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13331008: Atrophy (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
22797016 Atrophy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
737978016 Atrophy (morphologic abnormality) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
1220945019 Atrophic en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

50 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Atrophy Is a Degenerative abnormality false Inferred relationship Some
Atrophy Is a Degeneration false Inferred relationship Some
Atrophy Is a Degenerative abnormality true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Noncystic peripheral retinal tuft (disorder) Associated morphology True Atrophy Inferred relationship Some 2
A rare systemic disorder characterised by vitreoretinal and macular degeneration, as well as occipital encephalocele. Associated morphology True Atrophy Inferred relationship Some 5
A rare, genetic, vitreoretinal degeneration characterized by a slowly progressive vitreoretinopathy with onset during the second or third decade of life. The disease initially presents as autoimmune uveitis with reduction in the b-wave on electroretinography, and progresses with development of photoreceptor degeneration, vitreous hemorrhage, cystoid macular edema, retinal neovascularization, intraocular fibrosis, secondary glaucoma, and retinal detachment leading to phthisis and complete blindness. Associated morphology True Atrophy Inferred relationship Some 1
Folliculitis cruris pustulosa atrophicans (disorder) Associated morphology True Atrophy Inferred relationship Some 1
Atrophy of macula lutea Associated morphology True Atrophy Inferred relationship Some 1
Zonular traction peripheral retinal tuft (disorder) Associated morphology True Atrophy Inferred relationship Some 3
Atrophic fibrosis of lung Associated morphology True Atrophy Inferred relationship Some 2
Cogan-Reese syndrome (disorder) Associated morphology True Atrophy Inferred relationship Some 1
Idiopathic atrophic hypothyroidism Associated morphology True Atrophy Inferred relationship Some 1
Lipoatrophy Associated morphology True Atrophy Inferred relationship Some 1
Widespread lipoatrophy (disorder) Associated morphology True Atrophy Inferred relationship Some 2
Lipoatrophy caused by antiretroviral drug Associated morphology True Atrophy Inferred relationship Some 1
Lipodystrophia centrifugalis abdominalis infantalis Associated morphology True Atrophy Inferred relationship Some 1
Semicircular lipoatrophy Associated morphology True Atrophy Inferred relationship Some 1
A rare localised lipodystrophy characterised by the appearance of asymptomatic, well-demarcated, variably sized, depressed, lipoatrophic lesions secondary to subcutaneous, intradermic or intramuscular drug injection, including corticosteroids, insulin, human growth hormone and antibiotics. Skin colouration may vary from white or hypopigmented to reddish, pinkish or violaceous. Epidermal atrophy may be also present. Associated morphology True Atrophy Inferred relationship Some 1
Lipoatrophy caused by injected corticosteroid Associated morphology True Atrophy Inferred relationship Some 1
Secondary vitreoretinal degeneration Associated morphology True Atrophy Inferred relationship Some 2
A rare, genetic, endocrine disorder characterised by type I diabetes mellitus (DM), diabetes insipidus (DI), sensorineural deafness (D), bilateral optical atrophy (OA) and neurological signs. Associated morphology True Atrophy Inferred relationship Some 6
Insulin lipoatrophy Associated morphology True Atrophy Inferred relationship Some 1
Localised lipoatrophy Associated morphology True Atrophy Inferred relationship Some 1
Severe systemic illness-induced intestinal villous atrophy Associated morphology True Atrophy Inferred relationship Some 3
Localized idiopathic lipoatrophy Associated morphology True Atrophy Inferred relationship Some 1
Lipoatrophy and lipodystrophy Associated morphology True Atrophy Inferred relationship Some 1
Vitiligo iridis Associated morphology True Atrophy Inferred relationship Some 2
Atrophy of iris of bilateral eyes (disorder) Associated morphology True Atrophy Inferred relationship Some 1
Atrophy of iris of bilateral eyes (disorder) Associated morphology True Atrophy Inferred relationship Some 2
Vitreoretinal tuft of bilateral eyes (disorder) Associated morphology True Atrophy Inferred relationship Some 1
Vitreoretinal tuft of bilateral eyes (disorder) Associated morphology True Atrophy Inferred relationship Some 2
Vitreoretinal tuft of bilateral eyes (disorder) Associated morphology True Atrophy Inferred relationship Some 3
Vitreoretinal tuft of bilateral eyes (disorder) Associated morphology True Atrophy Inferred relationship Some 4
Bilateral phthisis bulbi Associated morphology True Atrophy Inferred relationship Some 1
Bilateral phthisis bulbi Associated morphology True Atrophy Inferred relationship Some 2
Huntington's chorea Associated morphology True Atrophy Inferred relationship Some 3
Juvenile onset Huntington's disease (disorder) Associated morphology True Atrophy Inferred relationship Some 5
Late onset Huntington's disease Associated morphology True Atrophy Inferred relationship Some 5
Akinetic-rigid form of Huntington's disease Associated morphology True Atrophy Inferred relationship Some 5
Atrophic nonflaccid left tympanic membrane Associated morphology True Atrophy Inferred relationship Some 1
Atrophic nonflaccid right tympanic membrane (disorder) Associated morphology True Atrophy Inferred relationship Some 1
Atrophy of muscle of bilateral forearms (disorder) Associated morphology True Atrophy Inferred relationship Some 1
Atrophy of muscle of bilateral forearms (disorder) Associated morphology True Atrophy Inferred relationship Some 2
Atrophy of muscle of right foot Associated morphology True Atrophy Inferred relationship Some 1
Atrophy of muscle of left foot (disorder) Associated morphology True Atrophy Inferred relationship Some 1
Atrophy of muscle of right forearm (disorder) Associated morphology True Atrophy Inferred relationship Some 1
Atrophy of muscle of left forearm (disorder) Associated morphology True Atrophy Inferred relationship Some 1
Atrophy of muscle of bilateral upper arms (disorder) Associated morphology True Atrophy Inferred relationship Some 1
Atrophy of muscle of bilateral upper arms (disorder) Associated morphology True Atrophy Inferred relationship Some 2
Atrophy of muscle of bilateral thighs (disorder) Associated morphology True Atrophy Inferred relationship Some 1
Atrophy of muscle of bilateral thighs (disorder) Associated morphology True Atrophy Inferred relationship Some 2
Traumatic iris atrophy Associated morphology True Atrophy Inferred relationship Some 1
Idiopathic atrophy of nail in childhood (disorder) Associated morphology True Atrophy Inferred relationship Some 1
Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly is a rare, central nervous system malformation syndrome characterized by progressive microcephaly with profound motor delay and intellectual disability, associated with hypertonia, spasticity, clonus, and seizures, with brain imaging revealing severe cerebral and cerebellar atrophy, and poor myelination. Associated morphology True Atrophy Inferred relationship Some 1
Autosomal recessive Charcot-Marie-Tooth disease type 2 Associated morphology True Atrophy Inferred relationship Some 1
Autosomal dominant Charcot-Marie-Tooth disease type 2 Associated morphology True Atrophy Inferred relationship Some 1
A rare, genetic neurological disorder characterized by early-onset severe global developmental delay with regression, congenital or acquired microcephaly, hearing loss, truncal hypotonia, appendicular spasticity, and dystonia and/or myoclonus. Associated morphology True Atrophy Inferred relationship Some 1
A rare autosomal dominant hereditary axonal motor and sensory neuropathy characterized by adult onset of slowly progressive distal muscle weakness and atrophy, sensory impairment, and hyporeflexia beginning in the lower limbs. Progressive gait disturbance may lead to loss of independent ambulation in some patients at a higher age. Associated morphology True Atrophy Inferred relationship Some 1
A rare mitochondrial disease characterized by signs and symptoms within a phenotypic and metabolic spectrum that includes global developmental delay, hypotonia, intellectual disability, optic atrophy, axonal neuropathy, hypertrophic cardiomyopathy, lactic acidosis, and increased excretion of Krebs cycle intermediates. Other variable features are spasticity, seizures, ataxia, congenital cataract, and dysmorphic facial features. Age of onset is in the neonatal period or infancy. Associated morphology True Atrophy Inferred relationship Some 1
A rare genetic neurodegenerative disease characterized by neonatal to infantile onset of hypotonia, developmental delay, regression of motor skills with distal amyotrophy, ataxia, and spasticity, absent speech or dysarthria, and moderate to severe cognitive impairment. Optic atrophy may also be associated. Brain imaging shows cerebellar atrophy and thin corpus callosum, as well as brain iron accumulation in the pallidum and substantia nigra beginning during the second decade of life. Associated morphology True Atrophy Inferred relationship Some 1
A rare genetic skeletal muscle disease characterized by neonatal to childhood onset of slowly progressive muscle weakness and atrophy primarily affecting the lower limbs, joint contractures, kyphosis or lordosis of the spine, lateral tongue atrophy, and pes equinus. Progression to upper limb involvement, facial weakness, language impairment, intellectual disability, and behavioral abnormalities have been reported in addition. Muscle biopsy shows myopathic changes with increased fiber size variation, internalized nuclei, fiber atrophy, as well as rod structures and core targetoid defects. Associated morphology True Atrophy Inferred relationship Some 3
A rare predominantly axonal hereditary motor and sensory neuropathy characterized by a broad phenotypic spectrum of slowly progressive signs and symptoms mainly affecting the lower limbs. Most patients present with gait difficulties and distal sensory impairment, while some may lack sensory symptoms altogether. Pes cavus is frequently reported. Age of onset is also highly variable, ranging from childhood to late adulthood. Associated morphology True Atrophy Inferred relationship Some 1
A rare autosomal dominant hereditary axonal motor and sensory neuropathy characterized by childhood onset of slowly progressive distal muscle weakness and atrophy primarily affecting the lower limbs, associated with sensory impairment and ataxia presenting with an unsteady, broad-based gait and frequent falls. Additional signs include decreased deep tendon reflexes and hand tremor. Associated morphology True Atrophy Inferred relationship Some 1
Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome is a rare, genetic, neurological disorder characterized by mild to severe developmental delay and speech impairment, truncal hypotonia, abnormalities of vision (including cortical visual impairment and abnormal visual-evoked potentials), progressive brain atrophy mainly affecting the cerebellum, and shortened or atrophic corpus callosum. Other clinical findings may include increased muscle tone in the extremities, dystonic posturing, hyporeflexia, scoliosis, postnatal microcephaly and variable facial dysmorphism (e.g. deep-set eyes, gingival hyperplasia, short philtrum and retrognathia). Associated morphology True Atrophy Inferred relationship Some 1
A rare mitochondrial oxidative phosphorylation disorder characterized by microcephaly, global developmental delay, spastic-dystonic movement disorder, intractable seizures, optic atrophy, autonomic dysfunction, and peripheral neuropathy. Serum lactate is increased, and muscle biopsy shows decreased activity of mitochondrial respiratory complexes I and III. Brain imaging reveals progressive cerebellar atrophy and delayed myelination. Associated morphology True Atrophy Inferred relationship Some 1
A rare mitochondrial oxidative phosphorylation disorder characterized by a variable clinical phenotype including infantile onset of epileptic encephalopathy, hypotonia, global developmental delay, failure to thrive, complex movement disorder, and liver involvement, as well as childhood onset of severe myoclonus epilepsy, cognitive decline, progressive hearing and visual impairment, and progressive tetraparesis. Serum lactate may be increased, and brain imaging shows variable atrophy and white matter abnormalities. Associated morphology True Atrophy Inferred relationship Some 1
A rare genetic disease characterized by infantile onset of severe inflammatory bowel disease manifesting with bloody diarrhea and failure to thrive, and central nervous system disease with global developmental delay and regression, impaired speech, hypotonia, hyperreflexia, and epilepsy. Brain imaging shows global cerebral atrophy, thin corpus callosum, delayed myelination, and posterior leukoencephalopathy. Cases with recurrent infections and impaired T-cell responses to stimulation, as well as decreased T-cell subsets, have been reported. Associated morphology True Atrophy Inferred relationship Some 1
A rare autosomal recessive axonal hereditary motor and sensory neuropathy characterized by adult onset of slowly progressive distal muscle weakness and atrophy, sensory impairment, and decreased or absent deep tendon reflexes predominantly in the lower extremities. Patients present gait disturbances but remain ambulatory. Mild involvement of the upper limbs may be seen. Associated morphology True Atrophy Inferred relationship Some 1
A rare autosomal recessive axonal hereditary motor and sensory neuropathy characterized by childhood to adult onset of slowly progressive, sometimes asymmetric distal muscle weakness and atrophy, as well as sensory impairment, predominantly of the lower limbs. Additional common features include pes cavus, kyphoscoliosis, ankle contractures, tremor, or urogenital dysfunction. Fasciculations and proximal involvement may be seen in some cases. Patients usually remain ambulatory. Associated morphology True Atrophy Inferred relationship Some 2
A rare autosomal dominant hereditary axonal motor and sensory neuropathy characterized by early onset of generalized hypotonia and weakness, or later onset of distal lower limb muscle weakness and atrophy, cramps, and sensory impairment. Weakness and atrophy progress in an asymmetric fashion to involve also the proximal and upper limbs in the course of the disease. Additional features are pyramidal signs like increased muscle tone and extensor plantar reflexes, as well as learning difficulties. Associated morphology True Atrophy Inferred relationship Some 1
A rare, axonal hereditary motor and sensory neuropathy characterized by progressive distal muscle weakness and atrophy of variable onset and severity. Patients present with postural instability, gait and running difficulties, decreased deep tendon reflexes, foot deformities, fine motor impairment, and distal sensory impairment. Dysarthria, dysphagia, and mild cognitive and behavioral abnormalities have also been reported. Associated morphology True Atrophy Inferred relationship Some 1
A rare, axonal hereditary motor and sensory neuropathy characterized by adult onset of slowly progressive distal muscle weakness and atrophy, decreased deep tendon reflexes of lower limbs, and mild distal sensory loss leading to gait difficulties in most patients. Associated morphology True Atrophy Inferred relationship Some 1
A rare subtype of axonal hereditary motor and sensory neuropathy characterized by progressive distal muscle weakness and atrophy of both the lower and upper limbs, absent or reduced deep tendon reflexes, mild sensory loss, foot drop, and pes cavus leading eventually to wheelchair dependance. Some patients present with early hypotonia and delayed motor development. Scoliosis and variable autonomic disturbances may be associated. Associated morphology True Atrophy Inferred relationship Some 1
A rare, axonal hereditary motor and sensory neuropathy characterized by adult onset of recurrent pain in legs with or without cramps, progressive loss of deep tendon reflexes and vibration sense, paresthesia in the feet and later in the hands. Patients often experience sleep disturbances and mild sensory ataxia. Associated morphology True Atrophy Inferred relationship Some 1
A rare autosomal dominant hereditary axonal motor and sensory neuropathy characterized by predominantly distal weakness and muscle atrophy, decreased or absent tendon reflexes, and reduced vibratory sensation in the lower and upper extremities. Pes cavus develops in many patients. Additional symptoms like ataxia, tremor, or swallowing difficulties have been reported. Patients usually remain ambulatory even late in the disease. Age of onset ranges from childhood to adulthood, with earlier onset tending to be associated with a more severe disease phenotype. Associated morphology True Atrophy Inferred relationship Some 1
A rare autosomal recessive axonal hereditary motor and sensory neuropathy characterized by adolescent or adult onset of slowly progressive muscle weakness and atrophy of the distal lower limbs progressing to involve also the upper limbs and proximal muscles, and sensory impairment. Patients present gait disturbances and loss of reflexes, at later stages loss of ambulation, dysarthria, dysphagia, facial weakness, and impairment of respiratory muscles requiring assisted ventilation. Associated morphology True Atrophy Inferred relationship Some 1
A rare hereditary optic atrophy characterised by an early onset of bilateral optic nerve degeneration without other systemic features. Clinical manifestations include pallor of the optic discs, severe but slowly progressing visual impairment, and in some patients also paracentral scotoma, photophobia and dyschromatopsia. Associated morphology True Atrophy Inferred relationship Some 1
A rare hereditary optic atrophy characterised by an early onset of bilateral optic nerve degeneration without other systemic features. Clinical manifestations include pallor of the optic discs, severe but slowly progressing visual impairment, and in some patients also paracentral scotoma, photophobia and dyschromatopsia. Associated morphology True Atrophy Inferred relationship Some 2
A rare genetic eye disease characterized by optic disc anomalies (bilateral colobomatous optic discs, retinal vessels arising from the peripheral optic disc) and macular atrophy. Peripapillary chorioretinal atrophy and chorioretinal and iris coloboma have also been described. Patients present with horizontal nystagmus and poor visual acuity. Associated morphology True Atrophy Inferred relationship Some 1
Muscle atrophy of right ankle Associated morphology True Atrophy Inferred relationship Some 1
Muscle atrophy of left ankle Associated morphology True Atrophy Inferred relationship Some 1
Bilateral muscle atrophy of ankles Associated morphology True Atrophy Inferred relationship Some 1
Bilateral muscle atrophy of ankles Associated morphology True Atrophy Inferred relationship Some 2
Atrophy of muscle of bilateral shoulder regions (disorder) Associated morphology True Atrophy Inferred relationship Some 1
Atrophy of muscle of bilateral shoulder regions (disorder) Associated morphology True Atrophy Inferred relationship Some 2
Bilateral muscle atrophy of feet Associated morphology True Atrophy Inferred relationship Some 1
Bilateral muscle atrophy of feet Associated morphology True Atrophy Inferred relationship Some 2
A rare, acquired, dermis elastic tissue disorder with decreased elastic tissue characterized by multiple, asymptomatic, well demarcated, flat, hypopigmented atrophic macular skin lesions distributed over upper trunk and proximal upper limbs. Histopathological examination reveals atrophic epidermis with decreased basal pigmentation, perivascular mononuclear infiltration in the upper dermis, and disorganized, hyalinized, coarse collagen bundles, and variable loss of elastic fibers in the dermis. Associated morphology True Atrophy Inferred relationship Some 1
A rare genetic neurological disorder characterized by postnatal onset of severe global developmental delay, profound mental retardation, progressive microcephaly, progressive spasticity evolving into spastic quadriplegia with joint contractures, generalized seizures, and irritability. Severe choreoathetosis and dysmorphic features are absent. Brain imaging shows progressive cerebellar atrophy followed by cerebral atrophy affecting both white and gray matter, but no pontine involvement. Associated morphology True Atrophy Inferred relationship Some 1
A rare genetic neurological disorder characterized by postnatal onset of severe global developmental delay, profound mental retardation, progressive microcephaly, progressive spasticity evolving into spastic quadriplegia with joint contractures, generalized seizures, and irritability. Severe choreoathetosis and dysmorphic features are absent. Brain imaging shows progressive cerebellar atrophy followed by cerebral atrophy affecting both white and gray matter, but no pontine involvement. Associated morphology True Atrophy Inferred relationship Some 2
A rare, genetic, neuromuscular disease characterized by adult-onset muscle weakness and atrophy in a scapuloperoneal distribution, mild involvement of the facial muscles, dysphagia, and gynecomastia. Elevated serum CK levels and mixed myopathic and neurogenic abnormalities are associated clinical findings. Associated morphology True Atrophy Inferred relationship Some 1
A rare, genetic, neuromuscular disease characterized by adult-onset muscle weakness and atrophy in a scapuloperoneal distribution, mild involvement of the facial muscles, dysphagia, and gynecomastia. Elevated serum CK levels and mixed myopathic and neurogenic abnormalities are associated clinical findings. Associated morphology True Atrophy Inferred relationship Some 2
Atrophy of multiple endocrine glands (disorder) Associated morphology True Atrophy Inferred relationship Some 1
Atrophy of adrenal cortex (disorder) Associated morphology True Atrophy Inferred relationship Some 1
A rare, genetic, syndromic intellectual disability characterized by global developmental delay, early-onset seizures, cerebellar atrophy, osteopenia, nystagmus and dysmorphic facial features, including bitemporal narrowing, prominent forehead, anteverted nares. Dysarthria, dysmetria, ataxic gait, spasticity and dysmorphic features have also been associated. Associated morphology True Atrophy Inferred relationship Some 1
A rare mitochondrial disease characterized by bilateral auditory neuropathy and optic atrophy. Patients present hearing and visual impairment in the first or second decade of life, while psychomotor development is normal. Bilateral retinitis pigmentosa has been reported in association. Associated morphology True Atrophy Inferred relationship Some 1
A rare mitochondrial disease characterized by a variable clinical phenotype with the core features of optic atrophy, ataxia, and hypotonia. Additional common manifestations include global developmental delay with or without regression, neuropathy, spasticity, and microcephaly, less frequently seizures, movement disorder, hearing loss, and respiratory failure. Brain imaging may show abnormalities of the corpus callosum, basal ganglia, and midbrain, cerebral or cerebellar atrophy, or white matter abnormalities. The condition is frequently fatal at an early age. Associated morphology True Atrophy Inferred relationship Some 1
Atrophy of globe of eye Associated morphology True Atrophy Inferred relationship Some 1
Phthisis bulbi Associated morphology True Atrophy Inferred relationship Some 1
A rare congenital optic disc excavation characterised by deep fundus excavation of chorioretinal atrophy surrounding a relatively normal appearing optic disc. Retinal vasculature is normal, and retinochoroidal coloboma and glial anomalies are absent. Patients present with mostly unilateral markedly reduced visual acuity. Association with other congenital defects or systemic diseases is uncommon. Associated morphology True Atrophy Inferred relationship Some 2
A rare congenital optic disc excavation characterised by deep fundus excavation of chorioretinal atrophy surrounding a relatively normal appearing optic disc. Retinal vasculature is normal, and retinochoroidal coloboma and glial anomalies are absent. Patients present with mostly unilateral markedly reduced visual acuity. Association with other congenital defects or systemic diseases is uncommon. Associated morphology True Atrophy Inferred relationship Some 3
Right globe atrophy Associated morphology True Atrophy Inferred relationship Some 1
Atrophy of left eye (disorder) Associated morphology True Atrophy Inferred relationship Some 1
Placenta fenestrata Associated morphology True Atrophy Inferred relationship Some 1

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