||
glycogeenstapelingsziekte met ernstige cardiomyopathie door glycogeendeficiëntie (aandoening)
glycogeenstapelingsziekte met ernstige cardiomyopathie door glycogeendeficiëntie
glycogeenstapelingsziekte met ernstige cardiomyopathie door deficiëntie van glycogeen
GSD type XV
Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency
Glycogen storage disease type 15
Glycogen storage disease type XV
Glycogenosis with severe cardiomyopathy due to glycogenin deficiency
An extremely rare genetic glycogen storage disease reported in one patient to date. Clinical signs included muscle weakness, cardiac arrhythmia associated with accumulation of abnormal storage material in the heart and glycogen depletion in skeletal muscle. Caused by compound heterozygous mutation in the glycogenin 1 (GYG1) gene, which encodes glycogenin-1, on chromosome 3q24.
Id717821004
StatusPrimitive
Occurrencecongenitaal
referentieset met complexe 'mapping' naar ICD-10
TargetE74.0
RuleTRUE
AdviceALWAYS E74.0 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified