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 |
| 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 |
| 761021000241118 | ataxie cérébelleuse autosomique récessive par déficit en ubiquinone (trouble) | fr | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 885771000172113 | ataxie cérébelleuse autosomique récessive par déficit en ubiquinone | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 888701000172111 | ARCA2 - autosomal recessive cerebellar ataxia type 2 | fr | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 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 | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Autosomal recessive ataxia due to ubiquinone deficiency (disorder) | est un(e) (attribut) | Cerebellar ataxia | true | Inferred relationship | Some | ||
| Autosomal recessive ataxia due to ubiquinone deficiency (disorder) | est un(e) (attribut) | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Autosomal recessive ataxia due to ubiquinone deficiency (disorder) | est un(e) (attribut) | Mitochondrial cytopathy | true | Inferred relationship | Some | ||
| Autosomal recessive ataxia due to ubiquinone deficiency (disorder) | est un(e) (attribut) | Hereditary disorder of nervous system | false | Inferred relationship | Some | ||
| Autosomal recessive ataxia due to ubiquinone deficiency (disorder) | localisation d'une constatation (attribut) | structure cérébelleuse | true | Inferred relationship | Some | 1 | |
| Autosomal recessive ataxia due to ubiquinone deficiency (disorder) | est un(e) (attribut) | Hereditary ataxia (disorder) | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR