||
glycogeenstapelingsziekte door deficiëntie van fosfoglyceraatkinase 1 (aandoening)
glycogeenstapelingsziekte door deficiëntie van fosfoglyceraatkinase 1
glycogenose door deficiëntie van fosfoglyceraatkinase 1
Glycogen storage disease due to phosphoglycerate kinase 1 deficiency
Glycogenosis due to phosphoglycerate kinase 1 deficiency
A rare inborn error of metabolism characterized by variable combinations of non-spherocytic hemolytic anemia, myopathy, and various central nervous system abnormalities.
Id1187462006
StatusPrimitive
Occurrencecongenitaal
SNOMED CT to Orphanet simple map713
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