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familiaire hypertryptofanemie (aandoening)
familiaire hypertryptofanemie
familiale hypertryptofanemie
Familial hypertryptophanemia
A rare inborn error of metabolism characterized by congenital hypertryptophanemia and hyperserotonemia. Patients are typically asymptomatic, although developmental delay, intellectual disability, and behavioral abnormalities, among others, have been reported in association.
Id721838005
StatusPrimitive
DHD Diagnosis thesaurus reference set
SNOMED CT to Orphanet simple map2224
SNOMED CT to ICD-10 extended map
TargetE70.8
RuleTRUE
AdviceALWAYS E70.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified