Nezelof syndrome

D3_NEFELOF

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 — D81.4 Cause of death: ICD-10 — D81.4 2 out of 7 registries used, show all original rules.	151
4. Check minimum number of events None	151
5. Include endpoints None	151
6. Filter based on genotype QC (FinnGen only)	151

Control definitions (FinnGen only)

Control exclude: D3_IMMUNEMECHANISM

Extra metadata

Level in the ICD hierarchy: 4
First used in FinnGen datafreeze: DF2
Parent code in ICD-10: D81
Name in latin: Syndroma Nezelof

NAME	D3_NEFELOF
CONTROL_EXCLUDE	D3_IMMUNEMECHANISM
CONTROL_PRECONDITIONS
CONTROL_CONDITIONS
SEX
INCLUDE
PRE_CONDITIONS
CONDITIONS
OUTPAT_ICD
OUTPAT_OPER
HD_MAINONLY
HD_ICD_10_ATC
HD_ICD_10	D814
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	D814
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 Nezelof 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	1192	627	560
Only index persons	1015	541	474
Unadjusted period prevalence (%)
Whole population	0.02	0.02	0.02
Only index persons	0.02	0.02	0.02
Median age at first event (years)
Whole population	57.80	56.96	58.61
Only index persons	56.18	55.27	57.21

-FinnGen-

Key figures

	All	Female	Male
Number of individuals	151	88	63
Unadjusted period prevalence (%)	0.03	0.03	0.03
Median age at first event (years)	54.59	50.41	60.43

-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
143: Matched controls
1431

Code

Vocabulary

Description

Odds Ratio

-log₁₀(p)

N matched cases

N matched controls

D81.4

ICD-10 Finland

Nezelof syndrome

+∞

206.6

143

T81.4

ICD-10 Finland

Infection following a procedure, not elsewhere classified

34.4

66.3

Y83

ICD-10 Finland

Surgical operation and other surgical procedures as the cause of abnormal reaction of the patient, or of later complication, without mention of misadventure at the time of the procedure

23.6

39.1

WX408

NOMESCO Finland

General anesthesy, balanced

4.2

13.5

230

GD1UA

NOMESCO Finland

Thorax X-ray examination outside radiological department

4.7

11.6

119

X59

ICD-10 Finland

Exposure to unspecified factor

4.0

9.8

144

Y84

ICD-10 Finland

Other medical procedures as the cause of abnormal reaction of the patient, or of later complication, without mention of misadventure at the time of the procedure

59.1

9.8

TPH15

NOMESCO Finland

Insertion of central venous catheter through external or internal jugular vein

6.5

9.6

ZXA00

NOMESCO Finland

Right side

3.3

9.1

253

WX700

NOMESCO Finland

Respiratory and circulatory monitoring

3.9

9.0

129

QDB10

NOMESCO Finland

Major dressing of wound of skin of lower limb

7.3

8.5

J01FF01

ATC

clindamycin; systemic

3.1

8.4

243

M01AH01

ATC

celecoxib; oral (coxibs)

3.6

8.3

138

GD1QA

NOMESCO Finland

Supine thorax X-ray examination

3.9

8.2

114

N02AX02

ATC

tramadol; systemic, rectal

2.8

8.1

419

N02AA59

ATC

codeine, combinations excl. psycholeptics; systemic

2.7

7.5

458

GD1PA

NOMESCO Finland

X-ray examination of the lungs in one projection

5.2

7.5

J01MA12

ATC

levofloxacin; systemic

3.2

7.4

167

JN1AE

NOMESCO Finland

Ultrasound examination of upper part of abdomen

5.5

7.3

ZXA05

NOMESCO Finland

Left side

2.9

7.3

240

J01DA01

ATC

[U] cefalexin; systemic

2.8

7.2

105

711

I70.2

ICD-10 Finland

Atherosclerosis of arteries of extremities

4.4

7.2

Y88.3

ICD-10 Finland

Sequelae of surgical and medical procedures as the cause of abnormal reaction of the patient, or of later complication, without mention of misadventure at the time of the procedure

10.1

6.9

C03CA01

ATC

furosemide; systemic

2.7

6.9

272

WX404

NOMESCO Finland

Intravenous generell anesthesy

3.0

6.7

179

R4110

NOMESCO Finland

Physiotherapy

2.8

6.5

239

NA3AA

NOMESCO Finland

Lumbar spine X-ray examination without contrast

4.1

6.3

GD1AA

NOMESCO Finland

Thorax X-ray examination

2.4

6.3

436

T81.3

ICD-10 Finland

Disruption of operation wound, not elsewhere classified

9.2

6.2

JN3AE

NOMESCO Finland

Abdominal ultrasound examination

3.5

6.1

WZC10

NOMESCO Finland

Extensive specialist consultion with written report

6.9

6.0

LabWAS

↥

(ID) Name

N Cases

N Controls

-log₁₀(p)

cases

controls

cases

controls

unit

-log₁₀(p)

N cases

N controls

(3007853) Bacteria identified in Skin by Aerobe culture

133

3.12

7.28

2.8

1.5

—

(3023368) Bacteria identified in Blood by Culture

324

2.35

5.80

5.4

4.2

—

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

287

2.11

4.20

3.6

2.0

3.2

3.3

mg/l

0.19

255

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

231

2.13

3.91

4.9

3.3

415.0

222.3

ng/l

0.26

171

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

123

2.46

3.89

2.4

1.7

—

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

659

1.96

3.89

8.5

5.8

10.8

11.4

umol/l

0.23

626

(3009508) Creatinine [Moles/volume] in Urine

339

1.98

3.75

3.3

2.7

7.3

7.8

mmol/l

0.32

280

(3042936) Bacteria identified in Isolate by Culture

182

2.20

3.74

2.6

2.0

—

(3012516) Albumin [Mass/volume] in Urine

316

1.98

3.68

3.3

2.8

1242.5

49.0

mg/l

0.51

206

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

184

2.17

3.63

2.6

1.8

—

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

128

2.35

3.57

2.4

1.7

—

(40758558) Short blood count panel - Blood

312

1.96

3.52

12.1

7.8

—

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

2.64

3.37

1.9

1.5

—

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

169

2.13

3.27

2.1

2.2

17.3

22.5

1.28

146

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

2.69

3.17

1.5

1.3

—

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

187

2.06

3.12

5.0

3.2

0.8

mmol/l

0.40

175

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

482

1.79

3.07

2.3

2.0

93.2

94.7

pmol/l

0.08

253

(3020682) Albumin/Creatinine [Ratio] in Urine

338

1.82

2.91

4.1

3.5

13.3

7.3

mg/mmol

0.44

215

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

133

2.15

2.87

3.1

5.7

0.9

1.0

mmol/l

1.78

119

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

186

1.99

2.83

3.3

2.6

0.9

1.1

e6/l

0.28

105

(3003396) Base excess in Arterial blood by calculation

134

2.14

2.82

13.6

10.9

1.4

1.6

mmol/l

0.12

102

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

2.67

2.80

18.3

18.6

—

(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

2.55

2.74

2.1

1.5

—

(36304419) Bacteria [Presence] in Urine

320

1.79

2.67

4.3

2.7

—

(3013139) Helicobacter pylori Ag [Presence] in Stool

2.51

2.66

1.2

1.3

—

(1761868) Lipid panel - Serum or Plasma

449

0.51

2.54

3.2

2.8

—

(3021347) Calcium.ionized [Moles/volume] in Serum or Plasma

544

1.66

2.43

14.9

6.2

1.2

mmol/l

0.07

491

(3019060) Gas panel - Arterial blood

2.27

2.40

5.9

10.1

—

(3025941) Bacteria identified in Stool by Culture

2.37

1.0

1.2

—

(3000991) Gas panel - Venous blood

2.21

2.28

34.4

8.0

—

(3046279) Procalcitonin [Mass/volume] in Serum or Plasma

2.75

2.24

2.7

2.1

0.4

7.5

ug/l

0.55

(3042631) Mycobacterium sp identified in Specimen

5.70

2.23

1.2

4.3

—

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

111

2.04

2.14

3.6

2.5

2.8

6.3

ug/l

2.41

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

330

1.67

2.13

4.6

2.8

0.3

e6/l

0.20

250

(40760888) Immunoglobulin light chains.free panel - Serum

3.44

1.99

1.1

5.8

—

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

105

1192

0.61

1.98

4.7

4.4

1.3

1.5

mmol/l

2.94

1100

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

176

1.80

1.98

3.5

2.8

3.5

2.5

e6/l

0.27

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

596

1.55

1.91

14.7

7.0

1.2

mmol/l

0.22

507

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

262

1.66

1.87

3.4

2.4

6.9

4.1

e6/l

1.33

236

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

3.14

1.82

1.1

1.4

—

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

2.85

1.82

3.4

1.9

23.7

23.5

mmol/l

—

(3018418) pH of Serum or Plasma

378

1.57

1.81

5.5

3.7

7.4

—

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

112

967

1.61

1.78

13.5

7.2

78.7

76.7

u/l

0.24

105

895

(3052851) Hemolysis interference index of Serum or Plasma

2.59

1.77

5.3

3.8

—

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

110

1227

0.62

1.76

5.3

4.9

2.6

2.8

mmol/l

1.40

1132

(3034770) Mitochondria Ab [Titer] in Serum

3.01

1.74

2.0

1.2

—

(3002032) Base excess in Venous blood by calculation

105

1.93

1.72

21.6

3.3

0.6

2.4

mmol/l

1.58

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

726

1.51

1.67

15.0

9.9

5.1

4.1

e9/l

2.78

634

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

3.65

1.63

1.4

1.2

—

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

709

1.49

1.62

12.6

5.1

7.3

6.6

mmol/l

2.00

659

(1616796) Gas panel - Central venous blood

3.08

1.59

2.5

2.6

—

(3012544) pH of Venous blood

108

1.87

1.59

21.8

3.6

—

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

108

1202

0.64

1.57

4.6

4.5

4.7

mmol/l

1.18

1116

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

104

1166

0.65

1.56

4.0

1.7

1.3

mmol/l

4.27

1069

(3019230) Fractional oxyhemoglobin in Venous blood

3.41

1.53

75.4

2.2

67.2

65.0

—

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

2.57

1.47

1.4

1.6

—

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

2.57

1.47

1.4

1.6

—

(3051611) Lipemic interference index of Serum or Plasma

3.19

1.45

1.4

3.1

—

(3024928) Oxygen saturation in Venous blood

2.80

1.45

63.0

3.5

—

(3002482) Mycoplasma pneumoniae DNA [Presence] in Specimen by NAA with probe detection

2.67

1.38

1.3

1.6

—

(3002582) Erythrocytes [#/volume] in Urine

371

1.47

1.37

4.4

3.0

19.3

233.1

e6/l

0.68

291

(3002256) Pathology report gross observation

147

1.67

1.33

1.4

1.2

—

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

131

1.70

1.32

1.6

—

(3020565) Legionella pneumophila DNA [Presence] in Specimen by NAA with probe detection

2.84

1.29

1.4

1.7

—

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

269

1.50

1.25

1.4

1.2

0.5

1.5

u/ml

1.41

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

2.69

1.22

1.0

1.5

—

(3021901) Oxygen saturation in Capillary blood

2.69

1.22

3.8

2.1

—

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

2.69

1.22

1.0

1.5

—

(3014007) Fractional oxyhemoglobin in Arterial blood

1.95

1.22

18.9

10.4

94.8

93.4

0.54

(3045414) Leukocytes [Presence] in Urine

2.17

1.20

2.5

1.6

—

(40768797) Stomach Pathology biopsy report

168

1.58

1.19

1.4

1.2

—

(3032080) INR in Blood by Coagulation assay

493

1.40

1.18

15.9

8.4

1.3

inr

0.06

136

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

308

0.63

1.14

1.4

—

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

191

0.54

1.14

1.5

1.4

—

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

430

1.40

1.13

4.8

2.9

—

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

121

1.65

1.12

1.7

1.5

—

(3022313) Gas panel - Capillary blood

2.02

1.06

3.8

2.5

—

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

270

1.44

1.04

3.0

2.1

—

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

2.11

1.04

1.0

1.1

—

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

2.31

1.04

1.8

1.3

—

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

2.31

1.04

1.0

1.3

—

(3012477) Bordetella pertussis DNA [Presence] in Specimen by NAA with probe detection

2.31

1.04

1.4

1.6

—

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

1.83

1.04

1.4

1.6

—

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

2.05

1.01

1.3

1.1

—

(3024403) Complement+Immunoglobulin [Units/volume] in Red Blood Cells

2.05

1.01

1.4

2.0

—

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

109

1.63

0.98

3.9

3.5

—

(3044640) Blood type and Crossmatch panel - Blood

374

1.37

0.97

3.5

2.1

—

(40768804) Tissue Pathology biopsy report

480

1.34

0.93

2.3

2.2

—

(3018095) Leukocytes [#/volume] in Urine

433

1.35

0.93

5.2

3.5

32.5

76.8

e6/l

0.75

314

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

2.11

0.90

1.3

3.9

12.5

42.3

u/ml

—

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

111

0.52

0.87

1.8

1.6

—

(21494755) Public health laboratory ask at order entry panel

114

0.51

0.87

1.0

1.4

—

(3013115) Eosinophils [#/volume] in Blood

630

1.31

0.86

12.3

6.3

0.2

e9/l

0.77

562

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

1.78

0.84

2.5

1.8

—

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

272

1.37

0.83

4.6

3.9

—

(3006315) Basophils [#/volume] in Blood

613

1.30

0.83

12.1

5.6

0.0

e9/l

0.32

540

(3019198) Lymphocytes [#/volume] in Blood

623

1.30

0.82

12.2

5.7

2.4

1.9

e9/l

0.51

558

(3020891) Body temperature

1.70

0.80

3.4

4.4

—

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

274

1.36

0.80

3.3

1.8

1.3

mg/l

0.04

220

(40768800) Prostate Pathology biopsy report

0.00

0.80

0.0

1.2

—

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

1.80

0.77

4.0

2.8

—

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

809

1.28

0.74

6.3

4.3

—

3504.5

—

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

2.03

0.73

1.0

—

(3001604) Monocytes [#/volume] in Blood

611

1.27

0.73

12.3

5.5

0.7

0.6

e9/l

1.95

538

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

1.74

0.71

1.9

2.0

—

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

1.70

0.69

1.1

1.2

—

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

1.70

0.69

1.1

1.2

—

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

1.70

0.69

1.1

1.2

—

(40766189) Gliadin peptide IgG Ab [Units/volume] in Serum by Immunoassay

1.66

0.68

1.1

—

14.9

—

(3004588) Protein electrophoresis panel - Serum or Plasma

1.56

0.65

1.2

2.7

—

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

110

1171

0.78

0.65

5.2

4.5

6.3

5.9

mmol/l

1.78

1088

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

1.60

0.61

2.5

1.9

—

(3039443) Prostate specific Ag panel - Serum or Plasma

0.00

0.60

0.0

1.5

—

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

613

1.23

0.59

4.6

3.8

0.0

estimate

0.00

107

(3021589) Normoblasts [#/volume] in Blood

535

1.24

0.58

15.5

9.5

0.0

e9/l

0.51

437

(3006504) Eosinophils/100 leukocytes in Blood

566

1.23

0.56

12.1

5.6

3.0

2.6

0.71

529

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

243

1.29

0.55

1.8

1.3

2.4

2.5

g/l

0.17

145

(42870588) Differential panel, method unspecified - Blood

396

1.23

0.52

12.3

5.3

—

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

110

1.40

0.51

1.4

1.6

—

(3049717) Cytology report of Urine Cyto stain

1.55

0.49

1.9

2.8

—

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

306

0.78

0.49

3.6

4.6

16.2

19.9

—

155

(3037522) Nuclear Ab [Titer] in Serum

156

1.33

0.48

1.8

1.4

173.3

569.5

titre

—

(3019309) Folate [Moles/volume] in Red Blood Cells

230

1.27

0.47

2.2

1.7

1566.3

1197.5

nmol/l

0.61

180

(40760892) CBC W Ordered Manual Differential panel - Blood

272

0.78

0.46

9.7

4.9

—

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

125

1298

0.79

0.46

18.3

10.2

29.1

25.5

u/l

1.63

120

1260

(40768443) Skin Pathology biopsy report

1.42

0.45

1.4

1.2

—

(3009542) Hematocrit [Volume Fraction] of Blood

114

1081

1.22

0.45

32.6

15.8

38.9

39.5

0.31

808

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

227

0.76

0.44

2.2

3.0

0.6

0.7

ug/l

0.78

154

(3005322) IgE [Units/volume] in Serum or Plasma

1.46

0.43

1.9

1.2

501.5

128.6

u/ml

—

(36305247) Microscopic observation [Identifier] in Isolate by Gram stain

1.53

0.41

1.4

1.3

—

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

0.00

0.41

0.0

1.5

—

(1617658) Protocol used for examination of sentinel lymph nodes

0.00

0.41

0.0

1.1

—

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

0.00

0.41

0.0

1.2

—

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

551

1.18

0.41

5.4

4.3

—

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

1.49

0.40

1.0

1.1

—

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

291

1.22

0.40

1.9

1.5

17.3

22.5

nmol/l

1.75

249

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

1.33

0.40

1.0

—

(3005570) Glucose [Moles/volume] in Urine

0.00

0.40

0.0

2.5

—

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

1.39

0.39

1.1

1.3

—

(3044889) 12 lead EKG panel

882

1.17

0.39

4.7

3.6

—

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

604

1.16

0.37

4.8

3.8

0.0

estimate

0.00

110

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

378

0.84

0.35

5.2

5.0

4.9

3.0

ug/l

0.27

343

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

108

1128

0.85

0.35

22.1

13.1

81.9

80.2

ml/min/173m2

0.38

921

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

490

0.86

0.34

5.5

3.9

—

(4035726)

119

1.29

0.33

1.1

1.3

—

(3000494) Fungus identified in Specimen by Culture

156

1.25

0.33

1.5

1.6

—

(3003785) Carcinoembryonic Ag [Mass/volume] in Serum or Plasma

138

1.26

0.32

6.1

4.2

3.2

58.8

ug/l

0.58

114

(3041096) Erythrocytes [Presence] in Urine by Automated

351

0.85

0.29

4.6

3.3

—

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

215

1.20

0.29

1.3

28.2

38.7

iu/ml

0.40

(3000492) Spirometry study

117

0.75

0.28

1.9

1.4

—

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

604

1.13

0.28

6.1

5.2

0.0

estimate

0.00

107

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

915

1.14

0.28

4.8

3.9

15.1

14.8

pmol/l

0.52

838

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

236

1.18

0.26

4.1

3.0

2.5

mmol/l

0.59

207

(36660697) Celiac disease serology panel - Serum

1.27

0.25

1.3

1.1

—

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

336

0.87

0.25

7.3

3.9

0.0

estimate

0.00

107

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

1.20

0.21

1.6

1.5

—

(3037467) Urinalysis macro (dipstick) panel - Urine

842

1.11

0.21

7.6

4.1

—

(4010399)

1.25

0.21

1.8

1.3

—

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

0.00

0.21

0.0

1.0

—

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

0.00

0.21

0.0

1.5

—

(3048821) Cortisol [Moles/volume] in Serum or Plasma --post 1 mg dexamethasone PO overnight

0.00

0.21

0.0

1.6

—

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

0.00

0.21

0.0

2.8

—

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

0.00

0.21

0.0

1.9

—

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

0.00

0.21

0.0

1.1

—

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

0.00

0.21

0.0

1.2

—

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

0.00

0.21

0.0

1.9

—

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

0.00

0.21

0.0

1.9

—

(3036535) Thyroglobulin [Mass/volume] in Serum or Plasma

0.00

0.21

0.0

6.3

—

(43055225) Phosphorylated tau 181 [Mass/volume] in Cerebral spinal fluid by Immunoassay

0.00

0.21

0.0

1.1

—

29.2

—

(3000242) Tau protein [Mass/volume] in Cerebral spinal fluid

0.00

0.21

0.0

1.0

—

245.3

—

(3042810) Amyloid beta 42 peptide [Mass/volume] in Cerebral spinal fluid

0.00

0.21

0.0

1.0

—

532.4

—

(3023410) Appearance of Cerebral spinal fluid

0.00

0.21

0.0

1.2

—

(3051014) Leukocytes [#/area] in Urine sediment by Automated count

0.00

0.21

0.0

1.8

—

4.0

—

(3008898) HLA-B27 [Presence]

1.26

0.20

1.0

—

(3027544) Mycobacterium sp identified in Sputum by Organism specific culture

0.00

0.20

0.0

3.2

—

(3019832) Treponema pallidum Ab [Presence] in Serum

0.76

0.17

1.0

1.7

—

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

422

1.09

0.16

3.9

3.4

2.4

2.3

mmol/l

1.08

368

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

504

1.08

0.13

3.3

2.3

80.3

75.4

nmol/l

0.51

451

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

1.17

0.10

1.6

—

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

748

1.06

0.10

3.5

3.0

—

(3034780) Angiotensin converting enzyme [Enzymatic activity/volume] in Serum or Plasma

1.14

0.10

4.6

1.3

40.4

37.0

u/l

—

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

1.11

0.10

1.2

1.0

—

(3022145) Colonoscopy Study observation

145

1.12

0.10

1.3

—

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

204

1.09

0.09

1.2

1.3

7.9

10.5

u/ml

—

(3019225) pH of Specimen

107

1.13

0.09

2.9

3.3

—

(1002224) Polysomnography panel

1.07

0.09

1.2

1.1

—

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

123

1213

1.08

0.09

30.0

14.5

30.1

23.1

mg/l

1.35

109

976

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

481

1.06

0.08

5.9

4.0

21.8

34.8

ng/l

0.76

321

(3000330) Specific gravity of Urine by Test strip

1.04

0.08

2.0

4.2

—

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

0.77

0.08

2.4

1.5

—

(3016251) Hemoglobin.gastrointestinal [Presence] in Stool

1.08

0.08

1.9

2.3

—

(3022621) pH of Urine by Test strip

1.10

0.07

1.9

2.6

—

(3033319) Streptococcus pyogenes Ag [Presence] in Throat

0.86

0.07

1.0

1.3

—

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

322

0.95

0.04

1.8

1.7

1.5

1.3

mmol/l

0.83

276

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

112

1108

1.04

0.04

6.0

4.7

1.9

mu/l

0.03

101

1022

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

819

0.98

0.02

4.8

2.8

62.3

45.5

u/l

1.31

769

(3026008) Bacteria identified in Urine by Culture

383

1.02

0.01

4.9

2.9

—

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

144

1.05

0.00

13.7

7.8

—

(3017181) Myelocytes/100 leukocytes in Blood

1.01

0.00

4.6

4.2

0.2

1.1

—

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

183

0.98

0.00

1.4

—

(3013512) EKG study

353

0.99

0.00

4.5

4.0

—

(40761535) Cells panel - Urine sediment

102

0.98

0.00

5.6

3.5

—

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

172

0.99

0.00

1.4

1.8

—

(40761511) CBC panel - Blood by Automated count

127

1272

0.99

0.00

22.2

13.2

—

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

0.00

0.0

2.0

—

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

0.00

0.0

1.0

—

(4027681)

0.00

0.0

1.0

—

(3029075) Extractable nuclear Ab panel - Serum

0.00

0.0

1.0

—

(3002619) Bacteria identified in Specimen by Culture

0.00

0.0

1.0

—

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

0.00

0.0

1.0

—

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

0.00

0.0

1.0

—

(3033386) Bacteria [Presence] in Cerebral spinal fluid by Light microscopy

0.00

0.0

1.3

—

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

0.00

0.0

1.0

—

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

0.00

0.0

1.0

—

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

0.00

0.0

2.0

—

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

0.00

0.0

1.3

—

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

0.00

0.0

1.6

—

(3006653) Thiamine [Moles/volume] in Blood

0.00

0.0

1.3

—

115.4

—

(4198724)

0.00

0.0

1.2

—

(3026470) Cobalt [Mass/volume] in Blood

0.00

0.0

1.6

—

1.0

—

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

0.00

0.0

2.0

—

(3000012) Reticulocyte production index

0.00

0.0

2.7

—

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

0.00

0.0

2.0

—

(3016436) Lactate dehydrogenase [Enzymatic activity/volume] in Serum or Plasma

0.00

0.0

8.2

—

248.4

—

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

0.00

0.0

2.0

—

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

0.00

0.0

1.8

—

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

0.00

0.0

1.2

—

29.5

—

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

0.00

0.0

1.2

—

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

0.00

0.0

1.3

—

(3045716) Anion gap in Serum or Plasma

0.00

0.0

3.5

—

9.5

—

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

0.00

0.0

1.3

—

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

0.00

0.0

1.0

—

(3035880) pH of Pleural fluid

0.00

0.0

1.1

—

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

0.00

0.0

3.4

—

(3013727) Leukocytes other/100 leukocytes in Blood

0.00

0.0

6.3

—

44.5

—

(3051593) INR in Capillary blood by Coagulation assay

0.00

0.0

10.1

—

(3015183) Erythrocyte sedimentation rate

0.00

0.0

1.2

—

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

0.00

0.0

3.4

—

(3035933) Granulocytes/100 leukocytes in Blood

0.00

0.0

1.0

—

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

0.00

0.0

1.0

—

(3008364) Apolipoprotein A-I [Mass/volume] in Serum or Plasma

0.00

0.0

1.5

—

(3047189) Immunofixation for 24 hour Urine

0.00

0.0

1.8

—

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

0.00

0.0

1.0

—

(40761536) Microorganisms panel - Urine sediment

0.99

0.00

10.9

3.4

—

(44813793)

0.00

0.0

1.0

—

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

0.00

0.0

1.3

—

128.7

—

(3021162) Amylase [Enzymatic activity/volume] in Specimen

0.00

0.0

2.2

—

14562.2

—

(3017569) Oxygen content in Arterial blood

0.00

0.0

2.4

—

(3030429) Borrelia sp DNA [Identifier] in Specimen by NAA with probe detection

0.00

0.0

1.0

—

(21491868) Cryoglobulin [Mass/volume] in Serum

0.00

0.0

1.0

—

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

0.00

0.0

1.3

—

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

0.00

0.0

2.0

—

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

0.00

0.0

1.7

—

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

0.00

0.0

1.0

—

(4034850)

1.02

0.00

8.4

14.2

—

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

0.00

0.0

1.0

—

214.0

—

(40757349) CD3+CD4+ (T4 helper) cells/CD3+CD8+ (T8 suppressor cells) cells [# Ratio] in Blood

0.00

0.0

1.3

—

(3016018) Differential panel - Cerebral spinal fluid

0.00

0.0

1.1

—

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

0.00

0.0

2.0

—

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

0.00

0.0

1.2

—

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

0.00

0.0

1.3

—

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

0.00

0.0

1.4

—

1.0

—

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

0.00

0.0

1.6

—

Mortality – FinRegistry

↥

Association

Association between endpoint D3_NEFELOF and mortality.

Females

Parameter	HR [95% CI]	p-value
D3_NEFELOF	2.605 [2.14, 3.17]	< 0.001
Birth year	0.995 [0.99, 1.0]	0.251

During the follow-up period (1.1.1998 — 31.12.2019), 196 out of 545 females with D3_NEFELOF died.

Males

Parameter	HR [95% CI]	p-value
D3_NEFELOF	2.144 [1.72, 2.67]	< 0.001
Birth year	0.985 [0.98, 0.99]	0.002

During the follow-up period (1.1.1998 — 31.12.2019), 232 out of 494 males with D3_NEFELOF died.

Mortality risk

Mortality risk for people of age

years, who have D3_NEFELOF.

N-year risk	Females	Males
1	0.214%	0.381%
5	1.519%	2.293%
10	3.579%	5.701%
15	7.055%	11.045%
20	12.424%	18.225%

Relationships between endpoints

↥

Index endpoint: D3_NEFELOF – Nezelof syndrome

GWS hits: 1

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

Nezelof 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 (R11)

Matched cohort

LabWAS

Mortality – FinRegistry

Association

Females

Males

Mortality risk

Relationships between endpoints