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	519972
1. Apply sex-specific rule None	519972
2. Check conditions None	519972
3. Check pre-conditions, main-only, mode, registry filters Registry filters: Hospital discharge: ICD-10 — D81.4 Cause of death: ICD-10 — D81.4 2 out of 7 registries used, show all original rules.	152
4. Check minimum number of events None	152
5. Include endpoints None	152
6. Filter based on genotype QC (FinnGen only)	150

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	150	87	63
Unadjusted period prevalence (%)	0.03	0.03	0.03
Median age at first event (years)	55.28	51.55	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

↥

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

26.9

99.1

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

8.3

19.9

WX408

NOMESCO Finland

General anesthesy, balanced

4.4

18.0

241

ZXE20

NOMESCO Finland

More than three and less than five hours

5.0

16.8

118

GD1UA

NOMESCO Finland

Thorax X-ray examination outside radiological department

4.6

15.9

143

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

14.2

375

GD1QA

NOMESCO Finland

Supine thorax X-ray examination

4.1

13.3

150

QDB10

NOMESCO Finland

Major dressing of wound of skin of lower limb

9.7

11.0

JN3AE

NOMESCO Finland

Abdominal ultrasound examination

4.4

11.0

J01FF01

ATC

clindamycin; systemic

3.1

10.1

284

J01MA12

ATC

levofloxacin; systemic

3.4

10.0

179

WX404

NOMESCO Finland

Intravenous generell anesthesy

3.2

9.4

198

I70.2

ICD-10 Finland

Atherosclerosis of arteries of extremities

4.2

9.0

GD1PA

NOMESCO Finland

X-ray examination of the lungs in one projection

4.1

9.0

NA3AA

NOMESCO Finland

Lumbar spine X-ray examination without contrast

4.3

8.9

M01AH01

ATC

celecoxib; oral

3.2

8.6

156

JN3BD

NOMESCO Finland

Extensive abdominal CT

3.9

8.6

X59

ICD-10 Finland

Exposure to unspecified factor

3.1

8.6

175

ZXA00

NOMESCO Finland

Right side

2.8

8.6

291

Z3226

NOMESCO Finland

Physiotherapist

3.1

8.3

178

WX002

NOMESCO Finland

Sedation and analgesia

3.0

8.0

181

T81.3

ICD-10 Finland

Disruption of operation wound, not elsewhere classified

11.7

8.0

TPH04

NOMESCO Finland

Cathetrisation of vein

2.9

8.0

215

ZXD10

NOMESCO Finland

Scheduled procedure

2.6

7.6

408

JN1AE

NOMESCO Finland

Ultrasound examination of upper part of abdomen

3.8

7.5

A10AE04

ATC

insulin glargine; parenteral

3.9

7.3

N02AX02

ATC

tramadol; systemic, rectal

2.5

7.3

491

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

ZZA00

NOMESCO Finland

Split skin graft

8.9

7.0

R10.4

ICD-10 Finland

Other and unspecified abdominal pain

2.5

6.9

358

QDG20

NOMESCO Finland

Operation for chronic ulcer or fistula of skin of lower limb

42.0

6.8

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

8.4

6.8

ZXE30

NOMESCO Finland

More than five and less than seven hours

6.2

6.7

J01DA01

ATC

[U] cefalexin

2.7

6.7

112

780

Z3231

NOMESCO Finland

Registered nurse

2.5

6.5

303

R50.9

ICD-10 Finland

Fever, unspecified

2.9

6.4

142

N03AX16

ATC

[U] pregabalin

2.6

6.4

223

ZXA05

NOMESCO Finland

Left side

2.5

6.4

267

GD1AA

NOMESCO Finland

Thorax X-ray examination

2.4

6.4

494

UJF32

NOMESCO Finland

Coloscopy

2.5

6.3

253

103

Kela drug reimbursment

Diabetes, insulin-treated

2.5

6.1

249

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

133

3.12

7.27

2.8

1.5

—

(3023368) Bacteria identified in Blood by Culture

324

2.41

6.18

5.3

4.2

—

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

287

2.17

4.55

3.6

2.0

3.12

3.33

mg/l

0.26

255

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

660

2.00

4.12

8.5

5.8

10.70

11.39

umol/l

0.25

627

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

123

2.45

3.89

2.4

1.7

—

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

232

2.12

3.86

4.9

3.3

415.00

222.30

ng/l

0.26

171

(3009508) Creatinine [Moles/volume] in Urine

339

1.98

3.74

3.3

2.7

7.32

7.77

mmol/l

0.27

284

(3042936) Bacteria identified in Isolate by Culture

183

2.19

3.68

2.6

2.0

—

(3012516) Albumin [Mass/volume] in Urine

316

1.98

3.68

3.3

2.8

1242.50

48.57

mg/l

0.51

208

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

169

2.22

3.65

2.1

2.2

17.31

22.51

1.28

146

(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

3.56

2.4

1.7

—

(40758558) Short blood count panel - Blood

313

1.95

3.48

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

—

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

486

1.82

3.21

2.3

2.0

93.17

94.59

pmol/l

0.07

256

(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

2.05

3.12

5.0

3.2

0.81

0.83

mmol/l

0.40

175

(3020682) Albumin/Creatinine [Ratio] in Urine

338

1.82

2.90

3.9

3.4

13.28

7.26

mg/mmol

0.44

215

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

133

2.15

2.87

3.1

5.7

0.93

1.04

mmol/l

1.78

119

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

186

1.99

2.82

3.3

2.6

0.86

1.12

e6/l

0.28

105

(3003396) Base excess in Arterial blood by calculation

134

2.13

2.81

13.6

10.9

1.40

1.58

mmol/l

0.11

103

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

2.66

2.80

18.2

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

—

(1761868) Lipid panel - Serum or Plasma

457

0.50

2.71

3.2

2.7

—

(36304419) Bacteria [Presence] in Urine

322

1.77

2.60

4.3

2.7

—

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

140

2.03

2.51

24.9

6.4

105.12

104.02

mmol/l

0.40

140

(3013139) Helicobacter pylori Ag [Presence] in Stool

2.44

2.51

1.2

1.3

—

(3019060) Gas panel - Arterial blood

2.27

2.40

5.9

10.1

—

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

545

1.65

2.39

14.9

6.2

1.21

mmol/l

0.13

495

(3000991) Gas panel - Venous blood

2.21

2.28

34.4

8.0

—

(3025941) Bacteria identified in Stool by Culture

2.30

2.24

1.0

1.2

—

(3042631) Mycobacterium sp identified in Specimen

5.70

2.23

1.2

4.2

—

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

2.74

2.19

2.7

2.1

0.38

7.54

ug/l

0.55

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

111

2.03

2.13

3.6

2.5

2.78

6.33

ug/l

2.41

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

332

1.65

2.07

4.6

2.8

0.29

0.34

e6/l

0.19

253

(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

106

1201

0.61

1.95

4.7

4.4

1.34

1.48

mmol/l

2.81

1110

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

177

1.79

1.94

3.5

2.8

3.47

2.47

e6/l

0.28

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

113

971

1.64

1.89

13.4

7.2

79.15

76.53

u/l

0.33

106

900

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

597

1.55

1.89

14.7

7.0

1.21

mmol/l

0.25

512

(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

24.35

23.72

mmol/l

—

(3018418) pH of Serum or Plasma

378

1.57

1.80

5.5

3.7

7.40

—

(3022217) INR in Platelet poor plasma by Coagulation assay

583

1.52

1.78

26.0

13.2

1.27

inr

0.00

157

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

730

1.53

1.77

14.9

9.9

5.12

4.09

e9/l

2.71

638

(3052851) Hemolysis interference index of Serum or Plasma

2.59

1.77

5.1

3.7

—

(3034770) Mitochondria Ab [Titer] in Serum

3.01

1.74

2.0

1.2

—

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

111

1236

0.62

1.73

5.3

4.9

2.56

2.76

mmol/l

1.46

1143

(3002032) Base excess in Venous blood by calculation

105

1.93

1.72

21.6

3.3

0.53

2.46

mmol/l

1.85

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

713

1.51

1.72

12.5

5.1

7.26

6.55

mmol/l

1.97

665

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

3.65

1.63

1.4

1.2

—

(1616796) Gas panel - Central venous blood

3.08

1.59

2.5

2.6

—

(3002256) Pathology report gross observation

148

1.74

1.56

1.4

1.2

—

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

109

1211

0.65

1.55

4.6

4.5

4.46

4.67

mmol/l

1.24

100

1126

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

105

1175

0.66

1.54

4.0

1.67

1.28

mmol/l

4.18

1078

(3019230) Fractional oxyhemoglobin in Venous blood

3.41

1.53

75.4

2.2

67.20

64.97

—

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

3.41

1.53

3.8

1.5

3.34

7.81

u/ml

—

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

2.57

1.47

1.4

1.6

—

(3042194) Human metapneumovirus RNA [Presence] 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

2.9

—

(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

374

1.46

1.31

4.4

3.0

19.31

230.87

e6/l

0.68

294

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

2.84

1.29

1.4

1.7

—

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

133

1.67

1.25

1.6

—

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

269

1.50

1.25

1.4

1.2

0.51

1.47

u/ml

1.41

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

196

0.53

1.23

1.5

1.4

—

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

2.68

1.22

1.0

1.5

—

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

2.68

1.22

1.0

1.5

—

(3021901) Oxygen saturation in Capillary blood

2.68

1.22

3.8

2.1

—

(3014007) Fractional oxyhemoglobin in Arterial blood

1.95

1.22

18.9

10.4

94.78

93.35

0.54

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

271

1.48

1.21

3.0

2.1

—

(3045414) Leukocytes [Presence] in Urine

2.17

1.20

2.5

1.6

—

(40768797) Stomach Pathology biopsy report

169

1.57

1.17

1.4

1.2

—

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

121

1.65

1.12

1.7

1.5

—

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

434

1.38

1.06

4.8

2.9

—

(3022313) Gas panel - Capillary blood

2.02

1.06

3.8

2.5

—

(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

—

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

2.31

1.04

1.4

1.6

—

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

2.31

1.04

1.0

1.3

—

(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

—

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

311

0.66

1.01

1.4

—

(40768804) Tissue Pathology biopsy report

485

1.35

1.00

2.3

2.2

—

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

2.21

0.99

2.4

1.7

—

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

109

1.63

0.98

3.9

3.5

—

(3013115) Eosinophils [#/volume] in Blood

634

1.33

0.94

12.1

6.3

0.20

0.18

e9/l

0.70

566

(3044640) Blood type and Crossmatch panel - Blood

377

1.36

0.92

3.5

2.1

—

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

2.11

0.90

1.3

3.9

12.50

42.29

u/ml

—

(3006315) Basophils [#/volume] in Blood

617

1.32

0.90

12.0

5.6

0.04

e9/l

0.35

545

(3018095) Leukocytes [#/volume] in Urine

436

1.33

0.88

5.2

3.5

32.48

76.32

e6/l

0.74

316

(3019198) Lymphocytes [#/volume] in Blood

629

1.31

0.87

12.0

5.6

2.33

1.91

e9/l

0.49

566

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

113

0.51

0.87

1.8

1.6

—

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

1.78

0.84

2.5

1.8

—

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

813

1.30

0.81

6.2

4.3

—

3504.50

—

(3020891) Body temperature

1.70

0.80

3.4

4.4

—

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

274

1.36

0.80

4.6

3.9

—

(40768800) Prostate Pathology biopsy report

0.00

0.80

0.0

1.2

—

(3001604) Monocytes [#/volume] in Blood

616

1.29

0.78

12.2

5.5

0.67

0.58

e9/l

1.85

545

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

275

1.35

0.78

3.3

1.8

1.31

1.26

mg/l

0.04

221

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

1.80

0.77

4.0

2.8

—

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

1.95

0.71

1.0

—

(3028626) Oxygen [Partial pressure] in Capillary blood

1.95

0.71

4.0

1.8

7.56

8.17

kpa

—

(21494755) Public health laboratory ask at order entry panel

116

0.58

0.71

1.0

1.4

—

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

1.70

0.69

1.1

1.2

—

(3006418) Campylobacter sp identified in Tissue by Organism specific 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

—

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

1.66

0.68

1.9

—

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

1.66

0.68

1.1

—

14.90

—

(3021589) Normoblasts [#/volume] in Blood

539

1.25

0.65

15.3

9.5

0.00

e9/l

0.51

441

(3004588) Protein electrophoresis panel - Serum or Plasma

1.54

0.62

1.2

2.6

—

(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

—

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

111

1177

0.79

0.59

5.2

4.5

6.28

5.90

mmol/l

1.76

100

1094

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

243

1.29

0.55

1.8

1.3

2.38

2.53

g/l

0.17

145

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

291

1.26

0.53

1.9

1.5

17.17

22.53

nmol/l

1.92

249

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

620

1.21

0.51

4.6

3.8

0.00

estimate

-0.00

108

(3049717) Cytology report of Urine Cyto stain

1.55

0.49

1.9

2.8

—

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

111

1.39

0.49

1.4

1.6

—

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

306

0.78

0.49

3.6

4.6

16.17

19.91

—

155

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

230

1.27

0.47

2.1

1.7

1566.28

1197.53

nmol/l

0.61

180

(40768443) Skin Pathology biopsy report

1.42

0.45

1.4

1.2

—

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

126

1307

0.79

0.44

18.2

10.1

29.02

25.49

u/l

1.60

121

1269

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

227

0.77

0.44

2.2

3.0

0.57

0.72

ug/l

0.78

154

(3044889) 12 lead EKG panel

887

1.19

0.44

4.6

3.6

—

(3037522) Nuclear Ab [Titer] in Serum

159

1.30

0.43

1.8

1.4

173.33

560.93

titre

—

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

1.46

0.43

1.9

1.2

501.46

128.57

u/ml

—

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

1.53

0.41

1.4

1.3

—

(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

1.4

—

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

1.49

0.40

1.0

1.1

—

(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

—

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

496

0.84

0.39

5.5

3.8

—

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

1.39

0.39

1.1

1.3

—

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

218

1.23

0.37

1.3

28.23

38.23

iu/ml

0.38

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

378

0.84

0.35

5.2

5.0

4.92

2.96

ug/l

0.27

343

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

557

1.16

0.35

3.5

2.6

—

(3041096) Erythrocytes [Presence] in Urine by Automated

356

0.84

0.34

4.6

3.3

—

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

109

1137

0.85

0.34

22.0

13.1

82.06

80.36

ml/min/173m2

0.40

929

(4035726) Immunohistochemistry procedure

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

3.19

58.79

ug/l

0.58

114

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

921

1.15

0.31

4.7

3.9

15.02

14.77

pmol/l

0.44

844

(3009542) Hematocrit [Volume Fraction] of Blood

132

1352

0.82

0.29

41.3

21.0

39.00

39.96

1.11

122

1268

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

340

0.85

0.28

7.3

3.9

0.00

estimate

-0.00

108

(3000492) Spirometry study

119

0.74

0.28

1.9

1.4

—

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

614

1.13

0.28

4.8

3.8

0.00

estimate

-0.00

116

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

236

1.18

0.26

4.1

3.0

2.50

2.46

mmol/l

0.59

207

(36660697) Celiac disease serology panel - Serum

1.27

0.25

1.2

1.1

—

(3037467) Urinalysis macro (dipstick) panel - Urine

849

1.12

0.24

7.6

4.1

—

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

611

1.11

0.22

6.1

5.1

0.00

estimate

-0.00

108

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

1.20

0.21

1.6

1.5

—

(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

—

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

0.00

0.21

0.0

1.3

—

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

0.00

0.21

0.0

1.5

—

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

0.00

0.21

0.0

1.9

—

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

0.00

0.21

0.0

1.9

—

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

0.00

0.21

0.0

1.9

—

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

0.00

0.21

0.0

2.8

—

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

0.00

0.21

0.0

1.1

—

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

0.00

0.21

0.0

6.3

—

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

0.00

0.21

0.0

1.2

—

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

0.00

0.21

0.0

1.0

—

532.43

—

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

0.00

0.21

0.0

1.0

—

245.29

—

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

0.00

0.21

0.0

1.0

—

29.19

—

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

0.00

0.21

0.0

1.8

—

4.00

—

(3023410) Appearance of Cerebral spinal fluid

0.00

0.21

0.0

1.2

—

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

0.00

0.20

0.0

3.2

—

(3008898) HLA-B27 [Presence]

1.23

0.20

1.0

—

(4200892) Spirometry reversibility

1.24

0.20

1.8

1.3

—

(3019832) Treponema pallidum Ab [Presence] in Serum

0.75

0.17

1.0

1.7

—

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

0.73

0.17

2.4

1.5

—

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

206

1.14

0.17

1.2

1.3

7.90

10.54

u/ml

—

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

424

1.09

0.14

3.9

3.3

2.39

2.35

mmol/l

1.04

374

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

755

1.07

0.12

3.5

3.0

—

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

507

1.07

0.11

3.3

2.3

80.27

75.37

nmol/l

0.52

454

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

124

1220

1.09

0.11

30.0

14.4

30.86

23.13

mg/l

1.55

110

982

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

1.17

0.10

1.6

—

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

1.14

0.10

4.6

1.3

40.40

36.99

u/l

—

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

1.11

0.10

1.2

1.0

—

(40760892) CBC W Ordered Manual Differential panel - Blood

579

1.06

0.09

13.0

6.0

—

(3019225) pH of Specimen

107

1.13

0.09

2.9

3.3

—

(1002224) Polysomnography panel

1.07

0.09

1.2

1.1

—

(3000330) Specific gravity of Urine by Test strip

1.04

0.08

2.0

4.2

—

(3016251) Hemoglobin.gastrointestinal [Presence] in Stool

1.08

0.08

1.9

2.3

—

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

482

1.06

0.08

5.9

4.0

21.83

34.60

ng/l

0.75

323

(3022621) pH of Urine by Test strip

1.10

0.07

1.9

2.6

—

(3022145) Colonoscopy Study observation

147

1.10

0.07

1.3

—

(3033319) Streptococcus pyogenes Ag [Presence] in Throat

0.86

0.07

1.0

1.3

—

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

113

1117

1.05

0.05

5.9

4.7

1.95

1.93

mu/l

0.05

102

1031

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

322

0.95

0.04

1.8

1.7

1.47

1.30

mmol/l

0.83

276

(40761511) CBC panel - Blood by Automated count

127

1281

0.95

0.04

22.2

13.1

—

(3017181) Myelocytes/100 leukocytes in Blood

1.01

0.00

4.6

4.2

0.20

1.12

—

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

186

1.02

0.00

1.4

—

(3013512) EKG study

354

0.99

0.00

4.5

4.0

—

(3026008) Bacteria identified in Urine by Culture

393

0.99

0.00

4.9

2.9

—

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

175

0.97

0.00

1.4

1.8

—

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

145

1.04

0.00

13.7

7.7

—

(40761535) Cells panel - Urine sediment

102

0.98

0.00

5.5

3.5

—

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

824

0.99

0.00

4.8

2.8

62.15

45.46

u/l

1.33

774

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

0.00

0.0

1.0

—

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

0.00

0.0

1.3

—

(3015183) Erythrocyte sedimentation rate

0.00

0.0

1.2

—

(3002619) Bacteria identified in Specimen by Culture

0.00

0.0

1.0

—

(4034850) Laboratory test

1.02

0.00

8.4

14.2

—

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

0.00

0.0

1.0

—

(3045716) Anion gap in Serum or Plasma

0.00

0.0

3.5

—

9.50

—

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

0.00

0.0

1.0

—

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

0.00

0.0

1.0

—

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

0.00

0.0

1.2

—

29.50

—

(3013727) Leukocytes other/100 leukocytes in Blood

0.00

0.0

6.3

—

44.50

—

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

0.00

0.0

1.8

—

(3047189) Immunofixation for 24 hour Urine

0.00

0.0

1.8

—

(3025634) Parainfluenza virus 1 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

—

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

0.00

0.0

2.0

—

(3017569) Oxygen content in Arterial blood

0.00

-0.00

0.0

2.4

—

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

0.00

-0.00

0.0

1.6

—

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

0.00

-0.00

0.0

2.0

—

(3007798) IgG/Albumin [Mass Ratio] in Cerebral spinal fluid

0.00

-0.00

0.0

1.3

—

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

0.00

-0.00

0.0

2.2

—

14562.20

—

(3035933) Granulocytes/100 leukocytes in Blood

0.00

-0.00

0.0

1.0

—

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

0.00

-0.00

0.0

1.3

—

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

0.00

-0.00

0.0

1.9

—

41.94

—

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

0.00

-0.00

0.0

1.0

—

(3036180) Methadone [Presence] in Urine

0.00

-0.00

0.0

1.2

—

(3035880) pH of Pleural fluid

0.00

-0.00

0.0

1.1

—

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

0.00

-0.00

0.0

3.4

—

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

0.00

-0.00

0.0

8.2

—

248.40

—

(3006653) Thiamine [Moles/volume] in Blood

0.00

-0.00

0.0

1.3

—

115.43

—

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

0.00

-0.00

0.0

1.0

—

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

0.00

-0.00

0.0

1.0

—

(3051593) INR in Capillary blood by Coagulation assay

0.00

-0.00

0.0

10.1

—

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

0.00

-0.00

0.0

1.0

—

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

0.00

-0.00

0.0

2.0

—

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

0.00

-0.00

0.0

2.0

—

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

0.00

-0.00

0.0

1.2

—

(3029075) Extractable nuclear Ab panel - Serum

0.00

-0.00

0.0

1.0

—

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

0.00

-0.00

0.0

1.5

—

1.61

—

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

0.00

-0.00

0.0

1.0

—

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

0.00

-0.00

0.0

1.2

—

(3026470) Cobalt [Mass/volume] in Blood

0.00

-0.00

0.0

1.6

—

0.99

—

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

0.00

-0.00

0.0

1.2

—

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

0.00

-0.00

0.0

1.2

—

78.56

—

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

0.00

-0.00

0.0

1.3

—

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

0.00

-0.00

0.0

1.0

—

210.86

—

(3016018) Differential panel - Cerebral spinal fluid

0.00

-0.00

0.0

1.1

—

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

0.00

-0.00

0.0

1.4

—

1.02

—

(44813793) Dust mix specific IgE antibody measurement

0.00

-0.00

0.0

1.0

—

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

0.00

-0.00

0.0

1.0

—

(40761536) Microorganisms panel - Urine sediment

0.98

-0.00

10.9

3.4

—

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

0.00

-0.00

0.0

3.4

—

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

0.00

-0.00

0.0

1.6

—

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

0.00

-0.00

0.0

1.3

—

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

0.00

-0.00

0.0

1.4

—

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

0.00

-0.00

0.0

1.6

—

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

0.00

-0.00

0.0

1.3

—

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

0.00

-0.00

0.0

1.3

—

128.68

—

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

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Index endpoint: D3_NEFELOF – Nezelof syndrome

GWS hits: -

Endpoint

Case Overlap

Survival Analysis

Genetic Correlations

Genetic Signals

N (Jaccard index)

HR [CI]

rg [CI]

Hits

Coloc Hits

FinRegistry

FinnGen

FinRegistry

FinnGen

Loading data

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