Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3332443017 | Neurodegeneration due to 3-hydroxyisobutyryl coenzyme A hydrolase deficiency (disorder) | en | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3332444011 | Neurodegeneration due to 3-hydroxyisobutyryl coenzyme A hydrolase deficiency | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3332445012 | Methacrylic aciduria | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3332446013 | Valine metabolic defect | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5315808010 | HIBCH-gene related deficiency of 3-hydroxyisobutyryl coenzyme A hydrolase | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5315809019 | Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3332447016 | 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. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Neurodegeneration due to 3-hydroxyisobutyryl coenzyme A hydrolase deficiency (disorder) | Due to | Deficiency of 3-hydroxyisobutyryl CoA hydrolase | true | Inferred relationship | Some | 1 | |
| Neurodegeneration due to 3-hydroxyisobutyryl coenzyme A hydrolase deficiency (disorder) | Is a | Degenerative brain disorder | true | Inferred relationship | Some | ||
| Neurodegeneration due to 3-hydroxyisobutyryl coenzyme A hydrolase deficiency (disorder) | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Neurodegeneration due to 3-hydroxyisobutyryl coenzyme A hydrolase deficiency (disorder) | Is a | Hereditary disorder of nervous system | false | Inferred relationship | Some | ||
| Neurodegeneration due to 3-hydroxyisobutyryl coenzyme A hydrolase deficiency (disorder) | Is a | Disorder of valine metabolism (disorder) | true | Inferred relationship | Some | ||
| Neurodegeneration due to 3-hydroxyisobutyryl coenzyme A hydrolase deficiency (disorder) | Associated morphology | Degeneration | false | Inferred relationship | Some | 2 | |
| Neurodegeneration due to 3-hydroxyisobutyryl coenzyme A hydrolase deficiency (disorder) | Finding site | Brain tissue structure | false | Inferred relationship | Some | 2 | |
| Neurodegeneration due to 3-hydroxyisobutyryl coenzyme A hydrolase deficiency (disorder) | Is a | Hereditary degenerative disease of central nervous system | true | Inferred relationship | Some | ||
| Neurodegeneration due to 3-hydroxyisobutyryl coenzyme A hydrolase deficiency (disorder) | Associated morphology | Degenerative abnormality | true | Inferred relationship | Some | 2 | |
| Neurodegeneration due to 3-hydroxyisobutyryl coenzyme A hydrolase deficiency (disorder) | Is a | Central nervous system complication | true | Inferred relationship | Some | ||
| Neurodegeneration due to 3-hydroxyisobutyryl coenzyme A hydrolase deficiency (disorder) | Finding site | Brain structure | true | Inferred relationship | Some | 2 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)
FHIR