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

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

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

\Central nervous system finding\Finding of spinal cord\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\Motor dysfunction\Paralysis\Paralytic syndrome\...

\Paralytic syndrome of bilateral lower limbs (disorder)\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\Hereditary disorder of nervous system\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\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Hereditary spastic paraplegia
\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
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Chronic nervous system disorder\Chronic disorder of spinal cord (disorder)\Hereditary spastic paraplegia
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Chronic nervous system disorder\Chronic paraplegia (disorder)\Hereditary spastic paraplegia
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Complete bilateral paralysis\Paraplegia\Chronic paraplegia (disorder)\Hereditary spastic paraplegia
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Complete bilateral paralysis\Paraplegia\Spastic paraplegia\Hereditary spastic paraplegia
\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
\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
\Disease\Disorder of body system\Disorder 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)\Disorder of lower limb\Disorder of left lower extremity (disorder)\Paralytic syndrome of bilateral lower limbs (disorder)\Paraplegia\Chronic paraplegia (disorder)\Hereditary spastic paraplegia
\Disease\Disorder of limb (disorder)\Disorder of lower limb\Disorder of left lower extremity (disorder)\Paralytic syndrome of bilateral lower limbs (disorder)\Paraplegia\Spastic paraplegia\Hereditary spastic paraplegia
\Disease\Disorder of limb (disorder)\Disorder of lower limb\Disorder of right lower extremity (disorder)\Paralytic syndrome of bilateral lower limbs (disorder)\Paraplegia\Chronic paraplegia (disorder)\Hereditary spastic paraplegia
\Disease\Disorder of limb (disorder)\Disorder of lower limb\Disorder of right lower extremity (disorder)\Paralytic syndrome of bilateral lower limbs (disorder)\Paraplegia\Spastic paraplegia\Hereditary spastic paraplegia
\Disease\Movement disorder\Paralytic syndrome\Paralytic syndrome of bilateral lower limbs (disorder)\Paraplegia\Chronic paraplegia (disorder)\Hereditary spastic paraplegia
\Disease\Movement disorder\Paralytic syndrome\Paralytic syndrome of bilateral lower limbs (disorder)\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 including back of neck.\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\Chronic disorder of spinal cord (disorder)\Hereditary spastic paraplegia
\Disease\Chronic disease\Chronic nervous system 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	Some
Hereditary spastic paraplegia	Is a	Disorder primarily affecting the motor pathways	false	Inferred relationship	Some
Hereditary spastic paraplegia	Is a	Spinocerebellar disease	false	Inferred relationship	Some
Hereditary spastic paraplegia	Is a	Spastic syndrome	false	Inferred relationship	Some
Hereditary spastic paraplegia	Is a	Spinal cord disorder (disorder)	false	Inferred relationship	Some
Hereditary spastic paraplegia	Is a	Hereditary disorder of nervous system	false	Inferred relationship	Some
Hereditary spastic paraplegia	Finding site	Spinal cord structure	false	Inferred relationship	Some	1
Hereditary spastic paraplegia	Associated morphology	dégénérescence	false	Inferred relationship	Some	1
Hereditary spastic paraplegia	Finding site	Cerebellar structure	false	Inferred relationship	Some	1
Hereditary spastic paraplegia	Finding site	Body structure that includes the hip, thigh, leg, ankle and foot.	false	Inferred relationship	Some	1
Hereditary spastic paraplegia	Finding site	Structure of central nervous system (body structure)	false	Inferred relationship	Some	2
Hereditary spastic paraplegia	Is a	Paralysis due to lesion of spinal cord (disorder)	false	Inferred relationship	Some
Hereditary spastic paraplegia	Is a	Encephalomyelopathy (disorder)	false	Inferred relationship	Some
Hereditary spastic paraplegia	Is a	Spastic syndrome (disorder)	false	Inferred relationship	Some
Hereditary spastic paraplegia	Is a	Degenerative disease of the central nervous system	false	Inferred relationship	Some
Hereditary spastic paraplegia	Is a	Lesion of brain	false	Inferred relationship	Some
Hereditary spastic paraplegia	Is a	Degenerative brain disorder	false	Inferred relationship	Some
Hereditary spastic paraplegia	Associated morphology	dégénérescence	false	Inferred relationship	Some	1
Hereditary spastic paraplegia	Finding site	Spinal cord structure	false	Inferred relationship	Some	1
Hereditary spastic paraplegia	Finding site	Cerebellar structure	false	Inferred relationship	Some	1
Hereditary spastic paraplegia	Is a	Hereditary cerebellar degeneration	false	Inferred relationship	Some
Hereditary spastic paraplegia	Is a	Spastic paraplegia	true	Inferred relationship	Some
Hereditary spastic paraplegia	Is a	Congenital paraplegia	false	Inferred relationship	Some
Hereditary spastic paraplegia	Occurrence	Congenital	false	Inferred relationship	Some
Hereditary spastic paraplegia	Associated morphology	dégénérescence	false	Inferred relationship	Some	2
Hereditary spastic paraplegia	Occurrence	Congenital	false	Inferred relationship	Some	2
Hereditary spastic paraplegia	Finding site	Spinal cord structure	false	Inferred relationship	Some	2
Hereditary spastic paraplegia	Associated morphology	Degenerative abnormality	false	Inferred relationship	Some	2
Hereditary spastic paraplegia	Is a	Hereditary degenerative disease of central nervous system	true	Inferred relationship	Some
Hereditary spastic paraplegia	Is a	Chronic paraplegia (disorder)	true	Inferred relationship	Some
Hereditary spastic paraplegia	Clinical course	Progressive	true	Inferred relationship	Some	2
Hereditary spastic paraplegia	Finding site	Spinal cord structure	true	Inferred relationship	Some	3
Hereditary spastic paraplegia	Associated morphology	Degenerative abnormality	true	Inferred relationship	Some	3
Hereditary spastic paraplegia	Interprets	mouvement	false	Inferred relationship	Some	6
Hereditary spastic paraplegia	Finding site	Structure of right lower limb (body structure)	true	Inferred relationship	Some	4
Hereditary spastic paraplegia	Finding site	Structure of left lower limb (body structure)	true	Inferred relationship	Some	5
Hereditary spastic paraplegia	Interprets	Movement observable	true	Inferred relationship	Some	1
Hereditary spastic paraplegia	Has interpretation	Absent	true	Inferred relationship	Some	1
Hereditary spastic paraplegia	Is a	Chronic disorder of spinal cord (disorder)	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Pure hereditary spastic paraplegia	Is a	True	Hereditary spastic paraplegia	Inferred relationship	Some
Complicated hereditary spastic paraplegia	Is a	True	Hereditary spastic paraplegia	Inferred relationship	Some
Hereditary sensory-motor neuropathy, type V	Is a	False	Hereditary spastic paraplegia	Inferred relationship	Some
Infantile ascending hereditary spastic paralysis (disorder)	Is a	False	Hereditary spastic paraplegia	Inferred relationship	Some
A form of hereditary spastic ataxia characterised by an onset usually in adulthood (but ranging from 10-72 years) of progressive bilateral lower limb weakness and spasticity and sometimes predominant cerebellar ataxia. In addition to frequent sphincter dysfunction and decreased vibratory sense at the ankles, manifestations may include optical neuropathy, nystagmus, blepharoptosis, ophthalmoplegia, decreased hearing, scoliosis, pes cavus, motor and sensory neuropathy, muscle atrophy, parkinsonism, and dystonia.	Is a	False	Hereditary spastic paraplegia	Inferred relationship	Some
Macrocephaly-spastic paraplegia-dysmorphism syndrome is a rare syndrome of multiple congenital anomalies characterized by macrocephaly (of post-natal onset) with large anterior fontanelle, progressive complex spastic paraplegia, dysmorphic facial features (broad and high forehead, deeply set eyes, short philtrum with thin upper lip, large mouth and prominent incisors), seizures, and intellectual deficit of varying severity. Inheritance appears to be autosomal recessive.	Is a	False	Hereditary spastic paraplegia	Inferred relationship	Some
Parkinsonism due to hereditary spastic paraplegia (disorder)	Due to	True	Hereditary spastic paraplegia	Inferred relationship	Some	2
A rare, X-linked leukodystrophy characterized primarily by spastic gait and autonomic dysfunction. When additional central nervous system (CNS) signs, such as intellectual deficit, ataxia, or extrapyramidal signs, are present, the syndrome is referred to as complicated SPG.	Is a	False	Hereditary spastic paraplegia	Inferred relationship	Some
A rare form of hereditary spastic paraplegia with high intrafamilial clinical variability, characterized in most cases as a pure phenotype with an adult onset (mainly the 3rd to 5th decade of life, but that can present at any age) of progressive gait impairment due to bilateral lower-limb spasticity and weakness as well as very mild proximal weakness and urinary urgency. In some cases, a complex phenotype is also reported with additional manifestations including cognitive impairment, cerebellar ataxia, epilepsy and neuropathy. A faster disease progression is noted in patients with a later age of onset.	Is a	False	Hereditary spastic paraplegia	Inferred relationship	Some
X-linked hereditary spastic paraplegia (disorder)	Is a	True	Hereditary spastic paraplegia	Inferred relationship	Some
A rare, hereditary spastic paraplegia that can present as either a pure or complex phenotype. The pure form is characterized by lower limb spasticity, hyperreflexia and extensor plantar responses, presenting in childhood or adolescence. The complex form is characterized by the association with additional manifestations including peripheral neuropathy with upper limb muscle atrophy, moderate intellectual disability and parkinsonism. Deafness and retinitis pigmentosa have also been reported.	Is a	False	Hereditary spastic paraplegia	Inferred relationship	Some
A rare, pure or complex form of hereditary spastic paraplegia typically characterized by presentation in late adolescence or early adulthood as a pure phenotype of lower limb spasticity with hyperreflexia and extensor plantar responses, as well as mild bladder disturbances and pes cavus. Rarely, it can present as a complex phenotype with additional manifestations including epilepsy, variable peripheral neuropathy and/or memory impairment.	Is a	False	Hereditary spastic paraplegia	Inferred relationship	Some
Autosomal dominant hereditary spastic paraplegia	Is a	True	Hereditary spastic paraplegia	Inferred relationship	Some
A rare, pure or complex form of hereditary spastic paraplegia usually characterized by a pure phenotype of a slowly progressive spastic paraplegia associated with urinary incontinence with an onset in mid- to late-adulthood. A complex phenotype, with the additional findings of cognitive impairment, sensorimotor polyneuropathy, ataxia, parkinsonism, and dystonia as well as thin corpus callosum and white matter lesions (seen on brain and spine magnetic resonance imaging), has also been reported.	Is a	False	Hereditary spastic paraplegia	Inferred relationship	Some
Autosomal recessive spastic paraplegia type 5A is a form of hereditary spastic paraplegia characterized by either a pure phenotype of slowly progressive spastic paraplegia of the lower extremities with bladder dysfunction and pes cavus or a complex presentation with additional manifestations including cerebellar signs, nystagmus, distal or generalized muscle atrophy and cognitive impairment. Age of onset is highly variable, ranging from early childhood to adulthood. White matter hyperintensity and cerebellar and spinal cord atrophy may be noted, on brain magnetic resonance imaging, in some patients.	Is a	False	Hereditary spastic paraplegia	Inferred relationship	Some
A rare, pure or complex form of hereditary spastic paraplegia characterized 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	Some
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	Some
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	Some
Autosomal recessive spastic paraplegia type 45 is a rare, pure or complex form of hereditary spastic paraplegia characterized by onset in infancy of progressive lower limb spasticity, abnormal gait, increased deep tendon reflexes and extensor plantar responses, that may be associated with intellectual disability. Additional signs, such as contractures in the lower limbs, amyotrophy, clubfoot and optic atrophy, have also been reported.	Is a	False	Hereditary spastic paraplegia	Inferred relationship	Some
Autosomal recessive spastic paraplegia type 27 is a rare, pure or complex hereditary spastic paraplegia characterized by a variable onset of slowly progressive lower limb spasticity, hyperreflexia and extensor plantar responses, that may be associated with sensorimotor polyneuropathy, decreased vibration sense, lower limb distal muscle wasting, dysarthria and mild to moderate intellectual disability.	Is a	False	Hereditary spastic paraplegia	Inferred relationship	Some
A rare form of hereditary spastic paraplegia characterized by delayed walking, toe walking, unsteady and spastic gait, hyperreflexia of the lower limbs, and extensor plantar responses. Upper limbs spasticity and dystonia, subclinical axonal neuropathy, cognitive impairment and intellectual disability have also been associated.	Is a	False	Hereditary spastic paraplegia	Inferred relationship	Some
Autosomal recessive hereditary spastic paraplegia	Is a	True	Hereditary spastic paraplegia	Inferred relationship	Some
Dystonia due to hereditary spastic paraplegia (disorder)	Due to	True	Hereditary spastic paraplegia	Inferred relationship	Some	3
Motor neuron disease due to hereditary spastic paraplegia (disorder)	Due to	True	Hereditary spastic paraplegia	Inferred relationship	Some	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
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