4702003: Inherited disorder of folate metabolism (disorder)

SNOMED CT Concept\Clinical finding (finding)\Disease\...

\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited disorder of folate metabolism

\Disorder of foetus and/or newborn\Congenital disease\Inborn error of metabolism\Inherited disorder of folate metabolism

\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited disorder of folate metabolism
\Metabolic disease\Disorder of organic acid metabolism (disorder)\Inherited disorder of folate metabolism

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

8849015 Inherited disorder of folate metabolism en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

784433018 Inherited disorder of folate metabolism (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

8849015 Inherited disorder of folate metabolism en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

8849015 Inherited disorder of folate metabolism en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

784433018 Inherited disorder of folate metabolism (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

784433018 Inherited disorder of folate metabolism (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

4404171000241117 affection héréditaire du métabolisme des folates fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

4404171000241117 affection héréditaire du métabolisme des folates fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Inherited disorder of folate metabolism	Is a	Disorder of organic acid metabolism (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Inherited disorder of folate metabolism	Is a	Inborn error of metabolism	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Inherited disorder of folate metabolism	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Inherited disorder of folate metabolism	Finding site	Body system structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Methylene THF reductase deficiency AND homocystinuria	Is a	True	Inherited disorder of folate metabolism	Inferred relationship	Existential restriction modifier (core metadata concept)
5,10-Methylenetetrahydrofolate reductase deficiency	Is a	True	Inherited disorder of folate metabolism	Inferred relationship	Existential restriction modifier (core metadata concept)
Glutamate formiminotransferase deficiency (disorder)	Is a	True	Inherited disorder of folate metabolism	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital defect of folate absorption (disorder)	Is a	True	Inherited disorder of folate metabolism	Inferred relationship	Existential restriction modifier (core metadata concept)
Tetrahydrofolate methyltransferase deficiency (disorder)	Is a	True	Inherited disorder of folate metabolism	Inferred relationship	Existential restriction modifier (core metadata concept)
MTHFS-related developmental delay, microcephaly, short stature, epilepsy syndrome	Is a	True	Inherited disorder of folate metabolism	Inferred relationship	Existential restriction modifier (core metadata concept)

This concept is not in any reference sets