congenitale neuropathie	sialidose
\|	\|

sialidose type 1 (aandoening)
	sialidose type 1
	Sialidosis type 1
	Lipomucopolysaccharidosis Normomorphic sialidosis Cherry red spot myoclonus syndrome
	Sialidosis type 1 (ST-1) is a very rare lysosomal storage disease, and is the normosomatic form of sialidosis, characterized by gait abnormalities, progressive visual loss, bilateral macular cherry red spots and myoclonic epilepsy and ataxia, that usually presents in the second to third decade of life.

Id	723675006
Status	Primitive

Finding site	structuur van systema nervosum
Occurrence	congenitaal

Interprets

DHD Diagnosis thesaurus reference set

RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set

Target	E77.1
Term	Onvolledige glycoproteïneafbraak

SNOMED CT to Orphanet simple map

812

SNOMED CT to ICD-10 extended map

Target	E77.1
Rule	TRUE
Advice	ALWAYS E77.1 \| POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
Correlation	SNOMED CT source code to target map code correlation not specified