40751003: Persistent hyperphenylalaninemia AND tyrosinemia (disorder)

• SNOMED CT Concept\Clinical finding\Disease\...
• \Genetic disease\Hereditary disease\...
• \Hereditary metabolic disease\Inborn error of metabolism\Phenylketonuria\Classical phenylketonuria\Persistent hyperphenylalaninemia\Persistent hyperphenylalaninemia AND tyrosinemia
• \Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Phenylketonuria\Classical phenylketonuria\Persistent hyperphenylalaninemia\Persistent hyperphenylalaninemia AND tyrosinemia
• \Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Phenylketonuria\Classical phenylketonuria\Persistent hyperphenylalaninemia\Persistent hyperphenylalaninemia AND tyrosinemia
• \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\Persistent hyperphenylalaninemia\Persistent hyperphenylalaninemia AND tyrosinemia
• \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\Persistent hyperphenylalaninemia\Persistent hyperphenylalaninemia AND tyrosinemia
• \Metabolic disease\Enzymopathy\Phenylketonuria\Classical phenylketonuria\Persistent hyperphenylalaninemia\Persistent hyperphenylalaninemia AND tyrosinemia
• \Metabolic disease\Disorder of acid-base balance\Acidemia\Aminoacidemia\Hyperphenylalaninemia\Phenylketonuria\Classical phenylketonuria\Persistent hyperphenylalaninemia\Persistent hyperphenylalaninemia AND tyrosinemia
• \Congenital disease\Inborn error of metabolism\Phenylketonuria\Classical phenylketonuria\Persistent hyperphenylalaninemia\Persistent hyperphenylalaninemia AND tyrosinemia

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
67972016	Persistent hyperphenylalaninemia AND tyrosinemia	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module
67974015	Hyperphenylalaninemia, type VI	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module
492764013	Hyperphenylalaninaemia, type VI	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module
492765014	Persistent hyperphenylalaninaemia AND tyrosinaemia	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module
777453017	Persistent hyperphenylalaninemia AND tyrosinemia (disorder)	en	Fully specified name	Active	Only initial character case insensitive	SNOMED CT core module

Expanded Value Set

This concept is not in any reference sets

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