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

• SNOMED CT Concept\Clinical finding (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 (disorder)\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 (core metadata concept). Date: 31-Jan 2021. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
4029834017	Classical phenylketonuria with total deficiency of phenylalanine hydroxylase	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4029835016	Classical phenylketonuria with total deficiency of phenylalanine hydroxylase (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
10594041000172112	phénylcétonurie classique avec déficit total en phénylalanine hydroxylase	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
4356911000172112	klassieke PKU met volledige deficiëntie van fenylalaninehydroxylase	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
4356921000172119	klassieke fenylketonurie met totale deficiëntie van fenylalaninehydroxylase	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)

Expanded Value Set

Reference Sets

Belgian subset for neonatology in patient health records

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