Autosomal recessive hereditary disorder
Glycogen storage disease
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Glycogen storage disease due to aldolase A deficiency (disorder)
Glycogen storage disease due to aldolase A deficiency
Glycogenosis due to aldolase A deficiency
Glycogen storage disease type 12
Glycogenosis type 12
Glycogenosis type XII
Glycogen storage disease type XII
Glycogen storage disease due to aldolase A deficiency is an extremely rare glycogen storage disease characterized by hemolytic anemia with or without myopathy or intellectual deficit. Myopathy can be severe enough to result in fatal rhabdomyolysis in some patients. A family with episodic rhabdomyolysis (triggered by fever) without hemolytic anemia has recently been reported.
Id1187461004
StatusPrimitive
OccurrenceCongenital
SNOMED CT to Orphanet simple map
SNOMED CT to ICD-10 extended map
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