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

\Fetal and/or neonatal disorder\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

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	Some
Inherited disorder of folate metabolism	Is a	Inborn error of metabolism	true	Inferred relationship	Some
Inherited disorder of folate metabolism	Occurrence	Congenital	true	Inferred relationship	Some	1
Inherited disorder of folate metabolism	Finding site	Body system structure	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Methylene THF reductase deficiency AND homocystinuria	Is a	True	Inherited disorder of folate metabolism	Inferred relationship	Some
5,10-Methylenetetrahydrofolate reductase deficiency	Is a	True	Inherited disorder of folate metabolism	Inferred relationship	Some
Glutamate formiminotransferase deficiency	Is a	True	Inherited disorder of folate metabolism	Inferred relationship	Some
Congenital defect of folate absorption	Is a	True	Inherited disorder of folate metabolism	Inferred relationship	Some
Tetrahydrofolate methyltransferase deficiency	Is a	True	Inherited disorder of folate metabolism	Inferred relationship	Some
A rare genetic neurometabolic disease characterised by microcephaly, short stature, epilepsy, cerebral hypomyelination, severe global developmental delay, and progressive spasticity. Macrocytic anaemia and hyperthermia have also been reported in association. Brain imaging reveals delayed myelination with minimal progression over time, mild cerebellar atrophy and/or thin corpus callosum.	Is a	True	Inherited disorder of folate metabolism	Inferred relationship	Some

This concept is not in any reference sets