Down's syndrome

Q17_DOWNS_SYNDR

No definition available.

Endpoint definition

↥

Endpoint definition steps	FinnGen
Phenotype data	520210
1. Apply sex-specific rule None	520210
2. Check conditions None	520210
3. Check pre-conditions, main-only, mode, registry filters Registry filters: Hospital discharge: ICD-10 — Q90 Cause of death: ICD-10 — Q90 2 out of 7 registries used, show all original rules.	133
4. Check minimum number of events None	133
5. Include endpoints None	133
6. Filter based on genotype QC (FinnGen only)	133

Control definitions (FinnGen only)

Control exclude: Q17_CHROMOSOMAL_ABNORMALITI_NOT_ELSEW_CLASSIFIED

Extra metadata

Level in the ICD hierarchy: 3
First used in FinnGen datafreeze: DF4
Parent code in ICD-10: Q9
Name in latin: Syndroma Down

NAME	Q17_DOWNS_SYNDR
CONTROL_EXCLUDE	Q17_CHROMOSOMAL_ABNORMALITI_NOT_ELSEW_CLASSIFIED
CONTROL_PRECONDITIONS
CONTROL_CONDITIONS
SEX
INCLUDE
PRE_CONDITIONS
CONDITIONS
OUTPAT_ICD
OUTPAT_OPER
HD_MAINONLY
HD_ICD_10_ATC
HD_ICD_10	Q90
HD_ICD_9
HD_ICD_8
HD_ICD_10_EXCL
HD_ICD_9_EXCL
HD_ICD_8_EXCL
COD_MAINONLY
COD_ICD_10	Q90
COD_ICD_9
COD_ICD_8
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 Down's 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	4904	2480	2418
Only index persons	3840	1967	1873
Unadjusted period prevalence (%)
Whole population	0.07	0.07	0.07
Only index persons	0.07	0.07	0.07
Median age at first event (years)
Whole population	24.93	28.56	21.16
Only index persons	28.20	30.99	25.27

-FinnGen-

Key figures

	All	Female	Male
Number of individuals	133	79	54
Unadjusted period prevalence (%)	0.03	0.03	0.02
Median age at first event (years)	27.86	33.20	20.06

-FinRegistry-

Age distribution of first events

-FinnGen-

Age distribution of first events

-FinRegistry-

Year distribution of first events

-FinnGen-

Year distribution of first events

-FinRegistry-

Cumulative Incidence Function

-FinnGen-

Cumulative Incidence Function

No data

CodeWAS (R11)

↥

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

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

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

Matched cohort

Matched cases
124: Matched controls
1239

Code

Vocabulary

Description

Odds Ratio

-log₁₀(p)

N matched cases

N matched controls

Q90.9

ICD-10 Finland

Down syndrome, unspecified

+∞

109.0

Q90.0

ICD-10 Finland

Trisomy 21, meiotic nondisjunction

+∞

84.2

Q90

ICD-10 Finland

Down syndrome

+∞

30.5

7580A

ICD-9 Finland

Chromosomal anomalies, Down's syndrome

+∞

25.9

P85

ICPC

Mental retardation

85.3

25.0

75930

ICD-8 Finland

Congenital syndromes affecting multiple systems, Down's disease

+∞

14.9

H03AA01

ATC

levothyroxine sodium; systemic

5.5

14.3

131

DCA20

NOMESCO Finland

Insertion of ventilating tube through tympanic membrane

8.6

13.5

Q21.21

ICD-10 Finland

Atrioventricular duct

+∞

12.7

Q90.1

ICD-10 Finland

Trisomy 21, mosaicism (mitotic nondisjunction)

+∞

12.7

N06DX01

ATC

memantine; oral

144.0

12.7

201

Kela drug reimbursment

Chronic cardiac insufficiency

24.3

12.4

H65.3

ICD-10 Finland

Chronic mucoid otitis media

8.4

11.6

N06DA02

ATC

donepezil; oral

48.0

11.2

WYA30

NOMESCO Finland

Preparations for expected poor cooperation

5.9

11.1

Q90.2

ICD-10 Finland

Trisomy 21, translocation

+∞

9.5

H61.2

ICD-10 Finland

Impacted cerumen

9.8

9.2

UDC00

NOMESCO Finland

Ear microscopy

7.7

9.1

O35.1

ICD-10 Finland

Maternal care for (suspected) chromosomal abnormality in fetus

14.0

9.1

Q21.10

ICD-10 Finland

Persistent ostium secundum

12.9

8.8

H72.0

ICD-10 Finland

Central perforation of tympanic membrane

29.9

8.6

E03.80

ICD-10 Finland

Hypothyroidism caused by autoimmune thyroiditis

14.2

8.6

Q25.0

ICD-10 Finland

Patent ductus arteriosus

23.9

8.2

MAA00

NOMESCO Finland

Amniocentesis

13.0

7.8

D01BA02

ATC

terbinafine; oral; topical

3.7

7.7

122

J18.9

ICD-10 Finland

Pneumonia, unspecified

3.8

7.6

117

J15.9

ICD-10 Finland

Bacterial pneumonia, unspecified

6.6

7.6

104

Kela drug reimbursment

Thyroid insufficiency

8.2

7.5

R5110

NOMESCO Finland

Evaluation of the need for aids, the testing, fitting and choice of the aid, instruction in use and delivery of it

5.7

7.4

R55

ICD-10 Finland

Syncope and collapse

6.6

7.2

L28

ICPC

Limited function/disability (L)

5.2

6.9

DFF20

NOMESCO Finland

Audiometry for children

10.9

6.7

CJE20

NOMESCO Finland

Phakoemulsification with implantation of artificial lens in posterior chamber

6.0

6.4

E03.9

ICD-10 Finland

Hypothyroidism, unspecified

4.4

6.4

ZXA10

NOMESCO Finland

Bilateral

3.6

6.3

113

Kela drug reimbursment

Anxiety disorders associated with mental retardation

+∞

6.3

7456C

ICD-9 Finland

Bulbus cordis anomalies and anomalies of cardiac septal closure, Endocardial cushion defects[ASD CANALIS ATRIOVENTRICULARIS COMMUNIS]

+∞

6.3

F71

ICD-10 Finland

Moderate mental retardation

+∞

6.3

Z31.5

ICD-10 Finland

Genetic counselling

4.6

6.2

Q21.08

ICD-10 Finland

Other specifed ventricular septal defect

10.8

6.2

E000006

ATC

7.0

6.1

LabWAS

↥

(ID) Name

N Cases

N Controls

-log₁₀(p)

cases

controls

unit

cases

controls

-log₁₀(p)

N cases

N controls

(3027238) Thyroperoxidase Ab [Units/volume] in Serum or Plasma

100

2.57

3.68

1.4

1.2

iu/ml

236.3

160.8

0.28

(3026989) Triiodothyronine (T3) Free [Moles/volume] in Serum or Plasma

2.71

3.48

2.9

3.5

pmol/l

4.9

5.0

0.06

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

228

0.31

3.34

2.1

2.2

—

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

209

0.30

3.31

2.3

2.1

—

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

101

826

1.93

2.66

6.7

3.7

pmol/l

14.6

14.5

0.33

774

(3007853) Bacteria identified in Skin by Aerobe culture

138

2.10

2.64

2.5

1.6

—

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

149

2.02

2.48

3.4

3.8

ng/l

302.4

424.9

0.18

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

6.44

2.39

1.0

—

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

266

1.78

2.31

2.0

1.8

pmol/l

89.8

94.8

0.24

145

(3023024) Carbon dioxide [Partial pressure] in Capillary blood

153

1.96

2.30

7.7

10.7

kpa

5.4

5.0

2.55

146

(3009343) pH of Capillary blood

153

1.96

2.30

7.7

10.6

—

7.4

—

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

5.72

2.23

1.6

1.0

—

(3023368) Bacteria identified in Blood by Culture

219

1.81

2.21

3.6

4.3

—

(3032080) INR in Blood by Coagulation assay

255

1.75

2.12

11.5

6.5

inr

1.3

1.1

—

(40765089) Chromosome analysis panel - Blood by G-banded

5.15

2.09

1.2

1.1

—

(36660697) Celiac disease serology panel - Serum

143

1.92

2.07

1.6

1.3

—

(3000494) Fungus identified in Specimen by Culture

121

1.98

2.03

1.2

1.5

—

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

339

1.65

1.96

2.1

1.6

u/ml

14.2

2.2

—

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

0.00

1.93

0.0

1.5

—

(40768804) Tissue Pathology biopsy report

358

0.54

1.90

1.5

1.8

—

(1761868) Lipid panel - Serum or Plasma

379

0.55

1.87

2.1

—

(3022313) Gas panel - Capillary blood

133

1.88

1.85

6.6

10.5

—

(21494755) Public health laboratory ask at order entry panel

149

0.37

1.77

1.3

—

(1616796) Gas panel - Central venous blood

3.95

1.73

5.8

6.2

—

(3021440) Promyelocytes/100 leukocytes in Blood

2.26

1.67

3.8

7.8

0.0

0.1

—

(3032773) Endomysium IgG Ab [Titer] in Serum

2.78

1.60

1.1

1.0

—

(3017181) Myelocytes/100 leukocytes in Blood

2.11

1.54

3.7

6.9

0.7

—

(3012516) Albumin [Mass/volume] in Urine

166

1.70

1.52

3.7

3.2

mg/l

89.5

434.8

0.42

114

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

899

0.66

1.52

3.0

3.2

mmol/l

1.1

1.2

0.94

848

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

336

0.59

1.47

1.9

1.6

—

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

2.34

1.43

7.0

5.9

44.5

61.0

—

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

2.34

1.43

1.1

—

2.6

—

(3019060) Gas panel - Arterial blood

2.28

1.40

14.9

17.5

—

(3020682) Albumin/Creatinine [Ratio] in Urine

172

1.64

1.34

4.2

3.8

mg/mmol

13.9

8.2

0.26

113

(3016251) Hemoglobin.gastrointestinal [Presence] in Stool

2.30

1.26

2.0

2.3

—

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

129

0.44

1.24

2.0

1.6

—

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

2.08

1.20

1.4

—

(3036481) Cortisol [Moles/volume] in Serum or Plasma

120

1.68

1.16

3.4

2.4

nmol/l

346.4

351.5

0.04

109

(3021901) Oxygen saturation in Capillary blood

2.56

1.16

4.0

2.9

—

(3035637) Corticotropin [Mass/volume] in Plasma

2.25

1.10

2.3

1.8

—

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

106

961

1.51

1.09

7.7

4.2

mu/l

2.7

1.9

4.44

100

902

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

311

0.65

1.04

2.1

2.0

—

(3013139) Helicobacter pylori Ag [Presence] in Stool

1.94

1.03

1.1

1.2

—

(3000330) Specific gravity of Urine by Test strip

2.05

1.01

2.0

2.3

—

(3006999) Ribonucleoprotein extractable nuclear Ab [Units/volume] in Serum

0.00

0.99

0.0

1.3

—

13.6

—

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

178

0.58

0.91

2.4

1.6

—

(42870588) Differential panel, method unspecified - Blood

437

1.35

0.90

4.3

8.7

—

(3013115) Eosinophils [#/volume] in Blood

638

1.32

0.82

4.8

8.3

e9/l

0.1

0.2

7.72

551

(3024354) Oxygen [Partial pressure] in Venous blood

141

1.49

0.80

4.6

11.6

kpa

4.6

5.2

0.85

141

(3003031) Transferrin.carbohydrate deficient.disialo/Transferrin.total in Serum or Plasma

160

0.59

0.80

1.0

1.5

1.3

1.4

—

150

(3002030) Lymphocytes/100 leukocytes in Blood

610

1.31

0.79

5.3

7.9

32.1

33.4

0.39

589

(40768793) Breast Pathology biopsy report

0.00

0.79

0.0

1.2

—

(21492711) Cytomegalovirus IgG Ab avidity [Presence] in Serum or Plasma by Immunoassay

0.00

0.78

0.0

1.7

—

(3000963) Hemoglobin [Mass/volume] in Blood

123

1271

0.57

0.78

20.6

18.1

g/l

137.2

135.5

0.69

123

1258

(3006315) Basophils [#/volume] in Blood

622

1.30

0.76

4.6

7.5

e9/l

0.1

0.0

3.47

529

(3001604) Monocytes [#/volume] in Blood

622

1.30

0.76

4.7

7.5

e9/l

0.5

0.6

0.39

529

(3009542) Hematocrit [Volume Fraction] of Blood

106

1125

0.72

0.75

15.0

14.9

39.3

40.2

0.48

972

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

1.62

0.73

12.0

26.3

—

(3005719) IgG [Mass/volume] in Serum or Plasma

118

0.57

0.72

2.3

g/l

9.8

9.1

—

113

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

851

0.77

0.71

8.4

ml/min/173m2

90.9

94.2

0.74

657

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

120

1.48

0.68

2.1

1.8

—

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

926

0.77

0.68

3.4

3.5

mmol/l

1.5

0.07

873

(3019198) Lymphocytes [#/volume] in Blood

639

1.28

0.67

4.6

7.7

e9/l

1.9

2.2

2.10

558

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

1.57

0.65

8.8

7.1

—

(3022096) Basophils/100 leukocytes in Blood

573

1.26

0.63

5.2

8.1

1.0

0.6

3.50

547

(4094501)

0.00

0.60

0.0

1.0

—

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

0.00

0.60

0.0

13.3

—

1535.0

—

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

327

1.27

0.56

3.3

3.6

—

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

1.65

0.56

1.5

—

(3045414) Leukocytes [Presence] in Urine

1.65

0.56

1.2

1.6

—

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

257

0.74

0.56

2.1

1.7

—

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

699

1.24

0.56

5.2

11.7

e9/l

3.7

3.8

0.15

595

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

1.54

0.56

1.3

2.0

—

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

126

1.40

0.55

2.2

1.9

—

(3030366) Cystatin C [Mass/volume] in Serum or Plasma

1.46

0.53

3.7

18.1

mg/l

1.1

—

(3037522) Nuclear Ab [Titer] in Serum

154

1.35

0.52

1.2

1.5

—

452.4

—

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

108

0.63

0.51

2.3

1.6

—

(3002385) Erythrocyte distribution width [Ratio]

1034

0.80

0.47

15.1

15.2

13.8

13.4

2.67

1021

(3022621) pH of Urine by Test strip

1.42

0.46

1.6

2.2

—

(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

1.39

0.45

1.6

—

(3015736) pH of Urine

394

1.21

0.44

4.6

3.2

—

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

0.61

0.44

1.2

1.0

—

(3004588) Protein electrophoresis panel - Serum or Plasma

1.58

0.42

1.0

3.2

—

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

934

0.83

0.42

4.1

3.7

mmol/l

2.9

0.13

877

(3014007) Fractional oxyhemoglobin in Arterial blood

1.35

0.41

21.3

18.7

96.5

93.3

—

(4198724)

0.00

0.41

0.0

1.6

—

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

0.00

0.40

0.0

1.2

—

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

0.00

0.39

0.0

1.0

—

(3028369) Herpes simplex virus 1+2 DNA [Presence] in Specimen by NAA with probe detection

0.00

0.39

0.0

1.3

—

(40761536) Microorganisms panel - Urine sediment

0.62

0.36

2.4

2.9

—

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

1.41

0.35

1.7

1.4

—

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

1.29

0.32

1.0

1.1

—

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

196

0.79

0.32

1.6

1.5

—

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

935

0.85

0.32

3.3

3.5

mmol/l

4.7

0.33

888

(3002256) Pathology report gross observation

100

0.68

0.32

1.3

1.2

—

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

157

1.25

0.31

2.2

2.0

—

(3042936) Bacteria identified in Isolate by Culture

139

1.26

0.31

1.8

2.2

—

(3025941) Bacteria identified in Stool by Culture

1.24

0.29

1.4

1.2

—

(3019225) pH of Specimen

1.24

0.29

4.6

4.9

—

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

498

1.14

0.27

5.7

4.7

estimate

0.0

—

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

179

1.21

0.27

2.8

2.7

e6/l

16.3

4.4

0.75

157

(42870560) Thyrotropin [Units/volume] in Cord blood

0.68

0.27

1.0

mu/l

16.9

8.7

—

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

105

1.26

0.26

10.8

19.8

mmol/l

1.2

1.3

0.08

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

133

1.23

0.25

3.7

2.5

umol/l

15.9

13.7

0.60

125

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

366

0.87

0.24

2.2

1.8

—

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

181

1.19

0.24

1.2

iu/ml

12.0

27.7

—

(3037467) Urinalysis macro (dipstick) panel - Urine

681

1.12

0.24

4.3

3.9

—

(3026493) Urate [Moles/volume] in Serum or Plasma

210

1.17

0.24

3.3

umol/l

18977.9

4256.9

0.35

194

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

1.36

0.24

1.8

2.0

—

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

1.36

0.24

2.6

1.5

—

(3033319) Streptococcus pyogenes Ag [Presence] in Throat

241

0.85

0.23

1.4

1.8

—

(3044640) Blood type and Crossmatch panel - Blood

288

1.15

0.22

2.9

2.7

—

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

337

1.14

0.22

2.1

1.5

g/l

1.9

2.0

0.12

195

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

1.23

0.22

1.8

1.7

—

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

504

1.12

0.22

4.5

3.3

estimate

0.0

—

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

105

0.75

0.22

1.9

1.5

—

(3017766) Complement C4 [Mass/volume] in Serum or Plasma

1.20

0.21

1.6

1.4

g/l

0.2

—

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

1.20

0.21

2.0

—

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

0.00

0.21

0.0

1.2

—

(3009550) Parvovirus B19 IgG Ab [Titer] in Serum

0.00

0.21

0.0

1.1

—

(3010375) cycloSPORINE [Mass/volume] in Blood

0.00

0.21

0.0

38.7

—

166.8

—

(3024666) Lithium, Blood [Moles/volume] in Serum or Plasma

0.00

0.21

0.0

10.1

—

0.7

—

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

0.00

0.21

0.0

1.4

—

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

0.00

0.21

0.0

1.6

—

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

0.00

0.21

0.0

1.4

—

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

0.00

0.21

0.0

1.4

—

(3035999) Lactate [Moles/volume] in Cerebral spinal fluid

0.00

0.21

0.0

2.0

—

1.7

—

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

0.00

0.21

0.0

1.4

—

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

0.00

0.21

0.0

1.4

—

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

0.00

0.21

0.0

1.4

—

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

0.00

0.21

0.0

2.5

—

1022.3

—

(3039443) Prostate specific Ag panel - Serum or Plasma

0.00

0.21

0.0

1.4

—

(44813793)

0.00

0.21

0.0

1.0

—

(40762119) U1 small nuclear ribonucleoprotein 70kD Ab [Units/volume] in Serum

0.00

0.21

0.0

1.3

—

(3028531) Enolase.neuron specific [Mass/volume] in Serum or Plasma

0.00

0.21

0.0

2.3

—

24.5

—

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

0.00

0.21

0.0

1.4

—

(3012202) Varicella zoster virus DNA [Presence] in Specimen by NAA with probe detection

0.00

0.21

0.0

1.1

—

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

0.00

0.21

0.0

4.5

—

24.0

—

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

0.00

0.21

0.0

1.4

—

(3000991) Gas panel - Venous blood

146

1.19

0.20

9.2

12.4

—

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

122

0.81

0.20

2.0

—

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

1.21

0.20

1.7

1.6

—

(40758558) Short blood count panel - Blood

320

1.13

0.20

3.3

7.6

—

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

164

0.84

0.19

2.0

3.2

e6/l

4.1

2.4

—

(3026008) Bacteria identified in Urine by Culture

225

1.14

0.17

3.5

2.5

—

(36304419) Bacteria [Presence] in Urine

276

0.88

0.17

2.8

3.3

—

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

120

1.19

0.17

3.4

2.5

g/l

2.5

0.19

111

(3019832) Treponema pallidum Ab [Presence] in Serum

192

0.87

0.16

2.3

1.7

—

(3004410) Hemoglobin A1c/Hemoglobin.total in Blood

822

1.09

0.15

5.4

3.9

mmol/mol

40.2

37.9

0.82

784

(3021589) Normoblasts [#/volume] in Blood

542

1.09

0.15

5.0

10.0

e9/l

0.2

0.0

0.50

415

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

0.80

0.14

1.9

—

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

252

1.09

0.10

5.0

3.5

—

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

1.04

0.09

1.6

1.7

—

(3018095) Leukocytes [#/volume] in Urine

342

1.07

0.09

2.8

4.2

e6/l

14.5

51.8

1.24

218

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

888

0.94

0.08

3.5

3.3

mmol/l

6.1

5.7

0.80

830

(3041096) Erythrocytes [Presence] in Urine by Automated

264

1.08

0.08

3.4

2.6

—

(3013721) Aspartate aminotransferase [Enzymatic activity/volume] in Serum or Plasma

367

0.94

0.08

4.7

3.7

u/l

33.7

28.9

0.58

353

(40761535) Cells panel - Urine sediment

1.10

0.08

11.0

3.2

—

(3044889) 12 lead EKG panel

572

1.06

0.08

3.8

2.7

—

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

1.03

0.08

1.4

6.6

85.7

89.0

—

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

122

0.89

0.07

1.7

1.9

—

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

207

1.08

0.06

3.1

2.8

—

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

366

1.05

0.06

5.7

3.1

—

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

111

1122

0.94

0.05

14.7

11.6

mg/l

24.8

20.7

0.60

828

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

159

1.08

0.05

8.3

17.6

mmol/l

25.9

24.3

1.80

159

(3013512) EKG study

179

1.07

0.05

3.1

3.0

—

(40761511) CBC panel - Blood by Automated count

114

1150

0.94

0.04

13.1

9.3

—

(40760892) CBC W Ordered Manual Differential panel - Blood

260

1.05

0.03

4.6

4.3

—

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

270

0.95

0.03

2.8

3.4

e6/l

0.2

0.28

189

(3000492) Spirometry study

1.09

0.03

1.2

1.4

—

(3013742) Prealbumin [Mass/volume] in Serum or Plasma

102

1.09

0.03

2.8

4.1

g/l

0.2

0.11

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

252

1.04

0.02

6.1

3.3

estimate

0.0

—

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

428

0.97

0.02

4.6

4.7

—

(40768797) Stomach Pathology biopsy report

104

0.96

0.00

1.2

—

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

179

1.01

0.00

1.3

1.2

u/ml

5.5

8.2

—

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

247

1.01

0.00

3.1

2.7

ng/l

24.3

17.0

0.47

120

(3002582) Erythrocytes [#/volume] in Urine

293

0.99

0.00

2.7

3.4

e6/l

47.9

34.2

0.19

212

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

101

1013

0.99

0.00

3.4

3.8

—

(3019420) Tryptase [Mass/volume] in Serum or Plasma

0.00

0.0

2.0

—

6.9

—

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

0.00

0.0

1.0

—

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

0.00

0.0

1.2

—

(3016845) Adenovirus Ag [Presence] in Specimen by Immunofluorescence

0.00

0.0

1.0

—

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

0.00

0.0

1.3

—

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

0.00

0.0

1.1

—

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

0.00

0.0

1.0

—

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

0.91

0.00

1.2

1.9

—

(3051651) Icteric interference index of Serum or Plasma

0.00

0.0

2.1

—

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

0.00

0.0

1.7

—

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

0.00

0.0

1.2

—

(3029080) Hemoglobin [Entitic mass] in Reticulocytes

0.00

0.0

3.9

—

33.1

—

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

0.00

0.0

2.2

—

(3019250) Coagulation factor VIII activity actual/normal in Platelet poor plasma by Coagulation assay

0.87

0.00

1.4

5.5

138.8

168.3

—

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

0.00

0.0

1.3

—

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

1.02

0.00

2.1

1.3

—

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

0.00

0.0

1.2

—

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

0.00

0.0

1.3

—

4.8

—

(3029075) Extractable nuclear Ab panel - Serum

0.00

0.0

1.0

—

(3010015) Selenium [Moles/volume] in Serum or Plasma

0.00

0.0

3.0

—

1.0

—

(3018658) Beta 2 glycoprotein 1 IgG Ab [Units/volume] in Serum

0.00

0.0

1.2

—

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

0.00

0.0

2.0

—

(3002621) Streptococcal DNAse B [Units/volume] in Serum

0.00

0.0

1.0

—

(3024471) HLA-A [Type]

0.00

0.0

1.0

—

(3004905) Lipase [Enzymatic activity/volume] in Serum or Plasma

0.00

0.0

5.2

—

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

0.00

0.0

4.9

—

82.5

—

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

0.00

0.0

2.0

—

(3036071) Salmonella sp Ab [Titer] in Serum

0.00

0.0

1.0

—

(3032390) JC virus DNA [#/volume] (viral load) in Urine by NAA with probe detection

0.00

0.0

4.9

—

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

0.00

0.0

2.0

—

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

0.00

0.0

2.0

—

(3016031) Almond IgE Ab [Units/volume] in Serum

0.00

0.0

1.2

—

2.7

—

(3036048) Francisella tularensis Ab [Titer] in Serum

0.00

0.0

1.0

—

(40761995) Spermatozoa Progressive [#/volume] in Semen

0.00

0.0

1.9

—

(3037556) Urate [Mass/volume] in Serum or Plasma

0.00

0.0

1.0

—

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

0.00

0.0

1.0

—

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

0.00

0.0

1.2

—

(3016273) Islet cell 512 Ab [Units/volume] in Serum

0.00

0.0

1.0

—

(21494262) English walnut recombinant (rJug r) 3 IgE Ab [Units/volume] in Serum

0.00

0.0

1.0

—

2.9

—

(3042631) Mycobacterium sp identified in Specimen

0.00

0.0

1.4

—

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

0.00

0.0

2.2

—

(3032185) JC virus DNA [#/volume] (viral load) in Serum or Plasma by NAA with probe detection

0.00

0.0

6.5

—

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

0.00

0.0

1.3

—

0.9

—

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

0.00

0.0

1.2

—

(21494890) Protein electrophoresis panel - 24 hour Urine

0.00

0.0

7.2

—

(3003752) BK virus DNA [Units/volume] (viral load) in Urine by NAA with probe detection

0.00

0.0

4.9

—

(3017704) Immunofixation for Urine

0.00

0.0

1.0

—

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

0.00

0.0

2.0

—

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

0.00

0.0

1.3

—

(3002670) Multiple inhalant allergen IgE Ab [Units/volume] in Serum

0.00

0.0

2.9

—

(3000012) Reticulocyte production index

0.00

0.0

1.8

—

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

0.00

0.0

1.0

—

7.4

—

(40767663) Brazil Nut recombinant (rBer e) 1 IgE Ab [Units/volume] in Serum

0.00

0.0

1.3

—

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

0.00

0.0

1.3

—

(42868417) European tick borne encephalitis virus IgG Ab [Presence] in Serum by Immunoassay

0.00

0.0

1.4

—

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

0.00

0.0

2.0

—

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

0.00

0.0

1.3

—

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

0.00

0.0

4.1

—

(40765096) Chromosome analysis panel by Banding

0.00

0.0

2.0

—

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

0.00

0.0

1.3

—

(3010838) Calcium [Moles/time] in 24 hour Urine

0.00

0.0

1.0

—

(3000504) BK virus DNA [Units/volume] (viral load) in Serum or Plasma by NAA with probe detection

0.00

0.0

8.7

—

(3014043) Spermatozoa Nonprogressive/100 spermatozoa in Semen

0.00

0.0

3.7

—

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

0.00

0.0

1.6

—

(3013924) Clostridium tetani IgG Ab [Units/volume] in Serum

0.00

0.0

1.4

—

(3024932) HLA-DR beta [Type]

0.00

0.0

1.3

—

(3042299) inFLIXimab [Mass/volume] in Serum or Plasma

0.00

0.0

16.8

—

7.0

—

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

0.00

0.0

1.3

—

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

0.00

0.0

1.2

—

(3023530) 17-Hydroxyprogesterone [Moles/volume] in Serum or Plasma

0.00

0.0

1.0

—

1.5

—

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

0.00

0.0

2.0

—

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

0.00

0.0

2.0

—

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

0.00

0.0

1.0

—

(42870308) Desmosome IgG Ab [Titer] in Serum by Immunofluorescence

0.00

0.0

1.0

—

(3030136) 5-Hydroxyindoleacetate [Moles/volume] in Serum or Plasma

0.00

0.0

1.2

—

67.4

—

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

0.00

0.0

1.2

—

(3049714) Procollagen type I.N-terminal propeptide [Mass/volume] in Serum

0.00

0.0

5.0

—

259.7

—

(3045066) Thymidine kinase [Enzymatic activity/volume] in Serum

0.00

0.0

1.2

—

10.5

—

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

170

1.00

0.00

2.2

3.2

e6/l

0.4

0.6

—

(3020630) Protein [Mass/volume] in Serum or Plasma

1.00

0.00

5.8

3.4

g/l

67.1

66.3

—

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

0.00

0.0

2.0

—

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

0.00

0.0

2.2

—

(40768795) Lymph node Pathology biopsy report

0.00

0.0

1.4

—

(3018559) Microscopic observation [Identifier] in Buccal smear by Cyto stain

0.00

0.0

1.2

—

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

0.00

0.0

1.3

—

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

0.00

0.0

1.3

—

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

0.89

0.00

2.9

2.6

—

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

0.00

0.0

26.6

—

0.7

—

Mortality – FinRegistry

↥

Association

Association between endpoint Q17_DOWNS_SYNDR and mortality.

Females

Parameter	HR [95% CI]	p-value
Q17_DOWNS_SYNDR	22.482 [18.61, 27.16]	< 0.001
Birth year	0.996 [0.99, 1.0]	0.401

During the follow-up period (1.1.1998 — 31.12.2019), 431 out of 2003 females with Q17_DOWNS_SYNDR died.

Males

Parameter	HR [95% CI]	p-value
Q17_DOWNS_SYNDR	13.673 [11.73, 15.94]	< 0.001
Birth year	0.986 [0.98, 1.0]	0.005

During the follow-up period (1.1.1998 — 31.12.2019), 435 out of 1936 males with Q17_DOWNS_SYNDR died.

Mortality risk

Mortality risk for people of age

years, who have Q17_DOWNS_SYNDR.

N-year risk	Females	Males
1	2.285%	2.585%
5	13.214%	14.193%
10	29.186%	33.047%
15	48.666%	52.566%
20	69.195%	72.468%

Relationships between endpoints

↥

Index endpoint: Q17_DOWNS_SYNDR – Down's syndrome

GWS hits: -

Endpoint

Case Overlap

Survival Analysis

Genetic Correlations

Genetic Signals

N (Jaccard index)

HR [CI]

Extremity

rg [CI]

Extremity

Hits

Coloc Hits

FinRegistry

FinnGen

FinRegistry

FinnGen

Loading data

Down's syndrome

Endpoint definition

Endpoint definition steps

FinnGen

Phenotype data

1. Apply sex-specific rule

2. Check conditions

3. Check pre-conditions, main-only, mode, registry filters

4. Check minimum number of events

5. Include endpoints

6. Filter based on genotype QC (FinnGen only)

Similar endpoints

Case counts by codes

Summary Statistics

-FinRegistry-

Key figures

-FinnGen-

Key figures

-FinRegistry-

Age distribution of first events

-FinnGen-

Age distribution of first events

-FinRegistry-

Year distribution of first events

-FinnGen-

Year distribution of first events

-FinRegistry-

Cumulative Incidence Function

-FinnGen-

Cumulative Incidence Function

CodeWAS (R11)

Matched cohort

LabWAS

Mortality – FinRegistry

Association

Females

Males

Mortality risk

Relationships between endpoints