39912006: Hereditary spastic paraplegia (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\Finding of back (finding)\Finding of spinal region\Disorder of spinal region (disorder)\Spinal cord disorder (disorder)\Chronic disorder of spinal cord (disorder)\Hereditary spastic paraplegia
\Finding of back (finding)\Finding of spinal region\Finding of spinal cord (finding)\Spinal cord disorder (disorder)\Chronic disorder of spinal cord (disorder)\Hereditary spastic paraplegia
\Finding of back (finding)\Disorder of back\Disorder of spinal region (disorder)\Spinal cord disorder (disorder)\Chronic disorder of spinal cord (disorder)\Hereditary spastic paraplegia

\Finding of limb structure (finding)\Disorder of limb\Disorder of lower limb\Disorder of left lower extremity (disorder)\Paralytic syndrome of both lower limbs\Paraplegia\Chronic paraplegia (disorder)\Hereditary spastic paraplegia
\Finding of limb structure (finding)\Disorder of limb\Disorder of lower limb\Disorder of left lower extremity (disorder)\Paralytic syndrome of both lower limbs\Paraplegia\Spastic paraplegia\Hereditary spastic paraplegia
\Finding of limb structure (finding)\Disorder of limb\Disorder of lower limb\Disorder of right lower extremity (disorder)\Paralytic syndrome of both lower limbs\Paraplegia\Chronic paraplegia (disorder)\Hereditary spastic paraplegia
\Finding of limb structure (finding)\Disorder of limb\Disorder of lower limb\Disorder of right lower extremity (disorder)\Paralytic syndrome of both lower limbs\Paraplegia\Spastic paraplegia\Hereditary spastic paraplegia
\Finding of limb structure (finding)\Finding of lower limb (finding)\Disorder of lower limb\Disorder of left lower extremity (disorder)\Paralytic syndrome of both lower limbs\Paraplegia\Chronic paraplegia (disorder)\Hereditary spastic paraplegia
\Finding of limb structure (finding)\Finding of lower limb (finding)\Disorder of lower limb\Disorder of left lower extremity (disorder)\Paralytic syndrome of both lower limbs\Paraplegia\Spastic paraplegia\Hereditary spastic paraplegia
\Finding of limb structure (finding)\Finding of lower limb (finding)\Disorder of lower limb\Disorder of right lower extremity (disorder)\Paralytic syndrome of both lower limbs\Paraplegia\Chronic paraplegia (disorder)\Hereditary spastic paraplegia
\Finding of limb structure (finding)\Finding of lower limb (finding)\Disorder of lower limb\Disorder of right lower extremity (disorder)\Paralytic syndrome of both lower limbs\Paraplegia\Spastic paraplegia\Hereditary spastic paraplegia

\Finding of movement\Movement disorder\Paralytic syndrome\Paralytic syndrome of both lower limbs\Paraplegia\Chronic paraplegia (disorder)\Hereditary spastic paraplegia
\Finding of movement\Movement disorder\Paralytic syndrome\Paralytic syndrome of both lower limbs\Paraplegia\Spastic paraplegia\Hereditary spastic paraplegia
\Finding of movement\Movement disorder\Paralytic syndrome\Complete bilateral paralysis\Paraplegia\Chronic paraplegia (disorder)\Hereditary spastic paraplegia
\Finding of movement\Movement disorder\Paralytic syndrome\Complete bilateral paralysis\Paraplegia\Spastic paraplegia\Hereditary spastic paraplegia
\Finding of movement\Motor dysfunction\Paralysis (finding)\Paralytic syndrome\Paralytic syndrome of both lower limbs\Paraplegia\Chronic paraplegia (disorder)\Hereditary spastic paraplegia
\Finding of movement\Motor dysfunction\Paralysis (finding)\Paralytic syndrome\Paralytic syndrome of both lower limbs\Paraplegia\Spastic paraplegia\Hereditary spastic paraplegia
\Finding of movement\Motor dysfunction\Paralysis (finding)\Paralytic syndrome\Complete bilateral paralysis\Paraplegia\Chronic paraplegia (disorder)\Hereditary spastic paraplegia
\Finding of movement\Motor dysfunction\Paralysis (finding)\Paralytic syndrome\Complete bilateral paralysis\Paraplegia\Spastic paraplegia\Hereditary spastic paraplegia

\Central nervous system finding\Finding of spinal cord (finding)\Spinal cord disorder (disorder)\Chronic disorder of spinal cord (disorder)\Hereditary spastic paraplegia
\Central nervous system finding\Disorder of the central nervous system (disorder)\Spastic syndrome (disorder)\Spastic paraplegia\Hereditary spastic paraplegia
\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
\Central nervous system finding\Disorder of the central nervous system (disorder)\Spinal cord disorder (disorder)\Chronic disorder of spinal cord (disorder)\Hereditary spastic paraplegia

\Neurological finding\Motor nervous system finding (finding)\Motor dysfunction\Paralysis (finding)\Paralytic syndrome\...

\Paralytic syndrome of both lower limbs\Paraplegia\...

\Chronic paraplegia (disorder)\Hereditary spastic paraplegia

\Spastic paraplegia\Hereditary spastic paraplegia

\Complete bilateral paralysis\Paraplegia\...

\Chronic paraplegia (disorder)\Hereditary spastic paraplegia

\Spastic paraplegia\Hereditary spastic paraplegia

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Hereditary degenerative disease of central nervous system\Hereditary spastic paraplegia
\Disease\Degenerative disorder\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Hereditary spastic paraplegia
\Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Hereditary degenerative disease of central nervous system\Hereditary spastic paraplegia
\Disease\Disorder of body system\Disease of nervous system (disorder)\Hereditary disorder of nervous system (disorder)\Hereditary degenerative disease of central nervous system\Hereditary spastic paraplegia
\Disease\Disorder of body system\Disease of nervous system (disorder)\Chronic nervous system disorder (disorder)\Chronic disorder of spinal cord (disorder)\Hereditary spastic paraplegia
\Disease\Disorder of body system\Disease of nervous system (disorder)\Chronic nervous system disorder (disorder)\Chronic paraplegia (disorder)\Hereditary spastic paraplegia
\Disease\Disorder of body system\Disease of nervous system (disorder)\Complete bilateral paralysis\Paraplegia\Chronic paraplegia (disorder)\Hereditary spastic paraplegia
\Disease\Disorder of body system\Disease of nervous system (disorder)\Complete bilateral paralysis\Paraplegia\Spastic paraplegia\Hereditary spastic paraplegia
\Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Spastic syndrome (disorder)\Spastic paraplegia\Hereditary spastic paraplegia
\Disease\Disorder of body system\Disease 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
\Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Spinal cord disorder (disorder)\Chronic disorder of spinal cord (disorder)\Hereditary spastic paraplegia
\Disease\Disorder of limb\Disorder of lower limb\Disorder of left lower extremity (disorder)\Paralytic syndrome of both lower limbs\Paraplegia\Chronic paraplegia (disorder)\Hereditary spastic paraplegia
\Disease\Disorder of limb\Disorder of lower limb\Disorder of left lower extremity (disorder)\Paralytic syndrome of both lower limbs\Paraplegia\Spastic paraplegia\Hereditary spastic paraplegia
\Disease\Disorder of limb\Disorder of lower limb\Disorder of right lower extremity (disorder)\Paralytic syndrome of both lower limbs\Paraplegia\Chronic paraplegia (disorder)\Hereditary spastic paraplegia
\Disease\Disorder of limb\Disorder of lower limb\Disorder of right lower extremity (disorder)\Paralytic syndrome of both lower limbs\Paraplegia\Spastic paraplegia\Hereditary spastic paraplegia
\Disease\Movement disorder\Paralytic syndrome\Paralytic syndrome of both lower limbs\Paraplegia\Chronic paraplegia (disorder)\Hereditary spastic paraplegia
\Disease\Movement disorder\Paralytic syndrome\Paralytic syndrome of both lower limbs\Paraplegia\Spastic paraplegia\Hereditary spastic paraplegia
\Disease\Movement disorder\Paralytic syndrome\Complete bilateral paralysis\Paraplegia\Chronic paraplegia (disorder)\Hereditary spastic paraplegia
\Disease\Movement disorder\Paralytic syndrome\Complete bilateral paralysis\Paraplegia\Spastic paraplegia\Hereditary spastic paraplegia
\Disease\Disorder of back\Disorder of spinal region (disorder)\Spinal cord disorder (disorder)\Chronic disorder of spinal cord (disorder)\Hereditary spastic paraplegia
\Disease\Chronic disease\Chronic nervous system disorder (disorder)\Chronic disorder of spinal cord (disorder)\Hereditary spastic paraplegia
\Disease\Chronic disease\Chronic nervous system disorder (disorder)\Chronic paraplegia (disorder)\Hereditary spastic paraplegia

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2020. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Hereditary spastic paraplegia	Is a	Paraplegia	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Hereditary spastic paraplegia	Is a	Disorders primarily affecting the motor pathways	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Hereditary spastic paraplegia	Is a	Spinocerebellar disease	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Hereditary spastic paraplegia	Is a	Spastic syndrome	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Hereditary spastic paraplegia	Is a	Spinal cord disorder (disorder)	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Hereditary spastic paraplegia	Is a	Hereditary disorder of nervous system (disorder)	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Hereditary spastic paraplegia	Finding site	Spinal cord structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Hereditary spastic paraplegia	Associated morphology	dégénérescence	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Hereditary spastic paraplegia	Finding site	Cerebellar structure (body structure)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Hereditary spastic paraplegia	Finding site	Lower limb structure (body structure)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Hereditary spastic paraplegia	Finding site	Structure of central nervous system	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Hereditary spastic paraplegia	Is a	Paralysis due to lesion of spinal cord	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Hereditary spastic paraplegia	Is a	Encephalomyelopathy (disorder)	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Hereditary spastic paraplegia	Is a	Spastic syndrome (disorder)	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Hereditary spastic paraplegia	Is a	Degenerative disease of the central nervous system	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Hereditary spastic paraplegia	Is a	Lesion of brain (disorder)	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Hereditary spastic paraplegia	Is a	Degenerative brain disorder	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Hereditary spastic paraplegia	Associated morphology	dégénérescence	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Hereditary spastic paraplegia	Finding site	Spinal cord structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Hereditary spastic paraplegia	Finding site	Cerebellar structure (body structure)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Hereditary spastic paraplegia	Is a	Hereditary cerebellar degeneration	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Hereditary spastic paraplegia	Is a	Spastic paraplegia	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Hereditary spastic paraplegia	Is a	Congenital paraplegia (disorder)	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Hereditary spastic paraplegia	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Hereditary spastic paraplegia	Associated morphology	dégénérescence	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Hereditary spastic paraplegia	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Hereditary spastic paraplegia	Finding site	Spinal cord structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Hereditary spastic paraplegia	Associated morphology	Degenerative abnormality (morphologic abnormality)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Hereditary spastic paraplegia	Is a	Hereditary degenerative disease of central nervous system	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Hereditary spastic paraplegia	Is a	Chronic paraplegia (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Hereditary spastic paraplegia	Clinical course	Progressive	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Hereditary spastic paraplegia	Finding site	Spinal cord structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Hereditary spastic paraplegia	Associated morphology	Degenerative abnormality (morphologic abnormality)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Hereditary spastic paraplegia	Interprets	Movement	true	Inferred relationship	Existential restriction modifier (core metadata concept)	6
Hereditary spastic paraplegia	Finding site	Structure of right lower limb (body structure)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Hereditary spastic paraplegia	Finding site	Structure of left lower limb (body structure)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	5
Hereditary spastic paraplegia	Interprets	Movement observable	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Hereditary spastic paraplegia	Has interpretation	Absent	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Hereditary spastic paraplegia	Is a	Chronic disorder of spinal cord (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Pure hereditary spastic paraplegia	Is a	True	Hereditary spastic paraplegia	Inferred relationship	Existential restriction modifier (core metadata concept)
Complicated hereditary spastic paraplegia (disorder)	Is a	True	Hereditary spastic paraplegia	Inferred relationship	Existential restriction modifier (core metadata concept)
Hereditary sensory-motor neuropathy, type V	Is a	False	Hereditary spastic paraplegia	Inferred relationship	Existential restriction modifier (core metadata concept)
Infantile ascending hereditary spastic paralysis (disorder)	Is a	False	Hereditary spastic paraplegia	Inferred relationship	Existential restriction modifier (core metadata concept)
Spastic paraplegia type 7 (disorder)	Is a	False	Hereditary spastic paraplegia	Inferred relationship	Existential restriction modifier (core metadata concept)
Fryns macrocephaly	Is a	False	Hereditary spastic paraplegia	Inferred relationship	Existential restriction modifier (core metadata concept)
Parkinsonism due to hereditary spastic paraplegia (disorder)	Due to	True	Hereditary spastic paraplegia	Inferred relationship	Existential restriction modifier (core metadata concept)	2
X-linked spastic paraplegia type 2 (disorder)	Is a	False	Hereditary spastic paraplegia	Inferred relationship	Existential restriction modifier (core metadata concept)
Autosomal dominant spastic paraplegia type 4 (disorder)	Is a	False	Hereditary spastic paraplegia	Inferred relationship	Existential restriction modifier (core metadata concept)
X-linked hereditary spastic paraplegia (disorder)	Is a	True	Hereditary spastic paraplegia	Inferred relationship	Existential restriction modifier (core metadata concept)
Autosomal dominant spastic paraplegia type 10 (disorder)	Is a	False	Hereditary spastic paraplegia	Inferred relationship	Existential restriction modifier (core metadata concept)
Autosomal dominant spastic paraplegia type 6	Is a	False	Hereditary spastic paraplegia	Inferred relationship	Existential restriction modifier (core metadata concept)
Autosomal dominant hereditary spastic paraplegia	Is a	True	Hereditary spastic paraplegia	Inferred relationship	Existential restriction modifier (core metadata concept)
Autosomal recessive spastic paraplegia type 48 (disorder)	Is a	False	Hereditary spastic paraplegia	Inferred relationship	Existential restriction modifier (core metadata concept)
Autosomal recessive spastic paraplegia type 5A	Is a	False	Hereditary spastic paraplegia	Inferred relationship	Existential restriction modifier (core metadata concept)
A rare, pure or complex form of hereditary spastic paraplegia characterised by either a pure spastic paraplegia phenotype, usually presenting in the first or second decade of life, with spastic lower extremities, unsteady spastic gait, hyperreflexia and extensor plantar responses, or as a complicated phenotype with the additional manifestations of distal wasting, saccadic ocular movements, mild cerebellar ataxia and mild, distal, axonal neuropathy.	Is a	True	Hereditary spastic paraplegia	Inferred relationship	Existential restriction modifier (core metadata concept)
Autosomal recessive spastic paraplegia type 35 is a rare form of hereditary spastic paraplegia characterized by childhood (exceptionally adolescent) onset of a complex phenotype presenting with lower limb (followed by upper limb) spasticity with hyperreflexia and extensor plantar responses, with additional manifestations including progressive dysarthria, dystonia, mild cognitive decline, extrapyramidal features, optic atrophy and seizures. White matter abnormalities and brain iron accumulation have also been observed on brain magnetic resonance imaging.	Is a	False	Hereditary spastic paraplegia	Inferred relationship	Existential restriction modifier (core metadata concept)
A pure or complex form of hereditary spastic paraplegia characterized by an onset in the first decade of life of spastic paraparesis (more prominent in lower than upper extremities) and unsteady gait, as well as increased deep tendon reflexes, amyotrophy, cerebellar ataxia, and flexion contractures of the knees, in some.	Is a	False	Hereditary spastic paraplegia	Inferred relationship	Existential restriction modifier (core metadata concept)
Autosomal recessive spastic paraplegia type 45 (disorder)	Is a	False	Hereditary spastic paraplegia	Inferred relationship	Existential restriction modifier (core metadata concept)
Autosomal recessive spastic paraplegia type 27	Is a	False	Hereditary spastic paraplegia	Inferred relationship	Existential restriction modifier (core metadata concept)
Autosomal recessive spastic paraplegia type 56 (disorder)	Is a	False	Hereditary spastic paraplegia	Inferred relationship	Existential restriction modifier (core metadata concept)
Autosomal recessive hereditary spastic paraplegia	Is a	True	Hereditary spastic paraplegia	Inferred relationship	Existential restriction modifier (core metadata concept)
Dystonia due to hereditary spastic paraplegia	Due to	True	Hereditary spastic paraplegia	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Motor neuron disease due to hereditary spastic paraplegia (disorder)	Due to	True	Hereditary spastic paraplegia	Inferred relationship	Existential restriction modifier (core metadata concept)	2

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
66483014	Hereditary spastic paraplegia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
66484015	Strumpell-Lorrain disease	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
66485019	Familial spastic paraplegia syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
776456018	Hereditary spastic paraplegia (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1229576012	HSP - Hereditary spastic paraplegia	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
2477033013	Spastic congenital paraplegia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
66483014	Hereditary spastic paraplegia	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
66483014	Hereditary spastic paraplegia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
66484015	Strumpell-Lorrain disease	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
66485019	Familial spastic paraplegia syndrome	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
66485019	Familial spastic paraplegia syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
776456018	Hereditary spastic paraplegia (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
776456018	Hereditary spastic paraplegia (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1229576012	HSP - Hereditary spastic paraplegia	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
1229576012	HSP - Hereditary spastic paraplegia	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
1229577015	Strumpell disease	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
1229577015	Strumpell disease	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2477033013	Spastic congenital paraplegia	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
2477033013	Spastic congenital paraplegia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3394921001000119	Hereditäre spastische Paraplegie	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
443921000172112	paraplégie spastique héréditaire	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
443921000172112	paraplégie spastique héréditaire	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3394921001000119	Hereditäre spastische Paraplegie	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module