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epidermolysis bullosa simplex met spierdystrofie (aandoening)
epidermolysis bullosa simplex met spierdystrofie
epidermolysis bullosa simplex met musculaire dystrofie
Epidermolysis bullosa simplex with muscular dystrophy
Limb girdle muscular dystrophy with epidermolysis bullosa simplex
A basal subtype of epidermolysis bullosa simplex characterized by generalized blistering associated with muscular dystrophy. Onset of blistering is usually as early as birth, muscular dystrophy manifests between infancy and adulthood. Blisters are often hemorrhagic and heal with mild atrophic scarring and rare milia formation. Associated findings comprise markedly dystrophic nails, and focal keratoderma of the palms and soles. Extracutaneous involvement is usually present. Caused by mutations in the PLEC gene (8q24) encoding plectin. Plectin deficiency can be demonstrated in skin and muscle by analysis with specific antibodies. Transmission is autosomal recessive.
Id723308003
StatusPrimitive
Associated morphologydystrofie
Finding sitestructuur van skeletspier
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Clinical courseprogressief
DHD Diagnosethesaurus-referentieset
DHD Verrichtingenthesaurus-referentieset
referentieset met complexe 'mapping' naar ICD-10
TargetQ81.0
RuleTRUE
AdviceALWAYS Q81.0
CorrelationSNOMED CT source code to target map code correlation not specified
TargetG71.0
RuleTRUE
AdviceALWAYS G71.0
CorrelationSNOMED CT source code to target map code correlation not specified