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107669003: Degenerative abnormality (morphologic abnormality)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
172105010 Degenerative abnormality en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
593391011 Degenerative abnormality (morphologic abnormality) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
65101000077112 anomalie dégénérative fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

201 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Degenerative abnormality Is a Morphologically abnormal structure true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Osteoarthritis of bilateral hip joints due to and following trauma (disorder) Associated morphology False Degenerative abnormality Inferred relationship Some 4
Osteoarthritis of bilateral hip joints due to and following trauma (disorder) Associated morphology False Degenerative abnormality Inferred relationship Some 2
Westphal-Strumpell syndrome Associated morphology True Degenerative abnormality Inferred relationship Some 1
Westphal-Strumpell syndrome Associated morphology True Degenerative abnormality Inferred relationship Some 2
Westphal-Strumpell syndrome Associated morphology True Degenerative abnormality Inferred relationship Some 3
X-linked complex hereditary spastic paraplegia Associated morphology False Degenerative abnormality Inferred relationship Some 2
X-linked pure hereditary spastic paraplegia Associated morphology True Degenerative abnormality Inferred relationship Some 1
Autosomal recessive familial Parkinson disease Associated morphology True Degenerative abnormality Inferred relationship Some 1
Juvenile osteochondrosis of tarsus (disorder) Associated morphology True Degenerative abnormality Inferred relationship Some 1
Autosomal dominant Alzheimer disease due to mutation of presenilin 2 (disorder) Associated morphology True Degenerative abnormality Inferred relationship Some 1
Autosomal dominant Alzheimer disease due to mutation of presenilin 1 (disorder) Associated morphology True Degenerative abnormality Inferred relationship Some 1
Autosomal dominant Alzheimer disease due to mutation of amyloid precursor protein Associated morphology True Degenerative abnormality Inferred relationship Some 1
Atypical progressive supranuclear palsy syndrome Associated morphology True Degenerative abnormality Inferred relationship Some 1
Progressive supranuclear palsy parkinsonism syndrome (disorder) Associated morphology True Degenerative abnormality Inferred relationship Some 1
Progressive supranuclear palsy progressive non fluent aphasia Associated morphology True Degenerative abnormality Inferred relationship Some 1
Progressive supranuclear palsy corticobasal syndrome (disorder) Associated morphology True Degenerative abnormality Inferred relationship Some 2
Felty syndrome with seronegative erosive rheumatoid arthritis (disorder) Associated morphology True Degenerative abnormality Inferred relationship Some 1
Degenerating leiomyoma Is a False Degenerative abnormality Inferred relationship Some
Anti-citrullinated protein antibody positive erosive rheumatoid arthritis Associated morphology True Degenerative abnormality Inferred relationship Some 1
Rheumatoid factor and anti-citrullinated protein antibody positive erosive rheumatoid arthritis Associated morphology True Degenerative abnormality Inferred relationship Some 1
Seronegative erosive rheumatoid arthritis Associated morphology True Degenerative abnormality Inferred relationship Some 1
Oligoarticular osteoarthritis Associated morphology False Degenerative abnormality Inferred relationship Some 1
Psychosis co-occurrent and due to Parkinson's disease (disorder) Associated morphology True Degenerative abnormality Inferred relationship Some 3
Degenerative sequelae of disorders Associated morphology True Degenerative abnormality Inferred relationship Some 2
A rare genetic neurodegenerative disease characterized by childhood onset of slowly progressive motor and cognitive regression, resulting in intellectual disability and loss of language and ambulation, associated with the appearance of dystonia, parkinsonism, chorea, or rigidity. Ataxia, dysarthria, and seizures have also been reported. Head circumference percentiles may decline over time. Brain imaging shows progressive cerebral and cerebellar atrophy, in some patients also thinning of the corpus callosum. Associated morphology True Degenerative abnormality Inferred relationship Some 1
A rare genetic neurodegenerative disease characterized by sudden onset of progressive motor deterioration and regression of developmental milestones. Manifestations include dystonia and muscle spasms, dysphagia, dysarthria, and eventually loss of speech and ambulation. Brain MRI shows predominantly striatal abnormalities. The disease is potentially associated with a fatal outcome. Associated morphology True Degenerative abnormality 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. Associated morphology True Degenerative abnormality Inferred relationship Some 1
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. Associated morphology True Degenerative abnormality Inferred relationship Some 2
Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome is a rare, genetic, neurodegenerative disease characterized by episodic metabolic encephalomyopathic crises (of variable frequency and severity which are frequently precipitated by an acute illness) which manifest with profound muscle weakness, ataxia, seizures, cardiac arrhythmias, rhabdomyolysis with myoglobinuria, elevated plasma creatine kinase, hypoglycemia, lactic acidosis, increased acylcarnitines and a disorientated or comatose state. Global developmental delay, intellectual disability and cortical, pyramidal and cerebellar signs develop with subsequent progressive neurodegeneration causing loss of expressive language and varying degrees of cerebral atrophy. Associated morphology True Degenerative abnormality Inferred relationship Some 1
A rare genetic neurological disorder characterized by the association of hypomyelinating leukodystrophy with spondylometaphyseal dysplasia. Patients present in infancy with absent or delayed ability to walk independently, slowly progressive motor deterioration, spasticity, ataxia, proximal weakness, and joint contractures. Additional manifestations include mild cognitive impairment, short stature, scoliosis, enlarged and deformed joints, dysarthria, nystagmus, visual defects, and mildly dysmorphic features, among others. Mode of inheritance is X-linked recessive. Associated morphology True Degenerative abnormality Inferred relationship Some 2
Menkes kinky-hair syndrome Associated morphology True Degenerative abnormality Inferred relationship Some 2
Allan-Herndon-Dudley syndrome Associated morphology True Degenerative abnormality Inferred relationship Some 1
Severe X-linked mitochondrial encephalomyopathy is an extremely rare mitochondrial respiratory chain disease resulting in a neurodegenerative disorder characterized by psychomotor delay, hypotonia, areflexia, muscle weakness and wasting in the two patients reported to date. Associated morphology True Degenerative abnormality Inferred relationship Some 3
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by moderate intellectual disability, dysmorphic facial features (such as prominent glabella, synophrys, and prognathism), generalized hirsutism, bilateral single palmar creases, and seizures. Additional reported manifestations include slowly progressive neurological deterioration with muscular weakness and impaired gait and balance, as well as hypogammaglobulinemia with specific absence of plasma and/or secretory IgA, among others. Brain imaging may show mild cerebellar atrophy and thin corpus callosum. Associated morphology True Degenerative abnormality Inferred relationship Some 1
Acyl-CoA oxidase deficiency Associated morphology True Degenerative abnormality Inferred relationship Some 1
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. Associated morphology True Degenerative abnormality Inferred relationship Some 4
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. Associated morphology True Degenerative abnormality Inferred relationship Some 1
Degeneration of uterine fibroid Associated morphology True Degenerative abnormality Inferred relationship Some 1
Deep sclerectomy without spacer (procedure) Procedure morphology (attribute) False Degenerative abnormality Inferred relationship Some 2
Deep sclerectomy with spacer (procedure) Procedure morphology (attribute) False Degenerative abnormality Inferred relationship Some 2
Deep sclerectomy (procedure) Procedure morphology (attribute) False Degenerative abnormality Inferred relationship Some 3
Deep sclerectomy with collagen implant (procedure) Procedure morphology (attribute) False Degenerative abnormality 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. Associated morphology False Degenerative abnormality Inferred relationship Some 2
Spinocerebellar ataxia due to vitamin E deficiency (disorder) Associated morphology True Degenerative abnormality Inferred relationship Some 1
Spinocerebellar ataxia due to vitamin E deficiency (disorder) Associated morphology True Degenerative abnormality Inferred relationship Some 2
A rare genetic disease characterized by onset of neurological deterioration in the first two years of life, progressing to severe intellectual disability, profound ataxia, mild dyskinesia, axial hypotonia, camptocormia, and oculomotor apraxia. Some patients also develop nephropathy with features of tubulointerstitial nephritis, hypertension, and a tendency for hyperkalemia. Associated morphology True Degenerative abnormality 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. Associated morphology True Degenerative abnormality Inferred relationship Some 3
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. Associated morphology True Degenerative abnormality Inferred relationship Some 4
Autosomal dominant hereditary spastic paraplegia Associated morphology True Degenerative abnormality Inferred relationship Some 3
X-linked hereditary spastic paraplegia (disorder) Associated morphology True Degenerative abnormality Inferred relationship Some 1
Autosomal recessive hereditary spastic paraplegia Associated morphology True Degenerative abnormality Inferred relationship Some 1
Pure hereditary spastic paraplegia Associated morphology True Degenerative abnormality Inferred relationship Some 3
Complicated hereditary spastic paraplegia Associated morphology True Degenerative abnormality Inferred relationship Some 1
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. Associated morphology True Degenerative abnormality Inferred relationship Some 1
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. Associated morphology True Degenerative abnormality Inferred relationship Some 1
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. Associated morphology True Degenerative abnormality Inferred relationship Some 1
Hereditary spastic paraplegia Associated morphology True Degenerative abnormality 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. Associated morphology True Degenerative abnormality Inferred relationship Some 2
A complex form of hereditary spastic paraplegia, characterized by an onset in childhood or adulthood of progressive spastic paraplegia (with spastic gait, spasticity, lower limb weakness, pes cavus and urinary urgency) associated with the additional manifestation of peripheral sensorimotor neuropathy. Associated morphology True Degenerative abnormality Inferred relationship Some 3
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. Associated morphology True Degenerative abnormality Inferred relationship Some 4
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. Associated morphology True Degenerative abnormality Inferred relationship Some 4
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. Associated morphology True Degenerative abnormality 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. Associated morphology True Degenerative abnormality Inferred relationship Some 1
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. Associated morphology True Degenerative abnormality Inferred relationship Some 3
X-linked complex hereditary spastic paraplegia Associated morphology True Degenerative abnormality 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. Associated morphology True Degenerative abnormality Inferred relationship Some 1
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. Associated morphology True Degenerative abnormality 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. Associated morphology True Degenerative abnormality Inferred relationship Some 1
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. Associated morphology True Degenerative abnormality Inferred relationship Some 1
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. Associated morphology True Degenerative abnormality Inferred relationship Some 1
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. Associated morphology True Degenerative abnormality 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. Associated morphology True Degenerative abnormality Inferred relationship Some 1
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. Associated morphology True Degenerative abnormality Inferred relationship Some 1
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). Associated morphology True Degenerative abnormality Inferred relationship Some 1
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. Associated morphology True Degenerative abnormality Inferred relationship Some 1
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. Associated morphology True Degenerative abnormality Inferred relationship Some 1
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. Associated morphology True Degenerative abnormality Inferred relationship Some 1
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. Associated morphology True Degenerative abnormality Inferred relationship Some 1
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. Associated morphology True Degenerative abnormality Inferred relationship Some 1
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. Associated morphology True Degenerative abnormality Inferred relationship Some 1
Pituitary degeneration Associated morphology True Degenerative abnormality Inferred relationship Some 1
Leigh syndrome due to cytochrome C oxidase deficiency (disorder) Associated morphology True Degenerative abnormality Inferred relationship Some 2
A rare autosomal recessive axonal hereditary motor and sensory neuropathy characterized by infantile onset of recurrent episodes of acute liver failure (resulting in chronic liver fibrosis and hepatosplenomegaly), delayed motor development, cerebellar dysfunction presenting as gait disturbances and intention tremor, neurogenic stuttering, and motor and sensory neuropathy with muscle weakness especially in the lower legs, and numbness. Mild intellectual disability was reported in some patients. MRI of the brain shows non-progressive atrophy of the cerebellar vermis and thinning of the optic nerve. Associated morphology True Degenerative abnormality Inferred relationship Some 1
A rare autosomal recessive axonal hereditary motor and sensory neuropathy characterized by infantile onset of recurrent episodes of acute liver failure (resulting in chronic liver fibrosis and hepatosplenomegaly), delayed motor development, cerebellar dysfunction presenting as gait disturbances and intention tremor, neurogenic stuttering, and motor and sensory neuropathy with muscle weakness especially in the lower legs, and numbness. Mild intellectual disability was reported in some patients. MRI of the brain shows non-progressive atrophy of the cerebellar vermis and thinning of the optic nerve. Associated morphology True Degenerative abnormality Inferred relationship Some 2
A rare hereditary ataxia characterised by neurogenic muscular atrophy associated with signs of cerebellar ataxia, hypaesthesia, degeneration of the retina, and diabetes mellitus. Onset of the disease is in adolescence and the course is slowly progressive. There have been no further descriptions in the literature since 1983. Associated morphology True Degenerative abnormality Inferred relationship Some 2
An autosomal dominant hereditary neurodegenerative disease with characteristics of progressive muscular paralysis reflecting degeneration of motor neurons in the primary motor cortex, corticospinal tracts, brainstem and spinal cord. Associated with mutations in the superoxide dismutase-1 gene (SOD1) on chromosome 21q22. Associated morphology True Degenerative abnormality Inferred relationship Some 1
An autosomal recessive hereditary neurodegenerative disease with characteristics of progressive muscular paralysis reflecting degeneration of motor neurons in the primary motor cortex, corticospinal tracts, brainstem and spinal cord. Associated with mutations in the superoxide dismutase-1 gene (SOD1) on chromosome 21q22. Associated morphology True Degenerative abnormality Inferred relationship Some 1
A neurodegenerative disease with characteristics of progressive muscular paralysis reflecting degeneration of motor neurons in the primary motor cortex, corticospinal tracts, brainstem and spinal cord. Associated with mutations in the superoxide dismutase-1 gene (SOD1) on chromosome 21q22. Associated morphology True Degenerative abnormality Inferred relationship Some 1
Fibrocystic renal degeneration Associated morphology True Degenerative abnormality Inferred relationship Some 1
A neurodegenerative disease with characteristics of progressive muscular paralysis reflecting degeneration of motor neurons in the primary motor cortex, corticospinal tracts, brainstem and spinal cord. Caused by heterozygous mutation in the FUS gene on chromosome 16p11. Associated morphology True Degenerative abnormality Inferred relationship Some 1
A neurodegenerative disease with characteristics of progressive muscular paralysis reflecting degeneration of motor neurons in the primary motor cortex, corticospinal tracts, brainstem and spinal cord. Associated with the ALS3 gene on the cytogenetic location 18q21. Associated morphology True Degenerative abnormality Inferred relationship Some 2
A neurodegenerative disease with characteristics of progressive muscular paralysis reflecting degeneration of motor neurons in the primary motor cortex, corticospinal tracts, brainstem and spinal cord. Cytogenetic location is 20p13. Associated morphology True Degenerative abnormality Inferred relationship Some 1
A neurodegenerative disease with characteristics of progressive muscular paralysis reflecting degeneration of motor neurons in the primary motor cortex, corticospinal tracts, brainstem and spinal cord. Caused by heterozygous mutation in the VAPB gene on chromosome 20q13. Associated morphology True Degenerative abnormality Inferred relationship Some 1
A neurodegenerative disease with characteristics of progressive muscular paralysis reflecting degeneration of motor neurons in the primary motor cortex, corticospinal tracts, brainstem and spinal cord. Caused by heterozygous mutation in the angiogenin gene (ANG) on chromosome 14q11. Associated morphology True Degenerative abnormality Inferred relationship Some 1
A rare autosomal recessive syndromic cerebellar ataxia characterized by the association of early-onset cerebellar ataxia with hearing loss and blindness. Patients may also present demyelinating peripheral motor neuropathy. Cerebral MRI shows alterations of the cerebellar white matter without cerebellar atrophy. Associated morphology True Degenerative abnormality Inferred relationship Some 1
A rare autosomal recessive syndromic cerebellar ataxia characterized by the association of early-onset cerebellar ataxia with hearing loss and blindness. Patients may also present demyelinating peripheral motor neuropathy. Cerebral MRI shows alterations of the cerebellar white matter without cerebellar atrophy. Associated morphology True Degenerative abnormality Inferred relationship Some 2
A rare multiple congenital anomalies/dysmorphic syndrome characterized by profound intellectual disability, choreoathetosis, progressive spastic diplegia, progressive tapetoretinal degeneration with loss of retinal vessels, and glomerulopathy resulting in death late in the first or early in the second decade of life. Absence of the cerebellar granular layer has been reported. There have been no further descriptions in the literature since 1982. Associated morphology True Degenerative abnormality Inferred relationship Some 2
A neurodegenerative disease with characteristics of progressive muscular paralysis reflecting degeneration of motor neurons in the primary motor cortex, corticospinal tracts, brainstem and spinal cord. There is evidence this disease is caused by heterozygous mutation in the TARDBP gene that encodes the TDP43 protein on chromosome 1p36. Associated morphology True Degenerative abnormality Inferred relationship Some 1
Familial infantile bilateral striatal necrosis is the familial form of infantile bilateral striatal necrosis, a syndrome of bilateral symmetric spongy degeneration of the caudate nucleus, putamen and globus pallidus characterized by developmental regression, choreoathetosis and dystonia progressing to spastic quadriparesis. Associated morphology True Degenerative abnormality Inferred relationship Some 1
Spinocerebellar ataxia type 41 is a rare autosomal dominant cerebellar ataxia type III disorder characterized by adult-onset progressive imbalance and loss of coordination associated with an ataxic gait. Mild atrophy of the cerebellar vermis has been reported on brain magnetic resonance imaging. Associated morphology True Degenerative abnormality Inferred relationship Some 1
Spinocerebellar ataxia type 41 is a rare autosomal dominant cerebellar ataxia type III disorder characterized by adult-onset progressive imbalance and loss of coordination associated with an ataxic gait. Mild atrophy of the cerebellar vermis has been reported on brain magnetic resonance imaging. Associated morphology True Degenerative abnormality Inferred relationship Some 2

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