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syndroom van hypertrofische cardiomyopathie met hypotonie en lactaatacidose (aandoening)
syndroom van hypertrofische cardiomyopathie met hypotonie en lactaatacidose
Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome
This syndrome has characteristics of hypertrophic cardiomyopathy, muscular hypotonia and the presence of lactic acidosis at birth. It has been described in two sisters (both of whom died within the first year of life) from a non-consanguineous Turkish family. The syndrome is caused by a homozygous point mutation in the exon 3A of the SLC25A3 gene encoding a mitochondrial membrane transporter.
Id718713000
StatusPrimitive
Associated morphologyhypertrofie
Finding sitestructuur van myocardium
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
referentieset met complexe 'mapping' naar ICD-10
TargetG71.3
RuleTRUE
AdviceALWAYS G71.3 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified