Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2016. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3302367011 | Autosomal recessive cerebellar ataxia with oculomotor apraxia type 1 (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3302368018 | Autosomal recessive cerebellar ataxia with oculomotor apraxia type 1 | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3302370010 | Autosomal recessive ataxia with oculomotor apraxia type 1 | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3302371014 | AOA1 (ataxia oculomotor apraxia type 1) | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3302375017 | Ataxia oculomotor apraxia type 1 | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3302373012 | A rare autosomal recessive cerebellar ataxia characterized by progressive cerebellar ataxia associated with oculomotor apraxia, severe neuropathy, and hypoalbuminemia. Cerebellar ataxia is the first manifestation of AOA1 with progressive gait imbalance followed by dysarthria, and limb dysmetria. Later, peripheral axonal motor neuropathy dominates the clinical picture. Oculomotor apraxia is present in almost all individuals with AOA1. Chorea is present at onset in 80% of patients and upper limb dystonia occurs in about 50% of individuals. Additional features include square wave jerks, saccadic pursuit and gaze-evoked nystagmus, areflexia followed by severe peripheral neuropathy. Variable intellectual disability is observed. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3302374018 | A rare autosomal recessive cerebellar ataxia characterised by progressive cerebellar ataxia associated with oculomotor apraxia, severe neuropathy, and hypoalbuminaemia. Cerebellar ataxia is the first manifestation of AOA1 with progressive gait imbalance followed by dysarthria, and limb dysmetria. Later, peripheral axonal motor neuropathy dominates the clinical picture. Oculomotor apraxia is present in almost all individuals with AOA1. Chorea is present at onset in 80% of patients and upper limb dystonia occurs in about 50% of individuals. Additional features include square wave jerks, saccadic pursuit and gaze-evoked nystagmus, areflexia followed by severe peripheral neuropathy. Variable intellectual disability is observed. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3862151000052112 | autosomalt recessiv cerebellär ataxi med okulomotorisk apraxi, typ 1 | sv | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Sweden NRC maintained module (core metadata concept) |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Autosomal recessive cerebellar ataxia with oculomotor apraxia type 1 (disorder) | Is a | Cerebellar ataxia | true | Inferred relationship | Some | ||
| Autosomal recessive cerebellar ataxia with oculomotor apraxia type 1 (disorder) | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Autosomal recessive cerebellar ataxia with oculomotor apraxia type 1 (disorder) | Is a | Oculomotor apraxia | true | Inferred relationship | Some | ||
| Autosomal recessive cerebellar ataxia with oculomotor apraxia type 1 (disorder) | Is a | Hereditary disorder of nervous system | false | Inferred relationship | Some | ||
| Autosomal recessive cerebellar ataxia with oculomotor apraxia type 1 (disorder) | Is a | Hereditary disorder of the visual system (disorder) | true | Inferred relationship | Some | ||
| Autosomal recessive cerebellar ataxia with oculomotor apraxia type 1 (disorder) | Finding site | Structure of visual system (body structure) | true | Inferred relationship | Some | 2 | |
| Autosomal recessive cerebellar ataxia with oculomotor apraxia type 1 (disorder) | Finding site | Cerebellar structure | true | Inferred relationship | Some | 1 | |
| Autosomal recessive cerebellar ataxia with oculomotor apraxia type 1 (disorder) | Is a | Hereditary ataxia (disorder) | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR