Epidermolysis bullosa

Q17_EPIDERMOL_BULLOSA

epidermolysis bullosa: a group of inherited connective tissue diseases that cause blisters in the skin and mucosal membranes, with an incidence of 20 per million newborns in the United States.It is a result of a defect in anchoring between the epidermis and dermis, resulting in friction and skin fragility. Its severity ranges from mild to lethal.

Endpoint definition

↥

FinnGen phenotype data

321302 individuals

Apply sex-specific rule None

321302

Check conditions None

321302

Filter registries

Hospital Discharge: ICD-10 Q81

Cause of death: ICD-10 Q81

Check pre-conditions, main-only, mode, ICD version

Look only at ICD versions H.D: 10 ; C.O.D: 10

Check minimum number of events None

Include endpoints None

Q17_EPIDERMOL_BULLOSA

Extra metadata

Level in the ICD hierarchy 3

First used in FinnGen datafreeze DF4

Parent code in ICD-10 Q8

Name in latin Epidermolysis bullosa

Similar endpoints

↥

List of similar endpoints to Epidermolysis bullosa based on the number of shared cases.

Broader endpoints:

Narrower endpoints:

None

Show all endpoint correlations

Summary Statistics

↥

Key figures

All

Female

Male

Number of individuals

Unadjusted prevalence (%)

0.01

Mean age at first event (years)

29.78

35.38

20.81

?

Follow-up

Amount of time to look for the endpoint since entering the study. This is either either 1, 5, 15 years or the full study time from 1998 to 2019.

Absolute risk

Estimates the probability of dying from the current endpoint. Check the Documentation page for Mortality: absolute risk to get more details.

Hazard Ratio (HR) and 95% Confidence Interval (CI)

Measures how much the risk of dying increases (HR > 1) or decreases (HR < 1).

Number of individuals (N)

Number of individuals having the current endpoint and died during the follow-up time.
Mortality

Follow-up	Absolute risk	HR [95% CI]	p	N
1998–2019	-	-	-	-
15 years	-	-	-	-
5 years	-	-	-	-
1 year	-	-	-	-

Age distribution of first events

Year distribution of first events

Cumulative Incidence

Correlations

↥

Index endpoint: Q17_EPIDERMOL_BULLOSA – Epidermolysis bullosa
GWS hits:

Survival analyses between endpoints

↥

Plot

before Epidermolysis bullosa
after Epidermolysis bullosa

Loading survival analyses plot

Table

Loading survival analyses table

Drugs most likely to be purchased after Epidermolysis bullosa

↥