23447005: Guanosine triphosphate cyclohydrolase I deficiency (disorder)

• SNOMED CT Concept\Clinical finding\Disease\...
• \Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Tetrahydrobiopterin synthesis defect\Guanosine triphosphate cyclohydrolase I 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\Guanosine triphosphate cyclohydrolase I 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\Guanosine triphosphate cyclohydrolase I 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\Guanosine triphosphate cyclohydrolase I deficiency
• \Metabolic disease\Disorder of acid-base balance\Acidemia\Aminoacidemia\Hyperphenylalaninemia\Tetrahydrobiopterin synthesis defect\Guanosine triphosphate cyclohydrolase I 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
39368014	GTP cyclohydrolase I deficiency	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
39369018	Hyperphenylalaninemia with neopterin deficiency	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
481622017	Hyperphenylalaninaemia with neopterin deficiency	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
1223098015	Guanosine-5-triphosphate cyclohydrolase deficiency	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
1223099011	GTP - Guanosine-5-triphosphate cyclohydrolase deficiency	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
2619564015	Guanosine triphosphate (GTP) cyclohydrolase I deficiency	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module
2914468019	Guanosine triphosphate cyclohydrolase I deficiency (disorder)	en	Fully specified name	Active	Only initial character case insensitive	SNOMED CT core module
2914750018	Guanosine triphosphate cyclohydrolase I deficiency	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module

Expanded Value Set

This concept is not in any reference sets

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