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	519972
1. Apply sex-specific rule None	519972
2. Check conditions not Q17_SYNDROMATA_MALFORMATIONUM_CONGENITAR_PRAECI_FACIEM_AFFIC1	519866
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.	75
4. Check minimum number of events None	75
5. Include endpoints None	75
6. Filter based on genotype QC (FinnGen only)	69

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:

No upset plot: unknown.

No upset table: unknown.

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	69	39	30
Unadjusted period prevalence (%)	0.01	0.01	0.01
Median age at first event (years)	0.90	1.18	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

5.8

13.2

160

ZXE20

NOMESCO Finland

More than three and less than five hours

6.7

11.3

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

9.49

3.86

1.1

1.4

—

(3044640) Blood type and Crossmatch panel - Blood

153

2.19

2.53

1.6

3.3

—

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

120

2.18

2.23

1.4

3.5

—

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

203

2.01

2.18

1.7

1.6

—

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

3.25

1.85

5.0

1.5

—

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

231

1.86

1.83

1.9

3.4

—

(3010521) Mycoplasma pneumoniae IgM Ab [Presence] in Serum by Immunoassay

0.00

1.58

0.0

1.2

—

(40761511) CBC panel - Blood by Automated count

630

2.66

1.55

7.7

8.6

—

(4035726) Immunohistochemistry procedure

2.56

1.43

1.1

2.0

—

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

0.00

1.39

0.0

1.4

—

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

3.07

1.38

6.4

60.6

—

(3022313) Gas panel - Capillary blood

117

1.84

1.34

6.1

10.2

—

(3028653) Carboxyhemoglobin/Hemoglobin.total in Arterial blood

2.60

1.17

9.2

29.9

1.40

1.24

—

(3014007) Fractional oxyhemoglobin in Arterial blood

2.60

1.17

9.2

29.8

96.70

94.57

—

(44816559) Phosphatidylethanol [Mass/volume] in Blood

2.60

1.17

1.2

—

(3006217) Methemoglobin/Hemoglobin.total in Arterial blood

2.48

1.11

9.2

28.5

0.92

0.72

—

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

377

1.57

1.06

6.1

6.7

104.62

102.64

ml/min/173m2

0.25

269

(3045414) Leukocytes [Presence] in Urine

2.36

1.05

2.6

1.7

—

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

0.00

1.00

0.0

1.5

—

1.97

—

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

0.00

1.00

0.0

1.6

—

4.22

—

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

0.00

0.99

0.0

1.1

—

(3037467) Urinalysis macro (dipstick) panel - Urine

372

0.68

0.84

3.6

4.4

—

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

0.00

0.79

0.0

1.1

—

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

2.25

0.78

1.2

—

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

1.99

0.72

1.0

1.8

—

(3007853) Bacteria identified in Skin by Aerobe culture

1.62

0.72

1.2

1.5

—

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

152

0.61

0.70

2.3

3.0

2.72

2.61

mg/l

—

135

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

212

1.43

0.69

1.3

1.7

2.03

1.80

g/l

0.31

108

(3025941) Bacteria identified in Stool by Culture

1.84

0.67

1.4

—

(40768797) Stomach Pathology biopsy report

1.65

0.67

1.0

1.5

—

(3011288) Drugs identified in Urine by Screen method

1.65

0.67

1.7

—

(3022217) INR in Platelet poor plasma by Coagulation assay

140

1.48

0.67

4.3

7.1

1.08

1.11

inr

—

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

1.64

0.66

1.1

1.5

—

(3022621) pH of Urine by Test strip

1.77

0.65

1.8

2.3

—

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

0.00

0.61

0.0

1.5

—

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

0.00

0.61

0.0

1.3

—

2.03

—

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

0.00

0.61

0.0

1.9

—

(3041096) Erythrocytes [Presence] in Urine by Automated

123

0.61

2.8

3.0

—

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

0.00

0.61

0.0

1.4

—

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

0.00

0.61

0.0

1.4

—

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

0.00

0.61

0.0

2.1

—

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

0.00

0.60

0.0

11.4

—

59.02

—

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

0.00

0.60

0.0

1.0

—

(3023410) Appearance of Cerebral spinal fluid

0.00

0.60

0.0

4.7

—

(1175715) Chlamydophila pneumoniae IgM Ab [Presence] in Serum by Immunoassay

0.00

0.59

0.0

1.2

—

(3047007) Chlamydophila sp Ab [Presence] in Serum

0.00

0.59

0.0

1.2

—

(3027944) Amphetamines [Presence] in Urine

1.49

0.55

1.2

1.5

—

(3028300) Cannabinoids [Presence] in Urine

1.46

0.54

1.2

1.5

—

(3027008) Opiates [Presence] in Urine

1.46

0.54

1.2

1.5

—

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

222

1.34

0.51

1.4

1.5

0.44

2.20

u/ml

—

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

1.61

0.50

3.6

1.3

—

(3002256) Pathology report gross observation

1.50

0.48

1.4

1.2

—

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

1.50

0.48

6.0

16.6

106.57

105.04

mmol/l

—

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

1.47

0.47

1.3

1.6

—

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

505

1.33

0.45

3.3

3.8

1.81

1.93

mu/l

0.33

480

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

105

1.41

0.45

2.2

9.2

23.29

23.31

mmol/l

0.01

105

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

1.41

0.43

1.5

2.1

—

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

1.55

0.42

1.4

1.7

—

(40760892) CBC W Ordered Manual Differential panel - Blood

345

0.78

0.42

3.7

9.6

—

(3016879) Cocaine [Presence] in Urine

1.37

0.42

1.3

1.5

—

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

0.00

0.41

0.0

2.0

—

3.70

—

(3016018) Differential panel - Cerebral spinal fluid

0.00

0.41

0.0

3.6

—

(3032773) Endomysium IgG Ab [Titer] in Serum

0.00

0.41

0.0

1.2

—

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

0.00

0.41

0.0

1.6

—

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

0.00

0.41

0.0

1.3

—

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

0.00

0.41

0.0

1.5

—

347.71

—

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

0.00

0.41

0.0

2.1

—

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

0.00

0.41

0.0

1.1

—

1.63

—

(3025018) Bordetella pertussis Ab [Titer] in Serum

0.00

0.41

0.0

1.3

—

(3045462) Protein/Creatinine [Ratio] in Urine

0.00

0.41

0.0

14.9

—

197.47

—

(3020393) Adenovirus Ag [Presence] in Stool

0.00

0.41

0.0

2.3

—

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

0.00

0.41

0.0

1.0

—

(3004915) Chlamydophila pneumoniae IgA Ab [Units/volume] in Serum

0.00

0.41

0.0

1.2

—

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

189

0.74

0.41

2.5

3.3

—

(3026782) Osmolality of Urine

114

0.67

0.41

2.6

3.3

631.50

584.21

mosm/kgh2o

—

(3002434) Lupus erythematosus deoxynucleoproteins IgG Ab [Units/volume] in Serum by Immunoassay

0.00

0.40

0.0

1.7

—

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

0.00

0.40

0.0

1.1

—

3.44

—

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

0.00

0.40

0.0

13.2

—

0.34

—

(3027450) Sjogrens syndrome-B extractable nuclear Ab [Units/volume] in Serum

0.00

0.39

0.0

1.3

—

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

0.00

0.39

0.0

1.7

—

3.36

—

(3013512) EKG study

1.35

0.39

2.2

3.8

—

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

165

0.74

0.37

1.9

1.8

—

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

100

1.36

0.36

2.2

2.5

13.67

37.08

ng/l

—

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

400

0.81

0.35

3.1

11.1

3.98

3.83

e9/l

0.18

344

(3000991) Gas panel - Venous blood

110

1.34

0.35

5.4

13.9

—

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

611

0.78

0.32

3.7

3.9

—

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

1.38

0.32

1.4

7.9

69.00

88.77

—

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

172

0.77

0.31

2.7

2.2

—

(3000764) Benzodiazepines [Presence] in Urine

1.28

0.28

1.3

1.5

—

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

1.24

0.28

1.0

1.1

—

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

0.73

0.25

3.0

7.7

4.70

5.22

umol/l

—

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

1.27

0.23

1.4

985.42

1166.72

nmol/l

—

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

1.20

0.22

6.0

3.9

—

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

111

0.79

0.22

1.8

1.5

—

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

0.00

0.21

0.0

1.6

—

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

0.00

0.21

0.0

1.6

—

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

0.00

0.21

0.0

1.0

—

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

0.00

0.21

0.0

1.6

—

(3030429) Borrelia sp DNA [Identifier] in Specimen 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

—

88.40

—

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

0.00

0.21

0.0

5.1

—

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

0.00

0.21

0.0

1.3

—

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

0.00

0.21

0.0

1.0

—

(3026250) Tacrolimus [Mass/volume] in Blood

0.00

0.21

0.0

64.6

—

6.61

—

(3000208) Alpha tocopherol [Moles/volume] in Serum or Plasma

0.00

0.21

0.0

5.2

—

28.80

—

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

0.00

0.21

0.0

1.1

—

128.45

—

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

0.00

0.21

0.0

1.0

—

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

0.00

0.21

0.0

13.8

—

881.42

—

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

0.00

0.21

0.0

6.0

—

3.28

—

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

0.00

0.21

0.0

14.9

—

1704.83

—

(3003181) Sodium [Moles/volume] in Urine

0.00

0.21

0.0

1.6

—

77.29

—

(46235689) Lupus anticoagulant aPTT, dRVVT and PT screening panel W Reflex

0.00

0.21

0.0

2.1

—

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

432

1.17

0.21

3.3

14.45

14.37

pmol/l

0.07

399

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

0.00

0.21

0.0

1.1

—

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

0.00

0.21

0.0

1.1

—

(3039162) Centromere protein B Ab [Units/volume] in Serum

0.00

0.21

0.0

1.2

—

(3006598) pH of Arterial cord blood

1.27

0.21

1.0

—

(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

—

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

0.00

0.20

0.0

1.3

—

4.10

—

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

0.00

0.20

0.0

1.6

—

(3018095) Leukocytes [#/volume] in Urine

215

0.84

0.20

3.2

5.6

117.25

28.19

e6/l

0.53

152

(3000492) Spirometry study

1.25

0.19

1.0

1.4

—

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

1.18

0.18

2.7

1.8

—

(3019832) Treponema pallidum Ab [Presence] in Serum

141

0.82

0.18

2.0

1.7

—

(3042936) Bacteria identified in Isolate by Culture

0.73

0.18

1.4

3.2

—

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

0.82

0.14

1.4

1.5

—

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

200

0.87

0.14

2.3

2.1

—

(3044889) 12 lead EKG panel

259

1.13

0.14

2.6

2.3

—

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

163

1.14

0.12

2.3

3.6

—

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

288

0.90

0.11

2.4

3.2

45.52

57.16

ug/l

0.74

273

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

1.04

0.08

1.2

—

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

0.82

0.08

2.6

2.1

10.98

14.72

nmol/l

—

(3000494) Fungus identified in Specimen by Culture

0.78

0.08

1.8

1.7

—

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

0.78

0.08

1.2

2.0

—

(40758558) Short blood count panel - Blood

204

0.91

0.08

2.0

8.8

—

(1761868) Lipid panel - Serum or Plasma

157

1.11

0.08

2.1

2.0

—

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

256

1.09

0.07

1.9

1.8

—

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

1.08

0.07

1.3

1.8

—

(36660697) Celiac disease serology panel - Serum

104

0.85

0.07

1.6

1.2

—

(40768804) Tissue Pathology biopsy report

160

1.08

0.04

1.3

1.8

—

(3023368) Bacteria identified in Blood by Culture

111

1.10

0.04

2.5

4.1

—

(36304419) Bacteria [Presence] in Urine

168

0.94

0.02

2.9

4.5

—

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

134

1.06

0.01

1.4

1.5

120.27

94.45

pmol/l

—

(3026008) Bacteria identified in Urine by Culture

147

1.03

0.00

1.8

2.6

—

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

195

0.97

0.00

2.9

4.8

—

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

114

0.96

0.00

2.5

4.1

7.18

0.68

e6/l

—

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

621

0.99

0.00

8.4

11.6

16.74

22.35

mg/l

1.01

442

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

184

0.97

0.00

2.6

2.3

—

(3039443) Prostate specific Ag panel - Serum or Plasma

0.00

0.0

1.4

—

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

0.00

0.0

2.3

—

(3051611) Lipemic interference index of Serum or Plasma

0.00

0.0

1.5

—

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

0.00

0.0

1.1

—

(3036180) Methadone [Presence] in Urine

0.00

0.0

1.9

—

(21494434) Karyotype in Bone marrow

0.00

0.0

1.9

—

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

0.00

0.0

1.3

—

(3016038) Potassium [Moles/volume] in Urine

0.00

0.0

1.8

—

31.25

—

(3051651) Icteric interference index of Serum or Plasma

0.00

0.0

1.5

—

(3036071) Salmonella sp Ab [Titer] in Serum

0.00

0.0

1.3

—

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

0.00

-0.00

0.0

1.0

—

(3000093) Morphology [Interpretation] in Blood Narrative

0.00

-0.00

0.0

1.3

—

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

0.00

-0.00

0.0

1.0

—

1926.50

—

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

0.00

-0.00

0.0

3.2

—

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

0.00

-0.00

0.0

5.7

—

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

0.00

-0.00

0.0

1.4

—

221.89

—

(3004588) Protein electrophoresis panel - Serum or Plasma

0.00

-0.00

0.0

1.8

—

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

0.00

-0.00

0.0

9.4

—

113.60

—

(3011985) Renin [Units/volume] in Plasma

0.00

-0.00

0.0

1.4

—

40.98

—

(3025547) Thyroglobulin Ab [Units/volume] in Serum or Plasma

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

1.5

—

(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

—

(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

—

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

0.00

-0.00

0.0

1.3

—

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

0.00

-0.00

0.0

1.3

—

(3009871) Measles virus Ab [Titer] in Serum

0.00

-0.00

0.0

1.8

—

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

0.00

-0.00

0.0

5.4

—

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

0.00

-0.00

0.0

1.6

—

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

0.00

-0.00

0.0

2.1

—

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

0.00

-0.00

0.0

1.1

—

(3029075) Extractable nuclear Ab panel - Serum

0.00

-0.00

0.0

1.2

—

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

0.00

-0.00

0.0

1.0

—

(3033319) Streptococcus pyogenes Ag [Presence] in Throat

160

1.00

-0.00

1.8

2.0

—

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

0.00

-0.00

0.0

1.9

—

11.07

—

(40768793) Breast Pathology biopsy report

0.00

-0.00

0.0

1.3

—

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

0.00

-0.00

0.0

1.2

—

(21494755) Public health laboratory ask at order entry panel

1.00

-0.00

1.3

1.2

—

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

0.00

-0.00

0.0

1.3

—

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

0.00

-0.00

0.0

3.8

—

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

0.00

-0.00

0.0

1.0

—

(40768446) Kidney Pathology biopsy report

0.00

-0.00

0.0

2.3

—

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

0.96

-0.00

1.1

5.2

277.00

311.20

umol/l

—

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

0.00

-0.00

0.0

2.2

—

82.00

—

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

0.00

-0.00

0.0

1.5

—

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

0.00

-0.00

0.0

1.4

—

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

0.00

-0.00

0.0

1.1

—

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

0.00

-0.00

0.0

1.0

—

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

0.00

-0.00

0.0

1.1

—

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

0.00

-0.00

0.0

1.3

—

1.36

—

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

0.00

-0.00

0.0

3.0

—

1.15

—

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

0.00

-0.00

0.0

1.9

—

1.13

—

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

0.00

-0.00

0.0

1.0

—

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

0.00

-0.00

0.0

1.0

—

32.46

—

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

1.00

-0.00

1.1

2.2

—

(3000012) Reticulocyte production index

0.00

-0.00

0.0

1.2

—

(3019897) Erythrocyte distribution width [Ratio] by Automated count

0.00

-0.00

0.0

1.7

—

13.40

—

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

0.00

-0.00

0.0

1.2

—

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

0.00

-0.00

0.0

3.0

—

13.50

—

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

0.00

-0.00

0.0

1.2

—

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

0.00

-0.00

0.0

12.8

—

7.70

—

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

0.00

-0.00

0.0

1.0

—

(4281824) Cell count and differential, peritoneal fluid

0.00

-0.00

0.0

1.0

—

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

0.00

-0.00

0.0

1.0

—

(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

—

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

0.00

-0.00

0.0

1.1

—

(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

—

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

0.00

-0.00

0.0

1.2

—

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

0.00

-0.00

0.0

3.4

—

6.46

—

(3042111) Morphology [Interpretation] in Bone marrow Narrative

0.00

-0.00

0.0

2.2

—

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

0.00

-0.00

0.0

1.7

—

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

0.00

-0.00

0.0

1.5

—

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

0.00

-0.00

0.0

1.0

—

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

0.00

-0.00

0.0

2.0

—

18.20

—

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

0.89

-0.00

2.6

1.6

—

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

0.00

-0.00

0.0

1.0

—

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

0.00

-0.00

0.0

1.0

—

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

0.00

-0.00

0.0

1.0

—

(40765096) Chromosome analysis panel by Banding

0.00

-0.00

0.0

1.6

—

(3015183) Erythrocyte sedimentation rate

0.00

-0.00

0.0

1.2

—

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

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

—

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

0.00

-0.00

0.0

1.6

—

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

0.00

-0.00

0.0

5.4

—

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

0.00

-0.00

0.0

1.4

—

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

0.00

-0.00

0.0

1.5

—

0.60

—

(3032155) Metanephrine Free [Moles/volume] in Serum or Plasma

0.00

-0.00

0.0

1.5

—

(3029080) Hemoglobin [Entitic mass] in Reticulocytes

0.00

-0.00

0.0

1.3

—

33.57

—

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

0.00

-0.00

0.0

1.6

—

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

0.00

-0.00

0.0

1.2

—

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

0.00

-0.00

0.0

2.4

—

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

0.00

-0.00

0.0

1.1

—

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

0.00

-0.00

0.0

1.1

—

(3028772) Osteocalcin [Mass/volume] in Serum or Plasma

0.00

-0.00

0.0

2.5

—

34183.33

—

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