congenitale ziekte	degeneratieve aandoening	hereditaire ataxie	X-gebonden hereditaire recessieve aandoening
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X-gebonden neurodegeneratief syndroom Bertini-type (aandoening)
	X-gebonden neurodegeneratief syndroom Bertini-type
	X-linked neurodegenerative syndrome Bertini type
	An X-linked syndromic intellectual disability characterized by congenital ataxia and generalized hypotonia, global developmental delay with intellectual disability, myoclonic encephalopathy, progressive neurological deterioration, macular degeneration, and recurrent bronchopulmonary infections.

Id	718849008
Status	Primitive

Associated morphology	degeneratieve afwijking
Finding site	structuur van systema nervosum

Occurrence

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

SNOMED CT to Orphanet simple map

85334

SNOMED CT to ICD-10 extended map

Target	G31.8
Rule	TRUE
Advice	ALWAYS G31.8 \| POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
Correlation	SNOMED CT source code to target map code correlation not specified