Other congenital malformations of skull and face bones

Q17_OTHER_CONGEN_MALFO_SKULL_FACE_BONES

No definition available.

Endpoint definition

↥

Endpoint definition steps	FinnGen
Phenotype data	520210
1. Apply sex-specific rule None	520210
2. Check conditions None	520210
3. Check pre-conditions, main-only, mode, registry filters Registry filters: Hospital discharge: ICD-10 — Q75 Cause of death: ICD-10 — Q75 2 out of 7 registries used, show all original rules.	126
4. Check minimum number of events None	126
5. Include endpoints None	126
6. Filter based on genotype QC (FinnGen only)	126

Control definitions (FinnGen only)

Control exclude: Q17_CONGEN_MALFO_DEFORMAT_MUSCULOS_SYSTEM

Extra metadata

Level in the ICD hierarchy: 3
First used in FinnGen datafreeze: DF4
Parent code in ICD-10: Q6[5-9]|Q7
Name in latin: Aliae malformationes congenitae ossium cranii et faciei

NAME	Q17_OTHER_CONGEN_MALFO_SKULL_FACE_BONES
CONTROL_EXCLUDE	Q17_CONGEN_MALFO_DEFORMAT_MUSCULOS_SYSTEM
CONTROL_PRECONDITIONS
CONTROL_CONDITIONS
SEX
INCLUDE
PRE_CONDITIONS
CONDITIONS
OUTPAT_ICD
OUTPAT_OPER
HD_MAINONLY
HD_ICD_10_ATC
HD_ICD_10	Q75
HD_ICD_9
HD_ICD_8
HD_ICD_10_EXCL
HD_ICD_9_EXCL
HD_ICD_8_EXCL
COD_MAINONLY
COD_ICD_10	Q75
COD_ICD_9
COD_ICD_8
COD_ICD_10_EXCL
COD_ICD_9_EXCL
COD_ICD_8_EXCL
OPER_NOM
OPER_HL
OPER_HP1
OPER_HP2
KELA_REIMB
KELA_REIMB_ICD
KELA_ATC_NEEDOTHER
KELA_ATC
KELA_VNRO_NEEDOTHER
KELA_VNRO
CANC_TOPO
CANC_TOPO_EXCL
CANC_MORPH
CANC_MORPH_EXCL
CANC_BEHAV

Similar endpoints

↥

List of similar endpoints to Other congenital malformations of skull and face bones 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	3696	1272	2423
Only index persons	2224	749	1475
Unadjusted period prevalence (%)
Whole population	0.06	0.04	0.07
Only index persons	0.05	0.03	0.06
Median age at first event (years)
Whole population	0.83	0.91	0.77
Only index persons	1.25	1.40	1.18

-FinnGen-

Key figures

	All	Female	Male
Number of individuals	126	67	59
Unadjusted period prevalence (%)	0.02	0.02	0.03
Median age at first event (years)	3.27	4.27	2.13

-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
112: Matched controls
1119

Code

Vocabulary

Description

Odds Ratio

-log₁₀(p)

N matched cases

N matched controls

Q75.3

ICD-10 Finland

Macrocephaly

+∞

40.0

AA6AD

NOMESCO Finland

Cranial bones CT examination

+∞

28.3

Q75.00

ICD-10 Finland

Coronary craniosynostosis

+∞

28.3

AAK30

NOMESCO Finland

Craniofacial reconstruction in congenital malformations

+∞

18.2

Q75.01

ICD-10 Finland

Sagittal craniosynostoos

+∞

17.1

Q75.9

ICD-10 Finland

Congenital malformation of skull and face bones, unspecified

+∞

17.1

XXA00

NOMESCO Finland

Clinical examination requiring general anaesthesia

39.6

14.0

QA9S1

NOMESCO Finland

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

145.6

12.7

Q75.0

ICD-10 Finland

Craniosynostosis

+∞

9.5

Q75.88

ICD-10 Finland

Other specified congenital malformations of skull and face bones

+∞

9.5

Q75.1

ICD-10 Finland

Craniofacial dysostosis

+∞

9.5

Q67.3

ICD-10 Finland

Plagiocephaly

+∞

8.4

EEC05

NOMESCO Finland

Le Fort I osteotomy

+∞

8.4

R62.0

ICD-10 Finland

Delayed milestone

5.4

7.4

AAK20

NOMESCO Finland

Operations for craniosynostosis

+∞

7.4

R4130

NOMESCO Finland

Speech therapy

6.7

7.3

AA1BG

NOMESCO Finland

Standard MRI examination of brain with high intensity magnet

4.6

6.9

F83

ICD-10 Finland

Mixed specific developmental disorders

7.0

6.8

Z01.8

ICD-10 Finland

Other specified special examinations

3.4

6.5

126

WX404

NOMESCO Finland

Intravenous generell anesthesy

2.9

6.4

234

Q75.08

ICD-10 Finland

Other craniosynostosis

+∞

6.3

Z31.5

ICD-10 Finland

Genetic counselling

4.3

6.2

LabWAS

↥

(ID) Name

N Cases

N Controls

-log₁₀(p)

cases

controls

cases

controls

unit

-log₁₀(p)

N cases

N controls

(3044640) Blood type and Crossmatch panel - Blood

268

2.36

4.92

2.4

3.6

—

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

224

2.31

4.40

1.9

3.6

—

(3013826) Glucose [Moles/volume] in Serum or Plasma

551

1.96

3.29

5.5

10.7

6.5

5.9

mmol/l

0.56

503

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

381

1.85

2.82

3.6

4.9

—

(43055554) Base excess.100% oxygenated [Moles/volume] standard in Capillary blood by calculation

272

1.88

2.70

5.7

10.7

0.5

1.2

mmol/l

0.90

195

(3009343) pH of Capillary blood

273

1.87

2.67

5.8

10.7

—

7.4

—

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

2.93

2.26

2.5

1.2

—

(40761511) CBC panel - Blood by Automated count

116

1034

2.54

2.19

9.7

8.8

—

(3019225) pH of Specimen

2.86

1.97

3.3

5.1

—

(3022313) Gas panel - Capillary blood

253

1.72

1.95

5.8

10.0

—

(3032080) INR in Blood by Coagulation assay

220

1.75

1.92

4.6

6.0

1.0

1.2

inr

—

(3026008) Bacteria identified in Urine by Culture

229

1.73

1.90

2.4

2.6

—

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

114

1027

2.16

1.78

9.8

12.8

19.3

22.4

mg/l

0.53

718

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

304

0.52

1.77

2.1

—

(4035726)

2.18

1.55

1.2

2.1

—

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

740

1.57

1.51

4.2

3.4

14.3

14.6

pmol/l

0.48

678

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

343

1.54

1.46

1.5

1.6

—

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

240

0.53

1.42

2.7

2.2

—

(3023368) Bacteria identified in Blood by Culture

178

1.66

1.41

4.1

5.4

—

(3045414) Leukocytes [Presence] in Urine

2.49

1.41

2.0

1.5

—

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

856

1.58

1.33

4.6

3.8

2.2

2.0

mu/l

0.55

800

(3009214) Lutropin [Units/volume] in Serum or Plasma

1.87

1.29

2.1

2.5

5.3

5.9

u/l

—

(3037551) Cancer Ag 125 [Units/volume] in Serum or Plasma

2.47

1.26

2.0

2.6

52.2

74.5

u/ml

—

(4034850)

2.70

1.22

12.0

5.8

—

(40761872) Peanut recombinant (rAra h) 2 IgE Ab [Units/volume] in Serum

0.00

1.18

0.0

1.4

—

52.8

—

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

0.00

1.18

0.0

1.8

—

8.0

—

(3003396) Base excess in Arterial blood by calculation

1.87

1.16

4.5

24.8

1.6

1.1

mmol/l

—

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

259

0.60

1.12

2.6

2.4

—

(3008152) Bicarbonate [Moles/volume] in Arterial blood

2.33

1.12

2.6

19.5

25.8

24.9

mmol/l

—

(3000330) Specific gravity of Urine by Test strip

2.12

1.04

1.6

1.7

—

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

2.32

1.04

1.6

1.7

—

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

192

1.52

1.04

1.2

1.6

104.1

93.7

pmol/l

0.57

(3001019) Free T4 and TSH panel - Serum or Plasma

2.06

1.01

1.7

1.4

—

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

1.90

1.01

3.7

26.3

128.8

127.0

g/l

—

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

0.00

0.99

0.0

1.4

—

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

0.00

0.98

0.0

1.2

—

(3016502) Oxygen saturation in Arterial blood

1.85

0.97

4.7

28.8

94.8

93.2

0.17

(3045462) Protein/Creatinine [Ratio] in Urine

0.00

0.96

0.0

9.3

—

124.5

—

(3023323) Follitropin [Units/volume] in Serum or Plasma

1.76

0.92

2.3

2.7

3.7

8.9

iu/l

—

(3019060) Gas panel - Arterial blood

2.12

0.90

2.0

19.3

—

(3002032) Base excess in Venous blood by calculation

234

1.43

0.89

4.3

11.8

1.4

1.0

mmol/l

0.45

168

(3002256) Pathology report gross observation

1.79

0.89

1.1

—

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

367

1.35

0.82

6.6

9.7

36.1

33.4

umol/l

0.10

344

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

266

1.38

0.80

7.0

16.5

24.4

mmol/l

0.01

266

(40768443) Skin Pathology biopsy report

1.86

0.80

1.2

—

(3021589) Normoblasts [#/volume] in Blood

638

0.76

0.79

9.4

11.7

0.0

e9/l

0.00

472

(3029187) Natriuretic peptide.B prohormone N-Terminal [Mass/volume] in Serum or Plasma

116

1.54

0.79

2.1

9.9

955.9

1035.8

ng/l

—

(3004410) Hemoglobin A1c/Hemoglobin.total in Blood

573

1.32

0.78

3.9

3.7

35.5

37.0

mmol/mol

0.92

531

(3019832) Treponema pallidum Ab [Presence] in Serum

205

0.64

0.78

2.0

1.7

—

(3051714) Fibrin D-dimer FEU [Mass/volume] in Platelet poor plasma

170

1.43

0.74

3.5

5.8

0.7

2.4

mg/l

0.88

132

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

197

1.40

0.74

2.1

3.6

0.0

estimate

—

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

244

0.69

1.6

1.8

—

(3000991) Gas panel - Venous blood

218

1.37

0.68

5.6

14.8

—

(3006923) Alanine aminotransferase [Enzymatic activity/volume] in Serum or Plasma

102

955

1.36

0.63

7.5

9.8

26.7

27.2

u/l

0.10

922

(3021584) Pregnancy associated plasma protein A [Units/volume] in Serum or Plasma

113

0.60

0.61

1.3

1.5

—

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

1.57

0.61

2.3

—

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

0.00

0.60

0.0

2.7

—

11.6

—

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

0.00

0.60

0.0

4.2

—

27.0

—

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

0.00

0.59

0.0

1.3

—

(3022217) INR in Platelet poor plasma by Coagulation assay

1.70

0.57

1.3

13.7

—

1.2

—

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

1.61

0.55

5.0

43.8

—

(3042936) Bacteria identified in Isolate by Culture

100

1.45

0.54

2.9

2.8

—

(3013512) EKG study

110

1.41

0.51

3.8

3.0

—

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

1.46

0.49

2.0

—

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

119

0.65

0.48

3.5

4.2

10.5

8.7

g/l

—

114

(3000963) Hemoglobin [Mass/volume] in Blood

121

1179

1.66

0.47

17.4

18.6

130.8

133.1

g/l

0.95

121

1169

(3024731) MCV [Entitic volume]

121

1178

1.68

0.47

17.1

18.1

86.2

86.4

0.15

121

1168

(3035941) MCH [Entitic mass]

121

1178

1.68

0.47

17.1

18.1

28.9

29.1

0.49

121

1167

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

0.59

0.47

1.2

—

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

1.45

0.47

3.3

4.3

—

(3022621) pH of Urine by Test strip

1.42

0.46

1.6

2.0

—

(3009542) Hematocrit [Volume Fraction] of Blood

111

1066

1.35

0.44

13.8

17.5

39.1

0.06

100

948

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

150

1.31

0.43

2.9

3.3

9.0

18.4

ng/l

—

(40760892) CBC W Ordered Manual Differential panel - Blood

196

1.28

0.43

5.0

5.7

—

(3000492) Spirometry study

1.47

0.43

1.1

1.4

—

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

0.00

0.41

0.0

2.5

—

1.0

—

(3018993) Complement total hemolytic CH100 [Units/volume] in Serum or Plasma

0.00

0.41

0.0

1.1

—

(44817194) Complement alternate pathway AH50 actual/normal in Serum by Immunoassay

0.00

0.41

0.0

1.1

—

77.3

—

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

0.00

0.41

0.0

3.5

—

(40768446) Kidney Pathology biopsy report

0.00

0.41

0.0

2.2

—

(3005702) Mycobacterium sp identified in Specimen by Organism specific culture

0.00

0.41

0.0

1.6

—

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

0.00

0.41

0.0

1.1

—

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

0.00

0.41

0.0

1.1

—

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

0.00

0.40

0.0

1.2

—

(40768797) Stomach Pathology biopsy report

1.41

0.40

1.0

1.5

—

(3000093) Morphology [Interpretation] in Blood Narrative

0.00

0.39

0.0

1.1

—

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

0.00

0.39

0.0

1.8

—

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

114

0.68

0.39

1.6

1.2

—

26.4

—

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

1.37

0.37

5.6

15.0

84.4

86.4

0.09

(42870588) Differential panel, method unspecified - Blood

490

1.18

0.36

7.2

11.1

—

(40766189) Gliadin peptide IgG Ab [Units/volume] in Serum by Immunoassay

1.38

0.35

1.0

1.2

—

25.4

—

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

316

1.19

0.34

6.2

9.8

36.9

37.1

g/l

0.05

304

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

0.67

0.34

1.3

1.5

—

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

1.35

0.34

1.5

1.8

—

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

553

1.16

0.32

8.8

7.6

108.0

103.1

ml/min/173m2

0.80

386

(1761868) Lipid panel - Serum or Plasma

206

0.80

0.32

1.9

—

(3006504) Eosinophils/100 leukocytes in Blood

623

1.16

0.32

6.8

10.5

3.9

3.2

1.02

596

(36660697) Celiac disease serology panel - Serum

204

1.22

0.31

1.2

—

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

1.34

0.31

1.1

2.1

—

(3022145) Colonoscopy Study observation

1.31

0.31

1.1

1.6

—

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

140

1.25

0.29

1.6

2.3

—

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

380

1.16

0.28

4.2

3.4

66.4

70.6

nmol/l

0.76

353

(3009035) Cobalamin (Vitamin B12) [Moles/volume] in Serum or Plasma

1.31

0.27

1.5

1.4

627273128.9

470.5

pmol/l

0.47

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

0.68

0.27

1.2

1.3

—

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

159

0.80

0.26

1.2

1.6

—

(3016879) Cocaine [Presence] in Urine

1.28

0.25

2.0

1.9

—

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

499

0.88

0.25

4.3

4.7

47.9

30.1

u/l

0.84

482

(3011288) Drugs identified in Urine by Screen method

1.18

0.25

3.0

2.1

—

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

0.71

0.25

3.3

2.0

—

(3019069) Monocytes/100 leukocytes in Blood

631

1.13

0.24

6.9

10.7

8.2

8.3

0.15

607

(3019150) Specific gravity of Urine by Refractometry

200

1.18

0.24

2.1

2.7

1.0

kg/l

—

(40758558) Short blood count panel - Blood

394

1.14

0.24

7.2

10.2

—

(3007853) Bacteria identified in Skin by Aerobe culture

144

1.21

0.23

1.7

—

(40761535) Cells panel - Urine sediment

1.29

0.23

1.6

3.6

—

(3024889) Methemoglobin/Hemoglobin.total in Venous blood

1.29

0.23

2.0

21.7

0.6

0.7

—

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

154

1.20

0.22

1.8

2.1

—

(3015736) pH of Urine

343

0.87

0.22

2.5

3.2

—

(3037467) Urinalysis macro (dipstick) panel - Urine

636

0.89

0.22

3.7

4.2

—

(3018251) Fasting glucose [Moles/volume] in Serum or Plasma

624

1.12

0.22

3.6

2.9

5.8

5.6

mmol/l

0.48

572

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

0.00

0.21

0.0

5.5

—

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

0.00

0.21

0.0

1.8

—

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

0.00

0.21

0.0

1.8

—

(3036071) Salmonella sp Ab [Titer] in Serum

0.00

0.21

0.0

1.2

—

(3013290) Carbon dioxide [Partial pressure] in Blood

0.00

0.21

0.0

10.0

—

4.6

—

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

0.00

0.21

0.0

1.8

—

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

0.00

0.21

0.0

5.5

—

(3042111) Morphology [Interpretation] in Bone marrow Narrative

0.00

0.21

0.0

3.5

—

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

0.00

0.21

0.0

2.7

—

92.0

—

(3027315) Oxygen [Partial pressure] in Blood

0.00

0.21

0.0

10.0

—

9.1

—

(3023419) Bacteria identified in Sputum by Culture

0.00

0.21

0.0

9.4

—

(3039443) Prostate specific Ag panel - Serum or Plasma

0.00

0.21

0.0

1.3

—

(40761873) Peanut recombinant (rAra h) 1 IgE Ab [Units/volume] in Serum

0.00

0.21

0.0

1.1

—

38.7

—

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

0.00

0.21

0.0

1.2

—

(3033882) Carnitine [Moles/volume] in Serum or Plasma

0.00

0.21

0.0

2.1

—

35.3

—

(3026515) Parvovirus B19 IgM Ab [Units/volume] in Serum

0.00

0.21

0.0

1.2

—

(3016273) Islet cell 512 Ab [Units/volume] in Serum

0.00

0.21

0.0

1.2

—

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

0.00

0.21

0.0

6.5

—

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

1.24

0.20

2.7

2.6

—

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

0.00

0.20

0.0

1.1

—

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

0.00

0.20

0.0

1.2

—

2.6

—

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

0.00

0.20

0.0

1.2

—

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

281

1.14

0.20

1.9

3.1

—

(3006315) Basophils [#/volume] in Blood

637

1.11

0.19

6.9

10.3

0.0

e9/l

0.13

528

(3027944) Amphetamines [Presence] in Urine

100

1.22

0.19

1.5

1.9

—

(3018010) Neutrophils/100 leukocytes in Blood

648

1.11

0.19

6.5

10.1

50.1

49.4

0.15

625

(3044889) 12 lead EKG panel

420

1.11

0.18

3.0

2.4

—

(3002030) Lymphocytes/100 leukocytes in Blood

659

1.10

0.18

6.7

10.2

33.9

35.9

0.66

636

(3001604) Monocytes [#/volume] in Blood

639

1.10

0.18

6.9

10.3

0.5

0.6

e9/l

1.61

529

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

254

1.13

0.18

2.4

3.5

—

(3035637) Corticotropin [Mass/volume] in Plasma

1.16

0.18

1.3

1.6

—

(3013115) Eosinophils [#/volume] in Blood

660

1.10

0.17

7.7

11.5

0.2

e9/l

0.41

560

(3019198) Lymphocytes [#/volume] in Blood

661

1.10

0.16

6.8

10.2

2.2

2.5

e9/l

2.16

567

(21494755) Public health laboratory ask at order entry panel

1.12

0.16

1.6

1.2

—

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

119

0.83

0.16

1.0

1.2

—

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

0.76

0.16

1.0

1.4

—

(3000764) Benzodiazepines [Presence] in Urine

102

1.20

0.16

2.0

1.9

—

(3027008) Opiates [Presence] in Urine

102

1.20

0.16

2.0

1.9

—

(3028300) Cannabinoids [Presence] in Urine

102

1.20

0.16

2.0

1.9

—

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

1.10

0.15

2.3

1.3

—

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

694

1.09

0.14

9.4

12.5

3.4

3.7

e9/l

0.83

582

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

132

1.15

0.14

2.3

5.2

1040.1

748.1

ng/l

—

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

113

1.17

0.13

1.6

2.2

—

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

210

1.12

0.13

2.4

4.0

3.1

0.6

e6/l

0.66

132

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

212

1.10

0.11

2.5

3.9

1.8

1.6

e6/l

0.09

134

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

102

1002

1.09

0.10

3.6

4.0

—

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

135

0.88

0.10

1.0

1.1

—

(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

1.17

0.10

1.6

2.0

—

(3044290) Cell count panel - Cerebral spinal fluid

1.17

0.10

3.6

5.6

—

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

1.14

0.10

7.6

28.0

24.0

24.7

mmol/l

—

(3014007) Fractional oxyhemoglobin in Arterial blood

1.14

0.10

7.6

28.1

97.9

94.9

—

(3015377) Calcium [Moles/volume] in Serum or Plasma

247

0.92

0.09

3.2

3.1

2.4

mmol/l

0.23

228

(3022096) Basophils/100 leukocytes in Blood

610

1.07

0.09

7.2

10.7

0.6

0.07

586

(3018095) Leukocytes [#/volume] in Urine

409

0.93

0.09

3.9

5.1

68.7

51.8

e6/l

0.18

283

(3028653) Carboxyhemoglobin/Hemoglobin.total in Arterial blood

1.07

0.09

7.6

26.4

1.0

1.3

—

(3006217) Methemoglobin/Hemoglobin.total in Arterial blood

1.04

0.09

7.6

25.9

0.9

0.7

—

(3019145) Choriogonadotropin.beta subunit free [Mass/volume] in Serum or Plasma

0.77

0.08

1.2

1.5

—

(3050129) First trimester maternal screen panel - Serum or Plasma

0.85

0.08

1.0

1.4

—

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

0.85

0.08

1.2

1.6

—

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

1.09

0.07

1.5

1.4

—

(3024891) Influenza virus A+B Ag [Presence] in Specimen

1.07

0.07

1.5

1.4

—

(3006598) pH of Arterial cord blood

1.06

0.07

1.0

—

(3004959) Base excess in Arterial cord blood by calculation

1.06

0.07

1.0

—

-1.7

—

(3000494) Fungus identified in Specimen by Culture

0.85

0.07

1.9

2.2

—

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

594

1.05

0.07

4.2

4.1

—

37.8

—

(3041096) Erythrocytes [Presence] in Urine by Automated

197

1.08

0.06

2.0

2.7

—

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

426

1.05

0.06

3.5

5.1

0.0

estimate

—

(3048689) Calprotectin [Mass/mass] in Stool

232

0.94

0.05

1.5

3.0

78.9

90.3

ug/g

0.11

188

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

368

1.05

0.04

3.3

4.4

—

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

432

0.96

0.04

1.3

1.7

1.6

g/l

0.04

205

(3013707) Erythrocyte sedimentation rate by Westergren method

658

1.04

0.04

3.0

4.8

8.4

8.6

mm/h

0.07

617

(36304419) Bacteria [Presence] in Urine

331

0.96

0.04

3.3

4.3

—

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

430

1.04

0.03

2.7

3.5

0.0

estimate

—

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

431

1.03

0.02

2.7

3.4

0.0

estimate

—

(40768804) Tissue Pathology biopsy report

242

1.04

0.02

1.6

1.8

—

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

113

1.07

0.02

1.7

2.1

—

(3037522) Nuclear Ab [Titer] in Serum

113

1.07

0.02

1.3

1.5

—

360.0

—

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

133

1.06

0.01

1.9

—

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

126

1.04

0.00

1.2

1.4

—

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

111

0.99

0.00

1.3

1.2

1.6

9.3

u/ml

—

(3033319) Streptococcus pyogenes Ag [Presence] in Throat

302

0.99

0.00

2.2

1.9

—

(3002582) Erythrocytes [#/volume] in Urine

352

0.99

0.00

3.2

4.3

96.0

37.3

e6/l

0.36

275

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

448

1.01

0.00

1.6

1.7

9.6

2.3

u/ml

—

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

325

1.02

0.00

3.3

4.4

0.4

0.3

e6/l

0.48

251

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

455

1.02

0.00

1.8

1.9

—

(40761536) Microorganisms panel - Urine sediment

0.95

0.00

3.8

4.0

—

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

0.00

0.0

1.2

—

2.5

—

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

0.00

0.0

1.0

—

2050.3

—

(3008860) Bordetella pertussis IgM Ab [Presence] in Serum

0.00

0.0

1.2

—

(3021788) Differential panel - Synovial fluid

0.00

0.0

1.0

—

(3021125) Hepatitis C virus RNA [Presence] in Serum or Plasma by NAA with probe detection

0.00

0.0

1.7

—

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

0.00

0.0

1.1

—

(3042631) Mycobacterium sp identified in Specimen

0.00

0.0

13.7

—

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

0.00

0.0

1.1

—

(3045788) Cell count panel - Pleural fluid

0.00

0.0

1.6

—

(3008536) Aspergillus sp Ab [Presence] in Serum

0.00

0.0

1.9

—

(3005570) Glucose [Moles/volume] in Urine

0.00

0.0

1.1

—

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

0.00

0.0

1.1

—

(3040363) Hepatitis A virus IgG Ab [Presence] in Serum by Immunoassay

0.00

0.0

1.2

—

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

0.00

0.0

1.4

—

(3001820) Epstein Barr virus nuclear Ab [Presence] in Serum

0.00

0.0

1.4

—

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

0.00

0.0

1.8

—

(3029075) Extractable nuclear Ab panel - Serum

0.00

0.0

1.1

—

(3042585) Pyridoxine [Moles/volume] in Serum or Plasma

0.00

0.0

1.0

—

57.5

—

(723474) SARS-CoV-2 (COVID-19) IgG Ab [Presence] in Serum or Plasma by Immunoassay

0.00

0.0

1.0

—

(3049717) Cytology report of Urine Cyto stain

0.00

0.0

1.8

—

(3013247) Albumin in CSF/Albumin in Serum or Plasma

0.00

0.0

1.0

—

4.6

—

(3040893) Potassium [Moles/volume] in Capillary blood

0.00

0.0

2.4

—

4.2

—

(723473) SARS-CoV-2 (COVID-19) IgA Ab [Presence] in Serum or Plasma by Immunoassay

0.00

0.0

1.0

—

(3012441) Differential panel - Pleural fluid

0.00

0.0

1.8

—

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

0.00

0.0

1.0

—

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

0.00

0.0

1.1

—

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

0.00

0.0

1.8

—

(3018301) Testosterone Free [Moles/volume] in Serum or Plasma

0.00

0.0

1.2

—

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

0.00

0.0

3.0

—

(3016724) Homocysteine [Moles/volume] in Serum or Plasma

0.00

0.0

1.5

—

7.8

—

(3023420) DNA double strand Ab [Units/volume] in Serum

0.00

0.0

1.4

—

(40768795) Lymph node Pathology biopsy report

0.00

0.0

1.1

—

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

0.00

0.0

1.7

—

21.8

—

(3002619) Bacteria identified in Specimen by Culture

0.00

0.0

1.2

—

(3053028) Streptococcus sp identified in Specimen by Organism specific culture

0.00

0.0

1.6

—

(3033306) Mononuclear cells/100 leukocytes in Cerebral spinal fluid

0.00

0.0

1.0

—

(3000012) Reticulocyte production index

0.00

0.0

1.0

—

(4211845)

0.00

0.0

1.8

—

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

0.00

0.0

1.1

—

(3032185) JC virus DNA [#/volume] (viral load) in Serum or Plasma by NAA with probe detection

0.00

0.0

8.7

—

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

0.00

0.0

1.4

—

(3006442) Creatine [Moles/volume] in Serum or Plasma

0.00

0.0

1.8

—

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

0.00

0.0

2.0

—

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

0.00

0.0

1.8

—

(3006462) Nitrate [Presence] in Urine

0.00

0.0

2.0

—

(3023511) Choriogonadotropin [Units/volume] in Urine

1.02

0.00

1.2

—

(3006576) Bicarbonate [Moles/volume] in Blood

0.00

0.0

13.0

—

23.6

—

(3009871) Measles virus Ab [Titer] in Serum

0.00

0.0

2.2

—

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

0.00

0.0

1.7

—

(3007847) Interleukin 2 Receptor Soluble [Units/volume] in Serum or Plasma

0.00

0.0

2.0

—

679.9

—

(3041082) Glomerular basement membrane Ab [Titer] in Serum by Immunofluorescence

0.00

0.0

1.0

—

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

0.00

0.0

1.1

—

(3025941) Bacteria identified in Stool by Culture

1.00

0.00

1.2

1.3

—

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

0.99

0.00

1.3

1.7

—

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

0.00

0.0

2.8

—

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

0.00

0.0

2.0

—

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

0.00

0.0

1.4

—

104.3

—

(3009550) Parvovirus B19 IgG Ab [Titer] in Serum

0.00

0.0

1.2

—

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

0.00

0.0

1.1

—

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

0.00

0.0

2.8

—

2.3

—

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

0.00

0.0

1.2

—

1.1

—

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

0.00

0.0

1.0

—

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

0.00

0.0

2.0

—

(3014373) Corynebacterium diphtheriae Ab [Units/volume] in Serum

0.00

0.0

2.2

—

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

0.00

0.0

1.8

—

(1001833) Epstein Barr virus DNA [Units/volume] (viral load) in Blood by NAA with probe detection

0.00

0.0

8.8

—

(3013201) Beta-2-Microglobulin [Mass/volume] in Serum or Plasma

0.00

0.0

1.6

—

3.0

—

(3013924) Clostridium tetani IgG Ab [Units/volume] in Serum

0.00

0.0

2.0

—

(40765096) Chromosome analysis panel by Banding

0.00

0.0

1.2

—

Mortality – FinRegistry

↥

Association

Association between endpoint Q17_OTHER_CONGEN_MALFO_SKULL_FACE_BONES and mortality.

Females

No data

Males

No data

Mortality risk

Mortality risk for people of age

years, who have Q17_OTHER_CONGEN_MALFO_SKULL_FACE_BONES.

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

Relationships between endpoints

↥

Index endpoint: Q17_OTHER_CONGEN_MALFO_SKULL_FACE_BONES – Other congenital malformations of skull and face bones

GWS hits: -

Endpoint

Case Overlap

Survival Analysis

Genetic Correlations

Genetic Signals

N (Jaccard index)

HR [CI]

rg [CI]

Hits

Coloc Hits

FinRegistry

FinnGen

FinRegistry

FinnGen

Loading data

Other congenital malformations of skull and face bones

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