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\GTP cyclohydrolase I 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\GTP cyclohydrolase I 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\GTP cyclohydrolase I 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\GTP cyclohydrolase I deficiency
• \Metabolic disease\Disorder of acid-base balance\Acidaemia\Aminoacidaemia\Hyperphenylalaninaemia\Tetrahydrobiopterin synthesis defect\GTP cyclohydrolase I deficiency

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
1223098015	Guanosine-5-triphosphate cyclohydrolase deficiency	en	Synonym	Active	Case insensitive	SNOMED CT core
1223099011	GTP - Guanosine-5-triphosphate cyclohydrolase deficiency	en	Synonym	Active	Case sensitive	SNOMED CT core
2619564015	Guanosine triphosphate (GTP) cyclohydrolase I deficiency	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
2914468019	Guanosine triphosphate cyclohydrolase I deficiency (disorder)	en	Fully specified name	Active	Initial character case insensitive	SNOMED CT core
2914750018	Guanosine triphosphate cyclohydrolase I deficiency	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
39368014	GTP cyclohydrolase I deficiency	en	Synonym	Active	Case sensitive	SNOMED CT core
39369018	Hyperphenylalaninemia with neopterin deficiency	en	Synonym	Active	Case insensitive	SNOMED CT core
481622017	Hyperphenylalaninaemia with neopterin deficiency	en	Synonym	Active	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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