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782887003: Inherited congenital spastic tetraplegia (disorder)


Status: current, Primitive. Date: 31-Jul 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3756558013 Inherited congenital spastic tetraplegia en Synonym Active Case insensitive SNOMED CT core
3756559017 Inherited congenital spastic quadriplegia en Synonym Active Case insensitive SNOMED CT core
3756560010 Inherited congenital spastic tetraplegia (disorder) en Fully specified name Active Case insensitive 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 Case sensitive 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 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 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 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

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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