aangeboren defect van stofwisseling	autosomaal recessieve hereditaire aandoening	enzymopathie	stoornis van metabolisme van bèta- en omega-aminozuur	stoornis van metabolisme van bèta-alanine, carnosine en/of homocarnosine
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deficiëntie van succinylsemi-aldehydedehydrogenase (aandoening)
	deficiëntie van succinylsemi-aldehydedehydrogenase
	succinylsemi-aldehydedehydrogenasedeficiëntie
	SSADH (succinic semialdehyde dehydrogenase) deficiency
	GABA metabolic defect 4-Hydroxybutyric aciduria Gamma-hydroxybutyric acidemia GABAuria Succinic semialdehyde dehydrogenase deficiency gamma-Hydroxybutyric aciduria Succinate-semialdehyde dehydrogenase deficiency

Id	49748000
Status	Primitive

Occurrence

DHD Diagnosis thesaurus reference set

RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set

Target	E72.8
Term	Overige gespecificeerde stofwisselingsstoornissen van aminozuren

SNOMED CT to Orphanet simple map

22

SNOMED CT to ICD-10 extended map

Target	E72.8
Rule	TRUE
Advice	ALWAYS E72.8
Correlation	SNOMED CT source code to target map code correlation not specified