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78076003: Structure of lens of eye (body structure)


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
129574016 Crystalline lens en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
129577011 Lens en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
200707012 Ocular lens en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
503758018 Lens clear en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
1234210015 Lens structure en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
2638885012 Structure of lens of eye (body structure) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
2647225015 Lens of eye en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
2764983015 Structure of lens of eye en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
196731000077117 cristallin fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
874441000172117 cristallin de l'œil fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
931141000172117 structure du cristallin fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
1003271000172119 lens fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
7023201000241112 structure du cristallin de l'œil fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module


82 descendants. Search Descendants:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Lens clear Is a Anterior chamber and/or lens structures (body structure) true Inferred relationship Some
Lens clear partie de Entire anterior segment of eyeball false Additional relationship Some
Lens clear Laterality Side (qualifier value) true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group
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. Finding site False Lens clear Inferred relationship Some 6
Coronary age-related cataract (disorder) Finding site True Lens clear Inferred relationship Some 1
Punctate age-related cataract (disorder) Finding site True Lens clear Inferred relationship Some 1
Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome is a syndromic developmental defect of the eye characterized by dislocated or subluxated crystalline lenses, anterior segment abnormalities, and distinctive facial features such as flat cheeks and a prominent, beaked nose. Affected individuals may develop nontraumatic conjunctival cysts, also referred to as filtering blebs. Finding site True Lens clear Inferred relationship Some 2
MRCS syndrome is a rare, genetic retinal dystrophy disorder characterized by 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. Finding site True Lens clear Inferred relationship Some 2
Phacodonesis (disorder) Finding site True Lens clear 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. Finding site True Lens clear 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. Finding site True Lens clear Inferred relationship Some 1
A rare syndromic endocrine disease characterized by the association of hypergonadotropic hypogonadism and cataracts with onset during adolescence. Finding site True Lens clear Inferred relationship Some 1
Microspherophakia - metaphyseal dysplasia is a very rare syndrome associating bone dysplasia with micromelic dwarfism and eye defects. Finding site True Lens clear Inferred relationship Some 1
Microspherophakia - metaphyseal dysplasia is a very rare syndrome associating bone dysplasia with micromelic dwarfism and eye defects. Finding site True Lens clear Inferred relationship Some 2
A rare, syndromic, genetic respiratory disease characterized by cataracts, otitis media, intestinal malabsorption, chronic respiratory infections, and failure to thrive. Recurrent pneumonia and progressive azotemia, leading to end-stage renal disease and early death, are additionally observed. There have been no further descriptions in the literature since 1992. Finding site True Lens clear 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. Finding site True Lens clear Inferred relationship Some 1
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. Finding site True Lens clear Inferred relationship Some 3
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. Finding site True Lens clear Inferred relationship Some 2
A rare autosomal dominant association characterized clinically by juvenile cataract associated with bilateral microcornea, and renal glucosuria without other renal tubular defects. Finding site True Lens clear Inferred relationship Some 2
Congenital cataract - hypertrophic cardiomyopathy - mitochondrial myopathy (CCM) is a mitochondrial disease characterized by cataracts, hypertrophic cardiomyopathy, muscle weakness and lactic acidosis after exercise. Finding site True Lens clear Inferred relationship Some 1
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. Finding site True Lens clear Inferred relationship Some 1
Spondyloepiphyseal dysplasia Nishimura type is characterized by spondyloepiphyseal dysplasia, craniosynostosis, cataracts, cleft palate and intellectual deficit. Finding site True Lens clear Inferred relationship Some 2
MEDNIK-Syndrom Finding site False Lens clear 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. Finding site True Lens clear Inferred relationship Some 1
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. Finding site True Lens clear Inferred relationship Some 2
This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism. Finding site True Lens clear Inferred relationship Some 1
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. Finding site True Lens clear Inferred relationship Some 4
Congenital cataract ichthyosis syndrome Finding site True Lens clear Inferred relationship Some 1
Micro syndrome is an autosomal recessive disorder characterized by ocular and neurodevelopmental defects and by micro genitalia. It presents with severe intellectual disability, microcephaly, congenital cataract, microcornea, microphthalmia, agenesis/hypoplasia of the corpus callosum, and hypogenitalism. Finding site True Lens clear Inferred relationship Some 2
A rare, genetic, mitochondrial myopathy characterized by 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. Finding site True Lens clear Inferred relationship Some 1
A rare genetic ocular disease characterized by 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. Finding site True Lens clear Inferred relationship Some 2
Congenital cataract-hearing loss-severe developmental delay syndrome is 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. Finding site True Lens clear Inferred relationship Some 3
Congenital cataract Finding site True Lens clear Inferred relationship Some 1
A rare, syndromic ichthyosis characterized by a collodion membrane at birth, generalized congenital ichthyosis, microspherophakia, myopia, ectopia lentis, short stature with brachydactyly and joint stiffness, and occasionally mitral valve dysplasia. Finding site True Lens clear Inferred relationship Some 3
Zonular nonsenile cataract (disorder) Finding site True Lens clear Inferred relationship Some 1
Cataract due to pseudohypoparathyroidism (disorder) Finding site True Lens clear Inferred relationship Some 1
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. Finding site True Lens clear Inferred relationship Some 1
Cataract due to idiopathic hypoparathyroidism (disorder) Finding site True Lens clear Inferred relationship Some 1
Hyperferritinemia cataract syndrome Finding site True Lens clear Inferred relationship Some 1
Phacoantigenic uveitis Finding site False Lens clear Inferred relationship Some 2
Lens-induced uveitis (disorder) Finding site False Lens clear Inferred relationship Some 2
A rare, syndromic ichthyosis characterized by a collodion membrane at birth, generalized congenital ichthyosis, microspherophakia, myopia, ectopia lentis, short stature with brachydactyly and joint stiffness, and occasionally mitral valve dysplasia. Finding site True Lens clear Inferred relationship Some 4
A rare triad of dilated cardiomyopathy, premature cataract, and articular disease of the hips and spine characterized by hip joint degeneration, irregular intervertebral discs, and platyspondyly. The ocular abnormalities are often the first symptoms to arise. There have been no further descriptions in the literature since 1985. Finding site True Lens clear Inferred relationship Some 1
Marinesco-Sjögren syndrome (disorder) Finding site True Lens clear Inferred relationship Some 1
Phacotoxic uveitis Finding site False Lens clear Inferred relationship Some 2
Early opacity of lens Finding site True Lens clear Inferred relationship Some 1
Normal lens of eye Finding site True Lens clear Inferred relationship Some 2
Clear lens of eye (finding) Finding site True Lens clear Inferred relationship Some 1
Thickening of lens capsule in aphakia Finding site True Lens clear Inferred relationship Some 2
Aphakic corneal oedema Finding site True Lens clear Inferred relationship Some 1
Bullous aphakic keratopathy following cataract surgery (disorder) Finding site True Lens clear Inferred relationship Some 1
Bilateral uveitis-glaucoma-hyphaema syndrome of eyes Finding site False Lens clear Inferred relationship Some 8
Localised cataract opacities due to and following traumatic injury Finding site True Lens clear Inferred relationship Some 1
Coralliform cataract (disorder) Finding site True Lens clear Inferred relationship Some 1
Cataract due to drug induced diabetes mellitus (disorder) Finding site True Lens clear Inferred relationship Some 1
Hutterite type cataract (disorder) Finding site True Lens clear Inferred relationship Some 1
Pulverulent cataract (disorder) Finding site True Lens clear Inferred relationship Some 1
A rare sterol biosynthesis disorder characterized by microcephaly, bilateral congenital cataract, mild developmental delay, growth delay with short stature, psoriasiform dermatitis of variable severity, and immune dysregulation. Behavioral disorder, joint contractures, and arthralgia have also been described. Finding site True Lens clear Inferred relationship Some 1
Acquired aphakia Finding site True Lens clear Inferred relationship Some 1
Aphakia due to trauma (disorder) Finding site True Lens clear Inferred relationship Some 1
Cataract extraction, insertion of intraocular lens and trabeculectomy Procedure site - Indirect (attribute) False Lens clear Inferred relationship Some 1
Intracapsular cataract extraction and insertion of intraocular lens Procedure site - Indirect (attribute) False Lens clear Inferred relationship Some 2
Deposits on intraocular lens obscuring vision Finding site True Lens clear Inferred relationship Some 4
Exchange of intraocular lens Procedure site - Indirect (attribute) True Lens clear Inferred relationship Some 3
Exchange of intraocular lens Procedure site - Direct (attribute) True Lens clear Inferred relationship Some 1
Cataract due to degenerative disorder of eye (disorder) Finding site True Lens clear Inferred relationship Some 1
Calcified age-related cataract (disorder) Finding site True Lens clear Inferred relationship Some 1
Calcified age-related cataract (disorder) Finding site True Lens clear Inferred relationship Some 2
Cataract due to degenerative disorder Finding site True Lens clear Inferred relationship Some 1
A rare mitochondrial disease characterized by a highly variable phenotypic spectrum comprising delayed motor development, peripheral neuropathy, cataract, short stature due to growth hormone deficiency, nystagmus, sensorineural hearing loss, dysmorphic facial features, and skeletal abnormalities consistent with spondyloepimetaphyseal dysplasia. Hyperextensible joints, achalasia, and telangiectasia have also been described. Cognition is normal. Atrophy of the pituitary gland has been observed in brain imaging. Finding site True Lens clear Inferred relationship Some 1
A rare, genetic, syndromic rod-cone dystrophy disorder characterized by psychomotor developmental delay from early childhood, intellectual disability, short stature, mild facial dysmorphism (e.g. upslanted palpebral fissures, hypoplastic alae nasi, malar hypoplasia, attached earlobes), excessive dental spacing and malocclusion, juvenile cataract and ophthalmologic findings of atypical retinitis pigmentosa (i.e. salt-and-pepper retinopathy, attenuated retinal arterioles, generalized rod-cone dysfunction, mottled macula, peripapillary sparing of retinal pigment epithelium). Finding site True Lens clear Inferred relationship Some 1
Intraocular lens specimen Specimen source topography True Lens clear Inferred relationship Some 1
Lens specimen (specimen) Specimen source topography True Lens clear Inferred relationship Some 1
A rare disorder of the anterior segment of the eye characterized by the presence of an unusually small and spherical lens with increased anteroposterior thickness, and visibility of the lens equator on full mydriasis. The condition is typically bilateral and may be associated with lens dislocation or subluxation, lenticular myopia, and secondary angle-closure glaucoma. Finding site True Lens clear Inferred relationship Some 1
A rare disorder of the anterior segment of the eye characterized by the presence of an unusually small and spherical lens with increased anteroposterior thickness, and visibility of the lens equator on full mydriasis. The condition is typically bilateral and may be associated with lens dislocation or subluxation, lenticular myopia, and secondary angle-closure glaucoma. Finding site True Lens clear Inferred relationship Some 2
Lowe syndrome Finding site True Lens clear Inferred relationship Some 3
Cataract due to undernutrition Finding site True Lens clear Inferred relationship Some 1
Cataract due to dehydration (disorder) Finding site True Lens clear Inferred relationship Some 1
A rare ciliopathy characterized by congenital cataract with secondary glaucoma, developmental delay, short stature, multiple skeletal abnormalities (spinal deformities, limb anomalies, delayed bone age), dental anomalies (oligodontia, enamel defects), dysmorphic facial features (including coarse facies, low hairline, epicanthal folds, flat and broad nasal bridges, and retrognathia), and stroke. Other recurrent manifestations are hearing loss and nephrocalcinosis. Finding site True Lens clear Inferred relationship Some 1
Post cranial irradiation cataract Finding site True Lens clear Inferred relationship Some 1
Extracapsular extraction of lens by aspiration and irrigation technique Procedure site - Direct (attribute) True Lens clear Inferred relationship Some 1
A rare genetic disease characterized by congenital cataract, neonatal hepatic failure and cholestatic jaundice, and global developmental delay. Neonatal death due to progressive liver failure has been reported. Finding site True Lens clear Inferred relationship Some 1
An artificial lens replaces a person's natural lens. Finding site True Lens clear Inferred relationship Some 3
An artificial lens is implanted without removing a person's natural lens. Finding site True Lens clear Inferred relationship Some 2
Anterior chamber intraocular lens present (finding) Finding site True Lens clear Inferred relationship Some 3
A rare genetic eye disease characterized by congenital cataract, microcornea, and corneal opacity, resulting in severe visual impairment or blindness. Depending on the genetic background, other developmental ocular defects may also be present. Finding site True Lens clear Inferred relationship Some 1
Intumescent cataract Finding site True Lens clear Inferred relationship Some 3
Shrunken cataract Finding site True Lens clear Inferred relationship Some 3
Hypermature cataract Finding site True Lens clear Inferred relationship Some 3
Hypermature senile cataract Finding site True Lens clear Inferred relationship Some 2
Refractive lensectomy (procedure) Procedure site - Direct (attribute) True Lens clear Inferred relationship Some 1
Refractive lensectomy with intraocular lens implantation (procedure) Procedure site - Direct (attribute) True Lens clear Inferred relationship Some 2
Presbyopic refractive lensectomy with intraocular lens implantation Procedure site - Direct (attribute) True Lens clear Inferred relationship Some 3
A rare multiple congenital anomalies/dysmorphic syndrome characterized by severe intellectual disability, global developmental delay with no speech (some patients may have limited speech), inability or difficulty to walk, microcephaly, and early-onset cataract. Additional clinical features may include hypotonia, spasticity, endocrine/metabolic diseases and immunodeficiency with lymphopenia. Finding site True Lens clear Inferred relationship Some 1
Aspiration of cataract by phacoemulsification Procedure site - Direct (attribute) False Lens clear Inferred relationship Some 1
Extracapsular extraction of cataract by mechanical fragmentation with aspiration Procedure site - Direct (attribute) True Lens clear Inferred relationship Some 2
Extraction of cataract by rotoextraction with aspiration by posterior route Procedure site - Direct (attribute) True Lens clear Inferred relationship Some 3
Extraction of cataract Procedure site - Direct (attribute) True Lens clear Inferred relationship Some 1
Extracapsular cataract extraction and insertion of intraocular lens Procedure site - Direct (attribute) True Lens clear Inferred relationship Some 2
Intracapsular cataract extraction (procedure) Procedure site - Direct (attribute) True Lens clear Inferred relationship Some 1
Extraction of cataract and trabeculectomy (procedure) Procedure site - Direct (attribute) True Lens clear Inferred relationship Some 1
Removal of secondary membranous cataract with iridectomy Procedure site - Direct (attribute) True Lens clear Inferred relationship Some 2
Extracapsular extraction of cataract by mechanical fragmentation with aspiration by posterior route Procedure site - Direct (attribute) True Lens clear Inferred relationship Some 2
Extracapsular extraction of cataract by curette evacuation Procedure site - Direct (attribute) True Lens clear Inferred relationship Some 2

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Reference Sets

Lateralizable body structure reference set (foundation metadata concept)

Anatomy structure and entire association reference set (foundation metadata concept)

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