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732949006: Autosomal dominant spastic paraplegia type 6 (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3498421015 Autosomal dominant familial spastic paraplegia type 3 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3498422010 Autosomal dominant spastic paraplegia type 6 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3498423017 Autosomal dominant spastic paraplegia type 6 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5403649015 A rare, pure or complex form of hereditary spastic paraplegia typically characterized by presentation in late adolescence or early adulthood as a pure phenotype of lower limb spasticity with hyperreflexia and extensor plantar responses, as well as mild bladder disturbances and pes cavus. Rarely, it can present as a complex phenotype with additional manifestations including epilepsy, variable peripheral neuropathy and/or memory impairment. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403650015 A rare, pure or complex form of hereditary spastic paraplegia typically characterised by presentation in late adolescence or early adulthood as a pure phenotype of lower limb spasticity with hyperreflexia and extensor plantar responses, as well as mild bladder disturbances and pes cavus. Rarely, it can present as a complex phenotype with additional manifestations including epilepsy, variable peripheral neuropathy and/or memory impairment. 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 6 (disorder) Is a Autosomal dominant hereditary disorder false Inferred relationship Some
Autosomal dominant spastic paraplegia type 6 (disorder) Is a Hereditary spastic paraplegia false Inferred relationship Some
Autosomal dominant spastic paraplegia type 6 (disorder) Occurrence Congenital false Inferred relationship Some
Autosomal dominant spastic paraplegia type 6 (disorder) Finding site Lower limb structure false Inferred relationship Some
Autosomal dominant spastic paraplegia type 6 (disorder) Associated morphology Degeneration false Inferred relationship Some 3
Autosomal dominant spastic paraplegia type 6 (disorder) Finding site Spinal cord structure false Inferred relationship Some 3
Autosomal dominant spastic paraplegia type 6 (disorder) Finding site Cerebellar structure false Inferred relationship Some 3
Autosomal dominant spastic paraplegia type 6 (disorder) Associated morphology Degeneration false Inferred relationship Some 1
Autosomal dominant spastic paraplegia type 6 (disorder) Occurrence Congenital false Inferred relationship Some 1
Autosomal dominant spastic paraplegia type 6 (disorder) Finding site Spinal cord structure true Inferred relationship Some 1
Autosomal dominant spastic paraplegia type 6 (disorder) Is a Autosomal dominant hereditary spastic paraplegia true Inferred relationship Some
Autosomal dominant spastic paraplegia type 6 (disorder) Occurrence Congenital false Inferred relationship Some 2
Autosomal dominant spastic paraplegia type 6 (disorder) Finding site Lower limb structure false Inferred relationship Some 2
Autosomal dominant spastic paraplegia type 6 (disorder) Associated morphology Degenerative abnormality true Inferred relationship Some 1
Autosomal dominant spastic paraplegia type 6 (disorder) Clinical course Progressive (qualifier value) true Inferred relationship Some 3
Autosomal dominant spastic paraplegia type 6 (disorder) Interprets Movement true Inferred relationship Some 6
Autosomal dominant spastic paraplegia type 6 (disorder) Finding site Structure of right lower limb (body structure) true Inferred relationship Some 4
Autosomal dominant spastic paraplegia type 6 (disorder) Finding site Structure of left lower limb (body structure) true Inferred relationship Some 5
Autosomal dominant spastic paraplegia type 6 (disorder) Interprets Movement observable true Inferred relationship Some 2
Autosomal dominant spastic paraplegia type 6 (disorder) Has interpretation Absent true Inferred relationship Some 2

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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