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732933009: Autosomal recessive spastic paraplegia type 25 (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
3467558011 Autosomal recessive spastic paraplegia type 25 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3467559015 Autosomal recessive spastic paraplegia type 25 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3467560013 Autosomal recessive spastic paraplegia disc herniation syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5403645014 Autosomal recessive spastic paraplegia type 25 (SPG25) is a rare, complex type of hereditary spastic paraplegia characterized by adult-onset spastic paraplegia associated with spinal pain that radiates to the upper or lower limbs and is related to disc herniation (with minor spondylosis), as well as mild sensorimotor neuropathy. The SPG25 phenotype has been mapped to a locus on chromosome 6q23-q24.1. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403646010 Autosomal recessive spastic paraplegia type 25 (SPG25) is a rare, complex type of hereditary spastic paraplegia characterised by adult-onset spastic paraplegia associated with spinal pain that radiates to the upper or lower limbs and is related to disc herniation (with minor spondylosis), as well as mild sensorimotor neuropathy. The SPG25 phenotype has been mapped to a locus on chromosome 6q23-q24.1. 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 recessive spastic paraplegia type 25 (disorder) Is a Autosomal recessive hereditary disorder false Inferred relationship Some
Autosomal recessive spastic paraplegia type 25 (disorder) Is a Complicated hereditary spastic paraplegia true Inferred relationship Some
Autosomal recessive spastic paraplegia type 25 (disorder) Occurrence Congenital false Inferred relationship Some
Autosomal recessive spastic paraplegia type 25 (disorder) Finding site Lower limb structure false Inferred relationship Some
Autosomal recessive spastic paraplegia type 25 (disorder) Associated morphology Degeneration false Inferred relationship Some 3
Autosomal recessive spastic paraplegia type 25 (disorder) Finding site Spinal cord structure false Inferred relationship Some 3
Autosomal recessive spastic paraplegia type 25 (disorder) Finding site Cerebellar structure false Inferred relationship Some 3
Autosomal recessive spastic paraplegia type 25 (disorder) Associated morphology Degeneration false Inferred relationship Some 1
Autosomal recessive spastic paraplegia type 25 (disorder) Occurrence Congenital false Inferred relationship Some 1
Autosomal recessive spastic paraplegia type 25 (disorder) Finding site Spinal cord structure true Inferred relationship Some 1
Autosomal recessive spastic paraplegia type 25 (disorder) Occurrence Congenital false Inferred relationship Some 2
Autosomal recessive spastic paraplegia type 25 (disorder) Finding site Lower limb structure false Inferred relationship Some 2
Autosomal recessive spastic paraplegia type 25 (disorder) Associated morphology Degenerative abnormality true Inferred relationship Some 1
Autosomal recessive spastic paraplegia type 25 (disorder) Is a Autosomal recessive hereditary spastic paraplegia true Inferred relationship Some
Autosomal recessive spastic paraplegia type 25 (disorder) Clinical course Progressive (qualifier value) true Inferred relationship Some 3
Autosomal recessive spastic paraplegia type 25 (disorder) Interprets Movement true Inferred relationship Some 6
Autosomal recessive spastic paraplegia type 25 (disorder) Finding site Structure of right lower limb (body structure) true Inferred relationship Some 2
Autosomal recessive spastic paraplegia type 25 (disorder) Finding site Structure of left lower limb (body structure) true Inferred relationship Some 5
Autosomal recessive spastic paraplegia type 25 (disorder) Interprets Movement observable true Inferred relationship Some 4
Autosomal recessive spastic paraplegia type 25 (disorder) Has interpretation Absent true Inferred relationship Some 4

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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

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