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237960000: D-2-hydroxyglutaric aciduria (disorder)

SNOMED CT Concept\Clinical finding\...

\Central nervous system finding\Disorder of the central nervous system\Functional disease of the central nervous system with neuroendocrine disturbance\Disorder of neurometabolic regulation\2-hydroxyglutaric aciduria\D-2-hydroxyglutaric aciduria

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\2-hydroxyglutaric aciduria\D-2-hydroxyglutaric aciduria
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of endocrine system\2-hydroxyglutaric aciduria\D-2-hydroxyglutaric aciduria
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\2-hydroxyglutaric aciduria\D-2-hydroxyglutaric aciduria
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\2-hydroxyglutaric aciduria\D-2-hydroxyglutaric aciduria
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of endocrine system\2-hydroxyglutaric aciduria\D-2-hydroxyglutaric aciduria
\Disease\Disorder of body system\Disorder of endocrine system\Hereditary disorder of endocrine system\2-hydroxyglutaric aciduria\D-2-hydroxyglutaric aciduria
\Disease\Disorder of body system\Disorder of endocrine system\Functional disease of the central nervous system with neuroendocrine disturbance\Disorder of neurometabolic regulation\2-hydroxyglutaric aciduria\D-2-hydroxyglutaric aciduria
\Disease\Disorder of body system\Disorder of nervous system\Hereditary disorder of nervous system\2-hydroxyglutaric aciduria\D-2-hydroxyglutaric aciduria
\Disease\Disorder of body system\Disorder of nervous system\Disorder of the central nervous system\Functional disease of the central nervous system with neuroendocrine disturbance\Disorder of neurometabolic regulation\2-hydroxyglutaric aciduria\D-2-hydroxyglutaric aciduria
\Disease\Metabolic disease\Disorder of neurometabolic regulation\2-hydroxyglutaric aciduria\D-2-hydroxyglutaric aciduria
\Disease\Congenital disease\2-hydroxyglutaric aciduria\D-2-hydroxyglutaric aciduria

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2002. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

356647011 D-2(OH) glutaric aciduria en Synonym Active Entire term case sensitive SNOMED CT core module

2982748016 D-2-hydroxyglutaric aciduria (disorder) en Fully specified name Active Entire term case sensitive SNOMED CT core module

2982939017 D-2-hydroxyglutaric aciduria en Synonym Active Entire term case sensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
D-2-hydroxyglutaric aciduria	Is a	Glutaric aciduria	false	Inferred relationship	Existential restriction modifier
D-2-hydroxyglutaric aciduria	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier
D-2-hydroxyglutaric aciduria	Finding site	Body system structure	false	Inferred relationship	Existential restriction modifier
D-2-hydroxyglutaric aciduria	Is a	2-hydroxyglutaric aciduria	true	Inferred relationship	Existential restriction modifier
D-2-hydroxyglutaric aciduria	Finding site	Structure of central nervous system	false	Inferred relationship	Existential restriction modifier
D-2-hydroxyglutaric aciduria	Finding site	Structure of endocrine system	false	Inferred relationship	Existential restriction modifier
D-2-hydroxyglutaric aciduria	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
D-2-hydroxyglutaric aciduria	Finding site	Structure of central nervous system	true	Inferred relationship	Existential restriction modifier	1
D-2-hydroxyglutaric aciduria	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	2
D-2-hydroxyglutaric aciduria	Finding site	Structure of endocrine system	true	Inferred relationship	Existential restriction modifier	2

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Metaphyseal chondromatosis co-occurrent with D-2 hydroxyglutaric aciduria	Is a	True	D-2-hydroxyglutaric aciduria	Inferred relationship	Existential restriction modifier

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
356647011	D-2(OH) glutaric aciduria	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
2982748016	D-2-hydroxyglutaric aciduria (disorder)	en	Fully specified name	Active	Entire term case sensitive	SNOMED CT core module
2982939017	D-2-hydroxyglutaric aciduria	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module