782726004: Autosomal recessive spastic paraplegia type 71 (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 recessive hereditary spastic paraplegia\Autosomal recessive spastic paraplegia type 71
\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 recessive spastic paraplegia type 71
\Finding of back (finding)\Finding of spinal region\Finding of spinal cord\Spinal cord disorder (disorder)\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\Autosomal recessive spastic paraplegia type 71
\Finding of back (finding)\Finding of spinal region\Finding of spinal cord\Spinal cord disorder (disorder)\Hereditary spastic paraplegia\Pure hereditary spastic paraplegia\Autosomal recessive spastic paraplegia type 71
\Finding of back (finding)\Disorder of back\Disorder of spinal region (disorder)\Spinal cord disorder (disorder)\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\Autosomal recessive spastic paraplegia type 71
\Finding of back (finding)\Disorder of back\Disorder of spinal region (disorder)\Spinal cord disorder (disorder)\Hereditary spastic paraplegia\Pure hereditary spastic paraplegia\Autosomal recessive spastic paraplegia type 71

\Finding of limb structure\Disorder of extremity (disorder)\Disorder of lower extremity (disorder)\Paraplegia\Chronic paraplegia (disorder)\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\Autosomal recessive spastic paraplegia type 71
\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 recessive spastic paraplegia type 71
\Finding of limb structure\Disorder of extremity (disorder)\Disorder of lower extremity (disorder)\Paraplegia\Spastic paraplegia\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\Autosomal recessive spastic paraplegia type 71
\Finding of limb structure\Disorder of extremity (disorder)\Disorder of lower extremity (disorder)\Paraplegia\Spastic paraplegia\Hereditary spastic paraplegia\Pure hereditary spastic paraplegia\Autosomal recessive spastic paraplegia type 71
\Finding of limb structure\Finding of lower limb\Disorder of lower extremity (disorder)\Paraplegia\Chronic paraplegia (disorder)\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\Autosomal recessive spastic paraplegia type 71
\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 recessive spastic paraplegia type 71
\Finding of limb structure\Finding of lower limb\Disorder of lower extremity (disorder)\Paraplegia\Spastic paraplegia\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\Autosomal recessive spastic paraplegia type 71
\Finding of limb structure\Finding of lower limb\Disorder of lower extremity (disorder)\Paraplegia\Spastic paraplegia\Hereditary spastic paraplegia\Pure hereditary spastic paraplegia\Autosomal recessive spastic paraplegia type 71

\Central nervous system finding\Finding of spinal cord\Spinal cord disorder (disorder)\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\Autosomal recessive spastic paraplegia type 71
\Central nervous system finding\Finding of spinal cord\Spinal cord disorder (disorder)\Hereditary spastic paraplegia\Pure hereditary spastic paraplegia\Autosomal recessive spastic paraplegia type 71
\Central nervous system finding\Disorder of the central nervous system (disorder)\Spastic syndrome (disorder)\Spastic paraplegia\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\Autosomal recessive spastic paraplegia type 71
\Central nervous system finding\Disorder of the central nervous system (disorder)\Spastic syndrome (disorder)\Spastic paraplegia\Hereditary spastic paraplegia\Pure hereditary spastic paraplegia\Autosomal recessive spastic paraplegia type 71
\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 recessive hereditary spastic paraplegia\Autosomal recessive spastic paraplegia type 71
\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 recessive spastic paraplegia type 71
\Central nervous system finding\Disorder of the central nervous system (disorder)\Spinal cord disorder (disorder)\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\Autosomal recessive spastic paraplegia type 71
\Central nervous system finding\Disorder of the central nervous system (disorder)\Spinal cord disorder (disorder)\Hereditary spastic paraplegia\Pure hereditary spastic paraplegia\Autosomal recessive spastic paraplegia type 71

\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 recessive hereditary spastic paraplegia\Autosomal recessive spastic paraplegia type 71
\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 recessive spastic paraplegia type 71
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Autosomal recessive hereditary spastic paraplegia\Autosomal recessive spastic paraplegia type 71
\Disease\Degenerative disorder\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\Autosomal recessive spastic paraplegia type 71
\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 recessive spastic paraplegia type 71
\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 recessive hereditary spastic paraplegia\Autosomal recessive spastic paraplegia type 71
\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 recessive spastic paraplegia type 71
\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 recessive hereditary spastic paraplegia\Autosomal recessive spastic paraplegia type 71
\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 recessive spastic paraplegia type 71
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Chronic nervous system disorder (disorder)\Chronic paraplegia (disorder)\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\Autosomal recessive spastic paraplegia type 71
\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 recessive spastic paraplegia type 71
\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 recessive hereditary spastic paraplegia\Autosomal recessive spastic paraplegia type 71
\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 recessive spastic paraplegia type 71
\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 recessive hereditary spastic paraplegia\Autosomal recessive spastic paraplegia type 71
\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 recessive spastic paraplegia type 71
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Paralytic syndrome\Complete bilateral paralysis\Paraplegia\Chronic paraplegia (disorder)\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\Autosomal recessive spastic paraplegia type 71
\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 recessive spastic paraplegia type 71
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Paralytic syndrome\Complete bilateral paralysis\Paraplegia\Spastic paraplegia\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\Autosomal recessive spastic paraplegia type 71
\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 recessive spastic paraplegia type 71
\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 recessive hereditary spastic paraplegia\Autosomal recessive spastic paraplegia type 71
\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 recessive spastic paraplegia type 71
\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 recessive hereditary spastic paraplegia\Autosomal recessive spastic paraplegia type 71
\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 recessive spastic paraplegia type 71
\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 recessive hereditary spastic paraplegia\Autosomal recessive spastic paraplegia type 71
\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 recessive spastic paraplegia type 71
\Disease\Disorder of extremity (disorder)\Disorder of lower extremity (disorder)\Paraplegia\Chronic paraplegia (disorder)\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\Autosomal recessive spastic paraplegia type 71
\Disease\Disorder of extremity (disorder)\Disorder of lower extremity (disorder)\Paraplegia\Chronic paraplegia (disorder)\Hereditary spastic paraplegia\Pure hereditary spastic paraplegia\Autosomal recessive spastic paraplegia type 71
\Disease\Disorder of extremity (disorder)\Disorder of lower extremity (disorder)\Paraplegia\Spastic paraplegia\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\Autosomal recessive spastic paraplegia type 71
\Disease\Disorder of extremity (disorder)\Disorder of lower extremity (disorder)\Paraplegia\Spastic paraplegia\Hereditary spastic paraplegia\Pure hereditary spastic paraplegia\Autosomal recessive spastic paraplegia type 71
\Disease\Disorder of back\Disorder of spinal region (disorder)\Spinal cord disorder (disorder)\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\Autosomal recessive spastic paraplegia type 71
\Disease\Disorder of back\Disorder of spinal region (disorder)\Spinal cord disorder (disorder)\Hereditary spastic paraplegia\Pure hereditary spastic paraplegia\Autosomal recessive spastic paraplegia type 71
\Disease\Chronic disease\Chronic nervous system disorder (disorder)\Chronic paraplegia (disorder)\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\Autosomal recessive spastic paraplegia type 71
\Disease\Chronic disease\Chronic nervous system disorder (disorder)\Chronic paraplegia (disorder)\Hereditary spastic paraplegia\Pure hereditary spastic paraplegia\Autosomal recessive spastic paraplegia type 71

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

3755503017 Autosomal recessive spastic paraplegia type 71 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3755504011 Autosomal recessive spastic paraplegia type 71 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3755505012 Autosomal recessive spastic paraplegia type 71 is a rare genetic pure hereditary spastic paraplegia disorder with characteristics of infancy onset of crural spastic paraparesis with scissors gait, extensor plantar response and increased tendon reflexes. Neuroimaging reveals a thin corpus callosum and electromyography and nerve conduction velocity studies are normal. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

4342621000052118 autosomalt recessiv spastisk paraplegi, typ 71 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 recessive spastic paraplegia type 71	Is a	Autosomal recessive hereditary disorder	false	Inferred relationship	Some
Autosomal recessive spastic paraplegia type 71	Occurrence	Congenital	false	Inferred relationship	Some	1
Autosomal recessive spastic paraplegia type 71	Finding site	Spinal cord structure	true	Inferred relationship	Some	1
Autosomal recessive spastic paraplegia type 71	Associated morphology	degeneration	false	Inferred relationship	Some	1
Autosomal recessive spastic paraplegia type 71	Is a	Pure hereditary spastic paraplegia	true	Inferred relationship	Some
Autosomal recessive spastic paraplegia type 71	Finding site	Lower limb structure	true	Inferred relationship	Some	2
Autosomal recessive spastic paraplegia type 71	Associated morphology	Degenerative abnormality (morphologic abnormality)	true	Inferred relationship	Some	1
Autosomal recessive spastic paraplegia type 71	Is a	Autosomal recessive hereditary spastic paraplegia	true	Inferred relationship	Some
Autosomal recessive spastic paraplegia type 71	Clinical course	Progressive (qualifier value)	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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Id	Description	Lang	Type	Status	Case?	Module
3755503017	Autosomal recessive spastic paraplegia type 71	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3755504011	Autosomal recessive spastic paraplegia type 71 (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3755505012	Autosomal recessive spastic paraplegia type 71 is a rare genetic pure hereditary spastic paraplegia disorder with characteristics of infancy onset of crural spastic paraparesis with scissors gait, extensor plantar response and increased tendon reflexes. Neuroimaging reveals a thin corpus callosum and electromyography and nerve conduction velocity studies are normal.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4342621000052118	autosomalt recessiv spastisk paraplegi, typ 71	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)