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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
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)


0 descendants.

Expanded Value Set


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

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