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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:

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

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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
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
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