Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Mar 2022. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 4963735012 | Severe oculo-renal-cerebellar syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 4963736013 | Hunter Jurenka Thompson syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 4963737016 | Oculorenocerebellar syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 4963738014 | Severe oculo-renal-cerebellar syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 4963739018 | ORC (oculo-renal-cerebellar) syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5399810014 | A rare multiple congenital anomalies/dysmorphic syndrome characterized by profound intellectual disability, choreoathetosis, progressive spastic diplegia, progressive tapetoretinal degeneration with loss of retinal vessels, and glomerulopathy resulting in death late in the first or early in the second decade of life. Absence of the cerebellar granular layer has been reported. There have been no further descriptions in the literature since 1982. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5399811013 | A rare multiple congenital anomalies/dysmorphic syndrome characterised by profound intellectual disability, choreoathetosis, progressive spastic diplegia, progressive tapetoretinal degeneration with loss of retinal vessels, and glomerulopathy resulting in death late in the first or early in the second decade of life. Absence of the cerebellar granular layer has been reported. There have been no further descriptions in the literature since 1982. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Severe oculo-renal-cerebellar syndrome (disorder) | Is a | Intellectual disability | true | Inferred relationship | Some | ||
| Severe oculo-renal-cerebellar syndrome (disorder) | Is a | Chronic disease of genitourinary system | true | Inferred relationship | Some | ||
| Severe oculo-renal-cerebellar syndrome (disorder) | Is a | Chronic mental disorder | false | Inferred relationship | Some | ||
| Severe oculo-renal-cerebellar syndrome (disorder) | Is a | Glomerular disease | true | Inferred relationship | Some | ||
| Severe oculo-renal-cerebellar syndrome (disorder) | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| Severe oculo-renal-cerebellar syndrome (disorder) | Is a | Hereditary disorder of the visual system (disorder) | true | Inferred relationship | Some | ||
| Severe oculo-renal-cerebellar syndrome (disorder) | Is a | Hereditary nephropathy (disorder) | true | Inferred relationship | Some | ||
| Severe oculo-renal-cerebellar syndrome (disorder) | Is a | Choreoathetosis | true | Inferred relationship | Some | ||
| Severe oculo-renal-cerebellar syndrome (disorder) | Is a | Chronic brain syndrome | true | Inferred relationship | Some | ||
| Severe oculo-renal-cerebellar syndrome (disorder) | Is a | Multiple system malformation syndrome | true | Inferred relationship | Some | ||
| Severe oculo-renal-cerebellar syndrome (disorder) | Is a | Degeneration of retina | true | Inferred relationship | Some | ||
| Severe oculo-renal-cerebellar syndrome (disorder) | Clinical course | Progressive (qualifier value) | true | Inferred relationship | Some | 4 | |
| Severe oculo-renal-cerebellar syndrome (disorder) | Interprets | Movement | false | Inferred relationship | Some | 8 | |
| Severe oculo-renal-cerebellar syndrome (disorder) | Finding site | Basal ganglion structure (body structure) | true | Inferred relationship | Some | 5 | |
| Severe oculo-renal-cerebellar syndrome (disorder) | Finding site | Glomerulus structure | true | Inferred relationship | Some | 7 | |
| Severe oculo-renal-cerebellar syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 3 | |
| Severe oculo-renal-cerebellar syndrome (disorder) | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 3 | |
| Severe oculo-renal-cerebellar syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 3 | |
| Severe oculo-renal-cerebellar syndrome (disorder) | Finding site | Retinal structure | true | Inferred relationship | Some | 2 | |
| Severe oculo-renal-cerebellar syndrome (disorder) | Associated morphology | Degenerative abnormality | true | Inferred relationship | Some | 2 | |
| Severe oculo-renal-cerebellar syndrome (disorder) | Is a | Cerebellar disorder | true | Inferred relationship | Some | ||
| Severe oculo-renal-cerebellar syndrome (disorder) | Is a | Spastic diplegia | true | Inferred relationship | Some | ||
| Severe oculo-renal-cerebellar syndrome (disorder) | Is a | Hereditary disorder of nervous system | true | Inferred relationship | Some | ||
| Severe oculo-renal-cerebellar syndrome (disorder) | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Severe oculo-renal-cerebellar syndrome (disorder) | Finding site | Cerebellar structure | true | Inferred relationship | Some | 1 | |
| Severe oculo-renal-cerebellar syndrome (disorder) | Finding site | Limb structure | false | Inferred relationship | Some | 6 | |
| Severe oculo-renal-cerebellar syndrome (disorder) | Interprets | Adaptation behavior (observable entity) | false | Inferred relationship | Some | 9 | |
| Severe oculo-renal-cerebellar syndrome (disorder) | Has interpretation | Impaired | true | Inferred relationship | Some | 9 | |
| Severe oculo-renal-cerebellar syndrome (disorder) | Interprets | Intellectual ability (observable entity) | false | Inferred relationship | Some | 10 | |
| Severe oculo-renal-cerebellar syndrome (disorder) | Has interpretation | Impaired | false | Inferred relationship | Some | 10 | |
| Severe oculo-renal-cerebellar syndrome (disorder) | Is a | Chronic disease of musculoskeletal system | true | Inferred relationship | Some | ||
| Severe oculo-renal-cerebellar syndrome (disorder) | Is a | Hereditary disorder of musculoskeletal system | true | Inferred relationship | Some | ||
| Severe oculo-renal-cerebellar syndrome (disorder) | Finding site | Skeletal muscle structure of limb (body structure) | true | Inferred relationship | Some | 6 | |
| Severe oculo-renal-cerebellar syndrome (disorder) | Has interpretation | Impaired | true | Inferred relationship | Some | 11 | |
| Severe oculo-renal-cerebellar syndrome (disorder) | Interprets | Muscle tone | true | Inferred relationship | Some | 12 | |
| Severe oculo-renal-cerebellar syndrome (disorder) | Interprets | Intellectual ability (observable entity) | true | Inferred relationship | Some | 9 | |
| Severe oculo-renal-cerebellar syndrome (disorder) | Interprets | Movement observable | true | Inferred relationship | Some | 10 | |
| Severe oculo-renal-cerebellar syndrome (disorder) | Has interpretation | Absent | true | Inferred relationship | Some | 10 | |
| Severe oculo-renal-cerebellar syndrome (disorder) | Interprets | Adaptation behavior (observable entity) | true | Inferred relationship | Some | 11 | |
| Severe oculo-renal-cerebellar syndrome (disorder) | Has interpretation | Increased | true | Inferred relationship | Some | 12 | |
| Severe oculo-renal-cerebellar syndrome (disorder) | Has interpretation | Abnormal | true | Inferred relationship | Some | 8 | |
| Severe oculo-renal-cerebellar syndrome (disorder) | Interprets | Movement | true | Inferred relationship | Some | 13 | |
| Severe oculo-renal-cerebellar syndrome (disorder) | Interprets | Movement observable | true | Inferred relationship | Some | 8 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)
FHIR