autosomaal recessieve hereditaire aandoening	congenitale dystrofie van cornea	congenitale hereditaire endotheeldystrofie	gehoorverlies bij syndroom	hereditaire aandoening van auditief systeem	perceptief gehoorverlies
\|	\|	\|	\|	\|	\|

syndroom van congenitale hereditaire endotheeldystrofie en perceptief gehoorverlies (aandoening)
	syndroom van congenitale hereditaire endotheeldystrofie en perceptief gehoorverlies
	corneadystrofie met progressieve doofheid
	Congenital hereditary endothelial dystrophy and perceptive deafness syndrome
	Harboyan syndrome Corneal dystrophy and perceptive deafness syndrome Corneal dystrophy with progressive deafness
	Corneal dystrophy-perceptive deafness (CDPD) or Harboyan syndrome is a degenerative corneal disorder characterized by the association of congenital hereditary endothelial dystrophy with progressive, postlingual sensorineural hearing loss.

Id	720749004
Status	Primitive

Has interpretation	gestoord
Interprets	gehoorfunctie

Associated morphology	dystrofie
Finding site	structuur van endotheel van cornea
Occurrence	congenitaal
Pathological process	proces van pathologische ontwikkeling

Finding site

structuur van auditief systeem

Associated morphology	cellulaire en/of subcellulaire afwijking
Finding site	chromosomenpaar 20
Occurrence	congenitaal
Pathological process	proces van pathologische ontwikkeling

DHD Diagnosis thesaurus reference set

RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set

Target	H18.5
Term	Hereditaire corneadystrofieën

Target	H90.5
Term	Gehoorverlies door perceptiestoornis, niet gespecificeerd

SNOMED CT to Orphanet simple map

1490

SNOMED CT to ICD-10 extended map

Target	H18.5
Rule	TRUE
Advice	ALWAYS H18.5 \| POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
Correlation	SNOMED CT source code to target map code correlation not specified

Target	H90.5
Rule	TRUE
Advice	ALWAYS H90.5
Correlation	SNOMED CT source code to target map code correlation not specified