autosomaal recessieve 'limb-girdle' spierdystrofie	autosomaal recessieve epidermolysis bullosa simplex	basale epidermolysis bullosa simplex	chronische huidziekte	congenitale musculaire dystrofie
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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 form of epidermolysis bullosa simplex (EBS) characterized by generalized blistering associated with muscular dystrophy.

Id	723308003
Status	Primitive

Associated morphology	epidermolyse
Finding site	structuur van stratum germinativum epidermidis
Occurrence	congenitaal
Pathological process	proces van pathologische ontwikkeling

Associated morphology	dystrofie
Finding site	structuur van skeletspier
Occurrence	congenitaal
Pathological process	proces van pathologische ontwikkeling

Clinical course

DHD Diagnosis thesaurus reference set

RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set

Target	Q81.0
Term	Epidermolysis bullosa simplex

Target	G70.9
Term	Neuromusculaire aandoening, niet gespecificeerd

SNOMED CT to Orphanet simple map

257

SNOMED CT to ICD-10 extended map

Target	Q81.0
Rule	TRUE
Advice	ALWAYS Q81.0
Correlation	SNOMED CT source code to target map code correlation not specified

Target	G71.0
Rule	TRUE
Advice	ALWAYS G71.0
Correlation	SNOMED CT source code to target map code correlation not specified