| Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
| A rare complex hereditary spastic paraplegia characterized by adulthood-onset of slowly progressive, bilateral, mainly lower limb spasticity and distal weakness associated with lower limb pain, hyperreflexia, and reduced vibration sense. Axonal neuropathy is frequently observed on electromyography and nerve conduction examination. |
Finding site |
False |
Body structure that includes the hip, thigh, leg, ankle and foot. |
Inferred relationship |
Some |
1 |
| 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. |
Finding site |
False |
Body structure that includes the hip, thigh, leg, ankle and foot. |
Inferred relationship |
Some |
2 |
| A rare, complex hereditary spastic paraplegia disorder characterized by infantile onset of progressive lower limb spasticity, global developmental delay, hyperreflexia, clonus and extensor plantar reflexes, associated with dysarthria, intellectual disability, cataracts and hearing impairment. |
Finding site |
False |
Body structure that includes the hip, thigh, leg, ankle and foot. |
Inferred relationship |
Some |
2 |
| Autosomal recessive spastic paraplegia type 60 is a rare, complex hereditary spastic paraplegia disorder characterized by 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. |
Finding site |
False |
Body structure that includes the hip, thigh, leg, ankle and foot. |
Inferred relationship |
Some |
2 |
| A rare, pure or complex form of hereditary spastic paraplegia, with variable phenotype, typically characterized by childhood-onset of minimally progressive, bilateral, mainly symmetric lower limb spasticity and weakness, associated with pes cavus, scoliosis, sphincter disturbances and/or urinary bladder hyperactivity. Rare additional associated manifestations may include mild intellectual disability, axonal motor neuropathy, and seizures. |
Finding site |
False |
Body structure that includes the hip, thigh, leg, ankle and foot. |
Inferred relationship |
Some |
2 |
| Open wound of lower limb with tendon involvement |
Finding site |
False |
Body structure that includes the hip, thigh, leg, ankle and foot. |
Inferred relationship |
Some |
2 |
| Autosomal recessive spastic paraplegia type 14 is a rare, complex hereditary spastic paraplegia characterized by adulthood-onset of slowly progressive spastic paraplegia of lower limbs presenting with spastic gait, hyperreflexia, and mild lower limb hypertonicity associated with mild intellectual disability, visual agnosia, short and long-term memory deficiency and mild distal motor neuropathy. Bilateral pes cavus and extensor plantar responses are also associated. |
Finding site |
False |
Body structure that includes the hip, thigh, leg, ankle and foot. |
Inferred relationship |
Some |
2 |
| Superficial injury of lower leg with infection (disorder) |
Finding site |
False |
Body structure that includes the hip, thigh, leg, ankle and foot. |
Inferred relationship |
Some |
1 |
| CT of pelvis and lower limb with contrast |
Procedure site - Direct (attribute) |
True |
Body structure that includes the hip, thigh, leg, ankle and foot. |
Inferred relationship |
Some |
2 |
| A rare, pure or complex form of hereditary spastic paraplegia characterized by early adulthood onset of slowly progressive lower limb spasticity resulting in gait disturbances, hyperreflexia and extensor plantar responses, urinary urgency and/or incontinence, muscle weakness, decreased vibration sense and mild muscular atrophy in lower extremities. It may be associated with complicating signs, such as sensory neuropathy, ataxia (i.e. mild dysmetria, uncoordinated eye movement) and mild dysphagia. |
Finding site |
False |
Body structure that includes the hip, thigh, leg, ankle and foot. |
Inferred relationship |
Some |
3 |
| A rare genetic peripheral neuropathy characterized by early hypotonia evolving to spastic paraparesis, areflexia, decreased pain and temperature sensitivity, autonomic neuropathy, gastroesophageal reflux disease, recurrent pneumonia and respiratory problems. Patients also have intellectual disability and dysmorphic features, including mild brachycephalic microcephaly, short broad neck, low anterior hairline and coarse face. |
Finding site |
False |
Body structure that includes the hip, thigh, leg, ankle and foot. |
Inferred relationship |
Some |
2 |
| A rare, complex hereditary spastic paraplegia disorder characterized by 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. |
Finding site |
False |
Body structure that includes the hip, thigh, leg, ankle and foot. |
Inferred relationship |
Some |
2 |
| A complex hereditary spastic paraplegia characterised by mild to severe lower limb spasticity, hyperreflexia, extensor plantar responses, impaired vibration sensation, pes cavus, and significant wasting and weakness of the small hand muscles. Temporal lobe epilepsy and cognitive dysfunction have been also reported. |
Finding site |
False |
Body structure that includes the hip, thigh, leg, ankle and foot. |
Inferred relationship |
Some |
2 |
| 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. |
Finding site |
False |
Body structure that includes the hip, thigh, leg, ankle and foot. |
Inferred relationship |
Some |
2 |
| A very rare, pure form of spastic paraplegia characterized by an onset in infancy of lower limb spasticity associated with gait disturbances, scissor gait, tiptoe walking, clonus and increased deep tendon reflexes. Mild upper limb involvement may occasionally also be associated. |
Finding site |
False |
Body structure that includes the hip, thigh, leg, ankle and foot. |
Inferred relationship |
Some |
2 |
| A type of autosomal recessive pure hereditary spastic paraplegia characterized by infancy onset of crural spastic paraparesis with scissors gait, extensor plantar response, and increased tendon reflexes. Neuroimaging reveals a thin corpus callosum and electromyography and nerve conduction velocity studies are normal. |
Finding site |
False |
Body structure that includes the hip, thigh, leg, ankle and foot. |
Inferred relationship |
Some |
2 |
| A rare autosomal dominant pure hereditary spastic paraplegia characterized by early childhood onset of slowly progressive crural spastic paraparesis presenting with spastic gait, mild stiffness at rest, hyperreflexia (in lower limbs), extensor plantar responses and, in some, mild postural tremor, pes cavus, sphincter disturbances and sensory loss at ankles. |
Finding site |
False |
Body structure that includes the hip, thigh, leg, ankle and foot. |
Inferred relationship |
Some |
2 |
| A complex, hereditary, spastic paraplegia characterized by delayed motor development, spasticity, and inability to walk, later progressing to quadriplegia, motor aphasia, bowel and bladder dysfunction. Patients also present with vision problems and mild intellectual disability. The disease affects only males. |
Finding site |
False |
Body structure that includes the hip, thigh, leg, ankle and foot. |
Inferred relationship |
Some |
2 |
| A rare, pure or complex form of hereditary spastic paraplegia characterized by progressive spastic paraplegia with pyramidal signs in the upper and lower limbs, and decreased vibration sense. |
Finding site |
False |
Body structure that includes the hip, thigh, leg, ankle and foot. |
Inferred relationship |
Some |
2 |
| Ulcer of lower limb due to type 1 diabetes mellitus (disorder) |
Finding site |
True |
Body structure that includes the hip, thigh, leg, ankle and foot. |
Inferred relationship |
Some |
2 |
| Neurofibroma of lower limb |
Finding site |
True |
Body structure that includes the hip, thigh, leg, ankle and foot. |
Inferred relationship |
Some |
1 |
| A group of rare, genetic, neurodegenerative diseases characterized by an infancy- to childhood-onset of progressive spastic paraplegia (with delayed motor milestones, gait disturbances, hyperreflexia and extensor plantar responses), optic atrophy (which may be accompanied by nystagmus and visual loss) and progressive peripheral neuropathy (with sensory impairment and distal muscle weakness/atrophy in upper and lower extremities). Additional signs may include foot deformities, spinal defects (scoliosis, kyphosis), joint contractures, exaggerated startle response, speech disorders, hyperhidrosis, extrapyramidal signs and intellectual disability. In very rare cases, a variant phenotype with less prominent or absent optic atrophy and/or neuropathy may be observed. |
Finding site |
False |
Body structure that includes the hip, thigh, leg, ankle and foot. |
Inferred relationship |
Some |
3 |
| Amputated lower limb (finding) |
Finding site |
True |
Body structure that includes the hip, thigh, leg, ankle and foot. |
Inferred relationship |
Some |
1 |
| Insertion of drain into lower limb using cone beam computed tomography guidance (procedure) |
Procedure site - Direct (attribute) |
True |
Body structure that includes the hip, thigh, leg, ankle and foot. |
Inferred relationship |
Some |
2 |
| Constriction ring syndrome of lower limb with amputation |
Finding site |
True |
Body structure that includes the hip, thigh, leg, ankle and foot. |
Inferred relationship |
Some |
3 |
| Spastic paraplegia-precocious puberty syndrome is a complex form of hereditary spastic paraplegia characterized by the onset of progressive spastic paraplegia associated with precocious puberty (due to Leydig cell hyperplasia) in childhood (at the age of 2 years). Moderate intellectual disability was also reported. There have been no further descriptions in the literature since 1983. |
Finding site |
False |
Body structure that includes the hip, thigh, leg, ankle and foot. |
Inferred relationship |
Some |
2 |
| Chronic neurogenic ulcer of lower limb |
Finding site |
True |
Body structure that includes the hip, thigh, leg, ankle and foot. |
Inferred relationship |
Some |
1 |
| Chronic neurogenic ulcer of lower limb |
Finding site |
True |
Body structure that includes the hip, thigh, leg, ankle and foot. |
Inferred relationship |
Some |
2 |
| Lymphoedematous hyperkeratosis |
Finding site |
True |
Body structure that includes the hip, thigh, leg, ankle and foot. |
Inferred relationship |
Some |
2 |
| Groin mass (finding) |
Finding site |
False |
Body structure that includes the hip, thigh, leg, ankle and foot. |
Inferred relationship |
Some |
3 |
| Crushing injuries involving multiple regions of upper limb(s) with lower limb(s) |
Finding site |
True |
Body structure that includes the hip, thigh, leg, ankle and foot. |
Inferred relationship |
Some |
2 |
| Lower limb of fetus palpable vaginally (finding) |
Finding site |
True |
Body structure that includes the hip, thigh, leg, ankle and foot. |
Inferred relationship |
Some |
1 |
| Sirenomelus (disorder) |
Finding site |
True |
Body structure that includes the hip, thigh, leg, ankle and foot. |
Inferred relationship |
Some |
1 |
| Foreign body in skin of lower limb with infection |
Finding site |
False |
Body structure that includes the hip, thigh, leg, ankle and foot. |
Inferred relationship |
Some |
1 |
| Open wounds involving multiple regions of upper limb(s) with lower limb(s) |
Finding site |
True |
Body structure that includes the hip, thigh, leg, ankle and foot. |
Inferred relationship |
Some |
2 |
| Intrauterine amputation of lower limb |
Finding site |
True |
Body structure that includes the hip, thigh, leg, ankle and foot. |
Inferred relationship |
Some |
1 |
| Limb pain at rest due to atherosclerosis of artery of lower limb |
Finding site |
True |
Body structure that includes the hip, thigh, leg, ankle and foot. |
Inferred relationship |
Some |
1 |
| Fetal sirenomelia |
Finding site |
True |
Body structure that includes the hip, thigh, leg, ankle and foot. |
Inferred relationship |
Some |
1 |
| Endoscopic procedure of lower limb (procedure) |
Procedure site |
True |
Body structure that includes the hip, thigh, leg, ankle and foot. |
Inferred relationship |
Some |
1 |
| Unequal lower limb length due to acquired shortening of left femur (disorder) |
Finding site |
False |
Body structure that includes the hip, thigh, leg, ankle and foot. |
Inferred relationship |
Some |
1 |
| Unequal lower limb length due to acquired shortening of right femur |
Finding site |
False |
Body structure that includes the hip, thigh, leg, ankle and foot. |
Inferred relationship |
Some |
1 |
| Unequal lower limb length due to acquired shortening of left tibia |
Finding site |
False |
Body structure that includes the hip, thigh, leg, ankle and foot. |
Inferred relationship |
Some |
1 |
| Unequal lower limb length due to acquired shortening of right tibia (disorder) |
Finding site |
False |
Body structure that includes the hip, thigh, leg, ankle and foot. |
Inferred relationship |
Some |
1 |
| X-linked complex hereditary spastic paraplegia |
Finding site |
False |
Body structure that includes the hip, thigh, leg, ankle and foot. |
Inferred relationship |
Some |
1 |
| X-linked pure hereditary spastic paraplegia |
Finding site |
False |
Body structure that includes the hip, thigh, leg, ankle and foot. |
Inferred relationship |
Some |
2 |
| Painful legs and moving toes |
Finding site |
True |
Body structure that includes the hip, thigh, leg, ankle and foot. |
Inferred relationship |
Some |
1 |
| Application of hip spica cast |
Procedure site - Indirect (attribute) |
False |
Body structure that includes the hip, thigh, leg, ankle and foot. |
Inferred relationship |
Some |
1 |
| Ober-Yount fasciotomy, combined with spica cast, pins in tibia and wedging the cast |
Procedure site - Indirect (attribute) |
True |
Body structure that includes the hip, thigh, leg, ankle and foot. |
Inferred relationship |
Some |
3 |
| Hodgkin's disease of lymph nodes of inguinal region AND/OR lower limb |
Finding site |
False |
Body structure that includes the hip, thigh, leg, ankle and foot. |
Inferred relationship |
Some |
1 |
| A rare complex hereditary spastic paraplegia characterized 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. |
Finding site |
False |
Body structure that includes the hip, thigh, leg, ankle and foot. |
Inferred relationship |
Some |
3 |
| 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. |
Finding site |
False |
Body structure that includes the hip, thigh, leg, ankle and foot. |
Inferred relationship |
Some |
3 |
| Allan-Herndon-Dudley syndrome |
Finding site |
False |
Body structure that includes the hip, thigh, leg, ankle and foot. |
Inferred relationship |
Some |
3 |
| A rare genetic neurological disorder characterized by postnatal microcephaly, hypotonia during infancy followed in most cases by progressive spasticity mainly affecting the lower limbs, and spastic diplegia or paraplegia, intellectual disability, delayed or absent speech, and dysarthria. Seizures and mildly dysmorphic features have been described in some patients. |
Finding site |
False |
Body structure that includes the hip, thigh, leg, ankle and foot. |
Inferred relationship |
Some |
5 |
| A rare autosomal recessive complex spastic paraplegia characterized by mostly adult-onset progressive spasticity and weakness predominantly affecting the lower limbs, axonal motor and sensory neuropathy, and cerebellar symptoms like ataxia, dysarthria, and oculomotor abnormalities. Variable degrees of cognitive impairment may also be present. Subtle extrapyramidal involvement and supranuclear gaze palsy were reported in some cases. Features on brain imaging include cerebral and cerebellar atrophy and sometimes abnormalities of the corpus callosum or basal ganglia. |
Finding site |
False |
Body structure that includes the hip, thigh, leg, ankle and foot. |
Inferred relationship |
Some |
2 |
| A rare genetic neurological disorder characterized by progressive spastic paraparesis and delayed gross motor development with an onset in infancy or early childhood. Patients also show variable degrees of intellectual disability, speech delay, and dysarthria. Other reported features include microcephaly, seizures, bifid uvula with or without cleft palate, and ocular anomalies. Brain imaging shows white matter abnormalities in the periventricular and other regions. |
Finding site |
False |
Body structure that includes the hip, thigh, leg, ankle and foot. |
Inferred relationship |
Some |
3 |
| Drainage of lower limb using computed tomography guidance (procedure) |
Procedure site - Direct (attribute) |
True |
Body structure that includes the hip, thigh, leg, ankle and foot. |
Inferred relationship |
Some |
1 |
| Autosomal recessive spastic paraplegia type 74 is a rare, genetic, spastic paraplegia-optic atrophy-neuropathy-related (SPOAN-like) disorder characterized by childhood onset of mild to moderate spastic paraparesis which manifests with gait impairment that very slowly progresses into late adulthood, hyperactive patellar reflex and bilateral extensor plantar response, in association with optic atrophy and typical symptoms of peripheral neuropathy, including reduced or absent ankle reflexes, lower limb atrophy and distal sensory impairment. Reduced visual acuity and pes cavus are frequently reported. |
Finding site |
False |
Body structure that includes the hip, thigh, leg, ankle and foot. |
Inferred relationship |
Some |
4 |
| Spastic paraplegia-severe developmental delay-epilepsy syndrome is a rare, genetic, complex spastic paraplegia disorder characterized by an infantile-onset of psychomotor developmental delay with severe intellectual disability and poor speech acquisition, associated with seizures (mostly myoclonic), muscular hypotonia which may be noted at birth, and slowly progressive spasticity in the lower limbs leading to severe gait disturbances. Ocular abnormalities and incontinence are commonly associated. Other symptoms may include verbal dyspraxia, hypogenitalism, macrocephaly and sensorineural hearing loss, as well as dystonic movements and ataxia with upper limb involvement. |
Finding site |
False |
Body structure that includes the hip, thigh, leg, ankle and foot. |
Inferred relationship |
Some |
5 |
| X-linked hereditary spastic paraplegia (disorder) |
Finding site |
False |
Body structure that includes the hip, thigh, leg, ankle and foot. |
Inferred relationship |
Some |
3 |
| Autosomal recessive hereditary spastic paraplegia |
Finding site |
False |
Body structure that includes the hip, thigh, leg, ankle and foot. |
Inferred relationship |
Some |
3 |
| Complicated hereditary spastic paraplegia |
Finding site |
False |
Body structure that includes the hip, thigh, leg, ankle and foot. |
Inferred relationship |
Some |
3 |
| 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. |
Finding site |
False |
Body structure that includes the hip, thigh, leg, ankle and foot. |
Inferred relationship |
Some |
3 |
| 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. |
Finding site |
False |
Body structure that includes the hip, thigh, leg, ankle and foot. |
Inferred relationship |
Some |
3 |
| 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. |
Finding site |
False |
Body structure that includes the hip, thigh, leg, ankle and foot. |
Inferred relationship |
Some |
3 |
| 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. |
Finding site |
False |
Body structure that includes the hip, thigh, leg, ankle and foot. |
Inferred relationship |
Some |
3 |
| 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. |
Finding site |
False |
Body structure that includes the hip, thigh, leg, ankle and foot. |
Inferred relationship |
Some |
3 |
| 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. |
Finding site |
False |
Body structure that includes the hip, thigh, leg, ankle and foot. |
Inferred relationship |
Some |
3 |
| A rare genetic neurological disorder characterized by infantile to childhood onset of progressive sensory neuropathy in association with spastic paraplegia and mutilating acropathy. Patients present lower limb spasticity and progressive severe sensory loss leading to chronic ulcerations in both upper and lower limbs. Electrophysiological studies are consistent with axonal sensory neuropathy, and nerve biopsy shows axonopathy with loss of myelinated nerve fibers of all diameters as well as of unmyelinated axons. |
Finding site |
False |
Body structure that includes the hip, thigh, leg, ankle and foot. |
Inferred relationship |
Some |
1 |
| Spastic paraplegia-Paget disease of bone syndrome is an extremely rare, complex form of hereditary spastic paraplegia characterized by a slowly progressive spastic paraplegia (with increased muscle tone, decreased strength in the anterior tibial muscles and hyperreflexia in the lower extremities with Babinski sign) presenting in adulthood, associated with Paget disease of the bone. Cognitive decline, dementia and myopathic changes at muscle biopsy have not been reported. |
Finding site |
False |
Body structure that includes the hip, thigh, leg, ankle and foot. |
Inferred relationship |
Some |
1 |
| 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. |
Finding site |
False |
Body structure that includes the hip, thigh, leg, ankle and foot. |
Inferred relationship |
Some |
3 |
| A rare genetic neurological disorder characterized by progressive spastic paraparesis and delayed gross motor development with an onset in infancy or early childhood. Patients also show variable degrees of intellectual disability, speech delay, and dysarthria. Other reported features include microcephaly, seizures, bifid uvula with or without cleft palate, and ocular anomalies. Brain imaging shows white matter abnormalities in the periventricular and other regions. |
Finding site |
False |
Body structure that includes the hip, thigh, leg, ankle and foot. |
Inferred relationship |
Some |
2 |
| Allan-Herndon-Dudley syndrome |
Finding site |
False |
Body structure that includes the hip, thigh, leg, ankle and foot. |
Inferred relationship |
Some |
6 |
| 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. |
Finding site |
False |
Body structure that includes the hip, thigh, leg, ankle and foot. |
Inferred relationship |
Some |
4 |
| X-linked complex hereditary spastic paraplegia |
Finding site |
False |
Body structure that includes the hip, thigh, leg, ankle and foot. |
Inferred relationship |
Some |
2 |
| Autosomal recessive spastic paraplegia type 55 (SPG 55) is a rare, complex type of hereditary spastic paraplegia characterized by childhood onset of progressive spastic paraplegia associated with optic atrophy (with reduced visual acuity and central scotoma), ophthalmoplegia, reduced upper-extremity strength and dexterity, muscular atrophy in the lower extremities, and sensorimotor neuropathy. SPG55 is caused by mutations in the C12ORF65 gene (12q24.31) encoding probable peptide chain release factor C12orf65, mitochondrial. |
Finding site |
False |
Body structure that includes the hip, thigh, leg, ankle and foot. |
Inferred relationship |
Some |
3 |
| Autosomal recessive spastic paraplegia type 57 (SPG57) is an extremely rare, complex type of hereditary spastic paraplegia, characterized by onset in infancy of pronounced leg spasticity (leading to the inability to walk independently), reduced visual acuity due to optic atrophy, and distal wasting of the hands and feet due to an axonal demyelinating sensorimotor neuropathy. SPG57 is caused by mutations in the TFG gene (3q12.2) encoding protein TFG, which is thought to play a role in ER microtubular architecture and function. |
Finding site |
False |
Body structure that includes the hip, thigh, leg, ankle and foot. |
Inferred relationship |
Some |
3 |
| A rare, complex type of hereditary spastic paraplegia characterized by early-onset progressive spastic paraplegia presenting in infancy, associated with optic atrophy, fixation nystagmus, polyneuropathy occurring in late childhood/early adolescence leading to severe motor disability and progressive joint contractures and scoliosis. |
Finding site |
False |
Body structure that includes the hip, thigh, leg, ankle and foot. |
Inferred relationship |
Some |
3 |
| A rare complex hereditary spastic paraplegia characterized by adulthood-onset of slowly progressive, bilateral, mainly lower limb spasticity and distal weakness associated with lower limb pain, hyperreflexia, and reduced vibration sense. Axonal neuropathy is frequently observed on electromyography and nerve conduction examination. |
Finding site |
False |
Body structure that includes the hip, thigh, leg, ankle and foot. |
Inferred relationship |
Some |
2 |
| A pure form of hereditary spastic paraplegia characterized by a childhood- to adulthood-onset of slowly progressive lower limb spasticity and hyperreflexia of lower extremities, extensor plantar reflexes, distal sensory impairment, variable urinary dysfunction and pes cavus. |
Finding site |
False |
Body structure that includes the hip, thigh, leg, ankle and foot. |
Inferred relationship |
Some |
2 |
| A pure form of hereditary spastic paraplegia characterized by a slowly progressive and relatively benign spastic paraplegia presenting in adulthood with spastic gait, lower limb hyperreflexia, extensor plantar responses, bladder dysfunction (urinary urgency and/or incontinence), and mild sensory and motor peripheral neuropathy. |
Finding site |
False |
Body structure that includes the hip, thigh, leg, ankle and foot. |
Inferred relationship |
Some |
2 |
| Autosomal recessive spastic paraplegia type 28 is a pure form of hereditary spastic paraplegia characterized by a childhood or adolescent onset of slowly progressive, pure crural muscle spastic paraparesis which manifests with mild lower limb weakness, gait difficulties, extensor plantar responses, and hyperreflexia of lower extremities. Less common manifestations include cerebellar oculomotor disturbance with saccadic eye pursuit, pes cavus and scoliosis. Some patients also present pin and vibration sensory loss in distal legs. |
Finding site |
False |
Body structure that includes the hip, thigh, leg, ankle and foot. |
Inferred relationship |
Some |
2 |
| A complex form of hereditary spastic paraplegia characterized by delays in motor development followed by a slowly progressive spastic paraplegia (affecting mainly lower extremities) associated with a desquamating facial rash with butterfly distribution (presenting at around two months of age) and dysarthria. There have been no further descriptions in the literature since 1982. |
Finding site |
False |
Body structure that includes the hip, thigh, leg, ankle and foot. |
Inferred relationship |
Some |
2 |
| A rare type of hereditary spastic paraplegia usually characterized by a pure phenotype of proximal weakness of the lower extremities with spastic gait and brisk reflexes, with a bimodal age of onset of either childhood or adulthood (>30 years). In some cases, it can present as a complex phenotype with additional associated manifestations including peripheral neuropathy, bulbar palsy (with dysarthria and dysphagia), distal amyotrophy, and impaired distal vibration sense. |
Finding site |
False |
Body structure that includes the hip, thigh, leg, ankle and foot. |
Inferred relationship |
Some |
2 |
| A pure form of hereditary spastic paraplegia characterized by slowly progressive spastic paraplegia of lower extremities with an age of onset ranging from childhood to adulthood and patients presenting with spastic gait, increased tendon reflexes in lower limbs, extensor plantar response, weakness and atrophy of lower limb muscles and, in rare cases, pes cavus. No abnormalities are noted on magnetic resonance imaging. |
Finding site |
False |
Body structure that includes the hip, thigh, leg, ankle and foot. |
Inferred relationship |
Some |
2 |
| A pure form of hereditary spastic paraplegia characterized by a childhood- to adulthood-onset of slowly progressive spastic gait, extensor plantar responses, brisk tendon reflexes in arms and legs, decreased vibration sense at ankles and urinary dysfunction. Ankle clonus is also reported in some patients. |
Finding site |
False |
Body structure that includes the hip, thigh, leg, ankle and foot. |
Inferred relationship |
Some |
2 |
| Spastic paraplegia-glaucoma-intellectual disability syndrome is characterized by progressive spastic paraplegia, glaucoma and intellectual deficit. It has been described in two families. The second described sibship was born to consanguineous parents. The mode of inheritance is autosomal recessive. |
Finding site |
False |
Body structure that includes the hip, thigh, leg, ankle and foot. |
Inferred relationship |
Some |
2 |
| Spastic paraplegia-precocious puberty syndrome is a complex form of hereditary spastic paraplegia characterized by the onset of progressive spastic paraplegia associated with precocious puberty (due to Leydig cell hyperplasia) in childhood (at the age of 2 years). Moderate intellectual disability was also reported. There have been no further descriptions in the literature since 1983. |
Finding site |
False |
Body structure that includes the hip, thigh, leg, ankle and foot. |
Inferred relationship |
Some |
3 |
| Spastic paraplegia-nephritis-deafness syndrome is a complex form of hereditary spastic paraplegia characterized by progressive, variable spastic paraplegia associated with bilateral sensorineural deafness, intellectual disability, and progressive nephropathy. There have been no further descriptions in the literature since 1988. |
Finding site |
False |
Body structure that includes the hip, thigh, leg, ankle and foot. |
Inferred relationship |
Some |
2 |
| Intellectual disability-spasticity-ectrodactyly syndrome is a rare intellectual disability syndrome characterized by severe intellectual disability, spastic paraplegia (with wasting of the lower limbs) and distal transverse defects of the limbs (e.g. ectrodactyly, syndactyly, clinodactyly of the hands and/or feet). |
Finding site |
False |
Body structure that includes the hip, thigh, leg, ankle and foot. |
Inferred relationship |
Some |
4 |
| A rare complex hereditary spastic paraplegia characterized by juvenile to adult onset of slowly progressive spasticity mainly affecting the lower limbs, associated with spastic dysarthria and motor neuropathy. Additional manifestations include congenital bilateral cataract, gastroesophageal reflux, persistent vomiting, mild cerebellar signs, pes cavus, and occasionally short stature, among others. |
Finding site |
False |
Body structure that includes the hip, thigh, leg, ankle and foot. |
Inferred relationship |
Some |
3 |
| A rare predominantly pure hereditary spastic paraplegia characterized by juvenile or adult onset of slowly progressive spastic paraparesis, gait disturbances, and increased tendon reflexes. Additional variable manifestations include pes cavus, dysarthria, sensory impairment, and urinary symptoms. Cognition is normal. |
Finding site |
False |
Body structure that includes the hip, thigh, leg, ankle and foot. |
Inferred relationship |
Some |
3 |
| 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. |
Finding site |
False |
Body structure that includes the hip, thigh, leg, ankle and foot. |
Inferred relationship |
Some |
3 |
| A pure form of hereditary spastic paraplegia characterized by adult onset of crural spastic paraparesis, hyperreflexia, extensor plantar responses, proximal muscle weakness, mild muscle atrophy, decreased vibration sensation at ankles, and mild urinary dysfunction. Foot deformities have been reported to eventually occur in some patients. No abnormalities are noted on brain magnetic resonance imaging and peripheral nerve conduction velocity studies. |
Finding site |
False |
Body structure that includes the hip, thigh, leg, ankle and foot. |
Inferred relationship |
Some |
3 |
| A rare, complex hereditary spastic paraplegia characterized by an early onset and slow progression of spastic paraplegia associated with cerebellar signs, nystagmus, peripheral neuropathy, extensor plantar responses and borderline to mild intellectual disability. Additional features of hypo- or areflexia, mild upper limb involvement and significant visual impairment (optic atrophy, vision loss, astigmatism) have been reported. |
Finding site |
False |
Body structure that includes the hip, thigh, leg, ankle and foot. |
Inferred relationship |
Some |
3 |
| Autosomal recessive spastic paraplegia type 77 is a rare, pure or complex hereditary spastic paraplegia characterized by an infancy to childhood onset of slowly progressive lower limb spasticity, delayed motor milestones, gait disturbances, hyperreflexia and various muscle abnormalities, including weakness, hypotonia, intention tremor and amyotrophy. Ocular abnormalities (e.g. strabismus, ptosis) and other neurological abnormalities, such as dysarthria, seizures and extensor plantar responses, may also be associated. |
Finding site |
False |
Body structure that includes the hip, thigh, leg, ankle and foot. |
Inferred relationship |
Some |
3 |
| Transplantation of muscle flap to lower extremity (procedure) |
Procedure site - Direct (attribute) |
True |
Body structure that includes the hip, thigh, leg, ankle and foot. |
Inferred relationship |
Some |
1 |
| A rare genetic disease characterised by choanal atresia and early onset of lymphoedema of the lower extremities. Additional reported features include facial dysmorphism (hypertelorism, broad forehead, smooth philtrum, unilateral low-set ear, and high-arched palate), hypoplastic nipples, and pectus excavatum. |
Finding site |
True |
Body structure that includes the hip, thigh, leg, ankle and foot. |
Inferred relationship |
Some |
1 |
| Multiple injuries of lower limb |
Finding site |
True |
Body structure that includes the hip, thigh, leg, ankle and foot. |
Inferred relationship |
Some |
1 |
| Unequal lower limb length due to acquired shortening of left fibula |
Finding site |
False |
Body structure that includes the hip, thigh, leg, ankle and foot. |
Inferred relationship |
Some |
1 |
| Unequal lower limb length due to acquired shortening of right fibula (disorder) |
Finding site |
False |
Body structure that includes the hip, thigh, leg, ankle and foot. |
Inferred relationship |
Some |
1 |
| Congenital deformity of lower limb (disorder) |
Finding site |
True |
Body structure that includes the hip, thigh, leg, ankle and foot. |
Inferred relationship |
Some |
1 |
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