763377006: Autosomal spastic paraplegia type 30 (disorder)

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

\Finding of back (finding)\Finding of spinal region\Disorder of spinal region (disorder)\Spinal cord disorder (disorder)\Hereditary spastic paraplegia\Autosomal spastic paraplegia type 30 (disorder)
\Finding of back (finding)\Finding of spinal region\Finding of spinal cord\Spinal cord disorder (disorder)\Hereditary spastic paraplegia\Autosomal spastic paraplegia type 30 (disorder)
\Finding of back (finding)\Disorder of back\Disorder of spinal region (disorder)\Spinal cord disorder (disorder)\Hereditary spastic paraplegia\Autosomal spastic paraplegia type 30 (disorder)

\Finding of limb structure\Disorder of extremity (disorder)\Disorder of lower extremity (disorder)\Paraplegia\Chronic paraplegia (disorder)\Hereditary spastic paraplegia\Autosomal spastic paraplegia type 30 (disorder)
\Finding of limb structure\Disorder of extremity (disorder)\Disorder of lower extremity (disorder)\Paraplegia\Spastic paraplegia\Hereditary spastic paraplegia\Autosomal spastic paraplegia type 30 (disorder)
\Finding of limb structure\Finding of lower limb\Disorder of lower extremity (disorder)\Paraplegia\Chronic paraplegia (disorder)\Hereditary spastic paraplegia\Autosomal spastic paraplegia type 30 (disorder)
\Finding of limb structure\Finding of lower limb\Disorder of lower extremity (disorder)\Paraplegia\Spastic paraplegia\Hereditary spastic paraplegia\Autosomal spastic paraplegia type 30 (disorder)

\Central nervous system finding\Finding of spinal cord\Spinal cord disorder (disorder)\Hereditary spastic paraplegia\Autosomal spastic paraplegia type 30 (disorder)
\Central nervous system finding\Disorder of the central nervous system (disorder)\Spastic syndrome (disorder)\Spastic paraplegia\Hereditary spastic paraplegia\Autosomal spastic paraplegia type 30 (disorder)
\Central nervous system finding\Disorder of the central nervous system (disorder)\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Hereditary spastic paraplegia\Autosomal spastic paraplegia type 30 (disorder)
\Central nervous system finding\Disorder of the central nervous system (disorder)\Spinal cord disorder (disorder)\Hereditary spastic paraplegia\Autosomal spastic paraplegia type 30 (disorder)

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Hereditary spastic paraplegia\Autosomal spastic paraplegia type 30 (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal spastic paraplegia type 30 (disorder)
\Disease\Degenerative disorder\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Hereditary spastic paraplegia\Autosomal spastic paraplegia type 30 (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Hereditary spastic paraplegia\Autosomal spastic paraplegia type 30 (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Hereditary spastic paraplegia\Autosomal spastic paraplegia type 30 (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Chronic nervous system disorder (disorder)\Chronic paraplegia (disorder)\Hereditary spastic paraplegia\Autosomal spastic paraplegia type 30 (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Paralytic syndrome\Paralytic syndrome of both lower limbs (disorder)\Paraplegia\Chronic paraplegia (disorder)\Hereditary spastic paraplegia\Autosomal spastic paraplegia type 30 (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Paralytic syndrome\Paralytic syndrome of both lower limbs (disorder)\Paraplegia\Spastic paraplegia\Hereditary spastic paraplegia\Autosomal spastic paraplegia type 30 (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Paralytic syndrome\Complete bilateral paralysis\Paraplegia\Chronic paraplegia (disorder)\Hereditary spastic paraplegia\Autosomal spastic paraplegia type 30 (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Paralytic syndrome\Complete bilateral paralysis\Paraplegia\Spastic paraplegia\Hereditary spastic paraplegia\Autosomal spastic paraplegia type 30 (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Spastic syndrome (disorder)\Spastic paraplegia\Hereditary spastic paraplegia\Autosomal spastic paraplegia type 30 (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Hereditary spastic paraplegia\Autosomal spastic paraplegia type 30 (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Spinal cord disorder (disorder)\Hereditary spastic paraplegia\Autosomal spastic paraplegia type 30 (disorder)
\Disease\Disorder of extremity (disorder)\Disorder of lower extremity (disorder)\Paraplegia\Chronic paraplegia (disorder)\Hereditary spastic paraplegia\Autosomal spastic paraplegia type 30 (disorder)
\Disease\Disorder of extremity (disorder)\Disorder of lower extremity (disorder)\Paraplegia\Spastic paraplegia\Hereditary spastic paraplegia\Autosomal spastic paraplegia type 30 (disorder)
\Disease\Disorder of back\Disorder of spinal region (disorder)\Spinal cord disorder (disorder)\Hereditary spastic paraplegia\Autosomal spastic paraplegia type 30 (disorder)
\Disease\Chronic disease\Chronic nervous system disorder (disorder)\Chronic paraplegia (disorder)\Hereditary spastic paraplegia\Autosomal spastic paraplegia type 30 (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3640269012 Autosomal spastic paraplegia type 30 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3640271012 Autosomal spastic paraplegia type 30 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3640270013 A form of hereditary spastic paraplegia presenting with either a pure spastic paraplegia phenotype, usually in the first or second decade of life, with spastic lower extremities, unsteady spastic gait, hyperreflexia and extensor plantar responses, or as a complicated phenotype with the additional manifestations of distal wasting, saccadic ocular movements, mild cerebellar ataxia and mild, distal, axonal neuropathy. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

4144231000052115 autosomal spastisk paraplegi, typ 30 sv Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Autosomal spastic paraplegia type 30 (disorder)	Is a	Autosomal hereditary disorder	true	Inferred relationship	Some
Autosomal spastic paraplegia type 30 (disorder)	Is a	Hereditary spastic paraplegia	true	Inferred relationship	Some
Autosomal spastic paraplegia type 30 (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	2
Autosomal spastic paraplegia type 30 (disorder)	Associated morphology	degeneration	false	Inferred relationship	Some	2
Autosomal spastic paraplegia type 30 (disorder)	Finding site	Spinal cord structure	false	Inferred relationship	Some	2
Autosomal spastic paraplegia type 30 (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	1
Autosomal spastic paraplegia type 30 (disorder)	Finding site	Lower limb structure	false	Inferred relationship	Some	1
Autosomal spastic paraplegia type 30 (disorder)	Associated morphology	Degenerative abnormality (morphologic abnormality)	false	Inferred relationship	Some	2
Autosomal spastic paraplegia type 30 (disorder)	Clinical course	Progressive (qualifier value)	true	Inferred relationship	Some	2
Autosomal spastic paraplegia type 30 (disorder)	Finding site	Lower limb structure	true	Inferred relationship	Some	3
Autosomal spastic paraplegia type 30 (disorder)	Finding site	Spinal cord structure	true	Inferred relationship	Some	1
Autosomal spastic paraplegia type 30 (disorder)	Associated morphology	Degenerative abnormality (morphologic abnormality)	true	Inferred relationship	Some	1

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
3640269012	Autosomal spastic paraplegia type 30 (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3640271012	Autosomal spastic paraplegia type 30	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3640270013	A form of hereditary spastic paraplegia presenting with either a pure spastic paraplegia phenotype, usually in the first or second decade of life, with spastic lower extremities, unsteady spastic gait, hyperreflexia and extensor plantar responses, or as a complicated phenotype with the additional manifestations of distal wasting, saccadic ocular movements, mild cerebellar ataxia and mild, distal, axonal neuropathy.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4144231000052115	autosomal spastisk paraplegi, typ 30	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)