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Glycogen storage disease type II infantile onset (disorder)
Glycogen storage disease due to acid maltase deficiency, infantile onset
Glycogenosis type II, infantile onset
Pompe disease, infantile onset
Glycogen storage disease type II infantile onset
Glycogenosis due to acid maltase deficiency, infantile onset
Glycogen storage disease (GSD) due to acid maltase deficiency, classical infantile onset (AMDI), is the most severe form of glycogen storage disease due to acid maltase deficiency. Characterized by cardiomegaly with respiratory distress, muscle weakness and feeding difficulties, it is potentially fatal.
glycogeenstapelingsziekte type II beginnend op zuigelingenleeftijd
op zuigelingenleeftijd optredende glycogeenstapelingsziekte type II
Id722302009
StatusPrimitive
OccurrenceCongenital
ICD-10 complex map reference set
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