Autosomal recessive hereditary disorder
Disorder of tetrahydrobiopterin metabolism
Hereditary metabolic disease
Hyperphenylalaninemia
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Tetrahydrobiopterin synthesis defect (disorder)
Tetrahydrobiopterin synthesis defect
Deficiency of tetrahydrobiopterin
Hyperphenylalaninemia due to tetrahydrobiopterin deficiency
Hyperphenylalaninemia due to BH4 (tetrahydrobiopterin) deficiency
synthesedefect van tetrahydrobiopterine
tetrahydrobiopterinesynthesedefect
Id68724006
StatusPrimitive
ICD-10 complex map reference set
TargetE70.1
RuleTRUE
AdviceALWAYS E70.1
CorrelationSNOMED CT source code to target map code correlation not specified
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6-Pyruvoyl-tetrahydrobiopterin synthase deficiency
Dihydropteridine reductase deficiency
GTP cyclohydrolase I deficiency
Pterin-4-carbinolamine dehydratase deficiency