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 |
| 5100107012 | Autosomal recessive cerebellar ataxia due to CWF19 like cell cycle control factor 1 deficiency (disorder) | en | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 5100109010 | Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 5100110017 | SCAR17 - spinocerebellar ataxia autosomal recessive type 17 | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5100112013 | Autosomal recessive cerebellar ataxia due to CWF19 like cell cycle control factor 1 deficiency | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 5400319011 | A rare autosomal recessive cerebellar ataxia characterized by early onset of slowly progressive cerebellar atrophy, clinically manifesting with extremity and truncal ataxia, global developmental delay, intellectual impairment, nystagmus, dysarthria, intention tremor, and pyramidal signs, among others. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5400320017 | A rare autosomal recessive cerebellar ataxia characterised by early onset of slowly progressive cerebellar atrophy, clinically manifesting with extremity and truncal ataxia, global developmental delay, intellectual impairment, nystagmus, dysarthria, intention tremor, and pyramidal signs, among others. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Autosomal recessive cerebellar ataxia due to CWF19 like cell cycle control factor 1 deficiency (disorder) | Is a | Intellectual disability | true | Inferred relationship | Some | ||
| Autosomal recessive cerebellar ataxia due to CWF19 like cell cycle control factor 1 deficiency (disorder) | Is a | Global developmental delay | true | Inferred relationship | Some | ||
| Autosomal recessive cerebellar ataxia due to CWF19 like cell cycle control factor 1 deficiency (disorder) | Is a | Truncal ataxia | true | Inferred relationship | Some | ||
| Autosomal recessive cerebellar ataxia due to CWF19 like cell cycle control factor 1 deficiency (disorder) | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| Autosomal recessive cerebellar ataxia due to CWF19 like cell cycle control factor 1 deficiency (disorder) | Is a | Hereditary cerebellar degeneration | false | Inferred relationship | Some | ||
| Autosomal recessive cerebellar ataxia due to CWF19 like cell cycle control factor 1 deficiency (disorder) | Is a | Hereditary ataxia (disorder) | true | Inferred relationship | Some | ||
| Autosomal recessive cerebellar ataxia due to CWF19 like cell cycle control factor 1 deficiency (disorder) | Is a | Chronic brain syndrome | true | Inferred relationship | Some | ||
| Autosomal recessive cerebellar ataxia due to CWF19 like cell cycle control factor 1 deficiency (disorder) | Is a | Cerebellar ataxia | true | Inferred relationship | Some | ||
| Autosomal recessive cerebellar ataxia due to CWF19 like cell cycle control factor 1 deficiency (disorder) | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Autosomal recessive cerebellar ataxia due to CWF19 like cell cycle control factor 1 deficiency (disorder) | Clinical course | Progressive (qualifier value) | true | Inferred relationship | Some | 4 | |
| Autosomal recessive cerebellar ataxia due to CWF19 like cell cycle control factor 1 deficiency (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 5 | |
| Autosomal recessive cerebellar ataxia due to CWF19 like cell cycle control factor 1 deficiency (disorder) | Interprets | Intellectual ability (observable entity) | true | Inferred relationship | Some | 2 | |
| Autosomal recessive cerebellar ataxia due to CWF19 like cell cycle control factor 1 deficiency (disorder) | Has interpretation | Impaired | true | Inferred relationship | Some | 2 | |
| Autosomal recessive cerebellar ataxia due to CWF19 like cell cycle control factor 1 deficiency (disorder) | Interprets | Adaptation behavior (observable entity) | true | Inferred relationship | Some | 3 | |
| Autosomal recessive cerebellar ataxia due to CWF19 like cell cycle control factor 1 deficiency (disorder) | Has interpretation | Impaired | true | Inferred relationship | Some | 3 | |
| Autosomal recessive cerebellar ataxia due to CWF19 like cell cycle control factor 1 deficiency (disorder) | Finding site | Cerebellar structure | true | Inferred relationship | Some | 1 | |
| Autosomal recessive cerebellar ataxia due to CWF19 like cell cycle control factor 1 deficiency (disorder) | Associated morphology | Atrophy | true | Inferred relationship | Some | 1 | |
| Autosomal recessive cerebellar ataxia due to CWF19 like cell cycle control factor 1 deficiency (disorder) | Is a | Hereditary cerebellar atrophy (disorder) | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)
FHIR