789674008: Spastic paraplegia, optic atrophy, neuropathy and spastic paraplegia, optic atrophy neuropathy-related disorder (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\SPOAN and SPOAN-related disorder
\Finding of back (finding)\Finding of spinal region\Disorder of spinal region (disorder)\Spinal cord disorder (disorder)\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\SPOAN and SPOAN-related disorder
\Finding of back (finding)\Finding of spinal region\Finding of spinal cord\Spinal cord disorder (disorder)\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\SPOAN and SPOAN-related disorder
\Finding of back (finding)\Finding of spinal region\Finding of spinal cord\Spinal cord disorder (disorder)\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\SPOAN and SPOAN-related disorder
\Finding of back (finding)\Disorder of back\Disorder of spinal region (disorder)\Spinal cord disorder (disorder)\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\SPOAN and SPOAN-related disorder
\Finding of back (finding)\Disorder of back\Disorder of spinal region (disorder)\Spinal cord disorder (disorder)\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\SPOAN and SPOAN-related disorder

\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\SPOAN and SPOAN-related disorder
\Finding of limb structure\Disorder of extremity (disorder)\Disorder of lower extremity (disorder)\Paraplegia\Chronic paraplegia (disorder)\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\SPOAN and SPOAN-related disorder
\Finding of limb structure\Disorder of extremity (disorder)\Disorder of lower extremity (disorder)\Paraplegia\Spastic paraplegia\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\SPOAN and SPOAN-related disorder
\Finding of limb structure\Disorder of extremity (disorder)\Disorder of lower extremity (disorder)\Paraplegia\Spastic paraplegia\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\SPOAN and SPOAN-related disorder
\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\SPOAN and SPOAN-related disorder
\Finding of limb structure\Finding of lower limb\Disorder of lower extremity (disorder)\Paraplegia\Chronic paraplegia (disorder)\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\SPOAN and SPOAN-related disorder
\Finding of limb structure\Finding of lower limb\Disorder of lower extremity (disorder)\Paraplegia\Spastic paraplegia\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\SPOAN and SPOAN-related disorder
\Finding of limb structure\Finding of lower limb\Disorder of lower extremity (disorder)\Paraplegia\Spastic paraplegia\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\SPOAN and SPOAN-related disorder

\Central nervous system finding\Finding of spinal cord\Spinal cord disorder (disorder)\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\SPOAN and SPOAN-related disorder
\Central nervous system finding\Finding of spinal cord\Spinal cord disorder (disorder)\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\SPOAN and SPOAN-related disorder
\Central nervous system finding\Disorder of the central nervous system (disorder)\Spastic syndrome (disorder)\Spastic paraplegia\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\SPOAN and SPOAN-related disorder
\Central nervous system finding\Disorder of the central nervous system (disorder)\Spastic syndrome (disorder)\Spastic paraplegia\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\SPOAN and SPOAN-related 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 recessive hereditary spastic paraplegia\SPOAN and SPOAN-related 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\Complicated hereditary spastic paraplegia\SPOAN and SPOAN-related 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 optic atrophy\SPOAN and SPOAN-related disorder
\Central nervous system finding\Disorder of the central nervous system (disorder)\Degenerative disease of the central nervous system\Optic atrophy\Primary optic atrophy\Hereditary optic atrophy\SPOAN and SPOAN-related disorder
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of visual pathways\Disorder of optic nerve\Inherited optic neuropathy\Hereditary optic atrophy\SPOAN and SPOAN-related disorder
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of visual pathways\Disorder of optic nerve\Optic atrophy\Primary optic atrophy\Hereditary optic atrophy\SPOAN and SPOAN-related disorder
\Central nervous system finding\Disorder of the central nervous system (disorder)\Spinal cord disorder (disorder)\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\SPOAN and SPOAN-related disorder
\Central nervous system finding\Disorder of the central nervous system (disorder)\Spinal cord disorder (disorder)\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\SPOAN and SPOAN-related disorder

\Eye / vision finding\Visual system disorder\...

\Hereditary disorder of the visual system (disorder)\Inherited optic neuropathy\Hereditary optic atrophy\SPOAN and SPOAN-related disorder

\Disorder of visual pathways\Disorder of optic nerve\...

\Inherited optic neuropathy\Hereditary optic atrophy\SPOAN and SPOAN-related disorder

\Optic atrophy\Primary optic atrophy\Hereditary optic atrophy\SPOAN and SPOAN-related disorder

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the visual system (disorder)\Inherited optic neuropathy\Hereditary optic atrophy\SPOAN and SPOAN-related disorder
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited optic neuropathy\Hereditary optic atrophy\SPOAN and SPOAN-related 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 recessive hereditary spastic paraplegia\SPOAN and SPOAN-related 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\Complicated hereditary spastic paraplegia\SPOAN and SPOAN-related disorder
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Hereditary optic atrophy\SPOAN and SPOAN-related disorder
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Autosomal recessive hereditary spastic paraplegia\SPOAN and SPOAN-related disorder
\Disease\Degenerative disorder\Atrophy (disorder)\Optic atrophy\Primary optic atrophy\Hereditary optic atrophy\SPOAN and SPOAN-related disorder
\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\SPOAN and SPOAN-related disorder
\Disease\Degenerative disorder\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\SPOAN and SPOAN-related disorder
\Disease\Degenerative disorder\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Hereditary optic atrophy\SPOAN and SPOAN-related disorder
\Disease\Degenerative disorder\Degenerative disease of the central nervous system\Optic atrophy\Primary optic atrophy\Hereditary optic atrophy\SPOAN and SPOAN-related disorder
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the visual system (disorder)\Inherited optic neuropathy\Hereditary optic atrophy\SPOAN and SPOAN-related disorder
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited optic neuropathy\Hereditary optic atrophy\SPOAN and SPOAN-related 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 recessive hereditary spastic paraplegia\SPOAN and SPOAN-related 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\Complicated hereditary spastic paraplegia\SPOAN and SPOAN-related disorder
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Hereditary optic atrophy\SPOAN and SPOAN-related disorder
\Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system (disorder)\Inherited optic neuropathy\Hereditary optic atrophy\SPOAN and SPOAN-related disorder
\Disease\Disorder of body system\Visual system disorder\Disorder of visual pathways\Disorder of optic nerve\Inherited optic neuropathy\Hereditary optic atrophy\SPOAN and SPOAN-related disorder
\Disease\Disorder of body system\Visual system disorder\Disorder of visual pathways\Disorder of optic nerve\Optic atrophy\Primary optic atrophy\Hereditary optic atrophy\SPOAN and SPOAN-related disorder
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Neuropathy (disorder)\Cranial nerve disorder\Disorder of optic nerve\Inherited optic neuropathy\Hereditary optic atrophy\SPOAN and SPOAN-related disorder
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Neuropathy (disorder)\Cranial nerve disorder\Disorder of optic nerve\Optic atrophy\Primary optic atrophy\Hereditary optic atrophy\SPOAN and SPOAN-related disorder
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Inherited optic neuropathy\Hereditary optic atrophy\SPOAN and SPOAN-related 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 recessive hereditary spastic paraplegia\SPOAN and SPOAN-related 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\Complicated hereditary spastic paraplegia\SPOAN and SPOAN-related disorder
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Hereditary optic atrophy\SPOAN and SPOAN-related disorder
\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\SPOAN and SPOAN-related disorder
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Chronic nervous system disorder (disorder)\Chronic paraplegia (disorder)\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\SPOAN and SPOAN-related 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 recessive hereditary spastic paraplegia\SPOAN and SPOAN-related 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\Complicated hereditary spastic paraplegia\SPOAN and SPOAN-related 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 recessive hereditary spastic paraplegia\SPOAN and SPOAN-related 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\Complicated hereditary spastic paraplegia\SPOAN and SPOAN-related disorder
\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\SPOAN and SPOAN-related disorder
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Paralytic syndrome\Complete bilateral paralysis\Paraplegia\Chronic paraplegia (disorder)\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\SPOAN and SPOAN-related disorder
\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\SPOAN and SPOAN-related disorder
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Paralytic syndrome\Complete bilateral paralysis\Paraplegia\Spastic paraplegia\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\SPOAN and SPOAN-related 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 recessive hereditary spastic paraplegia\SPOAN and SPOAN-related 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\Complicated hereditary spastic paraplegia\SPOAN and SPOAN-related 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 recessive hereditary spastic paraplegia\SPOAN and SPOAN-related 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\Complicated hereditary spastic paraplegia\SPOAN and SPOAN-related 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 optic atrophy\SPOAN and SPOAN-related 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\Optic atrophy\Primary optic atrophy\Hereditary optic atrophy\SPOAN and SPOAN-related disorder
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of visual pathways\Disorder of optic nerve\Inherited optic neuropathy\Hereditary optic atrophy\SPOAN and SPOAN-related disorder
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of visual pathways\Disorder of optic nerve\Optic atrophy\Primary optic atrophy\Hereditary optic atrophy\SPOAN and SPOAN-related 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 recessive hereditary spastic paraplegia\SPOAN and SPOAN-related 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\Complicated hereditary spastic paraplegia\SPOAN and SPOAN-related disorder
\Disease\Disorder of extremity (disorder)\Disorder of lower extremity (disorder)\Paraplegia\Chronic paraplegia (disorder)\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\SPOAN and SPOAN-related disorder
\Disease\Disorder of extremity (disorder)\Disorder of lower extremity (disorder)\Paraplegia\Chronic paraplegia (disorder)\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\SPOAN and SPOAN-related disorder
\Disease\Disorder of extremity (disorder)\Disorder of lower extremity (disorder)\Paraplegia\Spastic paraplegia\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\SPOAN and SPOAN-related disorder
\Disease\Disorder of extremity (disorder)\Disorder of lower extremity (disorder)\Paraplegia\Spastic paraplegia\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\SPOAN and SPOAN-related disorder
\Disease\Disorder of back\Disorder of spinal region (disorder)\Spinal cord disorder (disorder)\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\SPOAN and SPOAN-related disorder
\Disease\Disorder of back\Disorder of spinal region (disorder)\Spinal cord disorder (disorder)\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\SPOAN and SPOAN-related disorder
\Disease\Chronic disease\Chronic nervous system disorder (disorder)\Chronic paraplegia (disorder)\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\SPOAN and SPOAN-related disorder
\Disease\Chronic disease\Chronic nervous system disorder (disorder)\Chronic paraplegia (disorder)\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\SPOAN and SPOAN-related disorder

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2020. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3791513010 SPOAN and SPOAN-related disorder en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

3791514016 Spastic paraplegia, optic atrophy, neuropathy and spastic paraplegia, optic atrophy neuropathy-related disorder en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3791515015 Spastic paraplegia, optic atrophy, neuropathy and spastic paraplegia, optic atrophy neuropathy-related disorder (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3791516019 A group of rare genetic neurodegenerative diseases with characteristics of infancy to childhood onset of progressive spastic paraplegia (with delayed motor milestones, gait disturbances, hyperreflexia and extensor plantar responses), optic atrophy (which may be accompanied by nystagmus and visual loss) and progressive peripheral neuropathy (with sensory impairment and distal muscle weakness/atrophy in upper and lower extremities). Additional signs may include foot deformities, spinal defects (scoliosis, kyphosis), joint contractures, exaggerated startle response, speech disorders, hyperhidrosis, extrapyramidal signs and intellectual disability. In very rare cases, a variant phenotype with less prominent or absent optic atrophy and/or neuropathy may be observed. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

4473681000052118 SPOAN och SPOAN-relaterad sjukdom sv Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
SPOAN and SPOAN-related disorder	Occurrence	Congenital	false	Inferred relationship	Some	3
SPOAN and SPOAN-related disorder	Finding site	Spinal cord structure	true	Inferred relationship	Some	1
SPOAN and SPOAN-related disorder	Finding site	Optic nerve structure	true	Inferred relationship	Some	2
SPOAN and SPOAN-related disorder	Occurrence	Congenital	false	Inferred relationship	Some	1
SPOAN and SPOAN-related disorder	Occurrence	Congenital	false	Inferred relationship	Some	2
SPOAN and SPOAN-related disorder	Associated morphology	Primary atrophy	true	Inferred relationship	Some	2
SPOAN and SPOAN-related disorder	Is a	Autosomal recessive hereditary disorder	false	Inferred relationship	Some
SPOAN and SPOAN-related disorder	Is a	Hereditary optic atrophy	true	Inferred relationship	Some
SPOAN and SPOAN-related disorder	Associated morphology	Degenerative abnormality (morphologic abnormality)	true	Inferred relationship	Some	1
SPOAN and SPOAN-related disorder	Clinical course	Progressive (qualifier value)	true	Inferred relationship	Some	4
SPOAN and SPOAN-related disorder	Is a	Chronic paraplegia (disorder)	false	Inferred relationship	Some
SPOAN and SPOAN-related disorder	Finding site	Lower limb structure	true	Inferred relationship	Some	3
SPOAN and SPOAN-related disorder	Is a	Complicated hereditary spastic paraplegia	true	Inferred relationship	Some
SPOAN and SPOAN-related disorder	Is a	Congenital atrophy of optic nerve (disorder)	false	Inferred relationship	Some
SPOAN and SPOAN-related disorder	Is a	Autosomal recessive hereditary spastic paraplegia	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Autosomal recessive spastic paraplegia type 55 (disorder)	Is a	True	SPOAN and SPOAN-related disorder	Inferred relationship	Some
Autosomal recessive spastic paraplegia type 57 (disorder)	Is a	True	SPOAN and SPOAN-related disorder	Inferred relationship	Some
Spastic paraplegia, optic atrophy, neuropathy syndrome (disorder)	Is a	True	SPOAN and SPOAN-related disorder	Inferred relationship	Some
Autosomal recessive spastic paraplegia type 74	Is a	True	SPOAN and SPOAN-related disorder	Inferred relationship	Some

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3791513010	SPOAN and SPOAN-related disorder	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3791514016	Spastic paraplegia, optic atrophy, neuropathy and spastic paraplegia, optic atrophy neuropathy-related disorder	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3791515015	Spastic paraplegia, optic atrophy, neuropathy and spastic paraplegia, optic atrophy neuropathy-related disorder (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3791516019	A group of rare genetic neurodegenerative diseases with characteristics of infancy to childhood onset of progressive spastic paraplegia (with delayed motor milestones, gait disturbances, hyperreflexia and extensor plantar responses), optic atrophy (which may be accompanied by nystagmus and visual loss) and progressive peripheral neuropathy (with sensory impairment and distal muscle weakness/atrophy in upper and lower extremities). Additional signs may include foot deformities, spinal defects (scoliosis, kyphosis), joint contractures, exaggerated startle response, speech disorders, hyperhidrosis, extrapyramidal signs and intellectual disability. In very rare cases, a variant phenotype with less prominent or absent optic atrophy and/or neuropathy may be observed.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4473681000052118	SPOAN och SPOAN-relaterad sjukdom	sv	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)