autosomaal recessieve hereditaire aandoening	cerebellaire ataxie	hereditaire ataxie	leukencefalopathie
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autosomaal recessieve spastische ataxie met leukencefalopathie (aandoening)
	autosomaal recessieve spastische ataxie met leukencefalopathie
	autosomaal recessieve spastische ataxie met leuko-encefalopathie SPAX3 autosomaal recessieve spastische ataxie type 3
	Autosomal recessive spastic ataxia with leukoencephalopathy
	ARSAL - autosomal recessive spastic ataxia with leukoencephalopathy SPAX3 - autosomal recessive spastic ataxia type 3 Autosomal recessive spastic ataxia type 3
	A rare genetic autosomal recessive spastic ataxia disease with characteristics of cerebellar ataxia, spasticity, cerebellar (and in some cases cerebral) atrophy, dystonia and leukoencephalopathy. Caused by homozygous or compound heterozygous complex genomic rearrangements involving the MARS2 gene on chromosome 2q33.

Id	784343003
Status	Primitive

Finding site

structuur van substantia alba van cerebrum

Finding site

structuur van cerebellum

DHD Diagnosis thesaurus reference set

RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set

Target	G11.4
Term	Hereditaire spastische paraplegie

Target	G93.4
Term	Encefalopathie, niet gespecificeerd

SNOMED CT to Orphanet simple map

314603

SNOMED CT to ICD-10 extended map

Target	G11.4
Rule	TRUE
Advice	ALWAYS G11.4 \| POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
Correlation	SNOMED CT source code to target map code correlation not specified

Target	G93.4
Rule	TRUE
Advice	ALWAYS G93.4
Correlation	SNOMED CT source code to target map code correlation not specified