epidermolysis bullosa simplex door exofiline-5-deficiƫntie (aandoening)
epidermolysis bullosa simplex door exofiline-5-deficiƫntie
Epidermolysis bullosa simplex due to exophilin 5 deficiency
A rare hereditary basal epidermolysis bullosa simplex characterized by mild, generalized trauma-induced scale crusts and intermittent blistering, sometimes combined with erosions and bleeding, recovering with slight scarring and post-inflammatory hyperpigmentation. Clinical symptoms improve with age. There is evidence the disease can be caused by homozygous mutation in the EXPH5 gene on chromosome 11q22.
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