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	519972
1. Apply sex-specific rule None	519972
2. Check conditions None	519972
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.	112
4. Check minimum number of events None	112
5. Include endpoints None	112
6. Filter based on genotype QC (FinnGen only)	111

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	111	56	55
Unadjusted period prevalence (%)	0.02	0.02	0.03
Median age at first event (years)	36.75	38.68	34.78

-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
112: Matched controls
1120

Code

Vocabulary

Description

Odds Ratio

-log₁₀(p)

N matched cases

N matched controls

D02AE01

ATC

carbamide; topical

24.3

60.6

Q80.9

ICD-10 Finland

Congenital ichthyosis, unspecified

+∞

48.5

Q80.0

ICD-10 Finland

Ichthyosis vulgaris

+∞

46.1

E000006, ,

ATC

19.9

39.1

Q80.8

ICD-10 Finland

Other congenital ichthyosis

+∞

26.0

E000001, ,

ATC

7.0

24.0

154

E0000UV, ,

ATC

8.4

23.8

328

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

20.1

Q80.2

ICD-10 Finland

Lamellar ichthyosis

+∞

18.2

D05BB02

ATC

acitretin; oral

25.0

13.9

E000003, ,

ATC

12.8

13.0

75720

ICD-8 Finland

Congenital anomalies of skin, hair and nails, Iethyosis congenita

+∞

12.7

D07AB08

ATC

desonide; topical

5.3

11.8

134

Kela drug reimbursment

General erythroderma

120.9

10.6

Q80.3

ICD-10 Finland

Congenital bullous ichthyosiform erythroderma

+∞

9.5

D02AX

ATC

Other emollients and protectives

9.8

8.7

G80.2

ICD-10 Finland

Spastic hemiplegic cerebral palsy

+∞

8.4

G80.1

ICD-10 Finland

Spastic diplegic cerebral palsy

+∞

8.4

Z31.5

ICD-10 Finland

Genetic counselling

7.7

8.3

TQW80

NOMESCO Finland

Local dermatologic skincare

13.3

7.3

E000007, ,

ATC

6.5

7.1

Z01.5

ICD-10 Finland

Diagnostic skin and sensitization tests

4.2

6.5

ZX120

NOMESCO Finland

Intravenous

4.3

6.1

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

(3007853) Bacteria identified in Skin by Aerobe culture

3.28

6.06

2.6

1.6

—

(3000494) Fungus identified in Specimen by Culture

2.91

4.59

1.5

1.4

—

(40758558) Short blood count panel - Blood

210

2.41

4.45

8.0

8.8

—

(3042936) Bacteria identified in Isolate by Culture

110

2.64

3.98

2.8

2.1

—

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

380

2.17

3.92

13.0

7.2

1.19

1.22

mmol/l

2.31

330

(40768443) Skin Pathology biopsy report

3.95

3.41

1.3

—

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

5.05

3.31

1.7

1.8

22.76

24.00

mmol/l

—

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

671

2.21

3.17

4.5

3.6

14.33

14.82

pmol/l

1.07

604

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

3.07

3.03

2.8

1.9

—

(40760892) CBC W Ordered Manual Differential panel - Blood

428

1.93

2.94

12.9

7.9

—

(3029080) Hemoglobin [Entitic mass] in Reticulocytes

6.97

2.90

2.5

2.0

30.17

32.00

—

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

2.53

2.74

23.1

7.1

10.66

8.12

mmol/l

0.62

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

6.26

2.73

2.3

1.3

—

(3002256) Pathology report gross observation

2.42

2.64

1.3

1.1

—

(3021440) Promyelocytes/100 leukocytes in Blood

2.54

2.63

8.8

4.6

0.00

0.14

—

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

118

2.19

2.59

13.8

6.3

1.19

1.11

mmol/l

0.44

112

(3013707) Erythrocyte sedimentation rate by Westergren method

662

1.98

2.56

5.6

4.0

13.04

9.65

mm/h

1.09

608

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

3.67

2.54

9.1

8.2

24.07

24.64

mmol/l

—

(3018095) Leukocytes [#/volume] in Urine

288

1.87

2.53

5.4

3.5

37.94

53.17

e6/l

0.29

198

(3017181) Myelocytes/100 leukocytes in Blood

2.42

2.53

8.2

4.4

0.57

0.90

—

(3025159) Blasts/100 leukocytes in Blood

2.46

2.48

8.7

4.5

0.00

0.39

—

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

4.32

2.40

3.4

1.5

—

(3002179) Metamyelocytes/100 leukocytes in Blood

2.36

2.27

8.5

4.4

0.00

0.46

—

(3021589) Normoblasts [#/volume] in Blood

396

1.76

2.26

16.5

9.8

0.00

e9/l

-0.00

325

(3016251) Hemoglobin.gastrointestinal [Presence] in Stool

3.17

2.20

2.1

2.0

—

(3049717) Cytology report of Urine Cyto stain

3.86

2.19

2.3

2.4

—

(3002582) Erythrocytes [#/volume] in Urine

248

1.81

2.16

4.5

2.9

17.32

53.85

e6/l

1.09

186

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

814

2.10

2.12

5.4

4.3

24.95

1.88

mu/l

0.51

741

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

5.17

2.09

3.2

1.6

—

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

5.17

2.09

1.4

1.1

—

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

3.23

2.05

2.4

3.8

151.13

164.96

—

(3000991) Gas panel - Venous blood

2.25

1.97

11.6

6.4

—

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

3.90

1.96

1.2

1.6

—

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

4.70

1.96

3.2

1.5

—

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

667

1.77

1.95

12.6

7.3

90.75

83.33

u/l

0.52

623

(3002032) Base excess in Venous blood by calculation

2.12

1.92

7.4

7.1

1.34

1.65

mmol/l

0.23

(3006217) Methemoglobin/Hemoglobin.total in Arterial blood

2.79

1.91

14.0

8.1

0.62

0.73

—

(40768804) Tissue Pathology biopsy report

309

1.70

1.91

2.7

1.8

—

(3017895) Helicobacter pylori Ab [Units/volume] in Serum

3.00

1.90

1.3

1.6

—

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

181

1.81

1.88

3.3

2.7

—

(3028653) Carboxyhemoglobin/Hemoglobin.total in Arterial blood

2.71

1.85

14.1

8.0

1.20

1.61

—

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

241

1.73

1.84

2.9

2.1

259.83

241.17

u/l

0.06

230

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

2.89

1.83

2.9

3.4

93.62

90.00

—

(3044640) Blood type and Crossmatch panel - Blood

251

1.71

1.80

3.3

2.5

—

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

226

1.72

1.78

2.5

1.5

2.30

2.34

g/l

0.07

127

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

120

1.92

1.78

8.7

4.4

0.79

0.82

mmol/l

0.79

114

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

2.18

1.73

6.5

3.3

—

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

273

1.66

1.68

4.5

3.1

—

(3023368) Bacteria identified in Blood by Culture

196

1.72

1.66

9.8

4.6

—

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

3.69

1.63

3.2

1.6

—

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

3.69

1.63

3.6

2.1

—

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

435

1.57

1.55

5.7

3.3

0.00

estimate

-0.00

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

2.70

1.54

1.1

1.0

3.27

0.96

u/ml

—

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

379

1.58

1.54

3.6

2.8

—

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

3.44

1.54

1.2

1.3

—

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

2.55

1.52

1.4

—

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

111

1.86

1.51

2.9

1.9

—

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

2.16

1.50

4.5

2.2

65.24

66.95

g/l

0.31

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

2.60

1.48

1.1

1.0

3.59

11.37

u/ml

—

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

255

1.61

1.46

1.6

1.4

5.47

1.27

u/ml

—

(4035726) Immunohistochemistry procedure

2.06

1.45

2.8

1.2

—

(3026008) Bacteria identified in Urine by Culture

213

1.63

1.41

3.3

2.7

—

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

222

1.62

1.40

5.0

2.9

0.15

0.21

e6/l

0.25

160

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

2.70

1.38

1.7

1.4

—

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

3.03

1.37

1.2

1.3

—

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

103

953

2.00

1.32

25.4

13.4

88.14

74.66

umol/l

0.81

103

953

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

2.58

1.32

1.5

1.4

—

(3037467) Urinalysis macro (dipstick) panel - Urine

586

1.52

1.30

6.1

3.8

—

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

429

1.50

1.29

7.0

4.5

0.00

estimate

-0.00

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

2.14

1.26

10.6

3.6

1.22

1.23

mmol/l

—

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

2.25

1.24

7.0

4.3

65.80

57.24

—

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

2.70

1.23

3.2

2.3

—

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

187

1.58

1.18

4.7

3.5

—

(3017732) Neutrophils [#/volume] in Blood

1.95

1.18

3.2

2.3

3.58

4.17

e9/l

0.28

(3022217) INR in Platelet poor plasma by Coagulation assay

340

1.48

1.18

23.9

11.0

1.29

1.23

inr

0.14

109

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

1.78

1.18

1.4

1.5

—

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

137

1.66

1.16

2.7

1.04

2.29

e6/l

0.75

(44816844) Macroprolactin [Units/volume] in Serum or Plasma

2.57

1.16

1.6

1.2

—

(3018418) pH of Serum or Plasma

223

1.54

1.16

8.2

3.5

7.39

7.40

—

(3013512) EKG study

223

1.54

1.16

3.3

3.7

—

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

146

1.63

1.14

2.6

0.69

0.86

e6/l

0.27

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

138

1.64

1.13

7.8

2.9

28.37

76.11

ng/l

0.95

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

181

1.57

1.12

2.1

2.0

1.57

1.07

mg/l

0.63

136

(3022313) Gas panel - Capillary blood

2.02

1.11

4.0

3.6

—

(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

2.02

1.11

1.3

1.7

—

(3023511) Choriogonadotropin [Units/volume] in Urine

2.44

1.10

2.4

1.5

—

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

2.44

1.10

1.0

1.4

16.78

10.82

mg/l

—

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

2.13

1.05

12.1

7.8

—

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

2.07

1.02

2.3

1.8

—

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

824

1.56

1.01

18.8

10.3

88.71

89.63

ml/min/173m2

0.10

649

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

134

1.60

1.00

2.7

2.5

2.47

2.43

mmol/l

0.77

114

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

1.78

1.00

2.9

1.8

—

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

1.78

1.00

3.2

1.9

—

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

427

1.41

0.98

5.2

3.3

0.00

estimate

-0.00

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

0.00

0.96

0.0

1.6

—

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

1.90

0.95

11.8

9.6

24.10

25.79

mmol/l

—

(3025941) Bacteria identified in Stool by Culture

1.86

0.91

1.6

1.3

—

(36304419) Bacteria [Presence] in Urine

226

1.45

0.89

4.8

2.7

—

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

1.71

0.89

14.1

8.6

103.31

104.05

mmol/l

0.26

(3019225) pH of Specimen

1.72

0.85

8.7

4.8

—

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

285

1.39

0.81

2.1

1.8

97.02

93.05

pmol/l

0.27

139

(3004410) Hemoglobin A1c/Hemoglobin.total in Blood

773

1.41

0.79

6.9

5.0

39.10

39.04

mmol/mol

0.02

722

(3033319) Streptococcus pyogenes Ag [Presence] in Throat

143

0.60

0.76

1.4

1.7

—

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

736

0.75

0.74

3.4

—

(3024889) Methemoglobin/Hemoglobin.total in Venous blood

1.75

0.71

5.6

8.4

0.63

0.64

—

(3012516) Albumin [Mass/volume] in Urine

191

1.40

0.69

3.9

3.6

91.65

405.44

mg/l

0.46

125

(3020891) Body temperature

1.82

0.67

15.0

5.2

—

(3020682) Albumin/Creatinine [Ratio] in Urine

202

1.37

0.65

4.5

4.0

19.89

12.52

mg/mmol

0.17

131

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

1.64

0.64

2.6

2.1

18.81

4.58

ug/l

—

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

1.70

0.62

1.8

1.9

—

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

1.57

0.56

10.4

3.9

226.89

77.94

ng/l

—

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

126

1.41

0.55

2.6

1.4

889.57

1228.28

nmol/l

1.26

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

162

1.36

0.55

1.6

1.3

15.38

26.69

iu/ml

—

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

1.49

0.54

1.9

1.3

—

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

1.52

0.53

1.2

1.0

—

(3004588) Protein electrophoresis panel - Serum or Plasma

1.59

0.50

5.9

1.9

—

(3044889) 12 lead EKG panel

560

1.24

0.49

4.5

3.2

—

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

1.52

0.48

1.6

1.3

—

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

157

1.33

0.47

1.5

1.3

20.48

8.17

u/ml

—

(3048689) Calprotectin [Mass/mass] in Stool

148

1.34

0.47

4.3

2.4

308.71

99.55

ug/g

0.70

125

(3008898) HLA-B27 [Presence]

1.43

0.46

1.1

—

(3041096) Erythrocytes [Presence] in Urine by Automated

251

1.27

0.46

4.5

2.7

—

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

1.64

0.43

2.0

2.1

—

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

0.00

0.41

0.0

1.1

—

(1761868) Lipid panel - Serum or Plasma

339

0.80

0.41

2.9

2.5

—

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

0.00

0.39

0.0

1.2

—

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

0.00

0.39

0.0

1.2

—

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

199

0.77

0.37

3.1

1.7

—

(3019060) Gas panel - Arterial blood

1.49

0.36

9.7

5.1

—

(3000492) Spirometry study

0.67

0.34

1.2

1.4

—

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

0.66

0.34

1.0

1.9

—

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

130

0.75

0.31

1.3

1.4

—

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

333

1.17

0.27

5.4

3.3

—

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

0.69

0.27

1.6

4.7

2.36

11.04

ug/l

—

(40761536) Microorganisms panel - Urine sediment

1.27

0.26

8.0

2.8

—

(36660697) Celiac disease serology panel - Serum

105

1.27

0.26

1.4

1.2

—

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

257

1.17

0.25

1.4

1.5

—

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

1.20

0.22

1.4

—

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

0.00

0.21

0.0

1.2

—

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

0.00

0.21

0.0

1.0

—

(3042975) Streptococcus sp identified in Isolate by Organism specific culture

0.00

0.21

0.0

1.0

—

(3023410) Appearance of Cerebral spinal fluid

0.00

0.21

0.0

4.2

—

(3000093) Morphology [Interpretation] in Blood Narrative

0.00

0.21

0.0

1.2

—

(4146454) Self-monitoring of blood glucose

0.00

0.21

0.0

3.3

—

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

0.00

0.20

0.0

3.7

—

67.93

—

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

0.00

0.20

0.0

1.0

—

1.40

—

(3013139) Helicobacter pylori Ag [Presence] in Stool

1.19

0.20

1.2

—

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

916

1.16

0.18

27.7

12.1

20.95

21.63

mg/l

0.09

671

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

158

1.17

0.17

2.6

1.6

—

(40768797) Stomach Pathology biopsy report

101

1.21

0.17

1.2

—

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

0.81

0.14

1.9

2.1

—

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

0.79

0.14

11.0

6.2

—

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

171

1.13

0.13

3.8

3.9

32.13

23.03

0.55

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

1.04

0.09

4.4

3.4

4.80

4.64

pmol/l

—

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

0.87

0.07

1.7

2.1

—

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

256

1.07

0.07

2.3

2.0

—

(40761511) CBC panel - Blood by Automated count

959

1.09

0.05

21.9

10.5

—

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

142

1.07

0.02

1.9

1.8

1.45

1.42

0.07

129

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

168

0.94

0.02

1.6

2.3

—

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

228

0.96

0.02

7.0

3.3

0.00

estimate

-0.00

(3022145) Colonoscopy Study observation

1.08

0.02

2.0

1.4

—

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

304

1.03

0.00

3.9

3.0

26.58

36.19

ng/l

0.32

186

(3019832) Treponema pallidum Ab [Presence] in Serum

142

0.98

0.00

1.6

1.9

—

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

223

0.98

0.00

1.5

1.7

—

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

184

0.97

0.00

1.7

2.4

—

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

0.00

0.0

1.5

—

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

0.00

0.0

1.2

—

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

0.00

0.0

1.3

—

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

0.00

0.0

1.2

—

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

0.00

0.0

1.3

—

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

0.00

0.0

1.3

—

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

0.00

0.0

1.0

—

108.83

—

(3013005) Retinol [Moles/volume] in Serum or Plasma

0.00

0.0

1.7

—

1.73

—

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

0.00

0.0

1.5

—

26.33

—

(40768806) Pleura Pathology biopsy report

0.00

0.0

1.2

—

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

0.00

0.0

1.3

—

1.49

—

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

0.00

0.0

2.0

—

7.38

—

(40768800) Prostate Pathology biopsy report

0.00

0.0

1.7

—

(40766048) U1 small nuclear ribonucleoprotein 70kD Ab [Units/volume] in Serum by Immunoassay

0.00

0.0

1.3

—

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

0.00

-0.00

0.0

3.0

—

67.60

—

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

0.00

-0.00

0.0

1.1

—

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

0.00

-0.00

0.0

2.0

—

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

0.00

-0.00

0.0

1.4

—

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

0.00

-0.00

0.0

1.2

—

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

0.00

-0.00

0.0

1.3

—

0.93

—

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

0.00

-0.00

0.0

3.3

—

(3051651) Icteric interference index of Serum or Plasma

0.00

-0.00

0.0

1.7

—

(3000034) Microalbumin [Mass/volume] in Urine

0.00

-0.00

0.0

3.8

—

28.40

—

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

0.00

-0.00

0.0

2.0

—

(3002619) Bacteria identified in Specimen by Culture

0.00

-0.00

0.0

1.2

—

(3024731) MCV [Entitic volume]

105

1043

1.11

-0.00

34.7

17.7

89.62

90.05

0.42

105

1027

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

0.00

-0.00

0.0

2.1

—

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

0.00

-0.00

0.0

1.0

—

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

0.00

-0.00

0.0

1.0

—

(40758292) HTLV I+II Ab panel - Serum

0.00

-0.00

0.0

1.4

—

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

0.00

-0.00

0.0

1.2

—

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

0.00

-0.00

0.0

1.0

—

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

0.00

-0.00

0.0

1.0

—

(3044927) Protein electrophoresis panel - Urine

0.00

-0.00

0.0

1.2

—

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

0.00

-0.00

0.0

1.3

—

(3019497) Choriogonadotropin.beta subunit free [Moles/volume] in Serum or Plasma

0.00

-0.00

0.0

3.6

—

(3028433) Virus identified in Specimen by Culture

0.00

-0.00

0.0

1.4

—

(3029075) Extractable nuclear Ab panel - Serum

0.00

-0.00

0.0

1.0

—

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

0.00

-0.00

0.0

1.0

—

(3014043) Spermatozoa Nonprogressive/100 spermatozoa in Semen

0.00

-0.00

0.0

6.5

—

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

0.00

-0.00

0.0

9.0

—

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

0.00

-0.00

0.0

2.8

—

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

0.00

-0.00

0.0

1.6

—

1.19

—

(3035941) MCH [Entitic mass]

105

1043

1.11

-0.00

34.7

17.7

29.88

30.14

0.78

105

1027

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

0.00

-0.00

0.0

3.0

—

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

0.00

-0.00

0.0

1.4

—

(3000963) Hemoglobin [Mass/volume] in Blood

105

1044

1.09

-0.00

35.1

17.9

133.10

137.97

g/l

2.40

105

1027

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

0.00

-0.00

0.0

1.1

—

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

0.00

-0.00

0.0

1.1

—

(3051611) Lipemic interference index of Serum or Plasma

0.00

-0.00

0.0

1.7

—

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

0.00

-0.00

0.0

1.2

—

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: 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

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