723825006: Autosomal recessive spastic paraplegia type 55 (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\Autosomal recessive spastic paraplegia type 55 (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\Autosomal recessive spastic paraplegia type 55 (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\Autosomal recessive spastic paraplegia type 55 (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\Autosomal recessive spastic paraplegia type 55 (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\Autosomal recessive spastic paraplegia type 55 (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\Autosomal recessive spastic paraplegia type 55 (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\Autosomal recessive spastic paraplegia type 55 (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\Autosomal recessive spastic paraplegia type 55 (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\Autosomal recessive spastic paraplegia type 55 (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\Autosomal recessive spastic paraplegia type 55 (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\Autosomal recessive spastic paraplegia type 55 (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\Autosomal recessive spastic paraplegia type 55 (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\Autosomal recessive spastic paraplegia type 55 (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\Autosomal recessive spastic paraplegia type 55 (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\Autosomal recessive spastic paraplegia type 55 (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\Autosomal recessive spastic paraplegia type 55 (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\Autosomal recessive spastic paraplegia type 55 (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\Autosomal recessive spastic paraplegia type 55 (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\Autosomal recessive spastic paraplegia type 55 (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\Autosomal recessive spastic paraplegia type 55 (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\Autosomal recessive spastic paraplegia type 55 (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\Autosomal recessive spastic paraplegia type 55 (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\Autosomal recessive spastic paraplegia type 55 (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\Autosomal recessive spastic paraplegia type 55 (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\Autosomal recessive spastic paraplegia type 55 (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\Autosomal recessive spastic paraplegia type 55 (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\Autosomal recessive spastic paraplegia type 55 (disorder)

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

\Inherited optic neuropathy\Hereditary optic atrophy\SPOAN and SPOAN-related disorder\Autosomal recessive spastic paraplegia type 55 (disorder)

\Optic atrophy\Primary optic atrophy\Hereditary optic atrophy\SPOAN and SPOAN-related disorder\Autosomal recessive spastic paraplegia type 55 (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\Autosomal recessive spastic paraplegia type 55 (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\Autosomal recessive spastic paraplegia type 55 (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\Autosomal recessive spastic paraplegia type 55 (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\Autosomal recessive spastic paraplegia type 55 (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\Autosomal recessive spastic paraplegia type 55 (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Autosomal recessive hereditary spastic paraplegia\SPOAN and SPOAN-related disorder\Autosomal recessive spastic paraplegia type 55 (disorder)
\Disease\Degenerative disorder\Atrophy (disorder)\Optic atrophy\Primary optic atrophy\Hereditary optic atrophy\SPOAN and SPOAN-related disorder\Autosomal recessive spastic paraplegia type 55 (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\Autosomal recessive spastic paraplegia type 55 (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\Autosomal recessive spastic paraplegia type 55 (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\Autosomal recessive spastic paraplegia type 55 (disorder)
\Disease\Degenerative disorder\Degenerative disease of the central nervous system\Optic atrophy\Primary optic atrophy\Hereditary optic atrophy\SPOAN and SPOAN-related disorder\Autosomal recessive spastic paraplegia type 55 (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\Autosomal recessive spastic paraplegia type 55 (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\Autosomal recessive spastic paraplegia type 55 (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\Autosomal recessive spastic paraplegia type 55 (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\Autosomal recessive spastic paraplegia type 55 (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\Autosomal recessive spastic paraplegia type 55 (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\Autosomal recessive spastic paraplegia type 55 (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\Autosomal recessive spastic paraplegia type 55 (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\Autosomal recessive spastic paraplegia type 55 (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\Autosomal recessive spastic paraplegia type 55 (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\Autosomal recessive spastic paraplegia type 55 (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\Autosomal recessive spastic paraplegia type 55 (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\Autosomal recessive spastic paraplegia type 55 (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\Autosomal recessive spastic paraplegia type 55 (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\Autosomal recessive spastic paraplegia type 55 (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\Autosomal recessive spastic paraplegia type 55 (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\Autosomal recessive spastic paraplegia type 55 (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\Autosomal recessive spastic paraplegia type 55 (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\Autosomal recessive spastic paraplegia type 55 (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\Autosomal recessive spastic paraplegia type 55 (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\Autosomal recessive spastic paraplegia type 55 (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\Autosomal recessive spastic paraplegia type 55 (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\Autosomal recessive spastic paraplegia type 55 (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\Autosomal recessive spastic paraplegia type 55 (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\Autosomal recessive spastic paraplegia type 55 (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\Autosomal recessive spastic paraplegia type 55 (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\Autosomal recessive spastic paraplegia type 55 (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\Autosomal recessive spastic paraplegia type 55 (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\Autosomal recessive spastic paraplegia type 55 (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\Autosomal recessive spastic paraplegia type 55 (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\Autosomal recessive spastic paraplegia type 55 (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\Autosomal recessive spastic paraplegia type 55 (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\Autosomal recessive spastic paraplegia type 55 (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\Autosomal recessive spastic paraplegia type 55 (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\Autosomal recessive spastic paraplegia type 55 (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\Autosomal recessive spastic paraplegia type 55 (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\Autosomal recessive spastic paraplegia type 55 (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\Autosomal recessive spastic paraplegia type 55 (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\Autosomal recessive spastic paraplegia type 55 (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\Autosomal recessive spastic paraplegia type 55 (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\Autosomal recessive spastic paraplegia type 55 (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\Autosomal recessive spastic paraplegia type 55 (disorder)
\Disease\Chronic disease\Chronic nervous system disorder (disorder)\Chronic paraplegia (disorder)\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\SPOAN and SPOAN-related disorder\Autosomal recessive spastic paraplegia type 55 (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3428260010 Autosomal recessive spastic paraplegia type 55 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3428261014 Autosomal recessive spastic paraplegia type 55 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3428262019 A rare complex type of hereditary spastic paraplegia with characteristics of childhood onset of progressive spastic paraplegia associated with optic atrophy (with reduced visual acuity and central scotoma), ophthalmoplegia, reduced upper-extremity strength and dexterity, muscular atrophy in the lower extremities and sensorimotor neuropathy. Caused by mutations in the C12ORF65 gene (12q24.31) encoding probable peptide chain release factor C12ORF65, mitochondrial. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

3981291000052111 autosomalt recessiv spastisk paraplegi, typ 55 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 55 (disorder)	Is a	Autosomal recessive hereditary disorder	false	Inferred relationship	Some
Autosomal recessive spastic paraplegia type 55 (disorder)	Is a	Complicated hereditary spastic paraplegia	false	Inferred relationship	Some
Autosomal recessive spastic paraplegia type 55 (disorder)	Occurrence	Congenital	false	Inferred relationship	Some
Autosomal recessive spastic paraplegia type 55 (disorder)	Finding site	Lower limb structure	false	Inferred relationship	Some
Autosomal recessive spastic paraplegia type 55 (disorder)	Associated morphology	degeneration	false	Inferred relationship	Some	3
Autosomal recessive spastic paraplegia type 55 (disorder)	Finding site	Spinal cord structure	false	Inferred relationship	Some	3
Autosomal recessive spastic paraplegia type 55 (disorder)	Finding site	Cerebellar structure	false	Inferred relationship	Some	3
Autosomal recessive spastic paraplegia type 55 (disorder)	Associated morphology	degeneration	false	Inferred relationship	Some	1
Autosomal recessive spastic paraplegia type 55 (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	1
Autosomal recessive spastic paraplegia type 55 (disorder)	Finding site	Spinal cord structure	true	Inferred relationship	Some	1
Autosomal recessive spastic paraplegia type 55 (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	2
Autosomal recessive spastic paraplegia type 55 (disorder)	Finding site	Lower limb structure	false	Inferred relationship	Some	2
Autosomal recessive spastic paraplegia type 55 (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	3
Autosomal recessive spastic paraplegia type 55 (disorder)	Clinical course	Progressive (qualifier value)	true	Inferred relationship	Some	4
Autosomal recessive spastic paraplegia type 55 (disorder)	Associated morphology	Primary atrophy	false	Inferred relationship	Some	3
Autosomal recessive spastic paraplegia type 55 (disorder)	Associated morphology	Degenerative abnormality (morphologic abnormality)	true	Inferred relationship	Some	1
Autosomal recessive spastic paraplegia type 55 (disorder)	Finding site	Optic nerve structure	false	Inferred relationship	Some	3
Autosomal recessive spastic paraplegia type 55 (disorder)	Is a	SPOAN and SPOAN-related disorder	true	Inferred relationship	Some
Autosomal recessive spastic paraplegia type 55 (disorder)	Finding site	Lower limb structure	true	Inferred relationship	Some	3
Autosomal recessive spastic paraplegia type 55 (disorder)	Finding site	Optic nerve structure	true	Inferred relationship	Some	2
Autosomal recessive spastic paraplegia type 55 (disorder)	Associated morphology	Primary atrophy	true	Inferred relationship	Some	2

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
3428260010	Autosomal recessive spastic paraplegia type 55 (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3428261014	Autosomal recessive spastic paraplegia type 55	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3428262019	A rare complex type of hereditary spastic paraplegia with characteristics of childhood onset of progressive spastic paraplegia associated with optic atrophy (with reduced visual acuity and central scotoma), ophthalmoplegia, reduced upper-extremity strength and dexterity, muscular atrophy in the lower extremities and sensorimotor neuropathy. Caused by mutations in the C12ORF65 gene (12q24.31) encoding probable peptide chain release factor C12ORF65, mitochondrial.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3981291000052111	autosomalt recessiv spastisk paraplegi, typ 55	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)