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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
Altered behavior due to Pick's disease (disorder) Associated morphology True Degenerative abnormality Inferred relationship Some 4
Sudden acquired retinal degeneration Associated morphology True Degenerative abnormality Inferred relationship Some 1
A rare, genetic, autosomal recessive cerebellar ataxia disease characterized by slowly progressive spinocerebellar ataxia developing during childhood, manifesting with gait and limb ataxia, postural tremor, dysarthria, sensory alterations (e.g. decreased vibration sense), eye movement anomalies (i.e. nystagmus, saccadic pursuit, oculomotor apraxia), upper and lower limb fasciculations, and hyperreflexia with Babinski signs. Brain imaging reveals cerebellar, pontine, vermian and medullar atrophy. Associated morphology True Degenerative abnormality Inferred relationship Some 2
A rare, genetic, autosomal recessive cerebellar ataxia disease characterized by slowly progressive spinocerebellar ataxia developing during childhood, manifesting with gait and limb ataxia, postural tremor, dysarthria, sensory alterations (e.g. decreased vibration sense), eye movement anomalies (i.e. nystagmus, saccadic pursuit, oculomotor apraxia), upper and lower limb fasciculations, and hyperreflexia with Babinski signs. Brain imaging reveals cerebellar, pontine, vermian and medullar atrophy. Associated morphology True Degenerative abnormality Inferred relationship Some 1
A rare, genetic, autosomal recessive cerebellar ataxia disease characterized by adulthood-onset of slowly progressive spinocerebellar ataxia, manifesting with gait and appendicular ataxia, dysarthria, ocular movement anomalies (e.g. horizontal, vertical, and/or downbeat nystagmus, hypermetric saccades), increased deep tendon reflexes and progressive cognitive decline. Additional variable features may include proximal leg muscle wasting and fasciculations, pes cavus, inspiratory stridor, epilepsy, retinal degeneration and cataracts. Brain imaging reveals marked cerebellar atrophy and electromyography shows evidence of lower motor neuron involvement. Associated morphology True Degenerative abnormality Inferred relationship Some 2
A rare, genetic, autosomal recessive cerebellar ataxia disease characterized by adulthood-onset of slowly progressive spinocerebellar ataxia, manifesting with gait and appendicular ataxia, dysarthria, ocular movement anomalies (e.g. horizontal, vertical, and/or downbeat nystagmus, hypermetric saccades), increased deep tendon reflexes and progressive cognitive decline. Additional variable features may include proximal leg muscle wasting and fasciculations, pes cavus, inspiratory stridor, epilepsy, retinal degeneration and cataracts. Brain imaging reveals marked cerebellar atrophy and electromyography shows evidence of lower motor neuron involvement. Associated morphology True Degenerative abnormality Inferred relationship Some 1
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. Associated morphology True Degenerative abnormality Inferred relationship Some 1
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. Associated morphology True Degenerative abnormality Inferred relationship Some 1
A rare, genetic, systemic disease characterized by the presence of arterial aneurysms, tortuosity and dissection throughout the arterial tree, associated with early-onset osteoarthritis (predominantly affecting the spine, hands and/or wrists, and knees) and mild craniofacial dysmorphism (including long face, high forehead, flat supraorbital ridges, hypertelorism, malar hypoplasia and, anomalies of the palate and uvula), as well as mild skeletal and cutaneous anomalies. Joint abnormalities, such as osteochondritis dissecans and intervertebral disc degeneration, are frequently associated. Additional cardiovascular anomalies may include mitral valve defects, congenital heart malformations, ventricular hypertrophy and atrial fibrillation. Associated morphology False Degenerative abnormality Inferred relationship Some 1
Synucleinopathy Associated morphology True Degenerative abnormality Inferred relationship Some 1
Alzheimer's disease with altered behavior Associated morphology True Degenerative abnormality Inferred relationship Some 2
Mixed dementia is the co-occurrence of Alzheimer disease and cerebrovascular disease. Associated morphology True Degenerative abnormality Inferred relationship Some 1
Early age related macular degeneration Associated morphology True Degenerative abnormality Inferred relationship Some 1
Intermediate age related macular degeneration (disorder) Associated morphology True Degenerative abnormality Inferred relationship Some 1
Osteoarthritis of hip due to and following trauma (disorder) Associated morphology False Degenerative abnormality Inferred relationship Some 1
Osteoarthritis of knee due to and following trauma Associated morphology True Degenerative abnormality Inferred relationship Some 1
Osteoarthritis of wrist and hand due to and following trauma (disorder) Associated morphology False Degenerative abnormality Inferred relationship Some 2
Osteoarthritis of wrist and hand due to and following trauma (disorder) Associated morphology False Degenerative abnormality Inferred relationship Some 1
A rare neuronal ceroid lipofuscinosis disorder characterized by juvenile-onset of progressive spinocerebellar ataxia, bulbar syndrome (manifesting with dysarthria, dysphagia and dysphonia), pyramidal and extrapyramidal involvement (including myoclonus, amyotrophy, unsteady gait, akinesia, rigidity, dysarthric speech) and intellectual deterioration. Muscle biopsy displays autofluorescent bodies and lipofuscin deposits in brain and, occasionally the retina, upon postmortem. Associated morphology True Degenerative abnormality Inferred relationship Some 2
A rare neuronal ceroid lipofuscinosis disorder characterized by juvenile-onset of progressive spinocerebellar ataxia, bulbar syndrome (manifesting with dysarthria, dysphagia and dysphonia), pyramidal and extrapyramidal involvement (including myoclonus, amyotrophy, unsteady gait, akinesia, rigidity, dysarthric speech) and intellectual deterioration. Muscle biopsy displays autofluorescent bodies and lipofuscin deposits in brain and, occasionally the retina, upon postmortem. Associated morphology True Degenerative abnormality Inferred relationship Some 3
A rare neuronal ceroid lipofuscinosis disorder characterized by juvenile-onset of progressive spinocerebellar ataxia, bulbar syndrome (manifesting with dysarthria, dysphagia and dysphonia), pyramidal and extrapyramidal involvement (including myoclonus, amyotrophy, unsteady gait, akinesia, rigidity, dysarthric speech) and intellectual deterioration. Muscle biopsy displays autofluorescent bodies and lipofuscin deposits in brain and, occasionally the retina, upon postmortem. Associated morphology True Degenerative abnormality 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. Associated morphology True Degenerative abnormality Inferred relationship Some 1
Retinal angiomatous proliferation Associated morphology True Degenerative abnormality Inferred relationship Some 1
Degeneration of thoracolumbar intervertebral disc Associated morphology True Degenerative abnormality Inferred relationship Some 1
A rare neurodegenerative disease characterized by extrapyramidal symptoms (rigidity, tremor, bradykinesia) and dementia, typically beginning in the fifth or sixth decade of life and progressing to a vegetative state with pelvicrural flexion contractures within few years. Oculomotor signs, olfactory dysfunction, and autonomic disturbances may also be observed. Neuropathological hallmarks are frontotemporally accentuated cerebral atrophy, as well as neurofibrillary tangles and neuronal loss in a characteristic distribution in cortical and subcortical regions. The disease is endemic to the Pacific Island of Guam. Associated morphology True Degenerative abnormality Inferred relationship Some 1
Reactive perforating collagenosis 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 False Degenerative abnormality Inferred relationship Some 1
Post-traumatic gonarthrosis, bilateral Associated morphology True Degenerative abnormality Inferred relationship Some 1
Post-traumatic gonarthrosis, bilateral Associated morphology True Degenerative abnormality Inferred relationship Some 2
Osteoarthritis of bilateral hip joints due to and following trauma (disorder) Associated morphology False Degenerative abnormality Inferred relationship Some 5
Polypoid degeneration of vocal cord Associated morphology True Degenerative abnormality Inferred relationship Some 2
Ainhum Associated morphology False Degenerative abnormality Inferred relationship Some 2
Bullous retinoschisis of left eye (disorder) Associated morphology True Degenerative abnormality Inferred relationship Some 1
Terrien's marginal degeneration of peripheral cornea of right eye (disorder) Associated morphology True Degenerative abnormality Inferred relationship Some 1
Terrien's marginal degeneration of peripheral cornea of left eye Associated morphology True Degenerative abnormality Inferred relationship Some 1
Bilateral Terrien's marginal degeneration of peripheral corneas Associated morphology True Degenerative abnormality Inferred relationship Some 1
Bilateral Terrien's marginal degeneration of peripheral corneas Associated morphology True Degenerative abnormality Inferred relationship Some 2
Bullous retinoschisis of right eye Associated morphology True Degenerative abnormality Inferred relationship Some 1
Degenerative myopia of left eye (disorder) Associated morphology True Degenerative abnormality Inferred relationship Some 1
Degenerative myopia of right eye Associated morphology True Degenerative abnormality Inferred relationship Some 1
Bilateral angioid streaks of choroid of eyes Associated morphology True Degenerative abnormality Inferred relationship Some 1
Bilateral angioid streaks of choroid of eyes Associated morphology True Degenerative abnormality Inferred relationship Some 2
Choroideremia of bilateral eyes (disorder) Associated morphology True Degenerative abnormality Inferred relationship Some 1
Choroideremia of bilateral eyes (disorder) Associated morphology True Degenerative abnormality Inferred relationship Some 2
Choroid degeneration of right eye Associated morphology True Degenerative abnormality Inferred relationship Some 1
Choroid degeneration of left eye (disorder) Associated morphology True Degenerative abnormality Inferred relationship Some 1
Choroid degeneration of bilateral eyes (disorder) Associated morphology True Degenerative abnormality Inferred relationship Some 1
Choroid degeneration of bilateral eyes (disorder) Associated morphology True Degenerative abnormality Inferred relationship Some 2
Flat retinoschisis of left eye Associated morphology True Degenerative abnormality Inferred relationship Some 1
Flat retinoschisis of right eye (disorder) Associated morphology True Degenerative abnormality Inferred relationship Some 1
Flat retinoschisis of bilateral eyes (disorder) Associated morphology True Degenerative abnormality Inferred relationship Some 1
Flat retinoschisis of bilateral eyes (disorder) Associated morphology True Degenerative abnormality Inferred relationship Some 2
Degeneration of peripheral cornea of right eye (disorder) Associated morphology True Degenerative abnormality Inferred relationship Some 1
Degeneration of peripheral cornea of left eye (disorder) Associated morphology True Degenerative abnormality Inferred relationship Some 1
Bilateral degeneration of peripheral cornea of bilateral eyes Associated morphology True Degenerative abnormality Inferred relationship Some 1
Bilateral degeneration of peripheral cornea of bilateral eyes Associated morphology True Degenerative abnormality Inferred relationship Some 2
Peripheral cystoid degeneration of retina of bilateral eyes (disorder) Associated morphology True Degenerative abnormality Inferred relationship Some 1
Peripheral cystoid degeneration of retina of bilateral eyes (disorder) Associated morphology True Degenerative abnormality Inferred relationship Some 2
Dellen of cornea of bilateral eyes (disorder) Associated morphology True Degenerative abnormality Inferred relationship Some 1
Dellen of cornea of bilateral eyes (disorder) Associated morphology True Degenerative abnormality Inferred relationship Some 2
A very rare and severe type of NAGA deficiency characterized by infantile neuroaxonal dystrophy. Associated morphology False Degenerative abnormality Inferred relationship Some 2
Alpha-N-acetylgalactosaminidase deficiency type 2 Associated morphology False Degenerative abnormality Inferred relationship Some 2
Alpha-N-acetylgalactosaminidase deficiency type 3 (disorder) Associated morphology False Degenerative abnormality Inferred relationship Some 2
Nerve root and plexus compressions in spondylosis (disorder) Associated morphology True Degenerative abnormality Inferred relationship Some 1
Lumbosacral spondylosis Associated morphology True Degenerative abnormality Inferred relationship Some 1
Lumbosacral spondylosis with myelopathy Associated morphology True Degenerative abnormality Inferred relationship Some 1
Single-level lumbosacral spondylosis with myelopathy Associated morphology True Degenerative abnormality Inferred relationship Some 1
Two-level lumbosacral spondylosis with myelopathy Associated morphology True Degenerative abnormality Inferred relationship Some 1
Multiple-level lumbosacral spondylosis with myelopathy Associated morphology True Degenerative abnormality Inferred relationship Some 1
Lumbosacral spondylosis with root compression Associated morphology True Degenerative abnormality Inferred relationship Some 2
Bilateral primary congenital glaucoma Associated morphology False Degenerative abnormality Inferred relationship Some 1
Bilateral primary congenital glaucoma Associated morphology False Degenerative abnormality Inferred relationship Some 2
Bilateral primary congenital glaucoma Associated morphology False Degenerative abnormality Inferred relationship Some 3
Stickler syndrome type 1 Associated morphology True Degenerative abnormality Inferred relationship Some 1
Stickler syndrome type 2 Associated morphology True Degenerative abnormality Inferred relationship Some 1
Stickler syndrome type 4 (disorder) Associated morphology True Degenerative abnormality Inferred relationship Some 1
Gonarthrosis of left knee due to and following trauma (disorder) Associated morphology True Degenerative abnormality Inferred relationship Some 1
Gonarthrosis of right knee due to and following trauma Associated morphology True Degenerative abnormality Inferred relationship Some 1
Ainhum of fifth toe Associated morphology True Degenerative abnormality Inferred relationship Some 1
Ainhum Associated morphology True Degenerative abnormality Inferred relationship Some 1
Aicardi's syndrome Associated morphology True Degenerative abnormality Inferred relationship Some 3
Aicardi's syndrome Associated morphology True Degenerative abnormality Inferred relationship Some 4
Reticular pseudodrusen Associated morphology True Degenerative abnormality Inferred relationship Some 1
Degeneration of lateral meniscus Associated morphology True Degenerative abnormality Inferred relationship Some 1
Degenerative tear of triangular fibrocartilage complex of wrist (disorder) Associated morphology True Degenerative abnormality Inferred relationship Some 1
Pure autonomic failure (disorder) Associated morphology True Degenerative abnormality Inferred relationship Some 4
Parkinson's disease Associated morphology True Degenerative abnormality Inferred relationship Some 1
Juvenile Parkinson's disease Associated morphology True Degenerative abnormality Inferred relationship Some 1
Orthostatic hypotension co-occurrent and due to Parkinson's disease (disorder) Associated morphology True Degenerative abnormality Inferred relationship Some 2
Sporadic Parkinson disease (disorder) Associated morphology True Degenerative abnormality Inferred relationship Some 1
A complex form of young-onset Parkinson disease that manifests with pyramidal signs, eye movement abnormalities, psychiatric manifestations (depression, anxiety, drug-induced psychosis, and impulse control disorders), intellectual disability, and other neurological symptoms (such as ataxia and epilepsy) along with classical parkinsonian symptoms. Associated morphology True Degenerative abnormality Inferred relationship Some 1
A rare, genetic, parkinsonian disorder characterized by an age of onset between 21-45 years, rigidity, painful cramps followed by tremor, bradykinesia, dystonia, gait complaints and falls, and other non-motor symptoms. A slow disease progression and a more pronounced response to dopaminergic therapy are also observed in most forms of this disease. Associated morphology True Degenerative abnormality Inferred relationship Some 1
A rare X-linked syndromic intellectual disability characterized by infantile-onset non-progressive intellectual deficit (with psychomotor developmental delay, cognitive impairment and macrocephaly) and early-onset parkinsonism (before 45 years of age), in male patients. Associated morphology True Degenerative abnormality Inferred relationship Some 2
Hereditary late-onset Parkinson disease (LOPD) is a form of Parkinson disease (PD), characterized by an age of onset of more than 50 years, tremor at rest, gait complaints and falls, bradykinesia, rigidity and painful cramps. Patients usually present a low risk of developing non motor symptoms, dystonia, dyskinesia and levodopa-induced dyskinesia (LID). Associated morphology True Degenerative abnormality Inferred relationship Some 1
Juvenile osteochondrosis of thoracolumbar spine (disorder) Associated morphology True Degenerative abnormality Inferred relationship Some 3
Congenital retinoschisis Associated morphology True Degenerative abnormality Inferred relationship Some 1
Parkinsonian syndrome with idiopathic orthostatic hypotension (disorder) Associated morphology True Degenerative abnormality Inferred relationship Some 5
Rheumatoid arthritis with erosion of joint (disorder) Associated morphology True Degenerative abnormality Inferred relationship Some 2
Progressive cerebellar ataxia with hypogonadism Associated morphology True Degenerative abnormality Inferred relationship Some 1
Cervical spondylosis (disorder) Associated morphology True Degenerative abnormality Inferred relationship Some 1
Osteoarthritis of bilateral hip joints due to and following trauma (disorder) Associated morphology False Degenerative abnormality Inferred relationship Some 4

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