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letale congenitale hypertrofische cardiomyopathie door glycogeenstapelingsziekte (aandoening)
letale congenitale hypertrofische cardiomyopathie door glycogeenstapelingsziekte
letale aangeboren myocardhypertrofie door glycogenose
fatale congenitale HCM door glycogeenstapelingsziekte
Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease
Fatal congenital hypertrophic cardiomyopathy due to glycogenosis
A rare glycogen storage disease with fetal or neonatal onset of severe cardiomyopathy with non-lysosomal glycogen accumulation and fatal outcome in infancy. Patients present with massive cardiomegaly, severe cardiac and respiratory complications and failure to thrive. Non-specific facial dysmorphism, bilateral cataracts, macroglossia, hydrocephalus, enlarged kidneys and skeletal muscle involvement have been reported in some cases.
Id1230303001
StatusPrimitive
Associated morphologyhypertrofie
Finding sitestructuur van myocardium
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
SNOMED CT to Orphanet simple map439854
SNOMED CT to ICD-10 extended map
TargetE74.0
RuleTRUE
AdviceALWAYS E74.0
CorrelationSNOMED CT source code to target map code correlation not specified
TargetI43.1
RuleTRUE
AdviceALWAYS I43.1 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION | THIS CODE MAY BE USED IN THE PRIMARY POSITION WHEN THE MANIFESTATION IS THE PRIMARY FOCUS OF CARE
CorrelationSNOMED CT source code to target map code correlation not specified