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62578003: congenitaal defect van folaatabsorptie (aandoening)

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

\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited disorder of folate metabolism\Congenital defect of folate absorption (disorder)

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

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

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
Congenital defect of folate absorption (disorder)	Is a	Inherited disorder of folate metabolism	true	Inferred relationship	Some
Congenital defect of folate absorption (disorder)	Is a	Disorder of sulphur-bearing amino acid metabolism	true	Inferred relationship	Some
Congenital defect of folate absorption (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Congenital defect of folate absorption (disorder)	Finding site	Body system structure	false	Inferred relationship	Some

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
104006016	Congenital defect of folate absorption	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
104007013	Congenital malabsorption of folic acid	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
104008015	Folic acid transport defect	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
801765019	Congenital defect of folate absorption (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1232350015	Hereditary folate malabsorption	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1232351016	Folate transport defect	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5922151000146118	congenitaal defect van folaatabsorptie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
5922161000146115	congenitaal defect van folaatabsorptie (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
5922171000146114	aangeboren defect van folaatopname	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6103021000146111	congenitaal defect van folaattransport	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)