45116002: Sepiapterin reductase deficiency (disorder)

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

\Disorder of organic acid metabolism (disorder)\Disorder of amino acid metabolism (disorder)\Disorder of amino acid and organic acid metabolism\...

\Aminoacidaemia\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\Aminoacidaemia\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

782320012 Sepiapterin reductase deficiency (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

75237014 Sepiapterin reductase deficiency en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

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) Active Entire term case sensitive (core metadata concept) SNOMED CT core

75239012 Biopterin deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

782320012 Sepiapterin reductase deficiency (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

782320012 Sepiapterin reductase deficiency (disorder) en Fully specified name Active Entire term case sensitive (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

3453761001000114 Dopa-responsive Dystonie durch Sepiapterin-Reduktase-Mangel de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

4537411000241112 déficit en sépiaptérine réductase fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

4537411000241112 déficit en sépiaptérine réductase fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

3453761001000114 Dopa-responsive Dystonie durch Sepiapterin-Reduktase-Mangel de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

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	Existential restriction modifier (core metadata concept)
Sepiapterin reductase deficiency (disorder)	Is a	Enzymopathy	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Sepiapterin reductase deficiency (disorder)	Is a	Hyperphenylalaninemia	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Sepiapterin reductase deficiency (disorder)	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Sepiapterin reductase deficiency (disorder)	Finding site	Body system structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Dopa responsive dystonia due to sepiapterin reductase deficiency	Due to	True	Sepiapterin reductase deficiency (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)	1

This concept is not in any reference sets