713401006: Combined D-2-hydroxyglutaric aciduria and 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\Combined D-2-hydroxyglutaric aciduria and L-2-hydroxyglutaric aciduria (disorder)

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

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2016. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Combined D-2-hydroxyglutaric aciduria and L-2-hydroxyglutaric aciduria (disorder)	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Combined D-2-hydroxyglutaric aciduria and L-2-hydroxyglutaric aciduria (disorder)	Is a	2-hydroxyglutaric aciduria	true	Inferred relationship	Some
Combined D-2-hydroxyglutaric aciduria and L-2-hydroxyglutaric aciduria (disorder)	Finding site	Structure of central nervous system (body structure)	false	Inferred relationship	Some
Combined D-2-hydroxyglutaric aciduria and L-2-hydroxyglutaric aciduria (disorder)	Finding site	Structure of endocrine system (body structure)	false	Inferred relationship	Some
Combined D-2-hydroxyglutaric aciduria and L-2-hydroxyglutaric aciduria (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Combined D-2-hydroxyglutaric aciduria and L-2-hydroxyglutaric aciduria (disorder)	Finding site	Structure of central nervous system (body structure)	true	Inferred relationship	Some	1
Combined D-2-hydroxyglutaric aciduria and L-2-hydroxyglutaric aciduria (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	2
Combined D-2-hydroxyglutaric aciduria and L-2-hydroxyglutaric aciduria (disorder)	Finding site	Structure of endocrine system (body structure)	true	Inferred relationship	Some	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
3289131014	Combined D-2-hydroxyglutaric acidemia and L-2-hydroxyglutaric acidemia	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3289137013	Combined D-2-hydroxyglutaric aciduria and L-2-hydroxyglutaric aciduria (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3289144016	Combined D-2-hydroxyglutaric aciduria and L-2-hydroxyglutaric aciduria	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3289149014	D,L-2-hydroxyglutaric acidaemia	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3289174012	D,L-2-hydroxyglutaric acidemia	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3289177017	Combined D-2-hydroxyglutaric acidaemia and L-2-hydroxyglutaric acidaemia	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core