autosomaal recessieve hereditaire aandoening	congenitale afwijking van binnenoor	congenitale afwijking van oor met gehoorverlies	congenitale cardiovasculaire aandoening	congenitale doofheid	hereditaire aandoening van auditief systeem	hereditaire aandoening van cardiovasculair systeem	hereditaire ontwikkelingsstoornis	sinusknoopdisfunctie
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sinusknoopdisfunctie en doofheid (aandoening)
	sinusknoopdisfunctie en doofheid
	Sinoatrial node dysfunction and deafness
	A rare genetic disease with characteristics of congenital severe to profound deafness with no evidence of vestibular dysfunction, associated with sinoatrial node dysfunction with pronounced bradycardia and increased variability of heart rate at rest and episodic syncopes that may be triggered by enhanced physical activity and stress. There is evidence this disease is caused by homozygous mutation in the CACNA1D gene on chromosome 3p21.

Id	770784003
Status	Primitive

Finding site	structuur van sinusknoop
Occurrence	congenitaal
Pathological process	proces van pathologische ontwikkeling

Associated morphology	morfologische afwijking
Finding site	structuur van binnenoor
Occurrence	congenitaal
Pathological process	proces van pathologische ontwikkeling

Finding site

structuur van atrium cordis

Interprets

DHD Diagnosis thesaurus reference set

RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set

Target	I49.8
Term	Overige gespecificeerde hartritmestoornissen

Target	H90.5
Term	Gehoorverlies door perceptiestoornis, niet gespecificeerd

SNOMED CT to Orphanet simple map

324321

SNOMED CT to ICD-10 extended map

Target	I49.8
Rule	TRUE
Advice	ALWAYS I49.8
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