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698870008: 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

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

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2014. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

2981747011 2-hydroxyglutaric aciduria en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

2981968018 2-hydroxyglutaric aciduria (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
2-hydroxyglutaric aciduria	Is a	Hereditary disorder of nervous system	true	Inferred relationship	Some
2-hydroxyglutaric aciduria	Is a	Autosomal recessive hereditary disorder	false	Inferred relationship	Some
2-hydroxyglutaric aciduria	Finding site	Structure of central nervous system (body structure)	false	Inferred relationship	Some
2-hydroxyglutaric aciduria	Is a	Disorder of neurometabolic regulation	true	Inferred relationship	Some
2-hydroxyglutaric aciduria	Is a	Hereditary disorder of endocrine system (disorder)	true	Inferred relationship	Some
2-hydroxyglutaric aciduria	Finding site	Structure of endocrine system (body structure)	false	Inferred relationship	Some
2-hydroxyglutaric aciduria	Is a	Autosomal hereditary disorder	true	Inferred relationship	Some
2-hydroxyglutaric aciduria	Occurrence	Congenital	true	Inferred relationship	Some	1
2-hydroxyglutaric aciduria	Finding site	Structure of central nervous system (body structure)	true	Inferred relationship	Some	1
2-hydroxyglutaric aciduria	Occurrence	Congenital	true	Inferred relationship	Some	2
2-hydroxyglutaric aciduria	Finding site	Structure of endocrine system (body structure)	true	Inferred relationship	Some	2
2-hydroxyglutaric aciduria	Is a	Congenital disease (disorder)	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
L-2(OH) glutaric aciduria	Is a	True	2-hydroxyglutaric aciduria	Inferred relationship	Some
D-2(OH) glutaric aciduria	Is a	True	2-hydroxyglutaric aciduria	Inferred relationship	Some
Combined D-2-hydroxyglutaric aciduria and L-2-hydroxyglutaric aciduria (disorder)	Is a	True	2-hydroxyglutaric aciduria	Inferred relationship	Some

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
2981747011	2-hydroxyglutaric aciduria	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2981968018	2-hydroxyglutaric aciduria (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core