58256000: Dihydropteridine reductase deficiency (disorder)

• SNOMED CT Concept\Clinical finding\Disease\...
• \Genetic disease\Hereditary disease\...
• \Hereditary metabolic disease\Inborn error of metabolism\Dihydropteridine reductase deficiency
• \Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Tetrahydrobiopterin synthesis defect\Dihydropteridine reductase deficiency
• \Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Dihydropteridine reductase deficiency
• \Metabolic disease\Organic acid metabolism disorder\Disorder of amino acid metabolism\Disorder of amino acid and organic acid metabolism\Aminoacidaemia\Hyperphenylalaninaemia\Tetrahydrobiopterin synthesis defect\Dihydropteridine reductase deficiency
• \Metabolic disease\Organic acid metabolism disorder\Disorder of amino acid metabolism\Disorder of amino acid and organic acid metabolism\Disorder of phenylalanine metabolism\Disorder of tetrahydrobiopterin metabolism\Tetrahydrobiopterin synthesis defect\Dihydropteridine reductase deficiency
• \Metabolic disease\Organic acid metabolism disorder\Disorder of amino acid metabolism\Disorder of amino acid and organic acid metabolism\Disorder of phenylalanine metabolism\Hyperphenylalaninaemia\Tetrahydrobiopterin synthesis defect\Dihydropteridine reductase deficiency
• \Metabolic disease\Enzymopathy\Dihydropteridine reductase deficiency
• \Metabolic disease\Disorder of acid-base balance\Acidaemia\Aminoacidaemia\Hyperphenylalaninaemia\Tetrahydrobiopterin synthesis defect\Dihydropteridine reductase deficiency
• \Congenital disease\Inborn error of metabolism\Dihydropteridine reductase deficiency

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
498119014	DHPR - Dihydropteridine reductase deficiency	en	Synonym	Active	Case sensitive	SNOMED CT core
498120015	Hyperphenylalaninaemia, type IV	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
796968013	Dihydropteridine reductase deficiency (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
96809014	Dihydropteridine reductase deficiency	en	Synonym	Active	Case insensitive	SNOMED CT core
96810016	Atypical phenylketonuria	en	Synonym	Active	Case insensitive	SNOMED CT core
96811017	DHPR deficiency	en	Synonym	Active	Case sensitive	SNOMED CT core
96812012	Hyperphenylalaninemia, type IV	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
96813019	Atypical PKU	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
96814013	Phenylketonuria II	en	Synonym	Active	Initial character case insensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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