124275001: Deficiency of hypoxanthine phosphoribosyltransferase (disorder)

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

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
203921018	Deficiency of hypoxanthine-guanine phosphoribosyltransferase	en	Synonym	Active	Case insensitive	SNOMED CT core
203922013	Deficiency of guanine phosphoribosyltransferase	en	Synonym	Active	Case insensitive	SNOMED CT core
203923015	Deficiency of IMP pyrophosphorylase	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
203924014	Deficiency of hypoxanthine phosphoribosyltransferase	en	Synonym	Active	Case insensitive	SNOMED CT core
727849014	Deficiency of hypoxanthine phosphoribosyltransferase (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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