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785305006: Autosomal dominant spastic paraplegia type 8 (disorder)


Status: current, Primitive. Date: 31-Jul 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3766856017 Autosomal dominant spastic paraplegia type 8 en Synonym Active Case insensitive SNOMED CT core
3766857014 Autosomal dominant spastic paraplegia type 8 (disorder) en Fully specified name Active Case insensitive SNOMED CT core
3766858016 A pure or complex form of hereditary spastic paraplegia with characteristics of a childhood to adulthood onset of slowly progressive lower limb spasticity resulting in gait disturbances, hyperreflexia and extensor plantar responses, that may be associated with complicating signs, such as upper limb involvement, sensory neuropathy, ataxia (such as mild dysmetria, uncoordinated eye movement) and mild dysphagia. Additional symptoms, including urinary urgency and/or incontinence, muscle weakness, decreased vibration sense and mild muscular atrophy in lower extremities, may also be associated. Caused by heterozygous mutation in the WASHC5 gene on chromosome 8q24. 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 8 Occurrence Congenital false Inferred relationship Some 1
Autosomal dominant spastic paraplegia type 8 Finding site Spinal cord structure true Inferred relationship Some 1
Autosomal dominant spastic paraplegia type 8 Associated morphology Degeneration false Inferred relationship Some 1
Autosomal dominant spastic paraplegia type 8 Is a Chronic paraplegia false Inferred relationship Some
Autosomal dominant spastic paraplegia type 8 Is a Autosomal dominant hereditary spastic paraplegia true Inferred relationship Some
Autosomal dominant spastic paraplegia type 8 Clinical course Progressive true Inferred relationship Some 2
Autosomal dominant spastic paraplegia type 8 Finding site Structure of lower limb false Inferred relationship Some 3
Autosomal dominant spastic paraplegia type 8 Associated morphology Degenerative abnormality true Inferred relationship Some 1
Autosomal dominant spastic paraplegia type 8 Interprets Movement true Inferred relationship Some 6
Autosomal dominant spastic paraplegia type 8 Finding site Structure of right lower limb true Inferred relationship Some 4
Autosomal dominant spastic paraplegia type 8 Finding site Structure of left lower limb true Inferred relationship Some 5
Autosomal dominant spastic paraplegia type 8 Interprets Movement observable true Inferred relationship Some 3
Autosomal dominant spastic paraplegia type 8 Has interpretation Absent true Inferred relationship Some 3

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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