28093001: Methylene tetrahydrofolate methyltransferase reductase deficiency AND homocystinuria (disorder)

• SNOMED CT Concept\Clinical finding\Disease\...
• \Genetic disease\Hereditary disease\...
• \Hereditary metabolic disease\Inborn error of metabolism\Inherited disorder of folate metabolism\Methylene THF reductase deficiency AND homocystinuria
• \Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Methylene THF reductase deficiency AND homocystinuria
• \Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited disorder of folate metabolism\Methylene THF reductase deficiency AND homocystinuria
• \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\Homocystinuria\Methylene THF reductase deficiency AND homocystinuria
• \Metabolic disease\Organic acid metabolism disorder\Inherited disorder of folate metabolism\Methylene THF reductase deficiency AND homocystinuria
• \Metabolic disease\Enzymopathy\Methylene THF reductase deficiency AND homocystinuria
• \Congenital disease\Inborn error of metabolism\Inherited disorder of folate metabolism\Methylene THF reductase deficiency AND homocystinuria

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
2913596015	Methylene tetrahydrofolate methyltransferase reductase deficiency AND homocystinuria	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
2913687014	Methylene tetrahydrofolate methyltransferase reductase deficiency AND homocystinuria (disorder)	en	Fully specified name	Active	Initial character case insensitive	SNOMED CT core
47037010	Methylene THF reductase deficiency AND homocystinuria	en	Synonym	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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