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 |
| 3766832016 | SCAR6 - autosomal recessive spinocerebellar ataxia type 6 | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3766833014 | Infantile-onset autosomal recessive non progressive cerebellar ataxia | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3766834015 | Autosomal recessive spinocerebellar ataxia type 6 | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3766835019 | Infantile-onset autosomal recessive nonprogressive cerebellar ataxia | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3766836018 | Infantile-onset autosomal recessive non progressive cerebellar ataxia (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3766837010 | A rare genetic autosomal recessive cerebellar ataxia disease with characteristics of nonprogressive cerebellar ataxia, with onset in infancy, manifesting with delayed motor and speech development, gait ataxia, dysmetria, hypotonia, increased deep tendon reflexes and dysarthria. Additional variable manifestations include moderate nystagmus on lateral gaze, mild spasticity, intention tremor, short stature and pes planus. Brain imaging reveals cerebellar vermis atrophy. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Infantile-onset autosomal recessive non progressive cerebellar ataxia | est un(e) (attribut) | Hereditary ataxia (disorder) | true | Inferred relationship | Some | ||
| Infantile-onset autosomal recessive non progressive cerebellar ataxia | survenue (attribut) | Infancy (qualifier value) | true | Inferred relationship | Some | 1 | |
| Infantile-onset autosomal recessive non progressive cerebellar ataxia | est un(e) (attribut) | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Infantile-onset autosomal recessive non progressive cerebellar ataxia | localisation d'une constatation (attribut) | structure cérébelleuse | true | Inferred relationship | Some | 1 | |
| Infantile-onset autosomal recessive non progressive cerebellar ataxia | est un(e) (attribut) | Cerebellar ataxia | true | Inferred relationship | Some | ||
| Infantile-onset autosomal recessive non progressive cerebellar ataxia | est un(e) (attribut) | Hereditary disorder of nervous system | false | Inferred relationship | Some | ||
| Infantile-onset autosomal recessive non progressive cerebellar ataxia | évolution clinique (attribut) | Non-progressive | true | Inferred relationship | Some | 2 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR