124611007: Deficiency of hydroxymethylglutaryl-CoA lyase (disorder)

Status: retired, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 01-Feb 2025. 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	false	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	false	Inferred relationship	Some
Deficiency of hydroxymethylglutaryl-CoA lyase	Is a	Disorder of branched-chain amino acid metabolism	false	Inferred relationship	Some
Deficiency of hydroxymethylglutaryl-CoA lyase	Occurrence	Congenital	false	Inferred relationship	Some	1
Deficiency of hydroxymethylglutaryl-CoA lyase	Is a	Inborn error of metabolism	false	Inferred relationship	Some

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

Reference Sets

Concept inactivation indicator reference set

SAME AS association reference set (foundation metadata concept)