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glycogeenstapelingsziekte door deficiëntie van spiergebonden glycogeenfosforylasekinase (aandoening)
glycogeenstapelingsziekte door deficiëntie van spiergebonden glycogeenfosforylasekinase
glycogenose door spiergebonden glycogeenfosforylasekinasedeficiëntie
GSD-9
Glycogen storage disease due to muscle phosphorylase kinase deficiency
Glycogen storage disease type 9D
Glycogen storage disease type IXd
Glycogenosis type 9D
A very rare benign inborn error of glycogen metabolism with characteristic of exercise intolerance. The disease starts generally in adolescence or adulthood. Patients may present with exercise intolerance with myalgia, cramps, fatigue, and sometimes myoglobinuria. In some cases, patients may present with progressive muscle weakness. Phosphorylase kinase (PhK) is an enzyme which plays a key role in the regulation of glycogenolysis as it is required for glycogen phosphorylase activation. It consists of four copies of each four subunits (alpha, beta, gamma and calmodulin) encoded by different genes on different chromosomes and differentially expressed in various tissues.
Id819953000
StatusPrimitive
Finding sitestructuur van lever
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