Craniosynostosis EXCLUDE syndromes

Q17_CRANIOSYNOSTOSIS

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 not Q17_SYNDROMATA_MALFORMATIONUM_CONGENITAR_PRAECI_FACIEM_AFFIC1	557637
3. Check pre-conditions, main-only, mode, registry filters Registry filters: Hospital discharge: ICD-10 — Q75.0 Hospital discharge: ICD-9 — 7560A Hospital discharge: ICD-8 — 75600 Cause of death: ICD-10 — Q75.0 Cause of death: ICD-9 — 7560A Cause of death: ICD-8 — 75600 2 out of 7 registries used, show all original rules.	81
4. Check minimum number of events None	81
5. Include endpoints None	81
6. Filter based on genotype QC (FinnGen only)	68

Control definitions (FinnGen only)

Controls for this endpoint are individuals that are not cases.

Extra metadata

Level in the ICD hierarchy: 4
First used in FinnGen datafreeze: DF10

NAME	Q17_CRANIOSYNOSTOSIS
CONTROL_EXCLUDE
CONTROL_PRECONDITIONS
CONTROL_CONDITIONS
SEX
INCLUDE
PRE_CONDITIONS
CONDITIONS	!Q17_SYNDROMATA_MALFORMATIONUM_CONGENITAR_PRAECI_FACIEM_AFFIC1
OUTPAT_ICD
OUTPAT_OPER
HD_MAINONLY
HD_ICD_10_ATC
HD_ICD_10	Q750
HD_ICD_9	7560A
HD_ICD_8	75600
HD_ICD_10_EXCL
HD_ICD_9_EXCL
HD_ICD_8_EXCL
COD_MAINONLY
COD_ICD_10	Q750
COD_ICD_9	7560A
COD_ICD_8	75600
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 Craniosynostosis EXCLUDE syndromes 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	2233	737	1495
Only index persons	1589	533	1056
Unadjusted period prevalence (%)
Whole population	0.03	0.02	0.04
Only index persons	0.03	0.02	0.04
Median age at first event (years)
Whole population	0.67	0.74	0.60
Only index persons	0.75	0.84	0.70

-FinnGen-

Key figures

	All	Female	Male
Number of individuals	68	40	28
Unadjusted period prevalence (%)	0.01	0.01	0.01
Median age at first event (years)	0.89	1.14	0.52

-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
75: Matched controls
750

Code

Vocabulary

Description

Odds Ratio

-log₁₀(p)

N matched cases

N matched controls

Q75.00

ICD-10 Finland

Coronary craniosynostosis

+∞

25.5

75600

ICD-8 Finland

Other congenital anomalies of musculoskeletal system, Craniosynostosis (craniosternosis)

+∞

23.1

AA6AD

NOMESCO Finland

Cranial bones CT examination

267.8

20.6

AAK30

NOMESCO Finland

Craniofacial reconstruction in congenital malformations

+∞

18.5

Q75.01

ICD-10 Finland

Sagittal craniosynostoos

+∞

18.5

7560A

ICD-9 Finland

Other congenital musculoskeletal anomalies, Anomalies of skull and face bones[CRANIOSYNOSTOSIS]

+∞

16.2

QA9S1

NOMESCO Finland

Photography of skin or subcutaneous tissue in head or neck, unspecified

+∞

14.0

ZXD10

NOMESCO Finland

Scheduled procedure

5.9

13.3

159

ZXE20

NOMESCO Finland

More than three and less than five hours

6.8

11.6

ZXE00

NOMESCO Finland

One hour or less

4.9

10.5

199

XXA00

NOMESCO Finland

Clinical examination requiring general anaesthesia

30.9

10.2

Q75.0

ICD-10 Finland

Craniosynostosis

+∞

8.5

Q75.08

ICD-10 Finland

Other craniosynostosis

+∞

7.4

ZXE40

NOMESCO Finland

More than seven and less than nine hours

12.6

6.5

AAK20

NOMESCO Finland

Operations for craniosynostosis

+∞

6.3

LabWAS

↥

N Cases

N Controls

-log₁₀(p)

cases

controls

cases

controls

unit

-log₁₀(p)

N cases

N controls

(37019628) Gastrointestinal bacterial pathogens panel - Stool by NAA with probe detection

5.81

2.94

1.1

1.3

—

(3044640) Blood type and Crossmatch panel - Blood

179

2.25

2.82

1.7

3.2

—

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

138

2.22

2.49

1.6

3.3

—

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

251

2.04

2.36

2.2

3.6

—

estimate

—

(3027545) Mycoplasma pneumoniae Ab [Presence] in Serum by Immunoassay

0.00

1.78

0.0

1.3

—

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

224

1.85

1.77

1.7

—

(3009343) pH of Capillary blood

131

1.96

1.74

5.5

10.9

7.41

0.60

110

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

2.86

1.62

5.0

1.6

—

(3022313) Gas panel - Capillary blood

117

1.84

1.34

6.1

10.3

—

(3018387) Mycoplasma pneumoniae IgG Ab [Units/volume] in Serum

0.00

1.19

0.0

1.0

—

19.12

—

(4035726) Immunohistochemistry procedure

2.47

1.16

1.1

2.1

—

(40768797) Stomach Pathology biopsy report

1.99

1.05

1.0

1.5

—

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

2.36

1.05

1.0

1.42

1.65

g/l

—

(3037467) Urinalysis macro (dipstick) panel - Urine

402

0.64

1.04

4.5

4.7

—

(3020874) Milk IgE Ab [Units/volume] in Serum

0.00

1.00

0.0

1.6

—

1.88

—

(3014599) Egg white IgE Ab [Units/volume] in Serum

0.00

1.00

0.0

1.6

—

3.94

—

(3007853) Bacteria identified in Skin by Aerobe culture

1.74

1.00

1.3

1.6

—

(40761511) CBC panel - Blood by Automated count

648

2.20

0.98

9.4

9.3

—

(3014007) Fractional oxyhemoglobin in Arterial blood

2.33

0.96

10.8

25.7

97.08

95.46

—

(3006217) Methemoglobin/Hemoglobin.total in Arterial blood

2.33

0.96

10.8

25.6

0.80

0.68

—

(3028653) Carboxyhemoglobin/Hemoglobin.total in Arterial blood

2.33

0.96

10.8

25.7

1.35

1.07

—

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

174

0.57

0.91

2.4

3.1

2.78

2.45

mg/l

0.43

158

(3025941) Bacteria identified in Stool by Culture

2.08

0.89

1.3

—

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

0.47

0.85

1.4

—

14.37

—

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

0.00

0.80

0.0

12.4

—

61.30

—

(3047007) Chlamydophila sp Ab [Presence] in Serum

0.00

0.80

0.0

1.2

—

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

2.25

0.78

1.0

1.3

0.76

0.92

g/l

—

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

2.25

0.78

1.2

—

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

2.07

0.74

12.2

27.8

24.00

24.06

mmol/l

—

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

1.91

0.70

1.2

1.8

—

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

115

1.50

0.63

2.6

10.3

23.50

23.38

mmol/l

0.08

115

(3002256) Pathology report gross observation

1.64

0.63

1.4

1.2

—

(3015076) Soybean IgE Ab [Units/volume] in Serum

0.00

0.61

0.0

1.3

—

2.03

—

(3009041) Cardiolipin IgG Ab [Units/volume] in Serum by Immunoassay

0.00

0.61

0.0

1.1

—

3.20

—

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

0.00

0.61

0.0

1.4

—

(3011897) Casein IgE Ab [Units/volume] in Serum

0.00

0.61

0.0

1.7

—

3.54

—

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

0.00

0.61

0.0

1.4

—

(3023410) Appearance of Cerebral spinal fluid

0.00

0.60

0.0

5.0

—

(42870588) Differential panel, method unspecified - Blood

275

0.72

0.59

4.6

10.3

—

(3001684) Respiratory syncytial virus Ag [Presence] in Specimen

0.00

0.59

0.0

1.2

—

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

1.58

0.54

1.8

2.0

—

(3021589) Normoblasts [#/volume] in Blood

363

0.75

0.53

9.5

11.3

0.00

e9/l

-0.00

281

(3032080) INR in Blood by Coagulation assay

156

1.38

0.52

7.0

6.9

1.06

1.13

inr

1.10

131

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

1.61

0.50

3.9

1.3

—

(3024561) Albumin [Mass/volume] in Serum or Plasma

206

0.72

0.50

7.9

10.4

38.11

37.30

g/l

0.36

201

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

423

1.30

0.45

9.5

7.6

106.65

101.86

ml/min/173m2

0.91

360

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

1.48

0.44

1.5

7.8

76.75

90.77

—

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

115

1.38

0.43

3.1

2.5

11.20

33.22

ng/l

—

(1001926) Buprenorphine [Presence] in Urine by Screen method

1.40

0.42

1.8

1.7

—

(1761868) Lipid panel - Serum or Plasma

199

1.30

0.42

2.3

—

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

0.00

0.41

0.0

1.6

—

(3016018) Differential panel - Cerebral spinal fluid

0.00

0.41

0.0

4.1

—

(3020393) Adenovirus Ag [Presence] in Stool

0.00

0.41

0.0

2.3

—

(3030692) Respiratory virus DNA+RNA [Identifier] in Specimen by NAA with probe detection

0.00

0.41

0.0

2.1

—

(3000570) Elastase.pancreatic [Mass/mass] in Stool

0.00

0.41

0.0

1.5

—

367.25

—

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

0.00

0.40

0.0

13.2

—

0.34

—

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

0.00

0.40

0.0

1.0

—

(3044355) Beta 2 glycoprotein 1 IgG Ab [Units/volume] in Serum or Plasma by Immunoassay

0.00

0.40

0.0

1.1

—

1.56

—

(3017044) Thyrotropin receptor Ab [Units/volume] in Serum

0.00

0.40

0.0

2.2

—

3.15

—

(3025018) Bordetella pertussis Ab [Titer] in Serum

0.00

0.39

0.0

1.2

—

(3032773) Endomysium IgG Ab [Titer] in Serum

0.00

0.39

0.0

1.3

—

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

423

0.79

0.39

3.7

12.5

3.96

3.77

e9/l

0.24

360

(3003338) MCHC [Entitic Mass/volume] in Red Blood Cells

633

0.74

0.39

11.2

17.3

334.65

335.22

g/l

0.18

633

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

177

0.74

0.39

2.1

1.9

—

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

233

1.25

0.34

1.4

1.8

2.02

1.78

g/l

0.34

125

(3019832) Treponema pallidum Ab [Presence] in Serum

163

0.76

0.34

2.1

1.9

—

(3000991) Gas panel - Venous blood

120

1.31

0.33

7.1

14.2

—

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

111

1.32

0.33

1.5

2.6

—

(3045414) Leukocytes [Presence] in Urine

1.41

0.32

4.7

1.8

—

0.00

estimate

—

(3011288) Drugs identified in Urine by Screen method Nominal

1.38

0.32

1.9

2.0

—

(3027944) Amphetamines [Presence] in Urine

1.38

0.32

1.6

1.7

—

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

547

1.27

0.31

3.8

4.4

1.78

1.92

mu/l

0.46

524

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

192

0.79

0.30

2.8

2.3

—

(3027008) Opiates [Presence] in Urine

1.36

0.30

1.6

—

(3028300) Cannabinoids [Presence] in Urine

1.36

0.30

1.6

1.7

—

(3000494) Fungus identified in Specimen by Culture

0.66

0.27

1.8

1.6

—

(3016879) Cocaine [Presence] in Urine

1.28

0.27

1.7

—

(3000764) Benzodiazepines [Presence] in Urine

1.23

0.26

1.7

—

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

1.31

0.26

1.5

2.2

—

(3033319) Streptococcus pyogenes Ag [Presence] in Throat

198

0.82

0.24

2.0

—

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

124

0.78

0.24

1.7

1.6

—

(3015736) pH of Urine

279

0.84

0.23

3.4

6.60

6.50

0.18

134

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

1.27

0.23

1.4

985.42

1166.72

nmol/l

—

(3002179) Metamyelocytes/Leukocytes in Blood

1.27

0.23

3.4

8.7

—

0.87

—

(3021440) Promyelocytes/Leukocytes in Blood

1.20

0.22

3.4

8.7

—

0.00

—

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

1.20

0.22

6.0

3.9

—

(36660697) Celiac disease serology panel - Serum

113

0.77

0.22

1.6

1.2

—

(3012544) pH of Venous blood

127

1.23

0.21

2.5

11.7

7.37

—

(3001788) Aldosterone [Moles/volume] in Serum or Plasma

0.00

0.21

0.0

1.6

—

232.91

—

(3011985) Renin [Units/volume] in Plasma

0.00

0.21

0.0

1.6

—

42.24

—

(3008295) Osmolality of Serum or Plasma

0.00

0.21

0.0

1.1

—

293.17

—

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

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

1.2

—

(3046896) Herpes virus 6 DNA [Presence] in Cerebral spinal fluid by NAA with probe detection

0.00

0.21

0.0

1.0

—

(3020629) Protein S Free Ag actual/normal in Platelet poor plasma by Immunoassay

0.00

0.21

0.0

1.0

—

88.73

—

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

0.00

0.21

0.0

5.3

—

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

0.00

0.21

0.0

1.0

—

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

0.00

0.21

0.0

1.1

—

128.45

—

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

0.00

0.21

0.0

1.2

—

(3000093) Morphology [Interpretation] in Blood Narrative

0.00

0.21

0.0

1.3

—

(3003181) Sodium [Moles/volume] in Urine

0.00

0.21

0.0

1.6

—

77.29

—

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

0.00

0.21

0.0

1.6

—

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

0.00

0.21

0.0

1.1

—

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

0.00

0.21

0.0

1.6

—

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

0.00

0.21

0.0

1.6

—

(42528717) Cashew nut recombinant (rAna o) 3 IgE Ab [Units/volume] in Serum

0.00

0.21

0.0

1.5

—

4.30

—

(3016894) Varicella zoster virus DNA [Presence] in Cerebral spinal fluid by NAA with probe detection

0.00

0.21

0.0

1.1

—

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

0.00

0.21

0.0

5.8

—

3.09

—

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

0.00

0.21

0.0

1.3

—

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

0.00

0.21

0.0

15.7

—

875.92

—

(3004959) Base excess in Arterial cord blood by calculation

1.27

0.21

1.0

—

-2.49

—

(3041008) Bicarbonate [Moles/volume] standard in Arterial cord blood

1.27

0.21

1.0

19.00

19.13

mmol/l

—

(3006598) pH of Arterial cord blood

1.27

0.21

1.0

—

(3027231) Wheat IgE Ab [Units/volume] in Serum

0.00

0.20

0.0

1.3

—

4.10

—

(3011841) English Walnut IgE Ab [Units/volume] in Serum

0.00

0.20

0.0

1.3

—

13.14

—

(4195642) Thrombophilia screening test

0.00

0.20

0.0

1.0

—

(4268621) Lupus anticoagulant assay

0.00

0.20

0.0

2.1

—

(3008733) Herpes simplex virus DNA [Presence] in Cerebral spinal fluid by NAA with probe detection

0.00

0.20

0.0

1.1

—

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

0.00

0.20

0.0

16.0

—

1590.93

—

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

1.16

0.18

2.9

1.9

—

(3018095) Leukocytes [#/volume] in Urine

253

0.87

0.17

3.7

5.8

111.32

29.84

e6/l

0.53

175

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

1.12

0.16

1.0

1.1

—

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

0.80

0.15

5.3

8.1

4.17

5.05

umol/l

—

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

250

1.13

0.13

1.6

0.44

1.98

u/ml

—

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

199

0.87

0.13

3.8

4.6

30.31

34.70

u/l

0.39

194

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

330

1.11

0.13

2.8

3.8

47.26

57.88

ug/l

0.84

321

(3048689) Calprotectin [Mass/mass] in Stool

135

1.14

0.10

2.4

3.5

55.89

71.68

ug/g

—

105

(3008898) HLA-B27 [Presence]

1.17

0.10

1.0

1.1

—

(3025159) Blasts/Leukocytes in Blood

1.12

0.10

3.4

8.4

—

0.00

—

(3017181) Myelocytes/Leukocytes in Blood

1.12

0.10

3.4

8.4

—

0.53

—

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

377

0.91

0.10

4.3

4.4

—

255.80

—

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

484

1.10

0.09

3.7

14.62

14.48

pmol/l

0.14

452

(40758558) Short blood count panel - Blood

235

0.91

0.09

2.7

7.9

—

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

1.12

0.08

10.1

16.7

107.57

105.21

mmol/l

—

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

285

0.92

0.08

2.0

1.9

—

(3000492) Spirometry study

1.07

0.08

1.0

1.4

—

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

652

0.87

0.08

10.8

12.8

17.03

22.20

mg/l

0.87

487

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

204

0.91

0.08

2.8

2.4

—

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

0.84

0.08

1.5

2.1

—

(3017446) Testosterone [Moles/volume] in Serum or Plasma

0.82

0.08

3.0

2.2

14.50

14.14

nmol/l

—

(3023368) Bacteria identified in Blood by Culture

128

1.12

0.07

3.9

—

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

100

0.89

0.07

1.7

5.6

265.67

311.96

umol/l

—

(3002582) Erythrocytes [#/volume] in Urine

212

0.92

0.06

3.0

4.7

185.07

35.25

e6/l

0.47

169

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

611

0.91

0.06

3.7

4.0

—

(40760892) CBC W Ordered Manual Differential panel - Blood

150

0.92

0.05

3.0

7.2

—

(36304419) Bacteria [Presence] in Urine

180

1.07

0.04

3.1

4.7

—

estimate

—

(3019150) Specific gravity of Urine by Refractometry

161

1.07

0.03

2.7

3.2

1.02

kg/l

0.27

106

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

169

0.93

0.03

1.4

1.7

120.74

94.04

pmol/l

—

(40768804) Tissue Pathology biopsy report

171

1.07

0.03

1.5

1.8

—

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

181

1.07

0.03

3.1

4.8

0.47

0.33

e6/l

0.27

138

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

218

0.95

0.02

2.2

2.3

—

(3044889) 12 lead EKG panel

298

0.96

0.02

3.7

2.5

—

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

214

1.04

0.00

3.1

5.0

—

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

122

0.98

0.00

6.3

14.1

1.37

1.38

mmol/l

0.03

117

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

195

0.97

0.00

2.9

3.8

—

(3013512) EKG study

1.06

0.00

3.4

3.3

—

(3018418) pH of Serum or Plasma

121

0.99

0.00

2.3

3.6

7.40

7.38

—

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

104

0.96

0.00

1.3

1.6

—

(3003191) Choriogonadotropin [Presence] in Serum or Plasma

0.90

0.00

1.2

1.7

—

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

1.02

0.00

1.4

2.0

—

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

0.93

0.00

2.5

1.7

—

(40761849) Varicella zoster virus IgG Ab [Units/volume] in Cerebral spinal fluid by Immunoassay

0.00

-0.00

0.0

1.2

—

(3003101) Alpha 1 antitrypsin [Mass/mass] in Stool

0.00

-0.00

0.0

2.6

—

100.80

—

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

0.00

-0.00

0.0

3.4

—

6.46

—

(3041672) Baker's yeast Ab [Presence] in Serum

0.00

-0.00

0.0

1.2

—

(3009340) Metanephrine [Moles/volume] in Serum or Plasma

0.00

-0.00

0.0

1.4

—

(3021578) Parainfluenza virus 2 Ag [Presence] in Specimen

0.00

-0.00

0.0

1.0

—

(3015183) Erythrocyte sedimentation rate [Velocity] in Red Blood Cells

0.00

-0.00

0.0

1.2

—

10.83

—

(3014702) Chromogranin A [Moles/volume] in Serum or Plasma

0.00

-0.00

0.0

2.8

—

2.02

—

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

0.00

-0.00

0.0

1.3

—

120.57

—

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

0.00

-0.00

0.0

1.0

—

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

0.00

-0.00

0.0

5.0

—

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

0.00

-0.00

0.0

13.2

—

6.78

—

(3029080) Hemoglobin [Entitic mass] in Reticulocytes

0.00

-0.00

0.0

1.3

—

33.57

—

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

0.00

-0.00

0.0

1.3

—

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

0.00

-0.00

0.0

1.0

—

(3023150) Myeloperoxidase Ab [Units/volume] in Serum

0.00

-0.00

0.0

1.0

—

(3044212) Herpes simplex virus 1+2 IgM Ab [Presence] in Cerebral spinal fluid

0.00

-0.00

0.0

1.4

—

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

130

1.00

-0.00

2.9

4.2

6.38

0.80

e6/l

—

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

0.00

-0.00

0.0

3.0

—

13.50

—

(40759040) C peptide [Moles/volume] in Serum or Plasma --post meal

0.00

-0.00

0.0

1.2

—

1.30

—

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

0.00

-0.00

0.0

2.5

—

1.14

—

(3026008) Bacteria identified in Urine by Culture

160

1.00

-0.00

2.2

2.6

—

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

0.00

-0.00

0.0

1.0

—

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

0.00

-0.00

0.0

1.6

—

(3002823) Mycoplasma pneumoniae IgG Ab [Units/volume] in Cerebral spinal fluid

0.00

-0.00

0.0

1.0

—

(3044941) Cell count panel - Synovial fluid

0.00

-0.00

0.0

1.2

—

(4198724) Urine methamphetamine measurement

0.00

-0.00

0.0

1.9

—

(3022756) Ceruloplasmin [Mass/volume] in Serum or Plasma

0.00

-0.00

0.0

1.0

—

314.40

—

(3023659) Complement C1 esterase inhibitor.functional/Complement C1 esterase inhibitor.total in Serum or Plasma

0.00

-0.00

0.0

1.0

—

107.00

—

(3019897) Erythrocyte [DistWidth] in Red Blood Cells by Automated count

0.00

-0.00

0.0

1.5

—

13.43

—

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

0.00

-0.00

0.0

1.0

—

0.46

—

(40765096) Chromosome analysis panel by Banding

0.00

-0.00

0.0

1.5

—

(3051651) Icteric interference index of Serum or Plasma

0.00

-0.00

0.0

1.5

—

0.75

—

(3011363) Streptococcus pneumoniae Ag [Presence] in Urine

0.00

-0.00

0.0

1.0

—

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

100

1.00

-0.00

1.4

2.3

—

(3034603) RHD gene allele [Genotype] in Blood or Tissue by Molecular genetics method Nominal

0.00

-0.00

0.0

1.5

—

(3029075) Extractable nuclear Ab panel - Serum

0.00

-0.00

0.0

1.2

—

(3042936) Bacteria identified in Isolate by Culture

0.93

-0.00

2.4

3.1

—

(4281824) Cell count and differential, peritoneal fluid

0.00

-0.00

0.0

1.0

—

(21494429) FMR1 gene CGG repeat analysis in Blood or Tissue by Molecular genetics method

0.00

-0.00

0.0

1.0

—

(21494434) Karyotype in Bone marrow

0.00

-0.00

0.0

2.1

—

(3009410) PHENobarbital [Moles/volume] in Serum or Plasma

0.00

-0.00

0.0

9.4

—

113.60

—

(40768446) Kidney Pathology biopsy report

0.00

-0.00

0.0

2.4

—

(42868421) Varicella zoster virus IgM Ab [Presence] in Cerebral spinal fluid by Immunoassay

0.00

-0.00

0.0

1.2

—

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

0.00

-0.00

0.0

1.4

—

(3010464) Parainfluenza virus 1 Ag [Presence] in Specimen

0.00

-0.00

0.0

1.0

—

(3004588) Protein electrophoresis panel - Serum or Plasma

0.00

-0.00

0.0

2.1

—

(3051611) Lipemic interference index of Serum or Plasma

0.00

-0.00

0.0

1.5

—

10.75

—

(40766800) Mycobacterium tuberculosis stimulated gamma interferon release by CD4+ T-cells [Units/volume] corrected for background in Blood

0.00

-0.00

0.0

1.0

—

(3042111) Morphology [Interpretation] in Bone marrow Narrative

0.00

-0.00

0.0

4.3

—

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

0.00

-0.00

0.0

1.3

—

(3037677) Mycoplasma pneumoniae IgM Ab [Titer] in Cerebral spinal fluid

0.00

-0.00

0.0

1.0

—

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

0.00

-0.00

0.0

1.4

—

(3030408) 3-Methoxytyramine [Moles/volume] in Serum or Plasma

0.00

-0.00

0.0

1.8

—

(3016038) Potassium [Moles/volume] in Urine

0.00

-0.00

0.0

1.8

—

31.25

—

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

0.00

-0.00

0.0

1.3

—

1.36

—

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

0.00

-0.00

0.0

1.4

—

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

0.00

-0.00

0.0

2.4

—

4.80

—

(3013336) Amino acids [Identifier] in Serum or Plasma

0.00

-0.00

0.0

1.5

—

(3005880) Parainfluenza virus 3 Ag [Presence] in Specimen

0.00

-0.00

0.0

1.0

—

(3036071) Salmonella sp Ab [Titer] in Serum

0.00

-0.00

0.0

1.3

—

(3005082) Progesterone [Moles/volume] in Serum or Plasma

0.00

-0.00

0.0

1.0

—

32.46

—

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

0.00

-0.00

0.0

2.4

—

18.20

—

(21491979) Prolactin monomeric [Units/volume] in Serum or Plasma

0.00

-0.00

0.0

1.2

—

210.60

—

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

0.00

-0.00

0.0

1.7

—

(40768793) Breast Pathology biopsy report

0.00

-0.00

0.0

1.3

—

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

0.00

-0.00

0.0

3.2

—

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

0.00

-0.00

0.0

2.3

—

(3026048) Bordetella pertussis IgG Ab [Units/volume] in Serum

0.00

-0.00

0.0

1.0

—

21.51

—

(3039443) Prostate specific Ag panel - Serum or Plasma

0.00

-0.00

0.0

1.4

—

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

0.00

-0.00

0.0

1.6

—

(3026179) Normetanephrine [Moles/volume] in Serum or Plasma

0.00

-0.00

0.0

1.8

—

0.51

—

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

0.00

-0.00

0.0

1.6

—

(44816893) Food Allergen Mix 50 (Kiwi+Pineapple+Banana+Mango) IgE Ab [Units/volume] in Serum by Multidisk

0.00

-0.00

0.0

1.0

—

2.05

—

(3019083) Insulin-like growth factor [Moles/volume] in Serum or Plasma

0.00

-0.00

0.0

2.4

—

(21494755) Public health laboratory ask at order entry panel

0.98

-0.00

1.4

1.2

—

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

0.00

-0.00

0.0

1.4

—

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

0.00

-0.00

0.0

1.2

—

0.80

—

(3036603) Volume of Urine

0.00

-0.00

0.0

1.7

—

1462.14

—

(3001964) Herpes simplex virus Ag [Presence] in Specimen

0.00

-0.00

0.0

3.8

—

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

0.00

-0.00

0.0

1.4

—

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

0.00

-0.00

0.0

1.2

—

(3031309) Prolactin monomeric/Prolactin.total in Serum or Plasma

0.00

-0.00

0.0

1.2

—

77.20

—

Mortality – FinRegistry

↥

Association

Association between endpoint Q17_CRANIOSYNOSTOSIS and mortality.

Females

No data

Males

No data

Mortality risk

Mortality risk for people of age

years, who have Q17_CRANIOSYNOSTOSIS.

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_CRANIOSYNOSTOSIS – Craniosynostosis EXCLUDE syndromes

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

Craniosynostosis EXCLUDE syndromes

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