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 |
| 204299013 | Deficiency of 3-hydroxyisobutyryl CoA hydrolase | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 2971137013 | Deficiency of 3-hydroxyisobutyryl coenzyme A hydrolase (disorder) | en | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 2971325016 | Deficiency of 3-hydroxyisobutyryl coenzyme A hydrolase | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3332448014 | Beta-hydroxyisobutyryl-coenzyme A deacylase deficiency | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3803201000005117 | 3-hydroxyisobutyryl-CoA-hydrolasemangel | da | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | Danish module (core metadata concept) |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Deficiency of 3-hydroxyisobutyryl CoA hydrolase | Is a | Specific enzyme deficiency (disorder) | true | Inferred relationship | Some | ||
| Deficiency of 3-hydroxyisobutyryl CoA hydrolase | Finding site | Body system structure | false | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
| Disease with characteristics of delayed motor development, hypotonia and progressive neurodegeneration. To date, it has been described in four boys. The syndrome is caused by mutations affecting the two alleles of the HIBCH gene, encoding 3-hydroxyisobutyryl-CoA hydrolase which is caused by homozygous or compound heterozygous mutation in the HIBCH gene on chromosome 2q32. | Due to | True | Deficiency of 3-hydroxyisobutyryl CoA hydrolase | Inferred relationship | Some | 1 |
This concept is not in any reference sets
FHIR