autosomaal recessieve hereditaire aandoening	chronische stoornis van metabolisme	chronische ziekte van zenuwstelsel	congenitale degeneratie van zenuwstelsel	genetische verstandelijke beperking	hereditaire ontwikkelingsstoornis	neuronale ceroïdlipofuscinose
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neuronale ceroïdlipofuscinose type 8 (aandoening)
	neuronale ceroïdlipofuscinose type 8
	Neuronal ceroid lipofuscinosis 8
	Northern epilepsy Progressive epilepsy-intellectual disability syndrome Finnish type Progressive epilepsy with mental retardation

Id	703526007
Status	Primitive

Associated morphology	degeneratieve afwijking
Finding site	structuur van systema nervosum
Occurrence	congenitaal
Pathological process	proces van pathologische ontwikkeling

Clinical course

Has interpretation	gestoord
Interprets	intellectueel vermogen

Has interpretation	gestoord
Interprets	Adaptation behavior

DHD Diagnosis thesaurus reference set

RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set

Target	E75.4
Term	Neuronale ceroïde lipofuscinose

SNOMED CT to Orphanet simple map

1947

SNOMED CT to ICD-10 extended map

Target	E75.4
Rule	TRUE
Advice	ALWAYS E75.4 \| POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
Correlation	SNOMED CT source code to target map code correlation not specified