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1156841003: X-linked complex 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
4577336012 X-linked complex hereditary spastic paraplegia en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
4577337015 X-linked complex hereditary spastic paraplegia (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core
7714711000241112 paraplégie spastique héréditaire complexe, 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 complex hereditary spastic paraplegia Occurrence Congenital false Inferred relationship Some 2
X-linked complex hereditary spastic paraplegia Is a X-linked hereditary disease false Inferred relationship Some
X-linked complex hereditary spastic paraplegia Finding site Body structure that includes the hip, thigh, leg, ankle and foot. false Inferred relationship Some 1
X-linked complex hereditary spastic paraplegia Is a Complicated hereditary spastic paraplegia true Inferred relationship Some
X-linked complex hereditary spastic paraplegia Associated morphology Degenerative abnormality false Inferred relationship Some 2
X-linked complex hereditary spastic paraplegia Occurrence Congenital false Inferred relationship Some 1
X-linked complex hereditary spastic paraplegia Finding site Spinal cord structure false Inferred relationship Some 2
X-linked complex hereditary spastic paraplegia Is a X-linked hereditary spastic paraplegia (disorder) true Inferred relationship Some
X-linked complex hereditary spastic paraplegia Clinical course Progressive true Inferred relationship Some 3
X-linked complex hereditary spastic paraplegia Finding site Body structure that includes the hip, thigh, leg, ankle and foot. false Inferred relationship Some 2
X-linked complex hereditary spastic paraplegia Finding site Spinal cord structure true Inferred relationship Some 1
X-linked complex hereditary spastic paraplegia Associated morphology Degenerative abnormality true Inferred relationship Some 1
X-linked complex hereditary spastic paraplegia Interprets mouvement false Inferred relationship Some 6
X-linked complex hereditary spastic paraplegia Finding site Structure of right lower limb (body structure) true Inferred relationship Some 2
X-linked complex hereditary spastic paraplegia Finding site Structure of left lower limb (body structure) true Inferred relationship Some 5
X-linked complex hereditary spastic paraplegia Interprets Movement observable true Inferred relationship Some 4
X-linked complex hereditary spastic paraplegia Has interpretation Absent true Inferred relationship Some 4

Inbound Relationships Type Active Source Characteristic Refinability Group
A complex, hereditary, spastic paraplegia characterized by delayed motor development, spasticity, and inability to walk, later progressing to quadriplegia, motor aphasia, bowel and bladder dysfunction. Patients also present with vision problems and mild intellectual disability. The disease affects only males. Is a True X-linked complex hereditary spastic paraplegia Inferred relationship Some

This concept is not in any reference sets

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