7573000: Classical phenylketonuria (disorder)

• SNOMED CT Concept\Clinical finding (finding)\Disease\...
• \Genetic disease\Hereditary disease\...
• \Hereditary metabolic disease\Inborn error of metabolism\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.\Classical phenylketonuria
• \Autosomal hereditary disorder\Autosomal recessive hereditary disorder\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.\Classical phenylketonuria
• \Disorder of foetus and/or newborn\Congenital disease\Inborn error of metabolism\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.\Classical phenylketonuria
• \Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\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.\Classical phenylketonuria
• \Metabolic disease\Disorder of organic acid metabolism (disorder)\Disorder of amino acid metabolism (disorder)\Disorder of amino acid and organic acid metabolism\Aminoacidaemia\Hyperphenylalaninemia\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.\Classical phenylketonuria
• \Metabolic disease\Disorder of organic acid metabolism (disorder)\Disorder of amino acid metabolism (disorder)\Disorder of amino acid and organic acid metabolism\Disorder of phenylalanine metabolism\Hyperphenylalaninemia\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.\Classical phenylketonuria
• \Metabolic disease\Enzymopathy\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.\Classical phenylketonuria
• \Metabolic disease\Disorder of acid-base balance\Acidemia\Aminoacidaemia\Hyperphenylalaninemia\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.\Classical phenylketonuria

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
13500018	Classical phenylketonuria	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
13505011	Imbecilitus phenylpyruvica	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
13507015	Hyperphenylalaninemia, type I	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
503105016	Severe phenylalanine hydroxylase deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
503108019	Hyperphenylalaninaemia, type I	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
816372014	Classical phenylketonuria (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
13500018	Classical phenylketonuria	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
13500018	Classical phenylketonuria	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
13501019	Phenylketonuria	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
13501019	Phenylketonuria	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
13502014	Folling's syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
13503016	Phenylalanine hydroxylase deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
13503016	Phenylalanine hydroxylase deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
13504010	PAH deficiency	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
13505011	Imbecilitus phenylpyruvica	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
13505011	Imbecilitus phenylpyruvica	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
13506012	PKU	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
13507015	Hyperphenylalaninemia, type I	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
13508013	Oligophrenia phenylpyruvica	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
13508013	Oligophrenia phenylpyruvica	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
503103011	PKU - Phenylketonuria	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
503104017	Phenylpyruvic oligophrenia	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
503104017	Phenylpyruvic oligophrenia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
503105016	Severe phenylalanine hydroxylase deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
503105016	Severe phenylalanine hydroxylase deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
503106015	PKU1 - Phenylketonuria	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
503107012	PAH - Phenylalanine hydroxylase deficiency	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
503108019	Hyperphenylalaninaemia, type I	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
816372014	Classical phenylketonuria (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
816372014	Classical phenylketonuria (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3442691001000118	Phenylketonurie, klassische	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
186131000172113	phénylcétonurie classique	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
186131000172113	phénylcétonurie classique	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3442691001000118	Phenylketonurie, klassische	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

This concept is not in any reference sets

Back to Start