440009: Persistent hyperphenylalaninemia (disorder)

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

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
1815015	Persistent hyperphenylalaninemia	en	Synonym	Active	Case insensitive	SNOMED CT core
1816019	Essential hyperphenylalaninemia	en	Synonym	Active	Case insensitive	SNOMED CT core
1817011	Hyperphenylalaninemia, type II	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
493753017	Persistent hyperphenylalaninaemia	en	Synonym	Active	Case insensitive	SNOMED CT core
493754011	Essential hyperphenylalaninaemia	en	Synonym	Active	Case insensitive	SNOMED CT core
493755012	Hyperphenylalaninaemia, type II	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
781079017	Persistent hyperphenylalaninemia (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Unit of use quantity reference set

Description inactivation indicator reference set

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