autosomaal recessieve hereditaire aandoening	hereditaire aandoening van zenuwstelsel	hereditaire keratinisatiestoornis	keratosis punctata, palmaris et plantaris	leukencefalopathie	ruwe huid van handen
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syndroom van leukencefalopathie en keratosis palmoplantaris (aandoening)
	syndroom van leukencefalopathie en keratosis palmoplantaris
	Leukoencephalopathy, palmoplantar keratoderma syndrome
	A rare genetic epidermal disease with characteristics of early childhood-onset of punctate palmoplantar keratoderma in association with adult-onset leukoencephalopathy manifested by progressive tetrapyramidal syndrome and cognitive deterioration.

Id	771184001
Status	Primitive

Has interpretation	afwijkend
Interprets	keratinisatie

Associated morphology	morfologische afwijking
Finding site	structuur van substantia alba van cerebrum

Associated morphology	hyperkeratose
Finding site	structuur van huid van voetzool

Associated morphology	hyperkeratose
Finding site	structuur van huid van palmaire zijde van hand

DHD Diagnosis thesaurus reference set

RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set

Target	G93.4
Term	Encefalopathie, niet gespecificeerd

Target	Q82.8
Term	Overige gespecificeerde congenitale misvormingen van huid

SNOMED CT to Orphanet simple map

2386

SNOMED CT to ICD-10 extended map

Target	G93.4
Rule	TRUE
Advice	ALWAYS G93.4
Correlation	SNOMED CT source code to target map code correlation not specified

Target	Q82.8
Rule	TRUE
Advice	ALWAYS Q82.8 \| POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
Correlation	SNOMED CT source code to target map code correlation not specified