This is a non-core endpoint: only basic statistics are computed.
Epidermolysis bullosa
DOID EFO MESH SNOMED Endpoint Browser
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
429209 individuals
Apply sex-specific rule None
429209
Check conditions None
429209
Check pre-conditions, main-only, mode, registry filters
2 out of 7 registries used, show all original rules.
36
Check minimum number of events None
36
Include endpoints None
36
Remove individuals based on genotype QC
36
Q17_EPIDERMOL_BULLOSA
Control definitions
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
Epidermolysis bullosa
Show upset plot detailing case counts by codes
Or the full data table
Similar endpoints
↥List of similar endpoints to
Epidermolysis bullosa
based on the number of shared cases.
Broader endpoints:
- Other congenital malformations
- Congenital malformations, deformations and chromosomal abnormalities
- Any operation in hilmo
- Any event in hilmo or specialist outpatient
- Any prescribed medicine buy
Narrower endpoints:
None
Summary Statistics
↥Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | 36 | 21 | 15 |
| Unadjusted prevalence (%) | 0.01 | 0.01 | 0.01 |
| Mean age at first event (years) | 30.52 | 33.88 | 25.81 |
Mortality
Not a core endpoint, no data to show.
Age distribution of first events
Year distribution of first events
Cumulative Incidence
Not a core endpoint, no data to show.
Correlations
↥
Index endpoint: Q17_EPIDERMOL_BULLOSA – Epidermolysis bullosa
GWS hits:
Survival analyses between endpoints
↥Not a core endpoint, no data to show.
Drugs most likely to be purchased after Epidermolysis bullosa
↥Endpoint not on priority list, no data to show.