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 |
| 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) | est un(e) (attribut) | Hereditary degenerative disease of central nervous system | true | Inferred relationship | Some | ||
| Neurodegeneration due to 3-hydroxyisobutyryl coenzyme A hydrolase deficiency (disorder) | morphologie associée (attribut) | Degenerative abnormality | true | Inferred relationship | Some | 2 | |
| Neurodegeneration due to 3-hydroxyisobutyryl coenzyme A hydrolase deficiency (disorder) | est un(e) (attribut) | complication liée au système nerveux central | true | Inferred relationship | Some | ||
| 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) | est un(e) (attribut) | Degenerative brain disorder | true | Inferred relationship | Some | ||
| Neurodegeneration due to 3-hydroxyisobutyryl coenzyme A hydrolase deficiency (disorder) | est un(e) (attribut) | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Neurodegeneration due to 3-hydroxyisobutyryl coenzyme A hydrolase deficiency (disorder) | est un(e) (attribut) | Hereditary disorder of nervous system | false | Inferred relationship | Some | ||
| Neurodegeneration due to 3-hydroxyisobutyryl coenzyme A hydrolase deficiency (disorder) | est un(e) (attribut) | Disorder of valine metabolism (disorder) | true | Inferred relationship | Some | ||
| Neurodegeneration due to 3-hydroxyisobutyryl coenzyme A hydrolase deficiency (disorder) | morphologie associée (attribut) | dégénérescence | false | Inferred relationship | Some | 2 | |
| Neurodegeneration due to 3-hydroxyisobutyryl coenzyme A hydrolase deficiency (disorder) | localisation d'une constatation (attribut) | structure du tissu encéphalique | true | Inferred relationship | Some | 2 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR