Auditory system hereditary disorder	Autosomal recessive hereditary disorder	Congenital corneal dystrophy	Congenital hereditary endothelial dystrophy	Hearing loss associated with syndrome	Sensorineural hearing loss
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Congenital hereditary endothelial dystrophy and perceptive deafness syndrome (disorder)
	Congenital hereditary endothelial dystrophy and perceptive deafness syndrome
	Harboyan syndrome Corneal dystrophy and perceptive deafness syndrome Corneal dystrophy with progressive deafness
	A degenerative corneal disorder characterized by the association of congenital hereditary endothelial dystrophy with progressive postlingual sensorineural hearing loss. The ocular manifestations include diffuse bilateral corneal edema occurring with severe corneal clouding, blurred vision, visual loss and nystagmus. Caused by mutations in the SLC4A11 gene located at the CHED2 locus on chromosome 20p13p12.
	syndroom van congenitale hereditaire endotheeldystrofie en perceptief gehoorverlies
	corneadystrofie met progressieve doofheid

Id	720749004
Status	Primitive

Has interpretation	Impaired
Interprets	Hearing

Associated morphology	Dystrophy
Finding site	Structure of corneal endothelium
Occurrence	Congenital
Pathological process	Pathological developmental process

Finding site

Structure of auditory system

Associated morphology	Cellular AND/OR subcellular abnormality
Finding site	Chromosome pair 20
Occurrence	Congenital
Pathological process	Pathological developmental process

DHD Diagnosis thesaurus reference set

ICD-10 complex map reference set

Target	H18.5
Rule	TRUE
Advice	ALWAYS H18.5
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