Congenital ichthyosis

Q17_CONGEN_ICHTHYOSIS

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 — Q80 Cause of death: ICD-10 — Q80 2 out of 7 registries used, show all original rules.	116
4. Check minimum number of events None	116
5. Include endpoints None	116
6. Filter based on genotype QC (FinnGen only)	112

Control definitions (FinnGen only)

Control exclude: Q17_OTHER_CONGEN_MALFO

Extra metadata

Level in the ICD hierarchy: 3
First used in FinnGen datafreeze: DF4
Parent code in ICD-10: Q8
Name in latin: Ichthyosis congenita

NAME	Q17_CONGEN_ICHTHYOSIS
CONTROL_EXCLUDE	Q17_OTHER_CONGEN_MALFO
CONTROL_PRECONDITIONS
CONTROL_CONDITIONS
SEX
INCLUDE
PRE_CONDITIONS
CONDITIONS
OUTPAT_ICD
OUTPAT_OPER
HD_MAINONLY
HD_ICD_10_ATC
HD_ICD_10	Q80
HD_ICD_9
HD_ICD_8
HD_ICD_10_EXCL
HD_ICD_9_EXCL
HD_ICD_8_EXCL
COD_MAINONLY
COD_ICD_10	Q80
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 ichthyosis 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	1177	430	744
Only index persons	1017	379	638
Unadjusted period prevalence (%)
Whole population	0.02	0.01	0.02
Only index persons	0.02	0.01	0.02
Median age at first event (years)
Whole population	19.16	24.30	16.03
Only index persons	20.43	25.76	17.26

-FinnGen-

Key figures

	All	Female	Male
Number of individuals	112	56	56
Unadjusted period prevalence (%)	0.02	0.02	0.03
Median age at first event (years)	35.99	38.68	33.30

-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
113: Matched controls
1130

Code

Vocabulary

Description

Odds Ratio

-log₁₀(p)

N matched cases

N matched controls

D02AE01

ATC

carbamide; topical

24.1

60.6

Q80.9

ICD-10 Finland

Congenital ichthyosis, unspecified

697.2

48.1

Q80.0

ICD-10 Finland

Ichthyosis vulgaris

+∞

47.2

E000006, ,

ATC

19.8

39.1

Q80.8

ICD-10 Finland

Other congenital ichthyosis

+∞

27.2

E000001, ,

ATC

7.1

24.5

156

E0000UV, ,

ATC

8.6

23.3

354

Q80.1

ICD-10 Finland

X-linked ichthyosis

+∞

22.7

TQX10

NOMESCO Finland

Biopsy of skin and subcutaneous tissue

10.3

21.9

E000002, ,

ATC

7.3

20.0

Q80.2

ICD-10 Finland

Lamellar ichthyosis

+∞

18.2

D05BB02

ATC

acitretin; oral

25.0

13.9

75720

ICD-8 Finland

Congenital anomalies of skin, hair and nails, Iethyosis congenita

+∞

12.7

E000003, ,

ATC

12.2

12.7

D07AB08

ATC

desonide; topical

5.2

11.6

134

Kela drug reimbursment

General erythroderma

120.8

10.6

Q80.3

ICD-10 Finland

Congenital bullous ichthyosiform erythroderma

+∞

10.6

Z31.5

ICD-10 Finland

Genetic counselling

7.6

9.0

D02AX

ATC

Other emollients and protectives

9.8

8.7

G80.1

ICD-10 Finland

Spastic diplegic cerebral palsy

+∞

8.4

G80.2

ICD-10 Finland

Spastic hemiplegic cerebral palsy

+∞

8.4

TQW80

NOMESCO Finland

Local dermatologic skincare

13.2

7.8

E000007, ,

ATC

6.5

7.1

Z01.5

ICD-10 Finland

Diagnostic skin and sensitization tests

4.2

6.5

D07AB02

ATC

hydrocortisone butyrate; topical

2.8

6.2

210

D07XC01

ATC

betamethasone; topical

3.8

6.1

LabWAS

↥

N Cases

N Controls

-log₁₀(p)

cases

controls

cases

controls

unit

-log₁₀(p)

N cases

N controls

(40768443) Skin Pathology biopsy report

4.83

7.03

1.2

1.4

—

(3000494) Fungus identified in Specimen by Culture

115

3.05

5.69

1.5

1.4

—

(3007853) Bacteria identified in Skin by Aerobe culture

115

2.91

5.13

2.8

1.7

—

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

441

2.36

4.69

12.7

8.1

1.20

1.21

mmol/l

1.12

387

(42870588) Differential panel, method unspecified - Blood

325

2.11

3.66

12.2

8.7

—

(40758558) Short blood count panel - Blood

277

2.11

3.55

7.8

7.7

—

(3042936) Bacteria identified in Isolate by Culture

135

2.31

3.25

3.3

2.0

—

(3013115) Eosinophils [#/volume] in Blood

526

2.02

3.15

11.7

8.8

0.23

0.19

e9/l

0.89

470

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

4.11

3.06

1.7

22.88

24.40

mmol/l

—

(3021440) Promyelocytes/Leukocytes in Blood

2.56

2.93

9.8

5.6

0.00

0.14

—

(3018418) pH of Serum or Plasma

261

1.97

2.87

7.0

3.7

7.40

7.39

1.73

178

(3018095) Leukocytes [#/volume] in Urine

339

1.92

2.86

5.8

3.9

41.83

76.04

e6/l

0.51

227

(3017181) Myelocytes/Leukocytes in Blood

2.45

2.83

9.3

5.3

0.57

0.87

—

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

752

2.20

2.75

5.6

4.0

14.55

14.80

pmol/l

0.43

689

(3029080) Hemoglobin [Entitic mass] in Reticulocytes

6.26

2.73

3.3

1.9

30.17

31.90

—

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

731

2.14

2.71

6.0

4.3

12.28

9.81

mm/h

0.79

679

(36305247) Microscopic observation [Identifier] in Isolate by Gram stain

4.22

2.62

3.1

1.4

—

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

7.40

2.57

1.0

—

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

2.66

2.56

2.9

1.8

—

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

716

2.04

2.53

13.6

8.4

89.69

83.93

u/l

0.40

673

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

4.02

2.51

1.4

1.6

—

(3002179) Metamyelocytes/Leukocytes in Blood

2.36

2.51

9.6

5.4

0.17

0.48

—

(3025159) Blasts/Leukocytes in Blood

2.36

2.51

9.8

5.9

0.00

0.38

—

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

135

2.09

2.47

13.6

6.6

1.16

1.11

mmol/l

0.31

126

(3021952) Alkaline phosphatase isoenzymes [Enzymatic activity/volume] in Serum or Plasma by Heat stability

5.21

2.43

2.3

1.4

—

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

6.47

2.39

1.0

1.1

—

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

3.66

2.32

2.5

2.9

—

(3002582) Erythrocytes [#/volume] in Urine

300

1.76

2.15

4.6

3.1

16.02

47.48

e6/l

1.12

220

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

5.17

2.09

1.4

1.1

—

(3010421) pH of Blood

3.66

2.09

6.7

2.4

7.39

7.43

—

(3016251) Hemoglobin.gastrointestinal [Presence] in Stool

2.97

2.05

2.1

—

(3049717) Cytology report of Urine Cyto stain

3.48

2.00

2.6

2.2

—

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

146

1.91

1.99

8.1

4.4

0.78

0.82

mmol/l

0.99

139

(3026008) Bacteria identified in Urine by Culture

237

1.76

1.96

3.3

2.9

—

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

3.90

1.96

4.3

2.4

14.58

9.21

pmol/l

—

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

132

1.93

1.92

3.2

2.0

—

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

268

1.70

1.81

2.5

1.6

2.41

2.34

g/l

0.10

157

(3013512) EKG study

286

1.68

1.80

3.0

3.5

—

(3002256) Pathology report gross observation

2.02

1.78

1.4

1.1

—

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

2.63

1.78

1.4

—

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

0.00

1.75

0.0

1.1

—

0.91

—

(3019550) Sodium [Moles/volume] in Serum or Plasma

104

945

2.26

1.70

29.9

15.7

140.05

139.60

mmol/l

1.38

104

927

(3023103) Potassium [Moles/volume] in Serum or Plasma

104

945

2.26

1.70

30.1

15.8

3.97

3.95

mmol/l

0.27

104

925

(3019250) Coagulation factor VIII activity actual/normal in Platelet poor plasma by Coagulation assay

2.70

1.69

2.4

3.7

151.13

171.81

—

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

3.27

1.68

3.5

1.4

—

(4035726) Immunohistochemistry procedure

2.14

1.67

2.9

1.2

—

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

310

1.62

1.64

4.6

3.3

—

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

1.98

1.55

5.8

3.5

10.85

10.22

g/l

0.31

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

0.00

1.54

0.0

1.1

—

1.57

—

(3011831) Apolipoprotein B/Apolipoprotein A-I [Percentile]

0.00

1.54

0.0

1.1

—

0.61

—

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

886

1.95

1.53

6.7

5.0

2.28

1.87

mu/l

2.12

818

(3021589) Normoblasts [#/volume] in Blood

437

1.56

1.51

20.6

12.2

0.00

e9/l

0.50

357

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

254

1.61

1.48

5.2

3.0

0.35

0.20

e6/l

0.31

176

(3008909) Norovirus RNA [Presence] in Stool by NAA with probe detection

2.60

1.48

1.9

1.4

—

(40768804) Tissue Pathology biopsy report

336

1.56

1.46

3.1

1.9

—

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

3.22

1.45

1.2

1.3

—

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

3.22

1.45

4.0

1.8

—

(3021901) Oxygen saturation in Capillary blood

3.22

1.45

1.4

1.6

87.54

92.13

—

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

302

1.56

1.40

1.6

1.5

5.01

1.74

u/ml

—

(3037467) Urinalysis macro (dipstick) panel - Urine

631

1.56

1.40

6.6

4.2

—

(3009343) pH of Capillary blood

2.08

1.38

3.0

3.5

7.39

7.42

1.01

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

3.03

1.37

1.2

—

(3021788) Differential panel - Synovial fluid

3.03

1.37

2.2

1.3

—

(3023520) Reticulocytes [#/volume] in Blood

1.91

1.35

3.8

4.2

57.63

72.71

e9/l

—

(3023368) Bacteria identified in Blood by Culture

233

1.59

1.34

10.3

4.7

—

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

2.11

1.32

11.0

3.6

1.22

1.23

mmol/l

0.20

(3033319) Streptococcus pyogenes Ag [Presence] in Throat

166

0.50

1.32

1.7

1.8

—

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

2.13

1.30

9.7

12.5

23.96

24.74

mmol/l

—

(3022313) Gas panel - Capillary blood

2.13

1.30

3.7

3.6

—

(3020630) Protein [Mass/volume] in Serum or Plasma

1.97

1.30

4.7

2.4

63.94

67.38

g/l

0.72

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

2.86

1.30

1.2

1.3

—

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

2.38

1.30

2.9

3.4

93.63

92.66

—

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

1.84

1.29

3.8

2.0

—

(3044640) Blood type and Crossmatch panel - Blood

289

1.53

1.28

3.3

2.6

—

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

1.91

1.28

6.8

3.4

—

(3028026) IgM [Mass/volume] in Serum or Plasma

1.94

1.25

4.7

2.1

0.80

1.20

g/l

1.25

(3000991) Gas panel - Venous blood

1.82

1.25

11.2

9.2

—

(3002032) Base excess in Venous blood by calculation

110

1.76

1.24

7.6

7.5

1.84

1.26

mmol/l

0.48

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

1.80

1.21

3.5

2.0

—

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

2.38

1.20

2.2

1.6

—

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

2.38

1.20

4.0

1.6

—

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

2.38

1.20

1.8

1.2

—

(3019977) pH of Arterial blood

1.86

1.19

11.6

10.1

7.41

7.43

—

(3007220) Creatine kinase [Enzymatic activity/volume] in Serum or Plasma

285

1.50

1.17

3.1

2.2

172.71

224.63

u/l

0.32

274

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

2.57

1.16

4.4

1.6

—

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

214

1.55

1.16

3.4

2.8

—

(3015736) pH of Urine

418

1.45

1.13

5.1

3.2

5.98

6.19

0.76

226

(3007844) Epstein Barr virus capsid IgM Ab [Units/volume] in Serum by Immunoassay

2.34

1.12

1.4

1.3

—

(3009508) Creatinine [Moles/volume] in Urine

306

1.48

1.12

3.8

3.4

7.68

8.00

mmol/l

0.18

267

(3020682) Albumin/Creatinine [Ratio] in Urine

252

1.50

1.10

4.7

4.4

13.47

10.38

mg/mmol

0.10

159

(3020059) Calcium [Moles/volume] corrected for albumin in Serum or Plasma

157

1.58

1.07

2.7

2.4

2.47

2.43

mmol/l

0.64

137

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

422

1.43

1.06

4.1

3.1

—

estimate

—

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

201

1.52

1.05

2.1

1.43

1.07

mg/l

0.42

153

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

520

1.43

1.05

6.1

3.6

0.00

estimate

-0.00

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

116

1.66

1.04

1.4

1.6

—

(3044941) Cell count panel - Synovial fluid

2.33

1.04

1.8

1.2

—

(3012110) Lysozyme [Mass/volume] in Serum or Plasma

2.33

1.04

1.0

1.5

16.78

10.98

mg/l

—

(3035933) Granulocytes/Leukocytes in Blood

2.33

1.04

7.0

2.6

64.82

57.75

—

(3006217) Methemoglobin/Hemoglobin.total in Arterial blood

1.95

1.03

14.0

12.8

0.62

0.65

—

(3012516) Albumin [Mass/volume] in Urine

247

1.47

1.02

4.2

3.8

64.26

66.25

mg/l

0.01

161

(3008401) Mugwort IgE Ab [Units/volume] in Serum

2.06

1.02

1.3

1.0

3.26

0.75

u/ml

—

(3028653) Carboxyhemoglobin/Hemoglobin.total in Arterial blood

1.91

1.01

14.8

12.7

1.20

1.46

—

(3003888) Timothy IgE Ab [Units/volume] in Serum

2.01

0.99

1.3

1.0

3.59

9.15

u/ml

—

(36660697) Celiac disease serology panel - Serum

118

1.62

0.98

1.3

1.2

—

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

401

1.39

0.92

2.4

1.9

1.23

1.41

mmol/l

0.92

338

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

154

1.53

0.92

3.0

1.24

2.23

e6/l

0.55

(3004410) Hemoglobin A1c/Hemoglobin.total in Blood

851

1.52

0.91

7.7

5.6

38.81

38.46

mmol/mol

0.13

803

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

510

1.38

0.89

5.5

3.5

0.00

estimate

-0.00

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

1.84

0.86

7.4

4.6

65.80

54.05

—

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

1.77

0.86

2.5

2.1

17.15

4.48

ug/l

0.43

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

166

1.48

0.84

2.9

2.8

0.83

0.89

e6/l

0.08

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

1.70

0.82

6.6

8.6

23.92

24.03

mmol/l

0.05

(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

1.72

0.80

1.5

1.7

—

(3042194) Human metapneumovirus RNA [Presence] in Specimen by NAA with probe detection

2.23

0.77

4.0

1.8

—

(3023511) Choriogonadotropin [Units/volume] in Urine

2.23

0.77

2.4

1.5

—

(3003191) Choriogonadotropin [Presence] in Serum or Plasma

1.90

0.75

2.6

1.9

—

(3040853) Adenovirus DNA [Identifier] in Specimen by NAA with probe detection

2.04

0.73

4.4

1.8

—

(36304419) Bacteria [Presence] in Urine

253

1.37

0.72

4.8

2.9

—

estimate

—

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

513

1.31

0.70

5.6

3.6

99.07

0.00

estimate

0.48

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

753

0.76

0.70

3.6

3.4

—

(3019060) Gas panel - Arterial blood

1.71

0.70

8.4

5.1

—

(3025941) Bacteria identified in Stool by Culture

1.67

0.67

1.6

1.3

—

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

165

1.41

0.67

8.4

3.1

26.94

66.61

ng/l

0.94

111

(3000492) Spirometry study

105

0.55

0.65

1.7

1.4

—

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

371

1.30

0.64

2.1

1.9

100.31

94.53

pmol/l

0.54

183

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

114

1.47

0.63

12.6

10.7

103.38

104.06

mmol/l

0.30

114

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

1.70

0.62

2.0

1.3

—

(3003740) Influenza virus B Ag [Presence] in Specimen

0.00

0.60

0.0

1.2

—

(3002523) Influenza virus A Ag [Presence] in Specimen

0.00

0.60

0.0

1.2

—

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

0.00

0.60

0.0

1.1

—

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

895

1.39

0.57

22.3

12.6

89.55

88.65

ml/min/173m2

0.11

810

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

127

1.40

0.53

2.6

1.4

889.57

1219.32

nmol/l

1.22

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

1.44

0.53

2.0

1.3

—

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

1.52

0.53

11.0

13.5

24.09

25.59

mmol/l

0.80

(1761868) Lipid panel - Serum or Plasma

400

0.79

0.52

3.2

2.9

—

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

1.48

0.52

1.2

1.0

—

(3000764) Benzodiazepines [Presence] in Urine

0.60

0.48

2.4

1.7

—

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

1.49

0.46

10.0

3.9

207.30

78.19

ng/l

—

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

1.49

0.44

1.5

1.3

—

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

1.49

0.44

3.9

3.7

4.76

4.62

pmol/l

—

(3024889) Methemoglobin/Hemoglobin.total in Venous blood

1.43

0.43

5.4

9.1

0.63

0.59

—

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

1.59

0.43

2.0

1.9

—

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

1.54

0.42

2.2

2.1

—

(3020891) Body temperature

1.54

0.42

16.6

5.6

37.24

36.99

°c

—

(3023410) Appearance of Cerebral spinal fluid

0.00

0.41

0.0

4.5

—

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

0.00

0.41

0.0

1.1

—

1.40

—

(40768797) Stomach Pathology biopsy report

115

1.35

0.41

1.2

—

(3003265) Liver kidney microsomal Ab [Titer] in Serum by Immunofluorescence

0.00

0.41

0.0

1.1

—

(3048689) Calprotectin [Mass/mass] in Stool

170

1.29

0.41

4.9

2.5

247.87

105.71

ug/g

0.71

141

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

0.00

0.41

0.0

3.5

—

59.76

—

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

0.00

0.41

0.0

1.4

—

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

135

0.72

0.39

1.5

—

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

1.41

0.38

1.0

1.1

—

(3016879) Cocaine [Presence] in Urine

0.64

0.37

2.4

1.7

—

(3028300) Cannabinoids [Presence] in Urine

0.61

0.37

2.4

1.7

—

(3027944) Amphetamines [Presence] in Urine

0.61

0.37

2.4

1.7

—

(3027008) Opiates [Presence] in Urine

0.61

0.37

2.4

1.7

—

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

100

965

1.32

0.35

30.1

14.3

19.26

22.67

mg/l

0.74

742

(3008898) HLA-B27 [Presence]

1.32

0.31

1.1

—

(3004588) Protein electrophoresis panel - Serum or Plasma

1.29

0.30

6.6

1.9

—

(40760892) CBC W Ordered Manual Differential panel - Blood

237

1.18

0.26

11.1

5.6

—

(40761536) Microorganisms panel - Urine sediment

1.25

0.26

8.4

3.0

—

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

105

1.27

0.26

4.2

4.8

31.86

32.14

—

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

1.33

0.23

1.2

1.1

—

3.90

—

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

0.72

0.23

1.1

1.9

—

(44806420) Estimation of glomerular filtration rate

0.00

0.21

0.0

1.7

—

(3006922) Hepatitis E virus Ab [Presence] in Serum

0.00

0.21

0.0

1.0

—

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

0.00

0.21

0.0

1.1

—

(4146454) Self-monitoring of blood glucose

0.00

0.21

0.0

3.3

—

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

0.00

0.21

0.0

1.3

—

18.32

—

(3000093) Morphology [Interpretation] in Blood Narrative

0.00

0.21

0.0

1.2

—

(3000963) Hemoglobin [Mass/volume] in Blood

106

1071

0.83

0.18

40.7

21.7

133.42

137.89

g/l

2.28

106

1059

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

194

0.85

0.18

1.9

2.3

—

(3009542) Hematocrit [Volume Fraction] of Blood by calculation

106

1070

0.85

0.18

41.2

22.2

39.66

41.17

1.93

106

1058

(3035941) MCH [Entitic mass]

106

1070

0.85

0.18

40.2

21.4

29.98

30.19

0.72

106

1059

(3013139) Helicobacter pylori Ag [Presence] in Stool

1.16

0.18

1.3

1.1

—

(3024731) MCV [Entitic mean volume] in Red Blood Cells

106

1069

0.86

0.18

40.3

21.5

89.84

90.17

0.31

106

1058

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

177

1.16

0.18

1.6

1.4

20.48

7.46

u/ml

—

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

294

1.12

0.17

1.5

—

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

296

1.11

0.15

2.4

2.2

—

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

0.79

0.14

11.0

6.2

—

(3020564) Creatinine [Moles/volume] in Serum or Plasma

104

1021

1.23

0.13

31.5

17.0

88.10

75.04

umol/l

0.79

104

1006

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

210

0.89

0.13

1.9

2.5

—

(3041096) Erythrocytes [Presence] in Urine by Automated

298

1.10

0.13

4.9

2.8

0.00

estimate

—

(40761511) CBC panel - Blood by Automated count

997

0.87

0.12

24.8

11.7

—

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

192

1.12

0.12

4.1

4.0

32.16

22.58

0.59

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

193

1.11

0.11

1.8

1.4

15.38

25.62

iu/ml

—

(1002224) Polysomnography panel

1.10

0.09

1.0

1.1

—

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

333

1.07

0.09

5.1

3.2

24.70

34.33

ng/l

0.38

207

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

0.77

0.08

2.4

1.6

—

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

273

0.94

0.06

6.5

3.5

0.00

estimate

-0.00

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

387

1.05

0.05

5.6

3.4

0.00

estimate

-0.00

(3022145) Colonoscopy Study observation

110

0.90

0.05

2.0

1.4

—

(3019150) Specific gravity of Urine by Refractometry

241

1.05

0.03

6.2

3.7

1.02

kg/l

0.20

152

(3003031) Transferrin.carbohydrate deficient.disialo/Transferrin.total in Serum or Plasma

158

0.94

0.02

2.1

1.8

1.45

1.42

0.07

143

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

248

0.96

0.02

1.7

1.8

—

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

116

0.94

0.01

1.8

2.3

—

(3019832) Treponema pallidum Ab [Presence] in Serum

166

0.96

0.00

1.7

2.0

—

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

102

0.98

0.00

1.7

2.2

—

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

225

0.97

0.00

2.5

1.8

—

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

185

1.03

0.00

2.5

1.7

—

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

0.00

0.0

2.0

—

(3000034) Microalbumin [Mass/volume] in Urine

0.00

0.0

3.8

—

28.40

—

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

0.00

0.0

1.0

—

(3034988) Calcium [Moles/volume] in Capillary blood

0.00

0.0

1.6

—

1.19

—

(3028433) Virus identified in Specimen by Culture

0.00

0.0

1.4

—

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

0.00

0.0

2.0

—

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

0.00

0.0

1.6

—

71.40

—

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

0.00

0.0

3.0

—

67.60

—

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

0.00

0.0

2.0

—

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

0.00

0.0

1.0

—

44.16

—

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

0.00

0.0

1.2

—

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

0.00

0.0

10.4

—

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

0.00

0.0

1.0

—

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

0.00

0.0

1.4

—

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

0.00

0.0

1.0

—

(42868499) Enterovirus IgG Ab [Presence] in Cerebral spinal fluid by Immunoassay

0.00

0.0

1.2

—

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

0.00

0.0

3.0

—

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

0.00

0.0

3.2

—

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

0.00

0.0

2.0

—

(3038769) Chlamydophila pneumoniae IgG Ab [Units/volume] in Serum by Immunoassay

0.00

0.0

1.2

—

25.30

—

(3014043) Spermatozoa Nonprogressive/Spermatozoa in Semen

0.00

-0.00

0.0

8.0

—

8.78

—

(3044927) Protein electrophoresis panel - Urine

0.00

-0.00

0.0

1.2

—

(3002619) Bacteria identified in Specimen by Culture

0.00

-0.00

0.0

1.3

—

(3029023) Hepatitis E virus IgG Ab [Presence] in Serum by Immunoassay

0.00

-0.00

0.0

1.0

—

(40768800) Prostate Pathology biopsy report

0.00

-0.00

0.0

1.7

—

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

0.00

-0.00

0.0

1.2

—

(3002385) Erythrocyte [DistWidth] in Red Blood Cells

820

1.00

-0.00

30.9

18.7

13.57

13.36

0.85

814

(3051651) Icteric interference index of Serum or Plasma

0.00

-0.00

0.0

1.6

—

1.00

—

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

0.93

-0.00

5.5

1.9

18.47

22.05

iu/l

—

(4198724) Urine methamphetamine measurement

0.00

-0.00

0.0

3.7

—

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

0.00

-0.00

0.0

1.3

—

(3011288) Drugs identified in Urine by Screen method Nominal

1.02

-0.00

1.7

1.9

—

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

0.00

-0.00

0.0

1.3

—

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

0.00

-0.00

0.0

3.3

—

1172.25

—

(3005757) Coagulation factor V activity actual/normal in Platelet poor plasma by Coagulation assay

0.00

-0.00

0.0

1.4

—

107.29

—

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

0.00

-0.00

0.0

1.0

—

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

1.00

-0.00

1.4

1.5

—

(3029075) Extractable nuclear Ab panel - Serum

0.00

-0.00

0.0

1.1

—

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

0.00

-0.00

0.0

1.2

—

(40761995) Spermatozoa Progressive [#/volume] in Semen

0.00

-0.00

0.0

4.0

—

37.78

—

(3002222) Hepatitis E virus IgM Ab [Presence] in Serum

0.00

-0.00

0.0

1.0

—

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

0.00

-0.00

0.0

1.4

—

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

1.00

-0.00

1.0

1.6

—

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

0.00

-0.00

0.0

1.4

—

(3015024) Glucose [Moles/volume] in Serum or Plasma --1 hour post dose glucose

0.00

-0.00

0.0

2.0

—

7.38

—

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

0.00

-0.00

0.0

1.3

—

(40758292) HTLV I+II Ab panel - Serum

0.00

-0.00

0.0

1.3

—

(37208534) Antinuclear antibody arbitrary concentration in serum

0.00

-0.00

0.0

1.0

—

(44816808) CXCL13 Ag [Mass/volume] in Cerebral spinal fluid

0.00

-0.00

0.0

1.0

—

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

0.00

-0.00

0.0

1.1

—

Mortality – FinRegistry

↥

Association

Association between endpoint Q17_CONGEN_ICHTHYOSIS and mortality.

Females

Parameter	HR [95% CI]	p-value
Q17_CONGEN_ICHTHYOSIS	2.725 [1.83, 4.05]	< 0.001
Birth year	0.999 [0.99, 1.01]	0.719

During the follow-up period (1.1.1998 — 31.12.2019), 56 out of 389 females with Q17_CONGEN_ICHTHYOSIS died.

Males

Parameter	HR [95% CI]	p-value
Q17_CONGEN_ICHTHYOSIS	2.096 [1.48, 2.97]	< 0.001
Birth year	0.987 [0.98, 1.0]	0.009

During the follow-up period (1.1.1998 — 31.12.2019), 86 out of 677 males with Q17_CONGEN_ICHTHYOSIS died.

Mortality risk

Mortality risk for people of age

years, who have Q17_CONGEN_ICHTHYOSIS.

N-year risk	Females	Males
1	0.288%	0.393%
5	1.607%	2.023%
10	3.991%	5.884%
15	8.222%	11.596%
20	14.303%	19.161%

Relationships between endpoints

↥

Index endpoint: Q17_CONGEN_ICHTHYOSIS – Congenital ichthyosis

GWS hits: 2

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 ichthyosis

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