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

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

\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Tetrahydrobiopterin synthesis defect\6-Pyruvoyl-tetrahydrobiopterin synthase 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\6-Pyruvoyl-tetrahydrobiopterin synthase 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\6-Pyruvoyl-tetrahydrobiopterin synthase 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\6-Pyruvoyl-tetrahydrobiopterin synthase deficiency
\Metabolic disease\Disorder of acid-base balance\Acidemia\Aminoacidemia\Hyperphenylalaninemia\Tetrahydrobiopterin synthesis defect\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

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
626713011 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core
3518314015 6-Pyruvoyl-tetrahydropterin synthase deficiency en Synonym (core metadata concept) 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 Switzerland NRC maintained Module
991391000172117 hyperphénylalaninémie par déficit en 6-pyruvoyl-tétrahydroptérine synthase fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
6-Pyruvoyl-tetrahydrobiopterin synthase deficiency	Is a	Tetrahydrobiopterin synthesis defect	true	Inferred relationship	Some
6-Pyruvoyl-tetrahydrobiopterin synthase deficiency	Finding site	Body system structure	false	Inferred relationship	Some
6-Pyruvoyl-tetrahydrobiopterin synthase deficiency	Occurrence	Congenital	false	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Description inactivation indicator reference set