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	520210
1. Apply sex-specific rule None	520210
2. Check conditions not Q17_SYNDROMATA_MALFORMATIONUM_CONGENITAR_PRAECI_FACIEM_AFFIC1	520105
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.	76
4. Check minimum number of events None	76
5. Include endpoints None	76
6. Filter based on genotype QC (FinnGen only)	76

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	76	41	35
Unadjusted period prevalence (%)	0.01	0.01	0.02
Median age at first event (years)	0.87	1.18	0.50

-FinRegistry-

Age distribution of first events

-FinnGen-

Age distribution of first events

-FinRegistry-

Year distribution of first events

-FinnGen-

Year distribution of first events

-FinRegistry-

Cumulative Incidence Function

-FinnGen-

Cumulative Incidence Function

No data

CodeWAS (R11)

↥

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

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

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

Matched cohort

Matched cases
71: Matched controls
710

Code

Vocabulary

Description

Odds Ratio

-log₁₀(p)

N matched cases

N matched controls

Q75.00

ICD-10 Finland

Coronary craniosynostosis

+∞

25.6

AA6AD

NOMESCO Finland

Cranial bones CT examination

292.4

21.9

75600

ICD-8 Finland

Other congenital anomalies of musculoskeletal system, Craniosynostosis (craniosternosis)

+∞

20.8

AAK30

NOMESCO Finland

Craniofacial reconstruction in congenital malformations

+∞

17.4

Q75.01

ICD-10 Finland

Sagittal craniosynostoos

+∞

16.3

7560A

ICD-9 Finland

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

+∞

14.0

QA9S1

NOMESCO Finland

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

+∞

14.0

XXA00

NOMESCO Finland

Clinical examination requiring general anaesthesia

78.2

12.0

Q75.0

ICD-10 Finland

Craniosynostosis

+∞

9.6

AAK20

NOMESCO Finland

Operations for craniosynostosis

+∞

6.3

QA1S1

NOMESCO Finland

Photography of skin or subcutaneous tissue in head

+∞

6.3

AA1BG

NOMESCO Finland

Standard MRI examination of brain with high intensity magnet

6.7

6.1

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

9.48

3.86

1.1

1.4

—

(3044640) Blood type and Crossmatch panel - Blood

155

2.15

2.43

1.6

3.3

—

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

122

2.13

1.4

3.5

—

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

206

1.96

2.07

1.7

1.6

—

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

3.24

1.85

5.0

1.6

—

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

234

1.82

1.73

2.6

5.0

—

(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

637

2.74

1.55

7.7

8.6

—

(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

2.90

1.30

6.4

57.6

—

(3022313) Gas panel - Capillary blood

120

1.78

1.24

6.1

10.1

—

(44816559) Phosphatidylethanol [Mass/volume] in Blood

2.60

1.17

1.2

—

(4035726)

2.46

1.16

1.1

2.0

—

(3014007) Fractional oxyhemoglobin in Arterial blood

2.47

1.11

9.2

28.8

96.70

94.78

—

(3028653) Carboxyhemoglobin/Hemoglobin.total in Arterial blood

2.47

1.11

9.2

28.8

1.40

1.21

—

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

375

1.57

1.09

6.1

6.7

104.62

102.66

ml/min/173m2

0.25

267

(3006217) Methemoglobin/Hemoglobin.total in Arterial blood

2.36

1.05

9.2

27.5

0.92

0.71

—

(42870588) Differential panel, method unspecified - Blood

268

0.61

1.02

4.2

9.8

—

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

0.00

1.00

0.0

1.6

—

4.22

—

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

0.00

1.00

0.0

1.5

—

2.34

—

(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

378

0.66

0.95

3.6

4.4

—

(3022621) pH of Urine by Test strip

2.16

0.91

1.7

2.3

—

(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

0.77

1.2

—

(3045414) Leukocytes [Presence] in Urine

2.25

0.77

2.6

1.7

—

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

155

0.59

0.76

2.3

3.2

2.72

2.60

mg/l

—

138

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

220

1.43

0.72

1.3

1.7

2.03

1.79

g/l

0.32

113

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

1.84

0.67

1.0

1.8

—

(3011288) Drugs identified in Urine by Screen method

1.65

0.67

1.7

—

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

1.64

0.66

1.1

1.5

—

(3007853) Bacteria identified in Skin by Aerobe culture

1.58

0.66

1.2

1.5

—

(3025941) Bacteria identified in Stool by Culture

1.77

0.65

1.4

1.3

—

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

0.00

0.61

0.0

1.8

—

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

0.00

0.61

0.0

1.6

—

2.62

—

(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

—

0.37

—

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

0.00

0.61

0.0

2.1

—

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

0.00

0.60

0.0

1.0

—

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

1.54

0.59

1.4

8.3

74.25

89.37

—

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

0.00

0.59

0.0

1.3

—

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

0.00

0.59

0.0

1.2

—

(3023410) Appearance of Cerebral spinal fluid

0.00

0.59

0.0

5.2

—

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

0.00

0.59

0.0

1.3

—

(3047007) Chlamydophila sp Ab [Presence] in Serum

0.00

0.59

0.0

1.2

—

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

0.00

0.59

0.0

11.0

—

59.73

—

(3032080) INR in Blood by Coagulation assay

126

1.45

0.58

4.6

5.1

1.08

1.13

inr

—

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

229

1.35

0.55

1.4

1.5

0.44

2.20

u/ml

—

(3027944) Amphetamines [Presence] in Urine

1.49

0.55

1.2

1.5

—

(3027008) Opiates [Presence] in Urine

1.46

0.54

1.2

1.5

—

(3028300) Cannabinoids [Presence] in Urine

1.46

0.54

1.2

1.5

—

(3026782) Osmolality of Urine

117

0.65

0.50

2.6

3.2

631.50

586.36

mosm/kgh2o

—

(40768797) Stomach Pathology biopsy report

1.57

0.50

1.0

1.5

—

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

1.54

0.49

3.6

1.3

—

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

1.47

0.47

1.3

1.6

—

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

1.47

0.47

6.0

19.2

106.57

104.96

mmol/l

—

(3000991) Gas panel - Venous blood

113

1.41

0.47

5.1

14.1

—

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

514

1.34

0.47

3.3

3.8

1.83

1.93

mu/l

0.30

489

(3002256) Pathology report gross observation

1.44

0.46

1.4

1.2

—

(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

—

(3016879) Cocaine [Presence] in Urine

1.37

0.42

1.3

1.5

—

(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

—

(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

—

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

0.00

0.41

0.0

2.0

—

3.70

—

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

0.00

0.41

0.0

2.1

—

(3045462) Protein/Creatinine [Ratio] in Urine

0.00

0.41

0.0

14.9

—

197.47

—

(3016018) Differential panel - Cerebral spinal fluid

0.00

0.41

0.0

4.4

—

(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

—

(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

—

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

0.00

0.40

0.0

1.7

—

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

0.00

0.40

0.0

13.2

—

0.34

—

(3020393) Adenovirus Ag [Presence] in Stool

0.00

0.40

0.0

2.1

—

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

0.00

0.40

0.0

1.1

—

3.44

—

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

0.00

0.39

0.0

1.3

—

(3013512) EKG study

1.34

0.39

2.2

3.8

—

(3041096) Erythrocytes [Presence] in Urine by Automated

125

0.68

0.39

2.6

2.9

—

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

1.32

0.38

1.0

1.1

—

(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

408

0.82

0.32

3.0

11.5

3.98

3.81

e9/l

0.19

351

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

172

0.77

0.31

2.7

2.2

—

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

620

0.78

0.31

3.7

4.0

—

(3000492) Spirometry study

1.27

0.30

1.0

1.4

—

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

191

0.79

0.29

2.4

3.3

—

(3000764) Benzodiazepines [Presence] in Urine

1.28

0.28

1.3

1.5

—

(3044889) 12 lead EKG panel

261

1.18

0.23

2.6

2.3

—

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

1.23

0.22

1.4

985.42

1153.35

nmol/l

—

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

441

1.17

0.22

3.3

14.39

14.36

pmol/l

0.03

408

(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

—

(3041642) Human coronavirus 229E 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

—

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

0.00

0.21

0.0

1.6

—

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

0.00

0.21

0.0

1.5

—

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

0.00

0.21

0.0

1.6

—

(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

—

88.40

—

(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

—

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

0.00

0.21

0.0

1.0

—

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

0.00

0.21

0.0

5.1

—

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

0.00

0.21

0.0

1.0

—

(3026250) Tacrolimus [Mass/volume] in Blood

0.00

0.21

0.0

64.6

—

6.61

—

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

0.00

0.21

0.0

13.8

—

881.42

—

(4268621)

0.00

0.21

0.0

2.1

—

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

0.00

0.21

0.0

14.9

—

1704.83

—

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

0.00

0.21

0.0

1.1

—

(3008733) Herpes simplex 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

—

(3003181) Sodium [Moles/volume] in Urine

0.00

0.21

0.0

1.5

—

85.00

—

(4306422)

0.00

0.21

0.0

1.0

—

(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

—

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

0.00

0.20

0.0

1.6

—

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

0.00

0.20

0.0

1.3

—

(3015736) pH of Urine

224

0.85

0.18

2.3

3.3

—

(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

0.71

0.17

1.4

3.2

—

(40758558) Short blood count panel - Blood

211

0.87

0.15

2.0

8.8

—

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

292

0.88

0.15

2.4

3.2

45.52

64.15

ug/l

0.99

277

(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

—

(3018095) Leukocytes [#/volume] in Urine

220

0.88

0.14

3.1

5.5

117.25

27.58

e6/l

0.54

156

(3009542) Hematocrit [Volume Fraction] of Blood

652

1.23

0.14

9.0

15.1

39.75

39.76

0.01

585

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

164

1.13

0.11

2.3

3.6

—

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

1.04

0.08

1.2

—

(3000494) Fungus identified in Specimen by Culture

0.77

0.08

1.8

1.7

—

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

0.77

0.08

1.2

2.0

—

(1761868) Lipid panel - Serum or Plasma

157

1.11

0.08

2.1

2.0

—

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

1.08

0.07

1.3

1.8

—

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

119

1.11

0.06

5.4

13.2

1.37

1.39

mmol/l

0.07

114

(40768804) Tissue Pathology biopsy report

162

1.06

0.02

1.3

1.8

—

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

262

1.05

0.02

1.9

—

(3023368) Bacteria identified in Blood by Culture

113

1.07

0.02

2.5

4.3

—

(36660697) Celiac disease serology panel - Serum

106

0.93

0.01

1.5

1.2

—

(36304419) Bacteria [Presence] in Urine

172

0.99

0.00

2.8

4.4

—

(3026008) Bacteria identified in Urine by Culture

147

1.03

0.00

1.8

2.6

—

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

117

1.03

0.00

2.3

4.0

7.18

0.65

e6/l

—

(40760892) CBC W Ordered Manual Differential panel - Blood

135

0.96

0.00

2.5

6.7

—

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

199

1.01

0.00

2.8

4.8

—

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

629

1.01

0.00

8.3

11.8

16.74

22.27

mg/l

0.99

447

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

136

1.04

0.00

1.4

1.5

120.27

94.45

pmol/l

—

(3033319) Streptococcus pyogenes Ag [Presence] in Throat

164

0.97

0.00

1.8

2.0

—

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

184

0.97

0.00

2.6

2.3

—

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

0.00

0.0

1.0

—

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

0.00

0.0

1.1

—

(21494755) Public health laboratory ask at order entry panel

1.00

0.00

1.3

1.2

—

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

0.00

0.0

1.1

—

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

0.00

0.0

1.7

—

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

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

0.0

1.0

—

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

0.00

0.0

2.9

—

1.09

—

(40768446) Kidney Pathology biopsy report

0.00

0.0

2.3

—

(3042111) Morphology [Interpretation] in Bone marrow Narrative

0.00

0.0

3.0

—

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

0.00

0.0

1.1

—

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

0.00

0.0

1.1

—

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

0.00

0.0

1.1

—

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

0.00

0.0

1.9

—

1.13

—

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

0.00

0.0

1.3

—

2.02

—

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

0.00

0.0

1.1

—

(3029080) Hemoglobin [Entitic mass] in Reticulocytes

0.00

0.0

1.3

—

33.57

—

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

0.00

0.0

1.5

—

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

0.00

0.0

1.0

—

32.47

—

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

0.00

0.0

1.6

—

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

0.00

0.0

1.3

—

(40765096) Chromosome analysis panel by Banding

0.00

0.0

1.6

—

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

0.00

0.0

1.3

—

(3039443) Prostate specific Ag panel - Serum or Plasma

0.00

0.0

1.4

—

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

0.00

0.0

1.6

—

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

0.00

0.0

1.4

—

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

0.00

0.0

5.7

—

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

0.00

0.0

1.3

—

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

0.00

0.0

3.0

—

13.50

—

(3011985) Renin [Units/volume] in Plasma

0.00

0.0

1.4

—

40.98

—

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

0.00

0.0

1.2

—

(3004588) Protein electrophoresis panel - Serum or Plasma

0.00

0.0

1.8

—

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

0.00

0.0

1.6

—

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

0.00

0.0

1.4

—

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

0.00

0.0

1.2

—

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

0.00

0.0

1.0

—

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

0.00

0.0

1.0

—

(4198724)

0.00

0.0

1.9

—

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

0.00

0.0

1.0

—

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

0.00

0.0

1.2

—

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

0.00

0.0

1.0

—

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

0.00

0.0

1.0

—

1926.50

—

(3051611) Lipemic interference index of Serum or Plasma

0.00

0.0

2.4

—

(3016038) Potassium [Moles/volume] in Urine

0.00

0.0

1.8

—

31.25

—

(3015183) Erythrocyte sedimentation rate

0.00

0.0

1.2

—

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

0.00

0.0

2.5

—

(40768793) Breast Pathology biopsy report

0.00

0.0

1.3

—

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

0.00

0.0

1.6

—

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

0.00

0.0

1.5

—

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

0.00

0.0

1.5

—

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

0.00

0.0

3.8

—

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

0.89

0.00

2.6

1.6

—

(3000093) Morphology [Interpretation] in Blood Narrative

0.00

0.0

1.3

—

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

0.00

0.0

1.9

—

11.07

—

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

0.00

0.0

1.0

—

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

0.00

0.0

1.2

—

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

0.99

0.00

1.1

2.2

—

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

0.00

0.0

1.0

—

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

0.00

0.0

1.0

—

(3029075) Extractable nuclear Ab panel - Serum

0.00

0.0

1.2

—

(3036071) Salmonella sp Ab [Titer] in Serum

0.00

0.0

1.3

—

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

0.00

0.0

1.7

—

13.40

—

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

0.00

0.0

1.0

—

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

0.00

0.0

1.0

—

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

0.00

0.0

3.4

—

6.46

—

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

0.00

0.0

1.0

—

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

0.00

0.0

2.2

—

82.00

—

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

0.00

0.0

1.5

—

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

0.00

0.0

1.5

—

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

0.00

0.0

1.0

—

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

0.00

0.0

1.2

—

(3051651) Icteric interference index of Serum or Plasma

0.00

0.0

2.1

—

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

0.00

0.0

1.0

—

107.00

—

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

0.00

0.0

5.4

—

(3009871) Measles virus Ab [Titer] in Serum

0.00

0.0

1.8

—

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

0.95

0.00

1.1

5.6

277.00

308.67

umol/l

—

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

0.00

0.0

14.5

—

7.54

—

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

0.00

0.0

1.0

—

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

0.00

0.0

2.3

—

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

0.00

0.0

1.5

—

(4281824)

0.00

0.0

1.0

—

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

0.00

0.0

5.4

—

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

0.00

0.0

1.0

—

(21494434) Karyotype in Bone marrow

0.00

0.0

1.9

—

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

0.00

0.0

3.2

—

(3032352) Blasts [#/volume] in Cerebral spinal fluid

0.00

0.0

10.0

—

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

0.00

0.0

3.9

—

(3000012) Reticulocyte production index

0.00

0.0

1.0

—

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

0.00

0.0

1.5

—

0.60

—

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

0.00

0.0

1.3

—

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

0.00

0.0

9.4

—

113.60

—

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

0.00

0.0

2.4

—

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 (R11)

Matched cohort

LabWAS

Mortality – FinRegistry

Association

Females

Males

Mortality risk

Relationships between endpoints