autosomaal dominante hereditaire aandoening	dysplasie van larynx	hereditaire corneadystrofie	hereditaire diffuse keratosis palmoplantaris	hereditaire keratinisatiestoornis	ruwe huid van handen
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syndroom van intra-epitheliale dyskeratose van cornea, palmoplantaire keratodermie en dyskeratose van larynx (aandoening)
	syndroom van intra-epitheliale dyskeratose van cornea, palmoplantaire keratodermie en dyskeratose van larynx
	syndroom van corneale intra-epitheliale dyskeratose, palmoplantaire hyperkeratose en dyskeratose van larynx
	Corneal intraepithelial dyskeratosis, palmoplantar hyperkeratosis, laryngeal dyskeratosis syndrome
	A rare genetic corneal dystrophy disorder with characteristics of corneal opacification and dyskeratosis (which may cause visual impairment), associated with systemic features including palmoplantar hyperkeratosis, laryngeal dyskeratosis, pruritic hyperkeratotic scars, chronic rhinitis, dyshidrosis and/or nail thickening.

Id	773577009
Status	Primitive

Associated morphology	dystrofie
Finding site	structuur van cornea

Has interpretation	afwijkend
Interprets	keratinisatie

Associated morphology	dyskeratose
Finding site	structuur van larynx

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

Associated morphology	hyperkeratose
Finding site	gehele huid van plantaire zijde van voet

DHD Diagnosis thesaurus reference set

RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set

Target	Q82.8
Term	Overige gespecificeerde congenitale misvormingen van huid

SNOMED CT to Orphanet simple map

352662

SNOMED CT to ICD-10 extended map

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