4702003: hereditaire aandoening van folaatmetabolisme (aandoening)

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 (disorder)\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\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

6046261000146116 erfelijke aandoening van folaatstofwisseling nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

7043561000146110 hereditaire aandoening van folaatmetabolisme nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

7043571000146116 hereditaire aandoening van folaatmetabolisme (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

7043581000146119 erfelijke aandoening van folaatmetabolisme nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Inherited disorder of folate metabolism	Is a	Disorder of organic acid metabolism	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 (disorder)	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
MTHFS-related developmental delay, microcephaly, short stature, epilepsy syndrome	Is a	True	Inherited disorder of folate metabolism	Inferred relationship	Some

This concept is not in any reference sets