Nezelof syndrome

D3_NEFELOF

No definition available.

Endpoint definition

↥

Report an error or suggest an improvement for this endpoint codes

Endpoint definition steps	FinnGen
Phenotype data	557745
1. Apply sex-specific rule None	557745
2. Check conditions None	557745
3. Check pre-conditions, main-only, mode, registry filters Registry filters: Hospital discharge: ICD-10 — D81.4 Cause of death: ICD-10 — D81.4 2 out of 7 registries used, show all original rules.	167
4. Check minimum number of events None	167
5. Include endpoints None	167
6. Filter based on genotype QC (FinnGen only)	149

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	149	87	62
Unadjusted period prevalence (%)	0.03	0.03	0.03
Median age at first event (years)	54.96	51.55	59.75

-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

↥

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
152: Matched controls
1520

Code

Vocabulary

Description

Odds Ratio

-log₁₀(p)

N matched cases

N matched controls

D81.4

ICD-10 Finland

Nezelof syndrome

+∞

219.7

152

T81.4

ICD-10 Finland

Infection following a procedure, not elsewhere classified

26.5

98.3

100

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

16.1

57.6

TPH15

NOMESCO Finland

Insertion of central venous catheter through external or internal jugular vein

7.9

19.1

WX408

NOMESCO Finland

General anesthesy, balanced

4.4

17.8

242

ZXE20

NOMESCO Finland

More than three and less than five hours

5.0

17.0

117

ZXD05

NOMESCO Finland

Urgent procedure

4.0

15.9

326

WX700

NOMESCO Finland

Respiratory and circulatory monitoring

4.5

15.6

140

ZXE10

NOMESCO Finland

More than one and less than three hours

3.7

14.1

376

GD1UA

NOMESCO Finland

Thorax X-ray examination outside radiological department

4.0

13.4

161

GD1QA

NOMESCO Finland

Supine thorax X-ray examination

3.8

12.5

174

QDB10

NOMESCO Finland

Major dressing of wound of skin of lower limb

9.7

11.0

JN3AE

NOMESCO Finland

Abdominal ultrasound examination

4.2

10.8

J01MA12

ATC

levofloxacin; systemic

3.4

10.3

182

J01FF01

ATC

clindamycin; systemic

3.0

9.9

287

NA3AA

NOMESCO Finland

Lumbar spine X-ray examination without contrast

4.3

9.5

WX404

NOMESCO Finland

Intravenous generell anesthesy

3.2

9.4

198

JN3BD

NOMESCO Finland

Extensive abdominal CT

3.9

8.6

I70.2

ICD-10 Finland

Atherosclerosis of arteries of extremities

4.0

8.6

ZXA00

NOMESCO Finland

Right side

2.8

8.5

292

GD1PA

NOMESCO Finland

X-ray examination of the lungs in one projection

3.7

8.4

M01AH01

ATC

celecoxib; oral

3.2

8.3

159

Z3226

NOMESCO Finland

Physiotherapist

3.1

8.2

179

WX002

NOMESCO Finland

Sedation and analgesia

3.0

8.0

181

ZXD10

NOMESCO Finland

Scheduled procedure

2.6

7.8

404

T81.3

ICD-10 Finland

Disruption of operation wound, not elsewhere classified

10.9

7.7

X59

ICD-10 Finland

Exposure to unspecified factor

2.9

7.7

185

TPH04

NOMESCO Finland

Cathetrisation of vein

2.8

7.4

223

ZXD35

NOMESCO Finland

Usual procedure

7.6

7.2

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

14.7

7.0

JN1AE

NOMESCO Finland

Ultrasound examination of upper part of abdomen

3.6

6.9

QDG20

NOMESCO Finland

Operation for chronic ulcer or fistula of skin of lower limb

42.0

6.8

ZZA00

NOMESCO Finland

Split skin graft

8.4

6.8

ZXE30

NOMESCO Finland

More than five and less than seven hours

6.2

6.7

N02AX02

ATC

tramadol; systemic, rectal

2.4

6.6

505

J01DA01

ATC

[U] cefalexin

2.6

6.6

112

781

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

8.0

6.6

R50.9

ICD-10 Finland

Fever, unspecified

2.9

6.4

149

Z3231

NOMESCO Finland

Registered nurse

2.5

6.4

305

N03AX16

ATC

[U] pregabalin

2.6

6.3

224

ZXA05

NOMESCO Finland

Left side

2.5

6.3

268

A10AE04

ATC

insulin glargine; parenteral

3.5

6.3

WZC10

NOMESCO Finland

Written specialist consultation based on a referral from a dentist or a physician

6.3

6.0

LabWAS

↥

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

151

2.81

6.23

3.0

1.6

—

(3023368) Bacteria identified in Blood by Culture

373

2.24

5.38

5.5

4.2

—

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

342

2.13

4.60

3.9

2.1

2.90

3.06

mg/l

0.20

304

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

151

2.42

4.29

3.8

2.7

4.53

7.74

umol/l

1.19

131

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

156

2.24

3.57

2.4

1.8

—

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

219

2.05

3.40

2.6

1.8

—

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

163

2.13

3.20

2.4

1.7

—

(3042936) Bacteria identified in Isolate by Culture

201

2.04

3.18

2.7

2.1

—

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

272

1.93

3.18

5.1

3.5

405.12

313.07

ng/l

0.11

205

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

2.69

3.17

1.5

1.3

—

(3013139) Helicobacter pylori Ag [Presence] in Stool

2.54

3.13

1.2

1.3

—

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

585

1.78

3.03

2.5

2.2

94.83

94.80

pmol/l

0.00

308

(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

3.03

2.1

1.6

—

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

2.38

3.00

2.0

1.4

—

(1761868) Lipid panel - Serum or Plasma

513

0.50

2.95

3.7

3.1

—

(40758558) Short blood count panel - Blood

415

1.78

2.93

11.7

7.2

—

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

186

1.99

2.82

25.0

6.9

104.79

104.06

mmol/l

0.31

186

(3020427) Coagulation factor X inhibitor [Units/volume] in Platelet poor plasma by Coagulation assay

3.31

2.71

2.5

2.7

0.48

0.38

iu/ml

—

(1616796) Gas panel - Central venous blood

4.16

2.60

2.3

2.7

—

(3019977) pH of Arterial blood

154

2.00

2.56

13.6

11.5

7.42

0.10

(3009508) Creatinine [Moles/volume] in Urine

439

1.70

2.52

3.6

2.9

7.66

7.87

mmol/l

0.12

367

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

220

1.83

2.41

3.6

2.8

0.82

1.07

e6/l

0.28

111

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

614

1.64

2.34

16.8

6.8

1.21

mmol/l

0.08

566

(3019060) Gas panel - Arterial blood

2.21

2.28

5.9

10.0

—

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

232

1.79

2.28

5.8

3.0

0.79

0.82

mmol/l

0.75

219

(3042631) Mycobacterium sp identified in Specimen

5.70

2.23

1.2

4.3

—

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

163

1.88

2.17

3.2

5.6

0.96

1.05

mmol/l

1.40

146

(3007778) Kappa light chains/Lambda light chains [Mass Ratio] in Serum

2.82

2.11

1.1

4.3

1.28

4.19

ratio

—

(3025941) Bacteria identified in Stool by Culture

2.20

2.05

1.0

1.2

—

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

777

1.59

2.02

15.7

10.8

5.13

4.13

e9/l

2.55

678

(3012516) Albumin [Mass/volume] in Urine

415

1.60

1.99

3.8

3.0

73.42

47.47

mg/l

0.37

278

(37020957) Sapovirus genogroups I+II+IV+V RNA [Presence] in Stool by NAA with probe detection

4.66

1.95

1.4

1.3

—

(42869457) Rotavirus RNA [Identifier] in Stool by NAA with probe detection

4.66

1.95

1.4

1.3

—

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

116

1.94

1.90

3.9

2.5

2.79

6.19

ug/l

2.40

104

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

207

1.69

1.76

3.6

2.9

3.47

2.44

e6/l

0.29

100

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

112

1244

0.62

1.72

5.5

5.2

1.35

1.47

mmol/l

2.51

100

1154

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

674

1.51

1.71

16.5

7.7

1.21

mmol/l

0.02

590

(3020682) Albumin/Creatinine [Ratio] in Urine

429

1.53

1.68

4.4

3.6

12.11

7.77

mg/mmol

0.32

271

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

3.08

1.59

1.5

1.2

—

(3000991) Gas panel - Venous blood

108

1.87

1.59

40.2

9.3

—

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

791

1.49

1.58

13.9

5.5

7.37

6.56

mmol/l

2.30

749

(3013115) Eosinophils [#/volume] in Blood

711

1.48

1.58

12.5

6.9

0.22

0.18

e9/l

1.29

625

(3002032) Base excess in Venous blood by calculation

132

1.78

1.56

25.7

3.3

0.66

2.06

mmol/l

1.52

111

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

380

1.51

1.56

4.8

3.0

0.28

0.38

e6/l

0.42

279

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

2.25

1.54

2.9

2.0

0.38

6.41

ug/l

0.55

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

3.41

1.53

1.4

1.3

—

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

3.41

1.53

1.4

1.3

—

(3018333) Ribosomal P Ab [Presence] in Serum

3.41

1.53

1.4

1.3

—

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

3.41

1.53

1.4

1.3

—

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

3.41

1.53

1.4

1.3

—

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

2.93

1.52

1.3

1.2

—

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

116

1025

1.56

1.50

15.3

8.2

77.99

77.87

u/l

0.01

110

965

(3018418) pH of Serum or Plasma

430

1.48

1.47

6.3

4.0

7.40

7.39

0.15

300

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

2.39

1.46

3.3

1.9

23.94

24.29

mmol/l

—

(3015916) Alpha-1-Fetoprotein [Units/volume] in Serum or Plasma

3.19

1.45

4.0

1.5

3.34

7.48

u/ml

—

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

108

1197

0.66

1.43

4.4

1.63

1.27

mmol/l

4.00

1103

(3014007) Fractional oxyhemoglobin in Arterial blood

1.92

1.41

15.9

11.6

94.34

92.82

0.62

(3007566) Smooth muscle Ab [Titer] in Serum

2.48

1.41

2.1

1.2

—

106.00

—

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

204

0.50

1.39

1.7

1.5

—

(3012544) pH of Venous blood

137

1.71

1.39

25.9

3.4

7.35

7.40

—

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

3.00

1.37

1.4

1.2

—

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

2.16

1.33

1.2

1.1

—

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

2.56

1.31

1.0

1.3

—

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

2.84

1.29

1.4

1.2

—

(3004588) Protein electrophoresis panel - Serum or Plasma

1.81

1.27

1.3

2.8

—

(3021901) Oxygen saturation in Capillary blood

2.46

1.25

3.7

1.9

87.27

91.58

—

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

451

1.42

1.25

3.2

1038.63

1186.23

ng/l

0.20

389

(3002256) Pathology report gross observation

166

1.61

1.25

1.4

1.3

—

(40768804) Tissue Pathology biopsy report

517

1.41

1.25

2.3

2.2

—

(3001604) Monocytes [#/volume] in Blood

693

1.40

1.23

12.6

6.1

0.67

0.58

e9/l

2.08

601

(3019198) Lymphocytes [#/volume] in Blood

703

1.40

1.22

12.6

6.2

2.29

1.86

e9/l

0.58

621

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

2.68

1.22

1.0

1.5

—

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

2.68

1.22

1.0

1.5

—

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

345

0.64

1.20

1.4

—

(3032080) INR in Blood by Coagulation assay

636

1.39

1.19

26.7

13.3

1.31

1.27

inr

0.24

516

(3006315) Basophils [#/volume] in Blood

696

1.39

1.18

12.6

6.2

0.05

0.04

e9/l

0.67

600

(3020891) Body temperature

1.92

1.17

3.3

4.0

36.99

36.97

°c

0.16

(3021952) Alkaline phosphatase isoenzymes [Enzymatic activity/volume] in Serum or Plasma by Heat stability

2.55

1.16

1.4

1.5

—

(3002582) Erythrocytes [#/volume] in Urine

447

1.40

1.16

4.6

3.2

17.55

199.85

e6/l

0.68

344

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

310

1.44

1.14

1.4

1.3

0.51

1.82

u/ml

1.48

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

2.40

1.14

1.1

1.4

—

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

118

1272

0.68

1.13

6.2

5.9

2.48

2.70

mmol/l

1.89

107

1181

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

621

1.37

1.13

4.5

3.0

119.72

112.84

ug/l

0.10

588

(3034770) Mitochondria Ab [Titer] in Serum

2.17

1.07

2.1

1.2

—

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

1.76

1.05

1.4

1.5

—

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

2.11

1.04

1.7

1.2

—

(3022313) Gas panel - Capillary blood

1.91

0.99

3.5

2.5

—

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

1.99

0.98

1.0

1.1

—

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

1.99

0.98

1.4

1.6

—

(40768797) Stomach Pathology biopsy report

185

1.49

0.98

1.5

1.2

—

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

1.93

0.95

1.4

2.1

—

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

303

1.39

0.93

3.1

2.2

—

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

117

1253

0.71

0.92

5.3

4.35

4.63

mmol/l

2.36

110

1168

(3023520) Reticulocytes [#/volume] in Blood

111

1.60

0.92

2.3

3.2

80.96

71.53

e9/l

0.36

(3021589) Normoblasts [#/volume] in Blood

599

1.31

0.88

17.1

11.9

0.00

e9/l

0.51

481

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

389

1.34

0.88

1.9

1.7

17.00

21.94

nmol/l

2.10

335

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

165

1.46

0.84

1.7

1.6

—

(3028626) Oxygen [Partial pressure] in Capillary blood

1.91

0.82

3.8

1.7

7.72

8.16

kpa

—

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

1.91

0.82

1.3

4.0

12.50

40.30

u/ml

—

(3008230) Borrelia burgdorferi IgM Ab [Units/volume] in Serum

0.49

0.81

1.8

2.5

—

15.26

—

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

124

1.51

0.79

3.8

3.5

—

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

887

1.30

0.77

6.4

4.6

—

4506.47

—

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

2.12

0.75

1.0

1.4

—

(3018095) Leukocytes [#/volume] in Urine

512

1.28

0.75

5.3

3.9

32.39

106.87

e6/l

1.16

361

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

143

1.46

0.75

1.9

1.5

—

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

1.88

0.74

1.4

1.5

—

(3019230) Fractional oxyhemoglobin in Venous blood

2.03

0.73

102.8

2.2

67.20

59.50

—

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

2.03

0.73

1.4

1.5

—

(3045414) Leukocytes [Presence] in Urine

118

1.50

0.73

2.5

2.0

0.00

estimate

—

(21494755) Public health laboratory ask at order entry panel

116

0.58

0.71

1.0

1.4

—

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

119

1.48

0.70

1.4

1.5

—

(42870588) Differential panel, method unspecified - Blood

449

1.28

0.69

13.0

5.7

—

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

308

1.31

0.69

3.6

1.8

1.29

1.42

mg/l

0.13

254

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

114

1212

0.76

0.69

6.0

5.2

6.28

5.90

mmol/l

1.93

105

1132

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

322

0.73

0.69

3.9

4.9

19.70

20.41

0.06

168

(3041096) Erythrocytes [Presence] in Urine by Automated

418

0.76

0.68

4.9

3.3

0.00

0.01

estimate

—

118

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

1.66

0.68

1.1

1.2

—

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

1.66

0.68

1.1

1.2

—

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

1.66

0.68

1.1

1.2

—

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

563

0.78

0.67

5.8

3.9

0.00

0.02

estimate

0.50

123

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

1.81

0.67

1.2

1.1

—

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

1.62

0.66

1.1

1.2

—

14.90

—

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

1.67

0.63

2.5

1.8

—

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

1.54

0.62

1.8

1.2

425.13

408.36

u/ml

0.02

(3049717) Cytology report of Urine Cyto stain

1.60

0.61

1.9

2.7

—

(3000494) Fungus identified in Specimen by Culture

176

1.36

0.61

1.5

—

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

401

0.77

0.61

6.0

5.6

4.80

2.91

ug/l

0.26

364

(3005570) Glucose [Moles/volume] in Urine

0.00

0.61

0.0

2.4

—

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

1.57

0.60

1.1

1.0

—

(3039443) Prostate specific Ag panel - Serum or Plasma

0.00

0.60

0.0

1.5

—

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

1.74

0.58

1.3

1.5

—

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

1.51

0.58

2.5

1.9

—

(3044640) Blood type and Crossmatch panel - Blood

421

1.24

0.56

3.6

2.2

—

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

1.50

0.55

1.2

1.1

—

(3037522) Nuclear Ab [Titer] in Serum

189

1.32

0.54

1.8

1.4

194.29

584.31

titre

—

(3009035) Cobalamin (Vitamin B12) [Moles/volume] in Serum or Plasma

272

1.27

0.53

1.7

428.36

469.31

pmol/l

0.37

234

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

1.52

0.52

1.0

1.1

—

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

404

0.80

0.52

7.5

4.0

0.00

0.02

estimate

0.50

129

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

243

0.75

0.51

2.5

3.2

0.63

0.75

ug/l

0.44

164

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

284

1.25

0.50

1.9

1.3

2.38

2.50

g/l

0.13

174

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

592

1.20

0.49

3.3

2.6

81.27

76.31

nmol/l

0.62

543

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

322

1.24

0.49

4.8

4.0

—

0.29

—

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

1.55

0.49

3.6

2.6

—

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

230

1.27

0.47

2.2

1.7

1577.78

1197.53

nmol/l

0.64

180

(3008898) HLA-B27 [Presence]

1.39

0.44

1.0

1.1

—

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

269

1.24

0.44

1.3

26.55

35.67

iu/ml

0.40

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

241

1.25

0.44

1.2

1.3

6.70

10.83

u/ml

—

(40768443) Skin Pathology biopsy report

1.40

0.42

1.5

1.2

—

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

1.53

0.41

1.4

1.5

—

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

0.00

0.41

0.0

1.1

—

617.00

—

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

0.00

0.41

0.0

1.1

—

258.00

—

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

0.00

0.41

0.0

1.1

—

28.81

—

(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

—

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

0.00

0.41

0.0

1.7

—

(3027545) Mycoplasma pneumoniae Ab [Presence] in Serum by Immunoassay

1.44

0.39

1.2

1.5

—

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

1.39

0.39

1.0

—

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

1.34

0.38

1.1

1.3

—

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

727

0.86

0.37

5.7

3.9

0.00

estimate

-0.00

137

(4035726) Immunohistochemistry procedure

127

1.29

0.35

1.1

1.3

—

(36660697) Celiac disease serology panel - Serum

109

1.31

0.35

1.2

1.1

—

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

1.38

0.35

2.0

3.0

1.45

1.65

mmol/l

—

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

1.35

0.34

1.0

2.6

0.00

g/l

—

(40760892) CBC W Ordered Manual Differential panel - Blood

303

0.83

0.33

9.2

5.2

—

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

880

1.15

0.31

4.8

3.1

60.39

46.77

u/l

1.11

835

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

477

1.14

0.27

3.7

3.5

2.39

2.35

mmol/l

1.27

435

(3000492) Spirometry study

136

0.79

0.24

1.9

1.4

—

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

1.33

0.23

2.0

1.2

—

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

1.33

0.23

1.4

—

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

0.00

0.21

0.0

1.8

—

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

0.00

0.21

0.0

1.8

—

(3016018) Differential panel - Cerebral spinal fluid

0.00

0.21

0.0

1.1

—

(3003888) Timothy IgE Ab [Units/volume] in Serum

0.00

0.21

0.0

1.1

—

2.11

—

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

0.00

0.21

0.0

1.0

—

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

0.00

0.21

0.0

1.1

—

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

0.00

0.21

0.0

1.3

—

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

0.00

0.21

0.0

1.8

—

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

0.00

0.21

0.0

1.2

—

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

0.00

0.21

0.0

1.9

—

7.20

—

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

0.00

0.21

0.0

1.2

—

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

—

3.29

—

(3014051) Protein [Presence] in Urine by Test strip

387

1.12

0.20

3.1

—

0.20

—

(3022145) Colonoscopy Study observation

165

1.17

0.20

1.3

1.4

—

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

604

1.10

0.20

3.7

2.8

—

estimate

—

(3023410) Appearance of Cerebral spinal fluid

0.00

0.20

0.0

1.1

—

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

1.23

0.20

4.5

1.3

38.67

37.33

u/l

—

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

1.23

0.20

1.7

1.6

—

(4024509) Urine culture

1.20

0.18

2.3

1.8

—

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

733

0.92

0.17

5.4

4.0

0.00

11.52

estimate

0.50

141

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

0.72

0.17

2.4

1.5

—

(3016251) Hemoglobin.gastrointestinal [Presence] in Stool

1.17

0.17

1.9

2.3

—

(3033319) Streptococcus pyogenes Ag [Presence] in Throat

117

0.84

0.13

1.3

—

(3015736) pH of Urine

585

1.07

0.12

4.8

3.6

6.37

6.20

0.49

337

(40761511) CBC panel - Blood by Automated count

128

1299

0.91

0.11

23.5

14.6

—

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

776

1.07

0.11

3.5

3.1

—

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

741

0.95

0.09

5.4

4.0

0.00

estimate

-0.00

136

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

156

1.10

0.08

7.3

4.3

3.54

54.67

ug/l

0.60

126

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

538

0.95

0.08

6.1

4.2

22.88

33.53

ng/l

0.69

373

(1002224) Polysomnography panel

0.84

0.08

1.3

1.1

—

(3019832) Treponema pallidum Ab [Presence] in Serum

0.80

0.08

1.0

1.7

—

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

557

0.95

0.07

2.2

2.0

1.62

1.29

mmol/l

2.01

475

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

203

0.93

0.06

1.4

1.8

—

(4010399) Spirometry for bronchospasm with prolonged evaluation after bronchodilator

111

1.09

0.04

1.8

1.3

—

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

116

1171

0.96

0.04

6.9

5.5

1.90

1.92

mu/l

0.07

107

1089

(3002179) Metamyelocytes/Leukocytes in Blood

112

1.08

0.03

4.9

4.6

0.40

0.57

—

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

282

1.04

0.02

4.1

3.0

2.49

2.46

mmol/l

0.53

252

(3019150) Specific gravity of Urine by Refractometry

318

0.97

0.02

5.2

4.3

1.02

kg/l

0.12

215

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

986

0.98

0.00

5.6

4.5

14.99

14.80

pmol/l

0.31

911

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

146

1.03

0.00

13.7

7.7

—

(3025159) Blasts/Leukocytes in Blood

119

1.01

0.00

6.3

5.1

0.00

0.26

—

(3017181) Myelocytes/Leukocytes in Blood

121

0.99

0.00

5.0

4.6

0.20

1.12

—

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

126

1257

1.01

0.00

34.2

16.8

30.05

23.67

mg/l

1.25

113

1056

(3026008) Bacteria identified in Urine by Culture

425

0.98

0.00

5.0

3.1

—

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

205

1.03

0.00

1.5

—

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

0.00

0.0

1.0

—

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

0.00

0.0

1.0

—

(4034850) Laboratory test

1.02

0.00

8.4

14.4

—

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

0.00

0.0

2.0

—

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

0.00

0.0

2.5

—

12153.67

—

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

0.00

0.0

1.0

—

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

0.00

0.0

7.3

—

228.17

—

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

0.00

0.0

2.0

—

(3009306) Alpha-1-Fetoprotein [Mass/volume] in Serum or Plasma

0.00

0.0

1.8

—

4.65

—

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

0.00

0.0

2.0

—

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

0.00

0.0

2.0

—

(21491868) Cryoglobulin [Mass/volume] in Serum

0.00

0.0

1.0

—

(3047189) Immunofixation for 24 hour Urine

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

—

(3013727) Leukocytes other/Leukocytes in Blood

0.00

0.0

6.3

—

44.50

—

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

0.00

0.0

1.2

—

8.67

—

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

0.00

-0.00

0.0

2.0

—

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

0.00

-0.00

0.0

1.3

—

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

0.00

-0.00

0.0

1.2

—

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

0.00

-0.00

0.0

1.3

—

(3017569) Oxygen content in Arterial blood

0.00

-0.00

0.0

2.2

—

15.22

—

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

0.00

-0.00

0.0

4.1

—

10.40

—

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

0.00

-0.00

0.0

1.0

—

(44813793) Dust mix specific IgE antibody measurement

0.00

-0.00

0.0

1.0

—

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

0.00

-0.00

0.0

1.0

—

(3026470) Cobalt [Mass/volume] in Blood

0.00

-0.00

0.0

1.7

—

1.01

—

(3029075) Extractable nuclear Ab panel - Serum

0.00

-0.00

0.0

1.1

—

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

0.00

-0.00

0.0

1.3

—

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

0.00

-0.00

0.0

1.0

—

1937.40

—

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

0.00

-0.00

0.0

1.3

—

128.67

—

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

0.00

-0.00

0.0

1.2

—

78.56

—

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

0.00

-0.00

0.0

1.0

—

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

0.00

-0.00

0.0

1.6

—

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

0.00

-0.00

0.0

1.2

—

35.27

—

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

0.00

-0.00

0.0

4.1

—

4.68

—

(3006653) Thiamine [Moles/volume] in Blood

0.00

-0.00

0.0

1.2

—

121.11

—

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

0.00

-0.00

0.0

2.0

—

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

0.00

-0.00

0.0

1.0

—

(3033099) Centromere Ab [Titer] in Serum

0.00

-0.00

0.0

1.4

—

(40761536) Microorganisms panel - Urine sediment

0.94

-0.00

11.1

3.4

—

(4198724) Urine methamphetamine measurement

0.00

-0.00

0.0

1.2

—

(3019497) Choriogonadotropin.beta subunit free [Moles/volume] in Serum or Plasma

0.00

-0.00

0.0

1.4

—

(3039429) Cortisol [Moles/volume] in Saliva (oral fluid)

0.00

-0.00

0.0

1.6

—

32.60

—

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

0.00

-0.00

0.0

1.0

—

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

0.00

-0.00

0.0

2.0

—

41.94

—

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

0.00

-0.00

0.0

1.6

—

(3002619) Bacteria identified in Specimen by Culture

0.00

-0.00

0.0

1.1

—

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

Matched cohort

LabWAS

Mortality – FinRegistry

Association

Females

Males

Mortality risk

Relationships between endpoints