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725139005: Spastic paraplegia, optic atrophy, neuropathy syndrome (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3439365018 Spastic paraplegia, optic atrophy, neuropathy syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3439366017 Spastic paraplegia, optic atrophy, neuropathy syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3439367014 SPOAN (spastic paraplegia, optic atrophy, neuropathy) syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403410013 A rare, complex type of hereditary spastic paraplegia characterized by early-onset progressive spastic paraplegia presenting in infancy, associated with optic atrophy, fixation nystagmus, polyneuropathy occurring in late childhood/early adolescence leading to severe motor disability and progressive joint contractures and scoliosis. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403411012 A rare, complex type of hereditary spastic paraplegia characterised by early-onset progressive spastic paraplegia presenting in infancy, associated with optic atrophy, fixation nystagmus, polyneuropathy occurring in late childhood/early adolescence leading to severe motor disability and progressive joint contractures and scoliosis. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3439365018 Spastic paraplegia, optic atrophy, neuropathy syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3439366017 Spastic paraplegia, optic atrophy, neuropathy syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3439367014 SPOAN (spastic paraplegia, optic atrophy, neuropathy) syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3439368016 A rare complex type of hereditary spastic paraplegia with characteristics of early-onset progressive spastic paraplegia presenting in infancy. The disease is associated with optic atrophy, fixation nystagmus and polyneuropathy occurring in late childhood/early adolescence leading to severe motor disability and progressive joint contractures and scoliosis. Caused by mutations in the KLC2 gene (11q13.1), encoding kinesin light chain 2. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403410013 A rare, complex type of hereditary spastic paraplegia characterized by early-onset progressive spastic paraplegia presenting in infancy, associated with optic atrophy, fixation nystagmus, polyneuropathy occurring in late childhood/early adolescence leading to severe motor disability and progressive joint contractures and scoliosis. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403411012 A rare, complex type of hereditary spastic paraplegia characterised by early-onset progressive spastic paraplegia presenting in infancy, associated with optic atrophy, fixation nystagmus, polyneuropathy occurring in late childhood/early adolescence leading to severe motor disability and progressive joint contractures and scoliosis. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
536121000274115 SPOAN de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3388401001000112 Spastische Paraplegie-Optikusatrophie-Neuropathie-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
536121000274115 SPOAN de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3388401001000112 Spastische Paraplegie-Optikusatrophie-Neuropathie-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, optic atrophy, neuropathy syndrome (disorder) Is a Hereditary optic atrophy (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
Spastic paraplegia, optic atrophy, neuropathy syndrome (disorder) Is a Autosomal recessive hereditary disorder false Inferred relationship Existential restriction modifier (core metadata concept)
Spastic paraplegia, optic atrophy, neuropathy syndrome (disorder) Is a Complicated hereditary spastic paraplegia (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
Spastic paraplegia, optic atrophy, neuropathy syndrome (disorder) Is a Hereditary motor and sensory neuropathy (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
Spastic paraplegia, optic atrophy, neuropathy syndrome (disorder) Is a Congenital atrophy of optic nerve (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
Spastic paraplegia, optic atrophy, neuropathy syndrome (disorder) Finding site Peripheral nervous system structure false Inferred relationship Existential restriction modifier (core metadata concept) 4
Spastic paraplegia, optic atrophy, neuropathy syndrome (disorder) Finding site Lower limb structure (body structure) false Inferred relationship Existential restriction modifier (core metadata concept)
Spastic paraplegia, optic atrophy, neuropathy syndrome (disorder) Associated morphology dégénérescence false Inferred relationship Existential restriction modifier (core metadata concept) 5
Spastic paraplegia, optic atrophy, neuropathy syndrome (disorder) Finding site Spinal cord structure false Inferred relationship Existential restriction modifier (core metadata concept) 5
Spastic paraplegia, optic atrophy, neuropathy syndrome (disorder) Finding site Cerebellar structure (body structure) false Inferred relationship Existential restriction modifier (core metadata concept) 5
Spastic paraplegia, optic atrophy, neuropathy syndrome (disorder) Associated morphology Primary atrophy false Inferred relationship Existential restriction modifier (core metadata concept) 6
Spastic paraplegia, optic atrophy, neuropathy syndrome (disorder) Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 6
Spastic paraplegia, optic atrophy, neuropathy syndrome (disorder) Finding site Optic nerve structure false Inferred relationship Existential restriction modifier (core metadata concept) 6
Spastic paraplegia, optic atrophy, neuropathy syndrome (disorder) Associated morphology dégénérescence false Inferred relationship Existential restriction modifier (core metadata concept) 1
Spastic paraplegia, optic atrophy, neuropathy syndrome (disorder) Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 1
Spastic paraplegia, optic atrophy, neuropathy syndrome (disorder) Finding site Spinal cord structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Spastic paraplegia, optic atrophy, neuropathy syndrome (disorder) Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 2
Spastic paraplegia, optic atrophy, neuropathy syndrome (disorder) Finding site Lower limb structure (body structure) false Inferred relationship Existential restriction modifier (core metadata concept) 2
Spastic paraplegia, optic atrophy, neuropathy syndrome (disorder) Associated morphology Degenerative abnormality (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Spastic paraplegia, optic atrophy, neuropathy syndrome (disorder) Clinical course Progressive true Inferred relationship Existential restriction modifier (core metadata concept) 4
Spastic paraplegia, optic atrophy, neuropathy syndrome (disorder) Is a SPOAN and SPOAN-related disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Spastic paraplegia, optic atrophy, neuropathy syndrome (disorder) Finding site Lower limb structure (body structure) false Inferred relationship Existential restriction modifier (core metadata concept) 3
Spastic paraplegia, optic atrophy, neuropathy syndrome (disorder) Finding site Optic nerve structure true Inferred relationship Existential restriction modifier (core metadata concept) 2
Spastic paraplegia, optic atrophy, neuropathy syndrome (disorder) Associated morphology Primary atrophy true Inferred relationship Existential restriction modifier (core metadata concept) 2
Spastic paraplegia, optic atrophy, neuropathy syndrome (disorder) Interprets Movement true Inferred relationship Existential restriction modifier (core metadata concept) 5
Spastic paraplegia, optic atrophy, neuropathy syndrome (disorder) Finding site Structure of left lower limb (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 6
Spastic paraplegia, optic atrophy, neuropathy syndrome (disorder) Finding site Structure of right lower limb (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 7
Spastic paraplegia, optic atrophy, neuropathy syndrome (disorder) Interprets Movement observable true Inferred relationship Existential restriction modifier (core metadata concept) 3
Spastic paraplegia, optic atrophy, neuropathy syndrome (disorder) Has interpretation Absent true Inferred relationship Existential restriction modifier (core metadata concept) 3

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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

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