45116002: deficiëntie van sepiapterinereductase (aandoening)

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 of phenylalanine metabolism\Disorder of tetrahydrobiopterin metabolism\Sepiapterin reductase deficiency
\Disorder of phenylalanine metabolism\Hyperphenylalaninemia\Sepiapterin reductase deficiency

\Enzymopathy\Sepiapterin reductase deficiency

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

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

5092041000146117 deficiëntie van sepiapterinereductase nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

5092051000146119 deficiëntie van sepiapterinereductase (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

5092061000146116 SPR-deficiëntie nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Sepiapterin reductase deficiency	Is a	Disorder of tetrahydrobiopterin metabolism	true	Inferred relationship	Some
Sepiapterin reductase deficiency	Is a	Enzymopathy	true	Inferred relationship	Some
Sepiapterin reductase deficiency	Is a	Hyperphenylalaninemia	true	Inferred relationship	Some
Sepiapterin reductase deficiency	Occurrence	Congenital	false	Inferred relationship	Some
Sepiapterin reductase deficiency	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	Inferred relationship	Some	1

Reference Sets

Description inactivation indicator reference set