124274002: Deficiency of adenine phosphoribosyltransferase (disorder)

• SNOMED CT Concept\Clinical finding\Disease\...
• \Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Deficiency of AMP pyrophorylase
• \Metabolic disease\Purine and pyrimidine metabolism disorder\Disorder of purine metabolism\Deficiency of AMP pyrophorylase
• \Metabolic disease\Enzymopathy\Specific enzyme deficiency\Deficiency of transferase\Deficiency of AMP pyrophorylase

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
1220689016	Adenine phosphoribosyl transferase deficiency	en	Synonym	Active	Case insensitive	SNOMED CT core
203916016	Deficiency of transphosphoribosidase	en	Synonym	Inactive	Initial character case insensitive	SNOMED CT core
203917013	Deficiency of AMP pyrophorylase	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
203918015	Deficiency of adenine phosphoribosyltransferase	en	Synonym	Active	Case insensitive	SNOMED CT core
727844016	Deficiency of adenine 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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