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\Guanosine triphosphate cyclohydrolase I deficiency (disorder)

\Metabolic disease\Disorder of organic acid metabolism (disorder)\Disorder of amino acid metabolism (disorder)\Disorder of amino acid and organic acid metabolism\Aminoacidaemia\Hyperphenylalaninemia\Tetrahydrobiopterin synthesis defect\Guanosine triphosphate cyclohydrolase I deficiency (disorder)
\Metabolic disease\Disorder of organic acid metabolism (disorder)\Disorder of amino acid metabolism (disorder)\Disorder of amino acid and organic acid metabolism\Disorder of phenylalanine metabolism\Disorder of tetrahydrobiopterin metabolism\Tetrahydrobiopterin synthesis defect\Guanosine triphosphate cyclohydrolase I deficiency (disorder)
\Metabolic disease\Disorder of organic acid metabolism (disorder)\Disorder of amino acid metabolism (disorder)\Disorder of amino acid and organic acid metabolism\Disorder of phenylalanine metabolism\Hyperphenylalaninemia\Tetrahydrobiopterin synthesis defect\Guanosine triphosphate cyclohydrolase I deficiency (disorder)
\Metabolic disease\Disorder of acid-base balance\Acidemia\Aminoacidaemia\Hyperphenylalaninemia\Tetrahydrobiopterin synthesis defect\Guanosine triphosphate cyclohydrolase I deficiency (disorder)

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

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Guanosine triphosphate cyclohydrolase I deficiency (disorder)	Is a	Disorder of tetrahydrobiopterin metabolism	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Guanosine triphosphate cyclohydrolase I deficiency (disorder)	Is a	Hyperphenylalaninemia	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Guanosine triphosphate cyclohydrolase I deficiency (disorder)	Finding site	Body system structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Guanosine triphosphate cyclohydrolase I deficiency (disorder)	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Guanosine triphosphate cyclohydrolase I deficiency (disorder)	Is a	Tetrahydrobiopterin synthesis defect	true	Inferred relationship	Existential restriction modifier (core metadata concept)

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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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
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	Only initial character case insensitive (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	Only initial character 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
752968016	GTP cyclohydrolase I deficiency (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
752968016	GTP cyclohydrolase I deficiency (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
1223098015	Guanosine-5-triphosphate cyclohydrolase deficiency	en	Synonym (core metadata concept)	Active	Only initial character 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	Only initial character 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
2609120013	Guanosine triphosphate (GTP) cyclohydrolase I deficiency (disorder)	en	Fully specified name	Active	Only initial character case insensitive (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
3452081001000112	GTP-Cyclohydrolase I-Mangel	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
4465631000241114	déficit en guanosine triphosphate-cyclohydrolase I	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
4465631000241114	déficit en guanosine triphosphate-cyclohydrolase I	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3452081001000112	GTP-Cyclohydrolase I-Mangel	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module