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789674008: Spastic paraplegia, optic atrophy, neuropathy and spastic paraplegia, optic atrophy neuropathy-related disorder (disorder)


Status: current, Primitive. Date: 31-Jan 2020. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3791513010 SPOAN and SPOAN-related disorder en Synonym Active Case sensitive SNOMED CT core
3791514016 Spastic paraplegia, optic atrophy, neuropathy and spastic paraplegia, optic atrophy neuropathy-related disorder en Synonym Active Case insensitive SNOMED CT core
3791515015 Spastic paraplegia, optic atrophy, neuropathy and spastic paraplegia, optic atrophy neuropathy-related disorder (disorder) en Fully specified name Active Case insensitive SNOMED CT core
3791516019 A group of rare genetic neurodegenerative diseases with characteristics of infancy to childhood onset of progressive spastic paraplegia (with delayed motor milestones, gait disturbances, hyperreflexia and extensor plantar responses), optic atrophy (which may be accompanied by nystagmus and visual loss) and progressive peripheral neuropathy (with sensory impairment and distal muscle weakness/atrophy in upper and lower extremities). Additional signs may include foot deformities, spinal defects (scoliosis, kyphosis), joint contractures, exaggerated startle response, speech disorders, hyperhidrosis, extrapyramidal signs and intellectual disability. In very rare cases, a variant phenotype with less prominent or absent optic atrophy and/or neuropathy may be observed. en Definition Active Case sensitive SNOMED CT core


4 descendants. Search Descendants:

Expanded Value Set


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

Inbound Relationships Type Active Source Characteristic Refinability Group
Autosomal recessive spastic paraplegia type 55 Is a True SPOAN and SPOAN-related disorder Inferred relationship Some
Autosomal recessive spastic paraplegia type 57 Is a True SPOAN and SPOAN-related disorder Inferred relationship Some
Spastic paraplegia, optic atrophy, neuropathy syndrome Is a True SPOAN and SPOAN-related disorder Inferred relationship Some
Autosomal recessive spastic paraplegia type 74 Is a True SPOAN and SPOAN-related disorder Inferred relationship Some

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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