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glycogeenstapelingsziekte door deficiëntie van bèta-enolase in spier (aandoening)
glycogeenstapelingsziekte door deficiëntie van bèta-enolase in spier
glycogenose door bèta-enolasedeficiëntie in spier
GSD type 13
GSDXIII
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
A rare glycolysis disorder characterized clinically by exercise intolerance and myalgia due to severe enolase deficiency in muscle.
Id1162916008
StatusPrimitive
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetE74.0
TermGlycogeenstapelingsziekte
SNOMED CT to Orphanet simple map99849
SNOMED CT to ICD-10 extended map
TargetE74.0
RuleTRUE
AdviceALWAYS E74.0
CorrelationSNOMED CT source code to target map code correlation not specified