||
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
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetE74.0
TermGlycogeenstapelingsziekte
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