Description
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.
Data source
FinnGen phenocode |
Q17_EPIDERMOL_BULLOSA |
Hospital Discharge registry |
ICD-10: Q81 |
Cause of Death registry |
ICD-10: Q81 |
Level in the ICD-hierarchy |
3 |
First defined in version |
DF4 |
Ontology