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 hyperphenylalaninaemia\Persistent hyperphenylalaninaemia AND tyrosinaemia
• \Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Phenylketonuria\Classical phenylketonuria\Persistent hyperphenylalaninaemia\Persistent hyperphenylalaninaemia AND tyrosinaemia
• \Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Phenylketonuria\Classical phenylketonuria\Persistent hyperphenylalaninaemia\Persistent hyperphenylalaninaemia AND tyrosinaemia
• \Metabolic disease\Organic acid metabolism disorder\Disorder of amino acid metabolism\Disorder of amino acid and organic acid metabolism\Aminoacidaemia\Hyperphenylalaninaemia\Phenylketonuria\Classical phenylketonuria\Persistent hyperphenylalaninaemia\Persistent hyperphenylalaninaemia AND tyrosinaemia
• \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\Classical phenylketonuria\Persistent hyperphenylalaninaemia\Persistent hyperphenylalaninaemia AND tyrosinaemia
• \Metabolic disease\Enzymopathy\Phenylketonuria\Classical phenylketonuria\Persistent hyperphenylalaninaemia\Persistent hyperphenylalaninaemia AND tyrosinaemia
• \Metabolic disease\Disorder of acid-base balance\Acidaemia\Aminoacidaemia\Hyperphenylalaninaemia\Phenylketonuria\Classical phenylketonuria\Persistent hyperphenylalaninaemia\Persistent hyperphenylalaninaemia AND tyrosinaemia
• \Congenital disease\Inborn error of metabolism\Phenylketonuria\Classical phenylketonuria\Persistent hyperphenylalaninaemia\Persistent hyperphenylalaninaemia AND tyrosinaemia

Status: current, Primitive. Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

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

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Australian dialect reference set

Problem/Diagnosis reference set

Description inactivation indicator reference set

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