782887003: Inherited congenital spastic tetraplegia (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\Finding of limb structure\Disorder of limb (disorder)\Spastic tetraplegia (disorder)\Inherited congenital spastic tetraplegia

\Finding of movement (finding)\Movement disorder\Paralytic syndrome\Paralytic syndrome of all four limbs (disorder)\Tetraplegia\Spastic tetraplegia (disorder)\Inherited congenital spastic tetraplegia
\Finding of movement (finding)\Movement disorder\Paralytic syndrome\Complete bilateral paralysis\Tetraplegia\Spastic tetraplegia (disorder)\Inherited congenital spastic tetraplegia
\Finding of movement (finding)\Motor dysfunction\Paralysis\Paralytic syndrome\Paralytic syndrome of all four limbs (disorder)\Tetraplegia\Spastic tetraplegia (disorder)\Inherited congenital spastic tetraplegia
\Finding of movement (finding)\Motor dysfunction\Paralysis\Paralytic syndrome\Complete bilateral paralysis\Tetraplegia\Spastic tetraplegia (disorder)\Inherited congenital spastic tetraplegia

\Central nervous system finding\Disorder of the central nervous system (disorder)\Spastic syndrome (disorder)\Spastic tetraplegia (disorder)\Inherited congenital spastic tetraplegia

\Neurological finding\Motor nervous system finding\Motor dysfunction\Paralysis\Paralytic syndrome\...

\Paralytic syndrome of all four limbs (disorder)\Tetraplegia\Spastic tetraplegia (disorder)\Inherited congenital spastic tetraplegia

\Complete bilateral paralysis\Tetraplegia\Spastic tetraplegia (disorder)\Inherited congenital spastic tetraplegia

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited congenital spastic tetraplegia
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited congenital spastic tetraplegia
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Paralytic syndrome of all four limbs (disorder)\Tetraplegia\Spastic tetraplegia (disorder)\Inherited congenital spastic tetraplegia
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Inherited congenital spastic tetraplegia
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Complete bilateral paralysis\Tetraplegia\Spastic tetraplegia (disorder)\Inherited congenital spastic tetraplegia
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Spastic syndrome (disorder)\Spastic tetraplegia (disorder)\Inherited congenital spastic tetraplegia
\Disease\Disorder of limb (disorder)\Spastic tetraplegia (disorder)\Inherited congenital spastic tetraplegia
\Disease\Congenital disease (disorder)\Inherited congenital spastic tetraplegia
\Disease\Movement disorder\Paralytic syndrome\Paralytic syndrome of all four limbs (disorder)\Tetraplegia\Spastic tetraplegia (disorder)\Inherited congenital spastic tetraplegia
\Disease\Movement disorder\Paralytic syndrome\Complete bilateral paralysis\Tetraplegia\Spastic tetraplegia (disorder)\Inherited congenital spastic tetraplegia

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

11371701000172114 tétraplégie spastique congénitale héréditaire fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

11371711000172112 quadriplégie spastique congénitale héréditaire fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

4796951000172116 erfelijke aangeboren spastische quadriplegie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

4796961000172119 hereditaire congenitale spastische tetraplegie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

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

Back to Start

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
11371701000172114	tétraplégie spastique congénitale héréditaire	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
11371711000172112	quadriplégie spastique congénitale héréditaire	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
4796951000172116	erfelijke aangeboren spastische quadriplegie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
4796961000172119	hereditaire congenitale spastische tetraplegie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)