360378009: Homogentisate 1,2-dioxygenase deficiency (disorder)

• SNOMED CT Concept\Clinical finding\Disease\...
• \Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Homogentisate 1,2-dioxygenase deficiency
• \Metabolic disease\Organic acid metabolism disorder\Disorder of amino acid metabolism\Disorder of amino acid and organic acid metabolism\Disorder of tyrosine metabolism\Homogentisate 1,2-dioxygenase deficiency
• \Metabolic disease\Enzymopathy\Specific enzyme deficiency\Homogentisate 1,2-dioxygenase deficiency

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3761212010	Hereditary ochronosis	en	Synonym	Active	Case insensitive	SNOMED CT core
3761213017	Alkaptonuria	en	Synonym	Active	Case insensitive	SNOMED CT core
476122011	Homogentisicaciduria	en	Synonym	Active	Case insensitive	SNOMED CT core
476123018	Deficiency of homogentisate 1,2-dioxygenase	en	Synonym	Active	Case insensitive	SNOMED CT core
476124012	Deficiency of homogentisate oxygenase	en	Synonym	Active	Case insensitive	SNOMED CT core
476125013	Homogentisic acid oxidase deficiency	en	Synonym	Active	Case insensitive	SNOMED CT core
476126014	Deficiency of homogentisicase	en	Synonym	Active	Case insensitive	SNOMED CT core
476127017	Homogentisate 1,2-dioxygenase deficiency	en	Synonym	Active	Case insensitive	SNOMED CT core
740109011	Homogentisate 1,2-dioxygenase 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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