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45116002: Sepiapterin reductase deficiency (disorder)


Status: current, Necessary but not sufficient concept definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module Reference Sets
75237014 Sepiapterin reductase deficiency en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core GB English: Preferred (foundation metadata concept)
75238016 7,8-Dihydrobiopterin synthetase deficiency en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core GB English: Acceptable (foundation metadata concept)
75239012 Biopterin deficiency en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core GB English: Acceptable (foundation metadata concept)
782320012 Sepiapterin reductase deficiency (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core GB English: Preferred (foundation metadata concept)

0 descendants.

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

Reference Sets

Description inactivation indicator reference set

GB English

US English

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