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Epidermolysis bullosa simplex due to BP230 deficiency (disorder)
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.
epidermolysis bullosa simplex door BP230-deficiƫntie
Id773501006
StatusPrimitive
Associated morphologyEpidermolysis
Finding siteSkin structure
OccurrenceCongenital
Pathological processPathological developmental process
DHD Diagnosis thesaurus reference set
ICD-10 complex map reference set
TargetQ81.0
RuleTRUE
AdviceALWAYS Q81.0
CorrelationSNOMED CT source code to target map code correlation not specified