782727008: Autosomal spastic paraplegia type 72 (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\Pure hereditary spastic paraplegia\Autosomal spastic paraplegia type 72
\Finding of back (finding)\Finding of spinal region\Finding of spinal cord\Spinal cord disorder (disorder)\Hereditary spastic paraplegia\Pure hereditary spastic paraplegia\Autosomal spastic paraplegia type 72
\Finding of back (finding)\Disorder of back\Disorder of spinal region (disorder)\Spinal cord disorder (disorder)\Hereditary spastic paraplegia\Pure hereditary spastic paraplegia\Autosomal spastic paraplegia type 72

\Finding of limb structure\Disorder of extremity (disorder)\Disorder of lower extremity (disorder)\Paraplegia\Chronic paraplegia (disorder)\Hereditary spastic paraplegia\Pure hereditary spastic paraplegia\Autosomal spastic paraplegia type 72
\Finding of limb structure\Disorder of extremity (disorder)\Disorder of lower extremity (disorder)\Paraplegia\Spastic paraplegia\Hereditary spastic paraplegia\Pure hereditary spastic paraplegia\Autosomal spastic paraplegia type 72
\Finding of limb structure\Finding of lower limb\Disorder of lower extremity (disorder)\Paraplegia\Chronic paraplegia (disorder)\Hereditary spastic paraplegia\Pure hereditary spastic paraplegia\Autosomal spastic paraplegia type 72
\Finding of limb structure\Finding of lower limb\Disorder of lower extremity (disorder)\Paraplegia\Spastic paraplegia\Hereditary spastic paraplegia\Pure hereditary spastic paraplegia\Autosomal spastic paraplegia type 72

\Central nervous system finding\Finding of spinal cord\Spinal cord disorder (disorder)\Hereditary spastic paraplegia\Pure hereditary spastic paraplegia\Autosomal spastic paraplegia type 72
\Central nervous system finding\Disorder of the central nervous system (disorder)\Spastic syndrome (disorder)\Spastic paraplegia\Hereditary spastic paraplegia\Pure hereditary spastic paraplegia\Autosomal spastic paraplegia type 72
\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\Pure hereditary spastic paraplegia\Autosomal spastic paraplegia type 72
\Central nervous system finding\Disorder of the central nervous system (disorder)\Spinal cord disorder (disorder)\Hereditary spastic paraplegia\Pure hereditary spastic paraplegia\Autosomal spastic paraplegia type 72

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Hereditary spastic paraplegia\Pure hereditary spastic paraplegia\Autosomal spastic paraplegia type 72
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal spastic paraplegia type 72
\Disease\Degenerative disorder\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Hereditary spastic paraplegia\Pure hereditary spastic paraplegia\Autosomal spastic paraplegia type 72
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Hereditary spastic paraplegia\Pure hereditary spastic paraplegia\Autosomal spastic paraplegia type 72
\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\Pure hereditary spastic paraplegia\Autosomal spastic paraplegia type 72
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Chronic nervous system disorder (disorder)\Chronic paraplegia (disorder)\Hereditary spastic paraplegia\Pure hereditary spastic paraplegia\Autosomal spastic paraplegia type 72
\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\Pure hereditary spastic paraplegia\Autosomal spastic paraplegia type 72
\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\Pure hereditary spastic paraplegia\Autosomal spastic paraplegia type 72
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Paralytic syndrome\Complete bilateral paralysis\Paraplegia\Chronic paraplegia (disorder)\Hereditary spastic paraplegia\Pure hereditary spastic paraplegia\Autosomal spastic paraplegia type 72
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Paralytic syndrome\Complete bilateral paralysis\Paraplegia\Spastic paraplegia\Hereditary spastic paraplegia\Pure hereditary spastic paraplegia\Autosomal spastic paraplegia type 72
\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\Pure hereditary spastic paraplegia\Autosomal spastic paraplegia type 72
\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\Pure hereditary spastic paraplegia\Autosomal spastic paraplegia type 72
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Spinal cord disorder (disorder)\Hereditary spastic paraplegia\Pure hereditary spastic paraplegia\Autosomal spastic paraplegia type 72
\Disease\Disorder of extremity (disorder)\Disorder of lower extremity (disorder)\Paraplegia\Chronic paraplegia (disorder)\Hereditary spastic paraplegia\Pure hereditary spastic paraplegia\Autosomal spastic paraplegia type 72
\Disease\Disorder of extremity (disorder)\Disorder of lower extremity (disorder)\Paraplegia\Spastic paraplegia\Hereditary spastic paraplegia\Pure hereditary spastic paraplegia\Autosomal spastic paraplegia type 72
\Disease\Disorder of back\Disorder of spinal region (disorder)\Spinal cord disorder (disorder)\Hereditary spastic paraplegia\Pure hereditary spastic paraplegia\Autosomal spastic paraplegia type 72
\Disease\Chronic disease\Chronic nervous system disorder (disorder)\Chronic paraplegia (disorder)\Hereditary spastic paraplegia\Pure hereditary spastic paraplegia\Autosomal spastic paraplegia type 72

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

3755506013 Autosomal spastic paraplegia type 72 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3755507016 Autosomal spastic paraplegia type 72 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3755508014 Autosomal spastic paraplegia type 72 is a rare genetic pure hereditary spastic paraplegia disorder with characteristics of early childhood onset of slowly progressive crural spastic paraparesis presenting with spastic gait, mild stiffness at rest, hyperreflexia (in lower limbs), extensor plantar responses and in some mild postural tremor, pes cavus, sphincter disturbances and sensory loss at ankles. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

4355091000052116 autosomal spastisk paraplegi, typ 72 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 72	Occurrence	Congenital	false	Inferred relationship	Some	1
Autosomal spastic paraplegia type 72	Associated morphology	degeneration	false	Inferred relationship	Some	1
Autosomal spastic paraplegia type 72	Is a	Autosomal hereditary disorder	true	Inferred relationship	Some
Autosomal spastic paraplegia type 72	Is a	Pure hereditary spastic paraplegia	true	Inferred relationship	Some
Autosomal spastic paraplegia type 72	Finding site	Spinal cord structure	true	Inferred relationship	Some	1
Autosomal spastic paraplegia type 72	Finding site	Lower limb structure	true	Inferred relationship	Some	2
Autosomal spastic paraplegia type 72	Associated morphology	Degenerative abnormality (morphologic abnormality)	true	Inferred relationship	Some	1
Autosomal spastic paraplegia type 72	Clinical course	Progressive (qualifier value)	true	Inferred relationship	Some	3

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Description inactivation indicator reference set

GB English

US English

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3755506013	Autosomal spastic paraplegia type 72	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3755507016	Autosomal spastic paraplegia type 72 (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3755508014	Autosomal spastic paraplegia type 72 is a rare genetic pure hereditary spastic paraplegia disorder with characteristics of early childhood onset of slowly progressive crural spastic paraparesis presenting with spastic gait, mild stiffness at rest, hyperreflexia (in lower limbs), extensor plantar responses and in some mild postural tremor, pes cavus, sphincter disturbances and sensory loss at ankles.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4355091000052116	autosomal spastisk paraplegi, typ 72	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)