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763068005: Autosomal dominant spastic paraplegia type 31 (disorder)


Status: current, Primitive. Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3637764017 Autosomal dominant spastic paraplegia type 31 (disorder) en Fully specified name Active Case insensitive SNOMED CT core
3637765016 Autosomal dominant spastic paraplegia type 31 en Synonym Active Case insensitive SNOMED CT core
3637766015 A type of hereditary spastic paraplegia with usual characteristics of pure phenotype of proximal weakness of the lower extremities with spastic gait and brisk reflexes, with a bimodal age of onset of either childhood or adulthood (more than 30 years). In some cases, it can present as a complex phenotype with additional associated manifestations including peripheral neuropathy, bulbar palsy (with dysarthria and dysphagia), distal amyotrophy, and impaired distal vibration sense. en Definition Active Case sensitive SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Autosomal dominant spastic paraplegia type 31 Associated morphology Degenerative abnormality false Inferred relationship Some 2
Autosomal dominant spastic paraplegia type 31 Clinical course Progressive true Inferred relationship Some 3
Autosomal dominant spastic paraplegia type 31 Finding site Structure of lower limb false Inferred relationship Some 2
Autosomal dominant spastic paraplegia type 31 Finding site Spinal cord structure true Inferred relationship Some 1
Autosomal dominant spastic paraplegia type 31 Associated morphology Degenerative abnormality true Inferred relationship Some 1
Autosomal dominant spastic paraplegia type 31 Interprets Movement true Inferred relationship Some 6
Autosomal dominant spastic paraplegia type 31 Finding site Structure of right lower limb true Inferred relationship Some 4
Autosomal dominant spastic paraplegia type 31 Finding site Structure of left lower limb true Inferred relationship Some 5
Autosomal dominant spastic paraplegia type 31 Interprets Movement observable true Inferred relationship Some 2
Autosomal dominant spastic paraplegia type 31 Has interpretation Absent true Inferred relationship Some 2
Autosomal dominant spastic paraplegia type 31 Is a Autosomal dominant hereditary spastic paraplegia true Inferred relationship Some
Autosomal dominant spastic paraplegia type 31 Occurrence Congenital false Inferred relationship Some 2
Autosomal dominant spastic paraplegia type 31 Associated morphology Degeneration false Inferred relationship Some 2
Autosomal dominant spastic paraplegia type 31 Finding site Spinal cord structure false Inferred relationship Some 2
Autosomal dominant spastic paraplegia type 31 Occurrence Congenital false Inferred relationship Some 1
Autosomal dominant spastic paraplegia type 31 Finding site Structure of lower limb false Inferred relationship Some 1

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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