hereditaire aandoening van zenuwstelsel	maculaire corneadystrofie	spinocerebellaire aandoening
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spinocerebellaire degeneratie gelijktijdig met maculaire corneadystrofie (aandoening)
	spinocerebellaire degeneratie gelijktijdig met maculaire corneadystrofie
	spastische ataxie met corneadystrofie
	Bedouin spastic ataxia syndrome
	Spinocerebellar degeneration co-occurrent with macular corneal dystrophy Spastic ataxia and corneal dystrophy Mousa-Al Din-Al Nassar syndrome
	Extremely rare syndrome with features of spastic ataxia in association with bilateral congenital cataract, corneal dystrophy, and nonaxial myopia. It has been described in an inbred Bedouin family. Immunological abnormalities were frequent. Transmission is autosomal recessive and the disease is monogenic.

Id	715465001
Status	Primitive

Finding site

structuur van medulla spinalis

Finding site

structuur van cerebellum

Associated morphology	dystrofie
Finding site	structuur van substantia propria corneae
Pathological process	proces van pathologische ontwikkeling

DHD Diagnosis thesaurus reference set

RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set

Target	G31.8
Term	Overige gespecificeerde degeneratieve ziekten van zenuwstelsel

Target	H18.5
Term	Hereditaire corneadystrofieën

SNOMED CT to Orphanet simple map

2572

SNOMED CT to ICD-10 extended map

Target	G31.8
Rule	TRUE
Advice	ALWAYS G31.8
Correlation	SNOMED CT source code to target map code correlation not specified

Target	H18.5
Rule	TRUE
Advice	ALWAYS H18.5
Correlation	SNOMED CT source code to target map code correlation not specified