Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2002. Module: SNOMED CT core module
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 204748019 | Deficiency of hydroxymethylglutaryl-CoA lyase | en | Synonym | Active | Only initial character case insensitive | SNOMED CT core module |
| 728328018 | Deficiency of hydroxymethylglutaryl-CoA lyase (disorder) | en | Fully specified name | Active | Only initial character case insensitive | SNOMED CT core module |
| 2475462015 | 3-Hydroxy-3-methylglutaryl-CoA lyase deficiency | en | Synonym | Active | Only initial character case insensitive | SNOMED CT core module |
| 2475463013 | HMG-CoA lyase deficiency | en | Synonym | Active | Entire term case sensitive | SNOMED CT core module |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Deficiency of hydroxymethylglutaryl-CoA lyase | Is a | Specific enzyme deficiency | true | Inferred relationship | Existential restriction modifier | ||
| Deficiency of hydroxymethylglutaryl-CoA lyase | Finding site | Body system structure | false | Inferred relationship | Existential restriction modifier | ||
| Deficiency of hydroxymethylglutaryl-CoA lyase | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Existential restriction modifier | ||
| Deficiency of hydroxymethylglutaryl-CoA lyase | Is a | Disorder of branched-chain amino acid metabolism | true | Inferred relationship | Existential restriction modifier | ||
| Deficiency of hydroxymethylglutaryl-CoA lyase | Occurrence | Congenital | true | Inferred relationship | Existential restriction modifier | 1 | |
| Deficiency of hydroxymethylglutaryl-CoA lyase | Is a | Inborn error of metabolism | true | Inferred relationship | Existential restriction modifier |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
| Hydroxymethylglutaric aciduria | Due to | True | Deficiency of hydroxymethylglutaryl-CoA lyase | Inferred relationship | Existential restriction modifier | 1 |
This concept is not in any reference sets
FHIR