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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 rare mitochondrial disease that has a heterogeneous clinical presentation characterized by 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 (PEO), muscle weakness, myalgia, and exercise intolerance.
Id724173009
StatusPrimitive
Interpretsgehoorfunctie
Associated morphologyhypertrofie
Finding sitestructuur van myocardium
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetI42.2
TermOverige hypertrofische cardiomyopathie
TargetH90.5
TermGehoorverlies door perceptiestoornis, niet gespecificeerd
SNOMED CT to Orphanet simple map1349
SNOMED CT to ICD-10 extended map
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