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785305006: autosomaal dominante spastische paraplegie type 8 (aandoening)


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
8050611000146112 autosomaal dominante spastische paraplegie type 8 (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
8050621000146119 autosomaal dominante spastische paraplegie type 8 nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
8050971000146114 SPG8 nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
8735401000146118 autosomaal dominante spastische paraparese type 8 nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
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 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 degeneratie (afwijkende morfologie) false Inferred relationship Some 1
Autosomal dominant spastic paraplegia type 8 Is a Chronic paraplegia (disorder) 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 (qualifier value) true Inferred relationship Some 2
Autosomal dominant spastic paraplegia type 8 Finding site Lower limb structure 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 (body structure) true Inferred relationship Some 4
Autosomal dominant spastic paraplegia type 8 Finding site Structure of left lower limb (body structure) 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

This concept is not in any reference sets

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