Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
3498601013 | Autosomal dominant spastic paraplegia type 29 (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3498602018 | Autosomal dominant spastic paraplegia type 29 | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3499934016 | A complex form of hereditary spastic paraplegia characterized by a spastic paraplegia presenting in adolescence, associated with the additional manifestations of sensorial hearing impairment due to auditory neuropathy and persistent vomiting due to a hiatal or paraesophageal hernia. The phenotype has been mapped to a locus on chromosome 1p31.1-p21.1. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3499935015 | A complex form of hereditary spastic paraplegia characterised by a spastic paraplegia presenting in adolescence, associated with the additional manifestations of sensorial hearing impairment due to auditory neuropathy and persistent vomiting due to a hiatal or paraoesophageal hernia. The phenotype has been mapped to a locus on chromosome 1p31.1-p21.1. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Autosomal dominant spastic paraplegia type 29 (disorder) | Is a | Autosomal dominant hereditary disorder | false | Inferred relationship | Some | ||
Autosomal dominant spastic paraplegia type 29 (disorder) | Is a | Complicated hereditary spastic paraplegia | false | Inferred relationship | Some | ||
Autosomal dominant spastic paraplegia type 29 (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | ||
Autosomal dominant spastic paraplegia type 29 (disorder) | Finding site | Lower limb structure | false | Inferred relationship | Some | ||
Autosomal dominant spastic paraplegia type 29 (disorder) | Associated morphology | Degeneration | false | Inferred relationship | Some | 3 | |
Autosomal dominant spastic paraplegia type 29 (disorder) | Finding site | Spinal cord structure | true | Inferred relationship | Some | 3 | |
Autosomal dominant spastic paraplegia type 29 (disorder) | Finding site | Cerebellar structure | false | Inferred relationship | Some | 3 | |
Autosomal dominant spastic paraplegia type 29 (disorder) | Associated morphology | Degeneration | false | Inferred relationship | Some | 1 | |
Autosomal dominant spastic paraplegia type 29 (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 1 | |
Autosomal dominant spastic paraplegia type 29 (disorder) | Finding site | Spinal cord structure | false | Inferred relationship | Some | 1 | |
Autosomal dominant spastic paraplegia type 29 (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 2 | |
Autosomal dominant spastic paraplegia type 29 (disorder) | Finding site | Lower limb structure | false | Inferred relationship | Some | 2 | |
Autosomal dominant spastic paraplegia type 29 (disorder) | Associated morphology | Degenerative abnormality | false | Inferred relationship | Some | 1 | |
Autosomal dominant spastic paraplegia type 29 (disorder) | Is a | Autosomal dominant hereditary spastic paraplegia | false | Inferred relationship | Some | ||
Autosomal dominant spastic paraplegia type 29 (disorder) | Clinical course | Progressive (qualifier value) | true | Inferred relationship | Some | 1 | |
Autosomal dominant spastic paraplegia type 29 (disorder) | Associated morphology | Degenerative abnormality | true | Inferred relationship | Some | 3 | |
Autosomal dominant spastic paraplegia type 29 (disorder) | Is a | Decreased hearing (finding) | true | Inferred relationship | Some | ||
Autosomal dominant spastic paraplegia type 29 (disorder) | Is a | Auditory system hereditary disorder | true | Inferred relationship | Some | ||
Autosomal dominant spastic paraplegia type 29 (disorder) | Is a | Sensorineural hearing loss | true | Inferred relationship | Some | ||
Autosomal dominant spastic paraplegia type 29 (disorder) | Finding site | Structure of auditory system (body structure) | true | Inferred relationship | Some | 5 | |
Autosomal dominant spastic paraplegia type 29 (disorder) | Interprets | Hearing | true | Inferred relationship | Some | 4 | |
Autosomal dominant spastic paraplegia type 29 (disorder) | Has interpretation | Decreased | true | Inferred relationship | Some | 4 | |
Autosomal dominant spastic paraplegia type 29 (disorder) | Interprets | Movement | true | Inferred relationship | Some | 8 | |
Autosomal dominant spastic paraplegia type 29 (disorder) | Finding site | Structure of right lower limb (body structure) | true | Inferred relationship | Some | 6 | |
Autosomal dominant spastic paraplegia type 29 (disorder) | Finding site | Structure of left lower limb (body structure) | true | Inferred relationship | Some | 7 | |
Autosomal dominant spastic paraplegia type 29 (disorder) | Interprets | Movement observable | true | Inferred relationship | Some | 2 | |
Autosomal dominant spastic paraplegia type 29 (disorder) | Has interpretation | Absent | true | Inferred relationship | Some | 2 | |
Autosomal dominant spastic paraplegia type 29 (disorder) | Is a | Autosomal dominant complex hereditary spastic paraplegia (disorder) | true | Inferred relationship | Some |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets