Congenital malformations of ear causing impairment of hearing

Q17_CONGEN_MALFO_EAR_CAUSI_IMPAIRM_HEARING

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: Hospital discharge: ICD-10 — Q16 Cause of death: ICD-10 — Q16 2 out of 7 registries used, show all original rules.	136
4. Check minimum number of events None	136
5. Include endpoints None	136
6. Filter based on genotype QC (FinnGen only)	131

Control definitions (FinnGen only)

Control exclude: Q17_CONGEN_MALFO_EYE_EAR_FACE_NECK

Extra metadata

Level in the ICD hierarchy: 3
First used in FinnGen datafreeze: DF4
Parent code in ICD-10: Q1
Name in latin: Malformationes congenitae auris cum hypacusi

NAME	Q17_CONGEN_MALFO_EAR_CAUSI_IMPAIRM_HEARING
CONTROL_EXCLUDE	Q17_CONGEN_MALFO_EYE_EAR_FACE_NECK
CONTROL_PRECONDITIONS
CONTROL_CONDITIONS
SEX
INCLUDE
PRE_CONDITIONS
CONDITIONS
OUTPAT_ICD
OUTPAT_OPER
HD_MAINONLY
HD_ICD_10_ATC
HD_ICD_10	Q16
HD_ICD_9
HD_ICD_8
HD_ICD_10_EXCL
HD_ICD_9_EXCL
HD_ICD_8_EXCL
COD_MAINONLY
COD_ICD_10	Q16
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 Congenital malformations of ear causing impairment of hearing based on the number of shared cases.

Similar with more cases:

Similar with less cases:

Congenital absence, occlusion, or narrowing of the ear canal

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	1650	742	906
Only index persons	1416	646	770
Unadjusted period prevalence (%)
Whole population	0.02	0.02	0.03
Only index persons	0.03	0.02	0.03
Median age at first event (years)
Whole population	11.63	13.91	9.73
Only index persons	14.11	16.09	12.45

-FinnGen-

Key figures

	All	Female	Male
Number of individuals	131	76	55
Unadjusted period prevalence (%)	0.03	0.03	0.03
Median age at first event (years)	27.60	22.78	34.25

-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
133: Matched controls
1330

Code

Vocabulary

Description

Odds Ratio

-log₁₀(p)

N matched cases

N matched controls

Q16.1

ICD-10 Finland

Congenital absence, atresia and stricture of auditory canal (external)

+∞

83.3

UDC00

NOMESCO Finland

Ear microscopy

14.4

42.6

Q17.2

ICD-10 Finland

Microtia

+∞

39.6

H90.1

ICD-10 Finland

Conductive hearing loss, unilateral with unrestricted hearing on the contralateral side

97.5

38.6

DFF00

NOMESCO Finland

Pure tone audiometry

11.2

36.1

Z01.1

ICD-10 Finland

Examination of ears and hearing

9.3

34.1

Q16.0

ICD-10 Finland

Congenital absence of (ear) auricle

+∞

32.7

Q16.3

ICD-10 Finland

Congenital malformation of ear ossicles

+∞

30.4

H90.6

ICD-10 Finland

Mixed conductive and sensorineural hearing loss, bilateral

59.5

28.0

H90.3

ICD-10 Finland

Sensorineural hearing loss, bilateral

7.8

25.5

H90.0

ICD-10 Finland

Conductive hearing loss, bilateral

152.5

24.5

DBD20

NOMESCO Finland

Plastic repair of external auditory canal

145.1

23.4

DC1AD

NOMESCO Finland

Temporalbone CT

58.0

21.0

H90.7

ICD-10 Finland

Mixed conductive and sensorineural hearing loss, unilateral with unrestricted hearing on the contralateral side

77.7

18.3

DAD10

NOMESCO Finland

Reconstruction of auricle

+∞

18.1

DAX00

NOMESCO Finland

Adjustment or review of hearing aid

13.3

15.9

R5110

NOMESCO Finland

Evaluation of the need for aids, the testing, fitting and choice of the aid, instruction in use and delivery of it

6.0

15.2

DDA00

NOMESCO Finland

Stapedotomy

83.6

13.9

DBD30

NOMESCO Finland

Correction of atresia of external auditory canal

+∞

13.8

DEE00

NOMESCO Finland

Osseous fixation of hearing aid

+∞

12.7

Q16.9

ICD-10 Finland

Congenital malformation of ear causing impairment of hearing, unspecified

+∞

12.7

Z97.4

ICD-10 Finland

Presence of external hearing-aid

20.6

12.4

ZXA00

NOMESCO Finland

Right side

3.8

10.9

154

Q16.4

ICD-10 Finland

Other congenital malformations of middle ear

+∞

10.6

ZXC10

NOMESCO Finland

Use of laser

18.6

10.1

ZXD10

NOMESCO Finland

Scheduled procedure

3.2

9.9

306

R5130

NOMESCO Finland

Repair work or maintenance done on the aid

19.3

9.6

ZZG00

NOMESCO Finland

Graft of cartilage

107.3

9.5

DCD10

NOMESCO Finland

Tympanoplasty

+∞

9.5

Z3229

NOMESCO Finland

Other healthcare associate professional

5.0

9.3

Q67.0

ICD-10 Finland

Facial asymmetry

95.9

8.5

DAD30

NOMESCO Finland

Plastic repair of auricle

+∞

8.4

DFF15

NOMESCO Finland

Speech audiometry

8.9

7.9

ZXA05

NOMESCO Finland

Left side

3.2

7.5

144

H61.3

ICD-10 Finland

Acquired stenosis of external ear canal

84.6

7.5

R5140

NOMESCO Finland

Monitoring the use of the aid

4.3

7.4

DDD05

NOMESCO Finland

Plastic repair of ossicular chain

+∞

7.4

DAX08

NOMESCO Finland

Fitting of hearing aid

7.4

7.1

7440A

ICD-9 Finland

Congenital anomalies of ear, face and neck, Anomalies of ear causing impairment of hearing[ATRESIA AURIS]

+∞

6.3

Q16.2

ICD-10 Finland

Absence of eustachian tube

+∞

6.3

LabWAS

↥

N Cases

N Controls

-log₁₀(p)

cases

controls

cases

controls

unit

-log₁₀(p)

N cases

N controls

(3007853) Bacteria identified in Skin by Aerobe culture

132

2.64

4.73

2.1

1.6

—

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

3.52

2.66

1.1

1.6

—

(3000494) Fungus identified in Specimen by Culture

135

1.95

2.09

1.6

1.4

—

(46235759) Influenza virus B RNA [Presence] in Nasopharynx by NAA with probe detection

2.64

2.07

1.4

2.4

—

(21493466) Plesiomonas shigelloides DNA [Presence] in Stool by NAA with non-probe detection

4.68

1.96

1.0

2.3

—

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

4.28

1.84

2.0

1.3

97.80

124.50

pmol/l

—

(3025468) Yersinia sp identified in Specimen by Organism specific culture

4.28

1.84

1.0

2.2

—

(3005988) Vibrio sp identified in Specimen by Organism specific culture

4.28

1.84

1.0

2.2

—

(3012568) Campylobacter sp identified in Specimen by Organism specific culture

3.95

1.73

1.0

2.1

—

(42868716) Shigella species+EIEC invasion plasmid antigen H ipaH gene [Presence] in Stool by NAA with probe detection

3.95

1.73

1.0

2.1

—

(3024522) Salmonella sp identified in Specimen by Organism specific culture

3.95

1.73

1.0

2.1

—

(42868674) Cholesterol in HDL/Cholesterol.total [Molar ratio] in Serum or Plasma

114

1.89

1.68

3.8

4.6

36.21

32.37

0.72

(3049717) Cytology report of Urine Cyto stain

2.90

1.67

2.0

1.9

—

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

182

1.68

1.53

1.6

1.8

—

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

3.20

1.45

1.6

—

(3013139) Helicobacter pylori Ag [Presence] in Stool

2.01

1.39

1.2

1.3

—

(3044640) Blood type and Crossmatch panel - Blood

382

1.49

1.38

1.9

2.5

—

(3010421) pH of Blood

2.68

1.38

3.7

2.9

7.42

7.41

—

(3037756) Immunofixation for Serum or Plasma

2.84

1.29

2.0

2.1

—

(3004588) Protein electrophoresis panel - Serum or Plasma

2.05

1.26

5.7

3.4

—

(3002582) Erythrocytes [#/volume] in Urine

389

0.65

1.24

3.8

3.2

74.33

29.19

e6/l

0.62

300

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

154

0.49

1.23

2.0

5.3

3.38

7.73

umol/l

—

131

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

2.69

1.22

1.6

1.7

—

(3023368) Bacteria identified in Blood by Culture

272

1.50

1.21

4.4

—

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

2.56

1.16

1.2

1.0

—

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

0.00

1.16

0.0

1.3

—

(3022313) Gas panel - Capillary blood

1.84

1.11

2.7

5.9

—

(3013512) EKG study

305

1.45

1.09

3.4

3.5

—

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

223

0.58

1.09

1.9

1.5

—

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

265

0.63

1.02

3.7

2.4

7.69

5.60

e6/l

0.33

243

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

0.00

0.97

0.0

2.6

—

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

0.00

0.80

0.0

1.2

—

3.32

—

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

185

1.43

0.79

2.2

2.3

—

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

434

0.74

0.78

1.7

—

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

0.00

0.78

0.0

1.8

—

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

1.63

0.78

4.2

5.5

1.61

1.59

mmol/l

—

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

2.22

0.77

2.0

2.5

—

(36304419) Bacteria [Presence] in Urine

324

0.72

0.74

3.5

3.1

—

estimate

—

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

1.62

0.73

2.1

1.8

—

(40761511) CBC panel - Blood by Automated count

126

1213

1.74

0.72

14.5

11.6

—

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

1.96

0.71

1.4

1.1

—

(40761536) Microorganisms panel - Urine sediment

0.52

0.70

5.2

3.2

—

(3044254) Respiratory syncytial virus RNA [Presence] in Specimen by NAA with probe detection

1.70

0.69

1.6

2.1

—

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

1.70

0.69

1.4

1.3

—

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

1.88

0.69

1.8

1.5

—

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

236

1.35

0.68

3.8

4.1

3186.19

825.30

ng/l

0.50

198

(3018095) Leukocytes [#/volume] in Urine

445

0.77

0.65

3.4

4.0

19.68

33.66

e6/l

0.61

312

(3036481) Cortisol [Moles/volume] in Serum or Plasma

139

0.62

0.64

1.3

2.6

428.67

372.87

nmol/l

—

130

(3002148) Methylenedioxymethamphetamine [Presence] in Urine by Screen method

1.75

0.64

1.2

1.3

—

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

212

1.34

0.62

1.3

1.81

7.12

u/ml

1.30

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

921

0.79

0.62

4.5

4.4

14.48

14.56

pmol/l

0.11

851

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

438

1.27

0.61

2.1

1.9

96.12

96.29

pmol/l

0.01

236

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

315

0.75

0.61

5.4

3.9

0.00

estimate

—

121

(3026782) Osmolality of Urine

217

0.70

0.61

2.5

2.7

515.00

539.03

mosm/kgh2o

0.14

191

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

1.58

0.61

1.5

1.6

—

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

0.00

0.61

0.0

1.2

—

(40759850) Jo-1 extractable nuclear Ab [Presence] in Serum by Immunoblot

0.00

0.61

0.0

1.1

—

(3008295) Osmolality of Serum or Plasma

0.00

0.60

0.0

1.9

—

283.54

—

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

1.61

0.60

1.1

2.0

—

(3000093) Morphology [Interpretation] in Blood Narrative

0.00

0.60

0.0

1.1

—

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

1.48

0.59

1.7

—

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

1.46

0.57

2.2

3.2

—

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

280

1.29

0.56

1.9

2.6

—

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

216

1.31

0.55

2.4

1.6

—

(3016502) Oxygen saturation in Arterial blood

0.61

0.54

20.8

9.6

97.57

96.46

—

(3016879) Cocaine [Presence] in Urine

118

1.40

0.53

1.7

1.6

—

(3019150) Specific gravity of Urine by Refractometry

265

1.27

0.51

4.1

3.8

1.02

kg/l

0.57

166

(3027801) Oxygen [Partial pressure] in Arterial blood

108

0.63

0.51

18.1

8.8

16.03

14.01

kpa

—

102

(3027946) Carbon dioxide [Partial pressure] in Arterial blood

108

0.63

0.51

18.1

8.8

5.43

5.13

kpa

—

102

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

109

1039

1.27

0.44

11.4

12.4

92.97

91.79

ml/min/173m2

0.17

928

(3021960) Folate [Moles/volume] in Serum or Plasma

289

1.24

0.44

1.9

1.6

21.84

19.86

nmol/l

0.24

251

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

0.61

0.44

1.0

1.6

—

(3013115) Eosinophils [#/volume] in Blood

640

1.20

0.43

5.7

7.6

0.22

0.19

e9/l

0.63

561

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

332

0.80

0.43

3.4

3.1

0.49

0.29

e6/l

0.34

247

(3022145) Colonoscopy Study observation

114

1.36

0.43

1.3

1.4

—

(3012516) Albumin [Mass/volume] in Urine

279

0.79

0.43

5.4

3.5

74.68

94.99

mg/l

0.16

181

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

132

1.33

0.43

2.0

1.5

—

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

310

0.80

0.42

2.9

2.6

—

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

214

0.76

0.42

2.9

3.1

0.91

0.77

e6/l

—

113

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

0.00

0.41

0.0

1.5

—

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

0.00

0.41

0.0

1.1

—

(3018333) Ribosomal P Ab [Presence] in Serum

0.00

0.41

0.0

1.1

—

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

0.00

0.41

0.0

1.4

—

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

104

0.66

0.41

1.0

1.1

—

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

1.35

0.41

1.3

—

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

0.00

0.41

0.0

1.1

—

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

0.00

0.41

0.0

1.1

—

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

0.00

0.41

0.0

1.2

—

(3003181) Sodium [Moles/volume] in Urine

0.00

0.40

0.0

2.2

—

57.00

—

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

0.00

0.40

0.0

1.1

—

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

0.00

0.40

0.0

1.1

—

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

168

0.75

0.38

1.6

996.05

894.82

mu/l

0.23

143

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

1.35

0.37

4.6

8.0

—

(3020682) Albumin/Creatinine [Ratio] in Urine

284

0.81

0.36

5.7

4.1

10.91

13.63

mg/mmol

0.13

175

(3016251) Hemoglobin.gastrointestinal [Presence] in Stool

1.41

0.35

2.0

—

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

262

0.81

0.35

2.0

2.4

0.39

1.44

mg/l

1.87

198

(3042936) Bacteria identified in Isolate by Culture

155

1.26

0.35

3.1

2.0

—

(3027008) Opiates [Presence] in Urine

128

1.28

0.34

1.7

1.5

—

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

396

0.84

0.33

3.1

3.6

—

(3042206) Streptococcus agalactiae Ag [Presence] in Vaginal fluid

1.32

0.33

1.0

1.2

—

(3033319) Streptococcus pyogenes Ag [Presence] in Throat

249

0.81

0.32

1.4

1.7

—

(42870588) Differential panel, method unspecified - Blood

395

1.17

0.32

5.5

7.0

—

(3028300) Cannabinoids [Presence] in Urine

129

1.27

0.32

1.8

1.5

—

(3027944) Amphetamines [Presence] in Urine

129

1.27

0.32

1.7

1.5

—

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

157

1.25

0.31

2.0

2.2

—

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

223

1.21

0.31

1.4

1.3

17.85

21.23

iu/ml

0.17

(3006315) Basophils [#/volume] in Blood

613

1.15

0.31

5.9

7.4

0.04

e9/l

0.38

525

(3001604) Monocytes [#/volume] in Blood

613

1.15

0.31

5.8

7.4

0.58

0.56

e9/l

0.24

527

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

586

0.87

0.30

4.9

6.9

10.41

11.54

umol/l

0.51

554

(3001308) Cholesterol in LDL [Moles/volume] in Serum or Plasma

105

1087

0.84

0.30

5.3

4.9

2.80

2.72

mmol/l

0.39

100

1020

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

664

1.15

0.30

7.1

5.4

7.11

6.43

mmol/l

0.81

604

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

952

0.86

0.30

3.2

3.7

—

(4024509) Urine culture

1.24

0.29

3.0

1.6

—

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

1.24

0.29

1.4

1.3

—

(3023602) Cholesterol in HDL [Moles/volume] in Serum or Plasma

104

1076

0.85

0.28

4.7

4.3

1.46

1.45

mmol/l

0.16

1007

(3011288) Drugs identified in Urine by Screen method Nominal

1.30

0.27

2.2

1.9

—

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

0.66

0.26

2.0

1.6

—

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

191

0.82

0.26

2.6

3.3

1.80

2.52

e6/l

—

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

698

1.14

0.26

9.0

10.8

4.28

4.14

e9/l

0.16

606

(3019198) Lymphocytes [#/volume] in Blood

638

1.13

0.26

5.9

7.3

1.77

1.92

e9/l

0.87

566

(3047352) Trisomy 18 risk [Likelihood] in Fetus

0.73

0.25

1.2

1.5

—

(3003191) Choriogonadotropin [Presence] in Serum or Plasma

0.73

0.25

2.5

1.7

—

(3021589) Normoblasts [#/volume] in Blood

569

0.89

0.24

9.5

10.4

0.00

e9/l

0.49

456

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

178

0.82

0.23

21.1

7.7

1.11

1.10

mmol/l

0.05

165

(3015235) Bicarbonate [Moles/volume] in Capillary blood

1.33

0.23

5.0

2.2

22.94

24.12

mmol/l

—

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

201

1.17

0.23

3.3

3.2

339.20

345.98

ng/l

0.01

129

(3018418) pH of Serum or Plasma

312

0.87

0.22

2.7

4.0

7.39

0.05

214

(3000764) Benzodiazepines [Presence] in Urine

126

1.21

0.22

1.7

1.5

—

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

445

0.89

0.22

3.7

3.6

0.00

estimate

—

106

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

0.00

0.21

0.0

1.0

—

(4198724) Urine methamphetamine measurement

0.00

0.21

0.0

2.0

—

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

0.00

0.21

0.0

1.0

—

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

0.00

0.21

0.0

5.5

—

0.96

—

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

0.00

0.21

0.0

1.0

—

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

0.00

0.21

0.0

2.5

—

2.40

—

(36305771) Cryptosporidium sp DNA [Presence] in Stool by NAA with probe detection

0.00

0.21

0.0

1.0

—

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

0.00

0.21

0.0

1.2

—

1.61

—

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

0.00

0.21

0.0

1.4

—

15.86

—

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

0.00

0.21

0.0

1.0

—

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

0.00

0.21

0.0

1.0

—

(46235128) Lupus anticoagulant aPTT and dRVVT screening panel W Reflex

0.00

0.21

0.0

1.3

—

(3045716) Anion gap in Serum or Plasma by calculation

0.00

0.21

0.0

1.8

—

9.80

—

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

0.00

0.21

0.0

1.1

—

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

0.00

0.21

0.0

1.2

—

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

0.00

0.21

0.0

1.1

—

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

0.00

0.21

0.0

1.2

—

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

0.00

0.21

0.0

1.3

—

(37208534) Antinuclear antibody arbitrary concentration in serum

0.00

0.21

0.0

1.2

—

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

0.00

0.21

0.0

6.2

—

115.30

—

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

0.00

0.21

0.0

1.2

—

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

0.00

0.21

0.0

1.2

—

158.88

—

(3004616) Nuclear Ab [Presence] in Serum

0.00

0.21

0.0

1.0

—

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

0.00

0.21

0.0

1.0

—

0.38

—

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

112

0.79

0.21

1.3

3.8

0.28

0.22

g/l

—

106

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

0.00

0.21

0.0

1.1

—

0.20

—

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

0.00

0.21

0.0

1.2

—

(3041806) Other cells [#/volume] in Blood by Manual count

0.00

0.21

0.0

1.7

—

0.48

—

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

0.00

0.21

0.0

1.0

—

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

119

1165

1.20

0.21

16.4

13.8

28.66

21.81

mg/l

0.85

906

(3011960) Natriuretic peptide B [Mass/volume] in Serum or Plasma

1.23

0.20

2.5

2.7

74.67

154.24

ng/l

—

(3008757) Leukocyte morphology finding [Identifier] in Blood

0.00

0.20

0.0

5.1

—

(3016914) Bacteria identified in Cerebral spinal fluid by Culture

0.00

0.20

0.0

1.2

—

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

0.00

0.20

0.0

1.1

—

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

0.00

0.20

0.0

1.0

—

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

0.00

0.20

0.0

1.1

—

(21494755) Public health laboratory ask at order entry panel

137

1.19

0.20

1.0

1.2

—

(3048773) Triglyceride [Moles/volume] in Serum or Plasma --fasting

1010

0.89

0.20

4.2

3.8

1.36

1.26

mmol/l

0.38

932

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

129

1.18

0.18

1.8

1.5

—

(3036489) Thrombin time

0.74

0.17

4.4

3.6

20.80

20.84

—

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

107

1045

1.12

0.16

4.5

4.1

5.94

5.70

mmol/l

0.61

966

(3026989) Triiodothyronine (T3) Free [Moles/volume] in Serum or Plasma

0.79

0.16

2.3

3.8

4.10

4.83

pmol/l

—

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

284

0.89

0.15

2.7

2.4

—

(3014111) Lactate [Moles/volume] in Serum or Plasma

0.78

0.15

24.9

10.6

1.34

1.21

mmol/l

—

(3032080) INR in Blood by Coagulation assay

454

1.09

0.14

12.0

9.8

1.26

1.15

inr

0.60

372

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

277

1.11

0.14

3.7

4.0

—

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

337

1.09

0.13

1.8

—

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

1.19

0.12

1.3

—

(3002256) Pathology report gross observation

133

1.14

0.12

1.1

1.2

—

(40768797) Stomach Pathology biopsy report

134

1.13

0.11

1.3

1.2

—

(3048689) Calprotectin [Mass/mass] in Stool

203

1.10

0.10

3.3

3.2

80.99

82.46

ug/g

0.01

149

(40768443) Skin Pathology biopsy report

1.14

0.10

1.6

1.2

—

(3045424) Erythrocytes [Presence] in Urine

1.12

0.10

4.0

1.7

—

0.00

estimate

—

(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

1.14

0.09

1.0

1.5

—

(36660697) Celiac disease serology panel - Serum

154

0.90

0.08

1.1

1.2

—

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

0.83

0.08

1.0

1.2

1.06

0.85

g/l

—

(1761868) Lipid panel - Serum or Plasma

468

0.94

0.08

2.5

2.8

—

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

1.13

0.08

13.7

11.4

24.03

24.74

mmol/l

0.26

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

106

1075

0.93

0.07

5.0

5.3

1.86

1.83

mu/l

0.10

1012

(4035726) Immunohistochemistry procedure

0.86

0.07

1.1

1.5

—

(3016888) Borrelia burgdorferi IgG Ab [Units/volume] in Serum

0.87

0.07

1.0

1.4

—

27.62

—

(3043238) Trisomy 21 risk [Likelihood] in Fetus

0.83

0.07

1.1

1.7

—

(3003785) Carcinoembryonic Ag [Mass/volume] in Serum or Plasma

0.87

0.07

1.4

4.4

2.40

11.76

ug/l

—

(3025159) Blasts/Leukocytes in Blood

0.86

0.07

1.4

4.8

—

0.05

—

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

375

1.06

0.06

1.6

1.8

—

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

514

0.96

0.05

11.6

8.4

1.21

mmol/l

0.22

456

(3009508) Creatinine [Moles/volume] in Urine

363

0.95

0.05

3.9

3.7

8.64

8.54

mmol/l

0.04

317

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

110

0.90

0.05

1.4

1.5

—

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

607

1.04

0.05

3.7

0.00

estimate

—

127

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

321

0.96

0.04

2.3

2.7

2.58

2.57

mg/l

0.01

280

(40768804) Tissue Pathology biopsy report

409

1.04

0.04

1.9

—

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

350

1.04

0.03

1.4

1.6

2.49

2.04

g/l

0.39

208

(3015736) pH of Urine

490

1.03

0.03

3.7

3.5

6.09

6.27

0.64

260

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

540

1.03

0.03

2.7

3.0

—

estimate

—

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

750

1.03

0.03

4.4

4.3

—

129.13

—

(3026008) Bacteria identified in Urine by Culture

319

0.96

0.02

3.3

2.7

—

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

148

0.94

0.02

2.4

2.0

—

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

359

0.97

0.02

4.7

3.8

21.95

40.86

ng/l

0.87

227

(40758558) Short blood count panel - Blood

379

0.97

0.02

4.2

7.0

—

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

137

0.94

0.01

10.7

8.7

105.54

103.80

mmol/l

0.62

137

(40760892) CBC W Ordered Manual Differential panel - Blood

293

1.03

0.01

4.0

4.9

—

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

843

1.02

0.01

3.5

4.5

9.27

9.89

mm/h

0.19

786

(3037467) Urinalysis macro (dipstick) panel - Urine

777

0.98

0.01

4.5

4.2

—

(3000991) Gas panel - Venous blood

116

0.94

0.01

17.6

12.1

—

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

416

0.98

0.00

2.4

2.2

—

(3044889) 12 lead EKG panel

724

1.02

0.00

3.3

3.4

—

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

124

0.96

0.00

2.3

1.6

—

(3000492) Spirometry study

134

0.97

0.00

1.1

1.4

—

(3005013) Prostate Specific Ag Free [Mass/volume] in Serum or Plasma

146

1.03

0.00

4.2

2.7

0.88

0.71

ug/l

—

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

199

1.01

0.00

4.0

4.1

20.62

24.11

—

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

388

1.01

0.00

1.3

1.5

0.73

1.66

u/ml

1.02

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

451

1.00

0.00

1.7

1.8

1.40

1.39

mmol/l

0.04

393

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

356

1.02

0.00

2.4

2.9

—

0.40

—

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

616

1.01

0.00

3.7

3.8

0.00

estimate

—

119

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

604

0.99

0.00

3.7

0.00

estimate

—

129

(3007695) Herpes simplex virus 2 IgG Ab [Presence] in Cerebral spinal fluid

0.00

0.0

1.0

—

(3031072) Herpes simplex virus 1 IgG Ab [Presence] in Cerebral spinal fluid

0.00

0.0

1.0

—

(3036071) Salmonella sp Ab [Titer] in Serum

0.00

0.0

1.2

—

(40760847) Basement membrane Ab [Titer] in Serum by Immunofluorescence

0.00

0.0

1.7

—

(3028433) Virus identified in Specimen by Culture

0.00

0.0

1.4

—

(43055514) Macroprolactin [Presence] in Serum or Plasma

0.00

-0.00

0.0

1.0

—

(40758895) Direct antiglobulin test.complement C3d specific reagent [Presence] on Red Blood Cells

0.00

-0.00

0.0

4.8

—

(40765096) Chromosome analysis panel by Banding

0.00

-0.00

0.0

1.4

—

(3006270) Folate [Moles/volume] in Blood

0.00

-0.00

0.0

1.4

—

463.00

—

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

0.86

-0.00

1.0

1.2

1.46

1.59

g/l

—

(3022411) Androstenedione [Moles/volume] in Serum or Plasma

0.00

-0.00

0.0

1.0

—

5.82

—

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

0.00

-0.00

0.0

2.0

—

6.14

—

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

0.00

-0.00

0.0

1.0

—

(40758897) Direct antiglobulin test.IgG specific reagent [Presence] on Red Blood Cells

0.00

-0.00

0.0

4.8

—

(3020650) Glucose [Presence] in Urine

0.00

-0.00

0.0

1.2

—

0.00

—

(4010399) Spirometry for bronchospasm with prolonged evaluation after bronchodilator

0.94

-0.00

2.1

1.4

—

(40771527) Human papilloma virus E6+E7 mRNA [Presence] in Cervix by NAA with probe detection

0.00

-0.00

0.0

1.8

—

(3010375) cycloSPORINE [Mass/volume] in Blood

0.00

-0.00

0.0

60.8

—

143.75

—

(40768446) Kidney Pathology biopsy report

0.00

-0.00

0.0

1.2

—

(3017569) Oxygen content in Arterial blood

0.00

-0.00

0.0

1.2

—

18.35

—

(4146454) Self-monitoring of blood glucose

0.00

-0.00

0.0

4.4

—

(3032567) Hepatitis B virus DNA [Units/volume] (viral load) in Serum or Plasma by NAA with probe detection

0.00

-0.00

0.0

3.6

—

(42529598) SUMO-activating enzyme subunit 1 Ab [Presence] in Serum by Line blot

0.00

-0.00

0.0

1.0

—

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

0.00

-0.00

0.0

1.3

—

(44806071) Cardiolipin IgM antibody measurement

0.00

-0.00

0.0

1.2

—

(3008898) HLA-B27 [Presence]

0.92

-0.00

1.0

—

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

0.98

-0.00

7.4

24.78

24.13

mmol/l

—

(3005791) Eosinophil cationic protein (ECP) [Mass/volume] in Serum

0.00

-0.00

0.0

1.8

—

14.10

—

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

0.00

-0.00

0.0

1.0

—

4.27

—

(3024932) HLA-DR beta [Type]

0.00

-0.00

0.0

1.2

—

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

0.00

-0.00

0.0

7.2

—

(3013637) Mi-2 Ab [Presence] in Serum

0.00

-0.00

0.0

1.0

—

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

0.00

-0.00

0.0

23.4

—

10.43

—

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

0.00

-0.00

0.0

2.1

—

9.43

—

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

0.84

-0.00

3.4

1.6

—

(3034426) Prothrombin time (PT)

0.00

-0.00

0.0

1.1

—

26.00

—

(42529582) MDA5 Ab [Presence] in Serum by Line blot

0.00

-0.00

0.0

1.0

—

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

0.00

-0.00

0.0

1.0

—

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

0.86

-0.00

2.0

1.5

33.76

56.24

ug/l

—

(3025941) Bacteria identified in Stool by Culture

1.02

-0.00

1.3

1.2

—

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

0.00

-0.00

0.0

1.4

—

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

0.89

-0.00

1.4

1.6

—

(3019832) Treponema pallidum Ab [Presence] in Serum

290

1.00

-0.00

1.6

1.9

—

(3030366) Cystatin C [Mass/volume] in Serum or Plasma

0.87

-0.00

6.0

11.8

1.65

1.11

mg/l

—

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

0.00

-0.00

0.0

1.0

—

6.33

—

(3011363) Streptococcus pneumoniae Ag [Presence] in Urine

0.00

-0.00

0.0

1.0

—

(3020911) Cortisol [Moles/time] in 24 hour Urine

0.00

-0.00

0.0

1.6

—

53.60

—

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

1.00

-0.00

1.6

1.1

—

(3022803) Oxygen [Partial pressure] adjusted to patient's actual temperature in Arterial blood

0.00

-0.00

0.0

4.8

—

10.66

—

(3024471) HLA-A [Type]

0.00

-0.00

0.0

1.0

—

(3010517) Carboxyhemoglobin/Hemoglobin.total in Venous blood

0.95

-0.00

6.8

4.6

1.07

1.43

—

(3045156) Carbon dioxide [Partial pressure] adjusted to patient's actual temperature in Arterial blood

0.00

-0.00

0.0

4.8

—

4.53

—

(40765089) Chromosome analysis panel - Blood by G-banded

0.00

-0.00

0.0

1.0

—

(3004410) Hemoglobin A1c/Hemoglobin.total in Blood

980

1.00

-0.00

6.8

5.3

39.34

38.06

mmol/mol

0.56

926

(40768806) Pleura Pathology biopsy report

0.00

-0.00

0.0

1.0

—

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

0.00

-0.00

0.0

1.1

—

(3004451) EKG impression Narrative

0.00

-0.00

0.0

1.0

—

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

1.02

-0.00

1.9

1.8

8.56

7.11

u/l

—

(3023511) Choriogonadotropin [Units/volume] in Urine

0.93

-0.00

1.3

—

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

0.00

-0.00

0.0

1.0

—

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

0.00

-0.00

0.0

1.0

—

1961.25

—

(40757349) CD3+CD4+ (T4 helper) cells/CD3+CD8+ (T8 suppressor cells) cells [# Ratio] in Blood

0.00

-0.00

0.0

1.5

—

1.13

—

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

0.00

-0.00

0.0

1.0

—

(3034368) Herpes virus 6 IgM Ab [Presence] in Cerebral spinal fluid

0.00

-0.00

0.0

1.0

—

(3024889) Methemoglobin/Hemoglobin.total in Venous blood

0.97

-0.00

5.8

4.6

0.63

0.65

—

(3042733) HLA Ab [Presence] in Serum

0.00

-0.00

0.0

1.8

—

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

1.00

-0.00

1.2

1.4

—

(3016436) Lactate dehydrogenase [Enzymatic activity/volume] in Serum or Plasma

0.00

-0.00

0.0

1.6

—

163.60

—

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

0.00

-0.00

0.0

1.0

—

47.30

—

(40758292) HTLV I+II Ab panel - Serum

0.00

-0.00

0.0

1.6

—

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

0.00

-0.00

0.0

1.3

—

(44816752) ERBB2 gene copy number/nucleus in Tissue by FISH

0.00

-0.00

0.0

1.0

—

(3028286) Albumin [Mass/volume] in Serum or Plasma by Electrophoresis

0.00

-0.00

0.0

2.3

—

40.78

—

(3030136) 5-Hydroxyindoleacetate [Moles/volume] in Serum or Plasma

0.00

-0.00

0.0

2.7

—

293.83

—

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

0.00

-0.00

0.0

6.2

—

(3051651) Icteric interference index of Serum or Plasma

0.00

-0.00

0.0

2.8

—

0.75

—

(42528593) TIF1-gamma Ab [Presence] in Serum by Line blot

0.00

-0.00

0.0

1.0

—

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

0.00

-0.00

0.0

2.3

—

70.75

—

Mortality – FinRegistry

↥

Association

Association between endpoint Q17_CONGEN_MALFO_EAR_CAUSI_IMPAIRM_HEARING and mortality.

Females

No data

Males

No data

Mortality risk

Mortality risk for people of age

years, who have Q17_CONGEN_MALFO_EAR_CAUSI_IMPAIRM_HEARING.

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_CONGEN_MALFO_EAR_CAUSI_IMPAIRM_HEARING – Congenital malformations of ear causing impairment of hearing

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

Congenital malformations of ear causing impairment of hearing

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