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 |
5400408012 | 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 brachy 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 |
5400409016 | 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 brachy 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 |
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 |
5400408012 | 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 brachy 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 |
5400409016 | 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 brachy 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 |
531701000274116 | SINO-Syndrom | de | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
566441000274110 | Spastische Paraplegie-Intelligenzminderung-Nystagmus-Adipositas-Syndrom | de | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
531701000274116 | SINO-Syndrom | de | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
566441000274110 | Spastische Paraplegie-Intelligenzminderung-Nystagmus-Adipositas-Syndrom | de | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)