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syndroom van maternaal overervende cardiomyopathie en gehoorverlies (aandoening)
syndroom van maternaal overervende cardiomyopathie en gehoorverlies
Maternally inherited cardiomyopathy and hearing loss syndrome
Maternally inherited cardiomyopathy and deafness
A mitochondrial disease described in two unrelated families to date that has a heterogeneous clinical presentation. The syndrome features the association of progressive sensorineural hearing loss with hypertrophic cardiomyopathy and in the majority of cases, encephalomyopathy symptoms such as ataxia, slurred speech, progressive external ophthalmoparesis, muscle weakness, myalgia and exercise intolerance.
Id724173009
StatusPrimitive
Interpretsgehoorfunctie
Associated morphologyhypertrofie
Finding sitestructuur van myocardium
referentieset met complexe 'mapping' naar ICD-10
TargetI42.2
RuleTRUE
AdviceALWAYS I42.2 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified
TargetH90.5
RuleTRUE
AdviceALWAYS H90.5
CorrelationSNOMED CT source code to target map code correlation not specified