autosomaal dominante hereditaire aandoening	gehoorverlies bij syndroom	hereditaire aandoening van auditief systeem	hereditaire aandoening van cardiovasculair systeem	hypertrofische cardiomyopathie	perceptief gehoorverlies
\|	\|	\|	\|	\|	\|

syndroom van progressief perceptief gehoorverlies en hypertrofische cardiomyopathie (aandoening)
	syndroom van progressief perceptief gehoorverlies en hypertrofische cardiomyopathie
	Progressive sensorineural hearing loss and hypertrophic cardiomyopathy syndrome
	Progressive sensorineural deafness and hypertrophic cardiomyopathy syndrome
	An extremely rare disorder described in one family to date that has characteristics of progressive, late onset, autosomal dominant sensorineural hearing loss, QT interval prolongation and mild cardiac hypertrophy.

Id	719272007
Status	Primitive

Interprets

Associated morphology	hypertrofie
Finding site	structuur van myocardium

Finding site

structuur van auditief systeem

DHD Diagnosis thesaurus reference set

RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set

Target	H90.5
Term	Gehoorverlies door perceptiestoornis, niet gespecificeerd

Target	I42.2
Term	Overige hypertrofische cardiomyopathie

SNOMED CT to Orphanet simple map

228012

SNOMED CT to ICD-10 extended map

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

Target	I42.2
Rule	TRUE
Advice	ALWAYS I42.2
Correlation	SNOMED CT source code to target map code correlation not specified