Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3442820018 | Syndrome with characteristics of childhood-onset progressive ataxia and cerebellar atrophy. Exercise intolerance with elevated lactate levels and mild intellectual deficit may also be present. The syndrome is caused by ubiquinone deficiency. Mutations in the ADCK3/CABC1 gene on chromosome 1q42 have been detected in affected individuals. This gene is already known to play a role in ubiquinone biosynthesis in yeast. The syndrome is transmitted as an autosomal recessive trait. | en | Definition | Inactive | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5403456017 | This syndrome is characterized by childhood-onset progressive ataxia and cerebellar atrophy. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5403457014 | This syndrome is characterised by childhood-onset progressive ataxia and cerebellar atrophy. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3442815018 | Autosomal recessive ataxia due to ubiquinone deficiency (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3442816017 | Autosomal recessive ataxia due to ubiquinone deficiency | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3442817014 | ARCA2 - autosomal recessive cerebellar ataxia type 2 | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3442818016 | Autosomal recessive ataxia due to coenzyme Q10 deficiency | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3442819012 | Autosomal recessive spinocerebellar ataxia type 9 | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| This syndrome is characterized by childhood-onset progressive ataxia and cerebellar atrophy. | Is a | Cerebellar ataxia | true | Inferred relationship | Some | ||
| This syndrome is characterized by childhood-onset progressive ataxia and cerebellar atrophy. | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| This syndrome is characterized by childhood-onset progressive ataxia and cerebellar atrophy. | Is a | Mitochondrial cytopathy | true | Inferred relationship | Some | ||
| This syndrome is characterized by childhood-onset progressive ataxia and cerebellar atrophy. | Is a | Hereditary disorder of nervous system | false | Inferred relationship | Some | ||
| This syndrome is characterized by childhood-onset progressive ataxia and cerebellar atrophy. | Finding site | Cerebellar structure | true | Inferred relationship | Some | 1 | |
| This syndrome is characterized by childhood-onset progressive ataxia and cerebellar atrophy. | Is a | Hereditary ataxia (disorder) | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)
FHIR