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

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

4776061000241119 déficit en hydroxymethylglutaryl-CoA lyase fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

4776061000241119 déficit en hydroxymethylglutaryl-CoA lyase fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
déficit en hydroxymethylglutaryl-CoA lyase	Is a	Specific enzyme deficiency	false	Inferred relationship	Existential restriction modifier (core metadata concept)
déficit en hydroxymethylglutaryl-CoA lyase	Finding site	Body system structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)
déficit en hydroxymethylglutaryl-CoA lyase	Is a	Autosomal recessive hereditary disorder	false	Inferred relationship	Existential restriction modifier (core metadata concept)
déficit en hydroxymethylglutaryl-CoA lyase	Is a	Disorder of branched-chain amino acid metabolism	false	Inferred relationship	Existential restriction modifier (core metadata concept)
déficit en hydroxymethylglutaryl-CoA lyase	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
déficit en hydroxymethylglutaryl-CoA lyase	Is a	Inborn error of metabolism	false	Inferred relationship	Existential restriction modifier (core metadata concept)

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Hydroxymethylglutaric aciduria (disorder)	Due to	False	déficit en hydroxymethylglutaryl-CoA lyase	Inferred relationship	Existential restriction modifier (core metadata concept)	1

Reference Sets

Concept inactivation indicator attribute value reference set (foundation metadata concept)

SAME AS association reference set (foundation metadata concept)