Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). 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 (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
5159312016 | Spastic paraplegia, intellectual disability, nystagmus, obesity syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
5159313014 | SINO syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | 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 | Entire term case sensitive (core metadata concept) | 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 | Entire term case sensitive (core metadata concept) | SNOMED CT core |
13667911000172110 | syndroom van spastische paraplegie, mentale retardatie, nystagmus en adipositas | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | Belgian module (core metadata concept) |
13667921000172117 | syndroom van spastische paraplegie, verstandelijke handicap, nystagmus en obesitas | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | Belgian module (core metadata concept) |
13667931000172119 | syndroom van spastische paraplegie, verstandelijke beperking, nystagmus en obesitas | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | Belgian module (core metadata concept) |
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 (disorder) | 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 (disorder) | true | Inferred relationship | Some | ||
Spastic paraplegia, intellectual disability, nystagmus, obesity syndrome | Is a | Obesity (disorder) | true | Inferred relationship | Some | ||
Spastic paraplegia, intellectual disability, nystagmus, obesity syndrome | Clinical course | Progressive (qualifier value) | 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 (body structure) | true | Inferred relationship | Some | 6 | |
Spastic paraplegia, intellectual disability, nystagmus, obesity syndrome | Finding site | Structure of left lower limb (body structure) | true | Inferred relationship | Some | 8 | |
Spastic paraplegia, intellectual disability, nystagmus, obesity syndrome | Finding site | Structure of right lower limb (body structure) | true | Inferred relationship | Some | 9 | |
Spastic paraplegia, intellectual disability, nystagmus, obesity syndrome | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 7 | |
Spastic paraplegia, intellectual disability, nystagmus, obesity syndrome | Interprets | Intellectual ability (observable entity) | 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 behavior (observable entity) | 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 |
This concept is not in any reference sets