Maxillary hypoplasia

K11_MAXIL_HYPOPL

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 None	557745
3. Check pre-conditions, main-only, mode, registry filters Registry filters: Primary healthcare outpatient: ICD-10 — K07.03 Hospital discharge: ICD-10 — K07.03 Cause of death: ICD-10 — K07.03 3 out of 7 registries used, show all original rules.	135
4. Check minimum number of events None	135
5. Include endpoints None	135
6. Filter based on genotype QC (FinnGen only)	123

Control definitions (FinnGen only)

Controls for this endpoint are individuals that are not cases.

Extra metadata

First used in FinnGen datafreeze: DF7

NAME	K11_MAXIL_HYPOPL
CONTROL_EXCLUDE
CONTROL_PRECONDITIONS
CONTROL_CONDITIONS
SEX
INCLUDE
PRE_CONDITIONS
CONDITIONS
OUTPAT_ICD	K0703
OUTPAT_OPER
HD_MAINONLY
HD_ICD_10_ATC
HD_ICD_10	K0703
HD_ICD_9
HD_ICD_8
HD_ICD_10_EXCL
HD_ICD_9_EXCL
HD_ICD_8_EXCL
COD_MAINONLY
COD_ICD_10	K0703
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 Maxillary hypoplasia 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	3195	1607	1586
Only index persons	2886	1454	1432
Unadjusted period prevalence (%)
Whole population	0.05	0.05	0.04
Only index persons	0.05	0.05	0.05
Median age at first event (years)
Whole population	11.82	11.93	11.68
Only index persons	12.43	12.50	12.35

-FinnGen-

Key figures

	All	Female	Male
Number of individuals	123	71	52
Unadjusted period prevalence (%)	0.02	0.03	0.02
Median age at first event (years)	22.13	18.85	26.60

-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
131: Matched controls
1310

Code

Vocabulary

Description

Odds Ratio

-log₁₀(p)

N matched cases

N matched controls

K07.03

ICD-10 Finland

Micrognatia (hypoplasia) of the upper jaw

+∞

189.2

131

K07.25

ICD-10 Finland

Anomalies of dental arch relationship

21.7

55.8

SJD20

NOMESCO Finland

Placement of modified orthodontic arch wire

17.8

51.4

SJD00

NOMESCO Finland

Removal and/or reactivation of orthodontic arch wire

13.5

47.1

SBB10

NOMESCO Finland

Dental impressions

11.5

45.8

157

SJD10

NOMESCO Finland

Placement of orthodontic arch wire

12.6

43.6

SAA04

NOMESCO Finland

Special examination of mouth

11.5

39.2

K07.14

ICD-10 Finland

Retrognaty, maxillary

183.1

39.2

SBB00

NOMESCO Finland

Clinical photography of mouth and teeth

12.5

39.1

SJX10

NOMESCO Finland

Orthodontic treatment/control appointment, short

9.6

37.6

118

EB1MA

NOMESCO Finland

Cephalometry with X-ray

11.3

36.6

EEC05

NOMESCO Finland

Le Fort I osteotomy

458.8

35.8

SJB00

NOMESCO Finland

Fitting of removable appliance incl. patient instructions

10.1

34.1

SJD40

NOMESCO Finland

Placement of prefabricated palatal or lingual arch

9.5

32.0

SJC50

NOMESCO Finland

Removal of fixed orthodontic appliance with at least 7 brackets

9.5

30.2

K07.11

ICD-10 Finland

Retrognathism (mandibular)(maxillary)

134.1

30.1

WZC10

NOMESCO Finland

Written specialist consultation based on a referral from a dentist or a physician

11.9

30.0

SJD30

NOMESCO Finland

Demanding placement of orthodontic arch wire

12.8

28.5

SJC10

NOMESCO Finland

Orthodontic band in one tooth

8.9

27.5

K07.01

ICD-10 Finland

Hyperplasia, hypoplasia mandibular

153.0

24.5

EDC10

NOMESCO Finland

Sagittal osteotomy of ramus of mandible

49.6

17.9

WZC05

NOMESCO Finland

Specialty-specific consultation based on referral by dentist or doctor

6.9

17.7

SJX20

NOMESCO Finland

Orthodontic treatment/control appointment

6.1

17.6

K07.13

ICD-10 Finland

Retrognaty, mandibular

17.5

17.3

SJC00

NOMESCO Finland

Bondable bracket or other fixed attachement

180.7

15.8

SJB60

NOMESCO Finland

Adjustment and grinding of removable appliance

6.4

15.7

EFB40

NOMESCO Finland

Removal of internal or external fixation device from facial bones

64.5

15.2

SJC03

NOMESCO Finland

Positioning and fixed attachment of brackets, extensive

6.5

14.7

SJC01

NOMESCO Finland

Positioning and fixed attachment of single bracket (Bracket with fixed attachment)

5.9

14.1

K07.24

ICD-10 Finland

Open bite

13.7

12.9

SJX11

NOMESCO Finland

Therapeutic intervention or check-up related to orthodontic treatment, restricted

4.7

12.7

K07.30

ICD-10 Finland

Spacing, abnormal of tooth or teeth

4.8

12.6

SXC05

NOMESCO Finland

Other oral or dental procedure

4.2

11.7

125

SXB00

NOMESCO Finland

Removal of sutures from oral mucosa

5.7

11.2

K08.1

ICD-10 Finland

Loss of teeth due to accident, extraction or local periodontal disease

5.5

10.4

SHA03

NOMESCO Finland

Stomatognathic treatment, demanding

8.3

10.0

SJC40

NOMESCO Finland

Removal of fixed orthodontic appliance with at most 6 brackets

4.4

9.9

SAA03

NOMESCO Finland

Extended examination of mouth

3.5

9.9

560

SJA03

NOMESCO Finland

Demanding workplan for orthodontic treatment

59.5

9.8

K00.00

ICD-10 Finland

Hypodontia

12.0

9.6

EBB15

NOMESCO Finland

Insertion of dental implant abutment

+∞

9.5

K07.04

ICD-10 Finland

Macrognathism (mandibular)(maxillary)

53.7

8.8

EBB10

NOMESCO Finland

Insertion of dental implant

53.7

8.8

WZC00

NOMESCO Finland

Treatment plan or consultation

3.0

8.7

413

SJC02

NOMESCO Finland

Positioning and fixed attachment of brackets

5.1

8.4

K07.18

ICD-10 Finland

Another anomaly in the relationship between jaw and skull base

+∞

8.4

EB1HA

NOMESCO Finland

Panorama tomography of teeth and jaws or similar X-ray examination

2.9

8.0

498

EB1BI

NOMESCO Finland

Cone beam imaging of teeth and jaws (1–2 quarters)

16.3

7.9

K07.1

ICD-10 Finland

Anomalies of jaw-cranial base relationship

47.9

7.8

AA3AI

NOMESCO Finland

Cone beam CT of facial bones

47.9

7.8

SPA00

NOMESCO Finland

Changing form of teeth in prepation for prosthodontic work

13.0

7.8

K07.10

ICD-10 Finland

Asymmetry of jaw

26.8

7.7

SJX21

NOMESCO Finland

Therapeutic intervention or check-up related to orthodontic treatment

3.9

7.4

SJA01

NOMESCO Finland

Assesment of orthodontic treatment need

31.9

7.2

ZXA10

NOMESCO Finland

Bilateral

3.1

6.8

127

SHA04

NOMESCO Finland

Stomatognathic treatment, very demanding

13.2

6.7

SHA02

NOMESCO Finland

Stomatognathic treatment, basic

3.7

6.5

SPA20

NOMESCO Finland

Selection and insertion of implant abutment

+∞

6.3

EBB11

NOMESCO Finland

Insertion of additional dental implant in one session

+∞

6.3

SJD50

NOMESCO Finland

Placement of prefabricated palatal or lingual arch, dentist-made

7.9

6.1

LabWAS

↥

N Cases

N Controls

-log₁₀(p)

cases

controls

cases

controls

unit

-log₁₀(p)

N cases

N controls

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

2.73

3.67

3.3

5.9

—

(3027238) Thyroperoxidase Ab [Units/volume] in Serum or Plasma

101

2.42

3.15

1.3

1.5

54.16

122.93

u/ml

1.55

(40760892) CBC W Ordered Manual Differential panel - Blood

294

1.81

2.51

5.1

5.4

—

(40761535) Cells panel - Urine sediment

2.61

2.36

4.7

3.4

—

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

248

1.82

2.36

2.0

2.3

0.72

1.16

mg/l

0.55

185

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

749

1.77

2.29

8.6

7.7

78.52

80.31

u/l

0.17

711

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

2.45

2.23

2.7

1.8

10.59

6.98

u/l

—

(3027831) CD3-CD16+CD56+ (Natural killer) cells/cells in Blood

5.15

2.09

1.6

3.1

14.20

10.80

—

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

2.85

1.97

1.8

1.6

—

(4034850) Laboratory test

3.30

1.91

7.3

9.7

—

(3024403) Complement+Immunoglobulin [Units/volume] in Red Blood Cells

3.44

1.77

1.0

1.7

—

(46236952) Glomerular filtration rate [Volume Rate/Area] in Serum, Plasma or Blood by Creatinine-based formula (MDRD)/1.73 sq M

2.30

1.73

1.3

2.9

99.83

83.85

ml/min/173m2

—

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

2.10

1.72

2.6

—

(3001604) Monocytes [#/volume] in Blood

624

1.57

1.72

8.1

7.0

0.53

0.54

e9/l

0.25

548

(3006315) Basophils [#/volume] in Blood

625

1.56

1.70

8.1

7.0

0.04

e9/l

0.41

549

(3013115) Eosinophils [#/volume] in Blood

646

1.56

1.68

8.6

7.2

0.17

0.19

e9/l

0.75

579

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

378

1.57

1.67

1.6

—

(3044640) Blood type and Crossmatch panel - Blood

324

1.59

1.67

3.4

2.4

—

(3021589) Normoblasts [#/volume] in Blood

566

1.51

10.1

9.3

0.00

e9/l

0.50

461

(40761536) Microorganisms panel - Urine sediment

1.93

1.49

1.6

3.4

—

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

697

1.52

1.48

10.3

8.9

3.82

3.83

e9/l

0.01

611

(3002256) Pathology report gross observation

104

1.85

1.46

1.3

1.2

—

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

101

887

1.61

1.46

5.6

4.0

14.78

14.55

pmol/l

0.47

816

(3000492) Spirometry study

120

1.79

1.44

1.5

—

(3025130) Human papilloma virus identified in Specimen

3.01

1.37

2.0

1.6

—

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

1.89

1.33

1.1

1.2

—

(3019198) Lymphocytes [#/volume] in Blood

645

1.47

1.33

8.2

6.9

1.91

2.01

e9/l

0.45

583

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

297

1.50

1.26

4.4

3.6

0.00

0.01

estimate

0.50

124

(3019150) Specific gravity of Urine by Refractometry

264

1.50

1.20

4.5

3.1

1.02

kg/l

0.70

168

(42870588) Differential panel, method unspecified - Blood

393

1.44

1.17

6.7

6.6

—

(3050238) Crystals [Presence] in Synovial fluid by Light microscopy

2.56

1.16

1.2

—

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

312

1.46

1.14

3.9

2.4

48.29

56.26

u/l

1.83

291

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

570

1.40

1.10

4.1

3.6

0.00

estimate

-0.00

131

(3022145) Colonoscopy Study observation

1.72

1.09

1.6

1.4

—

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

456

1.40

1.06

6.6

7.7

1.21

1.22

mmol/l

0.56

411

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

487

1.38

1.03

8.6

7.2

10.59

11.94

umol/l

0.47

465

(40766183) Gliadin peptide IgA Ab [Units/volume] in Serum by Immunoassay

0.00

0.99

0.0

1.1

—

2.70

—

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

256

1.44

0.99

4.5

3.6

—

(3025941) Bacteria identified in Stool by Culture

1.86

0.99

1.1

1.2

—

(3005322) IgE [Units/volume] in Serum or Plasma

102

1.65

0.96

1.2

1.3

57.79

514.52

u/ml

1.06

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

1.78

0.94

1.9

1.7

—

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

416

1.37

0.94

4.0

3.2

0.00

0.03

estimate

0.74

107

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

561

1.36

0.93

4.1

3.6

0.00

estimate

-0.00

134

(40758558) Short blood count panel - Blood

371

1.37

0.90

5.6

5.2

—

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

686

1.34

0.86

4.2

4.0

—

101.92

—

(3035933) Granulocytes/Leukocytes in Blood

1.92

0.83

5.0

3.8

54.25

55.16

—

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

0.00

0.80

0.0

1.2

—

2.88

—

(4268621) Lupus anticoagulant assay

0.00

0.80

0.0

2.1

—

(3002482) Mycoplasma pneumoniae DNA [Presence] in Specimen by NAA with probe detection

0.00

0.79

0.0

1.5

—

(3006184) Hemoglobin [Mass/volume] in Capillary blood

0.00

0.79

0.0

3.0

—

135.24

—

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

159

0.60

0.78

1.9

—

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

2.22

0.77

1.0

1.1

—

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

2.22

0.77

1.0

1.1

—

(3010566) Parathyrin.intact [Moles/volume] in Serum or Plasma

2.22

0.77

2.8

4.6

4.28

5.59

pmol/l

—

(3020682) Albumin/Creatinine [Ratio] in Urine

232

1.38

0.75

3.9

4.0

1.78

12.39

mg/mmol

1.85

160

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

223

1.39

0.75

2.3

2.4

—

(3048816) Calcium.ionized [Moles/volume] adjusted to pH 7.4 in Blood

1.72

0.74

2.9

4.1

1.22

mmol/l

—

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

188

1.41

0.73

2.0

2.3

—

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

316

1.33

0.73

2.7

3.1

291.05

32.86

ng/l

0.43

165

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

478

1.30

0.73

4.0

2.8

—

estimate

—

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

576

1.29

0.73

4.2

3.6

0.00

0.02

estimate

0.50

131

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

1.79

0.72

1.4

—

(3011288) Drugs identified in Urine by Screen method Nominal

104

1.50

0.66

1.3

1.9

—

(3013707) Erythrocyte sedimentation rate [Velocity] in Red Blood Cells by Westergren method

795

1.28

0.63

4.6

4.2

8.89

8.39

mm/h

0.19

752

(3025839) Triglyceride [Moles/volume] in Serum or Plasma

400

0.77

0.62

1.8

1.9

0.99

1.37

mmol/l

3.35

363

(3002032) Base excess in Venous blood by calculation

113

0.60

0.61

3.9

6.1

1.59

2.01

mmol/l

—

(3018095) Leukocytes [#/volume] in Urine

400

1.27

0.61

3.4

4.3

6.23

67.08

e6/l

1.04

269

(1616796) Gas panel - Central venous blood

0.00

0.61

0.0

5.3

—

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

0.00

0.61

0.0

1.1

—

20.12

—

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

0.00

0.60

0.0

1.6

—

(3025018) Bordetella pertussis Ab [Titer] in Serum

0.00

0.60

0.0

1.3

—

(3023511) Choriogonadotropin [Units/volume] in Urine

1.58

0.57

1.3

1.2

—

(36660697) Celiac disease serology panel - Serum

143

1.38

0.56

1.3

1.2

—

(3012516) Albumin [Mass/volume] in Urine

234

1.31

0.56

3.9

3.5

11.99

92.81

mg/l

2.30

164

(3000991) Gas panel - Venous blood

100

0.58

0.54

15.3

14.6

—

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

425

1.24

0.54

1.9

—

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

201

1.30

0.50

4.2

3.9

358.17

601.67

ng/l

0.77

171

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

315

1.24

0.47

2.2

2.5

—

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

112

1.38

0.47

4.7

2.5

7192.00

7002.04

u/l

—

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

0.57

0.47

6.8

6.7

24.74

24.18

mmol/l

—

(3009508) Creatinine [Moles/volume] in Urine

345

1.23

0.45

3.1

3.4

9.17

9.13

mmol/l

0.02

313

(1761868) Lipid panel - Serum or Plasma

453

1.21

0.43

2.7

2.5

—

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

1.46

0.43

1.3

1.5

—

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

1.40

0.42

1.3

1.9

—

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

0.00

0.41

0.0

1.9

—

(3013139) Helicobacter pylori Ag [Presence] in Stool

1.35

0.41

1.8

1.2

—

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

0.00

0.41

0.0

1.8

—

(3028369) Herpes simplex virus 1+2 DNA [Presence] in Specimen by NAA with probe detection

0.00

0.41

0.0

1.1

—

(44790049) Parainfluenza type 3 nucleic acid detection

0.00

0.40

0.0

1.2

—

(44790048) Parainfluenza type 2 nucleic acid detection

0.00

0.40

0.0

1.2

—

(44790047) Parainfluenza type 1 nucleic acid detection

0.00

0.40

0.0

1.2

—

(44806118) Parainfluenza type 4 nucleic acid detection

0.00

0.40

0.0

1.2

—

(3031478) Chlamydophila pneumoniae DNA [Presence] in Specimen by NAA with probe detection

0.00

0.39

0.0

1.6

—

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

0.00

0.39

0.0

1.2

—

234.21

—

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

111

0.70

0.39

1.5

1.7

—

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

111

0.70

0.39

1.5

1.6

—

(4035726) Immunohistochemistry procedure

1.37

0.39

1.6

—

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

1.33

0.38

1.7

—

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

209

1.24

0.37

1.4

1.3

20.52

18.59

iu/ml

—

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

107

1026

1.23

0.36

18.5

14.9

334.16

334.22

g/l

0.02

107

1019

(3013527) Hepatitis B virus core IgM Ab [Presence] in Serum

1.41

0.35

1.0

1.3

—

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

296

1.20

0.35

2.6

3.5

0.10

0.23

e6/l

1.08

211

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

1.38

0.35

1.2

—

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

306

1.20

0.35

1.6

1.8

—

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

240

1.21

0.34

3.5

2.5

—

(40768804) Tissue Pathology biopsy report

366

1.17

0.32

1.9

1.8

—

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

185

1.23

0.32

1.5

1.3

1.93

5.50

u/ml

1.34

(3012095) Magnesium [Moles/volume] in Serum or Plasma

157

1.25

0.32

9.6

6.4

0.84

0.81

mmol/l

0.82

149

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

339

1.17

0.30

2.1

2.7

—

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

949

1.18

0.30

4.1

3.7

—

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

112

1.28

0.30

1.4

1.8

—

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

106

1022

1.19

0.29

6.3

4.8

1.82

1.89

mu/l

0.28

100

973

(3015736) pH of Urine

457

1.15

0.29

4.1

3.2

6.20

6.29

0.24

234

(3023368) Bacteria identified in Blood by Culture

214

0.82

0.29

3.7

—

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

116

1128

1.25

0.28

15.6

12.1

21.89

20.99

mg/l

0.12

858

(3004410) Hemoglobin A1c/Hemoglobin.total in Blood

879

1.16

0.28

5.8

4.7

37.54

36.99

mmol/mol

0.22

841

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

0.69

0.27

1.8

1.9

—

(3033319) Streptococcus pyogenes Ag [Presence] in Throat

275

0.84

0.26

1.5

1.7

—

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

101

974

1.16

0.25

13.4

10.8

99.84

96.45

ml/min/173m2

0.79

861

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

373

1.14

0.25

2.3

1.8

103.58

96.82

pmol/l

0.38

197

(3000067) Parathyrin.intact [Mass/volume] in Serum or Plasma

0.73

0.25

1.7

5.4

65.50

63.89

ng/l

—

(21494755) Public health laboratory ask at order entry panel

134

1.22

0.24

1.3

—

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

1.36

0.24

2.0

4.6

33.56

51.17

—

(3013742) Prealbumin [Mass/volume] in Serum or Plasma

1.26

0.24

2.9

3.6

0.21

0.23

g/l

0.49

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

404

1.13

0.23

2.1

2.3

—

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

1.26

0.22

3.2

2.6

1.64

3.11

iu/l

—

(3001334) Neutrophil cytoplasmic Ab [Units/volume] in Serum

1.23

0.22

1.0

1.2

—

(3032080) INR in Blood by Coagulation assay

367

1.13

0.21

6.2

7.2

1.16

1.09

inr

0.45

309

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

0.00

0.21

0.0

2.0

—

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

0.00

0.21

0.0

2.0

—

(3003245) Complement C1 esterase inhibitor [Mass/volume] in Serum or Plasma

0.00

0.21

0.0

1.1

—

0.30

—

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

0.00

0.21

0.0

1.5

—

(42870560) Thyrotropin [Units/volume] in Cord blood

0.00

0.21

0.0

1.0

—

18.40

—

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

0.00

0.21

0.0

3.2

—

25.91

—

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

0.00

0.21

0.0

2.0

—

(3019420) Tryptase [Mass/volume] in Serum or Plasma

0.00

0.21

0.0

1.3

—

7.54

—

(3028531) Enolase.neuron specific [Mass/volume] in Serum or Plasma

0.00

0.21

0.0

4.4

—

14.54

—

(3023419) Bacteria identified in Sputum by Culture

0.00

0.21

0.0

7.8

—

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

0.00

0.21

0.0

1.1

—

20.88

—

(37020937) Giardia lamblia DNA [Presence] in Stool by NAA with probe detection

0.00

0.21

0.0

1.0

—

(3006598) pH of Arterial cord blood

0.00

0.21

0.0

1.0

—

(3038026) Centromere Ab [Units/volume] in Serum

0.00

0.21

0.0

1.2

—

(3049539) Genetic diseases [Identifier] in Blood or Tissue by FISH Nominal

0.00

0.21

0.0

1.5

—

(3037756) Immunofixation for Serum or Plasma

0.00

0.21

0.0

1.1

—

(3018418) pH of Serum or Plasma

270

1.14

0.21

3.3

3.4

7.40

7.39

0.54

190

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

0.00

0.21

0.0

18.0

—

719.42

—

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

0.00

0.21

0.0

28.0

—

1210.42

—

(42529201) Cancer Ag 19-9 [Units/volume] in Serum or Plasma by Immunoassay

0.00

0.21

0.0

3.2

—

37.33

—

(40768795) Lymph node Pathology biopsy report

0.00

0.21

0.0

1.2

—

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

0.00

0.21

0.0

2.0

—

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

0.00

0.21

0.0

1.1

—

1.29

—

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

1.26

0.20

2.7

2.1

10.27

10.66

ug/l

—

(3017918) Cytomegalovirus IgG Ab [Titer] in Serum or Plasma

1.26

0.20

1.2

1.5

—

(3012447) Hantavirus puumala IgG Ab [Titer] in Serum

0.00

0.20

0.0

1.0

—

(3008295) Osmolality of Serum or Plasma

0.00

0.20

0.0

1.5

—

288.56

—

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

194

1.16

0.20

2.5

3.2

0.56

0.70

e6/l

0.24

(46237023) Hepatitis B virus core and surface Ab and surface Ag panel - Serum

1.20

0.18

1.1

1.3

—

(3027944) Amphetamines [Presence] in Urine

148

1.17

0.18

1.5

1.7

—

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

1.16

0.18

4.7

4.3

88.71

95.25

—

(36032419) SARS-CoV-2 (COVID-19) Ag [Presence] in Upper respiratory specimen by Immunoassay

1.13

0.16

2.0

—

(3002582) Erythrocytes [#/volume] in Urine

344

1.11

0.16

3.0

3.5

8.83

29.18

e6/l

1.48

259

(3022313) Gas panel - Capillary blood

1.12

0.15

2.0

6.4

—

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

0.81

0.15

1.1

1.4

—

(40768797) Stomach Pathology biopsy report

122

1.17

0.14

1.5

1.3

—

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

180

0.87

0.14

2.4

3.3

2.36

2.29

e6/l

—

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

0.82

0.14

5.3

13.1

25.60

25.42

mmol/l

—

(3027008) Opiates [Presence] in Urine

151

1.14

0.14

1.5

1.6

—

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

132

1.15

0.14

1.4

1.6

—

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

109

0.81

0.13

1.0

—

(3028300) Cannabinoids [Presence] in Urine

152

1.14

0.13

1.5

1.6

—

(3041096) Erythrocytes [Presence] in Urine by Automated

328

1.09

0.12

2.7

2.8

0.00

estimate

-0.00

107

(3000494) Fungus identified in Specimen by Culture

134

1.13

0.11

2.5

1.8

—

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

212

1.10

0.11

1.8

1.6

—

(3006999) Ribonucleoprotein extractable nuclear Ab [Units/volume] in Serum

1.14

0.10

1.4

—

12.26

—

(3016921) Smith extractable nuclear Ab [Units/volume] in Serum

1.14

0.10

1.4

—

1.28

—

(3019832) Treponema pallidum Ab [Presence] in Serum

278

0.92

0.10

1.7

1.9

—

(3015635) Cytomegalovirus IgM Ab [Units/volume] in Serum or Plasma

1.04

0.09

1.4

1.5

—

(1002102) Choriogonadotropin.intact+Beta subunit [Mass/volume] in Serum or Plasma

1.14

0.09

1.3

1.5

77.83

48.01

ug/l

—

(3049207) Fetal Trisomy 21 risk [Likelihood] Based on maternal age

0.83

0.08

1.2

1.6

—

(3020321) Streptococcus agalactiae [Presence] in Vaginal fluid by Organism specific culture

1.08

0.08

1.9

1.7

—

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

0.81

0.08

1.2

1.6

68.73

54.26

ug/l

—

(4010399) Spirometry for bronchospasm with prolonged evaluation after bronchodilator

1.03

0.07

1.1

1.4

—

(3020779) Urea [Moles/volume] in Serum or Plasma

1.05

0.07

20.1

9.2

5.14

6.79

mmol/l

—

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

132

0.90

0.07

1.4

1.6

946.16

895.34

mu/l

0.11

116

(3048929) Epstein Barr virus Ab [Presence] in Serum

111

0.89

0.06

1.5

1.6

—

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

396

1.05

0.06

1.9

1.4

1.10

1.99

u/ml

0.35

(3026008) Bacteria identified in Urine by Culture

287

1.06

0.06

3.1

2.5

—

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

111

1.09

0.04

6.4

10.2

105.83

104.75

mmol/l

0.78

111

(3000850) Epithelial cells [#/volume] in Urine

230

1.05

0.04

3.0

2.7

5.95

6.90

e6/l

0.15

207

(3026782) Osmolality of Urine

186

0.96

0.00

2.2

2.8

620.72

568.19

mosm/kgh2o

0.31

164

(3007853) Bacteria identified in Skin by Aerobe culture

126

1.04

0.00

2.7

1.5

—

(3042936) Bacteria identified in Isolate by Culture

141

0.99

0.00

2.6

2.1

—

(3016879) Cocaine [Presence] in Urine

141

0.99

0.00

1.4

1.6

—

(3000764) Benzodiazepines [Presence] in Urine

149

1.01

0.00

1.6

1.7

—

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

147

1.02

0.00

5.6

4.5

23.40

21.09

—

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

177

1.02

0.00

2.4

1.5

—

(3013512) EKG study

257

1.01

0.00

3.7

3.0

—

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

337

1.01

0.00

2.8

2.9

—

0.33

—

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

356

1.02

0.00

1.6

1.5

1.77

2.09

g/l

0.83

212

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

125

0.96

0.00

1.4

1.6

—

(3045683) HLA typing for celiac disease panel - Blood or Tissue

0.00

0.0

1.0

—

(3043405) Microscopic observation [Identifier] in Specimen by Non-gynecological cytology method

0.00

0.0

1.7

—

(3037875) Bordetella parapertussis DNA [Presence] in Specimen by NAA with probe detection

0.00

-0.00

0.0

2.0

—

(3028433) Virus identified in Specimen by Culture

0.00

-0.00

0.0

1.8

—

(3018921) Toxoplasma gondii IgA Ab [Units/volume] in Serum

0.00

-0.00

0.0

1.0

—

(3003191) Choriogonadotropin [Presence] in Serum or Plasma

0.91

-0.00

3.4

1.8

—

(3035999) Lactate [Moles/volume] in Cerebral spinal fluid

0.00

-0.00

0.0

1.3

—

1.53

—

(3032699) Streptococcus pneumoniae DNA [Presence] in Specimen by NAA with probe detection

0.00

-0.00

0.0

2.1

—

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

0.00

-0.00

0.0

3.0

—

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

0.00

-0.00

0.0

2.7

—

(43055089) Myosin Ab [Presence] in Serum or Plasma by Immunoblot

0.00

-0.00

0.0

1.0

—

(3036185) Alkaline phosphatase.liver 2 [Enzymatic activity/volume] in Serum or Plasma

0.00

-0.00

0.0

1.2

—

4.34

—

(3029396) Erythrocyte agglutination [Presence] in Blood

0.00

-0.00

0.0

3.8

—

(3011547) Coagulation factor VII activity actual/normal in Platelet poor plasma by Coagulation assay

0.00

-0.00

0.0

1.0

—

91.40

—

(40764127) Haemophilus influenzae DNA [Presence] in Specimen by NAA with probe detection

0.00

-0.00

0.0

2.0

—

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

0.00

-0.00

0.0

1.0

—

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

0.00

-0.00

0.0

1.1

—

13.86

—

(1617658) Protocol used for examination of sentinel lymph nodes

0.00

-0.00

0.0

1.0

—

(40768800) Prostate Pathology biopsy report

0.00

-0.00

0.0

1.3

—

(3008898) HLA-B27 [Presence]

1.00

-0.00

1.0

1.1

—

(3017817) Protein [Mass] in Urine collected for unspecified duration

0.00

-0.00

0.0

2.6

—

1245.40

—

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

0.00

-0.00

0.0

3.0

—

(3035062) Alkaline phosphatase.liver 1 [Enzymatic activity/volume] in Serum or Plasma

0.00

-0.00

0.0

1.2

—

54.22

—

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

0.00

-0.00

0.0

1.2

—

(3006462) Nitrate [Presence] in Urine

0.00

-0.00

0.0

1.5

—

(42529200) Cancer Ag 15-3 [Units/volume] in Serum or Plasma by Immunoassay

0.00

-0.00

0.0

8.2

—

196.94

—

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

0.00

-0.00

0.0

1.2

—

(3022229) Phosphate [Moles/volume] in Urine

0.00

-0.00

0.0

1.8

—

20.91

—

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

0.00

-0.00

0.0

1.0

—

(36306090) Helicobacter pylori [Presence] in Tissue by Organism specific culture

0.00

-0.00

0.0

1.2

—

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

0.00

-0.00

0.0

1.2

—

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

0.00

-0.00

0.0

1.2

—

(42870298) TPMT gene c.238G>C+460G>A+719A>G [Identifier] in Blood or Tissue by Molecular genetics method Narrative

0.00

-0.00

0.0

1.0

—

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

0.00

-0.00

0.0

2.7

—

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

0.00

-0.00

0.0

3.0

—

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

0.00

-0.00

0.0

1.0

—

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

0.00

-0.00

0.0

1.0

—

0.06

—

(3017766) Complement C4 [Mass/volume] in Serum or Plasma

1.02

-0.00

1.4

1.9

0.20

0.23

g/l

—

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

0.00

-0.00

0.0

2.7

—

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

0.00

-0.00

0.0

1.0

—

133.95

—

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

0.00

-0.00

0.0

1.0

—

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

0.00

-0.00

0.0

1.4

—

(40760543) Extractable nuclear Ab [Presence] in Serum by Immunoblot

0.00

-0.00

0.0

1.1

—

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

0.00

-0.00

0.0

1.4

—

(4211845) Urine protein measurement

0.00

-0.00

0.0

1.5

—

(3032700) Glomerular basement membrane Ab [Units/volume] in Serum

0.00

-0.00

0.0

1.0

—

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

0.00

-0.00

0.0

2.7

—

(3022058) Hepatitis B virus DNA [Presence] in Serum or Plasma by NAA with probe detection

0.00

-0.00

0.0

1.6

—

(3027953) Aldolase [Enzymatic activity/volume] in Serum or Plasma

0.00

-0.00

0.0

1.7

—

13.16

—

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

0.00

-0.00

0.0

1.0

—

(3027544) Mycobacterium sp identified in Sputum by Organism specific culture

0.00

-0.00

0.0

3.6

—

(42529528) Centromere protein B Ab [Units/volume] in Serum by Line blot

0.00

-0.00

0.0

1.3

—

(42869547) Procollagen type III.N-terminal propeptide [Mass/volume] in Serum

0.00

-0.00

0.0

1.0

—

6.97

—

(40768446) Kidney Pathology biopsy report

0.00

-0.00

0.0

2.2

—

(3044242) Glucose [Moles/volume] in Arterial blood

0.00

-0.00

0.0

1.6

—

8.86

—

(3034426) Prothrombin time (PT)

0.00

-0.00

0.0

1.0

—

27.00

—

Mortality – FinRegistry

↥

Association

Association between endpoint K11_MAXIL_HYPOPL and mortality.

Females

No data

Males

No data

Mortality risk

Mortality risk for people of age

years, who have K11_MAXIL_HYPOPL.

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

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Index endpoint: K11_MAXIL_HYPOPL – Maxillary hypoplasia

GWS hits: 1

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

Maxillary hypoplasia

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