890436003: Classical phenylketonuria with total deficiency of phenylalanine hydroxylase (disorder)

• SNOMED CT Concept\Clinical finding\Disease\...
• \Genetic disease\Hereditary disease\...
• \Hereditary metabolic disease\Inborn error of metabolism\Phenylketonuria\Classical phenylketonuria\Classical phenylketonuria with total deficiency of phenylalanine hydroxylase
• \Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Phenylketonuria\Classical phenylketonuria\Classical phenylketonuria with total deficiency of phenylalanine hydroxylase
• \Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Phenylketonuria\Classical phenylketonuria\Classical phenylketonuria with total deficiency of phenylalanine hydroxylase
• \Metabolic disease\Disorder of organic acid metabolism\Disorder of amino acid metabolism\Disorder of amino acid and organic acid metabolism\Aminoacidemia\Hyperphenylalaninemia\Phenylketonuria\Classical phenylketonuria\Classical phenylketonuria with total deficiency of phenylalanine hydroxylase
• \Metabolic disease\Disorder of organic acid metabolism\Disorder of amino acid metabolism\Disorder of amino acid and organic acid metabolism\Disorder of phenylalanine metabolism\Hyperphenylalaninemia\Phenylketonuria\Classical phenylketonuria\Classical phenylketonuria with total deficiency of phenylalanine hydroxylase
• \Metabolic disease\Enzymopathy\Phenylketonuria\Classical phenylketonuria\Classical phenylketonuria with total deficiency of phenylalanine hydroxylase
• \Metabolic disease\Disorder of acid-base balance\Acidemia\Aminoacidemia\Hyperphenylalaninemia\Phenylketonuria\Classical phenylketonuria\Classical phenylketonuria with total deficiency of phenylalanine hydroxylase
• \Congenital disease\Inborn error of metabolism\Phenylketonuria\Classical phenylketonuria\Classical phenylketonuria with total deficiency of phenylalanine hydroxylase

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2021. Module: SNOMED CT core module

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
4029834017	Classical phenylketonuria with total deficiency of phenylalanine hydroxylase	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
4029835016	Classical phenylketonuria with total deficiency of phenylalanine hydroxylase (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module

Expanded Value Set

This concept is not in any reference sets

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