15285008: Adenylosuccinate lyase deficiency (disorder)

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

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
2475495014	Deficiency of adenylosuccinate lyase	en	Synonym	Active	Case insensitive	SNOMED CT core
25935013	Adenylosuccinate lyase deficiency	en	Synonym	Active	Case insensitive	SNOMED CT core
25936014	Succinylpurinemic autism	en	Synonym	Active	Case insensitive	SNOMED CT core
25937017	Succinyladenosinuria	en	Synonym	Active	Case insensitive	SNOMED CT core
25938010	Adenylosuccinate deficiency	en	Synonym	Active	Case insensitive	SNOMED CT core
477269019	Succinylpurinaemic autism	en	Synonym	Active	Case insensitive	SNOMED CT core
477270018	ASase - Adenylosuccinate lyase deficiency	en	Synonym	Active	Case sensitive	SNOMED CT core
742058015	Adenylosuccinate lyase deficiency (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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