238009001: Adenine phosphoribosyl transferase deficiency type I (disorder)

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

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
356740015	Adenine phosphoribosyl transferase deficiency type I	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
626827014	Adenine phosphoribosyl transferase deficiency type I (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

Reference Sets

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