237914002: 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency (disorder)

• SNOMED CT Concept\Clinical finding\Disease\...
• \Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Tetrahydrobiopterin synthesis defect\6-Pyruvoyl-tetrahydrobiopterin synthase deficiency
• \Metabolic disease\Disorder of organic acid metabolism\Disorder of amino acid metabolism\Disorder of amino acid and organic acid metabolism\Aminoacidemia\Hyperphenylalaninemia\Tetrahydrobiopterin synthesis defect\6-Pyruvoyl-tetrahydrobiopterin synthase deficiency
• \Metabolic disease\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\6-Pyruvoyl-tetrahydrobiopterin synthase deficiency
• \Metabolic disease\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\6-Pyruvoyl-tetrahydrobiopterin synthase deficiency
• \Metabolic disease\Disorder of acid-base balance\Acidemia\Aminoacidemia\Hyperphenylalaninemia\Tetrahydrobiopterin synthesis defect\6-Pyruvoyl-tetrahydrobiopterin synthase deficiency

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2002. Module: SNOMED CT core module

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
356572019	6-Pyruvoyl-tetrahydrobiopterin synthase deficiency	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
356573012	6PTS - 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
626713011	6-Pyruvoyl-tetrahydrobiopterin synthase deficiency (disorder)	en	Fully specified name	Active	Entire term case sensitive	SNOMED CT core module
3518314015	6-Pyruvoyl-tetrahydropterin synthase deficiency	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module

Expanded Value Set

This concept is not in any reference sets

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