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

• SNOMED CT Concept\Clinical finding (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
• \Disorder of foetus and/or newborn\Congenital disease\Inborn error of metabolism\Inherited disorder of folate metabolism\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\Disorder of organic acid metabolism (disorder)\Disorder of amino acid metabolism (disorder)\Disorder of amino acid and organic acid metabolism\Disorder of sulphur-bearing amino acid metabolism\Homocystinuria\Methylene THF reductase deficiency AND homocystinuria
• \Metabolic disease\Disorder of organic acid metabolism (disorder)\Inherited disorder of folate metabolism\Methylene THF reductase deficiency AND homocystinuria
• \Metabolic disease\Enzymopathy\Methylene THF reductase deficiency AND homocystinuria

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
47037010	Methylene THF reductase deficiency AND homocystinuria	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
2913596015	Methylene tetrahydrofolate methyltransferase reductase deficiency AND homocystinuria	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
2913687014	Methylene tetrahydrofolate methyltransferase reductase deficiency AND homocystinuria (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
47037010	Methylene THF reductase deficiency AND homocystinuria	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
758734012	Methylene THF reductase deficiency AND homocystinuria (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
2913596015	Methylene tetrahydrofolate methyltransferase reductase deficiency AND homocystinuria	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
2913687014	Methylene tetrahydrofolate methyltransferase reductase deficiency AND homocystinuria (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

This concept is not in any reference sets

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