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4720007: Dystrophy (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
8873011 Dystrophy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
784632017 Dystrophy (morphologic abnormality) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

2 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Dystrophy Is a Degenerative abnormality true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Hyaline retinal dystrophy Associated morphology True Dystrophy Inferred relationship Some 1
X-linked retinitis pigmentosa heterozygote Associated morphology True Dystrophy Inferred relationship Some 1
Retinitis pigmentosa-deafness-ataxia syndrome Associated morphology True Dystrophy Inferred relationship Some 1
Vitreoretinal dystrophy Associated morphology True Dystrophy Inferred relationship Some 1
Stargardt's disease Associated morphology True Dystrophy Inferred relationship Some 2
Rod dystrophy Associated morphology True Dystrophy Inferred relationship Some 1
Macular retinoschisis Associated morphology False Dystrophy Inferred relationship Some 3
Retinal dystrophy Associated morphology True Dystrophy Inferred relationship Some 1
A rare, genetic, macular dystrophy characterized by blurred vision, metamorphopsia and mild visual impairment secondary to a slightly elevated, yellow, egg yolk-like lesion located in the foveal or parafoveal region. Associated morphology True Dystrophy Inferred relationship Some 1
Oguchi's disease Associated morphology True Dystrophy Inferred relationship Some 1
North Carolina macular dystrophy Associated morphology True Dystrophy Inferred relationship Some 1
Rod monochromatism Associated morphology False Dystrophy Inferred relationship Some 2
Progressive cone dystrophy (without rod involvement) Associated morphology True Dystrophy Inferred relationship Some 1
Sensory retinal dystrophy Associated morphology True Dystrophy Inferred relationship Some 1
Metachromatic leucodystrophy, adult type Associated morphology True Dystrophy Inferred relationship Some 2
Globoid cell leukodystrophy, late-onset Associated morphology True Dystrophy Inferred relationship Some 2
Amelogenesis imperfecta co-occurrent with cone rod dystrophy Associated morphology True Dystrophy Inferred relationship Some 2
Mixed renal osteodystrophy (disorder) Associated morphology True Dystrophy Inferred relationship Some 2
Western type of congenital muscular dystrophy Associated morphology False Dystrophy Inferred relationship Some 4
dystrophie musculaire congénitale associée à une arthrogrypose congénitale multiple Associated morphology False Dystrophy Inferred relationship Some 4
Eichsfeld type congenital muscular dystrophy Associated morphology False Dystrophy Inferred relationship Some 4
Ullrich congenital muscular dystrophy Associated morphology False Dystrophy Inferred relationship Some 4
Walker-Warburg congenital muscular dystrophy Associated morphology False Dystrophy Inferred relationship Some 2
Congenital muscular dystrophy Associated morphology False Dystrophy Inferred relationship Some 4
Congenital onychauxis Associated morphology False Dystrophy Inferred relationship Some 3
Pattern dystrophy of macula Associated morphology True Dystrophy Inferred relationship Some 2
Triphalangeal thumbs with onychodystrophy Associated morphology False Dystrophy Inferred relationship Some 3
Severe scapuloperoneal muscular dystrophy with cardiomyopathy Associated morphology True Dystrophy Inferred relationship Some 2
Bietti's crystalline retinopathy Associated morphology True Dystrophy Inferred relationship Some 3
Adult onset autosomal dominant leukodystrophy (disorder) Associated morphology True Dystrophy Inferred relationship Some 2
Tibial muscular dystrophy Associated morphology False Dystrophy Inferred relationship Some 2
Distal muscular dystrophy Associated morphology False Dystrophy Inferred relationship Some 2
Oculopharyngeal muscular dystrophy (disorder) Associated morphology True Dystrophy Inferred relationship Some 2
Alexander disease Associated morphology True Dystrophy Inferred relationship Some 3
Distal muscular dystrophy, Miyoshi type Associated morphology False Dystrophy Inferred relationship Some 2
Autosomal recessive muscular dystrophy with abnormal dystrophin-associated glycoprotein Associated morphology True Dystrophy Inferred relationship Some 2
Autosomal recessive muscular dystrophy with gene located at 15q Associated morphology False Dystrophy Inferred relationship Some 2
Benign congenital muscular dystrophy with finger flexion contractures Associated morphology False Dystrophy Inferred relationship Some 2
Autosomal dominant vitreoretinochoroidopathy (disorder) Associated morphology True Dystrophy Inferred relationship Some 1
Neuroaxonal leukodystrophy (disorder) Associated morphology False Dystrophy Inferred relationship Some 3
Retinal dystrophy due to systemic disorder (disorder) Associated morphology True Dystrophy Inferred relationship Some 2
RNA polymerase III-related leukodystrophy Associated morphology False Dystrophy Inferred relationship Some 1
Lipodystrophy caused by antiretroviral drug (disorder) Associated morphology True Dystrophy Inferred relationship Some 2
A rare, genetic lipodystrophy characterized by a loss of subcutaneous adipose tissue from the trunk, buttocks and limbs; fat accumulation in the neck, face, axillary and pelvic regions; muscular hypertrophy; and usually associated with metabolic complications such as insulin resistance, diabetes mellitus, dyslipidemia and liver steatosis. Associated morphology True Dystrophy Inferred relationship Some 4
Ravine syndrome is an extremely rare genetic neurological disorder, reported in a small number of patients in a specific community on Reunion Island (Ravine region), characterized by infantile anorexia with irrepressible and repeated vomiting, acute brainstem dysfunction, severe failure to thrive, and progressive encephalopathy with MRI showing vanishing of medulla oblongata and cerebellar white matter and severe atrophy of pons, along with supra-tentorial periventricular white-matter hyperintensities and basal ganglia anomalies. Associated morphology False Dystrophy Inferred relationship Some 1
Ophthalmomandibulomelic dysplasia is characterized by complete blindness due to corneal opacities, difficult mastication due to temporomandibular fusion and anomalies of the arms. Associated morphology False Dystrophy Inferred relationship Some 4
Retinitis punctata albescens (disorder) Associated morphology True Dystrophy Inferred relationship Some 1
Bothnia retinal dystrophy is a rare form of retinal dystrophy, seen mostly in Northern Sweden, presenting in early childhood with night blindness and progressive maculopathy with a decrease in visual acuity, eventually leading to blindness by adulthood. Retinal degeneration, without obvious bone spicule formation, accompanied by affected visual fields and the typical presence of retinitis punctata albescens in the posterior pole are also noted. Associated morphology True Dystrophy Inferred relationship Some 1
A rare, hereditary ataxia disorder characterized by the presence of spastic ataxia in association with bilateral congenital cataract, macular corneal dystrophy (stromal with deposition of mucoid material) and nonaxial myopia. Patients present normal intellectual development. There have been no further descriptions in the literature since 1986. Associated morphology True Dystrophy Inferred relationship Some 3
A rare genetic syndromic intellectual disability characterized by language delay and mild to moderate intellectual disability associated with truncal obesity, congenital nonprogressive retinal dystrophy with poor night vision and reduced visual acuity, and micropenis in males. Cataracts may occur in the second or third decade of life. Associated morphology True Dystrophy Inferred relationship Some 3
A subtype of autosomal recessive limb-girdle muscular dystrophy characterized by childhood onset of progressive proximal weakness of the shoulder and pelvic girdle muscles, resulting in difficulty walking, scapular winging, calf hypertrophy and contractures of the Achilles tendon, which lead to a tiptoe gait pattern. Cardiac and respiratory involvement is rare. Associated morphology True Dystrophy Inferred relationship Some 1
A subtype of autosomal recessive limb girdle muscular dystrophy characterized by a variable age of onset of progressive, typically symmetrical and selective weakness and atrophy of proximal shoulder- and pelvic-girdle muscles (gluteus maximus, thigh adductors, and muscles of the posterior compartment of the limbs are most commonly affected) without cardiac or facial involvement. Clinical manifestations include exercise intolerance, a waddling gait, scapular winging and calf pseudo-hypertrophy. Associated morphology True Dystrophy Inferred relationship Some 1
Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome is characterized by congenital muscular dystrophy, infantile cataract and hypogonadism. It has been described in seven individuals from an isolated Norwegian village and in one unrelated individual. Transmission appears to be autosomal recessive. Associated morphology False Dystrophy Inferred relationship Some 4
Epithelial recurrent erosion dystrophy (ERED) is a rare form of superficial corneal dystrophy characterized by recurrent episodes of epithelial erosions from childhood in the absence of associated diseases, with occasional impairment of vision. Associated morphology True Dystrophy Inferred relationship Some 1
Severe early childhood onset retinal dystrophy (SECORD) is an inherited retinal dystrophy characterized by a severe congenital night blindness, progressive retinal dystrophy and nystagmus. Best corrected visual acuity can reach 0.3 in the first decade of life and can pertain well into the second decade of life. Blindness is often complete by the age of 30 years. Associated morphology True Dystrophy Inferred relationship Some 1
Pelizaeus-Merzbacher like disease (PMLD) is an autosomal recessive leukodystrophy sharing identical clinical and radiological features as X-linked Pelizaeus-Merzbacher disease. Associated morphology False Dystrophy Inferred relationship Some 1
A subtype of autosomal recessive limb-girdle muscular dystrophy characterized by a childhood onset of progressive shoulder and pelvic girdle muscle weakness and atrophy frequently associated with calf hypertrophy, diaphragmatic weakness, and/or variable cardiac abnormalities. Mild to moderate elevated serum creatine kinase levels and positive Gowers sign are reported. Associated morphology True Dystrophy Inferred relationship Some 1
A subtype of autosomal recessive limb-girdle muscular dystrophy characterized by a variable age of onset of progressive weakness and wasting of the proximal skeletal muscles of the shoulder and pelvic girdles, frequently associated with progressive respiratory muscle impairment and cardiomyopathy. Calf hypertrophy, muscle cramps and elevated serum creatine kinase levels are also observed. Neuro-psychomotor development is usually normal. Associated morphology True Dystrophy Inferred relationship Some 1
dystrophie musculaire des ceintures autosomique dominante type 1B Associated morphology False Dystrophy Inferred relationship Some 1
A subtype of autosomal recessive limb-girdle muscular dystrophy characterized by an onset in late adolescence or early adulthood of slowly progressive, proximal weakness and atrophy of shoulder and pelvic girdle muscles. Cardiac and respiratory muscles are not involved. Hypertrophy of the calf muscles and highly elevated serum creatine kinase levels are frequently observed. Associated morphology True Dystrophy Inferred relationship Some 1
A form of autosomal recessive limb-girdle muscular dystrophy that presents a highly variable age of onset and phenotypic spectrum typically characterized by slowly progressive proximal weakness of the pelvic and shoulder girdle musculature (predominantly affecting the lower limbs), frequently associated with waddling gait, scapular winging, calf and tongue hypertrophy, exercise-induced myalgia, abdominal muscle weakness, cardiomyopathy, respiratory muscle involvement, and myoglobinuria and/or elevated creatine kinase serum levels. Associated morphology True Dystrophy Inferred relationship Some 1
A form of congenital muscular dystrophy characterized by a congenital to childhood onset of progressive proximal muscle weakness, joint contractures, and potential respiratory insufficiency in adulthood. Associated morphology False Dystrophy Inferred relationship Some 3
X-linked endothelial corneal dystrophy (XECD) is a rare subtype of posterior corneal dystrophy characterized by congenital ground glass corneal clouding or a diffuse corneal haze, and blurred vision in male patients. Associated morphology True Dystrophy Inferred relationship Some 1
Grayson-Wilbrandt corneal dystrophy (GWCD) is an extremely rare form of corneal dystrophy characterized by variable patterns of opacification in the Bowman layer of the cornea which extend anteriorly into the epithelium with decreased to normal visual acuity. Associated morphology True Dystrophy Inferred relationship Some 3
A subtype of autosomal recessive limb girdle muscular dystrophy characterized by a childhood to adolescent onset of progressive pelvic- and shoulder-girdle muscle weakness, particularly affecting the pelvic girdle (adductors and flexors of hip). Usually the knees are the earliest and most affected muscles. In advanced stages, involvement of the shoulder girdle (resulting in scapular winging) and the distal muscle groups are observed. Calf hypertrophy, cardiomyopathy, respiratory impairment, tendon contractures, scoliosis, and exercise-induced myoglobinuria may be observed. Associated morphology True Dystrophy Inferred relationship Some 1
Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome is characterized by the association of spondylometaphyseal dysplasia (marked by platyspondyly, shortening of the tubular bones and progressive metaphyseal irregularity and cupping), with postnatal growth retardation and progressive visual impairment due to cone-rod dystrophy. So far, it has been described in eight individuals. Transmission appears to be autosomal recessive. Associated morphology False Dystrophy Inferred relationship Some 3
Primary ciliary dyskinesia - retinitis pigmentosa is an X-linked ciliary dysfunction of both respiratory epithelium and photoreceptors of the retina leading to ocular disorders (mild night blindness, constriction of the visual field, and scotopic and photopic ERG responses reduced to 30-60%) associated with primary ciliary dyskinesia manifestations (chronic bronchorrhea with bronchiectasis and chronic sinusitis) and sensorineural hearing loss. Associated morphology True Dystrophy Inferred relationship Some 3
Primary ciliary dyskinesia - retinitis pigmentosa is an X-linked ciliary dysfunction of both respiratory epithelium and photoreceptors of the retina leading to ocular disorders (mild night blindness, constriction of the visual field, and scotopic and photopic ERG responses reduced to 30-60%) associated with primary ciliary dyskinesia manifestations (chronic bronchorrhea with bronchiectasis and chronic sinusitis) and sensorineural hearing loss. Associated morphology False Dystrophy Inferred relationship Some 2
Posterior amorphous corneal dystrophy (PACD) is a very rare form of stromal corneal dystrophy characterized by irregular amorphous sheet-like opacities in the posterior corneal stroma and in Descemet membrane and mildly impaired vision. Associated morphology True Dystrophy Inferred relationship Some 1
Late-onset retinal degeneration is an inherited retinal dystrophy characterized by delayed dark adaptation and nyctalopia and drusen deposits presenting in adulthood, followed by cone and rod degeneration that presents in the sixth decade of life, which leads to central vision loss. Anterior segment features such as peripupillary iris transillumination defects and abnormally long anterior zonular insertions are also observed. Choroidal neovascularization and glaucoma may occur in the late stages of the disease. Associated morphology True Dystrophy Inferred relationship Some 1
Cone dystrophy with supernormal rod response (CDSRR) is an inherited retinopathy, with an onset in the first or second decade of life, characterized by poor visual acuity (due to central scotoma), photophobia, severe dyschromatopsia, and occasionally, nystagmus. Night blindness usually develops later in the course of the disease, but it can also be apparent from childhood. A hallmark of CDSRR is the decreased and delayed dark-adapted response to dim flashes in electroretinographic recordings, which contrasts with the supernormal b-wave response at the highest levels of stimulation. Associated morphology True Dystrophy Inferred relationship Some 1
Benign concentric annular macular dystrophy (BCAMD) is a progressive autosomal dominant macular dystrophy characterized by parafoveal hypopigmentation followed by a retinitis pigmentosa-like phenotype (nyctalopia and peripheral vision loss) with a bull's eye configuration. Associated morphology False Dystrophy Inferred relationship Some 2
Progressive bifocal chorioretinal atrophy (PBCRA) is an early onset chorioretinal dystrophy characterised by large atrophic macular and nasal retinal lesions, nystagmus, myopia, poor vision, and slow disease progression. Associated morphology True Dystrophy Inferred relationship Some 2
Progressive bifocal chorioretinal atrophy (PBCRA) is an early onset chorioretinal dystrophy characterised by large atrophic macular and nasal retinal lesions, nystagmus, myopia, poor vision, and slow disease progression. Associated morphology True Dystrophy Inferred relationship Some 3
A rare subtype of autosomal dominant limb girdle muscular dystrophy characterized by an adult onset of proximal shoulder and hip girdle weakness (that later progresses to include distal weakness), nasal speech and dysarthria. Other frequent findings include tightened heel cords, reduced deep-tendon reflexes and elevated creatine kinase serum levels. Respiratory failure, as well as mild facial weakness and dysphagia, may also be observed. Associated morphology False Dystrophy Inferred relationship Some 3
dystrophie musculaire des ceintures autosomique dominante type 1C Associated morphology False Dystrophy Inferred relationship Some 3
A subtype of autosomal dominant limb-girdle muscular dystrophy characterized by an adult-onset of slowly progressive, proximal pelvic girdle weakness, with none, or only minimal, shoulder girdle involvement, and absence of cardiac and respiratory symptoms. Mild to moderate elevated creatine kinase serum levels and gait abnormalities are frequently observed. Associated morphology False Dystrophy Inferred relationship Some 3
A limb-girdle muscular dystrophy with characteristics of skeletal and cardiac myopathy with cardiac conduction defects and muscle cytoplasmic inclusions. Associated morphology False Dystrophy Inferred relationship Some 3
A rare subtype of autosomal dominant limb-girdle muscular dystrophy, with a variable age of onset, characterized by progressive, proximal weakness and wasting of the shoulder and pelvic musculature (with the pelvic girdle, and especially the ileopsoas muscle, being more affected) and frequent association of calf hypertrophy, dysphagia, arachnodactyly with or without finger contractures and/or distal and axial muscle involvement. Additional features include an abnormal gait, exercise intolerance, myalgia, fatigue and respiratory insufficiency. Cardiac conduction defects are typically not observed. Associated morphology False Dystrophy Inferred relationship Some 3
A rare, mild subtype of autosomal dominant limb-girdle muscular dystrophy characterized by a typically adult onset of mild, progressive, proximal weakness of pelvic and shoulder girdle muscles and progressive, permanent finger and toes flexion limitation without flexion contractures. Normal to highly elevated creatine kinase serum levels are observed. Associated morphology False Dystrophy Inferred relationship Some 3
Progressive iris atrophy Associated morphology True Dystrophy Inferred relationship Some 2
Iridocorneal endothelial syndrome Associated morphology True Dystrophy Inferred relationship Some 1
A mild subtype of autosomal recessive limb-girdle muscular dystrophy characterized by a variable onset (ranging from infancy to adolescence) of progressive proximal upper and lower limb muscle weakness and atrophy. Mild scapular winging, calf hypertrophy, and lack of respiratory and cardiac involvement are also observed. Associated morphology True Dystrophy Inferred relationship Some 1
A form of limb-girdle muscular dystrophy characterized by the onset of slowly progressive proximal muscle weakness during childhood (with fatigue and difficulty running and climbing stairs) and developmental delay. Mild intellectual deficit and microcephaly, without any obvious structural brain abnormality, are found in all patients. Mild pseudohypertrophy and joint contractures of the ankles have also been reported. Associated morphology True Dystrophy Inferred relationship Some 1
Leber's amaurosis Associated morphology True Dystrophy Inferred relationship Some 2
Corneal dystrophy-perceptive deafness (CDPD) or Harboyan syndrome is a degenerative corneal disorder characterized by the association of congenital hereditary endothelial dystrophy with progressive, postlingual sensorineural hearing loss. Associated morphology True Dystrophy Inferred relationship Some 4
Cerebroretinal vasculopathy Associated morphology False Dystrophy Inferred relationship Some 3
A rare ectodermal dysplasia syndrome characterized by the association of ectodermal dysplasia (with hypotrichosis affecting scalp hair, eyebrows, and eyelashes, and partial anodontia), ectrodactyly, and macular dystrophy (appearing as a central geographic atrophy of the retinal pigment epithelium and choriocapillary layer of the macular area with coarse hyperpigmentations and sparing of the larger choroidal vessels). Variable additional limb defects (including absence deformities, polydactyly, syndactyly, or camptodactyly) have also been described, the hands often being more severely affected than the feet. Associated morphology False Dystrophy Inferred relationship Some 5
A rare, syndromic, inherited retinal disorder characterized by cone-rod type congenital amaurosis, severe retinal dystrophy leading to visual impairment and profound photophobia (without night blindness), and trichomegaly (bushy eyebrows with synophrys, excessive facial and body hair including marked circumareolar hypertrichosis). There have been no further descriptions in the literature since 1989. Associated morphology False Dystrophy Inferred relationship Some 4
A rare, genetic, neurological disorder characterized by the association of slowly progressive spinocerebellar degeneration and corneal dystrophy, manifesting with bilateral corneal opacities (which lead to severe visual impairment), mild intellectual disability, ataxia, gait disturbances, and tremor. Additional manifestations include facial dysmorphism (i.e. triangular face, ptosis, low-set, posteriorly angulated ears, and micrognathia), as well as mild upper motor neuron involvement with hypertonia, lower limb hyperreflexia and extensor plantar responses. There have been no further descriptions in the literature since 1985. Associated morphology True Dystrophy Inferred relationship Some 4
An X-linked retinal dystrophy characterized by choroideremia, causing in affected males progressive nyctalopia and eventual central blindness. Obesity, moderate intellectual disability and congenital mixed (sensorineural and conductive) deafness are also observed. Female carriers show typical retinal changes indicative of the choroideremia carrier state. Associated morphology False Dystrophy Inferred relationship Some 5
Acquired Horner syndrome (disorder) Associated morphology False Dystrophy Inferred relationship Some 3
Juvenile epithelial corneal dystrophy (disorder) Associated morphology False Dystrophy Inferred relationship Some 2
Epithelial basement membrane dystrophy (disorder) Associated morphology True Dystrophy Inferred relationship Some 2
Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome (disorder) Associated morphology True Dystrophy Inferred relationship Some 6
A rare form of genetic lipodystrophy, reported in 3 patients from one family to date, characterized by generalized congenital lipodystrophy, low birth weight, progressive sensorineural deafness occurring in childhood, intellectual deficit, progressive osteopenia, delayed skeletal maturation, skeletal abnormalities described as slender, undermineralized tubular bones, and dense metaphyseal striations in the distal femur, ulna and radius of older patients. Autosomal recessive inheritance has been suggested. Associated morphology False Dystrophy Inferred relationship Some 6
A rare multiple congenital anomalies-intellectual disability syndrome characterized by sensorineural hearing loss (deafness), onychodystrophy, osteodystrophy, mild to profound intellectual disability, and seizures. Associated morphology False Dystrophy Inferred relationship Some 8
A rare multiple congenital anomalies-intellectual disability syndrome characterized by sensorineural hearing loss (deafness), onychodystrophy, osteodystrophy, mild to profound intellectual disability, and seizures. Associated morphology False Dystrophy Inferred relationship Some 9
Odontoleukodystrophy (disorder) Associated morphology True Dystrophy Inferred relationship Some 3
A rare ectodermal dysplasia syndrome characterized by bilateral retinitis pigmentosa, trichodysplasia (generalized hypotrichosis, structural changes), dental anomalies, onychodysplasia, and dry and scaly skin. There have been no further descriptions in the literature since 1988. Associated morphology False Dystrophy Inferred relationship Some 4
A rare non-progressive form of cone photoreceptor dysfunction syndrome characterized by reduced visual acuity, normal fundus appearance and absent or reduced cone responses on electroretinography. In contrast to all other forms of cone dysfunction color vision is normal. Associated morphology True Dystrophy Inferred relationship Some 1

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