Status: current, Primitive. Date: 31-Dec 2022. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 5159311011 | Spastic paraplegia, intellectual disability, nystagmus, obesity syndrome | en | Synonym | Active | Case insensitive | SNOMED CT core |
| 5159312016 | Spastic paraplegia, intellectual disability, nystagmus, obesity syndrome (disorder) | en | Fully specified name | Active | Case insensitive | SNOMED CT core |
| 5159313014 | SINO syndrome | en | Synonym | Active | Case sensitive | SNOMED CT core |
| 5159314015 | A rare genetic neurological disorder characterized by the association of congenital spastic paraplegia with global developmental delay and intellectual disability, ophthalmologic abnormalities (including nystagmus, reduced visual acuity or hypermetropia) and obesity. Additional manifestations are brachycephaly/plagiocephaly and dysmorphic facial features. Brain imaging may show dilated ventricles, abnormal myelination and mild generalized atrophy. Homozygous loss-of-function variants of KIDINS220 associated with a fetal lethal phenotype with ventriculomegaly and limb contractures have been reported. | en | Definition | Active | Case sensitive | SNOMED CT core |
| 5159315019 | A rare genetic neurological disorder characterised by the association of congenital spastic paraplegia with global developmental delay and intellectual disability, ophthalmologic abnormalities (including nystagmus, reduced visual acuity or hypermetropia) and obesity. Additional manifestations are brachycephaly/plagiocephaly and dysmorphic facial features. Brain imaging may show dilated ventricles, abnormal myelination and mild generalised atrophy. Homozygous loss-of-function variants of KIDINS220 associated with a fetal lethal phenotype with ventriculomegaly and limb contractures have been reported. | en | Definition | Active | Case sensitive | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Spastic paraplegia, intellectual disability, nystagmus, obesity syndrome | Is a | Intellectual disability | true | Inferred relationship | Some | ||
| Spastic paraplegia, intellectual disability, nystagmus, obesity syndrome | Is a | Autosomal dominant complex hereditary spastic paraplegia | true | Inferred relationship | Some | ||
| Spastic paraplegia, intellectual disability, nystagmus, obesity syndrome | Is a | Global developmental delay | true | Inferred relationship | Some | ||
| Spastic paraplegia, intellectual disability, nystagmus, obesity syndrome | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| Spastic paraplegia, intellectual disability, nystagmus, obesity syndrome | Is a | Hereditary disorder of the visual system | true | Inferred relationship | Some | ||
| Spastic paraplegia, intellectual disability, nystagmus, obesity syndrome | Is a | Obesity | true | Inferred relationship | Some | ||
| Spastic paraplegia, intellectual disability, nystagmus, obesity syndrome | Clinical course | Progressive | true | Inferred relationship | Some | 5 | |
| Spastic paraplegia, intellectual disability, nystagmus, obesity syndrome | Interprets | Movement | true | Inferred relationship | Some | 10 | |
| Spastic paraplegia, intellectual disability, nystagmus, obesity syndrome | Finding site | Structure of visual system | true | Inferred relationship | Some | 6 | |
| Spastic paraplegia, intellectual disability, nystagmus, obesity syndrome | Finding site | Structure of left lower limb | true | Inferred relationship | Some | 8 | |
| Spastic paraplegia, intellectual disability, nystagmus, obesity syndrome | Finding site | Structure of right lower limb | true | Inferred relationship | Some | 9 | |
| Spastic paraplegia, intellectual disability, nystagmus, obesity syndrome | Pathological process | Pathological developmental process | true | Inferred relationship | Some | 7 | |
| Spastic paraplegia, intellectual disability, nystagmus, obesity syndrome | Interprets | Intellectual ability | true | Inferred relationship | Some | 2 | |
| Spastic paraplegia, intellectual disability, nystagmus, obesity syndrome | Has interpretation | Impaired | true | Inferred relationship | Some | 2 | |
| Spastic paraplegia, intellectual disability, nystagmus, obesity syndrome | Interprets | Adaptation behaviour | true | Inferred relationship | Some | 3 | |
| Spastic paraplegia, intellectual disability, nystagmus, obesity syndrome | Has interpretation | Impaired | true | Inferred relationship | Some | 3 | |
| Spastic paraplegia, intellectual disability, nystagmus, obesity syndrome | Interprets | Body weight measure | true | Inferred relationship | Some | 4 | |
| Spastic paraplegia, intellectual disability, nystagmus, obesity syndrome | Has interpretation | Above reference range | true | Inferred relationship | Some | 4 | |
| Spastic paraplegia, intellectual disability, nystagmus, obesity syndrome | Interprets | Movement observable | true | Inferred relationship | Some | 11 | |
| Spastic paraplegia, intellectual disability, nystagmus, obesity syndrome | Has interpretation | Absent | true | Inferred relationship | Some | 11 | |
| Spastic paraplegia, intellectual disability, nystagmus, obesity syndrome | Finding site | Spinal cord structure | true | Inferred relationship | Some | 1 | |
| Spastic paraplegia, intellectual disability, nystagmus, obesity syndrome | Associated morphology | Degenerative abnormality | true | Inferred relationship | Some | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Clinical finding foundation reference set
Problem/Diagnosis reference set
FHIR