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1156842005: X-linked pure hereditary spastic paraplegia (disorder)


Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2021. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
4577338013 X-linked pure hereditary spastic paraplegia en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
4577339017 X-linked pure hereditary spastic paraplegia (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core
7714731000241115 paraplégie spastique héréditaire pure liée à l'X fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module


1 descendants. Search Descendants:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
X-linked pure hereditary spastic paraplegia Is a X-linked hereditary disease false Inferred relationship Some
X-linked pure hereditary spastic paraplegia Finding site Spinal cord structure true Inferred relationship Some 1
X-linked pure hereditary spastic paraplegia Occurrence Congenital false Inferred relationship Some 2
X-linked pure hereditary spastic paraplegia Associated morphology Degenerative abnormality true Inferred relationship Some 1
X-linked pure hereditary spastic paraplegia Finding site Body structure that includes the hip, thigh, leg, ankle and foot. false Inferred relationship Some 2
X-linked pure hereditary spastic paraplegia Is a Pure hereditary spastic paraplegia true Inferred relationship Some
X-linked pure hereditary spastic paraplegia Occurrence Congenital false Inferred relationship Some 1
X-linked pure hereditary spastic paraplegia Is a X-linked hereditary spastic paraplegia (disorder) true Inferred relationship Some
X-linked pure hereditary spastic paraplegia Clinical course Progressive true Inferred relationship Some 3
X-linked pure hereditary spastic paraplegia Interprets mouvement false Inferred relationship Some 6
X-linked pure hereditary spastic paraplegia Finding site Structure of right lower limb (body structure) true Inferred relationship Some 4
X-linked pure hereditary spastic paraplegia Finding site Structure of left lower limb (body structure) true Inferred relationship Some 5
X-linked pure hereditary spastic paraplegia Interprets Movement observable true Inferred relationship Some 2
X-linked pure hereditary spastic paraplegia Has interpretation Absent true Inferred relationship Some 2

Inbound Relationships Type Active Source Characteristic Refinability Group
X-linked spastic paraplegia type 34 is a pure form of hereditary spastic paraplegia characterized by late childhood- to early adulthood-onset of slowly progressive spastic paraplegia with spastic gait and lower limb hyperreflexia, brisk tendon reflexes and ankle clonus. Lower limb pain and reduced lower limb vibratory sense is also reported in some older adult patients. Is a True X-linked pure hereditary spastic paraplegia Inferred relationship Some

This concept is not in any reference sets

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