128305008: Abnormally opaque structure (morphologic abnormality)

SNOMED CT Concept\Body structure\Body structure, altered from its original anatomical structure (morphologic abnormality)\Morphologically abnormal structure\...

\Degenerative abnormality\Lesion of degenerative abnormality\Opacity

\Lesion (morphologic abnormality)\Lesion of degenerative abnormality\Opacity

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Opacity	Is a	Degenerative abnormality	false	Inferred relationship	Some
Opacity	Is a	Lesion of degenerative abnormality	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Congenital sclerocornea	Associated morphology	True	Opacity	Inferred relationship	Some	1
Røntgenskygge	Associated morphology	False	Opacity	Inferred relationship	Some	2
Radiographic radiopacity of tooth	Associated morphology	False	Opacity	Inferred relationship	Some	3
Opacity of bilateral lungs on plain chest X-ray (finding)	Associated morphology	True	Opacity	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	Opacity	Inferred relationship	Some	2
Adherent leukoma of left eye (disorder)	Associated morphology	True	Opacity	Inferred relationship	Some	5
Adherent leukoma of bilateral eyes (disorder)	Associated morphology	True	Opacity	Inferred relationship	Some	9
Adherent leukoma of bilateral eyes (disorder)	Associated morphology	True	Opacity	Inferred relationship	Some	7
Adherent leukoma of right eye (disorder)	Associated morphology	True	Opacity	Inferred relationship	Some	5
Vitreous opacity of bilateral eyes (disorder)	Associated morphology	True	Opacity	Inferred relationship	Some	2
Vitreous opacity of bilateral eyes (disorder)	Associated morphology	True	Opacity	Inferred relationship	Some	3
Vitreous opacity of right eye (disorder)	Associated morphology	True	Opacity	Inferred relationship	Some	1
Opacity of cornea of bilateral eyes (disorder)	Associated morphology	True	Opacity	Inferred relationship	Some	2
Opacity of cornea of bilateral eyes (disorder)	Associated morphology	True	Opacity	Inferred relationship	Some	3
Opacity of cornea of left eye (disorder)	Associated morphology	True	Opacity	Inferred relationship	Some	1
Opacity of cornea of right eye (disorder)	Associated morphology	True	Opacity	Inferred relationship	Some	1
Vitreous opacity of left eye (disorder)	Associated morphology	True	Opacity	Inferred relationship	Some	1
Insidious, chronic and recurrent disorder, characterized by small and elevated oval corneal intraepithelial, whitish-gray opacities, extending to the entire anterior surface of the cornea of both eyes. Corneal lesions show a tendency for the central pupillary area distribution with mild or absent conjunctival inflammation and no association to systemic disease.	Associated morphology	True	Opacity	Inferred relationship	Some	2
Acromegaloid phenotype with cutis verticis gyrata and corneal leukoma (disorder)	Associated morphology	False	Opacity	Inferred relationship	Some	3
Acromegaloid phenotype with cutis verticis gyrata and corneal leukoma (disorder)	Associated morphology	True	Opacity	Inferred relationship	Some	1
Intellectual disability-cataracts-calcified pinnae-myopathy syndrome is a rare, genetic intellectual disability syndrome characterized by macrocephaly, hypotonia, dysmorphic facial features (wide forehead, ptosis, downslanting palpebral fissures, enlarged and calcified external ears, large jaw), sparse body hair, tall stature, and intellectual disability. Hearing loss, insulin-resistant diabetes, and progressive distal muscle wasting (leading to joint contractures) have also been reported in adulthood. Rare manifestations include behavioral abnormalities (aggression and restlessness), hypothyroidism, cerebral calcification, ataxia, and peripheral neuropathy.	Associated morphology	True	Opacity	Inferred relationship	Some	2
Bilateral eye brunescent cataract	Associated morphology	True	Opacity	Inferred relationship	Some	2
Bilateral eye brunescent cataract	Associated morphology	True	Opacity	Inferred relationship	Some	1
A rare genetic disease characterized by mild intellectual deficit, congenital cataract, progressive sensorineural hearing impairment, ataxia, peripheral neuropathy, and short stature. There have been no further descriptions in the literature since 1991.	Associated morphology	True	Opacity	Inferred relationship	Some	1
Cortical age-related cataract of right eye (disorder)	Associated morphology	True	Opacity	Inferred relationship	Some	1
Cataract-deafness-hypogonadism syndrome is an extremely rare multiple congenital abnormality syndrome, described in only three brothers to date, that is characterized by the association of congenital cataract, sensorineural deafness, hypogonadism, mild intellectual deficit, hypertrichosis, and short stature. There have been no further descriptions in the literature since 1995.	Associated morphology	True	Opacity	Inferred relationship	Some	1
Cataract of posterior subcapsule of bilateral eyes (disorder)	Associated morphology	True	Opacity	Inferred relationship	Some	1
Cataract of posterior subcapsule of bilateral eyes (disorder)	Associated morphology	True	Opacity	Inferred relationship	Some	2
A rare syndromic endocrine disease characterized by the association of hypergonadotropic hypogonadism and cataracts with onset during adolescence.	Associated morphology	True	Opacity	Inferred relationship	Some	1
Posterior subcapsular polar senile cataract of right eye	Associated morphology	True	Opacity	Inferred relationship	Some	1
Cataract-glaucoma syndrome is characterized by the association of total bilateral congenital cataract with the secondary occurrence of glaucoma appearing at ages varying between 10 and 40 years.	Associated morphology	True	Opacity	Inferred relationship	Some	1
Cataract-glaucoma syndrome is characterized by the association of total bilateral congenital cataract with the secondary occurrence of glaucoma appearing at ages varying between 10 and 40 years.	Associated morphology	True	Opacity	Inferred relationship	Some	2
Cataract-hypertrichosis-intellectual disability syndrome is characterized by congenital cataract, generalized hypertrichosis and intellectual deficit. It has been described in two Egyptian siblings born to consanguineous parents. It is transmitted as an autosomal recessive trait.	Associated morphology	True	Opacity	Inferred relationship	Some	2
Cataract-congenital heart disease-neural tube defect syndrome is a multiple congenital anomaly syndrome characterized by sacral neural tube defects resulting in tethered cord, atrial and/or ventricular septal heart defects (that are detected in infancy), bilateral, symmetrical hyperopia, rapidly progressive early childhood cataracts, bilateral aphakic glaucoma, and abnormal facial features (low frontal hairline, small ears, short philtrum, prominent, widely spaced central incisors, and micrognathia). Hypotonia, growth and developmental delay, seizures, and joint limitation are also reported.	Associated morphology	True	Opacity	Inferred relationship	Some	4
Zonular nonsenile cataract (disorder)	Associated morphology	True	Opacity	Inferred relationship	Some	1
Intellectual disability with cataract and kyphosis syndrome	Associated morphology	False	Opacity	Inferred relationship	Some	1
Congenital subcapsular cataract	Associated morphology	True	Opacity	Inferred relationship	Some	1
Cataract of left eye due to and following trauma	Associated morphology	True	Opacity	Inferred relationship	Some	1
This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism.	Associated morphology	True	Opacity	Inferred relationship	Some	1
A form of autosomal dominant optic atrophy characterized by an early and bilateral optic atrophy leading to insidious visual loss of variable severity, followed by a late anterior and/or posterior cortical cataract. Additional features include sensorineural hearing loss and neurological signs such as tremor, extrapyramidal rigidity and absence of deep tendon reflexes. It is caused by mutations in the OPA3 gene (19q13.32).	Associated morphology	True	Opacity	Inferred relationship	Some	1
Cataract of right eye due to and following trauma	Associated morphology	True	Opacity	Inferred relationship	Some	1
Infantile and/or juvenile cataract	Associated morphology	True	Opacity	Inferred relationship	Some	1
A rare lethal combination of manifestations including short stature, congenital cataracts, encephalopathy with epileptic fits, and postmortem confirmation of nephropathy (renal tubular necrosis). There have been no further descriptions in the literature since 1963.	Associated morphology	True	Opacity	Inferred relationship	Some	3
Congenital cataract of bilateral eyes (disorder)	Associated morphology	True	Opacity	Inferred relationship	Some	1
Congenital cataract of bilateral eyes (disorder)	Associated morphology	True	Opacity	Inferred relationship	Some	2
Congenital cataract ichthyosis syndrome	Associated morphology	True	Opacity	Inferred relationship	Some	1
A rare syndromic, genetic cataract characterized by the association of congenital cataract and microcornea without any other systemic anomaly or dysmorphism. Clinical findings include a decreased corneal diameter (inferior to 10 mm) in both meridians in an otherwise normal eye, and an inherited cataract, which is mostly bilateral posterior polar with opacification in the lens periphery that progresses to form a total cataract after visual maturity has been achieved. Association with other ocular manifestations, including myopia, iris coloboma, sclerocornea and Peters anomaly may be observed.	Associated morphology	True	Opacity	Inferred relationship	Some	2
Punctate age-related cataract (disorder)	Associated morphology	True	Opacity	Inferred relationship	Some	1
An autosomal recessive disorder with characteristics of ocular and neurodevelopmental defects and micro genitalia. It presents with severe intellectual disability, microcephaly, congenital cataract, microcornea, microphthalmia, agenesis/hypoplasia of the corpus callosum, and hypogenitalism. With exception of the ophthalmologic features, the clinical and dysmorphic findings are either unapparent or subtle in the early postnatal period. Mutations in RAB3GAP, a gene showing linkage to a region of homozygosity at 2q21.3, have been identified in some families.	Associated morphology	True	Opacity	Inferred relationship	Some	2
Cataract of posterior subcapsule of right eye (disorder)	Associated morphology	True	Opacity	Inferred relationship	Some	1
A very rare congenital limb malformation syndrome characterized by absence deformity of one leg, progressive scoliosis, short stature, and congenital cataract associated with dysplasia of the optic nerve. No intellectual deficit has been reported. There have been no further descriptions in the literature since 1968.	Associated morphology	True	Opacity	Inferred relationship	Some	1
Congenital anterior subcapsular polar cataract	Associated morphology	True	Opacity	Inferred relationship	Some	1
A rare neurologic disease characterized by bilateral cataract, Dandy-Walker malformation, and childhood onset of distal spinal muscular atrophy. Patients present with progressively deteriorating symmetrical distal muscle weakness and atrophy of the lower limbs (and, to a much lesser degree, also the upper limbs) and decreased tendon reflexes in the lower and upper limbs.	Associated morphology	True	Opacity	Inferred relationship	Some	1
A rare genetic lethal neurometabolic disease characterized by congenital cataracts, sensorineural hearing loss, severe psychomotor developmental delay, severe generalized muscular hypotonia and central nervous system abnormalities (including cerebellar and cerebral hypoplasia, hypomyelination, wide subarachnoid spaces) in the presence of low serum copper and ceruloplasmin. Nystagmus and seizures have also been reported. The disease is caused by homozygous or compound heterozygous mutation in the SLC33A1 gene on chromosome 3q25.	Associated morphology	True	Opacity	Inferred relationship	Some	3
Cortical age-related cataract of left eye (disorder)	Associated morphology	True	Opacity	Inferred relationship	Some	1
Cataract due to pseudohypoparathyroidism (disorder)	Associated morphology	True	Opacity	Inferred relationship	Some	1
Cataract-intellectual disability-anal atresia-urinary defects syndrome is characterized by congenital cataracts with squint, intellectual deficit, anomalies of the genitourinary tract (rectovesical fistula, micropenis, undescended testis, and hypospadias), imperforate anus and other anomalies.	Associated morphology	True	Opacity	Inferred relationship	Some	3
Brunescent cataract of right eye	Associated morphology	True	Opacity	Inferred relationship	Some	1
A rare genetic retinal dystrophy disorder with characteristics of bilateral microcornea, rod-cone dystrophy, cataracts and posterior staphyloma, in the absence of other systemic features. Night blindness is typically the presenting manifestation and nystagmus, strabismus, astigmatism and angle closure glaucoma may be associated findings. Progressive visual acuity deterioration, due to pulverulent-like cataracts, results in poor vision ranging from no light perception to 20/400. There is evidence the disease is caused by heterozygous mutation in the bestrophin-1 gene (BEST1) on chromosome 11q12.	Associated morphology	True	Opacity	Inferred relationship	Some	2
Cochleosaccular degeneration-cataract syndrome is characterized by progressive sensorineural hearing loss due to severe cochleosaccular degeneration and cataract. So far, it has been reported in two families. Transmission is autosomal dominant.	Associated morphology	True	Opacity	Inferred relationship	Some	1
Brunescent cataract of left eye	Associated morphology	True	Opacity	Inferred relationship	Some	1
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts	Associated morphology	True	Opacity	Inferred relationship	Some	4
Cataract-aberrant oral frenula-growth delay syndrome is characterized by cataracts and short stature associated with variable anomalies, including aberrant oral frenula, a characteristic facial appearance (posteriorly angulated ears, upslanting palpebral fissures, small nose, ptosis and epicanthal folds) cavernous hemangiomas and hernias. It has been described in a mother and her two children. It is transmitted as an autosomal dominant trait.	Associated morphology	True	Opacity	Inferred relationship	Some	1
A rare genetic mitochondrial myopathy disorder with characteristics of congenital cataract, progressive muscular hypotonia that particularly affects the lower limbs, reduced deep tendon reflexes, sensorineural hearing loss, global development delay and lactic acidosis. Muscle biopsy reveals reduced complex I, II and IV respiratory chain activity. Can be caused by mutations in the GFER gene.	Associated morphology	True	Opacity	Inferred relationship	Some	1
Congenital combined form cataract	Associated morphology	True	Opacity	Inferred relationship	Some	1
Bilateral posterior subcapsular polar senile cataract of eyes	Associated morphology	True	Opacity	Inferred relationship	Some	1
Bilateral posterior subcapsular polar senile cataract of eyes	Associated morphology	True	Opacity	Inferred relationship	Some	2
Coronary age-related cataract (disorder)	Associated morphology	True	Opacity	Inferred relationship	Some	1
Congenital cataract of right eye	Associated morphology	True	Opacity	Inferred relationship	Some	1
Posterior subcapsular polar senile cataract of left eye	Associated morphology	True	Opacity	Inferred relationship	Some	1
Cataract of left eye due to diabetes mellitus	Associated morphology	True	Opacity	Inferred relationship	Some	1
Congenital cataract of left eye (disorder)	Associated morphology	True	Opacity	Inferred relationship	Some	1
Congenital cataract	Associated morphology	True	Opacity	Inferred relationship	Some	1
A rare, genetic developmental defect during embryogenesis disorder characterized by sensorineural hearing impairment, childhood-onset cataract, underdeveloped secondary sexual characteristics, spinal muscular atrophy, growth retardation, and cardiac and skeletal anomalies. Sudden death, as well as fatal cardiomyopathy and heart failure, have been described in some cases.	Associated morphology	True	Opacity	Inferred relationship	Some	1
Bilateral posterior capsule opacification (disorder)	Associated morphology	True	Opacity	Inferred relationship	Some	2
Bilateral posterior capsule opacification (disorder)	Associated morphology	True	Opacity	Inferred relationship	Some	1
Diabetic cataract of bilateral eyes	Associated morphology	True	Opacity	Inferred relationship	Some	1
Diabetic cataract of bilateral eyes	Associated morphology	True	Opacity	Inferred relationship	Some	2
Right after-cataract not obscuring vision	Associated morphology	True	Opacity	Inferred relationship	Some	1
A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.	Associated morphology	True	Opacity	Inferred relationship	Some	3
Bilateral posterior capsule opacification not obscuring vision (disorder)	Associated morphology	True	Opacity	Inferred relationship	Some	1
Bilateral posterior capsule opacification not obscuring vision (disorder)	Associated morphology	True	Opacity	Inferred relationship	Some	2
Cortical nonsenile cataract	Associated morphology	True	Opacity	Inferred relationship	Some	1
Presenile cataract of bilateral eyes (disorder)	Associated morphology	True	Opacity	Inferred relationship	Some	2
Presenile cataract of bilateral eyes (disorder)	Associated morphology	True	Opacity	Inferred relationship	Some	1
Cortical age-related cataract of bilateral eyes (disorder)	Associated morphology	True	Opacity	Inferred relationship	Some	2
Cortical age-related cataract of bilateral eyes (disorder)	Associated morphology	True	Opacity	Inferred relationship	Some	1
Cataract of posterior subcapsule of left eye (disorder)	Associated morphology	True	Opacity	Inferred relationship	Some	1
A rare genetic ocular disease with characteristics of congenital nystagmus (horizontal, vertical and/or torsional), foveal hypoplasia, presenile cataracts (with typical onset in the second to third decade of life) and normal irides. Corneal pannus and/or optic nerve hypoplasia may also be present. Caused by heterozygous mutation in the PAX6 gene on chromosome 11p13.	Associated morphology	True	Opacity	Inferred relationship	Some	2
Cataract of right eye due to diabetes mellitus	Associated morphology	True	Opacity	Inferred relationship	Some	1
A rare autosomal dominant association characterized clinically by juvenile cataract associated with bilateral microcornea, and renal glucosuria without other renal tubular defects.	Associated morphology	True	Opacity	Inferred relationship	Some	2
A rare syndromic cardiac disease characterized by communicating hydrocephalus, endocardial fibroelastosis, and congenital cataracts. A history of upper respiratory infection in the mother during the first trimester of pregnancy and polyhydramnios in the third trimester has been associated. No evidence of toxoplasmosis, rubella, cytomegalovirus, herpes simplex virus, syphilis, and galactosemia is reported. There have been no further descriptions in the literature since 1995.	Associated morphology	True	Opacity	Inferred relationship	Some	3
Congenital posterior subcapsular polar cataract	Associated morphology	True	Opacity	Inferred relationship	Some	1
Hypermature senile cataract	Associated morphology	True	Opacity	Inferred relationship	Some	1
Secondary cataract	Associated morphology	True	Opacity	Inferred relationship	Some	1
Left posterior capsule opacification not obscuring vision (disorder)	Associated morphology	True	Opacity	Inferred relationship	Some	1
Cataract due to idiopathic hypoparathyroidism (disorder)	Associated morphology	True	Opacity	Inferred relationship	Some	1
Spondyloepiphyseal dysplasia Nishimura type is characterized by spondyloepiphyseal dysplasia, craniosynostosis, cataracts, cleft palate and intellectual deficit.	Associated morphology	True	Opacity	Inferred relationship	Some	2
Hyperferritinemia cataract syndrome	Associated morphology	True	Opacity	Inferred relationship	Some	1
Congenital cataract - hypertrophic cardiomyopathy - mitochondrial myopathy (CCM) is a mitochondrial disease characterized by cataracts, hypertrophic cardiomyopathy, muscle weakness and lactic acidosis after exercise.	Associated morphology	True	Opacity	Inferred relationship	Some	1
Congenital polar cataract	Associated morphology	True	Opacity	Inferred relationship	Some	1

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Id	Description	Lang	Type	Status	Case?	Module
206589016	Opacity	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
732282015	Abnormally opaque structure (morphologic abnormality)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2764346010	Abnormally opaque structure	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3940361000005119	opacitet	da	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Danish module (core metadata concept)