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 |
| 3450937012 | Autosomal recessive spastic paraplegia type 23 (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3450938019 | Autosomal recessive spastic paraplegia type 23 | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3450939010 | Lison syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3450940012 | Spastic paraparesis, vitiligo, premature graying, characteristic facies syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3450941011 | Spastic paraparesis, vitiligo, premature greying, characteristic facies syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 4611839016 | A rare complex type of hereditary spastic paraplegia that presents in childhood with progressive spastic paraplegia, associated with peripheral neuropathy, skin pigment abnormalities (i.e. vitiligo, hyperpigmentation, diffuse lentigines), premature graying of hair and characteristic facies (i.e. thin with sharp features). The SPG23 phenotype has been mapped to a locus on chromosome 1q24-q32. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 4611840019 | A rare complex type of hereditary spastic paraplegia that presents in childhood with progressive spastic paraplegia, associated with peripheral neuropathy, skin pigment abnormalities (i.e. vitiligo, hyperpigmentation, diffuse lentigines), premature greying of hair and characteristic facies (i.e. thin with sharp features). The SPG23 phenotype has been mapped to a locus on chromosome 1q24-q32. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Autosomal recessive spastic paraplegia type 23 (disorder) | Is a | Autosomal recessive hereditary disorder | false | Inferred relationship | Some | ||
| Autosomal recessive spastic paraplegia type 23 (disorder) | Is a | Complicated hereditary spastic paraplegia | true | Inferred relationship | Some | ||
| Autosomal recessive spastic paraplegia type 23 (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | ||
| Autosomal recessive spastic paraplegia type 23 (disorder) | Finding site | Lower limb structure | false | Inferred relationship | Some | ||
| Autosomal recessive spastic paraplegia type 23 (disorder) | Associated morphology | Degeneration | false | Inferred relationship | Some | 3 | |
| Autosomal recessive spastic paraplegia type 23 (disorder) | Finding site | Spinal cord structure | false | Inferred relationship | Some | 3 | |
| Autosomal recessive spastic paraplegia type 23 (disorder) | Finding site | Cerebellar structure | false | Inferred relationship | Some | 3 | |
| Autosomal recessive spastic paraplegia type 23 (disorder) | Associated morphology | Degeneration | false | Inferred relationship | Some | 1 | |
| Autosomal recessive spastic paraplegia type 23 (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 1 | |
| Autosomal recessive spastic paraplegia type 23 (disorder) | Finding site | Spinal cord structure | true | Inferred relationship | Some | 1 | |
| Autosomal recessive spastic paraplegia type 23 (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 2 | |
| Autosomal recessive spastic paraplegia type 23 (disorder) | Finding site | Lower limb structure | false | Inferred relationship | Some | 2 | |
| Autosomal recessive spastic paraplegia type 23 (disorder) | Associated morphology | Degenerative abnormality | true | Inferred relationship | Some | 1 | |
| Autosomal recessive spastic paraplegia type 23 (disorder) | Is a | Autosomal recessive hereditary spastic paraplegia | true | Inferred relationship | Some | ||
| Autosomal recessive spastic paraplegia type 23 (disorder) | Clinical course | Progressive (qualifier value) | true | Inferred relationship | Some | 3 | |
| Autosomal recessive spastic paraplegia type 23 (disorder) | Interprets | Movement | true | Inferred relationship | Some | 6 | |
| Autosomal recessive spastic paraplegia type 23 (disorder) | Finding site | Structure of right lower limb (body structure) | true | Inferred relationship | Some | 2 | |
| Autosomal recessive spastic paraplegia type 23 (disorder) | Finding site | Structure of left lower limb (body structure) | true | Inferred relationship | Some | 5 | |
| Autosomal recessive spastic paraplegia type 23 (disorder) | Interprets | Movement observable | true | Inferred relationship | Some | 4 | |
| Autosomal recessive spastic paraplegia type 23 (disorder) | Has interpretation | Absent | true | Inferred relationship | Some | 4 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR