72538006: Hydroxymethylglutaryl-CoA lyase deficiency (disorder)

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

Descriptions:

Id Description Lang Type Status Case? Module

120488014 Hydroxymethylglutaryl-CoA lyase deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

120489018 HMG-CoA lyase deficiency en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

120490010 Hydroxymethylglutaric aciduria en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

200291018 Hydroxymethylglutaricaciduria en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

812826017 Hydroxymethylglutaryl-CoA lyase deficiency (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

1233514019 3-Hydroxy-3-methylglutaryl-CoA lyase deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Hydroxymethylglutaryl-CoA lyase deficiency	Is a	Non-amino organic acidemia AND/OR aciduria	false	Inferred relationship	Some
Hydroxymethylglutaryl-CoA lyase deficiency	Is a	Disorder of branched-chain amino acid metabolism	false	Inferred relationship	Some
Hydroxymethylglutaryl-CoA lyase deficiency	Is a	Enzymopathy	false	Inferred relationship	Some
Hydroxymethylglutaryl-CoA lyase deficiency	Is a	Autosomal recessive hereditary disorder	false	Inferred relationship	Some
Hydroxymethylglutaryl-CoA lyase deficiency	Occurrence	Congenital	false	Inferred relationship	Some
Hydroxymethylglutaryl-CoA lyase deficiency	Finding site	Body system structure	false	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Concept inactivation indicator reference set

POSSIBLY EQUIVALENT TO association reference set (foundation metadata concept)