41797007: 5,10-Methylenetetrahydrofolate reductase deficiency (disorder)

• SNOMED CT Concept\Clinical finding\Disease\...
• \Genetic disease\Hereditary disease\...
• \Hereditary metabolic disease\Inborn error of metabolism\Inherited disorder of folate metabolism\5,10-Methylenetetrahydrofolate reductase deficiency
• \Autosomal hereditary disorder\Autosomal recessive hereditary disorder\5,10-Methylenetetrahydrofolate reductase deficiency
• \Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited disorder of folate metabolism\5,10-Methylenetetrahydrofolate reductase deficiency
• \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\5,10-Methylenetetrahydrofolate reductase deficiency
• \Metabolic disease\Organic acid metabolism disorder\Inherited disorder of folate metabolism\5,10-Methylenetetrahydrofolate reductase deficiency
• \Metabolic disease\Enzymopathy\5,10-Methylenetetrahydrofolate reductase deficiency
• \Congenital disease\Inborn error of metabolism\Inherited disorder of folate metabolism\5,10-Methylenetetrahydrofolate reductase deficiency

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3035567016	Methylenetetrahydrofolate reductase deficiency	en	Synonym	Active	Case insensitive	SNOMED CT core
69726016	5,10-Methylenetetrahydrofolate reductase deficiency	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
778625014	5,10-Methylenetetrahydrofolate reductase deficiency (disorder)	en	Fully specified name	Active	Initial character 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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