65791008: Adenine phosphoribosyltransferase deficiency, Japanese type (disorder)

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

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
109300016	APRT deficiency, Japanese type	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
2620973011	Adenine phosphoribosyltransferase (APRT) deficiency, Japanese type	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
2913515015	Adenine phosphoribosyltransferase deficiency, Japanese type (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
2914959012	Adenine phosphoribosyltransferase deficiency, Japanese type	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
790291000052115	brist på adeninfosforibosyl-transferas, japansk typ	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)

Expanded Value Set

This concept is not in any reference sets

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