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deficiëntie van dimethylglycinedehydrogenase (aandoening)
deficiëntie van dimethylglycinedehydrogenase
dimethylglycinedehydrogenasedeficiëntie
Deficiency of dimethylglycine dehydrogenase
Dimethylglycine dehydrogenase deficiency
An extremely rare autosomal recessive glycine metabolism disorder characterized clinically in the single reported case to date by muscle fatigue and a fish-like odor.
Id719449007
StatusPrimitive
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetE72.5
TermStoornissen van glycinemetabolisme
SNOMED CT to Orphanet simple map243343
SNOMED CT to ICD-10 extended map
TargetE72.5
RuleTRUE
AdviceALWAYS E72.5
CorrelationSNOMED CT source code to target map code correlation not specified