732948003: Autosomal dominant spastic paraplegia type 10 (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 dominant hereditary spastic paraplegia\Autosomal dominant spastic paraplegia type 10 (disorder)
\Finding of back (finding)\Finding of spinal region\Finding of spinal cord\Spinal cord disorder (disorder)\Hereditary spastic paraplegia\Autosomal dominant hereditary spastic paraplegia\Autosomal dominant spastic paraplegia type 10 (disorder)
\Finding of back (finding)\Disorder of back\Disorder of spinal region (disorder)\Spinal cord disorder (disorder)\Hereditary spastic paraplegia\Autosomal dominant hereditary spastic paraplegia\Autosomal dominant spastic paraplegia type 10 (disorder)

\Finding of limb structure\Disorder of extremity (disorder)\Disorder of lower extremity (disorder)\Paraplegia\Chronic paraplegia (disorder)\Hereditary spastic paraplegia\Autosomal dominant hereditary spastic paraplegia\Autosomal dominant spastic paraplegia type 10 (disorder)
\Finding of limb structure\Disorder of extremity (disorder)\Disorder of lower extremity (disorder)\Paraplegia\Spastic paraplegia\Hereditary spastic paraplegia\Autosomal dominant hereditary spastic paraplegia\Autosomal dominant spastic paraplegia type 10 (disorder)
\Finding of limb structure\Finding of lower limb\Disorder of lower extremity (disorder)\Paraplegia\Chronic paraplegia (disorder)\Hereditary spastic paraplegia\Autosomal dominant hereditary spastic paraplegia\Autosomal dominant spastic paraplegia type 10 (disorder)
\Finding of limb structure\Finding of lower limb\Disorder of lower extremity (disorder)\Paraplegia\Spastic paraplegia\Hereditary spastic paraplegia\Autosomal dominant hereditary spastic paraplegia\Autosomal dominant spastic paraplegia type 10 (disorder)

\Central nervous system finding\Finding of spinal cord\Spinal cord disorder (disorder)\Hereditary spastic paraplegia\Autosomal dominant hereditary spastic paraplegia\Autosomal dominant spastic paraplegia type 10 (disorder)
\Central nervous system finding\Disorder of the central nervous system (disorder)\Spastic syndrome (disorder)\Spastic paraplegia\Hereditary spastic paraplegia\Autosomal dominant hereditary spastic paraplegia\Autosomal dominant spastic paraplegia type 10 (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 dominant hereditary spastic paraplegia\Autosomal dominant spastic paraplegia type 10 (disorder)
\Central nervous system finding\Disorder of the central nervous system (disorder)\Spinal cord disorder (disorder)\Hereditary spastic paraplegia\Autosomal dominant hereditary spastic paraplegia\Autosomal dominant spastic paraplegia type 10 (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 dominant hereditary spastic paraplegia\Autosomal dominant spastic paraplegia type 10 (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Autosomal dominant hereditary spastic paraplegia\Autosomal dominant spastic paraplegia type 10 (disorder)
\Disease\Degenerative disorder\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Hereditary spastic paraplegia\Autosomal dominant hereditary spastic paraplegia\Autosomal dominant spastic paraplegia type 10 (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 dominant hereditary spastic paraplegia\Autosomal dominant spastic paraplegia type 10 (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 dominant hereditary spastic paraplegia\Autosomal dominant spastic paraplegia type 10 (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Chronic nervous system disorder (disorder)\Chronic paraplegia (disorder)\Hereditary spastic paraplegia\Autosomal dominant hereditary spastic paraplegia\Autosomal dominant spastic paraplegia type 10 (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 dominant hereditary spastic paraplegia\Autosomal dominant spastic paraplegia type 10 (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 dominant hereditary spastic paraplegia\Autosomal dominant spastic paraplegia type 10 (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Paralytic syndrome\Complete bilateral paralysis\Paraplegia\Chronic paraplegia (disorder)\Hereditary spastic paraplegia\Autosomal dominant hereditary spastic paraplegia\Autosomal dominant spastic paraplegia type 10 (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Paralytic syndrome\Complete bilateral paralysis\Paraplegia\Spastic paraplegia\Hereditary spastic paraplegia\Autosomal dominant hereditary spastic paraplegia\Autosomal dominant spastic paraplegia type 10 (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 dominant hereditary spastic paraplegia\Autosomal dominant spastic paraplegia type 10 (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 dominant hereditary spastic paraplegia\Autosomal dominant spastic paraplegia type 10 (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 dominant hereditary spastic paraplegia\Autosomal dominant spastic paraplegia type 10 (disorder)
\Disease\Disorder of extremity (disorder)\Disorder of lower extremity (disorder)\Paraplegia\Chronic paraplegia (disorder)\Hereditary spastic paraplegia\Autosomal dominant hereditary spastic paraplegia\Autosomal dominant spastic paraplegia type 10 (disorder)
\Disease\Disorder of extremity (disorder)\Disorder of lower extremity (disorder)\Paraplegia\Spastic paraplegia\Hereditary spastic paraplegia\Autosomal dominant hereditary spastic paraplegia\Autosomal dominant spastic paraplegia type 10 (disorder)
\Disease\Disorder of back\Disorder of spinal region (disorder)\Spinal cord disorder (disorder)\Hereditary spastic paraplegia\Autosomal dominant hereditary spastic paraplegia\Autosomal dominant spastic paraplegia type 10 (disorder)
\Disease\Chronic disease\Chronic nervous system disorder (disorder)\Chronic paraplegia (disorder)\Hereditary spastic paraplegia\Autosomal dominant hereditary spastic paraplegia\Autosomal dominant spastic paraplegia type 10 (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

3498419013 Autosomal dominant spastic paraplegia type 10 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3498420019 Autosomal dominant spastic paraplegia type 10 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3499915016 A rare type of hereditary spastic paraplegia that can present as either a pure form of spastic paraplegia with lower limb spasticity, hyperreflexia and extensor plantar responses, presenting in childhood or adolescence, or as a complex phenotype associated with additional manifestations including peripheral neuropathy with upper limb amyotrophy, moderate intellectual disability and parkinsonism. Deafness and retinitis pigmentosa were reported in one case. Caused by mutations in the KIF5A gene (12q13.13) encoding the protein kinesin heavy chain isoform 5A. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

3956061000052111 autosomalt dominant spastisk paraplegi, typ 10 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 dominant spastic paraplegia type 10 (disorder)	Is a	Autosomal dominant hereditary disorder	false	Inferred relationship	Some
Autosomal dominant spastic paraplegia type 10 (disorder)	Is a	Hereditary spastic paraplegia	false	Inferred relationship	Some
Autosomal dominant spastic paraplegia type 10 (disorder)	Occurrence	Congenital	false	Inferred relationship	Some
Autosomal dominant spastic paraplegia type 10 (disorder)	Finding site	Lower limb structure	false	Inferred relationship	Some
Autosomal dominant spastic paraplegia type 10 (disorder)	Associated morphology	degeneration	false	Inferred relationship	Some	3
Autosomal dominant spastic paraplegia type 10 (disorder)	Finding site	Spinal cord structure	false	Inferred relationship	Some	3
Autosomal dominant spastic paraplegia type 10 (disorder)	Finding site	Cerebellar structure	false	Inferred relationship	Some	3
Autosomal dominant spastic paraplegia type 10 (disorder)	Associated morphology	degeneration	false	Inferred relationship	Some	1
Autosomal dominant spastic paraplegia type 10 (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	1
Autosomal dominant spastic paraplegia type 10 (disorder)	Finding site	Spinal cord structure	true	Inferred relationship	Some	1
Autosomal dominant spastic paraplegia type 10 (disorder)	Is a	Autosomal dominant hereditary spastic paraplegia	true	Inferred relationship	Some
Autosomal dominant spastic paraplegia type 10 (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	2
Autosomal dominant spastic paraplegia type 10 (disorder)	Finding site	Lower limb structure	true	Inferred relationship	Some	2
Autosomal dominant spastic paraplegia type 10 (disorder)	Associated morphology	Degenerative abnormality (morphologic abnormality)	true	Inferred relationship	Some	1
Autosomal dominant spastic paraplegia type 10 (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

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Id	Description	Lang	Type	Status	Case?	Module
3498419013	Autosomal dominant spastic paraplegia type 10 (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3498420019	Autosomal dominant spastic paraplegia type 10	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3499915016	A rare type of hereditary spastic paraplegia that can present as either a pure form of spastic paraplegia with lower limb spasticity, hyperreflexia and extensor plantar responses, presenting in childhood or adolescence, or as a complex phenotype associated with additional manifestations including peripheral neuropathy with upper limb amyotrophy, moderate intellectual disability and parkinsonism. Deafness and retinitis pigmentosa were reported in one case. Caused by mutations in the KIF5A gene (12q13.13) encoding the protein kinesin heavy chain isoform 5A.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3956061000052111	autosomalt dominant spastisk paraplegi, typ 10	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)