52452006: Fumarylacetoacetase deficiency, chronic type (disorder)

• SNOMED CT Concept\Clinical finding\Disease\...
• \Genetic disease\Hereditary disease\Hereditary metabolic disease\Hereditary hypertyrosinaemia\Fumarylacetoacetase deficiency, chronic type
• \Metabolic disease\Hereditary metabolic disease\Hereditary hypertyrosinaemia\Fumarylacetoacetase deficiency, chronic type
• \Metabolic disease\Organic acid metabolism disorder\Disorder of amino acid metabolism\Disorder of amino acid and organic acid metabolism\Aminoacidaemia\Hypertyrosinaemia\Hereditary hypertyrosinaemia\Fumarylacetoacetase deficiency, chronic type
• \Metabolic disease\Organic acid metabolism disorder\Disorder of amino acid metabolism\Disorder of amino acid and organic acid metabolism\Disorder of tyrosine metabolism\Tyrosinosis\Fumarylacetoacetase deficiency, chronic type
• \Metabolic disease\Organic acid metabolism disorder\Disorder of amino acid metabolism\Disorder of amino acid and organic acid metabolism\Disorder of tyrosine metabolism\Hypertyrosinaemia\Hereditary hypertyrosinaemia\Fumarylacetoacetase deficiency, chronic type
• \Metabolic disease\Enzymopathy\Specific enzyme deficiency\Deficiency of fumarylacetoacetase\Fumarylacetoacetase deficiency, chronic type
• \Metabolic disease\Disorder of acid-base balance\Acidaemia\Aminoacidaemia\Hypertyrosinaemia\Hereditary hypertyrosinaemia\Fumarylacetoacetase deficiency, chronic type

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
496320017	Tyrosinaemia with hepatorenal dysfunction	en	Synonym	Active	Case insensitive	SNOMED CT core
790463017	Fumarylacetoacetase deficiency, chronic type (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
87281014	Fumarylacetoacetase deficiency, chronic type	en	Synonym	Active	Case insensitive	SNOMED CT core
87283012	Chronic tyrosinosis	en	Synonym	Active	Case insensitive	SNOMED CT core
87284018	Tyrosinemia with hepatorenal dysfunction	en	Synonym	Active	Case insensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Australian dialect reference set

Problem/Diagnosis reference set

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