68724006: Tetrahydrobiopterin synthesis defect (disorder)

• SNOMED CT Concept\constatation clinique\Disease\...
• \Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Tetrahydrobiopterin synthesis defect (disorder)
• \trouble métabolique\Disorder of organic acid metabolism\Disorder of amino acid metabolism\Disorder of amino acid and organic acid metabolism\Aminoacidaemia\Hyperphenylalaninemia\Tetrahydrobiopterin synthesis defect (disorder)
• \trouble métabolique\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 (disorder)
• \trouble métabolique\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 (disorder)
• \trouble métabolique\Disorder of acid-base balance\Acidemia\Aminoacidaemia\Hyperphenylalaninemia\Tetrahydrobiopterin synthesis defect (disorder)

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
114149013	Tetrahydrobiopterin synthesis defect	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
114150013	Tetrahydrobiopterin synthesis defect, NOS	en	Synonym (core metadata concept)	Inactive	Only initial character case insensitive (core metadata concept)	SNOMED CT core
114151012	Hyperphenylalaninemia, type V	en	Synonym (core metadata concept)	Inactive	Only initial character case insensitive (core metadata concept)	SNOMED CT core
4570794013	Hyperphenylalanineaemia due to BH4 (tetrahydrobiopterin) deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
4570795014	Hyperphenylalanineaemia due to tetrahydrobiopterin deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4570796010	Hyperphenylalaninemia due to BH4 (tetrahydrobiopterin) deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
4570797018	Deficiency of tetrahydrobiopterin	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4570798011	Hyperphenylalaninemia due to tetrahydrobiopterin deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
501082011	Hyperphenylalaninaemia, type V	en	Synonym (core metadata concept)	Inactive	Only initial character case insensitive (core metadata concept)	SNOMED CT core
808591013	Tetrahydrobiopterin synthesis defect (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

This concept is not in any reference sets

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