68724006: Tetrahydrobiopterin synthesis defect (disorder)

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

\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Tetrahydrobiopterin synthesis defect

\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
\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
\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
\Metabolic disease\Disorder of acid-base balance\Acidemia\Aminoacidemia\Hyperphenylalaninemia\Tetrahydrobiopterin synthesis defect

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

808591013 Tetrahydrobiopterin synthesis defect (disorder) en Fully specified name 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

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Tetrahydrobiopterin synthesis defect	Is a	Disorder of tetrahydrobiopterin metabolism	true	Inferred relationship	Some
Tetrahydrobiopterin synthesis defect	Is a	Hyperphenylalaninemia	true	Inferred relationship	Some
Tetrahydrobiopterin synthesis defect	Finding site	Body system structure	false	Inferred relationship	Some
Tetrahydrobiopterin synthesis defect	Occurrence	Congenital	false	Inferred relationship	Some
Tetrahydrobiopterin synthesis defect	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
6-Pyruvoyl-tetrahydrobiopterin synthase deficiency	Is a	True	Tetrahydrobiopterin synthesis defect	Inferred relationship	Some
Pterin-4-carbinolamine dehydratase deficiency	Is a	True	Tetrahydrobiopterin synthesis defect	Inferred relationship	Some
Dihydropteridine reductase deficiency	Is a	True	Tetrahydrobiopterin synthesis defect	Inferred relationship	Some
GTP cyclohydrolase I deficiency	Is a	True	Tetrahydrobiopterin synthesis defect	Inferred relationship	Some

This concept is not in any reference sets