fosforylase-b-kinasedeficiëntie	X-gebonden hereditaire recessieve aandoening
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glycogeenstapelingsziekte door deficiëntie van spiergebonden glycogeenfosforylasekinase (aandoening)
	glycogeenstapelingsziekte door deficiëntie van spiergebonden glycogeenfosforylasekinase
	glycogenose door spiergebonden glycogeenfosforylasekinasedeficiëntie GSD-9
	Glycogen storage disease due to muscle phosphorylase kinase deficiency
	Glycogenosis type 9D Glycogen storage disease type 9D Glycogen storage disease type IXd
	Glycogen storage disease due to muscle phosphorylase kinase (PhK) deficiency is a benign inborn error of glycogen metabolism characterized by exercise intolerance.

Id	819953000
Status	Primitive

Finding site	structuur van lever
Occurrence	congenitaal

DHD Diagnosis thesaurus reference set

RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set

Target	E74.0
Term	Glycogeenstapelingsziekte

SNOMED CT to Orphanet simple map

715

SNOMED CT to ICD-10 extended map

Target	E74.0
Rule	TRUE
Advice	ALWAYS E74.0 \| POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
Correlation	SNOMED CT source code to target map code correlation not specified