Other congenital malformations of spinal cord

Q17_OTHER_CONGEN_MALFO_SPINAL_CORD

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 — Q06 Cause of death: ICD-10 — Q06 2 out of 7 registries used, show all original rules.	63
4. Check minimum number of events None	63
5. Include endpoints None	63
6. Filter based on genotype QC (FinnGen only)	52

Control definitions (FinnGen only)

Control exclude: Q17_CONGEN_MALFO_NERVOUS_SYSTEM

Extra metadata

Level in the ICD hierarchy: 3
First used in FinnGen datafreeze: DF4
Parent code in ICD-10: Q0
Name in latin: Aliae malformationes congenitae medullae spinalis

NAME	Q17_OTHER_CONGEN_MALFO_SPINAL_CORD
CONTROL_EXCLUDE	Q17_CONGEN_MALFO_NERVOUS_SYSTEM
CONTROL_PRECONDITIONS
CONTROL_CONDITIONS
SEX
INCLUDE
PRE_CONDITIONS
CONDITIONS
OUTPAT_ICD
OUTPAT_OPER
HD_MAINONLY
HD_ICD_10_ATC
HD_ICD_10	Q06
HD_ICD_9
HD_ICD_8
HD_ICD_10_EXCL
HD_ICD_9_EXCL
HD_ICD_8_EXCL
COD_MAINONLY
COD_ICD_10	Q06
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 Other congenital malformations of spinal cord 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	561	319	242
Only index persons	443	266	177
Unadjusted period prevalence (%)
Whole population	0.01	0.01	0.01
Only index persons	0.01	0.01	0.01
Median age at first event (years)
Whole population	-	14.91	10.34
Only index persons	22.35	26.14	16.64

-FinnGen-

Key figures

	All	Female	Male
Number of individuals	52	33	19
Unadjusted period prevalence (%)	0.01	0.01	0.01
Median age at first event (years)	46.52	47.08	45.54

-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
57: Matched controls
570

Code

Vocabulary

Description

Odds Ratio

-log₁₀(p)

N matched cases

N matched controls

Q06.8

ICD-10 Finland

Other specified congenital malformations of spinal cord

+∞

31.1

Q06.9

ICD-10 Finland

Congenital malformation of spinal cord, unspecified

+∞

15.3

ABE99

NOMESCO Finland

Other operation for spinal malformation

+∞

9.6

XKC03

NOMESCO Finland

Water cystometry

21.2

8.5

UKC02

NOMESCO Finland

Cystoscopy

7.7

7.6

S97

ICPC

Chronic ulcer skin

12.5

7.5

Q05.9

ICD-10 Finland

Spina bifida, unspecified

+∞

7.4

Q06.3

ICD-10 Finland

Other congenital cauda equina malformations

+∞

7.4

204

Kela drug reimbursment

Leukemia lymphatica

23.7

7.4

L17

ICPC

Foot/toe symptom/complaint

4.4

7.1

115

G04AC01, ,

ATC

16.9

6.7

WX700

NOMESCO Finland

Respiratory and circulatory monitoring

4.9

6.5

QDB10

NOMESCO Finland

Major dressing of wound of skin of lower limb

20.9

6.5

TKC22

NOMESCO Finland

Catheterisation instruction

+∞

6.4

G95.0

ICD-10 Finland

Syringomyelia and syringobulbia

+∞

6.4

XKD06

NOMESCO Finland

Physiologic investigation of micturition

14.8

6.4

LabWAS

↥

N Cases

N Controls

-log₁₀(p)

cases

controls

cases

controls

unit

-log₁₀(p)

N cases

N controls

(3019977) pH of Arterial blood

4.38

5.01

9.2

11.2

7.40

7.43

—

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

125

3.20

4.40

2.7

2.4

—

(3044640) Blood type and Crossmatch panel - Blood

167

3.09

4.20

3.0

2.4

—

(3014218) Bicarbonate [Moles/volume] standard in Arterial blood

6.14

4.04

5.5

12.9

24.36

26.42

mmol/l

—

(3014007) Fractional oxyhemoglobin in Arterial blood

5.13

3.27

6.9

15.1

96.22

94.52

—

(3033658) Prothrombin time (PT) actual/Normal

120

2.73

3.23

4.8

5.4

95.04

89.92

0.61

120

(3026782) Osmolality of Urine

2.81

3.14

6.2

3.2

589.65

553.68

mosm/kgh2o

0.39

(3006217) Methemoglobin/Hemoglobin.total in Arterial blood

4.65

3.03

6.6

13.5

0.56

0.75

—

(36304419) Bacteria [Presence] in Urine

142

2.53

2.87

11.3

3.8

—

estimate

—

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

250

2.56

2.79

4.1

2.8

—

estimate

—

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

2.67

2.79

9.6

3.9

1.79

0.56

e6/l

1.63

(3026008) Bacteria identified in Urine by Culture

151

2.33

2.43

10.4

2.8

—

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

2.72

2.37

5.3

9.3

105.50

104.21

mmol/l

0.46

(3023368) Bacteria identified in Blood by Culture

113

2.36

2.32

8.7

4.5

—

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

173

2.22

11.4

4.4

—

(4024509) Urine culture

3.55

2.19

2.0

—

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

232

2.15

2.05

2.8

3.1

79.83

75.18

nmol/l

0.47

213

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

2.36

1.99

11.0

5.1

1.86

1.53

e6/l

0.15

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

188

1.96

1.67

1.7

1.9

101.85

95.48

pmol/l

—

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

274

2.00

1.65

8.1

4.0

0.00

estimate

—

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

189

1.95

1.63

1.4

1.6

—

(3018095) Leukocytes [#/volume] in Urine

199

1.93

1.61

14.4

5.3

48.05

26.63

e6/l

0.43

137

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

2.38

1.56

32.9

13.1

25.45

25.38

mmol/l

0.03

(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

3.07

1.55

2.2

—

(3037467) Urinalysis macro (dipstick) panel - Urine

352

2.10

1.51

11.6

4.4

—

(1761868) Lipid panel - Serum or Plasma

179

0.46

1.37

2.5

2.7

—

(3044889) 12 lead EKG panel

318

1.86

1.29

3.7

3.6

—

(3015736) pH of Urine

223

1.73

1.18

6.0

3.6

6.53

6.31

0.60

111

(3007853) Bacteria identified in Skin by Aerobe culture

1.97

1.11

5.8

1.6

—

(3004119) Hemoglobin [Mass/volume] in Venous blood

2.27

1.10

21.3

5.5

123.71

129.36

g/l

—

(3020891) Body temperature

2.39

1.05

4.8

6.5

36.84

36.97

°c

—

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

351

0.60

1.04

3.7

32.14

40.31

u/l

0.73

343

(3022313) Gas panel - Capillary blood

2.14

1.04

38.3

12.2

—

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

1.86

1.02

3.1

5.4

23.92

24.27

—

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

271

1.63

0.96

8.2

3.9

0.00

estimate

—

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

2.27

0.95

7.0

1.4

—

(3000991) Gas panel - Venous blood

1.91

0.90

11.6

11.1

—

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

274

1.60

0.90

8.4

4.0

0.00

estimate

—

(3042936) Bacteria identified in Isolate by Culture

1.83

0.86

5.4

2.1

—

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

1.67

0.79

4.9

3.2

19.67

172.35

ng/l

—

(3000494) Fungus identified in Specimen by Culture

1.69

0.76

3.2

1.5

—

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

1.80

0.73

8.3

11.2

0.66

1.37

mmol/l

—

(3027273) Bicarbonate [Moles/volume] in Venous blood

2.01

0.72

29.2

6.5

23.50

24.08

mmol/l

—

(3024889) Methemoglobin/Hemoglobin.total in Venous blood

1.93

0.70

2.2

4.1

0.72

0.75

—

(3019060) Gas panel - Arterial blood

1.93

0.70

15.6

5.0

—

(3010517) Carboxyhemoglobin/Hemoglobin.total in Venous blood

1.86

0.68

2.2

4.0

0.70

1.46

—

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

143

1.49

0.64

4.4

3.6

0.00

estimate

—

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

0.00

0.61

0.0

1.5

—

(44816559) Phosphatidylethanol [Mass/volume] in Blood

0.00

0.60

0.0

1.6

—

0.29

—

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

1.56

0.53

2.8

3.8

—

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

1.56

0.50

10.7

7.0

24.83

24.13

mmol/l

—

(3013512) EKG study

150

0.67

0.50

2.0

3.3

—

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

139

0.66

0.49

3.5

2.1

—

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

1.54

0.48

2.8

3.3

13.47

24.93

—

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

391

0.73

0.47

5.6

4.6

12.20

10.29

mm/h

0.33

367

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

1.46

0.47

1.7

1.5

—

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

1.49

0.45

3.5

3.2

8.26

14.52

umol/l

3.66

(40761535) Cells panel - Urine sediment

1.62

0.43

3.8

4.1

—

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

1.41

0.43

5.1

2.3

—

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

1.39

0.42

4.4

2.3

—

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

107

1.41

0.42

2.9

5.2

1.83

1.98

ug/l

0.10

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

0.00

0.42

0.0

1.3

—

(3043747) Beta 2 globulin [Mass/volume] in Serum or Plasma by Electrophoresis

0.00

0.42

0.0

1.1

—

3.56

—

(3005229) Alpha 2 globulin [Mass/volume] in Serum or Plasma by Electrophoresis

0.00

0.42

0.0

1.1

—

7.73

—

(3043723) Beta 1 globulin [Mass/volume] in Serum or Plasma by Electrophoresis

0.00

0.42

0.0

1.1

—

4.90

—

(4034850) Laboratory test

0.00

0.42

0.0

6.8

—

(3002256) Pathology report gross observation

1.46

0.41

1.3

1.1

—

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

0.00

0.41

0.0

1.5

—

58.20

—

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

117

1.38

0.40

2.9

2.3

1.96

2.68

mg/l

1.22

105

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

140

0.73

0.33

2.6

1.8

—

(40768797) Stomach Pathology biopsy report

1.31

0.31

1.1

1.2

—

(3017732) Neutrophils [#/volume] in Blood

1.28

0.31

2.0

2.6

4.81

8.59

e9/l

—

(3021589) Normoblasts [#/volume] in Blood

252

0.79

0.30

10.0

11.6

0.00

e9/l

-0.00

204

(36660697) Celiac disease serology panel - Serum

1.34

0.30

1.0

1.3

—

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

1.29

0.29

3.3

2.1

—

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

1.22

0.26

4.7

2.5

—

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

251

1.23

0.26

3.4

3.3

69.21

82.82

ug/l

0.44

243

(40758558) Short blood count panel - Blood

184

1.22

0.24

4.9

7.8

—

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

100

0.77

0.23

1.8

1.3

—

(3027315) Oxygen [Partial pressure] in Blood

0.00

0.21

0.0

4.2

—

8.49

—

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

0.00

0.21

0.0

1.1

—

(3013290) Carbon dioxide [Partial pressure] in Blood

0.00

0.21

0.0

4.2

—

5.22

—

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

0.00

0.21

0.0

1.5

—

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

0.00

0.21

0.0

4.0

—

15.40

—

(3019539) Treponema pallidum Ab [Titer] in Serum by Hemagglutination

0.00

0.21

0.0

1.4

—

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

0.00

0.21

0.0

1.5

—

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

0.00

0.21

0.0

1.1

—

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

0.00

0.21

0.0

1.1

—

(3007566) Smooth muscle Ab [Titer] in Serum

0.00

0.21

0.0

1.1

—

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

0.00

0.21

0.0

1.1

—

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

0.00

0.21

0.0

1.0

—

0.00

—

(3034770) Mitochondria Ab [Titer] in Serum

0.00

0.21

0.0

1.1

—

(4094501) Cardiovascular stress test using bicycle ergometer

0.00

0.21

0.0

1.2

—

(3029713) Protein.monoclonal band 1 [Mass/volume] in Serum or Plasma by Electrophoresis

0.00

0.20

0.0

1.1

—

1.04

—

(3015322) Alpha 1 globulin [Mass/volume] in Serum or Plasma by Electrophoresis

0.00

0.20

0.0

1.1

—

2.96

—

(3023511) Choriogonadotropin [Units/volume] in Urine

0.00

0.20

0.0

1.6

—

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

0.00

0.20

0.0

2.4

—

(3035797) Protein.monoclonal band 2 [Mass/volume] in Serum or Plasma by Electrophoresis

0.00

0.20

0.0

1.1

—

0.00

—

(3023465) Gamma globulin [Mass/volume] in Serum or Plasma by Electrophoresis

0.00

0.20

0.0

1.0

—

10.55

—

(3036086) Jo-1 extractable nuclear Ab [Units/volume] in Serum by Immunoassay

0.00

0.20

0.0

1.4

—

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

317

1.18

0.18

7.0

12.1

5.01

3.96

e9/l

0.92

276

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

0.70

0.18

2.0

2.3

—

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

0.74

0.17

2.8

2.4

—

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

117

0.82

0.14

2.6

1.8

—

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

366

0.89

0.11

4.1

3.5

—

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

1.12

0.10

1.2

—

89.92

—

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

1.10

0.10

1.0

1.2

—

(21494755) Public health laboratory ask at order entry panel

1.10

0.10

1.2

—

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

1.10

0.10

5.0

5.9

—

(3022250) Lactate dehydrogenase [Enzymatic activity/volume] in Serum or Plasma by Lactate to pyruvate reaction

1.08

0.09

2.0

5.2

231.00

235.45

u/l

—

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

1.08

0.09

2.0

2.2

—

(3019832) Treponema pallidum Ab [Presence] in Serum

0.83

0.07

2.3

1.8

—

(3007220) Creatine kinase [Enzymatic activity/volume] in Serum or Plasma

138

1.12

0.07

2.3

2.5

141.20

120.21

u/l

0.16

132

(40768804) Tissue Pathology biopsy report

178

0.94

0.02

2.8

1.9

—

(40760892) CBC W Ordered Manual Differential panel - Blood

117

1.03

0.00

4.2

4.9

—

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

127

1.03

0.00

1.2

1.8

2.17

2.00

g/l

—

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

452

0.98

0.00

13.5

13.1

89.79

85.33

ml/min/173m2

0.49

402

(3051611) Lipemic interference index of Serum or Plasma

0.00

0.0

3.3

—

15.17

—

(40768441) Liver Pathology biopsy report

0.00

0.0

1.2

—

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

0.00

0.0

1.0

—

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

0.00

0.0

12.8

—

7.50

—

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

0.00

0.0

1.1

—

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

0.00

0.0

1.7

—

(3008757) Leukocyte morphology finding [Identifier] in Blood

0.00

0.0

6.3

—

(3003284) Neutrophil cytoplasmic Ab.perinuclear [Titer] in Serum by Immunofluorescence

0.00

0.0

1.0

—

(42529215) Follitropin [Units/volume] in Serum or Plasma by Immunoassay

0.00

0.0

1.5

—

33.78

—

(3029080) Hemoglobin [Entitic mass] in Reticulocytes

0.00

0.0

3.7

—

30.67

—

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

0.00

0.0

1.2

—

(44806420) Estimation of glomerular filtration rate

0.00

0.0

1.5

—

(3042631) Mycobacterium sp identified in Specimen

0.00

0.0

5.3

—

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

0.00

0.0

1.0

—

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

0.00

0.0

1.1

—

(3051651) Icteric interference index of Serum or Plasma

0.00

0.0

3.3

—

0.67

—

(44816844) Macroprolactin [Units/volume] in Serum or Plasma

0.00

0.0

1.3

—

200.67

—

(3032773) Endomysium IgG Ab [Titer] in Serum

0.00

-0.00

0.0

1.3

—

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

0.00

-0.00

0.0

1.0

—

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

0.00

-0.00

0.0

1.0

—

(3028271) Lactate [Moles/volume] in Capillary blood

0.00

-0.00

0.0

5.3

—

1.44

—

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

0.97

-0.00

2.3

1.6

—

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

0.00

-0.00

0.0

1.2

—

108.40

—

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

0.00

-0.00

0.0

2.0

—

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

0.00

-0.00

0.0

1.3

—

(40768795) Lymph node Pathology biopsy report

0.00

-0.00

0.0

1.2

—

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

0.00

-0.00

0.0

1.2

—

93.88

—

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

0.00

-0.00

0.0

1.0

—

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

0.00

-0.00

0.0

1.2

—

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

0.00

-0.00

0.0

1.0

—

1836.20

—

(21494434) Karyotype in Bone marrow

0.00

-0.00

0.0

1.4

—

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

0.00

-0.00

0.0

1.1

—

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

0.00

-0.00

0.0

1.0

—

7.12

—

(3038026) Centromere Ab [Units/volume] in Serum

0.00

-0.00

0.0

1.2

—

(3018333) Ribosomal P Ab [Presence] in Serum

0.00

-0.00

0.0

1.1

—

(3033319) Streptococcus pyogenes Ag [Presence] in Throat

1.00

-0.00

2.0

1.9

—

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

0.00

-0.00

0.0

1.1

—

(3025018) Bordetella pertussis Ab [Titer] in Serum

0.00

-0.00

0.0

1.2

—

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

0.00

-0.00

0.0

1.1

—

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

0.00

-0.00

0.0

2.0

—

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

0.00

-0.00

0.0

2.0

—

(1617658) Protocol used for examination of sentinel lymph nodes

0.00

-0.00

0.0

1.0

—

(42870588) Differential panel, method unspecified - Blood

190

1.00

-0.00

7.7

8.1

—

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

0.00

-0.00

0.0

1.1

—

(3012413) Glucose [Moles/volume] in Serum or Plasma --2 hours post meal

0.00

-0.00

0.0

1.4

—

11.16

—

(3000093) Morphology [Interpretation] in Blood Narrative

0.00

-0.00

0.0

1.1

—

(40760848) Basement membrane zone BP180 Ab [Units/volume] in Serum by Immunoassay

0.00

-0.00

0.0

1.2

—

(3044927) Protein electrophoresis panel - Urine

0.00

-0.00

0.0

1.0

—

(3001186) Copper [Moles/volume] in Serum or Plasma

0.00

-0.00

0.0

1.2

—

26.50

—

(3037756) Immunofixation for Serum or Plasma

0.00

-0.00

0.0

1.2

—

(40767503) Oxygen content in Capillary blood by calculation

0.00

-0.00

0.0

3.7

—

15.47

—

(3027953) Aldolase [Enzymatic activity/volume] in Serum or Plasma

0.00

-0.00

0.0

2.0

—

6.92

—

(3016018) Differential panel - Cerebral spinal fluid

0.00

-0.00

0.0

4.0

—

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

0.00

-0.00

0.0

1.0

—

(36033641) SARS-CoV-2 (COVID-19) Ag [Presence] in Upper respiratory specimen by Rapid immunoassay

0.00

-0.00

0.0

1.6

—

(3045142) Bone marrow Pathology biopsy report

0.00

-0.00

0.0

1.3

—

Mortality – FinRegistry

↥

Association

Association between endpoint Q17_OTHER_CONGEN_MALFO_SPINAL_CORD and mortality.

Females

No data

Males

No data

Mortality risk

Mortality risk for people of age

years, who have Q17_OTHER_CONGEN_MALFO_SPINAL_CORD.

N-year risk	Females	Males
1	No data	No data
5	No data	No data
10	No data	No data
15	No data	No data
20	No data	No data

Relationships between endpoints

↥

Index endpoint: Q17_OTHER_CONGEN_MALFO_SPINAL_CORD – Other congenital malformations of spinal cord

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

Other congenital malformations of spinal cord

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