237960000: D-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\D-2(OH) glutaric aciduria

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

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(OH) glutaric aciduria	Is a	Glutaric aciduria	false	Inferred relationship	Existential restriction modifier (core metadata concept)
D-2(OH) glutaric aciduria	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)
D-2(OH) glutaric aciduria	Finding site	Body system structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)
D-2(OH) glutaric aciduria	Is a	2-hydroxyglutaric aciduria	true	Inferred relationship	Existential restriction modifier (core metadata concept)
D-2(OH) glutaric aciduria	Finding site	Structure of central nervous system	false	Inferred relationship	Existential restriction modifier (core metadata concept)
D-2(OH) glutaric aciduria	Finding site	Structure of endocrine system (body structure)	false	Inferred relationship	Existential restriction modifier (core metadata concept)
D-2(OH) glutaric aciduria	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
D-2(OH) glutaric aciduria	Finding site	Structure of central nervous system	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
D-2(OH) glutaric aciduria	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
D-2(OH) glutaric aciduria	Finding site	Structure of endocrine system (body structure)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria is an extremely rare genetic disorder characterised by the unique association of enchondromatosis with D-2 hydroxyglutaric aciduria. Clinical features include enchondromatosis (with short stature, severe metaphyseal dysplasia and mild vertebral involvement), elevated levels of urinary 2-hydroxyglutaric acid and mild developmental delay.	Is a	True	D-2(OH) glutaric aciduria	Inferred relationship	Existential restriction modifier (core metadata concept)

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
356647011	D-2(OH) glutaric aciduria	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
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
626770018	D-2(OH) glutaric aciduria (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
626770018	D-2(OH) glutaric aciduria (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
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
1042841000195115	aciduria D-2-idrossiglutarica	it	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3454151001000111	D-2-Hydroxy-Glutarazidurie	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
157611000172118	acidurie glutarique de type D-2(OH)	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
575261000172116	acidurie D-2(OH) glutarique	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
157611000172118	acidurie glutarique de type D-2(OH)	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
575261000172116	acidurie D-2(OH) glutarique	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
1042841000195115	aciduria D-2-idrossiglutarica	it	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3454151001000111	D-2-Hydroxy-Glutarazidurie	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module