Disorders of puberty, other/unspecified

E4_PUBDISNAS

No definition available.

Endpoint definition

↥

Endpoint definition steps	FinnGen
Phenotype data	520210
1. Apply sex-specific rule None	520210
2. Check conditions None	520210
3. Check pre-conditions, main-only, mode, registry filters Registry filters: Hospital discharge: ICD-10 — E30.8, E30.9 Cause of death: ICD-10 — E30.8, E30.9 2 out of 7 registries used, show all original rules.	146
4. Check minimum number of events None	146
5. Include endpoints None	146
6. Filter based on genotype QC (FinnGen only)	146

Control definitions (FinnGen only)

Control exclude: E4_ENDOGLAND

Extra metadata

Level in the ICD hierarchy: 4
First used in FinnGen datafreeze: DF2

NAME	E4_PUBDISNAS
CONTROL_EXCLUDE	E4_ENDOGLAND
CONTROL_PRECONDITIONS
CONTROL_CONDITIONS
SEX
INCLUDE
PRE_CONDITIONS
CONDITIONS
OUTPAT_ICD
OUTPAT_OPER
HD_MAINONLY
HD_ICD_10_ATC
HD_ICD_10	E30[8-9]
HD_ICD_9	$!$	The FinnGen clinical team has checked and no code can be used for this rule.
HD_ICD_8	$!$	The FinnGen clinical team has checked and no code can be used for this rule.
HD_ICD_10_EXCL
HD_ICD_9_EXCL
HD_ICD_8_EXCL
COD_MAINONLY
COD_ICD_10	E30[8-9]
COD_ICD_9	$!$	The FinnGen clinical team has checked and no code can be used for this rule.
COD_ICD_8	$!$	The FinnGen clinical team has checked and no code can be used for this rule.
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 Disorders of puberty, other/unspecified 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	2778	2033	744
Only index persons	2125	1439	686
Unadjusted period prevalence (%)
Whole population	0.05	0.06	0.02
Only index persons	0.04	0.05	0.03
Median age at first event (years)
Whole population	9.61	7.65	14.97
Only index persons	10.35	8.12	15.01

-FinnGen-

Key figures

	All	Female	Male
Number of individuals	146	114	32
Unadjusted period prevalence (%)	0.03	0.04	0.01
Median age at first event (years)	10.56	9.26	15.21

-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

No data

CodeWAS (R11)

↥

CodeWAS is a tool for exploring the associations between an endpoint and all of the medical codes and drug codes.

This is a new tool, please reach out using the contact form for feedback and improvement ideas.

First, a cohort is built by matching controls to the endpoint cases using year of birth and sex. Then, a Fisher test is done for all the medical codes and drug codes between the cases and controls of this cohort. Codes are reported in the table below if they have −log₁₀(p-value) ≥ 6.

Matched cohort

Matched cases
133: Matched controls
1330

Code

Vocabulary

Description

Odds Ratio

-log₁₀(p)

N matched cases

N matched controls

E30.9

ICD-10 Finland

Disorder of puberty, unspecified

+∞

84.7

E30.8

ICD-10 Finland

Other disorders of puberty

+∞

74.0

NK6MA

NOMESCO Finland

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

28.4

28.7

E30.09

ICD-10 Finland

Delayed puberty NOS

+∞

18.1

E30.1

ICD-10 Finland

Precocious puberty

+∞

14.9

E34.35

ICD-10 Finland

Abnormal growth retardation

+∞

12.7

L02AE02

ATC

leuprorelin; implant, parenteral

33.5

11.9

E22.80

ICD-10 Finland

Central precocious puberty

119.0

10.6

E30.00

ICD-10 Finland

Familial delayed puberty

107.3

9.5

H03AA01

ATC

levothyroxine sodium; systemic

4.1

9.3

121

E03.9

ICD-10 Finland

Hypothyroidism, unspecified

5.5

8.7

AA1CG

NOMESCO Finland

Extensive MRI examination of brain with high intensity magnet

6.2

8.6

H01AC01

ATC

somatropin; parenteral

+∞

8.4

Z51.80

ICD-10 Finland

Manipulation of puberty development with hormone therapy

+∞

8.4

G03BA03

ATC

testosterone; systemic, rectal, sublingual, transdermal

18.7

8.2

104

Kela drug reimbursment

Thyroid insufficiency

8.5

7.6

F82

ICD-10 Finland

Specific developmental disorder of motor function

17.0

7.4

101

Kela drug reimbursment

Anterior pituitary hypofunction

+∞

7.4

121

Kela drug reimbursment

Severe hypofunction of sexual glands

28.1

6.3

E23.00

ICD-10 Finland

Panhypopituitarism

+∞

6.3

E23.01

ICD-10 Finland

Isolated deficiency of growth hormone

+∞

6.3

LabWAS

↥

(ID) Name

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

7.79

22.84

3.6

1.7

5.2

6.0

u/l

0.20

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

7.36

20.75

3.4

1.7

9.9

14.3

iu/l

0.42

(3014326) Insulin-like growth factor-I [Moles/volume] in Serum or Plasma

15.38

15.25

4.4

1.3

29.0

25.2

nmol/l

—

(3016616) Dehydroepiandrosterone sulfate (DHEA-S) [Moles/volume] in Serum or Plasma

13.97

14.46

1.8

1.1

5.7

6.3

umol/l

0.13

(3017446) Testosterone [Moles/volume] in Serum or Plasma

6.14

14.05

2.3

1.6

6.6

11.0

nmol/l

1.24

(3035637) Corticotropin [Mass/volume] in Plasma

7.35

7.25

1.4

1.7

—

(3022411) Androstenedione [Moles/volume] in Serum or Plasma

13.59

5.66

1.8

1.3

4.9

3.5

nmol/l

—

(3035995) Alkaline phosphatase [Enzymatic activity/volume] in Serum or Plasma

669

2.20

4.87

6.7

6.2

96.8

88.7

u/l

0.55

622

(3021387) Prolactin [Units/volume] in Serum or Plasma

3.06

4.68

2.0

1.5

400.9

346.9

mu/l

0.22

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

116

895

2.44

4.65

6.3

3.6

14.6

14.4

pmol/l

0.41

107

792

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

289

2.05

3.81

1.7

1.5

86.3

92.1

pmol/l

0.44

136

(3019198) Lymphocytes [#/volume] in Blood

637

1.91

3.51

8.0

7.8

2.0

e9/l

0.29

569

(3001604) Monocytes [#/volume] in Blood

609

1.89

3.49

8.1

7.9

0.5

e9/l

0.08

528

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

130

2.32

3.45

3.5

4.8

268.4

941.8

ng/l

1.28

105

(3013115) Eosinophils [#/volume] in Blood

621

1.88

3.42

8.6

0.2

e9/l

0.15

542

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

684

1.88

3.30

9.9

10.1

3.4

3.8

e9/l

1.38

587

(3006315) Basophils [#/volume] in Blood

608

1.85

3.25

8.2

8.0

0.0

e9/l

0.01

525

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

437

1.83

3.11

9.5

8.1

1.2

mmol/l

0.17

390

(42870588) Differential panel, method unspecified - Blood

420

1.83

3.09

6.6

8.6

—

(4027681)

7.76

3.08

1.2

1.3

—

(3018133) Calcium [Moles/volume] in Urine

6.89

2.89

2.2

4.9

2.4

2.0

mmol/l

—

(3013826) Glucose [Moles/volume] in Serum or Plasma

566

1.76

2.86

4.6

5.2

6.2

mmol/l

0.07

502

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

3.39

2.83

1.2

1.3

—

(3021589) Normoblasts [#/volume] in Blood

594

1.72

2.64

9.8

9.6

0.0

e9/l

0.00

473

(40758558) Short blood count panel - Blood

325

1.76

2.54

9.8

9.6

—

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

363

1.72

2.44

3.8

3.4

—

(3048773) Triglyceride [Moles/volume] in Serum or Plasma --fasting

773

1.71

2.39

3.2

2.8

1.2

mmol/l

0.15

727

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

121

1042

1.94

2.39

7.2

4.1

1.7

1.8

mu/l

0.31

113

957

(3013512) EKG study

159

1.94

2.35

4.0

3.4

—

(3044640) Blood type and Crossmatch panel - Blood

299

1.73

2.29

2.4

2.7

—

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

5.71

2.23

1.0

—

(3013707) Erythrocyte sedimentation rate by Westergren method

751

1.66

2.21

5.9

4.3

9.6

8.2

mm/h

0.67

685

(3026008) Bacteria identified in Urine by Culture

354

1.68

2.20

2.8

2.5

—

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

624

1.62

2.17

3.1

2.7

58.4

57.0

ug/l

0.04

572

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

102

850

1.66

2.08

3.6

2.9

5.5

mmol/l

0.05

770

(3009542) Hematocrit [Volume Fraction] of Blood

131

1177

2.10

2.02

14.5

12.5

39.3

39.6

0.30

106

997

(3018095) Leukocytes [#/volume] in Urine

408

1.60

1.97

4.7

3.7

33.7

64.3

e6/l

0.69

263

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

3.07

1.97

1.4

1.2

—

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

3.07

1.97

1.4

1.2

—

(3000991) Gas panel - Venous blood

130

1.91

1.96

6.6

12.3

—

(3012110) Lysozyme [Mass/volume] in Serum or Plasma

3.86

1.95

1.0

1.3

8.1

7.1

mg/l

—

(3002582) Erythrocytes [#/volume] in Urine

340

1.61

1.88

3.8

3.1

41.2

248.7

e6/l

0.53

253

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

237

1.69

1.87

4.0

2.4

6.4

8.6

e6/l

0.38

204

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

831

1.59

1.85

3.5

3.0

4.5

mmol/l

0.10

775

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

129

1161

1.95

1.85

13.2

10.7

16.1

22.3

mg/l

2.01

103

826

(3012544) pH of Venous blood

157

1.80

1.81

5.5

8.1

—

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

119

1051

1.72

1.75

15.2

11.1

3.9

mmol/l

0.45

114

1009

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

319

1.59

1.74

3.8

3.2

0.2

0.3

e6/l

0.19

233

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

119

1052

1.71

1.73

15.6

11.1

139.7

139.6

mmol/l

0.18

114

1011

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

3.94

1.73

1.2

1.3

—

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

818

1.55

1.71

3.5

2.9

1.5

mmol/l

0.05

763

(3004410) Hemoglobin A1c/Hemoglobin.total in Blood

698

1.52

1.68

4.2

3.6

36.7

37.1

mmol/mol

0.14

646

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

837

1.52

1.56

10.1

7.9

105.8

102.2

ml/min/173m2

0.71

600

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

233

1.60

1.50

2.2

2.8

—

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

831

1.50

1.48

3.7

3.1

2.8

2.7

mmol/l

0.37

767

(3050380) Cytology report of Cervical or vaginal smear or scraping Cyto stain

2.57

1.47

1.3

1.2

—

(3032080) INR in Blood by Coagulation assay

261

1.56

1.45

3.2

6.1

1.1

inr

0.05

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

3.20

1.45

1.2

—

(36304419) Bacteria [Presence] in Urine

314

1.52

1.44

3.6

3.2

—

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

203

1.60

1.39

1.6

3.5

1.2

1.1

mg/l

0.07

140

(3000492) Spirometry study

1.87

1.39

1.4

—

(3003458) Phosphate [Moles/volume] in Serum or Plasma

162

1.66

1.37

6.0

8.8

1.1

1.2

mmol/l

0.69

151

(4198724)

3.01

1.37

1.4

2.4

—

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

3.01

1.37

1.4

2.3

—

(3017895) Helicobacter pylori Ab [Units/volume] in Serum

0.00

1.36

0.0

1.7

—

(3022313) Gas panel - Capillary blood

107

1.78

1.33

14.4

7.0

—

(3052851) Hemolysis interference index of Serum or Plasma

2.56

1.32

1.2

2.8

—

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

2.29

1.26

1.6

8.1

132.4

128.2

g/l

—

(3021901) Oxygen saturation in Capillary blood

2.69

1.22

2.8

2.9

—

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

2.69

1.22

1.8

1.2

—

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

219

1.53

1.20

3.9

3.1

28.5

22.4

ng/l

0.13

105

(3027450) Sjogrens syndrome-B extractable nuclear Ab [Units/volume] in Serum

2.36

1.20

1.5

1.2

—

(3002434) Lupus erythematosus deoxynucleoproteins IgG Ab [Units/volume] in Serum by Immunoassay

2.40

1.14

7.0

2.5

—

(3045414) Leukocytes [Presence] in Urine

2.06

1.14

2.6

1.4

—

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

296

1.43

1.07

2.6

2.8

3.6

2.6

mg/l

1.43

243

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

2.02

1.06

1.3

1.2

—

(3018418) pH of Serum or Plasma

236

1.46

1.01

4.2

3.1

7.4

—

(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

2.05

1.01

1.0

1.9

—

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

555

0.73

0.98

2.4

2.0

—

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

257

1.42

0.95

5.4

3.2

—

(3020891) Body temperature

2.27

0.94

1.8

4.3

—

(3004529) Oxygen [Partial pressure] adjusted to patient's actual temperature in Venous blood

2.19

0.92

4.2

4.7

48.9

51.6

—

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

145

1.52

0.91

12.8

10.0

26.4

25.0

mmol/l

1.02

145

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

180

1.47

0.90

2.0

3.1

16.3

4.4

e6/l

0.36

(3037467) Urinalysis macro (dipstick) panel - Urine

751

1.32

0.85

5.9

4.1

—

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

1.70

0.84

5.4

4.6

—

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

1.91

0.82

1.3

1.1

—

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

192

1.43

0.82

2.4

2.9

1.4

0.8

e6/l

0.51

108

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

1.85

0.80

1.3

1.1

—

(44816559) Phosphatidylethanol [Mass/volume] in Blood

1.85

0.80

1.0

1.2

—

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

1.85

0.80

1.2

1.5

—

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

0.00

0.80

0.0

1.2

—

(3012095) Magnesium [Moles/volume] in Serum or Plasma

133

1.49

0.78

5.6

7.9

0.8

mmol/l

0.04

125

(40761511) CBC panel - Blood by Automated count

126

1187

1.45

0.78

11.7

8.7

—

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

1.80

0.77

1.3

1.1

—

(3019225) pH of Specimen

1.65

0.74

2.7

5.1

—

(3044290) Cell count panel - Cerebral spinal fluid

2.03

0.73

2.0

4.3

—

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

2.03

0.73

1.0

1.2

—

(1616796) Gas panel - Central venous blood

2.03

0.73

2.8

2.2

—

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

107

1145

0.75

0.73

4.2

4.0

—

(3042206) Streptococcus agalactiae Ag [Presence] in Vaginal fluid

1.79

0.72

1.4

1.2

—

(3040853) Adenovirus DNA [Identifier] in Specimen by NAA with probe detection

1.95

0.71

1.2

1.9

—

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

1.54

0.69

1.2

1.8

—

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

1.59

0.68

1.9

2.1

—

(3042194) Human metapneumovirus RNA [Presence] in Specimen by NAA with probe detection

1.81

0.67

1.2

1.9

—

(3007853) Bacteria identified in Skin by Aerobe culture

113

1.47

0.64

1.8

1.6

—

(3028026) IgM [Mass/volume] in Serum or Plasma

1.54

0.62

2.0

1.8

1.2

1.0

g/l

0.35

(3014959) Toxoplasma gondii IgG Ab [Units/volume] in Serum

0.00

0.61

0.0

3.0

—

(3025130) Human papilloma virus identified in Specimen

0.00

0.61

0.0

2.0

—

(3027529) Toxoplasma gondii IgM Ab [Units/volume] in Serum

0.00

0.61

0.0

1.5

—

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

1.51

0.60

1.5

—

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

0.00

0.60

0.0

1.1

—

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

0.00

0.60

0.0

1.3

—

(3038177) Helicobacter pylori Ab [Presence] in Serum

0.00

0.60

0.0

1.1

—

(3023368) Bacteria identified in Blood by Culture

186

1.35

0.59

4.3

4.5

—

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

1.51

0.58

1.0

1.3

—

(3015736) pH of Urine

421

1.25

0.57

5.0

3.0

—

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

215

1.31

0.56

1.6

1.5

—

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

143

1.38

0.56

1.3

1.2

39.9

7.6

u/ml

—

(3005033) Fetal Nuchal fold Thickness US

1.51

0.55

1.6

1.4

—

(3047352) Trisomy 18 risk [Likelihood] in Fetus

1.51

0.55

1.6

1.4

—

(3043238) Trisomy 21 risk [Likelihood] in Fetus

1.48

0.54

1.6

1.5

—

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

462

1.23

0.54

4.0

4.2

—

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

1.50

0.52

1.5

1.4

—

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

1.50

0.52

1.5

1.4

—

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

1.50

0.52

1.5

1.4

—

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

1.50

0.52

1.5

1.4

—

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

274

1.26

0.51

6.4

3.2

0.0

estimate

0.00

106

(3019832) Treponema pallidum Ab [Presence] in Serum

321

1.25

0.51

1.9

1.8

—

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

128

1.37

0.50

1.5

1.4

—

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

1.44

0.50

1.2

1.7

—

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

411

1.21

0.46

1.8

1.7

—

(3015635) Cytomegalovirus IgM Ab [Units/volume] in Serum or Plasma

1.42

0.45

1.6

1.8

—

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

364

1.22

0.44

1.8

1.7

—

(3048689) Calprotectin [Mass/mass] in Stool

223

1.26

0.44

2.2

3.2

173.7

86.9

ug/g

0.57

159

(3002148) Methylenedioxymethamphetamine [Presence] in Urine by Screen method

1.63

0.43

1.0

1.3

—

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

205

1.26

0.43

1.5

1.4

—

(3034770) Mitochondria Ab [Titer] in Serum

1.53

0.41

1.2

1.8

—

(3023150) Myeloperoxidase Ab [Units/volume] in Serum

0.00

0.41

0.0

1.1

—

(3000208) Alpha tocopherol [Moles/volume] in Serum or Plasma

0.00

0.41

0.0

4.7

—

22.6

—

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

0.00

0.41

0.0

1.9

—

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

532

1.18

0.41

5.5

3.2

0.0

estimate

0.00

109

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

0.00

0.41

0.0

1.9

—

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

133

1.31

0.41

2.2

1.9

—

(40761535) Cells panel - Urine sediment

1.44

0.40

5.5

2.8

—

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

523

1.18

0.40

7.3

4.6

0.0

estimate

0.00

108

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

1.44

0.39

1.6

1.0

—

(3051387) C reactive protein [Mass/volume] in Capillary blood

0.00

0.39

0.0

3.7

—

28.4

—

(40760892) CBC W Ordered Manual Differential panel - Blood

264

1.22

0.39

5.1

4.6

—

(40768797) Stomach Pathology biopsy report

1.36

0.39

1.2

1.3

—

(3019060) Gas panel - Arterial blood

1.40

0.38

1.4

2.7

—

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

1.34

0.38

3.8

2.8

—

(3011288) Drugs identified in Urine by Screen method

117

1.31

0.37

2.2

2.4

—

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

1.28

0.37

1.1

1.3

—

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

0.64

0.37

1.8

2.0

—

(3014007) Fractional oxyhemoglobin in Arterial blood

1.45

0.36

3.2

15.0

97.0

95.6

—

(3000330) Specific gravity of Urine by Test strip

1.45

0.36

2.0

2.4

—

(3000924) Streptococcus pyogenes [Presence] in Throat by Organism specific culture

1.40

0.35

1.6

1.4

—

(21494755) Public health laboratory ask at order entry panel

118

1.30

0.35

1.1

1.2

—

(3028653) Carboxyhemoglobin/Hemoglobin.total in Arterial blood

1.38

0.35

3.2

14.3

1.1

1.3

—

(3006217) Methemoglobin/Hemoglobin.total in Arterial blood

1.38

0.35

3.2

14.3

0.4

0.7

—

(3044889) 12 lead EKG panel

558

1.16

0.35

3.4

2.6

—

(3021614) Rheumatoid factor [Units/volume] in Serum or Plasma

155

1.26

0.34

1.4

1.2

20.0

23.3

iu/ml

—

(3037551) Cancer Ag 125 [Units/volume] in Serum or Plasma

1.32

0.33

2.0

1.8

18.0

65.0

u/ml

—

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

1.32

0.33

2.0

—

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

0.70

0.32

1.9

1.7

—

(3017918) Cytomegalovirus IgG Ab [Titer] in Serum or Plasma

1.36

0.31

1.6

1.8

—

(4035726)

1.36

0.31

1.3

1.8

—

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

248

0.82

0.31

2.0

1.9

—

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

523

1.15

0.31

5.6

3.2

0.0

estimate

0.00

104

(4010399)

1.24

0.29

1.3

1.4

—

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

298

0.84

0.28

2.6

2.1

—

(3013139) Helicobacter pylori Ag [Presence] in Stool

1.26

0.28

1.0

1.1

—

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

419

1.14

0.27

1.7

1.5

2.3

1.8

g/l

0.66

212

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

133

1.23

0.25

1.3

2.0

—

(3016251) Hemoglobin.gastrointestinal [Presence] in Stool

1.26

0.22

1.8

2.0

—

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

0.00

0.21

0.0

1.1

—

(3043109) Cytology report of Tissue fine needle aspirate Cyto stain

0.00

0.21

0.0

1.3

—

(3015183) Erythrocyte sedimentation rate

0.00

0.21

0.0

1.0

—

(3044941) Cell count panel - Synovial fluid

0.00

0.21

0.0

1.1

—

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

0.00

0.21

0.0

1.3

—

187.2

—

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

0.00

0.21

0.0

1.4

—

(3022493) Free Hemoglobin [Mass/volume] in Plasma

0.00

0.21

0.0

3.1

—

136.8

—

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

0.00

0.21

0.0

1.4

—

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

0.00

0.21

0.0

1.4

—

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

174

1.17

0.21

1.5

—

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

127

1.20

0.20

1.6

2.0

—

(40758897) Direct antiglobulin test.IgG specific reagent [Presence] on Red Blood Cells

0.00

0.20

0.0

3.7

—

(40758895) Direct antiglobulin test.complement C3d specific reagent [Presence] on Red Blood Cells

0.00

0.20

0.0

3.7

—

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

109

1.21

0.19

1.7

2.0

—

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

128

1.19

0.19

1.1

1.3

—

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

1.17

0.18

1.7

2.3

1.2

mmol/l

—

(3010521) Mycoplasma pneumoniae IgM Ab [Presence] in Serum by Immunoassay

0.70

0.17

1.0

1.2

—

(3008898) HLA-B27 [Presence]

1.19

0.17

1.1

—

(3000494) Fungus identified in Specimen by Culture

1.21

0.16

1.1

1.4

—

(3007844) Epstein Barr virus capsid IgM Ab [Units/volume] in Serum by Immunoassay

1.13

0.16

1.4

1.5

—

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

0.75

0.16

2.0

1.5

—

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

462

1.09

0.15

1.4

1.6

0.6

1.3

u/ml

1.10

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

150

0.85

0.15

4.2

2.4

761.1

4283.6

u/l

—

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

467

0.92

0.15

2.6

2.2

—

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

426

0.92

0.14

3.0

2.6

—

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

145

0.89

0.10

1.4

—

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

1.09

0.09

1.0

1.6

—

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

1.04

0.09

1.8

1.5

—

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

399

0.94

0.09

2.4

—

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

1.12

0.09

1.3

1.8

—

(3041096) Erythrocytes [Presence] in Urine by Automated

283

1.08

0.09

4.0

2.8

—

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

113

0.88

0.08

1.3

1.4

—

(40768804) Tissue Pathology biopsy report

315

1.06

0.07

1.9

1.8

—

(3027944) Amphetamines [Presence] in Urine

160

0.93

0.04

1.5

1.9

—

(1761868) Lipid panel - Serum or Plasma

298

0.97

0.02

2.3

2.0

—

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

1.08

0.02

1.6

1.3

—

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

383

1.02

0.01

6.1

3.1

—

(3042936) Bacteria identified in Isolate by Culture

104

0.96

0.00

1.9

2.1

—

(3002256) Pathology report gross observation

101

0.99

0.00

1.3

1.2

—

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

129

1.01

0.00

1.0

—

(3028300) Cannabinoids [Presence] in Urine

161

0.99

0.00

1.7

1.9

—

(3033319) Streptococcus pyogenes Ag [Presence] in Throat

311

1.00

0.00

1.5

1.6

—

(36660697) Celiac disease serology panel - Serum

175

0.97

0.00

1.1

1.2

—

(3016879) Cocaine [Presence] in Urine

148

1.02

0.00

1.7

1.9

—

(3026179) Normetanephrine [Moles/volume] in Serum or Plasma

0.00

0.0

1.4

—

0.5

—

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

0.00

0.0

4.4

—

214.1

—

(21494890) Protein electrophoresis panel - 24 hour Urine

0.00

0.0

1.0

—

(3024471) HLA-A [Type]

0.00

0.0

1.0

—

(3003434) Protein [Mass/volume] in Pleural fluid

0.00

0.0

1.4

—

24.3

—

(3024263) Appearance of Synovial fluid

0.00

0.0

1.0

—

(3029715) Chromosome analysis.interphase [Interpretation] in Bone marrow by FISH Narrative

0.00

0.0

2.4

—

(3004446) Plasmodium sp identified in Blood by Light microscopy

0.00

0.0

3.0

—

(3017115) Methotrexate [Moles/volume] in Serum or Plasma

0.00

0.0

25.8

—

0.6

—

(3028334) Neisseria gonorrhoeae [Presence] in Specimen by Organism specific culture

0.00

0.0

1.0

—

(37020300) Entamoeba histolytica DNA [Presence] in Stool by NAA with probe detection

0.00

0.0

1.1

—

(3043405) Microscopic observation [Identifier] in Specimen by Non-gynecological cytology method

0.00

0.0

2.4

—

(3044936) Clostridioides difficile toxin A+B [Presence] in Stool by Immunoassay

0.00

0.0

1.3

—

(3032352) Blasts [#/volume] in Cerebral spinal fluid

0.00

0.0

9.0

—

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

0.00

0.0

1.0

—

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

0.00

0.0

1.4

—

(3005702) Mycobacterium sp identified in Specimen by Organism specific culture

0.00

0.0

1.6

—

(4146454)

0.00

0.0

2.8

—

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

0.87

0.00

1.6

1.3

—

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

0.00

0.0

1.4

—

(44816893) Food Allergen Mix 50 (Kiwi+Pineapple+Banana+Mango) IgE Ab [Units/volume] in Serum by Multidisk

0.00

0.0

1.0

—

(3024932) HLA-DR beta [Type]

0.00

0.0

1.0

—

(3013566) Clostridioides difficile [Presence] in Stool by Organism specific culture

0.00

0.0

1.7

—

(3016724) Homocysteine [Moles/volume] in Serum or Plasma

0.00

0.0

1.6

—

9.1

—

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

0.00

0.0

3.2

—

17.2

—

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

0.00

0.0

1.8

—

(3023419) Bacteria identified in Sputum by Culture

0.00

0.0

2.8

—

(40762485) Glomerular basement membrane Ab [Units/volume] in Serum by Immunoassay

0.00

0.0

2.0

—

(3009340) Metanephrine [Moles/volume] in Serum or Plasma

0.00

0.0

1.3

—

(42870298) TPMT gene c.238G>C+460G>A+719A>G [Identifier] in Blood or Tissue by Molecular genetics method Narrative

0.00

0.0

1.1

—

(723474) SARS-CoV-2 (COVID-19) IgG Ab [Presence] in Serum or Plasma by Immunoassay

0.00

0.0

1.0

—

(3026048) Bordetella pertussis IgG Ab [Units/volume] in Serum

0.00

0.0

1.1

—

(3043410) Blood group antigens tested for on Red Blood Cells

0.00

0.0

1.0

—

(3032155) Metanephrine Free [Moles/volume] in Serum or Plasma

0.00

0.0

1.4

—

(3007821) Glucose [Moles/volume] in Serum or Plasma --baseline

0.00

0.0

1.6

—

5.0

—

(3022145) Colonoscopy Study observation

1.02

0.00

1.6

1.4

—

(3005011) Chlamydia sp Ab [Titer] in Serum

0.00

0.0

1.7

—

(40761536) Microorganisms panel - Urine sediment

0.93

0.00

6.0

3.3

—

(4024509)

0.00

0.0

1.2

—

(3036071) Salmonella sp Ab [Titer] in Serum

0.00

0.0

1.0

—

(3014162) Mycobacterium tuberculosis DNA [Presence] in Specimen by NAA with probe detection

0.00

0.0

1.9

—

(3020393) Adenovirus Ag [Presence] in Stool

0.00

0.0

1.7

—

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

0.00

0.0

1.8

—

(42868414) European tick borne encephalitis virus IgM Ab [Presence] in Serum by Immunoassay

0.00

0.0

1.2

—

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

1.01

0.00

2.1

1.7

—

(3041672) Baker's yeast Ab [Presence] in Serum

0.00

0.0

1.3

—

(40760109) Toxoplasma gondii IgG Ab avidity [Ratio] in Serum by Immunoassay

0.00

0.0

1.2

—

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

0.00

0.0

1.2

—

(3027008) Opiates [Presence] in Urine

160

1.00

0.00

1.7

1.9

—

(42868766) Dientamoeba fragilis DNA [Presence] in Stool by NAA with probe detection

0.00

0.0

1.2

—

(3000764) Benzodiazepines [Presence] in Urine

160

1.00

0.00

1.7

1.9

—

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

0.00

0.0

1.8

—

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

0.00

0.0

1.8

—

(3036782) Glucose [Moles/volume] in Pleural fluid

0.00

0.0

1.2

—

7.1

—

(3035947) Staphylolysin Ab [Units/volume] in Serum

0.00

0.0

1.3

—

(3018921) Toxoplasma gondii IgA Ab [Units/volume] in Serum

0.00

0.0

1.2

—

(3025941) Bacteria identified in Stool by Culture

0.98

0.00

1.7

1.2

—

(3042733) HLA Ab [Presence] in Serum

0.00

0.0

2.0

—

(3029493) Herpes virus 6 DNA [Presence] in Blood by NAA with probe detection

0.00

0.0

4.6

—

(3028433) Virus identified in Specimen by Culture

0.00

0.0

1.2

—

(3029396) Erythrocyte agglutination [Presence] in Blood

0.00

0.0

3.3

—

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

0.00

0.0

1.8

—

(21494670) JAK2 gene exon 14 targeted mutation analysis in Blood or Tissue by Molecular genetics method

0.00

0.0

1.0

—

(3010726) Horse dander IgE Ab [Units/volume] in Serum

0.98

0.00

1.0

1.1

—

4.2

—

Mortality – FinRegistry

↥

Association

Association between endpoint E4_PUBDISNAS and mortality.

Females

Parameter	HR [95% CI]	p-value
E4_PUBDISNAS	2.209 [1.53, 3.18]	< 0.001
Birth year	0.992 [0.98, 1.0]	0.079

During the follow-up period (1.1.1998 — 31.12.2019), 97 out of 1798 females with E4_PUBDISNAS died.

Males

No data

Mortality risk

Mortality risk for people of age

years, who have E4_PUBDISNAS.

N-year risk	Females	Males
1	0.179%	No data
5	1.09%	No data
10	2.848%	No data
15	5.741%	No data
20	9.391%	No data

Relationships between endpoints

↥

Index endpoint: E4_PUBDISNAS – Disorders of puberty, other/unspecified

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

Disorders of puberty, other/unspecified

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 (R11)

Matched cohort

LabWAS

Mortality – FinRegistry

Association

Females

Males

Mortality risk

Relationships between endpoints