237960000: acidurie D-2(OH) glutarique (trouble)

SNOMED CT Concept\constatation clinique\...

\constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Functional disease of the CNS with neuroendocrine disturbance\Disorder of neurometabolic regulation\2-hydroxyglutaric aciduria\D-2-hydroxyglutaric aciduria (disorder)

\Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of nervous system\2-hydroxyglutaric aciduria\D-2-hydroxyglutaric aciduria (disorder)
\Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of endocrine system (disorder)\2-hydroxyglutaric aciduria\D-2-hydroxyglutaric aciduria (disorder)
\Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\2-hydroxyglutaric aciduria\D-2-hydroxyglutaric aciduria (disorder)
\Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of nervous system\2-hydroxyglutaric aciduria\D-2-hydroxyglutaric aciduria (disorder)
\Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of endocrine system (disorder)\2-hydroxyglutaric aciduria\D-2-hydroxyglutaric aciduria (disorder)
\Disease\affection d'un système corporel\pathologie endocrinologique\Hereditary disorder of endocrine system (disorder)\2-hydroxyglutaric aciduria\D-2-hydroxyglutaric aciduria (disorder)
\Disease\affection d'un système corporel\pathologie endocrinologique\Functional disease of the CNS with neuroendocrine disturbance\Disorder of neurometabolic regulation\2-hydroxyglutaric aciduria\D-2-hydroxyglutaric aciduria (disorder)
\Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\2-hydroxyglutaric aciduria\D-2-hydroxyglutaric aciduria (disorder)
\Disease\affection d'un système corporel\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\D-2-hydroxyglutaric aciduria (disorder)
\Disease\trouble métabolique\Disorder of neurometabolic regulation\2-hydroxyglutaric aciduria\D-2-hydroxyglutaric aciduria (disorder)
\Disease\Congenital disease\2-hydroxyglutaric aciduria\D-2-hydroxyglutaric aciduria (disorder)

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
D-2-hydroxyglutaric aciduria (disorder)	survenue (attribut)	congénital	false	Inferred relationship	Some
D-2-hydroxyglutaric aciduria (disorder)	localisation d'une constatation (attribut)	structure d'un système corporel	false	Inferred relationship	Some
D-2-hydroxyglutaric aciduria (disorder)	est un(e) (attribut)	Glutaric aciduria	false	Inferred relationship	Some
D-2-hydroxyglutaric aciduria (disorder)	est un(e) (attribut)	2-hydroxyglutaric aciduria	true	Inferred relationship	Some
D-2-hydroxyglutaric aciduria (disorder)	localisation d'une constatation (attribut)	Structure of central nervous system (body structure)	false	Inferred relationship	Some
D-2-hydroxyglutaric aciduria (disorder)	localisation d'une constatation (attribut)	Structure of endocrine system (body structure)	false	Inferred relationship	Some
D-2-hydroxyglutaric aciduria (disorder)	survenue (attribut)	congénital	true	Inferred relationship	Some	1
D-2-hydroxyglutaric aciduria (disorder)	localisation d'une constatation (attribut)	Structure of central nervous system (body structure)	true	Inferred relationship	Some	1
D-2-hydroxyglutaric aciduria (disorder)	survenue (attribut)	congénital	true	Inferred relationship	Some	2
D-2-hydroxyglutaric aciduria (disorder)	localisation d'une constatation (attribut)	Structure of endocrine system (body structure)	true	Inferred relationship	Some	2

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Metaphyseal chondromatosis co-occurrent with D-2 hydroxyglutaric aciduria (disorder)	est un(e) (attribut)	True	D-2-hydroxyglutaric aciduria (disorder)	Inferred relationship	Some

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
157611000172118	acidurie glutarique de type D-2(OH)	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
2982748016	D-2-hydroxyglutaric aciduria (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
2982939017	D-2-hydroxyglutaric aciduria	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
356647011	D-2(OH) glutaric aciduria	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
549471000241117	acidurie D-2(OH) glutarique (trouble)	fr	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
575261000172116	acidurie D-2(OH) glutarique	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)