726608002: Autosomal recessive spastic paraplegia type 23 (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 23 (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\Autosomal recessive spastic paraplegia type 23 (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\Autosomal recessive spastic paraplegia type 23 (disorder)
\Finding of back (finding)\Finding of spinal region\Finding of spinal cord\Spinal cord disorder (disorder)\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\Autosomal recessive spastic paraplegia type 23 (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\Autosomal recessive spastic paraplegia type 23 (disorder)
\Finding of back (finding)\Disorder of back\Disorder of spinal region (disorder)\Spinal cord disorder (disorder)\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\Autosomal recessive spastic paraplegia type 23 (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\Autosomal recessive spastic paraplegia type 23 (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\Autosomal recessive spastic paraplegia type 23 (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\Autosomal recessive spastic paraplegia type 23 (disorder)
\Finding of limb structure\Disorder of extremity (disorder)\Disorder of lower extremity (disorder)\Paraplegia\Spastic paraplegia\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\Autosomal recessive spastic paraplegia type 23 (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\Autosomal recessive spastic paraplegia type 23 (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\Autosomal recessive spastic paraplegia type 23 (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\Autosomal recessive spastic paraplegia type 23 (disorder)
\Finding of limb structure\Finding of lower limb\Disorder of lower extremity (disorder)\Paraplegia\Spastic paraplegia\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\Autosomal recessive spastic paraplegia type 23 (disorder)

\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 23 (disorder)
\Central nervous system finding\Finding of spinal cord\Spinal cord disorder (disorder)\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\Autosomal recessive spastic paraplegia type 23 (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\Autosomal recessive spastic paraplegia type 23 (disorder)
\Central nervous system finding\Disorder of the central nervous system (disorder)\Spastic syndrome (disorder)\Spastic paraplegia\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\Autosomal recessive spastic paraplegia type 23 (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\Autosomal recessive spastic paraplegia type 23 (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\Autosomal recessive spastic paraplegia type 23 (disorder)
\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 23 (disorder)
\Central nervous system finding\Disorder of the central nervous system (disorder)\Spinal cord disorder (disorder)\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\Autosomal recessive spastic paraplegia type 23 (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\Autosomal recessive spastic paraplegia type 23 (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\Autosomal recessive spastic paraplegia type 23 (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Autosomal recessive hereditary spastic paraplegia\Autosomal recessive spastic paraplegia type 23 (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\Autosomal recessive spastic paraplegia type 23 (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\Autosomal recessive spastic paraplegia type 23 (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\Autosomal recessive spastic paraplegia type 23 (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\Autosomal recessive spastic paraplegia type 23 (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\Autosomal recessive spastic paraplegia type 23 (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\Autosomal recessive spastic paraplegia type 23 (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\Autosomal recessive spastic paraplegia type 23 (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\Autosomal recessive spastic paraplegia type 23 (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\Autosomal recessive spastic paraplegia type 23 (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\Autosomal recessive spastic paraplegia type 23 (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\Autosomal recessive spastic paraplegia type 23 (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\Autosomal recessive spastic paraplegia type 23 (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\Autosomal recessive spastic paraplegia type 23 (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\Autosomal recessive spastic paraplegia type 23 (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\Autosomal recessive spastic paraplegia type 23 (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\Autosomal recessive spastic paraplegia type 23 (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\Autosomal recessive spastic paraplegia type 23 (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\Autosomal recessive spastic paraplegia type 23 (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\Autosomal recessive spastic paraplegia type 23 (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\Autosomal recessive spastic paraplegia type 23 (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\Autosomal recessive spastic paraplegia type 23 (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\Autosomal recessive spastic paraplegia type 23 (disorder)
\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 23 (disorder)
\Disease\Disorder of extremity (disorder)\Disorder of lower extremity (disorder)\Paraplegia\Chronic paraplegia (disorder)\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\Autosomal recessive spastic paraplegia type 23 (disorder)
\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 23 (disorder)
\Disease\Disorder of extremity (disorder)\Disorder of lower extremity (disorder)\Paraplegia\Spastic paraplegia\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\Autosomal recessive spastic paraplegia type 23 (disorder)
\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 23 (disorder)
\Disease\Disorder of back\Disorder of spinal region (disorder)\Spinal cord disorder (disorder)\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\Autosomal recessive spastic paraplegia type 23 (disorder)
\Disease\Chronic disease\Chronic nervous system disorder (disorder)\Chronic paraplegia (disorder)\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\Autosomal recessive spastic paraplegia type 23 (disorder)
\Disease\Chronic disease\Chronic nervous system disorder (disorder)\Chronic paraplegia (disorder)\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\Autosomal recessive spastic paraplegia type 23 (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

3450937012 Autosomal recessive spastic paraplegia type 23 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3450938019 Autosomal recessive spastic paraplegia type 23 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3450939010 Lison syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

3450940012 Spastic paraparesis, vitiligo, premature graying, characteristic facies syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3450941011 Spastic paraparesis, vitiligo, premature greying, characteristic facies syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

4611839016 A rare complex type of hereditary spastic paraplegia that presents in childhood with progressive spastic paraplegia, associated with peripheral neuropathy, skin pigment abnormalities (i.e. vitiligo, hyperpigmentation, diffuse lentigines), premature graying of hair and characteristic facies (i.e. thin with sharp features). The SPG23 phenotype has been mapped to a locus on chromosome 1q24-q32. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

4611840019 A rare complex type of hereditary spastic paraplegia that presents in childhood with progressive spastic paraplegia, associated with peripheral neuropathy, skin pigment abnormalities (i.e. vitiligo, hyperpigmentation, diffuse lentigines), premature greying of hair and characteristic facies (i.e. thin with sharp features). The SPG23 phenotype has been mapped to a locus on chromosome 1q24-q32. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

4001591000052118 autosomalt recessiv spastisk paraplegi, typ 23 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 23 (disorder)	Is a	Autosomal recessive hereditary disorder	false	Inferred relationship	Some
Autosomal recessive spastic paraplegia type 23 (disorder)	Is a	Complicated hereditary spastic paraplegia	true	Inferred relationship	Some
Autosomal recessive spastic paraplegia type 23 (disorder)	Occurrence	Congenital	false	Inferred relationship	Some
Autosomal recessive spastic paraplegia type 23 (disorder)	Finding site	Lower limb structure	false	Inferred relationship	Some
Autosomal recessive spastic paraplegia type 23 (disorder)	Associated morphology	degeneration	false	Inferred relationship	Some	3
Autosomal recessive spastic paraplegia type 23 (disorder)	Finding site	Spinal cord structure	false	Inferred relationship	Some	3
Autosomal recessive spastic paraplegia type 23 (disorder)	Finding site	Cerebellar structure	false	Inferred relationship	Some	3
Autosomal recessive spastic paraplegia type 23 (disorder)	Associated morphology	degeneration	false	Inferred relationship	Some	1
Autosomal recessive spastic paraplegia type 23 (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	1
Autosomal recessive spastic paraplegia type 23 (disorder)	Finding site	Spinal cord structure	true	Inferred relationship	Some	1
Autosomal recessive spastic paraplegia type 23 (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	2
Autosomal recessive spastic paraplegia type 23 (disorder)	Finding site	Lower limb structure	true	Inferred relationship	Some	2
Autosomal recessive spastic paraplegia type 23 (disorder)	Associated morphology	Degenerative abnormality (morphologic abnormality)	true	Inferred relationship	Some	1
Autosomal recessive spastic paraplegia type 23 (disorder)	Is a	Autosomal recessive hereditary spastic paraplegia	true	Inferred relationship	Some
Autosomal recessive spastic paraplegia type 23 (disorder)	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

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3450937012	Autosomal recessive spastic paraplegia type 23 (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3450938019	Autosomal recessive spastic paraplegia type 23	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3450939010	Lison syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3450940012	Spastic paraparesis, vitiligo, premature graying, characteristic facies syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3450941011	Spastic paraparesis, vitiligo, premature greying, characteristic facies syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4611839016	A rare complex type of hereditary spastic paraplegia that presents in childhood with progressive spastic paraplegia, associated with peripheral neuropathy, skin pigment abnormalities (i.e. vitiligo, hyperpigmentation, diffuse lentigines), premature graying of hair and characteristic facies (i.e. thin with sharp features). The SPG23 phenotype has been mapped to a locus on chromosome 1q24-q32.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4611840019	A rare complex type of hereditary spastic paraplegia that presents in childhood with progressive spastic paraplegia, associated with peripheral neuropathy, skin pigment abnormalities (i.e. vitiligo, hyperpigmentation, diffuse lentigines), premature greying of hair and characteristic facies (i.e. thin with sharp features). The SPG23 phenotype has been mapped to a locus on chromosome 1q24-q32.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4001591000052118	autosomalt recessiv spastisk paraplegi, typ 23	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)