autosomaal recessieve epidermolysis bullosa simplex
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epidermolysis bullosa simplex door BP230-deficiëntie (aandoening)
epidermolysis bullosa simplex door BP230-deficiëntie
Epidermolysis bullosa simplex due to BP230 deficiency
DST (dystonin) related epidermolysis bullosa simplex
A rare, inherited, epidermolysis bullosa simplex characterized by mild, predominantly acral, trauma-induced skin fragility, resulting in blisters. Blisters mostly affect the feet, including the dorsal side.
Id773501006
StatusPrimitive
Associated morphologyepidermolyse
Finding sitestructuur van huid
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetQ81.0
TermEpidermolysis bullosa simplex
SNOMED CT to Orphanet simple map412181
SNOMED CT to ICD-10 extended map
TargetQ81.0
RuleTRUE
AdviceALWAYS Q81.0
CorrelationSNOMED CT source code to target map code correlation not specified