autosomaal recessieve hereditaire aandoening	congenitale neuropathie	neuronale ceroïdlipofuscinose
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neuronale ceroïdlipofuscinose door cathepsine D-deficiëntie (aandoening)
	neuronale ceroïdlipofuscinose door cathepsine D-deficiëntie
	neuronale ceroïdlipofuscinose door deficiëntie van cathepsine D
	Congenital neuronal ceroid lipofuscinosis
	Neuronal ceroid lipofuscinosis due to cathepsin D deficiency Neuronal ceroid lipofuscinosis 10 Cathepsin D deficient neuronal ceroid lipofuscinosis Neuronal ceroid lipofuscinosis due to deficiency of cathepsin D

Id	720830009
Status	Primitive

Due to

cathepsine D-deficiëntie

Associated morphology	degeneratieve afwijking
Finding site	structuur van systema nervosum
Occurrence	congenitaal

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

168486

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