autosomaal recessieve hereditaire aandoening	congenitale afwijking van huid	hereditaire aandoening van integumentum	hereditaire degeneratieve aandoening van centraal zenuwstelsel	hereditaire ontwikkelingsstoornis	leukodystrofie
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dermatoleukodystrofie (aandoening)
	dermatoleukodystrofie
	Dermatoleukodystrophy
	This syndrome is characterized by the association of a progressive leukodystrophy marked by generalized mental and motor impairment with the presence of thickened and wrinkled skin. It has been described in a Japanese brother and sister born to healthy parents. Both patients died in early childhood.

Id	733044009
Status	Primitive

Associated morphology	verandering van myelineschede
Finding site	structuur van gemyeliniseerde zenuwvezel

Associated morphology	morfologische afwijking
Finding site	structuur van huid
Occurrence	congenitaal
Pathological process	proces van pathologische ontwikkeling

Associated morphology	dystrofie
Finding site	structuur van substantia alba van hersenen en ruggenmerg

DHD Diagnosis thesaurus reference set

RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set

Target	E75.2
Term	Overige gespecificeerde sfingolipidosen

SNOMED CT to Orphanet simple map

1659

SNOMED CT to ICD-10 extended map

Target	E75.2
Rule	TRUE
Advice	ALWAYS E75.2 \| POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
Correlation	SNOMED CT source code to target map code correlation not specified