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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 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
\Disease\Congenital disease (disorder)\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
3649571000052118 2-hydroxiglutaraciduri sv Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

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
3649571000052118	2-hydroxiglutaraciduri	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)