Autosomal recessive hereditary disorder
Congenital myopathy
Glycogen storage disease, muscular form
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Glycogen storage disease due to muscle beta-enolase deficiency (disorder)
Glycogen storage disease due to muscle beta-enolase deficiency
GSDXIII - glycogen storage disease type XIII
Muscle enolase deficiency
Glycogenosis type 13
Glycogenosis due to muscle beta-enolase deficiency
Muscle beta-enolase deficiency is a glycolysis with clinical characteristics of exercise intolerance and myalgia due to severe enolase deficiency in muscle.
glycogeenstapelingsziekte door deficiëntie van bèta-enolase in spier
glycogenose door bèta-enolasedeficiëntie in spier
GSD type 13
GSDXIII
Id1162916008
StatusPrimitive
Due toDeficiency of enolase
Finding siteSkeletal muscle structure
OccurrenceCongenital
ICD-10 complex map reference set
TargetE74.0
RuleTRUE
AdviceALWAYS E74.0
CorrelationSNOMED CT source code to target map code correlation not specified