190687004: Phenylketonuria (disorder)

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

Status: current, Primitive. Date: 30-Jun 2022. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
2760235015	Phenylketonuria (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
293081015	Phenylketonuria	en	Synonym	Active	Case insensitive	SNOMED CT core
5067029016	PKU - phenylketonuria	en	Synonym	Active	Case sensitive	SNOMED CT core
5067030014	PAH (phenylalanine hydroxylase) deficiency	en	Synonym	Active	Case sensitive	SNOMED CT core
5067031013	Phenylalanine hydroxylase deficiency	en	Synonym	Active	Case insensitive	SNOMED CT core
5067032018	Folling disease	en	Synonym	Active	Case sensitive	SNOMED CT core
5067033011	Oligophrenia phenylpyruvica	en	Synonym	Active	Case insensitive	SNOMED CT core
5067034017	A rare inborn error of amino acid metabolism with characteristics of elevated blood phenylalanine and low levels or absence of phenylalanine hydroxylase enzyme. If not detected early or left untreated, the disorder manifests with mild to severe mental disability. The most common form of the condition is known as classical phenylketonuria and has severe symptoms. A mild form has also been described (mild PKU), and an even milder form known as mild hyperphenylalaninaemia (mild HPA or non-PKU HPA). A subset of patients with milder phenotypes has been found to be responsive to tetrahydrobiopterin (BH4), the cofactor of phenylalanine hydroxylase (BH4-responsive HPA). The disease is caused by a wide range of variants in the PAH gene (12q22-q24.2) coding for phenylalanine hydroxylase. Transmission is autosomal recessive.	en	Definition	Active	Case sensitive	SNOMED CT core
5067035016	A rare inborn error of amino acid metabolism with characteristics of elevated blood phenylalanine and low levels or absence of phenylalanine hydroxylase enzyme. If not detected early or left untreated, the disorder manifests with mild to severe mental disability. The most common form of the condition is known as classical phenylketonuria and has severe symptoms. A mild form has also been described (mild PKU), and an even milder form known as mild hyperphenylalaninemia (mild HPA or non-PKU HPA). A subset of patients with milder phenotypes has been found to be responsive to tetrahydrobiopterin (BH4), the cofactor of phenylalanine hydroxylase (BH4-responsive HPA). The disease is caused by a wide range of variants in the PAH gene (12q22-q24.2) coding for phenylalanine hydroxylase. Transmission is autosomal recessive.	en	Definition	Active	Case sensitive	SNOMED CT core

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