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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
1083641000241115 atrophie fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

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 dégénérescence false Inferred relationship Some
Atrophy Is a Degenerative abnormality true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Chorioretinal atrophy Associated morphology True Atrophy Inferred relationship Some 3
Gyrate atrophy Associated morphology True Atrophy Inferred relationship Some 2
Pigmented paravenous retinochoroidal atrophy (PPRCA) is a rare, commonly bilateral and symmetric retinal disease characterized by non-progressive or slowly progressive chorioretinal atrophy, peripapillary pigmentary changes and accumulation of bone-corpuscle pigmentation along the retinal veins and which is usually asymptomatic or can present with mild blurred vision. Associated morphology True Atrophy Inferred relationship Some 2
Pigmented paravenous retinochoroidal atrophy (PPRCA) is a rare, commonly bilateral and symmetric retinal disease characterized by non-progressive or slowly progressive chorioretinal atrophy, peripapillary pigmentary changes and accumulation of bone-corpuscle pigmentation along the retinal veins and which is usually asymptomatic or can present with mild blurred vision. Associated morphology True Atrophy Inferred relationship Some 3
A rare, genetic, developmental defect during embryogenesis syndrome characterized by generalized keratosis follicularis, severe proportionate dwarfism and cerebral atrophy. Alopecia (of scalp, eyebrows and eyelashes) and microcephaly are additionally observed features. Intellectual disability, inguinal hernia and epilepsy may also be associated. There have been no further descriptions in the literature since 1974. Associated morphology False Atrophy Inferred relationship Some 6
Helicoid peripapillary chorioretinal degeneration is a rare autosomal dominantly inherited chorioretinal degeneration disease, presenting at birth or infancy, characterized by progressive bilateral retinal and choroidal atrophy, appearing as lesions on the optic nerve and peripheral ocular fundus and leading to central vision loss. Congenital anterior polar cataracts are sometimes associated with this disease. Associated morphology True Atrophy Inferred relationship Some 2
Helicoid peripapillary chorioretinal degeneration is a rare autosomal dominantly inherited chorioretinal degeneration disease, presenting at birth or infancy, characterized by progressive bilateral retinal and choroidal atrophy, appearing as lesions on the optic nerve and peripheral ocular fundus and leading to central vision loss. Congenital anterior polar cataracts are sometimes associated with this disease. Associated morphology True Atrophy Inferred relationship Some 3
A severe, early-onset form of axonal CMT peripheral sensorimotor polyneuropathy. Associated morphology True Atrophy Inferred relationship Some 2
Charcot-Marie-Tooth disease, type 2B1 (CMT2B1, also referred to as CMT4C1) is an axonal CMT peripheral sensorimotor polyneuropathy. Associated morphology True Atrophy Inferred relationship Some 2
A rare disorder characterized by slowly progressive spasticity, extrapyramidal movement disorders (dystonia, choreoathetosis and rigidity), cerebellar ataxia, moderate to severe cognitive deficit, and anarthria/dysarthria. Associated morphology False Atrophy Inferred relationship Some 5
A rare disorder characterized by slowly progressive spasticity, extrapyramidal movement disorders (dystonia, choreoathetosis and rigidity), cerebellar ataxia, moderate to severe cognitive deficit, and anarthria/dysarthria. Associated morphology False Atrophy Inferred relationship Some 7
A disorder that is characterized by the association of a non-progressive congenital ataxia, severe intellectual deficit, optic atrophy and structural anomalies of the skin vessels. It has been described in five children from a large consanguineous Lebanese family. Short stature and microcephaly were also reported. Transmission is autosomal recessive. Associated morphology False Atrophy Inferred relationship Some 5
Neuralgic amyotrophy of left brachial plexus (disorder) Associated morphology False Atrophy Inferred relationship Some 2
Neuralgic amyotrophy of left brachial plexus (disorder) Associated morphology True Atrophy Inferred relationship Some 1
Neuralgic amyotrophy of right brachial plexus (disorder) Associated morphology True Atrophy Inferred relationship Some 1
Neuralgic amyotrophy of right brachial plexus (disorder) Associated morphology False Atrophy Inferred relationship Some 3
Congenital onychoatrophy (disorder) Associated morphology False Atrophy Inferred relationship Some 2
Atrophy of ear (disorder) Associated morphology True Atrophy Inferred relationship Some 1
A subtype of Autosomal dominant Charcot-Marie-Tooth disease type 2 characterized by the childhood onset of distal weakness and areflexia (with earlier and more severe involvement of the lower extremities), reduced sensory modalities (primarily pain and temperature sensation), foot deformities, postural tremor, scoliosis and contractures. Optic atrophy, vocal cord palsy with dysphonia, sensorineural hearing loss, spinal cord abnormalities and hydrocephalus have also been reported. Associated morphology True Atrophy Inferred relationship Some 1
A rare form of axonal peripheral sensorimotor neuropathy characterized by classical CMT2 signs and symptoms (progressive weakness and atrophy of distal limb muscles, mild sensory deficits of position, vibration and pain/temperature, pes cavus, and symmetrically absent or reduced muscle and sensory action potentials with relatively preserved nerve conduction velocities in neurophysiological studies) as well as pyramidal tract involvement (spasticity, hyperreflexia). Spasticity and pain may be the presenting symptoms. Associated morphology True Atrophy Inferred relationship Some 1
A subtype of autosomal dominant Charcot-Marie-Tooth disease type 2, characterized by late adult-onset (50-60 years of age) of slowly progressive, axonal, peripheral sensorimotor neuropathy resulting in distal upper limb and proximal and distal lower limb muscle weakness and atrophy, in conjunction with distal, panmodal sensory impairment in upper and lower limbs. Tendon reflexes are reduced and nerve conduction velocities range from reduced to absent. Neuropathic pain has also been associated. Associated morphology True Atrophy Inferred relationship Some 1
Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome (disorder) Associated morphology True Atrophy Inferred relationship Some 1
Atrophy of left kidney Associated morphology True Atrophy Inferred relationship Some 1
Atrophy of right kidney Associated morphology True Atrophy Inferred relationship Some 1
Senile involution of ovary (disorder) Associated morphology False Atrophy Inferred relationship Some 2
Senile involution of ovary (disorder) Associated morphology False Atrophy Inferred relationship Some 1
Acquired atrophy of uterus Associated morphology True Atrophy Inferred relationship Some 1
Senile involution of ovary Associated morphology False Atrophy Inferred relationship Some 1
Acquired atrophy of ovary and fallopian tube Associated morphology True Atrophy Inferred relationship Some 2
Acquired atrophy of ovary and fallopian tube Associated morphology True Atrophy Inferred relationship Some 1
Acquired atrophy of fallopian tube Associated morphology True Atrophy Inferred relationship Some 1
Acquired cerebral atrophy (disorder) Associated morphology True Atrophy Inferred relationship Some 1
A rare disorder characterized by slowly progressive spasticity, extrapyramidal movement disorders (dystonia, choreoathetosis and rigidity), cerebellar ataxia, moderate to severe cognitive deficit, and anarthria/dysarthria. Associated morphology True Atrophy Inferred relationship Some 3
A rare disorder characterized by slowly progressive spasticity, extrapyramidal movement disorders (dystonia, choreoathetosis and rigidity), cerebellar ataxia, moderate to severe cognitive deficit, and anarthria/dysarthria. Associated morphology True Atrophy Inferred relationship Some 1
A rare combined immunodeficiency disorder characterized by primary immunodeficiency manifesting with repeated bacterial, viral and fungal infections, in association with neurological manifestations (hypotonia, cerebellar ataxia, myoclonic seizures), developmental delay, optic atrophy, facial dysmorphism (high forehead, hypoplastic supraorbital ridges, palpebral edema, hypertelorism, flat nasal bridge, broad nasal root and tip, anteverted nares, thin lower lip overlapped by upper lip, square chin) and skeletal anomalies (short metacarpals/metatarsals with cone-shaped epiphyses, osteopenia). 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 2
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 False Atrophy Inferred relationship Some 3
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 2
A rare axonal hereditary motor and sensory neuropathy characterized by infantile onset of slowly progressive distal motor weakness and atrophy (more severe in legs and moderate in arms) with mildly delayed motor development, hypotonia, and distal sensory impairment of all sensory modalities. Associated morphology True Atrophy Inferred relationship Some 1
Lattice degeneration of right retina (disorder) Associated morphology False Atrophy Inferred relationship Some 1
Lattice degeneration of left retina (disorder) Associated morphology False Atrophy Inferred relationship Some 1
Lattice degeneration of bilateral retinas (disorder) Associated morphology False Atrophy Inferred relationship Some 2
Lattice degeneration of bilateral retinas (disorder) Associated morphology False Atrophy Inferred relationship Some 1
Optic atrophy of left eye Associated morphology True Atrophy Inferred relationship Some 1
Optic atrophy of right eye Associated morphology True Atrophy Inferred relationship Some 1
Optic atrophy of bilateral eyes (disorder) Associated morphology True Atrophy Inferred relationship Some 2
Optic atrophy of bilateral eyes (disorder) Associated morphology True Atrophy Inferred relationship Some 1
A rare, genetic, X-linked syndromic intellectual disability disorder characterized by severe intellectual disability, microcephaly, post-natal growth retardation, severe visual impairment or blindness (due to optic atrophy), severe hearing defect, spasticity, epileptic seizures, restricted large-joint movements and early death (in infancy or early childhood). Facial dysmorphic features (large dysplastic ears and short broad nose) are additionally observed. There have been no further descriptions in the literature since 1993. Associated morphology True Atrophy Inferred relationship Some 3
A rare, genetic, developmental defect during embryogenesis syndrome characterized by generalized keratosis follicularis, severe proportionate dwarfism and cerebral atrophy. Alopecia (of scalp, eyebrows and eyelashes) and microcephaly are additionally observed features. Intellectual disability, inguinal hernia and epilepsy may also be associated. There have been no further descriptions in the literature since 1974. Associated morphology True Atrophy Inferred relationship Some 1
Intellectual disability-developmental delay-contractures syndrome, formerly known as Wieacker-Wolff syndrome, is a severe X-linked recessive neurodevelopmental disorder characterized by severe contractures and intellectual disability. Associated morphology True Atrophy Inferred relationship Some 1
A disorder that is characterized by the association of a non-progressive congenital ataxia, severe intellectual deficit, optic atrophy and structural anomalies of the skin vessels. It has been described in five children from a large consanguineous Lebanese family. Short stature and microcephaly were also reported. Transmission is autosomal recessive. Associated morphology True Atrophy Inferred relationship Some 2
A rare ectodermal dysplasia syndrome, characterized by the association of choroidal atrophy (sometimes regional), together with other ectodermal dysplasia features including fine and sparse hair, absent or decreased lashes and eyebrows, and possibly mild visual loss and dysplastic/thick/grooved nails. Associated morphology True Atrophy Inferred relationship Some 1
An X-linked syndromic intellectual disability characterized by intellectual disability, subcortical cerebral atrophy, dental anomalies, patella luxation, lower back skin dimple, and dysmorphic facial features. Associated morphology True Atrophy Inferred relationship Some 2
A rare subtype of autosomal dominant Charcot-Marie-Tooth disease type 2, characterized by adolescent to adulthood-onset of symmetrical, slowly progressive distal muscle weakness and atrophy (with a predominant weakness of the distal lower limbs) associated with reduced or absent deep tendon reflexes, pes cavus and mild to moderated deep sensory impairment. Associated morphology True Atrophy Inferred relationship Some 1
Syphilitic optic atrophy (disorder) Associated morphology True Atrophy Inferred relationship Some 1
A rare autosomal recessive axonal hereditary motor and sensory neuropathy characterized by early-onset axial hypotonia, generalized muscle weakness, absent deep tendon reflexes and decreased muscle mass. Electromyography reveals decreased motor nerve conduction velocities with markedly reduced sensory and motor amplitudes. Associated morphology True Atrophy Inferred relationship Some 1
Bilateral atrophy of muscle of lower legs Associated morphology True Atrophy Inferred relationship Some 2
Bilateral atrophy of muscle of lower legs Associated morphology True Atrophy Inferred relationship Some 1
Atrophy of muscle of left lower leg (disorder) Associated morphology True Atrophy Inferred relationship Some 1
Atrophy of muscle of right hand (disorder) Associated morphology True Atrophy Inferred relationship Some 1
Atrophy of muscle of left thigh Associated morphology True Atrophy Inferred relationship Some 1
Atrophy of muscle of left shoulder Associated morphology True Atrophy Inferred relationship Some 1
Atrophy of muscle of right lower leg (disorder) Associated morphology True Atrophy Inferred relationship Some 1
Atrophy of muscle of left upper arm (disorder) Associated morphology True Atrophy Inferred relationship Some 1
Atrophy of muscle of right thigh Associated morphology True Atrophy Inferred relationship Some 1
Atrophy of muscle of right shoulder (disorder) Associated morphology True Atrophy Inferred relationship Some 1
Atrophy of muscle of left hand (disorder) Associated morphology True Atrophy Inferred relationship Some 1
Atrophy of muscle of right upper arm (disorder) Associated morphology True Atrophy Inferred relationship Some 1
A rare syndromic chorioretinal dystrophy characterized by childhood onset of mild to severe myopia with microcornea and chorioretinal atrophy, typically associated with telecanthus and posteriorly rotated ears. Other variable features include early-onset cataracts, ectopia lentis, ectopia pupillae and retinal detachment. Associated morphology True Atrophy Inferred relationship Some 2
A rare syndromic chorioretinal dystrophy characterized by childhood onset of mild to severe myopia with microcornea and chorioretinal atrophy, typically associated with telecanthus and posteriorly rotated ears. Other variable features include early-onset cataracts, ectopia lentis, ectopia pupillae and retinal detachment. Associated morphology True Atrophy Inferred relationship Some 3
A rare, genetic, neurodegenerative disorder characterized by ventriculomegaly and progressive, symmetrical atrophy of the cerebral cortex gray and white matter (sparing the midbrain, brainstem, cerebellum and infratentorial segments), manifesting in early infancy with acquired microcephaly, irritability, regression of developmental milestones, feeding difficulties, akathisia, exaggerated startle response, spasticity (fisted hands, stiff arms, leg scissoring), abnormal muscle tone with hypotonic trunk and hypertonic extremities, visual impairment and seizures. Associated morphology True Atrophy Inferred relationship Some 1
Congenital onychoatrophy (disorder) Associated morphology True Atrophy Inferred relationship Some 1
A rare subtype of axonal hereditary motor and sensory neuropathy characterized by distal muscle weakness and atrophy (principally of peroneal muscles) associated with distal sensory loss (tactile, vibration), pes cavus present since infancy or childhood, and axonal swelling with neurofilament accumulation on nerve biopsy. Other features may include hand muscle involvement, hypo/areflexia, gait disturbances, muscle cramps, toe abnormalities and mild cardiomyopathy. Associated morphology True Atrophy Inferred relationship Some 1
A rare, genetic, subtype of autosomal dominant Charcot-Marie-Tooth disease type 2 characterized by early childhood-onset of slowly progressive, predominantly distal, lower limb muscle weakness and atrophy, delayed motor development, variable sensory loss, and pes cavus in the presence of normal or near-normal nerve conduction velocities. Additional variable features may include proximal muscle weakness, abnormal gait, arthrogryposis, scoliosis, cognitive impairment, and spasticity. Associated morphology True Atrophy Inferred relationship Some 1
Post-atrophic hyperplasia (morphologic abnormality) Is a True Atrophy Inferred relationship Some
A rare, genetic, autosomal recessive spastic ataxia disease characterized by onset in early childhood of spastic paraparesis, cerebellar ataxia, dysarthria and optic atrophy. Associated morphology True Atrophy Inferred relationship Some 1
Paving stone retinal degeneration of right eye (disorder) Associated morphology False Atrophy Inferred relationship Some 2
Bilateral paving stone retinal degeneration Associated morphology False Atrophy Inferred relationship Some 3
Paving stone retinal degeneration of left eye (disorder) Associated morphology False Atrophy Inferred relationship Some 2
Follicular atrophoderma and basal cell epitheliomata Associated morphology True Atrophy Inferred relationship Some 2
Atrophy of iris of right eye Associated morphology True Atrophy Inferred relationship Some 1
Atrophy of iris of left eye (disorder) Associated morphology True Atrophy Inferred relationship Some 1
Partial optic atrophy of right eye (disorder) Associated morphology True Atrophy Inferred relationship Some 1
Bilateral partial optic atrophy Associated morphology True Atrophy Inferred relationship Some 1
Bilateral partial optic atrophy Associated morphology True Atrophy Inferred relationship Some 2
Partial optic atrophy of left eye Associated morphology True Atrophy Inferred relationship Some 1
A rare hereditary ataxia characterized by simultaneous onset and development of cerebellar ataxia and chorioretinal degeneration (including macular degeneration, advancing choroidal sclerosis, punctata albescens, and retinitis pigmentosa). There have been no further descriptions in the literature since 1963. Associated morphology True Atrophy Inferred relationship Some 1
Lethal congenital contracture syndrome type 2 is a rare arthrogryposis syndrome characterized by multiple congenital contractures (typically extended elbows and flexed knees), micrognathia, anterior horn cell degeneration, skeletal muscle atrophy (mainly in the lower limbs), presence of a markedly distended urinary bladder and absence of hydrops, pterygia and bone fractures. Other craniofacial (e.g. cleft palate, facial palsy) and ocular (e.g. anisocoria, retinal detachment) anomalies may be additionally observed. The disease is usually neonatally lethal however, survival into adolescence has been reported. Associated morphology True Atrophy Inferred relationship Some 1
Vitreoretinal tuft of right eye Associated morphology True Atrophy Inferred relationship Some 1
Charcot-Marie-Tooth disease type 2P is a rare, genetic, axonal hereditary motor and sensory neuropathy disorder characterized by adulthood-onset of slowly progressive, occasionally asymmetrical, distal muscle weakness and atrophy (predominantly in the lower limbs), pan-modal sensory loss, muscle cramping in extremities and/or trunk, pes cavus and absent or reduced deep tendon reflexes. Gait anomalies and variable autonomic disturbances, such as erectile dysfunction and urinary urgency, may be associated. Associated morphology True Atrophy Inferred relationship Some 1
Vitreoretinal tuft of left eye Associated morphology True Atrophy Inferred relationship Some 1
A rare, genetic, neurometabolic disorder characterised by severe, progressive microcephaly, severe to profound global development delay, intellectual disability, seizures (typically tonic and/or myoclonic and frequently intractable), hyperekplexia, and axial hypotonia with appendicular spasticity, as well as hyperreflexia, dyskinetic quadriplegia, and abnormal brain morphology (cerebral atrophy with variable additional features including ventriculomegaly, pons and/or cerebellar hypoplasia, simplified gyral pattern and delayed myelination). Cortical blindness, feeding difficulties and respiratory insufficiency may also be associated. Associated morphology True Atrophy Inferred relationship Some 1
Vitreoretinal tuft of right eye Associated morphology True Atrophy Inferred relationship Some 3
Vitreoretinal tuft of left eye Associated morphology True Atrophy Inferred relationship Some 3
Retina - peripheral cystic tufts (disorder) Associated morphology True Atrophy Inferred relationship Some 2
Peripheral retina - white without pressure Associated morphology True Atrophy Inferred relationship Some 2
Peripheral retina - white with pressure Associated morphology True Atrophy Inferred relationship Some 2
Vitreoretinal degeneration (disorder) Associated morphology True Atrophy Inferred relationship Some 2
Zonular traction peripheral retinal tuft (disorder) Associated morphology True Atrophy Inferred relationship Some 2
Vitreoretinal tuft (disorder) Associated morphology True Atrophy Inferred relationship Some 2
Noncystic peripheral retinal tuft (disorder) Associated morphology True Atrophy Inferred relationship Some 2

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