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773425000: Autosomal recessive spastic paraplegia type 59 (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3723510010 A very rare complex hereditary spastic paraplegia with characteristics of early onset of progressive lower limb spasticity, tip-toe walking, scissor gait, hyperreflexia and clonus that may be associated with borderline intellectual disability. Nystagmus and pes equinovarus have also been reported. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3723508013 Autosomal recessive spastic paraplegia type 59 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3723509017 Autosomal recessive spastic paraplegia type 59 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
A very rare complex hereditary spastic paraplegia with characteristics of early onset of progressive lower limb spasticity, tip-toe walking, scissor gait, hyperreflexia and clonus that may be associated with borderline intellectual disability. Nystagmus and pes equinovarus have also been reported. Occurrence Congenital false Inferred relationship Some 1
A very rare complex hereditary spastic paraplegia with characteristics of early onset of progressive lower limb spasticity, tip-toe walking, scissor gait, hyperreflexia and clonus that may be associated with borderline intellectual disability. Nystagmus and pes equinovarus have also been reported. Associated morphology Degeneration false Inferred relationship Some 1
A very rare complex hereditary spastic paraplegia with characteristics of early onset of progressive lower limb spasticity, tip-toe walking, scissor gait, hyperreflexia and clonus that may be associated with borderline intellectual disability. Nystagmus and pes equinovarus have also been reported. Occurrence Congenital false Inferred relationship Some 2
A very rare complex hereditary spastic paraplegia with characteristics of early onset of progressive lower limb spasticity, tip-toe walking, scissor gait, hyperreflexia and clonus that may be associated with borderline intellectual disability. Nystagmus and pes equinovarus have also been reported. Is a Autosomal recessive hereditary disorder false Inferred relationship Some
A very rare complex hereditary spastic paraplegia with characteristics of early onset of progressive lower limb spasticity, tip-toe walking, scissor gait, hyperreflexia and clonus that may be associated with borderline intellectual disability. Nystagmus and pes equinovarus have also been reported. Is a Complicated hereditary spastic paraplegia true Inferred relationship Some
A very rare complex hereditary spastic paraplegia with characteristics of early onset of progressive lower limb spasticity, tip-toe walking, scissor gait, hyperreflexia and clonus that may be associated with borderline intellectual disability. Nystagmus and pes equinovarus have also been reported. Finding site Body structure that includes the hip, thigh, leg, ankle and foot. false Inferred relationship Some 2
A very rare complex hereditary spastic paraplegia with characteristics of early onset of progressive lower limb spasticity, tip-toe walking, scissor gait, hyperreflexia and clonus that may be associated with borderline intellectual disability. Nystagmus and pes equinovarus have also been reported. Finding site Spinal cord structure true Inferred relationship Some 1
A very rare complex hereditary spastic paraplegia with characteristics of early onset of progressive lower limb spasticity, tip-toe walking, scissor gait, hyperreflexia and clonus that may be associated with borderline intellectual disability. Nystagmus and pes equinovarus have also been reported. Associated morphology Degenerative abnormality true Inferred relationship Some 1
A very rare complex hereditary spastic paraplegia with characteristics of early onset of progressive lower limb spasticity, tip-toe walking, scissor gait, hyperreflexia and clonus that may be associated with borderline intellectual disability. Nystagmus and pes equinovarus have also been reported. Is a Autosomal recessive hereditary spastic paraplegia true Inferred relationship Some
A very rare complex hereditary spastic paraplegia with characteristics of early onset of progressive lower limb spasticity, tip-toe walking, scissor gait, hyperreflexia and clonus that may be associated with borderline intellectual disability. Nystagmus and pes equinovarus have also been reported. Clinical course Progressive true Inferred relationship Some 3
A very rare complex hereditary spastic paraplegia with characteristics of early onset of progressive lower limb spasticity, tip-toe walking, scissor gait, hyperreflexia and clonus that may be associated with borderline intellectual disability. Nystagmus and pes equinovarus have also been reported. Interprets Movement true Inferred relationship Some 6
A very rare complex hereditary spastic paraplegia with characteristics of early onset of progressive lower limb spasticity, tip-toe walking, scissor gait, hyperreflexia and clonus that may be associated with borderline intellectual disability. Nystagmus and pes equinovarus have also been reported. Finding site Structure of right lower limb (body structure) true Inferred relationship Some 2
A very rare complex hereditary spastic paraplegia with characteristics of early onset of progressive lower limb spasticity, tip-toe walking, scissor gait, hyperreflexia and clonus that may be associated with borderline intellectual disability. Nystagmus and pes equinovarus have also been reported. Finding site Structure of left lower limb (body structure) true Inferred relationship Some 5
A very rare complex hereditary spastic paraplegia with characteristics of early onset of progressive lower limb spasticity, tip-toe walking, scissor gait, hyperreflexia and clonus that may be associated with borderline intellectual disability. Nystagmus and pes equinovarus have also been reported. Interprets Movement observable (observable entity) true Inferred relationship Some 4
A very rare complex hereditary spastic paraplegia with characteristics of early onset of progressive lower limb spasticity, tip-toe walking, scissor gait, hyperreflexia and clonus that may be associated with borderline intellectual disability. Nystagmus and pes equinovarus have also been reported. Has interpretation Absent true Inferred relationship Some 4

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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