| Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
| 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. |
Finding site |
True |
Spinal cord structure |
Inferred relationship |
Some |
1 |
| 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 |
Spinal cord structure |
Inferred relationship |
Some |
1 |
| A complex form of hereditary spastic paraplegia characterized by a spastic paraplegia presenting in adolescence, associated with the additional manifestations of sensorial hearing impairment due to auditory neuropathy and persistent vomiting due to a hiatal or paraesophageal hernia. |
Finding site |
False |
Spinal cord structure |
Inferred relationship |
Some |
1 |
| 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 |
True |
Spinal cord structure |
Inferred relationship |
Some |
1 |
| 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 |
Spinal cord structure |
Inferred relationship |
Some |
1 |
| Myelopathy due to spinal cord compression |
Finding site |
True |
Spinal cord structure |
Inferred relationship |
Some |
1 |
| Autosomal dominant hereditary spastic paraplegia |
Finding site |
False |
Spinal cord structure |
Inferred relationship |
Some |
2 |
| Percutaneous needle biopsy of cyst of spinal cord using computed tomography guidance (procedure) |
Procedure site - Direct (attribute) |
True |
Spinal cord structure |
Inferred relationship |
Some |
2 |
| Percutaneous needle biopsy of cyst of spinal cord using computed tomography guidance (procedure) |
Procedure site - Direct (attribute) |
False |
Spinal cord structure |
Inferred relationship |
Some |
3 |
| Complete spinal cord injury (disorder) |
Finding site |
True |
Spinal cord structure |
Inferred relationship |
Some |
1 |
| Incomplete spinal cord injury |
Finding site |
True |
Spinal cord structure |
Inferred relationship |
Some |
1 |
| Myelopathy due to toxicity of substance |
Finding site |
True |
Spinal cord structure |
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 |
Spinal cord structure |
Inferred relationship |
Some |
2 |
| 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 |
Spinal cord structure |
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 |
Spinal cord structure |
Inferred relationship |
Some |
2 |
| 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 |
Spinal cord structure |
Inferred relationship |
Some |
2 |
| 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 |
Spinal cord structure |
Inferred relationship |
Some |
2 |
| Autosomal recessive spastic paraplegia type 43 is a rare, complex hereditary spastic paraplegia characterized by a childhood to adolescent onset of progressive lower limb spasticity, associated with mild to severe gait disturbances, extensor plantar responses, muscle weakness and severe distal atrophy, frequently with upper limb involvement. Additional features may include joint contractures, distal sensory loss and brisk or absent deep tendon reflexes. Other signs, such as depression, memory loss, optic atrophy (with vision loss) and brain iron deposition (revealed by brain imagery), have also been reported. |
Finding site |
True |
Spinal cord structure |
Inferred relationship |
Some |
1 |
| Spinocerebellar ataxia with axonal neuropathy type 1 is a rare, genetic neurological disorder characterized by a late childhood onset of slowly progressive cerebellar ataxia. Initial manifestations include weakness and atrophy of distal limb muscles, areflexia and loss of pain, vibration and touch sensations in upper and lower extremities. Gaze nystagmus, cerebellar dysarthria, peripheral neuropathy, steppage gait and pes cavus develop as disease progresses. Cerebellar atrophy (especially of the vermis) is present in all affected individuals. Additional reported manifestations include seizures, mild brain atrophy, mild hypercholesterolemia and borderline hypoalbuminemia. |
Finding site |
False |
Spinal cord structure |
Inferred relationship |
Some |
1 |
| 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 |
True |
Spinal cord structure |
Inferred relationship |
Some |
1 |
| Autosomal recessive spastic paraplegia type 21 is a complex type of hereditary spastic paraplegia characterized by an onset in adolescence or adulthood of slowly progressive spastic paraparesis associated with the additional manifestations of apraxia, cognitive and speech decline (leading to dementia and akinetic mutism in some cases), personality disturbances and extrapyramidal (e.g. oromandibular dyskinesia, rigidity) and cerebellar (i.e. dysdiadochokinesia and incoordination) signs. Subtle abnormalities (e.g. developmental delays) may be noted earlier in childhood. A thin corpus callosum and white matter abnormalities are equally reported on magnetic resonance imaging. |
Finding site |
True |
Spinal cord structure |
Inferred relationship |
Some |
1 |
| Radiation myelitis is a rare neurological disease characterized by the development of paresthesias, as well as, in severe cases, progressive paresis and paralysis following irradiation of tumors in which the spinal cord is included within the radiation field. Symptoms may develop months or years after radiation therapy was administered. |
Finding site |
True |
Spinal cord structure |
Inferred relationship |
Some |
1 |
| 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 |
Spinal cord structure |
Inferred relationship |
Some |
2 |
| A complex form of hereditary spastic paraplegia characterized by spastic paraplegia, demyelinating peripheral sensorimotor neuropathy, poikiloderma (manifesting with loss of eyebrows and eyelashes in childhood in addition to delicate, smooth, and wasted skin) and distal amyotrophy (presenting after puberty). There have been no further descriptions in the literature since 1992. |
Finding site |
True |
Spinal cord structure |
Inferred relationship |
Some |
1 |
| X-linked spastic paraplegia type 34 is a pure form of hereditary spastic paraplegia characterized by late childhood- to early adulthood-onset of slowly progressive spastic paraplegia with spastic gait and lower limb hyperreflexia, brisk tendon reflexes and ankle clonus. Lower limb pain and reduced lower limb vibratory sense is also reported in some older adult patients. |
Finding site |
True |
Spinal cord structure |
Inferred relationship |
Some |
1 |
| Autosomal recessive spastic paraplegia type 15 is a complex form of hereditary spastic paraplegia characterized by a childhood to adulthood onset of slowly progressive lower limb spasticity (resulting in gait disturbance, extensor plantar responses and decreased vibration sense) associated with mild intellectual disability, mild cerebellar ataxia, peripheral neuropathy (with distal upper limb amyotrophy) and retinal degeneration. Thin corpus callosum is a common imaging finding. |
Finding site |
True |
Spinal cord structure |
Inferred relationship |
Some |
1 |
| 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 |
True |
Spinal cord structure |
Inferred relationship |
Some |
1 |
| A pure form of hereditary spastic paraplegia characterized by onset in adolescence or early adulthood of slowly progressive spastic paraplegia, proximal muscle weakness of the lower extremities and small hand muscles, hyperreflexia, spastic gait and mild urinary compromise. |
Finding site |
True |
Spinal cord structure |
Inferred relationship |
Some |
1 |
| 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 |
Spinal cord structure |
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 |
Spinal cord structure |
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 |
Spinal cord structure |
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 |
Spinal cord structure |
Inferred relationship |
Some |
2 |
| 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 |
True |
Spinal cord structure |
Inferred relationship |
Some |
1 |
| Autosomal recessive spastic paraplegia type 67 is an extremely rare, complex hereditary spastic paraplegia characterized by an infancy or childhood onset of global developmental delay and progressive spasticity with tremor in the distal limbs, increased deep tendon reflexes and extensor plantar responses, which may be associated with mild intellectual disability. Additional features include muscle wasting and cerebellar abnormalities. |
Finding site |
True |
Spinal cord structure |
Inferred relationship |
Some |
1 |
| syndrome d'occlusion de l'artère spinale antérieure |
Finding site |
False |
Spinal cord structure |
Inferred relationship |
Some |
1 |
| Spinal cord injury due to birth trauma (disorder) |
Finding site |
True |
Spinal cord structure |
Inferred relationship |
Some |
1 |
| Primary tethered cord syndrome is a genetic, non-syndromic congenital malformation of the neurenteric canal, spinal cord and column characterized by progressive neurologic deterioration (pain, sensorimotor deficits, abnormal gait, decreased tone or abnormal reflexes), musculoskeletal changes (foot deformities and asymmetry, muscle atrophy, limb weakness and numbness, gait disturbances, scoliosis) and/or genitourinary manifestations (bladder and bowel dysfunction). Midline cutaneous stigmata in the lumbosacral region, such as tufts of hair, skin appendages, dimples, subcutaneous lipomas, skin discoloration or hemangiomas, are frequently associated. |
Finding site |
True |
Spinal cord structure |
Inferred relationship |
Some |
1 |
| Secondary syringomyelia is a rare medullar disease defined as a development of a fluid-filled cavity or syrinx within the spinal cord due to blockage of CSF circulation (e.g., due to basal arachnoiditis, meningeal carcinomatosis, various mass lesions), spinal cord injury (e.g., due to trauma, radiation necrosis, hemorrhage, spinal abscess), spinal dysraphism or intramedullary tumors. It presents with neuropathic pain, numbness, muscular weakness, changes in tone or spasticity or autonomic changes (hyperhidrosis, heart rate or blood pressure instability). Selective loss of pain and temperature with relative preservation of dorsal column function (touch and pressure) are classic findings. |
Finding site |
True |
Spinal cord structure |
Inferred relationship |
Some |
1 |
| A complex hereditary spastic paraplegia characterised by progressive spastic paraplegia, upper and lower limb muscle atrophy, hyperreflexia, extensor plantar responses, pes cavus and occasionally impaired vibration sense. Association with hand muscles amyotrophy is typical. |
Finding site |
True |
Spinal cord structure |
Inferred relationship |
Some |
1 |
| A rare, complex subtype of hereditary spastic paraplegia characterized by variable onset of slowly progressive lower limb spasticity and weakness and prominent cerebellar ataxia, associated with gait disturbances, dysarthria, increased deep tendon reflexes and extensor plantar responses. Additional features may include involuntary movements (i.e. clonus, tremor, fasciculations, chorea), decreased vibration sense, oculomotor abnormalities (e.g. nystagmus) and distal amyotrophy in the upper and lower limbs. |
Finding site |
True |
Spinal cord structure |
Inferred relationship |
Some |
1 |
| Autosomal recessive spastic paraplegia type 70 is a very rare, complex subtype of hereditary spastic paraplegia that presents in infancy with delayed motor development (i.e. crawling, walking) and is characterized by lower limb spasticity, increased deep tendon reflexes, extensor plantar responses, impaired vibratory sensation at ankles, amyotrophy and borderline intellectual disability. Additional signs may include gait disturbances, Achilles tendon contractures, scoliosis and cerebellar abnormalities. |
Finding site |
True |
Spinal cord structure |
Inferred relationship |
Some |
1 |
| Holoprosencephaly-caudal dysgenesis syndrome is a central nervous system malformation syndrome characterized by holoprosencephaly with microcephaly, abnormal eye morphology (hypotelorism, cyclopia, exophthalmos), nasal anomalies (single nostril or absent nose), and cleft lip/palate, combined with signs of caudal regression (sacral agenesis, sirenomelia with absent external genitalia). |
Finding site |
True |
Spinal cord structure |
Inferred relationship |
Some |
1 |
| Tuberculoma of spinal cord confirmed |
Finding site |
True |
Spinal cord structure |
Inferred relationship |
Some |
1 |
| Split spinal cord malformation (disorder) |
Finding site |
True |
Spinal cord structure |
Inferred relationship |
Some |
1 |
| Spinal hamartoma |
Finding site |
True |
Spinal cord structure |
Inferred relationship |
Some |
1 |
| Rachischisis is a neural tube defect, which occurs when the neural folds do not join at the midline and the undifferentiated neuroectoderm remains exposed. |
Finding site |
True |
Spinal cord structure |
Inferred relationship |
Some |
1 |
| Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome is a rare hereditary spastic ataxia disorder characterized by childhood onset of slowly progressive lower limb spastic paraparesis and cerebellar ataxia (with dysarthria, swallowing difficulties, motor degeneration), associated with sensorimotor neuropathy (including muscle weakness and distal amyotrophy in lower extremities) and progressive myoclonic epilepsy. Ocular signs (ptosis, oculomotor apraxia), dysmetria, dysdiadochokinesia, dystonic movements and myoclonus may also be associated. |
Finding site |
True |
Spinal cord structure |
Inferred relationship |
Some |
2 |
| Myeloschisis |
Finding site |
True |
Spinal cord structure |
Inferred relationship |
Some |
2 |
| A rare hereditary ataxia characterized by unusual facies (i.e. gross, rough and abundant hair, mild palpebral ptosis, thick lips, and down-curved corners of the mouth), dysarthria, delayed psychomotor development, scoliosis, foot deformities, and ataxia. There have been no further descriptions in the literature since 1985. |
Finding site |
True |
Spinal cord structure |
Inferred relationship |
Some |
4 |
| Myelomeningocele co-occurrent with hydrocephalus (disorder) |
Finding site |
False |
Spinal cord structure |
Inferred relationship |
Some |
4 |
| Anterior cord syndrome of thoracic spinal cord (disorder) |
Finding site |
False |
Spinal cord structure |
Inferred relationship |
Some |
2 |
| Anterior cord syndrome due to injury at T7-T12 level |
Finding site |
False |
Spinal cord structure |
Inferred relationship |
Some |
2 |
| Anterior cervical spinal cord injury, without spinal bone injury, C5-7 (disorder) |
Finding site |
False |
Spinal cord structure |
Inferred relationship |
Some |
1 |
| Anterior cord syndrome due to open fracture of C5-C7 level (disorder) |
Finding site |
False |
Spinal cord structure |
Inferred relationship |
Some |
3 |
| Anterior cord syndrome due to closed fracture of C5-C7 level (disorder) |
Finding site |
False |
Spinal cord structure |
Inferred relationship |
Some |
3 |
| Anterior cord syndrome due to closed fracture of C1-C4 level |
Finding site |
False |
Spinal cord structure |
Inferred relationship |
Some |
3 |
| Anterior cord syndrome due to open fracture of C1-C4 level |
Finding site |
False |
Spinal cord structure |
Inferred relationship |
Some |
3 |
| Anterior cord syndrome of cervical spinal cord (disorder) |
Finding site |
False |
Spinal cord structure |
Inferred relationship |
Some |
2 |
| Anterior cord syndrome of lumbar spinal cord (disorder) |
Finding site |
False |
Spinal cord structure |
Inferred relationship |
Some |
2 |
| Anterior cord syndrome due to open fracture of T1-T6 level (disorder) |
Finding site |
False |
Spinal cord structure |
Inferred relationship |
Some |
3 |
| Anterior cord syndrome due to closed fracture of T1-T6 level (disorder) |
Finding site |
False |
Spinal cord structure |
Inferred relationship |
Some |
3 |
| Anterior cord syndrome of spinal cord at third cervical level (disorder) |
Finding site |
False |
Spinal cord structure |
Inferred relationship |
Some |
3 |
| Anterior cord syndrome of spinal cord at second thoracic level (disorder) |
Finding site |
False |
Spinal cord structure |
Inferred relationship |
Some |
3 |
| Anterior cord syndrome of spinal cord at third thoracic level (disorder) |
Finding site |
False |
Spinal cord structure |
Inferred relationship |
Some |
3 |
| Anterior cord syndrome of spinal cord at fifth cervical level (disorder) |
Finding site |
False |
Spinal cord structure |
Inferred relationship |
Some |
3 |
| Anterior cord syndrome of lumbar spinal cord at L5 level |
Finding site |
False |
Spinal cord structure |
Inferred relationship |
Some |
3 |
| Anterior cord syndrome of thoracic spinal cord at T12 level |
Finding site |
False |
Spinal cord structure |
Inferred relationship |
Some |
3 |
| Anterior cord syndrome of spinal cord at fourth thoracic level (disorder) |
Finding site |
False |
Spinal cord structure |
Inferred relationship |
Some |
3 |
| Anterior cord syndrome of thoracic spinal cord at T5 level |
Finding site |
False |
Spinal cord structure |
Inferred relationship |
Some |
3 |
| Anterior cord syndrome of spinal cord at seventh thoracic level (disorder) |
Finding site |
False |
Spinal cord structure |
Inferred relationship |
Some |
3 |
| Anterior cord syndrome of spinal cord at eighth thoracic level (disorder) |
Finding site |
False |
Spinal cord structure |
Inferred relationship |
Some |
3 |
| Anterior cord syndrome of spinal cord at ninth thoracic level (disorder) |
Finding site |
False |
Spinal cord structure |
Inferred relationship |
Some |
3 |
| Anterior cord syndrome of spinal cord at eighth cervical level (disorder) |
Finding site |
False |
Spinal cord structure |
Inferred relationship |
Some |
3 |
| Anterior cord syndrome of thoracic spinal cord at T10 level |
Finding site |
False |
Spinal cord structure |
Inferred relationship |
Some |
3 |
| Anterior cord syndrome of thoracic spinal cord at T11 level |
Finding site |
False |
Spinal cord structure |
Inferred relationship |
Some |
3 |
| Anterior cord syndrome of thoracic spinal cord at T1 level |
Finding site |
False |
Spinal cord structure |
Inferred relationship |
Some |
3 |
| Anterior cord syndrome due to closed fracture of T7-T12 level |
Finding site |
False |
Spinal cord structure |
Inferred relationship |
Some |
4 |
| Anterior thoracic cord injury, without bony injury, T7-12 |
Finding site |
False |
Spinal cord structure |
Inferred relationship |
Some |
3 |
| Anterior cord syndrome of spinal cord at first cervical level (disorder) |
Finding site |
False |
Spinal cord structure |
Inferred relationship |
Some |
3 |
| Anterior cord syndrome of lumbar spinal cord at L1 level |
Finding site |
False |
Spinal cord structure |
Inferred relationship |
Some |
3 |
| Anterior cord syndrome of spinal cord at sixth thoracic level (disorder) |
Finding site |
False |
Spinal cord structure |
Inferred relationship |
Some |
3 |
| Anterior cord syndrome of spinal cord at second cervical level (disorder) |
Finding site |
False |
Spinal cord structure |
Inferred relationship |
Some |
3 |
| Anterior cord syndrome of spinal cord at second lumbar level (disorder) |
Finding site |
False |
Spinal cord structure |
Inferred relationship |
Some |
3 |
| Anterior cord syndrome of spinal cord at third lumbar level (disorder) |
Finding site |
False |
Spinal cord structure |
Inferred relationship |
Some |
3 |
| Anterior cord syndrome due to open fracture of T7-T12 level (disorder) |
Finding site |
False |
Spinal cord structure |
Inferred relationship |
Some |
4 |
| Anterior cord syndrome of spinal cord at fourth cervical level (disorder) |
Finding site |
False |
Spinal cord structure |
Inferred relationship |
Some |
3 |
| Anterior cord syndrome of lumbar spinal cord at L4 level |
Finding site |
False |
Spinal cord structure |
Inferred relationship |
Some |
3 |
| Diplomyelia |
Finding site |
True |
Spinal cord structure |
Inferred relationship |
Some |
1 |
| Anterior cord syndrome of spinal cord at sixth cervical level (disorder) |
Finding site |
False |
Spinal cord structure |
Inferred relationship |
Some |
3 |
| Anterior cord syndrome of spinal cord at seventh cervical level (disorder) |
Finding site |
False |
Spinal cord structure |
Inferred relationship |
Some |
3 |
| Sacral spina bifida with hydrocephalus - open |
Finding site |
False |
Spinal cord structure |
Inferred relationship |
Some |
2 |
| Lumbar spina bifida with hydrocephalus - open |
Finding site |
False |
Spinal cord structure |
Inferred relationship |
Some |
2 |
| Benign neoplasm of extramedullary spinal cord (disorder) |
Finding site |
True |
Spinal cord structure |
Inferred relationship |
Some |
1 |
| A rare, complex hereditary spastic paraplegia characterized by an early onset of progressive lower limb spasticity, tip-toe walking, scissor gait, hyperreflexia and clonus that may be associated with borderline intellectual disability. Nystagmus and pes equinovarus have also been reported. |
Finding site |
True |
Spinal cord structure |
Inferred relationship |
Some |
1 |
| Sacral agenesis |
Finding site |
False |
Spinal cord structure |
Inferred relationship |
Some |
3 |
| Rachischisis with hydrocephalus |
Finding site |
False |
Spinal cord structure |
Inferred relationship |
Some |
4 |
| Intramedullary glomus arteriovenous malformation of spinal cord (disorder) |
Finding site |
True |
Spinal cord structure |
Inferred relationship |
Some |
2 |
| CLIPPERS is a rare neuroinflammatory disorder characterized by brainstem-predominant encephalomyelitis which typically presents with cerebellar and cranial nerve manifestations (gait ataxia, dysarthria, visual disorders, parasthesias), as well as brainstem, myelopathy and cognitive findings, that respond to steroid treatment. Punctate curvilinear post-gadolinium contrast enhancement predominantly in the pons and cerebellum is observed on brain MRI and prominent, perivascular, CD3+ T-cell predominantly lymphocytic inflammation in neuropathology. |
Finding site |
True |
Spinal cord structure |
Inferred relationship |
Some |
1 |
| Sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome is a rare, genetic, neural tube defect malformation syndrome characterized by sacral agenesis and abnormal vertebral body ossification with normal vertebral arches associated with notochord canal persistence on ultrasonography. Additional findings include bilateral clubfoot, oligohydramnios, single umbilical artery and, in some, increased nuchal translucency. |
Finding site |
True |
Spinal cord structure |
Inferred relationship |
Some |
4 |
| A rare complex hereditary spastic paraplegia characterized by an early onset hypotonia that progresses to spasticity, global developmental delay, severe intellectual disability and speech impairment, microcephaly, short stature and dysmorphic features. Patients often become non-ambulatory, and some develop seizures and stereotypic laughter. |
Finding site |
True |
Spinal cord structure |
Inferred relationship |
Some |
1 |
| 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 |
Spinal cord structure |
Inferred relationship |
Some |
2 |
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