1187279003: Autosomal recessive 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\Autosomal recessive 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\Autosomal recessive 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\Autosomal recessive 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\Autosomal recessive 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\Autosomal recessive 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\Autosomal recessive 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\Autosomal recessive 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\Autosomal recessive 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\Autosomal recessive 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\Autosomal recessive 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\Autosomal recessive hereditary spastic paraplegia

\Finding of movement\Movement disorder\Paralytic syndrome\Paralytic syndrome of both lower limbs\Paraplegia\Chronic paraplegia (disorder)\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia
\Finding of movement\Movement disorder\Paralytic syndrome\Paralytic syndrome of both lower limbs\Paraplegia\Spastic paraplegia\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia
\Finding of movement\Movement disorder\Paralytic syndrome\Complete bilateral paralysis\Paraplegia\Chronic paraplegia (disorder)\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia
\Finding of movement\Movement disorder\Paralytic syndrome\Complete bilateral paralysis\Paraplegia\Spastic paraplegia\Hereditary spastic paraplegia\Autosomal recessive 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\Autosomal recessive hereditary spastic paraplegia
\Finding of movement\Motor dysfunction\Paralysis (finding)\Paralytic syndrome\Paralytic syndrome of both lower limbs\Paraplegia\Spastic paraplegia\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia
\Finding of movement\Motor dysfunction\Paralysis (finding)\Paralytic syndrome\Complete bilateral paralysis\Paraplegia\Chronic paraplegia (disorder)\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia
\Finding of movement\Motor dysfunction\Paralysis (finding)\Paralytic syndrome\Complete bilateral paralysis\Paraplegia\Spastic paraplegia\Hereditary spastic paraplegia\Autosomal recessive 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\Autosomal recessive hereditary spastic paraplegia
\Central nervous system finding\Disorder of the central nervous system (disorder)\Spastic syndrome (disorder)\Spastic paraplegia\Hereditary spastic paraplegia\Autosomal recessive 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\Autosomal recessive 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\Autosomal recessive 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\Autosomal recessive hereditary spastic paraplegia

\Spastic paraplegia\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia

\Complete bilateral paralysis\Paraplegia\...

\Chronic paraplegia (disorder)\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia

\Spastic paraplegia\Hereditary spastic paraplegia\Autosomal recessive 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\Autosomal recessive hereditary spastic paraplegia
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Autosomal recessive hereditary spastic paraplegia
\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
\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\Autosomal recessive 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\Autosomal recessive 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\Autosomal recessive hereditary spastic paraplegia
\Disease\Disorder of body system\Disease of nervous system (disorder)\Chronic nervous system disorder (disorder)\Chronic paraplegia (disorder)\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia
\Disease\Disorder of body system\Disease of nervous system (disorder)\Complete bilateral paralysis\Paraplegia\Chronic paraplegia (disorder)\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia
\Disease\Disorder of body system\Disease of nervous system (disorder)\Complete bilateral paralysis\Paraplegia\Spastic paraplegia\Hereditary spastic paraplegia\Autosomal recessive 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\Autosomal recessive 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\Autosomal recessive 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\Autosomal recessive 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\Autosomal recessive 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\Autosomal recessive 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\Autosomal recessive 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\Autosomal recessive hereditary spastic paraplegia
\Disease\Movement disorder\Paralytic syndrome\Paralytic syndrome of both lower limbs\Paraplegia\Chronic paraplegia (disorder)\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia
\Disease\Movement disorder\Paralytic syndrome\Paralytic syndrome of both lower limbs\Paraplegia\Spastic paraplegia\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia
\Disease\Movement disorder\Paralytic syndrome\Complete bilateral paralysis\Paraplegia\Chronic paraplegia (disorder)\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia
\Disease\Movement disorder\Paralytic syndrome\Complete bilateral paralysis\Paraplegia\Spastic paraplegia\Hereditary spastic paraplegia\Autosomal recessive 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\Autosomal recessive hereditary spastic paraplegia
\Disease\Chronic disease\Chronic nervous system disorder (disorder)\Chronic disorder of spinal cord (disorder)\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia
\Disease\Chronic disease\Chronic nervous system disorder (disorder)\Chronic paraplegia (disorder)\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2022. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Autosomal recessive hereditary spastic paraplegia	Is a	Hereditary spastic paraplegia	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Autosomal recessive hereditary spastic paraplegia	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Autosomal recessive hereditary spastic paraplegia	Clinical course	Progressive	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Autosomal recessive hereditary spastic paraplegia	Finding site	Lower limb structure (body structure)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Autosomal recessive hereditary spastic paraplegia	Finding site	Spinal cord structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Autosomal recessive hereditary spastic paraplegia	Associated morphology	Degenerative abnormality (morphologic abnormality)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Autosomal recessive hereditary spastic paraplegia	Interprets	Movement	true	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Autosomal recessive hereditary spastic paraplegia	Finding site	Structure of right lower limb (body structure)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	5
Autosomal recessive hereditary spastic paraplegia	Finding site	Structure of left lower limb (body structure)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	6
Autosomal recessive hereditary spastic paraplegia	Interprets	Movement observable	true	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Autosomal recessive hereditary spastic paraplegia	Has interpretation	Absent	true	Inferred relationship	Existential restriction modifier (core metadata concept)	3

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Infantile ascending hereditary spastic paralysis (disorder)	Is a	True	Autosomal recessive hereditary spastic paraplegia	Inferred relationship	Existential restriction modifier (core metadata concept)
Autosomal recessive spastic paraplegia type 58	Is a	True	Autosomal recessive hereditary spastic paraplegia	Inferred relationship	Existential restriction modifier (core metadata concept)
Autosomal recessive spastic paraplegia type 70 (disorder)	Is a	True	Autosomal recessive hereditary spastic paraplegia	Inferred relationship	Existential restriction modifier (core metadata concept)
Autosomal recessive spastic paraplegia type 48 (disorder)	Is a	True	Autosomal recessive hereditary spastic paraplegia	Inferred relationship	Existential restriction modifier (core metadata concept)
Autosomal recessive spastic paraplegia type 5A	Is a	True	Autosomal recessive hereditary spastic paraplegia	Inferred relationship	Existential restriction modifier (core metadata concept)
Autosomal recessive spastic paraplegia type 28	Is a	True	Autosomal recessive hereditary spastic paraplegia	Inferred relationship	Existential restriction modifier (core metadata concept)
Autosomal recessive spastic paraplegia type 15 (disorder)	Is a	True	Autosomal recessive 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	True	Autosomal recessive hereditary spastic paraplegia	Inferred relationship	Existential restriction modifier (core metadata concept)
Autosomal recessive spastic paraplegia type 21	Is a	True	Autosomal recessive hereditary spastic paraplegia	Inferred relationship	Existential restriction modifier (core metadata concept)
Autosomal recessive spastic paraplegia type 43 (disorder)	Is a	True	Autosomal recessive 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	True	Autosomal recessive hereditary spastic paraplegia	Inferred relationship	Existential restriction modifier (core metadata concept)
Autosomal recessive spastic paraplegia type 45 (disorder)	Is a	True	Autosomal recessive hereditary spastic paraplegia	Inferred relationship	Existential restriction modifier (core metadata concept)
Autosomal recessive spastic paraplegia type 67 (disorder)	Is a	True	Autosomal recessive hereditary spastic paraplegia	Inferred relationship	Existential restriction modifier (core metadata concept)
Autosomal recessive spastic paraplegia type 59	Is a	True	Autosomal recessive hereditary spastic paraplegia	Inferred relationship	Existential restriction modifier (core metadata concept)
SPOAN and SPOAN-related disorder	Is a	True	Autosomal recessive hereditary spastic paraplegia	Inferred relationship	Existential restriction modifier (core metadata concept)
Hereditary sensory and autonomic neuropathy with spastic paraplegia	Is a	True	Autosomal recessive hereditary spastic paraplegia	Inferred relationship	Existential restriction modifier (core metadata concept)
Autosomal recessive spastic paraplegia type 39	Is a	True	Autosomal recessive hereditary spastic paraplegia	Inferred relationship	Existential restriction modifier (core metadata concept)
Autosomal recessive spastic paraplegia type 44 (SPG44) is a very rare, complex form of hereditary spastic paraplegia characterized by a late-onset, slowly progressive spastic paraplegia associated with mild ataxia and dysarthria, upper extremity involvement (i.e. loss of finger dexterity, dysmetria), and mild cognitive impairment, without the presence of nystagmus. A hypomyelinating leukodystrophy and thin corpus callosum is observed in all cases and psychomotor development is normal or near normal. SPG44 is caused by mutations in the GJC2 gene (1q41-q42) encoding the gap junction gamma-2 protein.	Is a	True	Autosomal recessive hereditary spastic paraplegia	Inferred relationship	Existential restriction modifier (core metadata concept)
Autosomal recessive spastic paraplegia type 46 (SPG46) is a rare, complex type of hereditary spastic paraplegia characterised by an onset, in infancy or childhood, of the typical signs of spastic paraplegia (i.e. spastic gait and weakness of the lower limbs) associated with a variety of additional manifestations including upper limb spasticity and weakness, pseudobulbar dysarthria, bladder dysfunction, cerebellar ataxia, cataracts, and cognitive impairment that can progress to dementia. Brain imaging may show thinning of the corpus callosum and mild atrophy of the cerebrum and cerebellum. SPG46 is due to mutations in the GBA2 gene (9p13.2) encoding non-lysosomal glucosylceramidase.	Is a	True	Autosomal recessive hereditary spastic paraplegia	Inferred relationship	Existential restriction modifier (core metadata concept)
Autosomal recessive spastic paraplegia type 53 (disorder)	Is a	True	Autosomal recessive hereditary spastic paraplegia	Inferred relationship	Existential restriction modifier (core metadata concept)
Autosomal recessive spastic paraplegia type 54 (disorder)	Is a	True	Autosomal recessive hereditary spastic paraplegia	Inferred relationship	Existential restriction modifier (core metadata concept)
Autosomal recessive spastic paraplegia type 32 (disorder)	Is a	True	Autosomal recessive hereditary spastic paraplegia	Inferred relationship	Existential restriction modifier (core metadata concept)
Autosomal recessive spastic paraplegia type 26 (disorder)	Is a	True	Autosomal recessive hereditary spastic paraplegia	Inferred relationship	Existential restriction modifier (core metadata concept)
Autosomal recessive spastic paraplegia type 23	Is a	True	Autosomal recessive hereditary spastic paraplegia	Inferred relationship	Existential restriction modifier (core metadata concept)
Autosomal recessive spastic paraplegia type 64 (disorder)	Is a	True	Autosomal recessive hereditary spastic paraplegia	Inferred relationship	Existential restriction modifier (core metadata concept)
Autosomal recessive spastic paraplegia type 63 (disorder)	Is a	True	Autosomal recessive hereditary spastic paraplegia	Inferred relationship	Existential restriction modifier (core metadata concept)
Autosomal recessive spastic paraplegia type 61	Is a	True	Autosomal recessive hereditary spastic paraplegia	Inferred relationship	Existential restriction modifier (core metadata concept)
Autosomal recessive spastic paraplegia type 18 (disorder)	Is a	True	Autosomal recessive hereditary spastic paraplegia	Inferred relationship	Existential restriction modifier (core metadata concept)
Autosomal recessive spastic paraplegia type 25 (SPG25) is a rare, complex type of hereditary spastic paraplegia characterized by adult-onset spastic paraplegia associated with spinal pain that radiates to the upper or lower limbs and is related to disc herniation (with minor spondylosis), as well as mild sensorimotor neuropathy. The SPG25 phenotype has been mapped to a locus on chromosome 6q23-q24.1.	Is a	True	Autosomal recessive hereditary spastic paraplegia	Inferred relationship	Existential restriction modifier (core metadata concept)
A complex hereditary spastic paraplegia characterised by progressive lower limbs weakness and spasticity, upper limbs weakness, dysarthria, hypomimia, sphincter disturbances, peripheral neuropathy, learning difficulties, cognitive impairment and dementia. Magnetic resonance imaging shows thin corpus callosum, cerebral atrophy, and periventricular white matter changes.	Is a	True	Autosomal recessive hereditary spastic paraplegia	Inferred relationship	Existential restriction modifier (core metadata concept)
Fryns macrocephaly	Is a	True	Autosomal recessive hereditary spastic paraplegia	Inferred relationship	Existential restriction modifier (core metadata concept)
Spastic paraplegia, glaucoma, intellectual disability syndrome (disorder)	Is a	True	Autosomal recessive hereditary spastic paraplegia	Inferred relationship	Existential restriction modifier (core metadata concept)
Severe intellectual disability and progressive spastic paraplegia	Is a	True	Autosomal recessive hereditary spastic paraplegia	Inferred relationship	Existential restriction modifier (core metadata concept)
Autosomal recessive spastic paraplegia type 27	Is a	True	Autosomal recessive hereditary spastic paraplegia	Inferred relationship	Existential restriction modifier (core metadata concept)
Autosomal recessive spastic paraplegia type 69	Is a	True	Autosomal recessive hereditary spastic paraplegia	Inferred relationship	Existential restriction modifier (core metadata concept)
Autosomal recessive spastic paraplegia type 71	Is a	True	Autosomal recessive hereditary spastic paraplegia	Inferred relationship	Existential restriction modifier (core metadata concept)
Autosomal recessive spastic paraplegia type 60 is a rare, complex hereditary spastic paraplegia disorder with characteristics of infantile onset of progressive lower limb spasticity, inability to walk, hypertonia and impaired vibration sense at ankles, with complicating signs including sensory impairment, nystagmus, motor axonal neuropathy and mild intellectual disability.	Is a	True	Autosomal recessive hereditary spastic paraplegia	Inferred relationship	Existential restriction modifier (core metadata concept)
Autosomal recessive spastic paraplegia type 66 is a rare, complex hereditary spastic paraplegia disorder with characteristics of infantile onset of progressive lower limb spasticity, severe gait disturbances leading to a non-ambulatory state, absent deep tendon reflexes and amyotrophy. Additional signs include severe sensorimotor neuropathy, pes equinovarus and mild intellectual disability. Cerebellar and corpus callosum hypoplasia, as well as colpocephaly, are observed on neuroimaging.	Is a	True	Autosomal recessive hereditary spastic paraplegia	Inferred relationship	Existential restriction modifier (core metadata concept)
Autosomal recessive spastic paraplegia type 14	Is a	True	Autosomal recessive hereditary spastic paraplegia	Inferred relationship	Existential restriction modifier (core metadata concept)
Hereditary sensory and autonomic neuropathy due to TECPR2 mutation	Is a	True	Autosomal recessive hereditary spastic paraplegia	Inferred relationship	Existential restriction modifier (core metadata concept)
Autosomal recessive spastic paraplegia type 56 (disorder)	Is a	True	Autosomal recessive hereditary spastic paraplegia	Inferred relationship	Existential restriction modifier (core metadata concept)
Autosomal recessive spastic paraplegia type 24	Is a	True	Autosomal recessive hereditary spastic paraplegia	Inferred relationship	Existential restriction modifier (core metadata concept)
A rare complex hereditary spastic paraplegia characterised by neonatal to infantile onset of progressive spasticity in the lower limbs, hyperreflexia, tip-toe walking, pes equinus, and delayed motor developmental milestones. Kyphoscoliosis becomes evident in older patients, and most patients show atrophy of the lateral aspects of the tongue. Additional signs may include intellectual disability, language impairment, and moderate upper limb involvement.	Is a	True	Autosomal recessive hereditary spastic paraplegia	Inferred relationship	Existential restriction modifier (core metadata concept)
Autosomal recessive spastic paraplegia type 76 is a rare, complex hereditary spastic paraplegia characterized by adult onset slowly progressive, mild to moderate lower limb spasticity and hyperreflexia, resulting in gait disturbances, commonly associated with upper limb hyperreflexia and dysarthria. Foot deformities (usually pes cavus) and extensor plantar responses are also frequent. Additional features may include ataxia, lower limb weakness/amyotrophy, abnormal bladder function, distal sensory loss and mild intellectual deterioration.	Is a	True	Autosomal recessive hereditary spastic paraplegia	Inferred relationship	Existential restriction modifier (core metadata concept)
Postnatal microcephaly, infantile hypotonia, spastic diplegia, dysarthria, intellectual disability syndrome	Is a	True	Autosomal recessive hereditary spastic paraplegia	Inferred relationship	Existential restriction modifier (core metadata concept)
Autosomal recessive spastic paraplegia type 78 (disorder)	Is a	True	Autosomal recessive hereditary spastic paraplegia	Inferred relationship	Existential restriction modifier (core metadata concept)
Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction (disorder)	Is a	True	Autosomal recessive hereditary spastic paraplegia	Inferred relationship	Existential restriction modifier (core metadata concept)
Spastic paraplegia type 7 (disorder)	Is a	True	Autosomal recessive hereditary spastic paraplegia	Inferred relationship	Existential restriction modifier (core metadata concept)
Spastic paraplegia, severe developmental delay, epilepsy syndrome (disorder)	Is a	True	Autosomal recessive hereditary spastic paraplegia	Inferred relationship	Existential restriction modifier (core metadata concept)
Intellectual disability, spasticity, ectrodactyly syndrome	Is a	True	Autosomal recessive hereditary spastic paraplegia	Inferred relationship	Existential restriction modifier (core metadata concept)
A rare complex hereditary spastic paraplegia characterized by early onset of slowly progressive spastic para- or tetraparesis, increased tendon reflexes, positive Babinski sign, global developmental delay, cognitive impairment, and pseudobulbar palsy. Additional manifestations include dysmorphic facial features, tremor, short stature, and urinary incontinence.	Is a	True	Autosomal recessive hereditary spastic paraplegia	Inferred relationship	Existential restriction modifier (core metadata concept)
Autosomal recessive spastic paraplegia type 75	Is a	True	Autosomal recessive hereditary spastic paraplegia	Inferred relationship	Existential restriction modifier (core metadata concept)
Autosomal recessive spastic paraplegia type 77	Is a	True	Autosomal recessive hereditary spastic paraplegia	Inferred relationship	Existential restriction modifier (core metadata concept)

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
4673099011	Autosomal recessive hereditary spastic paraplegia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4673100015	Autosomal recessive hereditary spastic paraplegia (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4673099011	Autosomal recessive hereditary spastic paraplegia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4673100015	Autosomal recessive hereditary spastic paraplegia (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5752011000241111	paraplégie spastique héréditaire autosomique récessive	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5752011000241111	paraplégie spastique héréditaire autosomique récessive	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module