epidermolysis bullosa simplex door BP230-deficiƫntie (aandoening)
epidermolysis bullosa simplex door BP230-deficiƫntie
Epidermolysis bullosa simplex due to BP230 deficiency
DST (dystonin) related epidermolysis bullosa simplex
A rare hereditary basal epidermolysis bullosa simplex characterized by mild, predominantly acral, trauma-induced skin fragility, resulting in blisters. Blisters mostly affect the feet, including the dorsal side, and are often several centimeters big. There is evidence the disease is caused by homozygous mutation in the DST (BPAG1) gene on chromosome 6p12.
Associated morphologyepidermolyse
Finding sitestructuur van huid
Pathological processproces van pathologische ontwikkeling
referentieset met complexe 'mapping' naar ICD-10
AdviceALWAYS Q81.0
CorrelationSNOMED CT source code to target map code correlation not specified