237914002: 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency (disorder)

SNOMED CT Concept\constatation clinique\Disease\...

\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Tetrahydrobiopterin synthesis defect (disorder)\6-Pyruvoyl-tetrahydrobiopterin synthase deficiency

\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)\6-Pyruvoyl-tetrahydrobiopterin synthase deficiency
\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)\6-Pyruvoyl-tetrahydrobiopterin synthase deficiency
\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)\6-Pyruvoyl-tetrahydrobiopterin synthase deficiency
\trouble métabolique\Disorder of acid-base balance\Acidemia\Aminoacidaemia\Hyperphenylalaninemia\Tetrahydrobiopterin synthesis defect (disorder)\6-Pyruvoyl-tetrahydrobiopterin synthase 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

3518314015 6-Pyruvoyl-tetrahydropterin synthase deficiency en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

356572019 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

356573012 6PTS - 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

549361000241116 déficit en 6-pyruvoyl-tétrahydroptérine synthase (trouble) fr Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)

626713011 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core

974761000172119 déficit en 6-pyruvoyl-tétrahydroptérine synthase fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)

991391000172117 hyperphénylalaninémie par déficit en 6-pyruvoyl-tétrahydroptérine synthase fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
6-Pyruvoyl-tetrahydrobiopterin synthase deficiency	localisation d'une constatation (attribut)	structure d'un système corporel	false	Inferred relationship	Some
6-Pyruvoyl-tetrahydrobiopterin synthase deficiency	survenue (attribut)	congénital	false	Inferred relationship	Some
6-Pyruvoyl-tetrahydrobiopterin synthase deficiency	est un(e) (attribut)	Tetrahydrobiopterin synthesis defect (disorder)	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Canada English language reference set (foundation metadata concept)

Description inactivation indicator reference set