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785305006: Autosomal dominant spastic paraplegia type 8 (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). 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 (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3766857014 Autosomal dominant spastic paraplegia type 8 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) 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 Entire term case sensitive (core metadata concept) SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Autosomal dominant spastic paraplegia type 8 survenue (attribut) congénital false Inferred relationship Some 1
Autosomal dominant spastic paraplegia type 8 localisation d'une constatation (attribut) moelle spinale (structure corporelle) true Inferred relationship Some 1
Autosomal dominant spastic paraplegia type 8 morphologie associée (attribut) dégénérescence false Inferred relationship Some 1
Autosomal dominant spastic paraplegia type 8 est un(e) (attribut) Chronic paraplegia (disorder) false Inferred relationship Some
Autosomal dominant spastic paraplegia type 8 est un(e) (attribut) Autosomal dominant hereditary spastic paraplegia true Inferred relationship Some
Autosomal dominant spastic paraplegia type 8 évolution clinique (attribut) progressif true Inferred relationship Some 2
Autosomal dominant spastic paraplegia type 8 localisation d'une constatation (attribut) membre inférieur true Inferred relationship Some 3
Autosomal dominant spastic paraplegia type 8 morphologie associée (attribut) Degenerative abnormality true Inferred relationship Some 1

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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