aandoening van perifere zenuw door stoornis van metabolisme	autosomaal recessieve hereditaire aandoening	hereditaire aandoening van bewegingsapparaat	hereditaire aandoening van visueel systeem	hereditaire ataxie	hereditaire myopathie	neuromusculaire aandoening	progressieve externe oftalmoplegie	secundaire myopathie	sensorische ataxie	uitval van nervus	verworven dysartrie
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syndroom van sensorische atactische neuropathie, dysartrie en oftalmoparese (aandoening)
	syndroom van sensorische atactische neuropathie, dysartrie en oftalmoparese
	syndroom van sensorische atactische neuropathie, dysartrie en oftalmoplegie SANDO
	Sensory ataxic neuropathy with dysarthria and ophthalmoparesis syndrome
	SANDO (sensory ataxic neuropathy dysarthria ophthalmoparesis) syndrome
	A rare mitochondrial disease characterized by adult onset of the triad of sensory ataxic neuropathy, dysarthria, and ophthalmoparesis. Additional signs and symptoms are highly variable and include myopathy, seizures, and hearing loss, among others. Brain imaging may show cerebellar white matter abnormalities and/or bilateral thalamic lesions.

Id	717266001
Status	Primitive

Due to

mitochondriale cytopathie

Occurrence

Finding site

structuur van perifere zenuw

Clinical course

Finding site

structuur van extraoculaire spier

Has interpretation	afwezig
Interprets	Movement observable

Interprets

observatie betreffende spraak

DHD Diagnosis thesaurus reference set

SNOMED CT to Orphanet simple map

70595

SNOMED CT to ICD-10 extended map

Target	G60.2
Rule	TRUE
Advice	ALWAYS G60.2
Correlation	SNOMED CT source code to target map code correlation not specified

Target	R47.1
Rule	TRUE
Advice	ALWAYS R47.1
Correlation	SNOMED CT source code to target map code correlation not specified

Target	H49.4
Rule	TRUE
Advice	ALWAYS H49.4
Correlation	SNOMED CT source code to target map code correlation not specified