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 tetrahydrofolate methyltransferase reductase deficiency AND homocystinuria
• \Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Methylene tetrahydrofolate methyltransferase reductase deficiency AND homocystinuria
• \Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited disorder of folate metabolism\Methylene tetrahydrofolate methyltransferase reductase deficiency AND homocystinuria
• \Metabolic disease\Disorder of organic acid metabolism\Disorder of amino acid metabolism\Disorder of amino acid and organic acid metabolism\Disorder of sulfur-bearing amino acid metabolism\Homocystinuria\Methylene tetrahydrofolate methyltransferase reductase deficiency AND homocystinuria
• \Metabolic disease\Disorder of organic acid metabolism\Inherited disorder of folate metabolism\Methylene tetrahydrofolate methyltransferase reductase deficiency AND homocystinuria
• \Metabolic disease\Enzymopathy\Methylene tetrahydrofolate methyltransferase reductase deficiency AND homocystinuria
• \Congenital disease\Inborn error of metabolism\Inherited disorder of folate metabolism\Methylene tetrahydrofolate methyltransferase reductase deficiency AND homocystinuria

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2002. Module: SNOMED CT core module

Descriptions:

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

Expanded Value Set

This concept is not in any reference sets

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