Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2019. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
3766843012 | Adult-onset autosomal recessive cerebellar ataxia (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3766844018 | SCAR10 - autosomal recessive spinocerebellar ataxia type 10 | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3766845017 | Adult-onset autosomal recessive cerebellar ataxia | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3766846016 | Autosomal recessive spinocerebellar ataxia type 10 | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3766847013 | A rare genetic autosomal recessive cerebellar ataxia disease with characteristics of adulthood-onset of slowly progressive spinocerebellar ataxia, manifesting with gait and appendicular ataxia, dysarthria, ocular movement anomalies (for example horizontal, vertical, and/or downbeat nystagmus, hypermetric saccades), increased deep tendon reflexes and progressive cognitive decline. Additional variable features may include proximal leg muscle wasting and fasciculations, pes cavus, inspiratory stridor, epilepsy, retinal degeneration and cataracts. Brain imaging reveals marked cerebellar atrophy and electromyography shows evidence of lower motor neuron involvement. Caused by homozygous or compound heterozygous mutation in the ANO10 gene on chromosome 3p22. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Adult-onset autosomal recessive cerebellar ataxia (disorder) | survenue (attribut) | Adulthood (qualifier value) | true | Inferred relationship | Some | 1 | |
Adult-onset autosomal recessive cerebellar ataxia (disorder) | survenue (attribut) | Adulthood (qualifier value) | true | Inferred relationship | Some | 2 | |
Adult-onset autosomal recessive cerebellar ataxia (disorder) | localisation d'une constatation (attribut) | moelle spinale (structure corporelle) | true | Inferred relationship | Some | 2 | |
Adult-onset autosomal recessive cerebellar ataxia (disorder) | est un(e) (attribut) | Chronic brain syndrome | true | Inferred relationship | Some | ||
Adult-onset autosomal recessive cerebellar ataxia (disorder) | est un(e) (attribut) | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
Adult-onset autosomal recessive cerebellar ataxia (disorder) | morphologie associée (attribut) | dégénérescence | false | Inferred relationship | Some | 2 | |
Adult-onset autosomal recessive cerebellar ataxia (disorder) | morphologie associée (attribut) | dégénérescence | false | Inferred relationship | Some | 1 | |
Adult-onset autosomal recessive cerebellar ataxia (disorder) | est un(e) (attribut) | ataxie spinocérébelleuse dominante | true | Inferred relationship | Some | ||
Adult-onset autosomal recessive cerebellar ataxia (disorder) | localisation d'une constatation (attribut) | structure cérébelleuse | true | Inferred relationship | Some | 1 | |
Adult-onset autosomal recessive cerebellar ataxia (disorder) | évolution clinique (attribut) | progressif | true | Inferred relationship | Some | 3 | |
Adult-onset autosomal recessive cerebellar ataxia (disorder) | morphologie associée (attribut) | Degenerative abnormality | true | Inferred relationship | Some | 2 | |
Adult-onset autosomal recessive cerebellar ataxia (disorder) | morphologie associée (attribut) | Degenerative abnormality | true | Inferred relationship | Some | 1 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets