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724775006: X-linked hereditary spastic paraplegia (disorder)


Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2022. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3449522015 X-linked hereditary spastic paraplegia (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core
3449523013 X-linked hereditary spastic paraplegia en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
7613961000241119 paraplégie spastique héréditaire liée à l'X fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module


6 descendants. Search Descendants:

Expanded Value Set


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

Inbound Relationships Type Active Source Characteristic Refinability Group
A rare, X-linked leukodystrophy characterized primarily by spastic gait and autonomic dysfunction. When additional central nervous system (CNS) signs, such as intellectual deficit, ataxia, or extrapyramidal signs, are present, the syndrome is referred to as complicated SPG. Is a True X-linked hereditary spastic paraplegia (disorder) Inferred relationship Some
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 False X-linked hereditary spastic paraplegia (disorder) Inferred relationship Some
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 False X-linked hereditary spastic paraplegia (disorder) Inferred relationship Some
Allan-Herndon-Dudley syndrome Is a True X-linked hereditary spastic paraplegia (disorder) Inferred relationship Some
X-linked complex hereditary spastic paraplegia Is a True X-linked hereditary spastic paraplegia (disorder) Inferred relationship Some
X-linked pure hereditary spastic paraplegia Is a True X-linked hereditary spastic paraplegia (disorder) Inferred relationship Some

This concept is not in any reference sets

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