autosomaal recessieve hereditaire aandoening	congenitale afwijking van darm	congenitale afwijking van visueel systeem	hereditaire aandoening van spijsverteringsstelsel	hereditaire aandoening van visueel systeem	hereditaire ontwikkelingsstoornis	intestinale pseudo-obstructie
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oculogastro-intestinale spierdystrofie (aandoening)
	oculogastro-intestinale spierdystrofie
	syndroom van viscerale myopathie en familiaire externe oftalmoplegie
	Oculogastrointestinal muscular dystrophy
	Visceral myopathy with familial external ophthalmoplegia syndrome
	An extremely rare autosomal recessively inherited neuromuscular disease characterized by ocular manifestations such as ptosis and diplopia followed by chronic diarrhea, malnutrition and intestinal pseudo-obstruction.

Id	722060007
Status	Primitive

Associated morphology	pseudo-obstructie
Finding site	structuur van intestinum
Occurrence	congenitaal
Pathological process	proces van pathologische ontwikkeling

Associated morphology	morfologische afwijking
Finding site	structuur van visueel systeem
Occurrence	congenitaal
Pathological process	proces van pathologische ontwikkeling

DHD Diagnosis thesaurus reference set

RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set

Target	G71.0
Term	Spierdystrofie

SNOMED CT to Orphanet simple map

1876

SNOMED CT to ICD-10 extended map

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