237961001: L-2-hydroxyglutaric aciduria (disorder)

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

\Central nervous system finding\Disorder of the central nervous system (disorder)\Functional disease of the CNS with neuroendocrine disturbance\Disorder of neurometabolic regulation\2-hydroxyglutaric aciduria\L-2(OH) glutaric aciduria

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\2-hydroxyglutaric aciduria\L-2(OH) glutaric aciduria
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of endocrine system (disorder)\2-hydroxyglutaric aciduria\L-2(OH) glutaric aciduria
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\2-hydroxyglutaric aciduria\L-2(OH) glutaric aciduria
\Disease\Disorder of foetus and/or newborn\Congenital disease\2-hydroxyglutaric aciduria\L-2(OH) glutaric aciduria
\Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\2-hydroxyglutaric aciduria\L-2(OH) glutaric aciduria
\Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of endocrine system (disorder)\2-hydroxyglutaric aciduria\L-2(OH) glutaric aciduria
\Disease\Disorder of body system\Disorder of endocrine system (disorder)\Hereditary disorder of endocrine system (disorder)\2-hydroxyglutaric aciduria\L-2(OH) glutaric aciduria
\Disease\Disorder of body system\Disorder of endocrine system (disorder)\Functional disease of the CNS with neuroendocrine disturbance\Disorder of neurometabolic regulation\2-hydroxyglutaric aciduria\L-2(OH) glutaric aciduria
\Disease\Disorder of body system\Disease of nervous system (disorder)\Hereditary disorder of nervous system (disorder)\2-hydroxyglutaric aciduria\L-2(OH) glutaric aciduria
\Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Functional disease of the CNS with neuroendocrine disturbance\Disorder of neurometabolic regulation\2-hydroxyglutaric aciduria\L-2(OH) glutaric aciduria
\Disease\Metabolic disease\Disorder of neurometabolic regulation\2-hydroxyglutaric aciduria\L-2(OH) glutaric aciduria

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
L-2(OH) glutaric aciduria	Is a	Glutaric aciduria	false	Inferred relationship	Existential restriction modifier (core metadata concept)
L-2(OH) glutaric aciduria	Finding site	Body system structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)
L-2(OH) glutaric aciduria	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)
L-2(OH) glutaric aciduria	Is a	2-hydroxyglutaric aciduria	true	Inferred relationship	Existential restriction modifier (core metadata concept)
L-2(OH) glutaric aciduria	Finding site	Structure of central nervous system	false	Inferred relationship	Existential restriction modifier (core metadata concept)
L-2(OH) glutaric aciduria	Finding site	Structure of endocrine system (body structure)	false	Inferred relationship	Existential restriction modifier (core metadata concept)
L-2(OH) glutaric aciduria	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
L-2(OH) glutaric aciduria	Finding site	Structure of central nervous system	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
L-2(OH) glutaric aciduria	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
L-2(OH) glutaric aciduria	Finding site	Structure of endocrine system (body structure)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2

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
356648018	L-2(OH) glutaric aciduria	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
2913625016	L-2-hydroxy-glutaric aciduria	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3032066014	L-2-hydroxyglutaric aciduria	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3032067017	L-2-HGA	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3034147011	L-2-hydroxyglutaric aciduria (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
356648018	L-2(OH) glutaric aciduria	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
626771019	L-2(OH) glutaric aciduria (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
626771019	L-2(OH) glutaric aciduria (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
2913625016	L-2-hydroxy-glutaric aciduria	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
2913625016	L-2-hydroxy-glutaric aciduria	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
2913820012	L-2-hydroxy-glutaric aciduria (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3032066014	L-2-hydroxyglutaric aciduria	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3032067017	L-2-HGA	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3034147011	L-2-hydroxyglutaric aciduria (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3427501001000114	L-2-Hydroxy-Glutarazidurie	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
901341000172114	acidurie L-2-hydroxyglutarique	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
973061000172115	acidémie L-2-hydroxyglutarique	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
901341000172114	acidurie L-2-hydroxyglutarique	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
973061000172115	acidémie L-2-hydroxyglutarique	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3427501001000114	L-2-Hydroxy-Glutarazidurie	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module