238007004: Partial hypoxanthine-guanine phosphoribosyltransferase deficiency (disorder)

• SNOMED CT Concept\Clinical finding\Disease\Metabolic disease\Enzymopathy\Specific enzyme deficiency\Deficiency of transferase\Deficiency of hypoxanthine phosphoribosyltransferase\Partial hypoxanthine-guanine phosphoribosyltransferase deficiency

Status: current, Primitive. Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
356737015	Partial hypoxanthine-guanine phosphoribosyltransferase deficiency	en	Synonym	Active	Case insensitive	SNOMED CT core
356738013	Partial HGPRT deficiency	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
626824019	Partial hypoxanthine-guanine phosphoribosyltransferase deficiency (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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