Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Nov 2021. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
4667503012 | Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction (disorder) | en | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
4667504018 | Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
4667505017 | A rare genetic neurological disorder with characteristics of progressive spastic paraparesis and delayed gross motor development with an onset in infancy or early childhood. Patients also show variable degrees of intellectual disability, speech delay and dysarthria. Other reported features include microcephaly, seizures, bifid uvula with or without cleft palate and ocular anomalies. Brain imaging shows white matter abnormalities in the periventricular and other regions. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
5323781000052110 | autosomalt recessiv komplex spastisk paraplegi orsakad av dysfunktion hos Kennedys väg | sv | Synonym (core metadata concept) | Active | Only initial character 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 complex spastic paraplegia due to Kennedy pathway dysfunction (disorder) | Is a | Intellectual disability | true | Inferred relationship | Some | ||
Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction (disorder) | Is a | Complicated hereditary spastic paraplegia | true | Inferred relationship | Some | ||
Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction (disorder) | Is a | Disorder of lipid metabolism | true | Inferred relationship | Some | ||
Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction (disorder) | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction (disorder) | Is a | Autosomal recessive hereditary disorder | false | Inferred relationship | Some | ||
Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 2 | |
Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction (disorder) | Finding site | Spinal cord structure | false | Inferred relationship | Some | 2 | |
Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction (disorder) | Associated morphology | Degenerative abnormality (morphologic abnormality) | false | Inferred relationship | Some | 2 | |
Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 3 | |
Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction (disorder) | Finding site | Lower limb structure | false | Inferred relationship | Some | 3 | |
Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction (disorder) | Is a | Autosomal recessive hereditary spastic paraplegia | true | Inferred relationship | Some | ||
Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction (disorder) | Is a | Chronic metabolic disorder | true | Inferred relationship | Some | ||
Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction (disorder) | Is a | Chronic mental disorder | false | Inferred relationship | Some | ||
Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction (disorder) | Clinical course | Progressive (qualifier value) | true | Inferred relationship | Some | 4 | |
Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction (disorder) | Finding site | Lower limb structure | false | Inferred relationship | Some | 2 | |
Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction (disorder) | Finding site | Spinal cord structure | true | Inferred relationship | Some | 3 | |
Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction (disorder) | Associated morphology | Degenerative abnormality (morphologic abnormality) | true | Inferred relationship | Some | 3 | |
Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction (disorder) | Interprets | Intellectual ability (observable entity) | true | Inferred relationship | Some | 5 | |
Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction (disorder) | Has interpretation | Impaired | true | Inferred relationship | Some | 5 | |
Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction (disorder) | Interprets | Adaptation behavior (observable entity) | true | Inferred relationship | Some | 6 | |
Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction (disorder) | Has interpretation | Impaired | true | Inferred relationship | Some | 6 | |
Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction (disorder) | Interprets | Movement | true | Inferred relationship | Some | 7 | |
Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction (disorder) | Finding site | Structure of right lower limb (body structure) | true | Inferred relationship | Some | 2 | |
Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction (disorder) | Finding site | Structure of left lower limb (body structure) | true | Inferred relationship | Some | 8 | |
Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction (disorder) | Has interpretation | Absent | true | Inferred relationship | Some | 9 | |
Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction (disorder) | Interprets | Movement observable | true | Inferred relationship | Some | 9 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets