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

SNOMED CT Concept\Clinical finding (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

\Disorder of foetus and/or newborn\Congenital disease (disorder)\Inborn error of metabolism\Inherited disorder of folate metabolism\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\Disorder of organic acid metabolism\Disorder of amino acid metabolism\Disorder of amino acid and organic acid metabolism\Disorder of sulphur-bearing amino acid metabolism\5,10-Methylenetetrahydrofolate reductase deficiency
\Metabolic disease\Disorder of organic acid metabolism\Inherited disorder of folate metabolism\5,10-Methylenetetrahydrofolate reductase deficiency
\Metabolic disease\Enzymopathy\5,10-Methylenetetrahydrofolate reductase deficiency

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

69726016 5,10-Methylenetetrahydrofolate reductase deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

778625014 5,10-Methylenetetrahydrofolate reductase deficiency (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3035567016 Methylenetetrahydrofolate reductase deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
5,10-Methylenetetrahydrofolate reductase deficiency	Is a	Disorder of sulphur-bearing amino acid metabolism	true	Inferred relationship	Some
5,10-Methylenetetrahydrofolate reductase deficiency	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
5,10-Methylenetetrahydrofolate reductase deficiency	Is a	Enzymopathy	true	Inferred relationship	Some
5,10-Methylenetetrahydrofolate reductase deficiency	Is a	Inherited disorder of folate metabolism	true	Inferred relationship	Some
5,10-Methylenetetrahydrofolate reductase deficiency	Finding site	Body system structure	false	Inferred relationship	Some
5,10-Methylenetetrahydrofolate reductase deficiency	Occurrence	Congenital	true	Inferred relationship	Some	1

Inbound Relationships

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This concept is not in any reference sets