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


Status: current, Primitive. 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 Case insensitive SNOMED CT core
3439366017 Spastic paraplegia, optic atrophy, neuropathy syndrome en Synonym Active Case insensitive SNOMED CT core
3439367014 SPOAN (spastic paraplegia, optic atrophy, neuropathy) syndrome en Synonym Active Case sensitive 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 Case sensitive SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Spastic paraplegia, optic atrophy, neuropathy syndrome Associated morphology Degenerative abnormality true Inferred relationship Some 1
Spastic paraplegia, optic atrophy, neuropathy syndrome Clinical course Progressive true Inferred relationship Some 4
Spastic paraplegia, optic atrophy, neuropathy syndrome Is a SPOAN and SPOAN-related disorder true Inferred relationship Some
Spastic paraplegia, optic atrophy, neuropathy syndrome Finding site Structure of lower limb false Inferred relationship Some 3
Spastic paraplegia, optic atrophy, neuropathy syndrome Finding site Optic nerve structure true Inferred relationship Some 2
Spastic paraplegia, optic atrophy, neuropathy syndrome Associated morphology Primary atrophy true Inferred relationship Some 2
Spastic paraplegia, optic atrophy, neuropathy syndrome Interprets Movement true Inferred relationship Some 5
Spastic paraplegia, optic atrophy, neuropathy syndrome Finding site Structure of left lower limb true Inferred relationship Some 6
Spastic paraplegia, optic atrophy, neuropathy syndrome Finding site Structure of right lower limb true Inferred relationship Some 7
Spastic paraplegia, optic atrophy, neuropathy syndrome Interprets Movement observable true Inferred relationship Some 3
Spastic paraplegia, optic atrophy, neuropathy syndrome Has interpretation Absent true Inferred relationship Some 3
Spastic paraplegia, optic atrophy, neuropathy syndrome Is a Hereditary optic atrophy false Inferred relationship Some
Spastic paraplegia, optic atrophy, neuropathy syndrome Is a Autosomal recessive hereditary disorder false Inferred relationship Some
Spastic paraplegia, optic atrophy, neuropathy syndrome Is a Complicated hereditary spastic paraplegia false Inferred relationship Some
Spastic paraplegia, optic atrophy, neuropathy syndrome Is a Hereditary motor and sensory neuropathy false Inferred relationship Some
Spastic paraplegia, optic atrophy, neuropathy syndrome Is a Congenital atrophy of optic nerve false Inferred relationship Some
Spastic paraplegia, optic atrophy, neuropathy syndrome Finding site Peripheral nervous system structure false Inferred relationship Some 4
Spastic paraplegia, optic atrophy, neuropathy syndrome Finding site Structure of lower limb false Inferred relationship Some
Spastic paraplegia, optic atrophy, neuropathy syndrome Associated morphology Degeneration false Inferred relationship Some 5
Spastic paraplegia, optic atrophy, neuropathy syndrome Finding site Spinal cord structure false Inferred relationship Some 5
Spastic paraplegia, optic atrophy, neuropathy syndrome Finding site Cerebellar structure false Inferred relationship Some 5
Spastic paraplegia, optic atrophy, neuropathy syndrome Associated morphology Primary atrophy false Inferred relationship Some 6
Spastic paraplegia, optic atrophy, neuropathy syndrome Occurrence Congenital false Inferred relationship Some 6
Spastic paraplegia, optic atrophy, neuropathy syndrome Finding site Optic nerve structure false Inferred relationship Some 6
Spastic paraplegia, optic atrophy, neuropathy syndrome Associated morphology Degeneration false Inferred relationship Some 1
Spastic paraplegia, optic atrophy, neuropathy syndrome Occurrence Congenital false Inferred relationship Some 1
Spastic paraplegia, optic atrophy, neuropathy syndrome Finding site Spinal cord structure true Inferred relationship Some 1
Spastic paraplegia, optic atrophy, neuropathy syndrome Occurrence Congenital false Inferred relationship Some 2
Spastic paraplegia, optic atrophy, neuropathy syndrome Finding site Structure of lower limb false Inferred relationship Some 2

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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