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192965001: Spastic tetraplegia (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
297242010 Spastic tetraplegia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
576802016 Spastic tetraplegia (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
2967583017 Spastic quadriplegia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
830471000241114 tétraplégie spastique fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module


5 descendants. Search Descendants:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Spastic tetraplegia Is a Tetraplegia true Inferred relationship Some
Spastic tetraplegia Finding site Structure of nervous system (body structure) false Inferred relationship Some
Spastic tetraplegia Finding site Limb structure true Inferred relationship Some 1
Spastic tetraplegia Is a Disorder of limb (disorder) true Inferred relationship Some
Spastic tetraplegia Finding site Structure of central nervous system (body structure) true Inferred relationship Some 2
Spastic tetraplegia Is a Spastic syndrome (disorder) true Inferred relationship Some
Spastic tetraplegia Interprets mouvement false Inferred relationship Some 4
Spastic tetraplegia Interprets Movement observable true Inferred relationship Some 3
Spastic tetraplegia Has interpretation Absent true Inferred relationship Some 3

Inbound Relationships Type Active Source Characteristic Refinability Group
Quadriplegic spastic cerebral palsy Is a False Spastic tetraplegia Inferred relationship Some
A rare, genetic, syndromic intellectual disability disorder characterized by the association of nonprogressive spastic quadriparesis, retinitis pigmentosa, intellectual disability, and variable deafness. There have been no further descriptions in the literature since 1976. Is a True Spastic tetraplegia Inferred relationship Some
Inherited congenital spastic tetraplegia is a rare, genetic, neurological disease characterized by non-progressive, variable spastic quadriparesis in multiple members of a family, in the absence of additional factors complicating pregnancy or birth (e.g. perinatal asphyxia, congenital infection). Additional clinical features include congenital hypotonia, intellectual disability, and developmental delay. Dysphagia, dysarthria, exotropia, nystagmus, seizures and brain atrophy with ventriculomegaly may be also present. Is a True Spastic tetraplegia Inferred relationship Some
A rare autosomal ichthyosis syndrome with prominent neurologic signs characterized by the association of congenital ichthyosis with severe developmental delay, microcephaly, spastic tetraplegia, sensorineural hearing impairment, athetosis, and myoclonus. Marked epileptic discharges with occurrence of tonic spasms have also been reported. Cerebral MRI shows diffuse cortical atrophy. There have been no further descriptions in the literature since 1995. Is a True Spastic tetraplegia Inferred relationship Some
A rare autosomal ichthyosis syndrome with prominent neurologic signs characterized by the association of congenital ichthyosis with global developmental delay, intellectual disability, infantile-onset seizures, and spastic tetraplegia. Brain imaging may show delayed myelination and cerebral atrophy. Marked intrafamilial variability has been reported. Is a True Spastic tetraplegia Inferred relationship Some
A rare leukodystrophy characterized by a spectrum of progressive neurologic manifestations comprising rapidly progressive early-onset nystagmus, spastic tetraplegia, and visual and hearing impairment, resulting in death in early childhood, as well as later onset of slowly progressive complex spastic ataxia with pyramidal and cerebellar symptoms and loss of developmental milestones. Brain imaging shows diffuse hypomyelination of the subcortical and deep white matter, cerebellar atrophy, and diffuse spinal cord volume loss. Is a True Spastic tetraplegia Inferred relationship Some

This concept is not in any reference sets

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