Congenital retinoschisis

Q17_CONGENITAL_RETINOSCHISIS

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 — Q14.10 Cause of death: ICD-10 — Q14.10 2 out of 7 registries used, show all original rules.	75
4. Check minimum number of events None	75
5. Include endpoints None	75
6. Filter based on genotype QC (FinnGen only)	72

Control definitions (FinnGen only)

Controls for this endpoint are individuals that are not cases.

NAME	Q17_CONGENITAL_RETINOSCHISIS
CONTROL_EXCLUDE
CONTROL_PRECONDITIONS
CONTROL_CONDITIONS
SEX
INCLUDE
PRE_CONDITIONS
CONDITIONS
OUTPAT_ICD
OUTPAT_OPER
HD_MAINONLY
HD_ICD_10_ATC
HD_ICD_10	Q1410
HD_ICD_9
HD_ICD_8
HD_ICD_10_EXCL
HD_ICD_9_EXCL
HD_ICD_8_EXCL
COD_MAINONLY
COD_ICD_10	Q1410
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 Congenital retinoschisis 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-

This endpoint is excluded (different definition than used in FinnGen).

-FinnGen-

Key figures

	All	Female	Male
Number of individuals	72	30	42
Unadjusted period prevalence (%)	0.02	0.01	0.02
Median age at first event (years)	56.44	58.04	55.29

-FinnGen-

Age distribution of first events

-FinnGen-

Year distribution of first events

-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
75: Matched controls
750

Code

Vocabulary

Description

Odds Ratio

-log₁₀(p)

N matched cases

N matched controls

Q14.10

ICD-10 Finland

Congenital retinoschis

+∞

107.8

H33.1

ICD-10 Finland

Retinoschisis and retinal cysts

115.3

23.3

H35.5

ICD-10 Finland

Hereditary retinal dystrophy

+∞

8.5

CKC12

NOMESCO Finland

Photocoagulation of retina

9.8

7.2

LabWAS

↥

N Cases

N Controls

-log₁₀(p)

cases

controls

cases

controls

unit

-log₁₀(p)

N cases

N controls

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

5.86

3.63

2.8

1.8

—

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

10.72

3.56

1.0

1.5

—

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

5.23

3.36

2.8

1.9

—

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

9.18

3.32

1.0

1.4

—

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

309

2.26

2.92

6.7

8.4

1.22

1.21

mmol/l

0.36

258

(3022217) INR in Platelet poor plasma by Coagulation assay

306

2.06

2.38

7.6

11.3

1.31

1.25

inr

0.18

(42868544) Hantavirus puumala IgM Ab [Presence] in Serum or Plasma by Immunofluorescence

5.86

2.25

1.2

1.0

—

(3023368) Bacteria identified in Blood by Culture

171

2.02

2.11

5.5

5.0

—

(3035285) Chloride [Moles/volume] in Venous blood

5.27

2.10

3.2

2.7

105.60

107.50

mmol/l

—

(3033705) Calcium.ionized [Moles/volume] in Venous blood

5.27

2.10

3.2

2.7

—

(3041354) Potassium [Moles/volume] in Venous blood

5.27

2.10

3.2

2.7

4.00

4.02

mmol/l

—

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

238

1.88

1.90

5.8

4.3

—

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

3.74

1.88

1.7

1.4

—

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

100

2.05

1.72

2.3

1.8

—

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

3.75

1.64

1.0

1.5

—

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

295

1.76

1.59

8.9

5.5

0.00

estimate

—

(3024889) Methemoglobin/Hemoglobin.total in Venous blood

2.59

1.59

12.1

4.9

0.79

0.66

—

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

3.49

1.55

4.0

1.7

—

(1761482) Bacteria [#/volume] in Urine by Culture

3.01

1.54

11.5

5.8

—

(3037467) Urinalysis macro (dipstick) panel - Urine

408

1.78

1.49

5.7

4.4

—

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

2.87

1.46

1.2

1.1

—

(3038515) Glucose [Moles/volume] in Venous blood

3.27

1.46

5.0

4.6

7.72

6.93

mmol/l

—

(3041096) Erythrocytes [Presence] in Urine by Automated

173

1.77

1.44

6.6

4.2

—

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

486

1.85

1.40

8.5

8.3

72.50

84.62

u/l

1.97

464

(40761511) CBC panel - Blood by Automated count

632

2.61

1.40

16.7

14.5

—

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

3.07

1.38

5.0

4.4

1.48

1.60

mmol/l

—

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

304

1.68

1.36

5.5

4.1

0.00

estimate

—

(3010517) Carboxyhemoglobin/Hemoglobin.total in Venous blood

2.51

1.34

12.1

4.8

0.65

1.29

—

(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

2.51

1.34

1.6

1.5

—

(3026008) Bacteria identified in Urine by Culture

171

1.69

1.24

4.9

2.9

—

(3000620) Complement C3 [Mass/volume] in Serum or Plasma

2.74

1.23

1.8

1.5

1.28

1.16

g/l

—

(3020682) Albumin/Creatinine [Ratio] in Urine

189

1.67

1.23

3.5

3.9

11.12

9.91

mg/mmol

0.06

120

(3022914) Cancer Ag 19-9 [Units/volume] in Serum or Plasma

0.00

1.19

0.0

3.3

—

348.02

—

(3013512) EKG study

173

1.67

1.19

5.4

4.3

—

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

2.11

1.17

1.4

1.6

—

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

2.60

1.17

1.0

1.5

—

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

303

1.60

1.16

5.6

4.0

0.00

estimate

—

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

2.12

1.16

12.5

6.2

125.12

129.63

g/l

—

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

2.48

1.11

1.0

1.5

—

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

2.48

1.11

1.8

2.1

—

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

567

1.88

1.10

16.2

15.4

76.42

79.39

ml/min/173m2

0.48

459

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

144

1.64

1.02

2.2

2.5

—

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

0.00

1.00

0.0

1.1

—

(3019225) pH of Specimen

1.94

0.97

5.0

4.8

—

(3022313) Gas panel - Capillary blood

2.24

0.94

6.2

2.6

—

(3000330) Specific gravity of Urine by Test strip

2.24

0.94

11.3

4.9

—

(3004490) Bicarbonate [Moles/volume] standard in Capillary blood

2.24

0.94

5.5

3.1

26.00

24.59

mmol/l

—

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

2.16

0.91

4.5

4.7

24.48

24.05

mmol/l

—

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

1.96

0.91

1.6

1.3

—

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

2.08

0.89

6.3

4.1

43.97

49.25

—

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

1.87

0.87

1.3

1.8

—

(3019550) Sodium [Moles/volume] in Serum or Plasma

628

1.89

0.87

21.0

17.8

139.24

139.72

mmol/l

0.87

612

(3044640) Blood type and Crossmatch panel - Blood

195

1.51

0.86

2.3

2.6

—

(40768797) Stomach Pathology biopsy report

1.68

0.85

1.4

1.2

—

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

0.47

0.85

2.0

1.5

—

(3007853) Bacteria identified in Skin by Aerobe culture

1.74

0.84

1.7

1.5

—

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

618

1.79

0.83

17.9

15.9

22.49

22.65

mg/l

0.01

491

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

350

1.45

0.81

2.9

3.0

—

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

0.00

0.80

0.0

2.3

—

0.38

—

(3000494) Fungus identified in Specimen by Culture

1.75

0.80

1.5

1.4

—

(4035726) Immunohistochemistry procedure

1.72

0.77

1.3

—

(3023103) Potassium [Moles/volume] in Serum or Plasma

632

1.81

0.75

21.4

17.9

3.97

4.00

mmol/l

0.34

614

(4200892) Spirometry reversibility

1.83

0.73

1.4

1.6

—

(3004588) Protein electrophoresis panel - Serum or Plasma

1.65

0.67

5.3

1.4

—

(3018010) Neutrophils/100 leukocytes in Blood

309

1.39

0.67

6.8

6.6

60.50

57.28

0.73

292

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

1.58

0.66

1.5

2.4

2.52

2.31

g/l

1.07

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

291

1.38

0.64

2.4

2.7

—

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

1.67

0.64

2.5

5.05

7.71

ug/l

—

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

169

1.43

0.63

3.7

4.4

0.00

estimate

—

(3025941) Bacteria identified in Stool by Culture

1.64

0.63

1.4

—

(3022096) Basophils/100 leukocytes in Blood

302

1.37

0.62

6.5

6.8

0.73

0.66

0.33

284

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

453

1.39

0.61

3.8

15.08

14.94

pmol/l

0.14

414

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

0.00

0.61

0.0

1.4

—

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

0.00

0.61

0.0

1.4

—

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

0.00

0.61

0.0

1.6

—

(3006504) Eosinophils/100 leukocytes in Blood

306

1.34

0.56

6.9

6.8

2.66

2.74

0.08

286

(3002030) Lymphocytes/100 leukocytes in Blood

317

1.33

0.54

6.7

6.8

25.72

27.86

0.56

299

(3042936) Bacteria identified in Isolate by Culture

1.51

0.53

1.6

1.8

—

(3019069) Monocytes/100 leukocytes in Blood

309

1.32

0.51

7.0

9.14

8.84

0.16

293

(40768804) Tissue Pathology biopsy report

223

1.33

0.49

1.4

2.0

—

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

252

1.32

0.49

2.2

2.4

84.67

80.23

nmol/l

0.31

221

(3018418) pH of Serum or Plasma

189

1.31

0.43

3.4

4.9

7.40

—

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

237

1.29

0.42

1.7

1.9

104.93

94.69

pmol/l

0.67

118

(3044491) Cholesterol non HDL [Mass/volume] in Serum or Plasma

1.55

0.42

1.0

1.5

—

(3023421) Hepatitis B virus surface Ab [Units/volume] in Serum

0.00

0.41

0.0

1.5

—

229.50

—

(3029511) Human papilloma virus DNA [Presence] in Specimen by NAA with probe detection

0.00

0.41

0.0

1.1

—

(44816559) Phosphatidylethanol [Mass/volume] in Blood

0.00

0.41

0.0

1.2

—

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

1.41

0.40

1.4

4.1

—

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

144

1.33

0.40

2.5

2.2

3.21

3.14

mg/l

0.06

125

(3012516) Albumin [Mass/volume] in Urine

173

1.30

0.38

3.1

3.3

27.82

68.31

mg/l

1.05

109

(40760892) CBC W Ordered Manual Differential panel - Blood

308

1.26

0.38

7.5

7.1

—

(3009343) pH of Capillary blood

1.43

0.36

6.2

2.9

—

7.45

—

(3022621) pH of Urine by Test strip

1.39

0.35

7.3

2.1

—

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

0.71

0.33

4.6

7.3

0.87

1.08

mmol/l

—

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

102

1.33

0.32

1.7

2.4

14.40

12.91

umol/l

0.25

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

1.35

0.32

5.7

1.7

74.90

65.54

g/l

—

(3016771) Amylase [Enzymatic activity/volume] in Serum or Plasma

197

1.24

0.31

2.8

2.7

46.91

55.28

u/l

0.81

190

(3018677) aPTT in Platelet poor plasma by Coagulation assay

103

1.32

0.30

1.5

2.5

28.97

30.02

0.31

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

1.33

0.30

1.3

1.2

0.97

8.78

u/ml

—

(36304419) Bacteria [Presence] in Urine

181

0.79

0.29

3.4

2.9

—

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

199

1.22

0.28

4.0

4.4

20.24

22.57

—

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

1.33

0.28

1.5

2.5

24.79

20.74

0.48

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

161

1.24

0.27

1.3

—

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

337

1.19

0.27

7.3

7.4

9.90

11.14

umol/l

0.74

323

(3022145) Colonoscopy Study observation

1.23

0.26

1.3

—

(3019060) Gas panel - Arterial blood

1.38

0.24

5.0

4.6

—

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

1.34

0.24

1.4

1.7

—

(3044889) 12 lead EKG panel

430

1.18

0.23

3.5

3.9

—

(3017732) Neutrophils [#/volume] in Blood

1.23

0.22

2.8

3.0

3.75

3.78

e9/l

—

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

0.00

0.21

0.0

1.8

—

(40768441) Liver Pathology biopsy report

0.00

0.21

0.0

1.0

—

(40768806) Pleura Pathology biopsy report

0.00

0.21

0.0

1.9

—

(3011288) Drugs identified in Urine by Screen method

0.00

0.21

0.0

2.1

—

(3030905) Polymorphonuclear cells [#/volume] in Blood

0.00

0.21

0.0

3.3

—

6.77

—

(3032035) Polymorphonuclear cells/100 leukocytes in Blood

0.00

0.21

0.0

4.8

—

67.67

—

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

1.30

0.21

2.0

2.1

—

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

0.00

0.21

0.0

1.4

—

(1761868) Lipid panel - Serum or Plasma

224

1.17

0.21

3.4

3.0

—

(3016417) Amylase.pancreatic [Enzymatic activity/volume] in Serum or Plasma

1.17

0.19

4.2

3.5

49.50

28.28

u/l

—

(3000991) Gas panel - Venous blood

1.21

0.18

11.7

9.5

—

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

226

1.16

0.18

3.1

—

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

609

1.22

0.18

5.5

5.1

2.55

2.74

mmol/l

1.09

554

(40761535) Cells panel - Urine sediment

1.04

0.09

2.4

3.2

—

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

1.04

0.08

1.8

2.2

20.72

10.76

g/l

—

(40761536) Microorganisms panel - Urine sediment

1.04

0.08

5.5

4.4

—

(21494755) Public health laboratory ask at order entry panel

0.77

0.08

1.2

1.5

—

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

0.79

0.08

3.8

8.0

—

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

1.07

0.08

1.9

1.7

—

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

1.06

0.07

1.8

1.6

—

(3027945) Reticulocytes/100 erythrocytes in Blood

0.84

0.07

2.1

3.1

1.57

1.79

—

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

141

0.91

0.06

3.3

3.2

—

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

170

0.93

0.04

2.8

369.31

6930.48

umol/l

1.03

145

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

148

1.02

0.00

3.3

3.1

0.52

0.84

ug/l

—

(40758558) Short blood count panel - Blood

164

0.97

0.00

4.9

8.5

—

(3002173) Hemoglobin [Mass/volume] in Arterial blood

0.98

0.00

4.3

9.4

118.17

121.26

g/l

—

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

0.00

-0.00

0.0

1.2

—

(3020717) Zinc [Moles/volume] in Serum or Plasma

0.00

-0.00

0.0

1.6

—

32.24

—

(1617658) Protocol used for examination of sentinel lymph nodes

0.00

-0.00

0.0

1.2

—

(3012565) Volume of 24 hour Urine

0.00

-0.00

0.0

2.2

—

2229.00

—

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

0.00

-0.00

0.0

5.4

—

165.96

—

(3045788) Cell count panel - Pleural fluid

0.00

-0.00

0.0

1.2

—

(3036428) Adenosine deaminase [Enzymatic activity/volume] in Pleural fluid

0.00

-0.00

0.0

1.2

—

7.40

—

(40763082) Lactate dehydrogenase [Enzymatic activity/volume] in Pleural fluid by Lactate to pyruvate reaction

0.00

-0.00

0.0

1.3

—

143.13

—

(3012441) Differential panel - Pleural fluid

0.00

-0.00

0.0

1.3

—

(3023709) Somatotropin [Mass/volume] in Serum or Plasma

0.00

-0.00

0.0

4.2

—

0.75

—

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

0.00

-0.00

0.0

1.0

—

(3038177) Helicobacter pylori Ab [Presence] in Serum

0.00

-0.00

0.0

1.0

—

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

0.00

-0.00

0.0

1.9

—

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

0.00

-0.00

0.0

1.5

—

(3017569) Oxygen content in Arterial blood

0.00

-0.00

0.0

11.1

—

(3003265) Liver kidney microsomal Ab [Titer] in Serum by Immunofluorescence

0.00

-0.00

0.0

1.1

—

(3025149) Bordetella pertussis IgA Ab [Units/volume] in Serum

0.00

-0.00

0.0

1.0

—

(3017315) Amylase [Enzymatic activity/volume] in Urine

0.00

-0.00

0.0

1.4

—

410.80

—

(3013005) Retinol [Moles/volume] in Serum or Plasma

0.00

-0.00

0.0

1.7

—

1.77

—

(3011648) Oxygen content in Venous blood

0.00

-0.00

0.0

12.6

—

12.86

—

(3018171) Choriogonadotropin [Units/volume] in Serum or Plasma

0.00

-0.00

0.0

1.2

—

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

0.00

-0.00

0.0

1.2

—

(3035933) Granulocytes/100 leukocytes in Blood

0.00

-0.00

0.0

1.2

—

(3032773) Endomysium IgG Ab [Titer] in Serum

0.00

-0.00

0.0

1.0

—

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

0.00

-0.00

0.0

4.7

—

130.67

—

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

0.00

-0.00

0.0

1.1

—

(3023410) Appearance of Cerebral spinal fluid

0.00

-0.00

0.0

5.6

—

(3003191) Choriogonadotropin (pregnancy test) [Presence] in Serum or Plasma

0.00

-0.00

0.0

1.3

—

(42870365) C reactive protein [Mass/volume] in Blood by High sensitivity method

0.00

-0.00

0.0

2.2

—

(3014271) Vancomycin [Susceptibility]

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

1.1

—

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

0.00

-0.00

0.0

1.1

—

293.43

—

(3004451) EKG impression Narrative

0.00

-0.00

0.0

1.4

—

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

0.00

-0.00

0.0

1.1

—

(43055361) Metamyelocytes/Leukocytes [Pure number fraction] in Blood by Manual count

0.00

-0.00

0.0

3.8

—

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

0.00

-0.00

0.0

1.3

—

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

0.00

-0.00

0.0

1.4

—

Mortality – FinRegistry

↥

This endpoint is excluded (different definition than used in FinnGen).

Relationships between endpoints

↥

Index endpoint: Q17_CONGENITAL_RETINOSCHISIS – Congenital retinoschisis

GWS hits: 5

This endpoint is excluded (different definition than used in FinnGen).

≡ Risteys

R13

FinnGen R12 + FinRegistry

FinnGen R11 + FinRegistry

FinnGen R10 + FinRegistry

FinnGen R10

FinnGen R9

FinnGen R8

FinnGen R7

FinnGen R6

FinnGen R5

FinnGen R4

FinnGen R3

Congenital retinoschisis

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)

All original rules

Similar endpoints

Case counts by codes

Upset plot

Case counts by code for Congenital retinoschisis (Q17_CONGENITAL_RETINOSCHISIS)

Summary Statistics

-FinRegistry-

-FinnGen-

Key figures

-FinnGen-

Age distribution of first events

-FinnGen-

Year distribution of first events

-FinnGen-

Cumulative Incidence Function

CodeWAS

Matched cohort

LabWAS

Mortality – FinRegistry

Relationships between endpoints