45116002: Sepiapterin reductase deficiency (disorder)

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

\Disorder of organic acid metabolism\Disorder of amino acid metabolism\Disorder of amino acid and organic acid metabolism\...

\Aminoacidemia\Hyperphenylalaninemia\Sepiapterin reductase deficiency (disorder)

\Disorder of phenylalanine metabolism\Disorder of tetrahydrobiopterin metabolism\Sepiapterin reductase deficiency (disorder)
\Disorder of phenylalanine metabolism\Hyperphenylalaninemia\Sepiapterin reductase deficiency (disorder)

\Enzymopathy\Sepiapterin reductase deficiency (disorder)

\Disorder of acid-base balance\Acidemia\Aminoacidemia\Hyperphenylalaninemia\Sepiapterin reductase deficiency (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

75237014 Sepiapterin reductase deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
75238016 7,8-Dihydrobiopterin synthetase deficiency en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
75239012 Biopterin deficiency en Synonym (core metadata concept) Inactive Entire term case insensitive (core metadata concept) SNOMED CT core
782320012 Sepiapterin reductase deficiency (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
5989601000172117 déficit en sépiaptérine réductase fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)
4661731000172114 SPR-deficiëntie nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) Belgian module (core metadata concept)
4661741000172119 deficiëntie van sepiapterinereductase nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Sepiapterin reductase deficiency (disorder)	Is a	Disorder of tetrahydrobiopterin metabolism	true	Inferred relationship	Some
Sepiapterin reductase deficiency (disorder)	Is a	Enzymopathy	true	Inferred relationship	Some
Sepiapterin reductase deficiency (disorder)	Is a	Hyperphenylalaninemia	true	Inferred relationship	Some
Sepiapterin reductase deficiency (disorder)	Occurrence	Congenital	false	Inferred relationship	Some
Sepiapterin reductase deficiency (disorder)	Finding site	Body system structure	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Dopa responsive dystonia due to sepiapterin reductase deficiency (disorder)	Due to	True	Sepiapterin reductase deficiency (disorder)	Inferred relationship	Some	1

Reference Sets

Description inactivation indicator reference set