Severe combined immunodeficiency [SCID] with reticular dysgenesis

D3_SCIDA

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 — D81.0 Cause of death: ICD-10 — D81.0 2 out of 7 registries used, show all original rules.	114
4. Check minimum number of events None	114
5. Include endpoints None	114
6. Filter based on genotype QC (FinnGen only)	103

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: Deficientia immunalis mixta gravis cum dysgenesia reticulari

NAME	D3_SCIDA
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	D810
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	D810
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 Severe combined immunodeficiency [SCID] with reticular dysgenesis 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	872	485	380
Only index persons	752	436	316
Unadjusted period prevalence (%)
Whole population	0.01	0.01	0.01
Only index persons	0.01	0.02	0.01
Median age at first event (years)
Whole population	54.06	50.10	58.88
Only index persons	51.47	48.96	54.94

-FinnGen-

Key figures

	All	Female	Male
Number of individuals	103	59	44
Unadjusted period prevalence (%)	0.02	0.02	0.02
Median age at first event (years)	51.92	44.93	61.31

-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
109: Matched controls
1090

Code

Vocabulary

Description

Odds Ratio

-log₁₀(p)

N matched cases

N matched controls

D81.0

ICD-10 Finland

Severe combined immunodeficiency [SCID] with reticular dysgenesis

+∞

157.2

109

T81.0

ICD-10 Finland

Haemorrhage and haematoma complicating a procedure, not elsewhere classified

16.0

39.1

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

7.4

16.9

ZXD05

NOMESCO Finland

Urgent procedure

3.9

11.2

219

D80.1

ICD-10 Finland

Nonfamilial hypogammaglobulinaemia

+∞

10.6

M05BA04

ATC

alendronic acid; oral

6.2

10.6

UJD10

NOMESCO Finland

Esophagoscopy, gastroscopy and duodenoscopy

3.4

9.0

216

A49.9

ICD-10 Finland

Bacterial infection, unspecified

4.6

8.8

120

Kela drug reimbursment

Hypogammaglobulinaemia

+∞

8.4

T81.4

ICD-10 Finland

Infection following a procedure, not elsewhere classified

4.2

8.3

C03CA01

ATC

furosemide; systemic

3.1

7.5

222

D80.9

ICD-10 Finland

Immunodeficiency with predominantly antibody defects, unspecified

+∞

7.4

TPH15

NOMESCO Finland

Insertion of central venous catheter through external or internal jugular vein

7.3

EB1HA

NOMESCO Finland

Panorama tomography of teeth and jaws or similar X-ray examination

2.9

7.1

297

LWE00

NOMESCO Finland

Reoperation for deep haemorrhage in gynaecological surgery

74.0

6.5

Y83.9

ICD-10 Finland

Surgical procedure, unspecified as the cause of abnormal reaction of the patient, or of later complication, without mention of misadventure at the time of the procedure

10.2

6.5

ZXE10

NOMESCO Finland

More than one and less than three hours

2.8

6.4

268

J01MA02

ATC

ciprofloxacin; systemic

2.8

6.4

284

A46

ICD-10 Finland

Erysipelas

3.5

6.3

J01FF01

ATC

clindamycin; systemic

2.8

6.2

197

A09

ICD-10 Finland

Other gastroenteritis and colitis of infectious and unspecified origin

3.1

6.0

118

PH2AE

NOMESCO Finland

Ultrasound examination of lower leg veins

3.6

6.0

LabWAS

↥

N Cases

N Controls

-log₁₀(p)

cases

controls

cases

controls

unit

-log₁₀(p)

N cases

N controls

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

242

2.86

6.62

3.6

2.1

3.30

2.93

mg/l

0.50

219

(3007853) Bacteria identified in Skin by Aerobe culture

107

3.33

6.50

3.3

1.7

—

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

4.08

5.13

1.5

1.3

—

(3022948) Iron [Moles/volume] in Serum or Plasma

165

2.65

4.96

4.7

2.8

12.12

14.06

umol/l

0.65

152

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

456

2.22

3.91

4.6

3.0

193.64

110.05

ug/l

1.15

423

(3032080) INR in Blood by Coagulation assay

447

2.21

3.89

28.2

12.5

1.35

1.21

inr

1.01

364

(3042936) Bacteria identified in Isolate by Culture

141

2.44

3.76

3.5

1.9

—

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

461

2.18

3.74

16.4

8.2

1.19

1.21

mmol/l

1.22

400

(3004789) Transferrin [Mass/volume] in Serum or Plasma

156

2.38

3.73

4.9

2.8

2.23

2.29

g/l

0.20

141

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

4.36

3.73

3.3

3.2

—

(3001604) Monocytes [#/volume] in Blood

476

2.14

3.57

14.2

6.8

0.63

0.57

e9/l

1.06

410

(3006315) Basophils [#/volume] in Blood

479

2.12

3.47

14.3

6.8

0.04

e9/l

0.11

410

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

2.56

3.41

4.1

3.1

—

(3035715) Granulocytes [#/volume] in Blood

6.07

3.41

5.5

2.4

3.97

4.33

e9/l

—

(46236952) Glomerular filtration rate [Volume Rate/Area] in Serum, Plasma or Blood by Creatinine-based formula (MDRD)/1.73 sq M

2.82

3.31

2.4

2.8

58.83

64.59

ml/min/173m2

—

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

8.98

3.30

3.0

1.7

—

(3019198) Lymphocytes [#/volume] in Blood

485

2.07

3.29

14.3

6.8

1.79

1.80

e9/l

0.03

431

(3044640) Blood type and Crossmatch panel - Blood

302

2.05

3.28

4.2

2.4

—

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

420

2.03

3.23

15.5

7.1

1.20

1.21

mmol/l

0.89

388

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

153

2.22

3.09

1.8

1263.52

1280.79

nmol/l

0.03

120

(3021440) Promyelocytes/Leukocytes in Blood

2.64

3.09

5.9

5.6

0.29

0.13

—

(3013115) Eosinophils [#/volume] in Blood

494

2.00

3.02

14.7

7.1

0.20

0.19

e9/l

0.24

433

(3026250) Tacrolimus [Mass/volume] in Blood

10.39

3.01

44.4

20.2

6.62

7.40

ug/l

—

(4062490) Immunoglobulin typing, IgG

10.39

3.01

2.0

1.2

—

(3023368) Bacteria identified in Blood by Culture

250

2.03

3.00

5.8

4.2

—

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

2.65

2.98

2.4

1.5

—

(3018418) pH of Serum or Plasma

296

1.96

2.87

9.7

4.6

7.39

0.24

214

(3052649) Adenosine deaminase [Enzymatic activity/volume] in Serum or Plasma

8.65

2.77

2.4

1.5

16.60

14.83

u/l

—

(3007847) Interleukin 2 Receptor Soluble [Units/volume] in Serum or Plasma

8.65

2.77

7.2

1.3

749.00

929.33

u/ml

—

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

3.38

2.73

2.6

1.3

—

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

124

2.20

2.67

19.4

7.7

1.11

1.06

mmol/l

0.36

116

(3017181) Myelocytes/Leukocytes in Blood

2.43

2.65

6.1

5.4

1.86

0.69

—

(3000494) Fungus identified in Specimen by Culture

111

2.23

2.58

1.9

1.5

—

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

3.33

2.51

1.8

2.5

86.70

94.09

—

(1616796) Gas panel - Central venous blood

5.22

2.43

2.8

3.3

—

(3035933) Granulocytes/Leukocytes in Blood

3.84

2.41

5.6

2.8

57.00

58.95

—

(3025941) Bacteria identified in Stool by Culture

2.75

2.36

1.5

1.2

—

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

154

2.00

2.32

2.4

1.7

—

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

541

1.82

2.30

14.7

11.2

4.54

4.07

e9/l

0.71

475

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

139

2.04

2.30

11.6

7.9

102.88

104.01

mmol/l

0.44

139

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

389

1.77

2.23

2.5

2.2

98.50

96.14

pmol/l

0.14

195

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

281

1.80

2.22

3.8

3.2

0.71

0.41

e6/l

0.23

201

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

4.47

2.18

1.2

—

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

402

1.74

2.13

3.9

2.7

78.91

76.74

nmol/l

0.22

357

(3037522) Nuclear Ab [Titer] in Serum

143

1.97

2.12

1.8

1.4

350.00

547.69

titre

—

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

216

1.83

2.11

5.6

2.5

—

(3000991) Gas panel - Venous blood

2.21

2.09

16.4

11.6

—

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

161

1.90

2.03

2.5

1.8

—

(3019977) pH of Arterial blood

115

2.02

2.00

9.7

9.2

7.44

7.42

—

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

2.72

2.00

1.0

1.3

36.49

33.42

u/l

—

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

3.49

2.00

1.4

1.3

—

(40768804) Tissue Pathology biopsy report

370

1.71

2.00

3.0

2.0

—

(3014111) Lactate [Moles/volume] in Serum or Plasma

2.20

1.97

10.9

10.2

1.20

1.28

mmol/l

0.17

(3002179) Metamyelocytes/Leukocytes in Blood

2.20

1.97

6.8

5.1

0.60

0.41

—

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

3.90

1.96

1.0

—

(4195642) Thrombophilia screening test

4.71

1.96

1.2

1.4

—

(42870588) Differential panel, method unspecified - Blood

317

1.71

1.95

14.4

6.0

—

(3025159) Blasts/Leukocytes in Blood

2.17

1.91

6.6

6.0

0.00

—

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

3.33

1.91

2.1

1.5

—

(3034770) Mitochondria Ab [Titer] in Serum

3.00

1.90

1.1

1.2

—

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

4.31

1.84

2.0

1.8

—

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

4.31

1.84

2.0

1.8

—

(40761535) Cells panel - Urine sediment

2.21

1.79

6.4

4.1

—

(3022313) Gas panel - Capillary blood

2.63

1.78

16.3

3.9

—

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

3.04

1.75

1.0

1.7

—

(3026389) Candida sp identified in Specimen by Organism specific culture

3.98

1.73

1.0

1.2

—

(3023419) Bacteria identified in Sputum by Culture

3.98

1.73

3.0

1.5

—

(3013290) Carbon dioxide [Partial pressure] in Blood

3.98

1.73

2.6

2.5

5.42

4.92

kpa

—

(3027315) Oxygen [Partial pressure] in Blood

3.98

1.73

2.4

2.5

9.00

8.96

kpa

—

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

438

1.63

1.72

5.1

2.7

—

estimate

—

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

162

1.79

1.70

2.8

3.0

0.86

0.73

e6/l

0.13

(3002582) Erythrocytes [#/volume] in Urine

330

1.62

4.4

3.5

24.93

40.02

e6/l

0.46

250

(3021589) Normoblasts [#/volume] in Blood

425

1.59

18.5

12.1

0.00

e9/l

0.47

338

(3013327) Hepatitis A virus IgM Ab [Presence] in Serum

3.44

1.54

1.0

—

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

2.96

1.53

1.7

1.4

—

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

2.82

1.45

2.3

1.1

—

(40765161) Human bocavirus DNA [Presence] in Specimen by NAA with probe detection

3.22

1.45

2.6

1.6

—

(3023351) European house dust mite IgE Ab [Units/volume] in Serum

3.22

1.45

1.2

1.3

0.94

1.94

u/ml

—

(3009508) Creatinine [Moles/volume] in Urine

331

1.55

1.38

4.7

3.1

6.32

8.18

mmol/l

2.05

287

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

182

1.64

1.33

2.2

1.9

—

(40761536) Microorganisms panel - Urine sediment

1.97

1.30

3.8

3.5

—

(3010421) pH of Blood

2.86

1.30

3.8

3.3

7.41

—

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

150

1.68

1.28

3.3

3.1

3.80

2.70

e6/l

0.20

(3024928) Oxygen saturation in Venous blood

2.48

1.26

7.0

3.0

60.23

59.68

—

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

2.71

1.23

2.6

1.4

—

(3013707) Erythrocyte sedimentation rate [Velocity] in Red Blood Cells by Westergren method

707

1.57

1.22

8.7

4.5

17.53

12.10

mm/h

1.97

652

(40768443) Skin Pathology biopsy report

2.19

1.21

1.6

1.3

—

(3002256) Pathology report gross observation

120

1.71

1.18

1.7

1.2

—

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

205

1.56

1.17

2.3

1.8

1.65

1.03

mg/l

0.70

168

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

0.00

1.17

0.0

1.9

—

(3004588) Protein electrophoresis panel - Serum or Plasma

1.89

1.17

1.2

2.4

—

(3018095) Leukocytes [#/volume] in Urine

379

1.48

1.16

5.6

4.2

468.62

34.11

e6/l

0.54

260

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

918

0.63

1.13

6.3

6.0

2.45

2.71

mmol/l

1.94

849

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

123

1.66

1.09

1.8

1.7

—

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

2.09

1.08

1.1

1.5

—

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

2.20

1.07

2.4

1.5

—

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

2.33

1.04

1.4

2.2

—

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

211

1.51

1.03

3.2

1.5

2.23

2.84

g/l

0.66

128

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

377

1.43

1.02

5.9

4.0

36.19

32.45

ng/l

0.17

269

(3013139) Helicobacter pylori Ag [Presence] in Stool

1.91

1.01

1.0

1.2

—

(40768797) Stomach Pathology biopsy report

134

1.60

1.01

1.8

1.2

—

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

1.94

1.00

13.6

4.6

23.57

24.31

mmol/l

—

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

0.00

0.99

0.0

1.2

—

0.53

—

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

0.00

0.99

0.0

1.4

—

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

196

1.50

0.97

2.0

1.9

434.48

438.03

pmol/l

0.02

169

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

2.29

0.95

2.2

1.2

—

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

2.13

0.91

2.3

1.5

—

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

113

1.60

0.88

17.5

8.7

—

(3048689) Calprotectin [Mass/mass] in Stool

123

1.56

0.84

2.6

1.9

214.30

75.75

ug/g

0.56

103

(3005033) Fetal Nuchal fold Thickness US

0.00

0.80

0.0

1.5

—

1.23

—

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

0.00

0.80

0.0

1.3

—

20.52

—

(3047352) Trisomy 18 risk [Likelihood] in Fetus

0.00

0.80

0.0

1.5

—

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

0.00

0.80

0.0

1.6

—

0.97

—

(3043238) Trisomy 21 risk [Likelihood] in Fetus

0.00

0.80

0.0

1.6

—

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

0.00

0.80

0.0

1.6

—

0.95

—

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

0.00

0.80

0.0

1.6

—

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

0.00

0.80

0.0

1.6

—

1.09

—

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

0.00

0.79

0.0

1.7

—

52.24

—

(4034850) Laboratory test

0.00

0.79

0.0

17.0

—

(3008898) HLA-B27 [Presence]

1.81

0.77

1.3

1.1

—

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

196

1.43

0.77

3.5

3.3

60.23

325.59

ng/l

0.99

144

(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

1.69

0.76

2.2

1.7

—

(3019060) Gas panel - Arterial blood

1.73

0.75

5.5

4.7

—

(3037756) Immunofixation for Serum or Plasma

2.05

0.73

1.2

1.3

—

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

1.70

0.71

10.2

10.1

26.51

24.54

mmol/l

—

(3026008) Bacteria identified in Urine by Culture

292

1.35

0.70

3.3

3.0

—

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

1.89

0.69

1.4

1.3

—

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

1.89

0.69

2.8

1.4

—

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

121

1.48

0.67

2.7

1.6

—

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

1.82

0.67

2.2

1.6

—

(3015736) pH of Urine

438

1.31

0.66

4.8

3.7

6.32

6.29

0.09

243

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

1.54

0.64

1.8

1.9

—

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

1.68

0.64

1.4

1.5

7.51

24.64

iu/l

—

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

1.70

0.62

2.8

1.9

—

(3012516) Albumin [Mass/volume] in Urine

318

1.30

0.59

5.0

3.2

106.36

73.58

mg/l

0.24

214

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

902

0.74

0.58

5.6

5.2

1.45

1.50

mmol/l

0.42

831

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

544

1.28

0.57

5.0

4.1

0.00

14.63

estimate

0.50

111

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

587

1.27

0.53

2.9

3.1

—

(3020682) Albumin/Creatinine [Ratio] in Urine

323

1.27

0.52

5.9

3.7

31.04

11.56

mg/mmol

0.56

202

(3004410) Hemoglobin A1c/Hemoglobin.total in Blood

861

0.77

0.51

7.7

6.5

40.57

39.49

mmol/mol

0.38

804

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

550

1.25

0.50

5.0

4.1

0.00

0.03

estimate

0.50

104

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

903

0.77

0.43

5.7

5.3

4.32

4.65

mmol/l

2.16

837

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

1.59

0.43

1.2

1.3

—

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

1.54

0.42

2.6

1.2

—

(42868674) Cholesterol in HDL/Cholesterol.total [Molar ratio] in Serum or Plasma

106

1.37

0.41

4.9

5.1

36.00

31.87

—

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

883

0.79

0.41

6.3

5.1

6.01

5.92

mmol/l

0.25

815

(40766183) Gliadin peptide IgA Ab [Units/volume] in Serum by Immunoassay

0.00

0.41

0.0

1.4

—

4.00

—

(3004248) Sex hormone binding globulin [Moles/volume] in Serum or Plasma

1.49

0.41

2.8

1.9

52.00

38.74

nmol/l

—

(1761868) Lipid panel - Serum or Plasma

369

0.81

0.40

4.1

3.0

—

(3033319) Streptococcus pyogenes Ag [Presence] in Throat

1.39

0.40

1.7

1.4

—

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

0.00

0.39

0.0

3.6

—

52.74

—

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

540

1.20

0.38

5.0

4.0

0.00

estimate

-0.00

108

(40760892) CBC W Ordered Manual Differential panel - Blood

220

1.24

0.36

11.2

5.7

—

(21494755) Public health laboratory ask at order entry panel

0.68

0.34

1.2

1.4

—

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

726

1.21

0.34

5.8

4.4

14.60

14.90

pmol/l

0.42

667

(3045424) Erythrocytes [Presence] in Urine

1.35

0.34

4.2

2.6

—

0.00

estimate

—

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

120

1.29

0.32

2.1

1.8

—

(3010813) Leukocytes [#/volume] in Blood

988

0.76

0.31

49.8

24.4

7.15

6.58

e9/l

1.75

967

(3009542) Hematocrit [Volume Fraction] of Blood by calculation

988

0.76

0.31

51.4

25.0

39.14

40.21

1.24

979

(3024731) MCV [Entitic mean volume] in Red Blood Cells

988

0.76

0.31

49.4

24.3

90.92

91.29

0.31

979

(3000963) Hemoglobin [Mass/volume] in Blood

988

0.76

0.31

49.8

24.5

128.95

134.63

g/l

2.37

979

(3035941) MCH [Entitic mass]

988

0.76

0.31

49.4

24.3

29.97

30.36

1.29

979

(4035726) Immunohistochemistry procedure

1.33

0.31

1.4

1.3

—

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

112

1.29

0.30

4.1

2.7

5.14

8.18

umol/l

1.15

100

(4010399) Spirometry for bronchospasm with prolonged evaluation after bronchodilator

1.33

0.29

1.5

1.3

—

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

235

1.20

0.29

1.3

0.42

1.80

u/ml

—

(3019150) Specific gravity of Urine by Refractometry

236

1.19

0.28

5.1

4.4

1.02

kg/l

0.05

156

(3022145) Colonoscopy Study observation

114

1.26

0.26

1.1

1.4

—

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

296

1.16

0.25

5.7

4.2

0.00

0.02

estimate

0.50

(40761511) CBC panel - Blood by Automated count

946

0.82

0.23

31.0

13.5

—

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

1.33

0.23

1.0

1.2

—

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

1.23

0.22

1.6

2.3

—

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

0.00

0.21

0.0

1.2

—

(3008295) Osmolality of Serum or Plasma

0.00

0.21

0.0

1.2

—

269.20

—

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

0.00

0.21

0.0

1.2

—

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

0.00

0.21

0.0

1.1

—

(37020937) Giardia lamblia DNA [Presence] in Stool by NAA with probe detection

0.00

0.21

0.0

1.0

—

(36305771) Cryptosporidium sp DNA [Presence] in Stool by NAA with probe detection

0.00

0.21

0.0

1.0

—

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

0.00

0.21

0.0

1.3

—

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

408

1.13

0.21

4.8

3.9

0.00

0.06

estimate

0.78

(3016018) Differential panel - Cerebral spinal fluid

0.00

0.21

0.0

1.1

—

(3023410) Appearance of Cerebral spinal fluid

0.00

0.21

0.0

1.1

—

(40768795) Lymph node Pathology biopsy report

0.00

0.20

0.0

1.1

—

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

0.00

0.20

0.0

1.1

—

(3045716) Anion gap in Serum or Plasma by calculation

0.00

0.20

0.0

2.4

—

10.07

—

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

156

1.18

0.20

2.2

1.4

—

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

1.20

0.18

1.1

—

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

1.15

0.16

2.1

1.5

—

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

232

0.88

0.15

5.8

4.6

22.63

22.69

0.01

116

(3041096) Erythrocytes [Presence] in Urine by Automated

300

0.91

0.12

4.1

3.3

0.00

estimate

-0.00

(4024509) Urine culture

1.17

0.10

2.6

1.6

—

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

1.04

0.09

1.6

2.3

—

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

866

0.92

0.09

4.6

4.4

1.35

1.25

mmol/l

0.68

794

(3020564) Creatinine [Moles/volume] in Serum or Plasma

963

0.89

0.08

40.4

20.8

96.67

78.00

umol/l

1.24

952

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

906

1.10

0.08

35.9

16.1

22.00

22.76

mg/l

0.11

735

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

1.07

0.07

1.9

—

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

1.14

0.07

2.4

1.9

—

(3019832) Treponema pallidum Ab [Presence] in Serum

0.85

0.07

2.1

1.6

—

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

199

1.07

0.05

1.8

1.3

18.87

32.76

iu/ml

0.69

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

388

1.05

0.05

2.0

1.71

1.38

mmol/l

1.37

327

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

169

0.94

0.03

1.6

1.5

—

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

853

1.04

0.01

7.1

5.4

2.53

1.92

mu/l

0.46

781

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

178

1.01

0.00

1.9

1.3

1.20

7.98

u/ml

—

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

253

0.98

0.00

1.6

1.5

—

(40758558) Short blood count panel - Blood

296

1.02

0.00

12.6

6.9

—

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

0.00

-0.00

0.0

1.0

—

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

0.00

-0.00

0.0

1.4

—

(3000081) cloZAPine [Moles/volume] in Serum or Plasma

0.00

-0.00

0.0

14.8

—

1422.50

—

(3028433) Virus identified in Specimen by Culture

0.00

-0.00

0.0

1.8

—

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

0.00

-0.00

0.0

1.6

—

(42529598) SUMO-activating enzyme subunit 1 Ab [Presence] in Serum by Line blot

0.00

-0.00

0.0

1.0

—

(42528593) TIF1-gamma Ab [Presence] in Serum by Line blot

0.00

-0.00

0.0

1.0

—

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

0.00

-0.00

0.0

1.3

—

41.60

—

(40764127) Haemophilus influenzae DNA [Presence] in Specimen by NAA with probe detection

0.00

-0.00

0.0

1.2

—

(3016914) Bacteria identified in Cerebral spinal fluid by Culture

0.00

-0.00

0.0

1.3

—

(3049506) Microalbumin [Mass/time] in Urine collected for unspecified duration

0.00

-0.00

0.0

1.8

—

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

0.00

-0.00

0.0

1.0

—

244.89

—

(40764126) Parainfluenza virus RNA [Presence] in Specimen by NAA with probe detection

0.00

-0.00

0.0

1.3

—

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

0.00

-0.00

0.0

1.4

—

(42529582) MDA5 Ab [Presence] in Serum by Line blot

0.00

-0.00

0.0

1.0

—

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

0.00

-0.00

0.0

1.0

—

(1001509) Gas and Carbon monoxide and Electrolytes panel - Arterial blood

0.00

-0.00

0.0

1.7

—

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

0.00

-0.00

0.0

1.0

—

(3008832) Norclozapine [Moles/volume] in Serum or Plasma

0.00

-0.00

0.0

11.0

—

848.00

—

(3037534) Parathyrin related protein [Mass/volume] in Serum or Plasma

0.00

-0.00

0.0

1.5

—

61.25

—

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

0.00

-0.00

0.0

1.4

—

208.86

—

(21491868) Cryoglobulin [Mass/volume] in Serum

0.00

-0.00

0.0

1.0

—

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

0.00

-0.00

0.0

1.2

—

(3016244) Insulin [Units/volume] in Serum or Plasma

0.00

-0.00

0.0

3.6

—

10.66

—

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

0.00

-0.00

0.0

1.0

—

(3000492) Spirometry study

0.95

-0.00

3.8

1.3

—

(3018333) Ribosomal P Ab [Presence] in Serum

0.00

-0.00

0.0

1.4

—

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

0.00

-0.00

0.0

3.0

—

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

0.00

-0.00

0.0

3.0

—

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

0.00

-0.00

0.0

1.2

—

131.80

—

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

0.00

-0.00

0.0

1.3

—

(3020911) Cortisol [Moles/time] in 24 hour Urine

0.00

-0.00

0.0

1.6

—

57.00

—

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

0.00

-0.00

0.0

1.0

—

(3013637) Mi-2 Ab [Presence] in Serum

0.00

-0.00

0.0

1.0

—

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

0.00

-0.00

0.0

1.4

—

(3032699) Streptococcus pneumoniae DNA [Presence] in Specimen by NAA with probe detection

0.00

-0.00

0.0

1.4

—

(3037875) Bordetella parapertussis DNA [Presence] in Specimen by NAA with probe detection

0.00

-0.00

0.0

1.3

—

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

0.00

-0.00

0.0

1.4

—

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

0.00

-0.00

0.0

1.3

—

(36660697) Celiac disease serology panel - Serum

0.91

-0.00

1.0

1.1

—

(40760543) Extractable nuclear Ab [Presence] in Serum by Immunoblot

0.00

-0.00

0.0

1.0

—

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

0.00

-0.00

0.0

1.0

—

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

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

—

(3049539) Genetic diseases [Identifier] in Blood or Tissue by FISH Nominal

0.00

-0.00

0.0

1.0

—

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

0.00

-0.00

0.0

2.0

—

11.60

—

(3035320) C reactive protein [Mass/volume] in Body fluid

0.00

-0.00

0.0

1.9

—

51.71

—

(3011436) Histone Ab [Units/volume] in Serum

0.00

-0.00

0.0

1.2

—

(37208534) Antinuclear antibody arbitrary concentration in serum

0.00

-0.00

0.0

1.0

—

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

0.00

-0.00

0.0

1.4

—

Mortality – FinRegistry

↥

Association

Association between endpoint D3_SCIDA and mortality.

Females

Parameter	HR [95% CI]	p-value
D3_SCIDA	1.58 [1.22, 2.05]	< 0.001
Birth year	0.998 [0.99, 1.01]	0.713

During the follow-up period (1.1.1998 — 31.12.2019), 107 out of 410 females with D3_SCIDA died.

Males

Parameter	HR [95% CI]	p-value
D3_SCIDA	2.004 [1.5, 2.67]	< 0.001
Birth year	0.989 [0.98, 1.0]	0.019

During the follow-up period (1.1.1998 — 31.12.2019), 131 out of 318 males with D3_SCIDA died.

Mortality risk

Mortality risk for people of age

years, who have D3_SCIDA.

N-year risk	Females	Males
1	0.107%	0.413%
5	0.81%	2.358%
10	2.497%	6.308%
15	4.631%	11.351%
20	8.111%	18.92%

Relationships between endpoints

↥

Index endpoint: D3_SCIDA – Severe combined immunodeficiency [SCID] with reticular dysgenesis

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

Severe combined immunodeficiency [SCID] with reticular dysgenesis

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