124611007: Deficiency of hydroxymethylglutaryl-CoA lyase (disorder)

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

\Genetic disease\Hereditary disease\...

\Hereditary metabolic disease\Inborn error of metabolism\Deficiency of hydroxymethylglutaryl-CoA lyase

\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Deficiency of hydroxymethylglutaryl-CoA lyase

\Disorder of foetus and/or newborn\Congenital disease (disorder)\Inborn error of metabolism\Deficiency of hydroxymethylglutaryl-CoA lyase

\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Deficiency of hydroxymethylglutaryl-CoA lyase
\Metabolic disease\Disorder of organic acid metabolism\Disorder of amino acid metabolism\Disorder of amino acid and organic acid metabolism\Disorder of branched-chain amino acid metabolism\Deficiency of hydroxymethylglutaryl-CoA lyase
\Metabolic disease\Enzymopathy\Specific enzyme deficiency\Deficiency of hydroxymethylglutaryl-CoA lyase

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

Descriptions:

Id Description Lang Type Status Case? Module

204748019 Deficiency of hydroxymethylglutaryl-CoA lyase en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

728328018 Deficiency of hydroxymethylglutaryl-CoA lyase (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

2475462015 3-Hydroxy-3-methylglutaryl-CoA lyase deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

2475463013 HMG-CoA lyase deficiency en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Deficiency of hydroxymethylglutaryl-CoA lyase	Is a	Specific enzyme deficiency	true	Inferred relationship	Some
Deficiency of hydroxymethylglutaryl-CoA lyase	Finding site	Body system structure	false	Inferred relationship	Some
Deficiency of hydroxymethylglutaryl-CoA lyase	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Deficiency of hydroxymethylglutaryl-CoA lyase	Is a	Disorder of branched-chain amino acid metabolism	true	Inferred relationship	Some
Deficiency of hydroxymethylglutaryl-CoA lyase	Occurrence	Congenital	true	Inferred relationship	Some	1
Deficiency of hydroxymethylglutaryl-CoA lyase	Is a	Inborn error of metabolism	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Hydroxymethylglutaric aciduria (disorder)	Due to	True	Deficiency of hydroxymethylglutaryl-CoA lyase	Inferred relationship	Some	1

This concept is not in any reference sets