124611007: Deficiency of hydroxymethylglutaryl-CoA lyase (disorder)

SNOMED CT Concept\constatation clinique\Disease\...

\Genetic disease\maladie héréditaire\...

\Inborn error of metabolism\Deficiency of hydroxymethylglutaryl-CoA lyase

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

\trouble métabolique\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
\trouble métabolique\Inborn error of metabolism\Deficiency of hydroxymethylglutaryl-CoA lyase
\trouble métabolique\Enzymopathy\Specific enzyme deficiency\Deficiency of hydroxymethylglutaryl-CoA lyase

\Congenital disease\Inborn error of metabolism\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

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

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

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Deficiency of hydroxymethylglutaryl-CoA lyase	est un(e) (attribut)	Specific enzyme deficiency	true	Inferred relationship	Some
Deficiency of hydroxymethylglutaryl-CoA lyase	est un(e) (attribut)	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Deficiency of hydroxymethylglutaryl-CoA lyase	est un(e) (attribut)	Disorder of branched-chain amino acid metabolism	true	Inferred relationship	Some
Deficiency of hydroxymethylglutaryl-CoA lyase	survenue (attribut)	congénital	true	Inferred relationship	Some	1
Deficiency of hydroxymethylglutaryl-CoA lyase	est un(e) (attribut)	Inborn error of metabolism	true	Inferred relationship	Some
Deficiency of hydroxymethylglutaryl-CoA lyase	localisation d'une constatation (attribut)	structure d'un système corporel	false	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

Reference Sets

Client's clinical problems, conditions, diagnoses, symptoms, findings, complaints reference set (foundation metadata concept)

Most commonly used clinical problems, conditions, diagnoses, symptoms, findings and complaints, as interpreted by the provider reference set (foundation metadata concept)