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\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)\Disorder of amino acid metabolism (disorder)\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 (disorder)\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:

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	Existential restriction modifier (core metadata concept)
5,10-Methylenetetrahydrofolate reductase deficiency	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Existential restriction modifier (core metadata concept)
5,10-Methylenetetrahydrofolate reductase deficiency	Is a	Enzymopathy	true	Inferred relationship	Existential restriction modifier (core metadata concept)
5,10-Methylenetetrahydrofolate reductase deficiency	Is a	Inherited disorder of folate metabolism	true	Inferred relationship	Existential restriction modifier (core metadata concept)
5,10-Methylenetetrahydrofolate reductase deficiency	Finding site	Body system structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)
5,10-Methylenetetrahydrofolate reductase deficiency	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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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
69726016	5,10-Methylenetetrahydrofolate reductase deficiency	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
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
778625014	5,10-Methylenetetrahydrofolate reductase deficiency (disorder)	en	Fully specified name	Active	Entire term case sensitive (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	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
3439851001000117	Homocystinurie durch Methylen-Tetrahydrofolat-Reduktase-Mangel	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3439851001000117	Homocystinurie durch Methylen-Tetrahydrofolat-Reduktase-Mangel	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module