7573000: Classical phenylketonuria (disorder)

• SNOMED CT Concept\constatation clinique\Disease\...
• \Genetic disease\maladie héréditaire\...
• \Inborn error of metabolism\Phenylketonuria (disorder)\Classical phenylketonuria
• \Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Phenylketonuria (disorder)\Classical phenylketonuria
• \trouble métabolique\Disorder of organic acid metabolism\Disorder of amino acid metabolism\Disorder of amino acid and organic acid metabolism\Aminoacidaemia\Hyperphenylalaninemia\Phenylketonuria (disorder)\Classical phenylketonuria
• \trouble métabolique\Disorder of organic acid metabolism\Disorder of amino acid metabolism\Disorder of amino acid and organic acid metabolism\Disorder of phenylalanine metabolism\Hyperphenylalaninemia\Phenylketonuria (disorder)\Classical phenylketonuria
• \trouble métabolique\Inborn error of metabolism\Phenylketonuria (disorder)\Classical phenylketonuria
• \trouble métabolique\Enzymopathy\Phenylketonuria (disorder)\Classical phenylketonuria
• \trouble métabolique\Disorder of acid-base balance\Acidemia\Aminoacidaemia\Hyperphenylalaninemia\Phenylketonuria (disorder)\Classical phenylketonuria
• \Congenital disease\Inborn error of metabolism\Phenylketonuria (disorder)\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
186131000172113	phénylcétonurie classique	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
390111000241115	phénylcétonurie classique (trouble)	fr	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
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

Expanded Value Set

Reference Sets

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