.00

0.21

0.0

1.0

—

97.10

—

(21492711) Cytomegalovirus IgG Ab avidity [Presence] in Serum or Plasma by Immunoassay

0.00

0.21

0.0

1.8

—

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

0.00

0.21

0.0

1.1

—

120.52

—

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

165

1.19

0.21

1.8

2.7

20.10

17.73

ng/l

0.12

(1761482) Bacteria [#/volume] in Urine by Culture

0.00

0.21

0.0

2.5

—

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

0.00

0.21

0.0

1.7

—

253.54

—

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

0.00

0.21

0.0

1.7

—

13.26

—

(4094501) Cardiovascular stress test using bicycle ergometer

0.00

0.20

0.0

1.0

—

(40768804) Tissue Pathology biopsy report

302

1.14

0.20

2.0

1.9

—

(3013139) Helicobacter pylori Ag [Presence] in Stool

1.19

0.20

1.5

1.2

—

(40768797) Stomach Pathology biopsy report

1.26

0.19

1.4

1.3

—

(36304419) Bacteria [Presence] in Urine

207

1.15

0.17

2.8

—

(3022145) Colonoscopy Study observation

1.12

0.16

1.4

—

(3016879) Cocaine [Presence] in Urine

0.79

0.16

1.2

1.5

—

(3047352) Trisomy 18 risk [Likelihood] in Fetus

0.76

0.16

1.3

1.4

—

(3005033) Fetal Nuchal fold Thickness US

0.76

0.16

1.3

1.4

—

(3028300) Cannabinoids [Presence] in Urine

0.74

0.16

1.2

1.5

—

(3027944) Amphetamines [Presence] in Urine

0.74

0.16

1.2

1.5

—

(3043238) Trisomy 21 risk [Likelihood] in Fetus

0.74

0.16

1.3

1.5

—

(3027008) Opiates [Presence] in Urine

0.74

0.16

1.2

1.5

—

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

112

1.19

0.15

2.5

2.6

0.98

0.72

e6/l

—

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

0.82

0.14

2.1

1.6

—

(3026008) Bacteria identified in Urine by Culture

229

1.12

0.14

2.1

—

(3037522) Nuclear Ab [Titer] in Serum

132

1.16

0.14

1.5

—

659.20

—

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

538

1.10

0.13

3.3

3.9

—

44.75

—

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

1.18

0.12

1.2

1.8

—

(1761868) Lipid panel - Serum or Plasma

271

1.10

0.11

2.7

2.1

—

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

390

1.09

0.11

2.3

2.5

—

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

197

0.89

0.11

2.3

3.1

—

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

349

0.92

0.11

2.2

2.1

—

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

318

0.92

0.10

2.1

1.8

—

(3022313) Gas panel - Capillary blood

1.07

0.09

3.8

10.7

—

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

165

1.11

0.09

1.4

1.5

—

(43055554) Base excess.100% oxygenated [Moles/volume] standard in Capillary blood by calculation

0.81

0.08

6.2

9.5

3.40

1.00

mmol/l

—

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

0.81

0.08

4.4

3.9

—

(3048929) Epstein Barr virus Ab [Presence] in Serum

0.82

0.08

1.0

1.7

—

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

1.10

0.08

1.3

1.5

—

(3012544) pH of Venous blood

1.09

0.08

3.3

6.0

—

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

216

1.09

0.07

2.7

3.3

0.00

estimate

—

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

1.06

0.07

1.1

—

(3002582) Erythrocytes [#/volume] in Urine

226

1.08

0.07

2.6

2.8

12.12

52.40

e6/l

1.46

178

(40758558) Short blood count panel - Blood

203

0.92

0.07

5.5

7.1

—

(3019832) Treponema pallidum Ab [Presence] in Serum

258

0.96

0.02

1.6

1.8

—

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

308

0.96

0.02

2.7

3.1

—

(3018095) Leukocytes [#/volume] in Urine

277

0.96

0.01

3.3

3.4

74.19

62.85

e6/l

0.09

184

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

246

0.97

0.00

1.7

1.5

—

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

404

1.03

0.00

3.7

4.6

0.00

estimate

—

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

158

1.02

0.00

1.4

2.2

343.00

604.61

u/l

0.26

153

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

172

0.99

0.00

1.6

1.5

—

(3006315) Basophils [#/volume] in Blood

419

1.00

0.00

3.8

5.6

0.04

e9/l

0.16

376

(3001604) Monocytes [#/volume] in Blood

419

1.00

0.00

3.8

5.6

0.51

0.52

e9/l

0.16

376

(3013115) Eosinophils [#/volume] in Blood

433

0.99

0.00

4.2

5.7

0.15

0.19

e9/l

2.00

388

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

407

1.01

0.00

2.7

3.2

0.00

estimate

—

(3041096) Erythrocytes [Presence] in Urine by Automated

235

0.97

0.00

2.9

2.8

—

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

806

1.04

0.00

9.7

10.3

24.44

19.94

mg/l

0.55

580

(3002030) Lymphocytes/100 leukocytes in Blood

424

0.98

0.00

4.6

5.5

27.95

31.97

1.56

412

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

406

1.02

0.00

2.9

3.3

0.00

estimate

—

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

0.00

-0.00

0.0

1.0

—

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

0.00

-0.00

0.0

1.3

—

(3023419) Bacteria identified in Sputum by Culture

0.00

-0.00

0.0

2.0

—

(3050238) Crystals [Presence] in Synovial fluid by Light microscopy

0.00

-0.00

0.0

1.0

—

(40758990) Choriogonadotropin.beta subunit [Mass/volume] in Serum or Plasma

0.00

-0.00

0.0

1.0

—

(3011391) Calcitriol [Moles/volume] in Serum or Plasma

0.00

-0.00

0.0

1.6

—

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

0.00

-0.00

0.0

1.2

—

(3020393) Adenovirus Ag [Presence] in Stool

0.00

-0.00

0.0

3.8

—

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

0.00

-0.00

0.0

1.0

—

219.86

—

(3002670) Multiple inhalant allergen IgE Ab [Units/volume] in Serum

0.00

-0.00

0.0

1.0

—

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

0.00

-0.00

0.0

1.4

—

(3036071) Salmonella sp Ab [Titer] 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

1.2

—

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

0.00

-0.00

0.0

1.2

—

80.80

—

(3008037) Lactate [Moles/volume] in Venous blood

0.00

-0.00

0.0

3.0

—

0.99

—

(3011985) Renin [Units/volume] in Plasma

0.00

-0.00

0.0

1.0

—

38.52

—

(3022803) Oxygen [Partial pressure] adjusted to patient's actual temperature in Arterial blood

0.00

-0.00

0.0

2.2

—

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

0.00

-0.00

0.0

3.0

—

6.17

—

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

0.00

-0.00

0.0

1.0

—

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

0.00

-0.00

0.0

1.3

—

(3011897) Casein IgE Ab [Units/volume] in Serum

0.00

-0.00

0.0

1.2

—

1.95

—

(3015183) Erythrocyte sedimentation rate

0.00

-0.00

0.0

1.0

—

(3019601) Blood group antibody investigation [Interpretation] in Plasma or RBC

0.00

-0.00

0.0

1.5

—

(3024666) Lithium [Moles/volume] in Serum or Plasma

0.00

-0.00

0.0

8.8

—

0.65

—

(3028772) Osteocalcin [Mass/volume] in Serum or Plasma

0.00

-0.00

0.0

1.8

—

38860.00

—

(36304052) Adalimumab Ab [Units/volume] in Serum or Plasma

0.00

-0.00

0.0

5.2

—

(3035933) Granulocytes/100 leukocytes in Blood

0.00

-0.00

0.0

1.0

—

(3041145) Herpes simplex virus IgM Ab [Presence] in Serum by Immunoassay

0.00

-0.00

0.0

1.4

—

(3044941) Cell count panel - Synovial fluid

0.00

-0.00

0.0

1.5

—

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

0.00

-0.00

0.0

1.2

—

(3016018) Differential panel - Cerebral spinal fluid

0.00

-0.00

0.0

1.3

—

(3044242) Glucose [Moles/volume] in Arterial blood

0.00

-0.00

0.0

1.2

—

(3011288) Drugs identified in Urine by Screen method

1.00

-0.00

1.7

1.8

—

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

0.00

-0.00

0.0

1.1

—

0.28

—

(3010254) Herpes simplex virus identified in Specimen by Organism specific culture

0.00

-0.00

0.0

1.0

—

(3020491) Glucose [Moles/volume] in Blood

0.00

-0.00

0.0

1.9

—

5.49

—

(3034988) Calcium [Moles/volume] in Capillary blood

0.00

-0.00

0.0

2.6

—

1.20

—

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

0.00

-0.00

0.0

1.3

—

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

0.00

-0.00

0.0

2.1

—

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

0.00

-0.00

0.0

1.3

—

61.86

—

(3026250) Tacrolimus [Mass/volume] in Blood

0.00

-0.00

0.0

68.9

—

6.27

—

(3045156) Carbon dioxide [Partial pressure] adjusted to patient's actual temperature in Arterial blood

0.00

-0.00

0.0

2.2

—

(40769539) Bacteria identified based on 16S rRNA gene [Identifier] in Specimen by Sequencing

0.00

-0.00

0.0

2.4

—

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

0.00

-0.00

0.0

5.4

—

26.38

—

(42869547) Procollagen type III.N-terminal propeptide [Mass/volume] in Serum

0.00

-0.00

0.0

1.0

—

5.97

—

(3007853) Bacteria identified in Skin by Aerobe culture

0.91

-0.00

1.4

1.5

—

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

0.00

-0.00

0.0

1.1

—

107.57

—

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

0.87

-0.00

1.2

1.5

—

Mortality – FinRegistry

↥

Association

Association between endpoint Q17_TURNE_SYNDR and mortality.

Females

Parameter	HR [95% CI]	p-value
Q17_TURNE_SYNDR	4.191 [3.01, 5.84]	< 0.001
Birth year	0.994 [0.99, 1.0]	0.156

During the follow-up period (1.1.1998 — 31.12.2019), 51 out of 862 females with Q17_TURNE_SYNDR died.

Males

No data

Mortality risk

Mortality risk for people of age

years, who have Q17_TURNE_SYNDR.

N-year risk	Females	Males
1	0.364%	No data
5	2.293%	No data
10	5.834%	No data
15	10.872%	No data
20	18.565%	No data

Relationships between endpoints

↥

Index endpoint: Q17_TURNE_SYNDR – Turner's syndrome

GWS hits: -

Endpoint

Case Overlap

Survival Analysis

Genetic Correlations

Genetic Signals

N (Jaccard index)

HR [CI]

rg [CI]

Hits

Coloc Hits

FinRegistry

FinnGen

FinRegistry

FinnGen

Loading data

Turner's syndrome

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)

Similar endpoints

Case counts by codes

Summary Statistics

-FinRegistry-

Key figures

-FinnGen-

Key figures

-FinRegistry-

Age distribution of first events

-FinnGen-

Age distribution of first events

-FinRegistry-

Year distribution of first events

-FinnGen-

Year distribution of first events

-FinRegistry-

Cumulative Incidence Function

-FinnGen-

Cumulative Incidence Function

CodeWAS

Matched cohort

LabWAS

Mortality – FinRegistry

Association

Females

Males

Mortality risk

Relationships between endpoints