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732948003: Autosomal dominant spastic paraplegia type 10 (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
3498419013 Autosomal dominant spastic paraplegia type 10 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3498420019 Autosomal dominant spastic paraplegia type 10 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5403647018 A rare, hereditary spastic paraplegia that can present as either a pure or complex phenotype. The pure form is characterized by lower limb spasticity, hyperreflexia and extensor plantar responses, presenting in childhood or adolescence. The complex form is characterized by the association with additional manifestations including peripheral neuropathy with upper limb muscle atrophy, moderate intellectual disability and parkinsonism. Deafness and retinitis pigmentosa have also been reported. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403648011 A rare, hereditary spastic paraplegia that can present as either a pure or complex phenotype. The pure form is characterised by lower limb spasticity, hyperreflexia and extensor plantar responses, presenting in childhood or adolescence. The complex form is characterised by the association with additional manifestations including peripheral neuropathy with upper limb muscle atrophy, moderate intellectual disability and parkinsonism. Deafness and retinitis pigmentosa have also been reported. 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 10 (disorder) Is a Autosomal dominant hereditary disorder false Inferred relationship Some
Autosomal dominant spastic paraplegia type 10 (disorder) Is a Hereditary spastic paraplegia false Inferred relationship Some
Autosomal dominant spastic paraplegia type 10 (disorder) Occurrence Congenital false Inferred relationship Some
Autosomal dominant spastic paraplegia type 10 (disorder) Finding site Lower limb structure false Inferred relationship Some
Autosomal dominant spastic paraplegia type 10 (disorder) Associated morphology Degeneration false Inferred relationship Some 3
Autosomal dominant spastic paraplegia type 10 (disorder) Finding site Spinal cord structure false Inferred relationship Some 3
Autosomal dominant spastic paraplegia type 10 (disorder) Finding site Cerebellar structure false Inferred relationship Some 3
Autosomal dominant spastic paraplegia type 10 (disorder) Associated morphology Degeneration false Inferred relationship Some 1
Autosomal dominant spastic paraplegia type 10 (disorder) Occurrence Congenital false Inferred relationship Some 1
Autosomal dominant spastic paraplegia type 10 (disorder) Finding site Spinal cord structure true Inferred relationship Some 1
Autosomal dominant spastic paraplegia type 10 (disorder) Is a Autosomal dominant hereditary spastic paraplegia true Inferred relationship Some
Autosomal dominant spastic paraplegia type 10 (disorder) Occurrence Congenital false Inferred relationship Some 2
Autosomal dominant spastic paraplegia type 10 (disorder) Finding site Lower limb structure false Inferred relationship Some 2
Autosomal dominant spastic paraplegia type 10 (disorder) Associated morphology Degenerative abnormality true Inferred relationship Some 1
Autosomal dominant spastic paraplegia type 10 (disorder) Clinical course Progressive (qualifier value) true Inferred relationship Some 3
Autosomal dominant spastic paraplegia type 10 (disorder) Interprets Movement true Inferred relationship Some 6
Autosomal dominant spastic paraplegia type 10 (disorder) Finding site Structure of right lower limb (body structure) true Inferred relationship Some 4
Autosomal dominant spastic paraplegia type 10 (disorder) Finding site Structure of left lower limb (body structure) true Inferred relationship Some 5
Autosomal dominant spastic paraplegia type 10 (disorder) Interprets Movement observable true Inferred relationship Some 2
Autosomal dominant spastic paraplegia type 10 (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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