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1260134001: Spastic paraplegia, intellectual disability, nystagmus, obesity syndrome (disorder)


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


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Spastic paraplegia, intellectual disability, nystagmus, obesity syndrome (disorder) Is a Intelligenzminderung true Inferred relationship Existential restriction modifier (core metadata concept)
Spastic paraplegia, intellectual disability, nystagmus, obesity syndrome (disorder) Is a Autosomal dominant complex hereditary spastic paraplegia (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Spastic paraplegia, intellectual disability, nystagmus, obesity syndrome (disorder) Is a Global developmental delay true Inferred relationship Existential restriction modifier (core metadata concept)
Spastic paraplegia, intellectual disability, nystagmus, obesity syndrome (disorder) Is a Developmental hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Spastic paraplegia, intellectual disability, nystagmus, obesity syndrome (disorder) Is a Hereditary disorder of the visual system (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Spastic paraplegia, intellectual disability, nystagmus, obesity syndrome (disorder) Is a Obesity true Inferred relationship Existential restriction modifier (core metadata concept)
Spastic paraplegia, intellectual disability, nystagmus, obesity syndrome (disorder) Clinical course Progressive true Inferred relationship Existential restriction modifier (core metadata concept) 5
Spastic paraplegia, intellectual disability, nystagmus, obesity syndrome (disorder) Interprets Movement true Inferred relationship Existential restriction modifier (core metadata concept) 10
Spastic paraplegia, intellectual disability, nystagmus, obesity syndrome (disorder) Finding site The eye, ocular adnexa, afferent visual pathways, efferent visual pathways, and pupil innervation pathways true Inferred relationship Existential restriction modifier (core metadata concept) 6
Spastic paraplegia, intellectual disability, nystagmus, obesity syndrome (disorder) Finding site Structure of left lower limb (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 8
Spastic paraplegia, intellectual disability, nystagmus, obesity syndrome (disorder) Finding site Structure of right lower limb (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 9
Spastic paraplegia, intellectual disability, nystagmus, obesity syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 7
Spastic paraplegia, intellectual disability, nystagmus, obesity syndrome (disorder) Interprets Intellectual ability (observable entity) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Spastic paraplegia, intellectual disability, nystagmus, obesity syndrome (disorder) Has interpretation Impaired (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Spastic paraplegia, intellectual disability, nystagmus, obesity syndrome (disorder) Interprets Adaptation behavior true Inferred relationship Existential restriction modifier (core metadata concept) 3
Spastic paraplegia, intellectual disability, nystagmus, obesity syndrome (disorder) Has interpretation Impaired (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Spastic paraplegia, intellectual disability, nystagmus, obesity syndrome (disorder) Interprets Measured body weight (observable entity) true Inferred relationship Existential restriction modifier (core metadata concept) 4
Spastic paraplegia, intellectual disability, nystagmus, obesity syndrome (disorder) Has interpretation Above reference range true Inferred relationship Existential restriction modifier (core metadata concept) 4
Spastic paraplegia, intellectual disability, nystagmus, obesity syndrome (disorder) Interprets Movement observable true Inferred relationship Existential restriction modifier (core metadata concept) 11
Spastic paraplegia, intellectual disability, nystagmus, obesity syndrome (disorder) Has interpretation Absent true Inferred relationship Existential restriction modifier (core metadata concept) 11
Spastic paraplegia, intellectual disability, nystagmus, obesity syndrome (disorder) Finding site Spinal cord structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Spastic paraplegia, intellectual disability, nystagmus, obesity syndrome (disorder) Associated morphology Degenerative abnormality (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 1

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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