410059004: Hydroxymethylglutaric aciduria (disorder)

SNOMED CT Concept\Clinical finding (finding)\Disease\...

\Genetic disease\Hereditary disease\...

\Hereditary metabolic disease\Inborn error of metabolism\Disorder of fatty acid metabolism (disorder)\Fatty acid oxidation defect (disorder)\Hydroxymethylglutaric aciduria (disorder)

\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Fatty acid oxidation defect (disorder)\Hydroxymethylglutaric aciduria (disorder)

\Disorder of foetus and/or newborn\Congenital disease\Inborn error of metabolism\Disorder of fatty acid metabolism (disorder)\Fatty acid oxidation defect (disorder)\Hydroxymethylglutaric aciduria (disorder)

\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Disorder of fatty acid metabolism (disorder)\Fatty acid oxidation defect (disorder)\Hydroxymethylglutaric aciduria (disorder)
\Metabolic disease\Clinical manifestation of enzyme deficiency (disorder)\Hydroxymethylglutaric aciduria (disorder)
\Metabolic disease\Disorder of organic acid metabolism (disorder)\Disorder of fatty acid metabolism (disorder)\Fatty acid oxidation defect (disorder)\Hydroxymethylglutaric aciduria (disorder)
\Metabolic disease\Disorder of organic acid metabolism (disorder)\Non-amino organic acidemia AND/OR aciduria\Hydroxymethylglutaric aciduria (disorder)
\Metabolic disease\Disorder of lipoprotein AND/OR lipid metabolism\Disorder of fatty acid metabolism (disorder)\Fatty acid oxidation defect (disorder)\Hydroxymethylglutaric aciduria (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2004. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Hydroxymethylglutaric aciduria (disorder)	Is a	Clinical manifestation of enzyme deficiency (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Hydroxymethylglutaric aciduria (disorder)	Is a	Non-amino organic acidemia AND/OR aciduria	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Hydroxymethylglutaric aciduria (disorder)	Due to	déficit en hydroxymethylglutaryl-CoA lyase	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Hydroxymethylglutaric aciduria (disorder)	Is a	Fatty acid oxidation defect (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Hydroxymethylglutaric aciduria (disorder)	Due to	Enzymopathy	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Hydroxymethylglutaric aciduria (disorder)	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
2465510016	Hydroxymethylglutaric aciduria (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2471783019	Hydroxymethylglutaric aciduria	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5438143018	3-hydroxy-3-methylglutaryl-CoA lyase deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5438144012	3-hydroxy-3-methylglutaric aciduria	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5438145013	HMG-CoA lyase deficiency	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
2465510016	Hydroxymethylglutaric aciduria (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
2465510016	Hydroxymethylglutaric aciduria (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2471783019	Hydroxymethylglutaric aciduria	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
2471783019	Hydroxymethylglutaric aciduria	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5438143018	3-hydroxy-3-methylglutaryl-CoA lyase deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5438144012	3-hydroxy-3-methylglutaric aciduria	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5438145013	HMG-CoA lyase deficiency	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3421951001000112	3-Hydroxy-3-Methylglutarazidurie	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5273921000241119	acidurie hydroxyméthylglutarique	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5273921000241119	acidurie hydroxyméthylglutarique	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3421951001000112	3-Hydroxy-3-Methylglutarazidurie	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module