autosomaal recessieve hereditaire aandoening	congenitale afwijking van skeletspier	hereditaire aandoening van bewegingsapparaat	hereditaire myopathie	hereditaire ontwikkelingsstoornis	malformatiesyndroom met betrokkenheid van meerdere systemen	palatoschisis
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Noord-Amerikaanse myopathie (aandoening)
	Noord-Amerikaanse myopathie
	syndroom van congenitale myopathie, gespleten gehemelte en maligne hyperthermie syndroom van congenitale myopathie, palatoschisis en maligne hyperthermie
	Native American myopathy
	Congenital myopathy, cleft palate. malignant hyperthermia syndrome
	Native American myopathy (NAM) is a neuromuscular disorder characterized by weakness, arthrogryposis, kyphoscoliosis, short stature, cleft palate, ptosis and susceptibility to malignant hyperthermia during anesthesia.

Id	723439002
Status	Primitive

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

Associated morphology	fusiedefect door stoornis in ontwikkeling
Finding site	structuur van palatum
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	G71.2
Term	Congenitale myopathieën

SNOMED CT to Orphanet simple map

168572

SNOMED CT to ICD-10 extended map

Target	G71.2
Rule	TRUE
Advice	ALWAYS G71.2 \| POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
Correlation	SNOMED CT source code to target map code correlation not specified