Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Sep 2022. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 5099042016 | Progressive autosomal recessive cerebellar ataxia, sensorineural hearing loss syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5099043014 | Lichtenstein Knorr syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5099046018 | SCAR19 - spinocerebellar ataxia, autosomal recessive 19 | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5099048017 | Progressive autosomal recessive cerebellar ataxia, sensorineural hearing loss syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5099049013 | Progressive autosomal recessive ataxia, deafness syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 13988371000146113 | progressief autosomaal recessief syndroom van cerebellaire ataxie en perceptief gehoorverlies (aandoening) | nl | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 13988381000146110 | autosomaal recessieve spinocerebellaire ataxie type 19 | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 13988391000146112 | Lichtenstein-Knorr-syndroom | nl | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 13988401000146110 | progressief autosomaal recessief syndroom van cerebellaire ataxie en perceptief gehoorverlies | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 13988411000146112 | SCAR19 | nl | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 13988421000146119 | progressief autosomaal recessief syndroom van ataxie en doofheid | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 5099047010 | A rare genetic disease with characteristics of severe progressive sensorineural hearing loss and progressive cerebellar signs including gait ataxia, action tremor, dysmetria, dysdiadochokinesis, dysarthria and nystagmus. Absence of deep tendon reflexes has also been reported. Age of onset is between infancy and adolescence. Brain imaging may show variable cerebellar atrophy in some patients. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Progressive autosomal recessive cerebellar ataxia, sensorineural hearing loss syndrome (disorder) | Is a | Decreased hearing (finding) | true | Inferred relationship | Some | ||
| Progressive autosomal recessive cerebellar ataxia, sensorineural hearing loss syndrome (disorder) | Is a | Auditory system hereditary disorder | true | Inferred relationship | Some | ||
| Progressive autosomal recessive cerebellar ataxia, sensorineural hearing loss syndrome (disorder) | Is a | Sensorineural hearing loss | true | Inferred relationship | Some | ||
| Progressive autosomal recessive cerebellar ataxia, sensorineural hearing loss syndrome (disorder) | Is a | Hereditary ataxia (disorder) | true | Inferred relationship | Some | ||
| Progressive autosomal recessive cerebellar ataxia, sensorineural hearing loss syndrome (disorder) | Is a | Chronic brain syndrome | true | Inferred relationship | Some | ||
| Progressive autosomal recessive cerebellar ataxia, sensorineural hearing loss syndrome (disorder) | Is a | Cerebellar ataxia | true | Inferred relationship | Some | ||
| Progressive autosomal recessive cerebellar ataxia, sensorineural hearing loss syndrome (disorder) | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Progressive autosomal recessive cerebellar ataxia, sensorineural hearing loss syndrome (disorder) | Clinical course | Progressive (qualifier value) | true | Inferred relationship | Some | 2 | |
| Progressive autosomal recessive cerebellar ataxia, sensorineural hearing loss syndrome (disorder) | Finding site | Cerebellar structure | true | Inferred relationship | Some | 3 | |
| Progressive autosomal recessive cerebellar ataxia, sensorineural hearing loss syndrome (disorder) | Finding site | Structure of auditory system (body structure) | true | Inferred relationship | Some | 4 | |
| Progressive autosomal recessive cerebellar ataxia, sensorineural hearing loss syndrome (disorder) | Interprets | Hearing | true | Inferred relationship | Some | 1 | |
| Progressive autosomal recessive cerebellar ataxia, sensorineural hearing loss syndrome (disorder) | Has interpretation | Decreased | true | Inferred relationship | Some | 1 | |
| Progressive autosomal recessive cerebellar ataxia, sensorineural hearing loss syndrome (disorder) | Is a | Disorder of sensory function (disorder) | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR