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 |
3499466016 | Spastic paraplegia, glaucoma, intellectual disability syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3499467013 | Spastic paraplegia, glaucoma, intellectual disability syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3500003016 | Syndrome with characteristics of progressive spastic paraplegia, glaucoma and intellectual deficit. It has been described in two families. The second described sibship was born to consanguineous parents. The mode of inheritance is autosomal recessive. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
913781000172116 | syndrome de paraplégie spastique-glaucome-déficience intellectuelle | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Spastic paraplegia, glaucoma, intellectual disability syndrome | Is a | Autosomal recessive hereditary disorder | false | Inferred relationship | Some | ||
Spastic paraplegia, glaucoma, intellectual disability syndrome | Is a | retard mental | false | Inferred relationship | Some | ||
Spastic paraplegia, glaucoma, intellectual disability syndrome | Is a | Congenital glaucoma | false | Inferred relationship | Some | ||
Spastic paraplegia, glaucoma, intellectual disability syndrome | Is a | Complicated hereditary spastic paraplegia | true | Inferred relationship | Some | ||
Spastic paraplegia, glaucoma, intellectual disability syndrome | Is a | Hereditary disorder of the visual system (disorder) | true | Inferred relationship | Some | ||
Spastic paraplegia, glaucoma, intellectual disability syndrome | Occurrence | Congenital | false | Inferred relationship | Some | 3 | |
Spastic paraplegia, glaucoma, intellectual disability syndrome | Finding site | Eye structure | false | Inferred relationship | Some | 3 | |
Spastic paraplegia, glaucoma, intellectual disability syndrome | Associated morphology | dégénérescence | false | Inferred relationship | Some | 4 | |
Spastic paraplegia, glaucoma, intellectual disability syndrome | Finding site | Spinal cord structure | true | Inferred relationship | Some | 4 | |
Spastic paraplegia, glaucoma, intellectual disability syndrome | Finding site | Cerebellar structure | false | Inferred relationship | Some | 4 | |
Spastic paraplegia, glaucoma, intellectual disability syndrome | Occurrence | Congenital | false | Inferred relationship | Some | 5 | |
Spastic paraplegia, glaucoma, intellectual disability syndrome | Finding site | Lower limb structure | false | Inferred relationship | Some | 5 | |
Spastic paraplegia, glaucoma, intellectual disability syndrome | Associated morphology | dégénérescence | false | Inferred relationship | Some | 1 | |
Spastic paraplegia, glaucoma, intellectual disability syndrome | Occurrence | Congenital | false | Inferred relationship | Some | 1 | |
Spastic paraplegia, glaucoma, intellectual disability syndrome | Finding site | Spinal cord structure | false | Inferred relationship | Some | 1 | |
Spastic paraplegia, glaucoma, intellectual disability syndrome | Is a | Intellectual disability | true | Inferred relationship | Some | ||
Spastic paraplegia, glaucoma, intellectual disability syndrome | Pathological process (attribute) | Pathological developmental process | false | Inferred relationship | Some | 2 | |
Spastic paraplegia, glaucoma, intellectual disability syndrome | Associated morphology | Degenerative abnormality | true | Inferred relationship | Some | 4 | |
Spastic paraplegia, glaucoma, intellectual disability syndrome | Occurrence | Congenital | false | Inferred relationship | Some | 4 | |
Spastic paraplegia, glaucoma, intellectual disability syndrome | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
Spastic paraplegia, glaucoma, intellectual disability syndrome | Occurrence | Congenital | false | Inferred relationship | Some | 2 | |
Spastic paraplegia, glaucoma, intellectual disability syndrome | Finding site | Eye structure | false | Inferred relationship | Some | 2 | |
Spastic paraplegia, glaucoma, intellectual disability syndrome | Is a | Autosomal recessive hereditary spastic paraplegia | true | Inferred relationship | Some | ||
Spastic paraplegia, glaucoma, intellectual disability syndrome | Is a | Chronic mental disorder | false | Inferred relationship | Some | ||
Spastic paraplegia, glaucoma, intellectual disability syndrome | Clinical course | Progressive (qualifier value) | true | Inferred relationship | Some | 3 | |
Spastic paraplegia, glaucoma, intellectual disability syndrome | Is a | Glaucoma | true | Inferred relationship | Some | ||
Spastic paraplegia, glaucoma, intellectual disability syndrome | Finding site | Eye structure | true | Inferred relationship | Some | 1 | |
Spastic paraplegia, glaucoma, intellectual disability syndrome | Finding site | Lower limb structure | false | Inferred relationship | Some | 2 | |
Spastic paraplegia, glaucoma, intellectual disability syndrome | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 5 | |
Spastic paraplegia, glaucoma, intellectual disability syndrome | Interprets | Intellectual ability (observable entity) | true | Inferred relationship | Some | 6 | |
Spastic paraplegia, glaucoma, intellectual disability syndrome | Has interpretation | Impaired | true | Inferred relationship | Some | 6 | |
Spastic paraplegia, glaucoma, intellectual disability syndrome | Interprets | Adaptation behavior (observable entity) | true | Inferred relationship | Some | 7 | |
Spastic paraplegia, glaucoma, intellectual disability syndrome | Has interpretation | Impaired | true | Inferred relationship | Some | 7 | |
Spastic paraplegia, glaucoma, intellectual disability syndrome | Interprets | Movement | true | Inferred relationship | Some | 8 | |
Spastic paraplegia, glaucoma, intellectual disability syndrome | Finding site | Structure of right lower limb (body structure) | true | Inferred relationship | Some | 2 | |
Spastic paraplegia, glaucoma, intellectual disability syndrome | Interprets | Movement observable | true | Inferred relationship | Some | 10 | |
Spastic paraplegia, glaucoma, intellectual disability syndrome | Finding site | Structure of left lower limb (body structure) | true | Inferred relationship | Some | 9 | |
Spastic paraplegia, glaucoma, intellectual disability syndrome | Has interpretation | Absent | true | Inferred relationship | Some | 10 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets