1003938005: Phenylketonuria due to tetrahydrobiopterin deficiency (disorder)

• SNOMED CT Concept\Clinical finding\Disease\...
• \Genetic disease\Hereditary disease\...
• \Hereditary metabolic disease\Inborn error of metabolism\Phenylketonuria\Phenylketonuria due to tetrahydrobiopterin deficiency
• \Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Phenylketonuria\Phenylketonuria due to tetrahydrobiopterin deficiency
• \Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Phenylketonuria\Phenylketonuria due to tetrahydrobiopterin deficiency
• \Metabolic disease\Organic acid metabolism disorder\Disorder of amino acid metabolism\Disorder of amino acid and organic acid metabolism\Aminoacidaemia\Hyperphenylalaninaemia\Phenylketonuria\Phenylketonuria due to tetrahydrobiopterin deficiency
• \Metabolic disease\Organic acid metabolism disorder\Disorder of amino acid metabolism\Disorder of amino acid and organic acid metabolism\Disorder of phenylalanine metabolism\Hyperphenylalaninaemia\Phenylketonuria\Phenylketonuria due to tetrahydrobiopterin deficiency
• \Metabolic disease\Enzymopathy\Phenylketonuria\Phenylketonuria due to tetrahydrobiopterin deficiency
• \Metabolic disease\Disorder of acid-base balance\Acidaemia\Aminoacidaemia\Hyperphenylalaninaemia\Phenylketonuria\Phenylketonuria due to tetrahydrobiopterin deficiency
• \Congenital disease\Inborn error of metabolism\Phenylketonuria\Phenylketonuria due to tetrahydrobiopterin deficiency

Status: current, Primitive. Date: 31-Jan 2021. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
4167012011	Phenylketonuria due to BH4 deficiency	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
4167014012	Phenylketonuria due to tetrahydrobiopterin deficiency	en	Synonym	Active	Case insensitive	SNOMED CT core
4167524012	Phenylketonuria due to tetrahydrobiopterin deficiency (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Clinical finding foundation reference set

Problem/Diagnosis reference set

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