23447005: Guanosine triphosphate cyclohydrolase I deficiency (disorder)

SNOMED CT Concept\Clinical finding (finding)\Disease\...

\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Tetrahydrobiopterin synthesis defect\GTP 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\GTP 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\GTP 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\GTP cyclohydrolase I deficiency
\Metabolic disease\Disorder of acid-base balance\Acidemia\Aminoacidemia\Hyperphenylalaninemia\Tetrahydrobiopterin synthesis defect\GTP cyclohydrolase I deficiency

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

39368014 GTP cyclohydrolase I deficiency en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

39369018 Hyperphenylalaninemia with neopterin deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

481622017 Hyperphenylalaninaemia with neopterin deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

1223098015 Guanosine-5-triphosphate cyclohydrolase deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

1223099011 GTP - Guanosine-5-triphosphate cyclohydrolase deficiency en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

2619564015 Guanosine triphosphate (GTP) cyclohydrolase I deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

2914468019 Guanosine triphosphate cyclohydrolase I deficiency (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

2914750018 Guanosine triphosphate cyclohydrolase I deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
GTP cyclohydrolase I deficiency	Is a	Disorder of tetrahydrobiopterin metabolism	false	Inferred relationship	Some
GTP cyclohydrolase I deficiency	Is a	Hyperphenylalaninemia	false	Inferred relationship	Some
GTP cyclohydrolase I deficiency	Finding site	Body system structure	false	Inferred relationship	Some
GTP cyclohydrolase I deficiency	Occurrence	Congenital	false	Inferred relationship	Some
GTP cyclohydrolase I deficiency	Is a	Tetrahydrobiopterin synthesis defect	true	Inferred relationship	Some

Inbound Relationships

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This concept is not in any reference sets