65791008: Adenine phosphoribosyltransferase deficiency, Japanese type (disorder)

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

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
109300016	APRT deficiency, Japanese type	en	Synonym	Active	Case sensitive	SNOMED CT core
2620973011	Adenine phosphoribosyltransferase (APRT) deficiency, Japanese type	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
2913515015	Adenine phosphoribosyltransferase deficiency, Japanese type (disorder)	en	Fully specified name	Active	Initial character case insensitive	SNOMED CT core
2914959012	Adenine phosphoribosyltransferase deficiency, Japanese type	en	Synonym	Active	Initial character 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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