Transepidermal elimination disorders

L12_TRANSEPIDERMELIMINATION

skin disease: Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs.

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Endpoint definition

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Report an error or suggest an improvement for this endpoint codes

Endpoint definition steps	FinnGen
Phenotype data	520210
1. Apply sex-specific rule None	520210
2. Check conditions None	520210
3. Check pre-conditions, main-only, mode, registry filters Registry filters: Hospital discharge: ICD-10 — L87 Cause of death: ICD-10 — L87 2 out of 7 registries used, show all original rules.	-
4. Check minimum number of events None	-
5. Include endpoints L12_KERATFOLLICULETPARA L12_REACPERFCOLLAG L12_EKASTISUSOERF L12_TRANSEPIELINAS	52
6. Filter based on genotype QC (FinnGen only)	52

Control definitions (FinnGen only)

Control exclude: L12_OTHERSKINSUBCUTIS

Extra metadata

Level in the ICD hierarchy: 3
First used in FinnGen datafreeze: DF2
Parent code in ICD-10: L80-L99
Name in latin: Perturbationes eliminationis transepidermalis

NAME	L12_TRANSEPIDERMELIMINATION
CONTROL_EXCLUDE	L12_OTHERSKINSUBCUTIS
CONTROL_PRECONDITIONS
CONTROL_CONDITIONS
SEX
INCLUDE	L12_KERATFOLLICULETPARA\|L12_REACPERFCOLLAG\|L12_EKASTISUSOERF\|L12_TRANSEPIELINAS
PRE_CONDITIONS
CONDITIONS
OUTPAT_ICD
OUTPAT_OPER
HD_MAINONLY
HD_ICD_10_ATC
HD_ICD_10	L87
HD_ICD_9
HD_ICD_8
HD_ICD_10_EXCL
HD_ICD_9_EXCL
HD_ICD_8_EXCL
COD_MAINONLY
COD_ICD_10	L87
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

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List of similar endpoints to Transepidermal elimination disorders based on the number of shared cases.

Similar with more cases:

Similar with less cases:

Case counts by codes

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FinnGen case counts by registry codes:

Upset plot

Full data table

Summary Statistics

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-FinRegistry-

Key figures

	All	Female	Male
Number of individuals
Whole population	466	280	178
Only index persons	395	249	146
Unadjusted period prevalence (%)
Whole population	0.01	0.01	0.00
Only index persons	0.01	0.01	0.01
Median age at first event (years)
Whole population	56.95	57.00	56.49
Only index persons	55.30	55.34	55.24

-FinnGen-

Key figures

	All	Female	Male
Number of individuals	52	34	18
Unadjusted period prevalence (%)	0.01	0.01	0.01
Median age at first event (years)	57.17	55.07	61.14

-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

Not a core endpoint, no data to show.

CodeWAS (R11)

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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.

No data available

LabWAS

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N Cases

N Controls

-log₁₀(p)

cases

controls

cases

controls

unit

-log₁₀(p)

N cases

N controls

(3019060) Gas panel - Arterial blood

8.76

9.95

10.9

24.5

—

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

8.38

9.59

9.9

31.1

—

(3019198) Lymphocytes [#/volume] in Blood

224

8.47

9.08

7.9

5.1

1.45

1.85

e9/l

3.15

198

(3006315) Basophils [#/volume] in Blood

217

7.66

8.70

8.0

5.0

0.04

e9/l

0.10

188

(3001604) Monocytes [#/volume] in Blood

217

7.66

8.70

8.0

5.0

0.61

0.56

e9/l

0.53

186

(3002030) Lymphocytes/100 leukocytes in Blood

207

7.20

8.69

7.2

5.7

23.10

28.79

2.32

189

(3001122) Ferritin [Mass/volume] in Serum or Plasma

160

6.11

8.60

5.0

3.0

148.37

109.80

ug/l

0.69

144

(3023368) Bacteria identified in Blood by Culture

111

5.44

8.50

8.6

4.3

—

(3007853) Bacteria identified in Skin by Aerobe culture

6.01

8.46

3.4

1.3

—

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

5.88

8.26

2.3

1.7

—

(3013115) Eosinophils [#/volume] in Blood

225

7.19

8.17

8.2

5.4

0.19

0.18

e9/l

0.10

197

(3019069) Monocytes/100 leukocytes in Blood

200

6.72

8.03

7.5

5.8

8.70

8.47

0.17

184

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

5.12

7.84

7.2

3.0

32.00

89.42

ng/l

0.47

(3018010) Neutrophils/100 leukocytes in Blood

203

6.56

7.80

7.0

5.6

61.72

56.83

1.67

187

(42870588) Differential panel, method unspecified - Blood

143

4.98

7.37

7.1

4.2

—

(3012544) pH of Venous blood

5.98

7.30

9.2

4.9

—

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

5.04

7.28

2.8

1.8

—

(3002032) Base excess in Venous blood by calculation

6.18

7.22

9.8

4.6

2.60

3.07

mmol/l

0.15

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

5.29

7.14

3.0

1.5

—

(40763571) Iron/Transferrin [Ratio] in Serum or Plasma

5.29

7.14

7.5

2.9

26.30

18.85

0.51

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

205

5.73

7.00

22.6

9.9

1.22

mmol/l

0.34

180

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

7.48

6.73

10.0

6.3

26.28

26.17

mmol/l

0.03

(3021447) Carbon dioxide [Partial pressure] in Venous blood

5.62

6.53

9.7

4.4

6.00

6.06

kpa

0.09

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

5.00

6.25

2.1

1.4

—

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

3.94

5.45

1.5

1.1

2.09

2.94

u/ml

—

(3026008) Bacteria identified in Urine by Culture

129

3.82

5.37

5.0

2.9

—

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

4.37

5.31

2.1

1.5

—

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

4.61

5.22

2.3

1.5

—

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

4.76

4.88

2.3

1.3

—

(3024354) Oxygen [Partial pressure] in Venous blood

5.31

4.82

9.9

3.6

5.15

4.54

kpa

0.31

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

280

4.09

4.28

7.1

4.1

—

115.00

—

(3037467) Urinalysis macro (dipstick) panel - Urine

286

3.90

4.02

8.7

4.3

—

(3027273) Bicarbonate [Moles/volume] in Venous blood

6.16

3.70

9.4

2.8

26.26

24.97

mmol/l

—

(3019832) Treponema pallidum Ab [Presence] in Serum

6.53

3.49

1.3

1.5

—

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

339

4.09

3.29

17.9

7.8

94.54

80.60

u/l

0.94

319

(3032080) INR in Blood by Coagulation assay

153

2.80

3.26

17.2

7.6

1.30

1.22

inr

—

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

171

2.78

3.20

2.5

1.8

99.38

105.01

pmol/l

0.27

(3016407) Fibrinogen [Mass/volume] in Platelet poor plasma by Coagulation assay

7.35

2.95

2.0

1.9

4.90

4.16

g/l

—

(3024889) Methemoglobin/Hemoglobin.total in Venous blood

5.05

2.93

7.5

3.1

0.73

0.74

—

(3010517) Carboxyhemoglobin/Hemoglobin.total in Venous blood

5.05

2.93

7.5

3.1

1.63

1.06

—

(3042936) Bacteria identified in Isolate by Culture

2.95

2.91

3.5

2.7

—

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

5.59

2.83

1.1

—

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

9.04

2.81

1.4

1.2

—

(36660697) Celiac disease serology panel - Serum

3.51

2.69

1.1

1.2

—

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

192

2.52

2.64

8.2

4.6

—

(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

3.74

2.29

2.3

1.4

—

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

3.74

2.29

1.8

1.5

—

(3000991) Gas panel - Venous blood

3.11

2.25

17.9

8.8

—

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

4.09

2.24

11.3

3.4

61.37

53.77

—

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

3.59

2.20

1.1

1.4

—

(36304419) Bacteria [Presence] in Urine

110

2.33

2.11

4.3

3.0

—

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

275

2.42

2.09

8.7

3.2

67.61

57.67

u/l

0.26

252

(4010399)

3.08

2.05

1.4

—

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

2.38

2.05

1.4

1.3

2.32

2.44

g/l

0.09

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

2.34

2.03

3.4

2.6

—

(3044889) 12 lead EKG panel

298

2.48

2.02

5.7

3.6

—

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

4.09

2.00

2.5

1.7

0.19

0.22

g/l

—

(3000620) Complement C3 [Mass/volume] in Serum or Plasma

4.09

2.00

2.5

1.7

1.07

1.19

g/l

—

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

4.90

1.99

1.8

1.1

—

(3004588) Protein electrophoresis panel - Serum or Plasma

3.35

1.87

1.0

1.6

—

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

2.46

1.84

1.5

1.4

—

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

141

2.13

1.83

5.2

3.0

—

(3044640) Blood type and Crossmatch panel - Blood

125

2.14

1.80

3.8

2.5

—

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

4.13

1.75

1.8

1.5

259.00

233.23

—

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

255

2.14

1.75

4.0

3.2

—

(3022145) Colonoscopy Study observation

2.47

1.64

1.3

1.4

—

(40768797) Stomach Pathology biopsy report

2.29

1.60

1.5

1.2

—

(40758558) Short blood count panel - Blood

114

2.05

1.56

5.9

6.8

—

(3052851) Hemolysis interference index of Serum or Plasma

3.57

1.56

2.0

2.9

—

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

3.34

1.47

1.0

—

(3043723) Beta 1 globulin [Mass/volume] in Serum or Plasma by Electrophoresis

3.34

1.47

1.0

1.2

—

(3025941) Bacteria identified in Stool by Culture

2.63

1.45

1.0

1.1

—

(3027945) Reticulocytes/100 erythrocytes in Blood

2.40

1.44

3.0

2.6

1.89

1.86

—

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

2.04

1.42

1.9

1.6

22.31

20.28

nmol/l

0.27

(40760892) CBC W Ordered Manual Differential panel - Blood

2.01

1.37

8.9

6.3

—

(3002434) Lupus erythematosus deoxynucleoproteins IgG Ab [Units/volume] in Serum by Immunoassay

2.96

1.31

1.2

2.1

—

(3002385) Erythrocyte distribution width [Ratio]

349

2.06

1.20

60.4

17.8

14.43

13.72

1.86

341

(3017181) Myelocytes/100 leukocytes in Blood

2.18

1.18

5.6

5.3

—

0.37

—

(3013139) Helicobacter pylori Ag [Presence] in Stool

2.65

1.18

1.2

1.1

—

(3014007) Fractional oxyhemoglobin in Arterial blood

2.54

1.17

21.7

8.4

89.40

93.76

—

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

1.91

1.12

1.9

1.8

481.14

483.46

pmol/l

0.01

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

1.83

1.00

1.4

1.3

57.37

18.05

iu/ml

—

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

1.90

0.99

3.7

2.8

0.69

0.73

e6/l

—

(3003338) MCHC [Mass/volume]

358

1.90

0.99

64.8

19.4

330.10

331.66

g/l

0.56

358

(3002179) Metamyelocytes/100 leukocytes in Blood

2.03

0.98

6.1

5.3

—

0.25

—

(3025159) Blasts/100 leukocytes in Blood

2.03

0.98

6.1

5.6

—

0.00

—

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

1.96

0.91

7.1

3.2

—

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

1.88

0.91

3.9

3.0

0.83

4.55

e6/l

—

(3028653) Carboxyhemoglobin/Hemoglobin.total in Arterial blood

1.99

0.85

25.2

8.0

1.02

1.61

—

(3006217) Methemoglobin/Hemoglobin.total in Arterial blood

1.99

0.85

25.0

8.0

0.93

0.66

—

(3021589) Normoblasts [#/volume] in Blood

193

1.57

0.79

18.5

8.8

0.00

e9/l

0.00

149

(3009343) pH of Capillary blood

2.19

0.77

3.6

2.4

—

(3021440) Promyelocytes/100 leukocytes in Blood

1.92

0.76

6.1

5.4

—

0.00

—

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

196

1.53

0.73

8.8

5.2

0.00

estimate

—

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

1.94

0.70

1.2

1.5

—

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

1.74

0.63

1.2

1.7

—

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

203

1.45

0.58

6.2

3.7

0.00

estimate

—

(3008230) Borrelia burgdorferi IgM Ab [Units/volume] in Serum

1.70

0.58

1.8

2.4

—

(3022621) pH of Urine by Test strip

1.65

0.56

2.3

—

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

147

1.46

0.56

6.5

3.7

—

(3015736) pH of Urine

149

1.43

0.52

5.6

3.4

—

(3000494) Fungus identified in Specimen by Culture

1.48

0.45

2.3

1.9

—

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

163

1.37

0.43

5.5

3.5

35.58

36.98

ng/l

0.03

108

(3041096) Erythrocytes [Presence] in Urine by Automated

107

1.42

0.43

6.4

3.5

—

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

1.57

0.42

4.6

2.2

7.91

9.54

g/l

—

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

1.46

0.42

1.1

1.5

—

(3009542) Hematocrit [Volume Fraction] of Blood

377

1.41

0.38

59.2

15.6

36.25

40.01

1.10

274

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

100

1.40

0.38

1.2

1.4

—

(1761868) Lipid panel - Serum or Plasma

153

0.72

0.37

2.6

2.8

—

(3002256) Pathology report gross observation

1.37

0.32

1.1

1.2

—

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

1.36

0.31

5.3

3.6

—

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

1.37

0.31

1.5

1.3

14.40

12.14

u/ml

—

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

430

1.34

0.25

5.3

4.6

6.49

6.05

mmol/l

0.68

396

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

1.39

0.24

1.4

1.5

—

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

0.00

0.21

0.0

4.5

—

23.73

—

(3027944) Amphetamines [Presence] in Urine

0.00

0.21

0.0

1.1

—

(3027008) Opiates [Presence] in Urine

0.00

0.21

0.0

1.1

—

(3028300) Cannabinoids [Presence] in Urine

0.00

0.21

0.0

1.1

—

(36032269) Testosterone Free [Moles/volume] in Serum or Plasma by calculation

0.00

0.21

0.0

1.6

—

210.55

—

(3039443) Prostate specific Ag panel - Serum or Plasma

0.00

0.21

0.0

1.6

—

(3016879) Cocaine [Presence] in Urine

0.00

0.21

0.0

1.1

—

(3016543) Leukocytes [#/volume] in Cerebral spinal fluid

0.00

0.21

0.0

1.1

—

1.10

—

(3027475) Erythrocytes [#/volume] in Cerebral spinal fluid

0.00

0.21

0.0

1.3

—

20.70

—

(3000764) Benzodiazepines [Presence] in Urine

0.00

0.21

0.0

1.1

—

(3019473) Protein [Mass/volume] in Cerebral spinal fluid

0.00

0.21

0.0

1.1

—

320.20

—

(3004248) Sex hormone binding globulin [Moles/volume] in Serum or Plasma

0.00

0.20

0.0

1.6

—

45.14

—

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

0.75

0.17

3.0

3.9

—

23.87

—

(40768804) Tissue Pathology biopsy report

174

1.14

0.11

3.4

2.0

—

(3013512) EKG study

125

1.16

0.11

6.4

2.8

—

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

1.14

0.07

8.0

3.9

0.00

estimate

—

(3013603) Prostate specific Ag [Mass/volume] in Serum or Plasma

106

0.93

0.01

2.9

4.4

0.88

1.60

ug/l

—

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

0.00

0.0

1.1

—

(3015916) Alpha-1-Fetoprotein [Units/volume] in Serum or Plasma

0.00

0.0

1.0

—

2.42

—

(3011288) Drugs identified in Urine by Screen method

0.00

0.0

1.1

—

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

0.00

0.0

1.0

—

(3044290) Cell count panel - Cerebral spinal fluid

0.00

0.0

1.1

—

(3032773) Endomysium IgG Ab [Titer] in Serum

0.00

0.0

1.0

—

(40768800) Prostate Pathology biopsy report

0.00

0.0

1.4

—

(1617658) Protocol used for examination of sentinel lymph nodes

0.00

0.0

1.0

—

(1175715) Chlamydophila pneumoniae IgM Ab [Presence] in Serum by Immunoassay

0.00

0.0

1.2

—

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

0.00

0.0

1.1

—

(3005570) Glucose [Moles/volume] in Urine

0.00

0.0

3.0

—

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

0.00

0.0

1.4

—

(3029080) Hemoglobin [Entitic mass] in Reticulocytes

0.00

0.0

1.0

—

35.40

—

(4062490)

0.00

0.0

1.6

—

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

0.00

0.0

5.0

—

(40768806) Pleura Pathology biopsy report

0.00

0.0

2.8

—

(3023410) Appearance of Cerebral spinal fluid

0.00

0.0

1.4

—

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

0.00

0.0

1.1

—

(3018559) Microscopic observation [Identifier] in Buccal smear by Cyto stain

0.00

0.0

1.1

—

(3011166) Borrelia burgdorferi Ab [Presence] in Cerebral spinal fluid

0.00

0.0

1.0

—

(40761511) CBC panel - Blood by Automated count

452

1.15

0.00

50.9

12.8

—

(3014973) Borrelia burgdorferi IgM Ab [Units/volume] in Cerebral spinal fluid

0.00

0.0

1.0

—

(3010380) Borrelia burgdorferi IgG Ab [Units/volume] in Cerebral spinal fluid

0.00

0.0

1.0

—

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

0.00

0.0

1.0

—

(3048821) Cortisol [Moles/volume] in Serum or Plasma --post 1 mg dexamethasone PO overnight

0.00

0.0

1.3

—

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

0.00

0.0

2.7

—

16.72

—

(3008757) Leukocyte morphology finding [Identifier] in Blood

0.00

0.0

2.4

—

Mortality – FinRegistry

↥

Association

Association between endpoint L12_TRANSEPIDERMELIMINATION and mortality.

Females

Parameter	HR [95% CI]	p-value
L12_TRANSEPIDERMELIMINATION	1.881 [1.35, 2.62]	< 0.001
Birth year	0.992 [0.98, 1.0]	0.06

During the follow-up period (1.1.1998 — 31.12.2019), 84 out of 259 females with L12_TRANSEPIDERMELIMINATION died.

Males

Parameter	HR [95% CI]	p-value
L12_TRANSEPIDERMELIMINATION	2.845 [1.63, 4.95]	< 0.001
Birth year	0.985 [0.98, 0.99]	0.002

During the follow-up period (1.1.1998 — 31.12.2019), 59 out of 149 males with L12_TRANSEPIDERMELIMINATION died.

Mortality risk

Mortality risk for people of age

years, who have L12_TRANSEPIDERMELIMINATION.

N-year risk	Females	Males
1	0.202%	0.466%
5	0.896%	2.788%
10	2.435%	7.127%
15	4.718%	13.85%
20	8.183%	22.8%

Relationships between endpoints

↥

Index endpoint: L12_TRANSEPIDERMELIMINATION – Transepidermal elimination disorders

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

Transepidermal elimination disorders

Endpoint definition

Endpoint definition steps

FinnGen

Phenotype data

1. Apply sex-specific rule

2. Check conditions

3. Check pre-conditions, main-only, mode, registry filters

4. Check minimum number of events

5. Include endpoints

6. Filter based on genotype QC (FinnGen only)

Similar endpoints

Case counts by codes

Summary Statistics

-FinRegistry-

Key figures

-FinnGen-

Key figures

-FinRegistry-

Age distribution of first events

-FinnGen-

Age distribution of first events

-FinRegistry-

Year distribution of first events

-FinnGen-

Year distribution of first events

-FinRegistry-

Cumulative Incidence Function

-FinnGen-

Cumulative Incidence Function

CodeWAS (R11)

LabWAS

Mortality – FinRegistry

Association

Females

Males

Mortality risk

Relationships between endpoints