58256000: Dihydropteridine reductase deficiency (disorder)

• SNOMED CT Concept\constatation clinique\Disease\...
• \Genetic disease\maladie héréditaire\...
• \Inborn error of metabolism\déficit en dihydroptéridine réductase (trouble)
• \Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Tetrahydrobiopterin synthesis defect (disorder)\déficit en dihydroptéridine réductase (trouble)
• \trouble métabolique\Disorder of organic acid metabolism\Disorder of amino acid metabolism\Disorder of amino acid and organic acid metabolism\Aminoacidaemia\Hyperphenylalaninemia\Tetrahydrobiopterin synthesis defect (disorder)\déficit en dihydroptéridine réductase (trouble)
• \trouble métabolique\Disorder of organic acid metabolism\Disorder of amino acid metabolism\Disorder of amino acid and organic acid metabolism\Disorder of phenylalanine metabolism\Disorder of tetrahydrobiopterin metabolism\Tetrahydrobiopterin synthesis defect (disorder)\déficit en dihydroptéridine réductase (trouble)
• \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\Tetrahydrobiopterin synthesis defect (disorder)\déficit en dihydroptéridine réductase (trouble)
• \trouble métabolique\Inborn error of metabolism\déficit en dihydroptéridine réductase (trouble)
• \trouble métabolique\Enzymopathy\déficit en dihydroptéridine réductase (trouble)
• \trouble métabolique\Disorder of acid-base balance\Acidemia\Aminoacidaemia\Hyperphenylalaninemia\Tetrahydrobiopterin synthesis defect (disorder)\déficit en dihydroptéridine réductase (trouble)
• \Congenital disease\Inborn error of metabolism\déficit en dihydroptéridine réductase (trouble)

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
445511000241116	déficit en dihydroptéridine réductase (trouble)	fr	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
498119014	DHPR - Dihydropteridine reductase deficiency	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
498120015	Hyperphenylalaninaemia, type IV	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
796968013	Dihydropteridine reductase deficiency (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
894761000172116	déficit en dihydroptéridine réductase	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
907221000172115	hyperphénylalaninémie par déficit en dihydroptéridine réductase	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
96809014	Dihydropteridine reductase deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
96810016	Atypical phenylketonuria	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
96811017	DHPR deficiency	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
96812012	Hyperphenylalaninemia, type IV	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
96813019	Atypical PKU	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
96814013	Phenylketonuria II	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

Reference Sets

Client's clinical problems, conditions, diagnoses, symptoms, findings, complaints reference set (foundation metadata concept)

Most commonly used clinical problems, conditions, diagnoses, symptoms, findings and complaints, as interpreted by the provider reference set (foundation metadata concept)

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