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782887003: Inherited congenital spastic tetraplegia (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3756558013 Inherited congenital spastic tetraplegia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3756559017 Inherited congenital spastic quadriplegia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3756560010 Inherited congenital spastic tetraplegia (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3756561014 A rare genetic neurological disease with characteristics of non-progressive, variable spastic quadriparesis in multiple members of a family, in the absence of additional factors complicating pregnancy or birth (for example 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. 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
Inherited congenital spastic tetraplegia Is a Spastic tetraplegia (disorder) true Inferred relationship Some
Inherited congenital spastic tetraplegia Occurrence Congenital true Inferred relationship Some 2
Inherited congenital spastic tetraplegia Is a Hereditary disorder of nervous system true Inferred relationship Some
Inherited congenital spastic tetraplegia Is a Congenital disease (disorder) true Inferred relationship Some
Inherited congenital spastic tetraplegia Occurrence Congenital true Inferred relationship Some 1
Inherited congenital spastic tetraplegia Finding site Limb structure true Inferred relationship Some 2
Inherited congenital spastic tetraplegia Finding site Structure of central nervous system (body structure) true Inferred relationship Some 1
Inherited congenital spastic tetraplegia Interprets Movement true Inferred relationship Some 4
Inherited congenital spastic tetraplegia Interprets Movement observable true Inferred relationship Some 3
Inherited congenital spastic tetraplegia Has interpretation Absent true Inferred relationship Some 3

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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