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Epidermolysis bullosa

DOID EFO MESH SNOMED PheWeb

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

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FinnGen phenotype data

356077 individuals

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Apply sex-specific rule None

356077

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Check conditions None

356077

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Filter registries

Hospital Discharge: ICD-10 Q81
Cause of death: ICD-10 Q81

31

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

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

31

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Check minimum number of events None

31

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Include endpoints None

31

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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

Summary Statistics

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Key figures

All Female Male
Number of individuals 31 19 12
Unadjusted prevalence (%) 0.01 0.01 0.01
Mean age at first event (years) 29.40 35.73 19.39

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

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Index endpoint: Q17_EPIDERMOL_BULLOSA – Epidermolysis bullosa
GWS hits:

Survival analyses between endpoints

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Plot

before Epidermolysis bullosa
after Epidermolysis bullosa

loading spinner Loading survival analyses plot

Drugs most likely to be purchased after Epidermolysis bullosa

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