41013004: Argininosuccinate lyase deficiency (disorder)

• SNOMED CT Concept\Clinical finding\Disease\...
• \Genetic disease\Hereditary disease\...
• \Hereditary metabolic disease\Inborn error of metabolism\Argininosuccinate lyase deficiency
• \Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Argininosuccinate lyase deficiency
• \Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Argininosuccinate lyase deficiency
• \Metabolic disease\Organic acid metabolism disorder\Disorder of amino acid metabolism\Disorder of amino acid and organic acid metabolism\Disorder of the urea cycle metabolism\Argininosuccinate lyase deficiency
• \Metabolic disease\Enzymopathy\Specific enzyme deficiency\Argininosuccinate lyase deficiency
• \Congenital disease\Inborn error of metabolism\Argininosuccinate lyase deficiency

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
2477785019	Deficiency of argininosuccinate lyase	en	Synonym	Active	Case insensitive	SNOMED CT core
68418017	Argininosuccinate lyase deficiency	en	Synonym	Active	Case insensitive	SNOMED CT core
68419013	Argininosuccinic aciduria	en	Synonym	Active	Case insensitive	SNOMED CT core
68420019	ASAL deficiency	en	Synonym	Active	Case sensitive	SNOMED CT core
68421015	ASL deficiency	en	Synonym	Active	Case sensitive	SNOMED CT core
777754012	Argininosuccinate 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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