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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
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


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Spastic paraplegia, optic atrophy, neuropathy syndrome (disorder) morphologie associée (attribut) Degenerative abnormality true Inferred relationship Some 1
Spastic paraplegia, optic atrophy, neuropathy syndrome (disorder) évolution clinique (attribut) progressif true Inferred relationship Some 4
Spastic paraplegia, optic atrophy, neuropathy syndrome (disorder) est un(e) (attribut) SPOAN and SPOAN-related disorder true Inferred relationship Some
Spastic paraplegia, optic atrophy, neuropathy syndrome (disorder) localisation d'une constatation (attribut) membre inférieur true Inferred relationship Some 3
Spastic paraplegia, optic atrophy, neuropathy syndrome (disorder) localisation d'une constatation (attribut) Optic nerve structure true Inferred relationship Some 2
Spastic paraplegia, optic atrophy, neuropathy syndrome (disorder) morphologie associée (attribut) Primary atrophy true Inferred relationship Some 2
Spastic paraplegia, optic atrophy, neuropathy syndrome (disorder) est un(e) (attribut) Hereditary optic atrophy false Inferred relationship Some
Spastic paraplegia, optic atrophy, neuropathy syndrome (disorder) est un(e) (attribut) Autosomal recessive hereditary disorder false Inferred relationship Some
Spastic paraplegia, optic atrophy, neuropathy syndrome (disorder) est un(e) (attribut) Complicated hereditary spastic paraplegia false Inferred relationship Some
Spastic paraplegia, optic atrophy, neuropathy syndrome (disorder) est un(e) (attribut) Hereditary motor and sensory neuropathy (disorder) false Inferred relationship Some
Spastic paraplegia, optic atrophy, neuropathy syndrome (disorder) est un(e) (attribut) Congenital atrophy of optic nerve (disorder) false Inferred relationship Some
Spastic paraplegia, optic atrophy, neuropathy syndrome (disorder) localisation d'une constatation (attribut) structure du système nerveux périphérique false Inferred relationship Some 4
Spastic paraplegia, optic atrophy, neuropathy syndrome (disorder) localisation d'une constatation (attribut) membre inférieur false Inferred relationship Some
Spastic paraplegia, optic atrophy, neuropathy syndrome (disorder) morphologie associée (attribut) dégénérescence false Inferred relationship Some 5
Spastic paraplegia, optic atrophy, neuropathy syndrome (disorder) localisation d'une constatation (attribut) moelle spinale (structure corporelle) false Inferred relationship Some 5
Spastic paraplegia, optic atrophy, neuropathy syndrome (disorder) localisation d'une constatation (attribut) structure cérébelleuse false Inferred relationship Some 5
Spastic paraplegia, optic atrophy, neuropathy syndrome (disorder) morphologie associée (attribut) Primary atrophy false Inferred relationship Some 6
Spastic paraplegia, optic atrophy, neuropathy syndrome (disorder) survenue (attribut) congénital false Inferred relationship Some 6
Spastic paraplegia, optic atrophy, neuropathy syndrome (disorder) localisation d'une constatation (attribut) Optic nerve structure false Inferred relationship Some 6
Spastic paraplegia, optic atrophy, neuropathy syndrome (disorder) morphologie associée (attribut) dégénérescence false Inferred relationship Some 1
Spastic paraplegia, optic atrophy, neuropathy syndrome (disorder) survenue (attribut) congénital false Inferred relationship Some 1
Spastic paraplegia, optic atrophy, neuropathy syndrome (disorder) localisation d'une constatation (attribut) moelle spinale (structure corporelle) true Inferred relationship Some 1
Spastic paraplegia, optic atrophy, neuropathy syndrome (disorder) survenue (attribut) congénital false Inferred relationship Some 2
Spastic paraplegia, optic atrophy, neuropathy syndrome (disorder) localisation d'une constatation (attribut) membre inférieur false Inferred relationship Some 2

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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