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

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

808591013 Tetrahydrobiopterin synthesis defect (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Tetrahydrobiopterin synthesis defect (disorder)	est un(e) (attribut)	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Tetrahydrobiopterin synthesis defect (disorder)	est un(e) (attribut)	Disorder of tetrahydrobiopterin metabolism	true	Inferred relationship	Some
Tetrahydrobiopterin synthesis defect (disorder)	est un(e) (attribut)	Hyperphenylalaninemia	true	Inferred relationship	Some
Tetrahydrobiopterin synthesis defect (disorder)	localisation d'une constatation (attribut)	structure d'un système corporel	false	Inferred relationship	Some
Tetrahydrobiopterin synthesis defect (disorder)	survenue (attribut)	congénital	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
déficit en dihydroptéridine réductase (trouble)	est un(e) (attribut)	True	Tetrahydrobiopterin synthesis defect (disorder)	Inferred relationship	Some
Guanosine triphosphate cyclohydrolase I deficiency (disorder)	est un(e) (attribut)	True	Tetrahydrobiopterin synthesis defect (disorder)	Inferred relationship	Some
6-Pyruvoyl-tetrahydrobiopterin synthase deficiency	est un(e) (attribut)	True	Tetrahydrobiopterin synthesis defect (disorder)	Inferred relationship	Some
Pterin-4-carbinolamine dehydratase deficiency	est un(e) (attribut)	True	Tetrahydrobiopterin synthesis defect (disorder)	Inferred relationship	Some

This concept is not in any reference sets