Chronic bullous disease of childhood

L12_BULLLOUS_CHILD

juvenile dermatitis herpetiformis: dermatitis herpetiformis in children

Endpoint definition

↥

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 — L12.2 Cause of death: ICD-10 — L12.2 2 out of 7 registries used, show all original rules.	37
4. Check minimum number of events None	37
5. Include endpoints None	37
6. Filter based on genotype QC (FinnGen only)	37

Control definitions (FinnGen only)

Control exclude: L12_BULLOUS

Extra metadata

Level in the ICD hierarchy: 4
First used in FinnGen datafreeze: DF2
Parent code in ICD-10: L12
Name in latin: Morbus bullosus chronicus infantum

NAME	L12_BULLLOUS_CHILD
CONTROL_EXCLUDE	L12_BULLOUS
CONTROL_PRECONDITIONS
CONTROL_CONDITIONS
SEX
INCLUDE
PRE_CONDITIONS
CONDITIONS
OUTPAT_ICD
OUTPAT_OPER
HD_MAINONLY
HD_ICD_10_ATC
HD_ICD_10	L122
HD_ICD_9	$!$	The FinnGen clinical team has checked and no code can be used for this rule.
HD_ICD_8	$!$	The FinnGen clinical team has checked and no code can be used for this rule.
HD_ICD_10_EXCL
HD_ICD_9_EXCL
HD_ICD_8_EXCL
COD_MAINONLY
COD_ICD_10	L122
COD_ICD_9	$!$	The FinnGen clinical team has checked and no code can be used for this rule.
COD_ICD_8	$!$	The FinnGen clinical team has checked and no code can be used for this rule.
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 Chronic bullous disease of childhood 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	206	112	94
Only index persons	185	103	82
Unadjusted period prevalence (%)
Whole population	0.00	0.00	0.00
Only index persons	0.00	0.00	0.00
Median age at first event (years)
Whole population	-	63.15	56.52
Only index persons	59.15	61.32	56.43

-FinnGen-

Key figures

	All	Female	Male
Number of individuals	37	21	16
Unadjusted period prevalence (%)	0.01	0.01	0.01
Median age at first event (years)	54.68	48.37	62.97

-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

No data

-FinnGen-

Cumulative Incidence Function

Not a core endpoint, no data to show.

CodeWAS (R11)

↥

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

↥

(ID) Name

N Cases

N Controls

-log₁₀(p)

cases

controls

cases

controls

unit

-log₁₀(p)

N cases

N controls

(40768443) Skin Pathology biopsy report

12.09

8.48

1.1

—

(42870588) Differential panel, method unspecified - Blood

3.91

4.00

15.7

5.8

—

(3045414) Leukocytes [Presence] in Urine

9.92

3.39

2.2

1.0

—

(3049804) Myeloperoxidase IgG Ab [Units/volume] in Serum

6.90

2.81

2.5

1.6

—

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

4.14

2.43

3.6

3.7

—

(3007853) Bacteria identified in Skin by Aerobe culture

3.76

2.42

1.9

1.7

—

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

5.28

2.37

1.5

1.4

—

(3021589) Normoblasts [#/volume] in Blood

139

2.73

2.21

18.2

9.3

0.0

e9/l

0.00

110

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

3.67

1.99

3.1

1.9

—

63.6

—

(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

4.63

1.88

3.0

2.0

—

(3000492) Spirometry study

3.21

1.75

1.4

1.3

—

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

142

2.35

1.69

4.3

6.6

1.2

mmol/l

0.21

116

(3000330) Specific gravity of Urine by Test strip

3.95

1.67

2.4

5.1

—

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

2.59

1.64

2.0

1.8

867.2

1143.8

nmol/l

—

(40761535) Cells panel - Urine sediment

2.95

1.60

2.7

2.3

—

(40768804) Tissue Pathology biopsy report

109

2.27

1.57

2.5

2.0

—

(3022145) Colonoscopy Study observation

2.84

1.54

2.4

1.4

—

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

234

2.49

1.51

13.2

6.9

80.4

77.9

u/l

0.08

218

(40758558) Short blood count panel - Blood

2.28

1.47

25.3

5.5

—

(3016417) Amylase.pancreatic [Enzymatic activity/volume] in Serum or Plasma

2.91

1.43

3.5

2.1

29.3

29.0

u/l

—

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

2.28

1.42

3.3

3.0

—

(3002256) Pathology report gross observation

2.72

1.39

1.1

—

(3022621) pH of Urine by Test strip

3.04

1.33

2.6

2.1

—

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

3.04

1.33

1.2

2.1

—

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

2.66

1.30

2.8

1.4

1.2

1.1

g/l

—

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

2.55

1.24

4.8

7.2

—

(3000494) Fungus identified in Specimen by Culture

2.54

1.18

1.6

1.5

—

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

2.38

1.13

2.4

1.4

—

(3033658) Prothrombin time (PT) actual/Normal

2.02

1.04

4.3

4.7

91.7

94.1

0.18

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

134

1.86

0.99

2.7

3.8

—

(4035726)

2.25

0.78

1.4

1.5

—

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

1.87

0.75

2.0

1.5

—

(3032080) INR in Blood by Coagulation assay

115

1.69

0.73

4.6

7.0

1.2

inr

—

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

1.76

0.67

2.4

1.5

—

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

1.79

0.60

2.7

1.5

—

(40760892) CBC W Ordered Manual Differential panel - Blood

1.63

0.60

5.6

4.2

—

(36304419) Bacteria [Presence] in Urine

1.66

0.59

2.4

—

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

1.56

0.58

3.1

2.3

2.8

3.2

mg/l

—

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

1.69

0.57

2.7

1.5

—

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

105

1.54

0.51

2.7

2.5

—

(40771025) 25-Hydroxyvitamin D3+25-Hydroxyvitamin D2 [Moles/volume] in Serum or Plasma

124

1.51

0.50

2.2

2.6

84.1

72.4

nmol/l

0.92

109

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

1.54

0.47

2.8

2.6

2.5

mmol/l

—

(3033319) Streptococcus pyogenes Ag [Presence] in Throat

1.59

0.43

1.6

1.8

—

(3023368) Bacteria identified in Blood by Culture

1.45

0.42

3.8

3.7

—

(3010517) Carboxyhemoglobin/Hemoglobin.total in Venous blood

0.00

0.42

0.0

2.1

—

1.2

—

(3022217) INR in Platelet poor plasma by Coagulation assay

1.54

0.42

3.2

18.1

—

1.2

—

(3004119) Hemoglobin [Mass/volume] in Venous blood

0.00

0.42

0.0

2.8

—

132.4

—

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

1.43

0.42

1.3

1.7

—

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

0.00

0.41

0.0

7.6

—

(3022948) Iron [Moles/volume] in Serum or Plasma

1.43

0.36

2.3

2.2

18.0

15.0

umol/l

—

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

117

0.70

0.34

3.9

4.0

—

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

1.43

0.34

2.9

1.6

—

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

1.29

0.30

2.3

1.9

—

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

1.29

0.30

1.5

1.6

—

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

115

1.35

0.29

2.6

1.9

86.2

98.2

pmol/l

—

(3013512) EKG study

1.33

0.29

4.0

4.5

—

(3044889) 12 lead EKG panel

215

1.33

0.27

3.2

—

(3026008) Bacteria identified in Urine by Culture

0.74

0.26

1.6

3.0

—

(3009542) Hematocrit [Volume Fraction] of Blood

268

1.38

0.25

28.3

13.8

40.0

39.5

0.16

204

(1761868) Lipid panel - Serum or Plasma

100

0.75

0.25

2.1

2.8

—

(40768797) Stomach Pathology biopsy report

1.33

0.22

1.0

1.1

—

(1761482) Bacteria [#/volume] in Urine by Culture

0.00

0.22

0.0

6.0

—

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

0.00

0.22

0.0

1.5

—

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

0.00

0.22

0.0

1.3

—

(3006418) Campylobacter sp identified in Tissue by Organism specific culture

0.00

0.22

0.0

1.3

—

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

0.00

0.22

0.0

1.3

—

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

0.00

0.21

0.0

1.4

—

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

0.00

0.21

0.0

3.4

—

24.2

—

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

0.00

0.21

0.0

5.3

—

59.3

—

(3025941) Bacteria identified in Stool by Culture

0.00

0.21

0.0

1.2

—

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

0.00

0.20

0.0

1.8

—

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

1.22

0.18

2.4

2.0

8.9

5.9

e6/l

—

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

0.75

0.17

1.8

2.2

—

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

106

1.20

0.11

1.9

3.7

12.4

24.2

ng/l

—

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

197

1.15

0.09

4.0

3.3

—

(3044640) Blood type and Crossmatch panel - Blood

1.09

0.08

2.4

2.1

—

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

1.09

0.08

2.1

2.3

49.4

50.1

u/l

—

(3003338) MCHC [Mass/volume]

256

0.93

0.01

36.4

15.8

332.8

333.6

g/l

0.15

256

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

0.00

0.0

1.3

—

(3043238) Trisomy 21 risk [Likelihood] in Fetus

0.00

0.0

1.3

—

(3047352) Trisomy 18 risk [Likelihood] in Fetus

0.00

0.0

1.0

—

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

0.00

0.0

1.4

—

(3012413) Glucose [Moles/volume] in Serum or Plasma --2 hours post meal

0.00

0.0

1.7

—

(3037467) Urinalysis macro (dipstick) panel - Urine

210

1.00

0.00

4.9

4.2

—

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

1.02

0.00

1.3

1.4

—

(3009340) Metanephrine [Moles/volume] in Serum or Plasma

0.00

0.0

2.2

—

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

0.00

0.0

1.5

—

36.2

—

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

0.00

0.0

1.6

—

(40768800) Prostate Pathology biopsy report

0.00

0.0

1.2

—

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

0.00

0.0

1.8

—

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

0.00

0.0

1.4

—

(3014959) Toxoplasma gondii IgG Ab [Units/volume] in Serum

0.00

0.0

2.4

—

(3041354) Potassium [Moles/volume] in Venous blood

0.00

0.0

2.9

—

4.0

—

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

0.00

0.0

1.6

—

(3011363) Streptococcus pneumoniae Ag [Presence] in Urine

0.00

0.0

1.0

—

(3033705) Calcium.ionized [Moles/volume] in Venous blood

0.00

0.0

2.9

—

(21492711) Cytomegalovirus IgG Ab avidity [Presence] in Serum or Plasma by Immunoassay

0.00

0.0

1.8

—

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

0.00

0.0

1.4

—

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

0.00

0.0

2.8

—

(3005033) Fetal Nuchal fold Thickness US

0.00

0.0

1.0

—

(3030905) Polymorphonuclear cells [#/volume] in Blood

0.00

0.0

2.6

—

5.3

—

(3035285) Chloride [Moles/volume] in Venous blood

0.00

0.0

2.9

—

108.4

—

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

0.00

0.0

1.5

—

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

0.00

0.0

1.6

—

(3032035) Polymorphonuclear cells/100 leukocytes in Blood

0.00

0.0

2.6

—

72.2

—

(3039162) Centromere protein B Ab [Units/volume] in Serum

0.00

0.0

1.3

—

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

0.00

0.0

1.5

—

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

0.00

0.0

1.0

—

213.0

—

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

0.00

0.0

1.6

—

(3027529) Toxoplasma gondii IgM Ab [Units/volume] in Serum

0.00

0.0

1.2

—

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

0.00

0.0

1.0

—

(3024928) Oxygen saturation in Venous blood

0.00

0.0

2.2

—

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

0.00

0.0

1.8

—

218.8

—

(3019150) Specific gravity of Urine by Refractometry

0.93

0.00

15.0

3.3

—

1.0

—

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

0.00

-0.00

0.0

1.8

—

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

0.00

-0.00

0.0

1.8

—

(3008037) Lactate [Moles/volume] in Venous blood

0.00

-0.00

0.0

4.1

—

1.2

—

(3038515) Glucose [Moles/volume] in Venous blood

0.00

-0.00

0.0

4.1

—

7.0

—

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

0.00

-0.00

0.0

1.1

—

(3021901) Oxygen saturation in Capillary blood

0.00

-0.00

0.0

2.8

—

(40763531) Fetal Nuchal fold [Multiple of the median] Thickness adjusted for maternal weight

0.00

-0.00

0.0

1.1

—

(46235831) Pregnancy associated plasma protein A [Multiple of the median] adjusted in Serum or Plasma

0.00

-0.00

0.0

1.1

—

(3023183) Ammonium ion [Moles/volume] in Plasma

0.00

-0.00

0.0

5.9

—

41.7

—

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

0.00

-0.00

0.0

2.4

—

(1616796) Gas panel - Central venous blood

0.00

-0.00

0.0

4.4

—

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

0.00

-0.00

0.0

1.3

—

(3008714) Choriogonadotropin [Multiple of the median] adjusted in Serum or Plasma

0.00

-0.00

0.0

1.1

—

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

0.00

-0.00

0.0

1.4

—

(36033641) SARS-CoV-2 (COVID-19) Ag [Presence] in Upper respiratory specimen by Rapid immunoassay

0.00

-0.00

0.0

3.3

—

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

0.00

-0.00

0.0

4.8

—

(3008898) HLA-B27 [Presence]

0.00

-0.00

0.0

1.0

—

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

0.00

-0.00

0.0

1.3

—

(44816559) Phosphatidylethanol [Mass/volume] in Blood

0.00

-0.00

0.0

1.2

—

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

0.00

-0.00

0.0

1.1

—

(3023939) Sjogrens syndrome-A extractable nuclear Ab [Units/volume] in Serum

0.00

-0.00

0.0

1.1

—

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

0.00

-0.00

0.0

1.3

—

Mortality – FinRegistry

↥

Association

Association between endpoint L12_BULLLOUS_CHILD and mortality.

Females

No data

Males

No data

Mortality risk

Mortality risk for people of age

years, who have L12_BULLLOUS_CHILD.

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: L12_BULLLOUS_CHILD – Chronic bullous disease of childhood

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

Chronic bullous disease of childhood

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