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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
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
A rare, autosomal dominant cerebellar ataxia characterized by pure and slowly progressive cerebellar signs combining gait instability, dysarthria, nystagmus, saccadic eye movements and diplopia. Less frequent clinical signs and symptoms include spasticity, hyperreflexia, decreased distal vibration sense, urinary urgency or incontinence and postural tremor. Associated morphology True Degenerative abnormality Inferred relationship Some 1
A rare, autosomal dominant cerebellar ataxia characterized by pure and slowly progressive cerebellar signs combining gait instability, dysarthria, nystagmus, saccadic eye movements and diplopia. Less frequent clinical signs and symptoms include spasticity, hyperreflexia, decreased distal vibration sense, urinary urgency or incontinence and postural tremor. Associated morphology True Degenerative abnormality Inferred relationship Some 2
Spinocerebellar ataxia type 43 is a rare autosomal dominant cerebellar ataxia type I disorder characterized by late adult-onset of slowly progressive cerebellar ataxia, typically presenting with balance and gait disturbances, in association with axonal peripheral neuropathy resulting in reduced/absent deep tendon reflexes and sensory impairment. Lower limb pain and amyotrophy may be present, as well as various cerebellar signs, including dysarthria, nystagmus, hypometric saccades and tremor. Associated morphology True Degenerative abnormality Inferred relationship Some 1
Spinocerebellar ataxia type 43 is a rare autosomal dominant cerebellar ataxia type I disorder characterized by late adult-onset of slowly progressive cerebellar ataxia, typically presenting with balance and gait disturbances, in association with axonal peripheral neuropathy resulting in reduced/absent deep tendon reflexes and sensory impairment. Lower limb pain and amyotrophy may be present, as well as various cerebellar signs, including dysarthria, nystagmus, hypometric saccades and tremor. Associated morphology True Degenerative abnormality Inferred relationship Some 2
Advanced age related macular degeneration (disorder) Associated morphology True Degenerative abnormality Inferred relationship Some 1
Advanced exudative age related macular degeneration (disorder) Associated morphology True Degenerative abnormality Inferred relationship Some 1
Bilateral degenerative rupture of triangular fibrocartilage of wrist regions Associated morphology True Degenerative abnormality Inferred relationship Some 1
Bilateral degenerative rupture of triangular fibrocartilage of wrist regions Associated morphology True Degenerative abnormality Inferred relationship Some 2
Degeneration of adrenal gland Associated morphology True Degenerative abnormality Inferred relationship Some 1
A rare genetic systemic or rheumatologic disease characterized by infantile onset of skin anomalies (such as delayed wound healing with atrophic scars and mild alopecia with dry and brittle hair), retinal rod degeneration with night blindness, degenerative myopathy with muscle weakness, myalgia, and cramps, osteoarthritis, joint laxity, prolapse of internal organs, floating kidney syndrome, malabsorption syndrome, and hypothyroidism. The phenotype has been reported to be more severe in women than in men. Associated morphology True Degenerative abnormality Inferred relationship Some 1
A rare genetic systemic or rheumatologic disease characterized by infantile onset of skin anomalies (such as delayed wound healing with atrophic scars and mild alopecia with dry and brittle hair), retinal rod degeneration with night blindness, degenerative myopathy with muscle weakness, myalgia, and cramps, osteoarthritis, joint laxity, prolapse of internal organs, floating kidney syndrome, malabsorption syndrome, and hypothyroidism. The phenotype has been reported to be more severe in women than in men. Associated morphology True Degenerative abnormality Inferred relationship Some 2
Degeneration of pineal gland (disorder) Associated morphology True Degenerative abnormality Inferred relationship Some 1
Degeneration of thyroid (disorder) Associated morphology True Degenerative abnormality Inferred relationship Some 1
Neurotrophic keratitis due to diabetes mellitus (disorder) Associated morphology True Degenerative abnormality Inferred relationship Some 1
A rare spondyloepiphyseal dysplasia characterized by progressive joint contractures with premature degenerative joint disease, particularly in the knee, hip, and finger joints. Patients are of normal height and present with gait problems, joint pain, and enlarged joints with joint restriction and contractures. Radiological features include generalized platyspondyly, hypoplastic ilia, epiphyseal flattening with metaphyseal splaying of the tubular bones, and broad, elongated femoral necks with marked coxa valga. Histopathologic examination of cartilage shows PAS-positive cytoplasmic inclusion bodies in chondrocytes. Associated morphology True Degenerative abnormality Inferred relationship Some 1
A rare developmental defect during embryogenesis caused by homozygous mutations in the PCNA gene and characterized by neurodegeneration, postnatal growth retardation, prelingual sensorineural hearing loss, premature aging, ocular and cutaneous telangiectasia, learning difficulties, photophobia, and photosensitivity with evidence of predisposition to sun-induced malignancy. Progressive neurologic deterioration leads to gait disturbances, muscle weakness, speech and swallowing difficulties and progressive cognitive decline. Associated morphology True Degenerative abnormality Inferred relationship Some 1
Angioid streaks of choroid of right eye (disorder) Associated morphology True Degenerative abnormality Inferred relationship Some 1
Angioid streaks of choroid of left eye Associated morphology True Degenerative abnormality Inferred relationship Some 1
A rare neurologic disease characterized by multifaceted motor system dysfunctions and cognitive defects such as asymmetric rigidity, bradykinesia, limb apraxia, and visuospatial dysfunction. Associated morphology True Degenerative abnormality Inferred relationship Some 1
A rare neurologic disease characterized by multifaceted motor system dysfunctions and cognitive defects such as asymmetric rigidity, bradykinesia, limb apraxia, and visuospatial dysfunction. Associated morphology True Degenerative abnormality Inferred relationship Some 2
A rare clinical situation occurring in the context of Parkinson disease characterized by return or worsening of symptoms (including motor and/or non-motor symptoms) under antiparkinsonian therapy. Types of off-periods are Morning Off (experienced before the first dose of the day), Delayed On (occurring more frequently after the first dose of the day or after meals), Wearing Off (end-of-dose deterioration), Sudden Off (sudden transition from on to off), and Dose Failure. Associated morphology True Degenerative abnormality Inferred relationship Some 1
Myopic foveoschisis Associated morphology True Degenerative abnormality Inferred relationship Some 1
Post-surgical neurotrophic keratitis Associated morphology True Degenerative abnormality Inferred relationship Some 1
Neurotrophic keratitis following herpes simplex dendritic keratitis Associated morphology True Degenerative abnormality Inferred relationship Some 1
A rare neurometabolic disease characterized by infantile onset of rapidly progressive neurological deterioration, typically precipitated by a febrile illness. Patients present with hypotonia, loss of previously acquired motor milestones and cognitive skills, ataxia, nystagmus, tremor, seizures, tetraparesis, and respiratory failure, eventually resulting in a vegetative state. Imaging of the brain and spinal cord may show white matter abnormalities, cerebral atrophy, cerebellar edema, and spinal myelopathy. Subacute development of extensive bullous skin lesions within weeks of onset of neurological symptoms has also been reported. Associated morphology True Degenerative abnormality Inferred relationship Some 1
A rare neurometabolic disease characterized by infantile onset of rapidly progressive neurological deterioration, typically precipitated by a febrile illness. Patients present with hypotonia, loss of previously acquired motor milestones and cognitive skills, ataxia, nystagmus, tremor, seizures, tetraparesis, and respiratory failure, eventually resulting in a vegetative state. Imaging of the brain and spinal cord may show white matter abnormalities, cerebral atrophy, cerebellar edema, and spinal myelopathy. Subacute development of extensive bullous skin lesions within weeks of onset of neurological symptoms has also been reported. Associated morphology True Degenerative abnormality Inferred relationship Some 2
A rare genetic neurological disorder characterized by severe pseudo-TORCH syndrome with signs of brain damage and occasionally systemic manifestations resembling the sequelae of congenital infection, but in the absence of an infectious agent. Characteristic features include microcephaly, white matter disease, cerebral atrophy, cerebral hemorrhage, and calcifications, among others. Affected individuals typically have seizures and respiratory insufficiency and die in infancy. Associated morphology True Degenerative abnormality Inferred relationship Some 1
Retinoschisis - inner leaf break Associated morphology True Degenerative abnormality Inferred relationship Some 3
rétinoschisis par rupture du feuillet externe Associated morphology True Degenerative abnormality Inferred relationship Some 3
A rare genetic disease characterized by juvenile-onset insulin-dependent diabetes mellitus associated with central and peripheral nervous system abnormalities with variable onset between infancy and adolescence. Neurological manifestations include combined cerebellar and afferent ataxia, sensorineural hearing loss, pyramidal tract signs, and demyelinating sensorimotor peripheral neuropathy. Hypothyroidism has been reported in some patients. Brain imaging may show generalized cerebral atrophy. Associated morphology True Degenerative abnormality Inferred relationship Some 1
A rare genetic disease characterized by juvenile-onset insulin-dependent diabetes mellitus associated with central and peripheral nervous system abnormalities with variable onset between infancy and adolescence. Neurological manifestations include combined cerebellar and afferent ataxia, sensorineural hearing loss, pyramidal tract signs, and demyelinating sensorimotor peripheral neuropathy. Hypothyroidism has been reported in some patients. Brain imaging may show generalized cerebral atrophy. Associated morphology True Degenerative abnormality Inferred relationship Some 2
Pseudoxanthoma elasticum caused by penicillamine Associated morphology True Degenerative abnormality Inferred relationship Some 1
Pseudoxanthoma elasticum due to hemoglobinopathy Associated morphology True Degenerative abnormality Inferred relationship Some 1
Acquired perforating pseudoxanthoma elasticum of periumbilical region (disorder) Associated morphology True Degenerative abnormality Inferred relationship Some 1
Acquired perforating pseudoxanthoma elasticum of periumbilical region (disorder) Associated morphology True Degenerative abnormality Inferred relationship Some 2
Break of retina with schisis of retina (disorder) Associated morphology True Degenerative abnormality Inferred relationship Some 1
Multiple breaks of retina with schisis of retina (disorder) Associated morphology True Degenerative abnormality Inferred relationship Some 1
Adult degenerative scoliosis deformity of spine (disorder) Associated morphology True Degenerative abnormality Inferred relationship Some 2
Alzheimer's disease with psychosis Associated morphology True Degenerative abnormality Inferred relationship Some 1
Amyotrophic lateral sclerosis with spinocerebellar ataxia (disorder) Associated morphology True Degenerative abnormality Inferred relationship Some 1
Amyotrophic lateral sclerosis with spinocerebellar ataxia (disorder) Associated morphology True Degenerative abnormality Inferred relationship Some 2
Amyotrophic lateral sclerosis with frontotemporal dementia (disorder) Associated morphology True Degenerative abnormality Inferred relationship Some 1
Amyotrophic lateral sclerosis with frontotemporal dementia (disorder) Associated morphology True Degenerative abnormality Inferred relationship Some 2
Amyotrophic lateral sclerosis with multiple system atrophy Associated morphology True Degenerative abnormality Inferred relationship Some 1
Autoimmune cerebellar degeneration Associated morphology True Degenerative abnormality Inferred relationship Some 1
Autosomal dominant complex hereditary spastic paraplegia (disorder) Associated morphology True Degenerative abnormality Inferred relationship Some 1
Dementia due to neurofilament inclusion body disease (disorder) Associated morphology True Degenerative abnormality Inferred relationship Some 2
Dementia due to neurofilament inclusion body disease (disorder) Associated morphology True Degenerative abnormality Inferred relationship Some 3
A rare genetic syndromic intellectual disability characterized by developmental delay, intellectual disability, ataxia, and, more variably, seizures and short stature. Behavioral abnormalities may also be observed, as well as variable facial and other dysmorphic features (such as broad nasal bridge, hypertelorism, almond-shaped eyes, high-arched palate, and anomalies of the fingers and toes). Brain imaging may reveal dilated ventricles, small corpus callosum, or posterior fossa abnormalities. Associated morphology True Degenerative abnormality Inferred relationship Some 1
A rare genetic syndromic intellectual disability characterized by developmental delay, intellectual disability, ataxia, and, more variably, seizures and short stature. Behavioral abnormalities may also be observed, as well as variable facial and other dysmorphic features (such as broad nasal bridge, hypertelorism, almond-shaped eyes, high-arched palate, and anomalies of the fingers and toes). Brain imaging may reveal dilated ventricles, small corpus callosum, or posterior fossa abnormalities. Associated morphology True Degenerative abnormality Inferred relationship Some 2
A rare genetic neurological disorder characterized by the association of congenital spastic paraplegia with global developmental delay and intellectual disability, ophthalmologic abnormalities (including nystagmus, reduced visual acuity, or hypermetropia), and obesity. Additional manifestations are brachy plagiocephaly and dysmorphic facial features. Brain imaging may show dilated ventricles, abnormal myelination, and mild generalized atrophy. Homozygous loss-of-function variants of KIDINS220 associated with a fetal lethal phenotype with ventriculomegaly and limb contractures have been reported. Associated morphology True Degenerative abnormality Inferred relationship Some 1
Frontotemporal dementia due to TARDBP mutation Associated morphology True Degenerative abnormality Inferred relationship Some 1
Frontotemporal dementia due to TARDBP mutation Associated morphology True Degenerative abnormality Inferred relationship Some 2
Frontotemporal dementia due to VCP mutation (disorder) Associated morphology True Degenerative abnormality Inferred relationship Some 1
Frontotemporal dementia due to VCP mutation (disorder) Associated morphology True Degenerative abnormality Inferred relationship Some 2
Frontotemporal dementia due to C9orf72 mutation (disorder) Associated morphology True Degenerative abnormality Inferred relationship Some 1
Frontotemporal dementia due to C9orf72 mutation (disorder) Associated morphology True Degenerative abnormality Inferred relationship Some 2
Frontotemporal dementia due to FUS mutation Associated morphology True Degenerative abnormality Inferred relationship Some 1
Frontotemporal dementia due to FUS mutation Associated morphology True Degenerative abnormality Inferred relationship Some 2
Frontal variant non-amnestic Alzheimer disease (disorder) Associated morphology True Degenerative abnormality Inferred relationship Some 1
Logopenic non-amnestic Alzheimer disease (disorder) Associated morphology True Degenerative abnormality Inferred relationship Some 1
A rare severe neurodegenerative disorder that is considered one of the phenocopies of Huntington Disease (HD) affecting patients of African descent and characterized by a triad of movement (chorea, oculomotor, parkinsonism), psychiatric (prominently sadness, irritability and anxiety), and cognitive abnormalities (early cognitive decline and subcortical-like dementia). Associated morphology True Degenerative abnormality Inferred relationship Some 1
Central cord syndrome due to cervical spondylosis Associated morphology True Degenerative abnormality Inferred relationship Some 1
A rare autosomal dominant cerebellar ataxia characterized by slowly progressive late-onset cerebellar ataxia, variably combined with sensory axonal neuropathy. Patients may present gait and limb ataxia, dysarthria, abnormal oculomotor function, and distal sensory impairment. Cerebellar atrophy is typically mild or absent. Associated morphology True Degenerative abnormality Inferred relationship Some 1
A rare autosomal dominant cerebellar ataxia characterized by slowly progressive late-onset cerebellar ataxia, variably combined with sensory axonal neuropathy. Patients may present gait and limb ataxia, dysarthria, abnormal oculomotor function, and distal sensory impairment. Cerebellar atrophy is typically mild or absent. Associated morphology True Degenerative abnormality Inferred relationship Some 2
A rare autosomal dominant cerebellar ataxia characterized by slowly progressive late-onset gait and limb ataxia, dysarthria, and variable nystagmus. Brain imaging reveals cerebellar atrophy. Associated morphology True Degenerative abnormality Inferred relationship Some 1
A rare mitochondrial disease characterized by onset of episodic developmental regression in the first year of life, often in the setting of febrile illnesses, as well as hypotonia and seizures or refractory epileptic encephalopathy. Other observed features include ataxia, dystonia, or optic atrophy, among others. Patients do not achieve independent ambulation or meaningful speech. Brain imaging may show progressive cerebellar or diffuse atrophy and signal abnormalities of the basal ganglia. Serum lactate is often elevated. Associated morphology True Degenerative abnormality Inferred relationship Some 1
A rare primary bone dysplasia characterized by microcephaly, developmental delay and intellectual disability, sensorineural hearing loss, retinal degeneration, and skeletal dysplasia. Musculoskeletal abnormalities include delayed ossification of epiphyses, spondyloepimetaphyseal dysplasia, short stature, severe spinal deformities, and severe joint laxity resulting in multiple joint dislocations. Associated morphology True Degenerative abnormality Inferred relationship Some 1
Degeneration of cornea of bilateral eyes (disorder) Associated morphology True Degenerative abnormality Inferred relationship Some 1
Degeneration of cornea of bilateral eyes (disorder) Associated morphology True Degenerative abnormality Inferred relationship Some 2
Degeneration of cornea of right eye (disorder) Associated morphology True Degenerative abnormality Inferred relationship Some 1
Degeneration of cornea of left eye (disorder) Associated morphology True Degenerative abnormality Inferred relationship Some 1
Defined as treatment-naive type 1 neovascularization detected with dye-based angiography or OCTA (optical coherence tomography angiography) that is not associated with clinical evidence of exudation. Associated morphology True Degenerative abnormality Inferred relationship Some 1
Peripheral exudative hemorrhagic chorioretinopathy Associated morphology True Degenerative abnormality Inferred relationship Some 2
A disorder characterized by the presence of RPE (retinal pigment epithelium) disruption within the posterior pole over regions of choroidal thickening in eyes, showing no evidence of active or prior CSC (central serous chorioretinopathy). Associated morphology True Degenerative abnormality Inferred relationship Some 1
The occurrence of type 1 subretinal pigment epithelium neovascularization lacking aneurysmal dilations (polyps) in eyes with pachychoroid disease. Associated morphology True Degenerative abnormality Inferred relationship Some 1
Secondary osteoarthritis of knee joint (disorder) Associated morphology False Degenerative abnormality Inferred relationship Some 1
Secondary osteoarthritis of joint of bilateral hands (disorder) Associated morphology False Degenerative abnormality Inferred relationship Some 1
Secondary osteoarthritis of joint of bilateral hands (disorder) Associated morphology False Degenerative abnormality Inferred relationship Some 2
Secondary osteoarthritis of left wrist Associated morphology False Degenerative abnormality Inferred relationship Some 1
Secondary osteoarthritis of joint of right wrist (disorder) Associated morphology False Degenerative abnormality Inferred relationship Some 1
Secondary osteoarthritis of joint of left hand (disorder) Associated morphology False Degenerative abnormality Inferred relationship Some 1
Secondary osteoarthritis of joint of right hand (disorder) Associated morphology False Degenerative abnormality Inferred relationship Some 1
Secondary osteoarthritis of joint of wrist (disorder) Associated morphology False Degenerative abnormality Inferred relationship Some 1
Secondary osteoarthritis of joint of hand (disorder) Associated morphology False Degenerative abnormality Inferred relationship Some 1
Secondary osteoarthritis of joint of bilateral wrists (disorder) Associated morphology False Degenerative abnormality Inferred relationship Some 1
Secondary osteoarthritis of joint of bilateral wrists (disorder) Associated morphology False Degenerative abnormality Inferred relationship Some 2
Secondary osteoarthritis of joint of bilateral feet (disorder) Associated morphology False Degenerative abnormality Inferred relationship Some 1
Secondary osteoarthritis of joint of bilateral feet (disorder) Associated morphology False Degenerative abnormality Inferred relationship Some 2
Secondary osteoarthritis of joints of bilateral ankles (disorder) Associated morphology False Degenerative abnormality Inferred relationship Some 1
Secondary osteoarthritis of joints of bilateral ankles (disorder) Associated morphology False Degenerative abnormality Inferred relationship Some 2
Secondary osteoarthritis of joint of left foot (disorder) Associated morphology False Degenerative abnormality Inferred relationship Some 1
Secondary osteoarthritis of joint of right foot (disorder) Associated morphology False Degenerative abnormality Inferred relationship Some 1
Secondary osteoarthritis of joint of foot (disorder) Associated morphology False Degenerative abnormality Inferred relationship Some 1
Secondary osteoarthritis of joint of left ankle (disorder) Associated morphology False Degenerative abnormality Inferred relationship Some 1
Secondary osteoarthritis of joint of right ankle (disorder) Associated morphology False Degenerative abnormality Inferred relationship Some 1
Tendinosis of right wrist Associated morphology True Degenerative abnormality Inferred relationship Some 1
Tendinosis of left wrist Associated morphology True Degenerative abnormality Inferred relationship Some 1
Bilateral tendinosis of wrists Associated morphology True Degenerative abnormality Inferred relationship Some 1
Bilateral tendinosis of wrists Associated morphology True Degenerative abnormality Inferred relationship Some 2

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