13003007: Cystathioninuria (disorder)

• SNOMED CT Concept\Clinical finding\Disease\...
• \Genetic disease\Hereditary disease\...
• \Hereditary metabolic disease\Inborn error of metabolism\Inborn error of amino acid metabolism\Cystathioninuria
• \Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Cystathioninuria
• \Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Inborn error of amino acid metabolism\Cystathioninuria
• \Metabolic disease\Organic acid metabolism disorder\Disorder of amino acid metabolism\Disorder of amino acid and organic acid metabolism\Inborn error of amino acid metabolism\Cystathioninuria
• \Metabolic disease\Organic acid metabolism disorder\Disorder of amino acid metabolism\Disorder of amino acid and organic acid metabolism\Disorder of sulfur-bearing amino acid metabolism\Cystathioninuria
• \Congenital disease\Inborn error of metabolism\Inborn error of amino acid metabolism\Cystathioninuria

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
22267013	Cystathioninuria	en	Synonym	Active	Case insensitive	SNOMED CT core
474888013	CTH - Cystathioninuria	en	Synonym	Active	Case sensitive	SNOMED CT core
5144622010	Cystathionine gamma-lyase deficiency syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
734247015	Cystathioninuria (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
5144623017	A rare inborn error of metabolism with characteristics of abnormal accumulation of plasma cystathionine and subsequent increased urinary excretion due to cystathionine gamma-lyase deficiency. The condition is considered benign without pathological relevance. Mode of inheritance is autosomal recessive.	en	Definition	Active	Case sensitive	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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