78076003: Structure of lens of eye (body structure)

SNOMED CT Concept\Body structure (body structure)\Anatomical or acquired body structure (body structure)\Anatomical structure\...

\An anatomical structure that consists of the maximal set of organ parts so connected to one another that together they constitute a self-contained unit of macroscopic anatomy, distinct both morphologically and functionally from other such units. Together with other organs, an organ constitutes an organ system or a body part. An organ is divisible into organ parts but not organs (examples: femur, biceps, liver, heart, aorta, sciatic nerve, ovary).\Structure of sensory organ\Eye structure\Eye proper part (body structure)\Eyeball segment structure\Anterior eyeball segment structure\Anterior chamber and/or lens structures (body structure)\Lens clear

\Body system structure\Structure of special senses organ system\The eye, ocular adnexa, afferent visual pathways, efferent visual pathways, and pupil innervation pathways\Eye region structure (body structure)\Eye structure\Eye proper part (body structure)\Eyeball segment structure\Anterior eyeball segment structure\Anterior chamber and/or lens structures (body structure)\Lens clear

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
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
Microspherophakia (disorder)	Finding site	False	Lens clear	Inferred relationship	Some	3
Spherophakia	Finding site	False	Lens clear	Inferred relationship	Some	2
Primary lens coloboma (disorder)	Finding site	False	Lens clear	Inferred relationship	Some	3
Congenital cataract	Finding site	False	Lens clear	Inferred relationship	Some	2
Congenital zonular cataract	Finding site	False	Lens clear	Inferred relationship	Some	3
Weill-Marchesani syndrome (disorder)	Finding site	False	Lens clear	Inferred relationship	Some	6
Congenital anterior capsular pigmentation	Finding site	False	Lens clear	Inferred relationship	Some	3
Epicapsular star (disorder)	Finding site	False	Lens clear	Inferred relationship	Some	3
Congenital ectopic lens	Finding site	False	Lens clear	Inferred relationship	Some	2
Secondary lens coloboma (disorder)	Finding site	False	Lens clear	Inferred relationship	Some	3
Coloboma of lens	Finding site	False	Lens clear	Inferred relationship	Some	3
Congenital posterior polar cataract	Finding site	False	Lens clear	Inferred relationship	Some	3
Mittendorf's dot (disorder)	Finding site	False	Lens clear	Inferred relationship	Some	1
Congenital anomaly of lens shape	Finding site	False	Lens clear	Inferred relationship	Some	2
Anterior lenticonus	Finding site	False	Lens clear	Inferred relationship	Some	2
Congenital blue dot cataract	Finding site	False	Lens clear	Inferred relationship	Some	2
Microphakia	Finding site	False	Lens clear	Inferred relationship	Some	2
Congenital polar cataract	Finding site	False	Lens clear	Inferred relationship	Some	2
Congenital lamellar cataract	Finding site	False	Lens clear	Inferred relationship	Some	2
Congenital membranous cataract	Finding site	False	Lens clear	Inferred relationship	Some	2
Lentiglobus (disorder)	Finding site	False	Lens clear	Inferred relationship	Some	2
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts	Finding site	False	Lens clear	Inferred relationship	Some	3
Congenital sutural cataract	Finding site	True	Lens clear	Inferred relationship	Some	1
Congenital combined form cataract	Finding site	False	Lens clear	Inferred relationship	Some	3
Persistent tunica vasculosa lentis	Finding site	False	Lens clear	Inferred relationship	Some	5
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts	Finding site	False	Lens clear	Inferred relationship	Some	2
Nance-Horan syndrome (disorder)	Finding site	False	Lens clear	Inferred relationship	Some	3
Congenital sutural cataract	Finding site	False	Lens clear	Inferred relationship	Some	2
Congenital capsular and/or subcapsular cataract	Finding site	False	Lens clear	Inferred relationship	Some	1
Congenital total cataract	Finding site	False	Lens clear	Inferred relationship	Some	1
Cortical and zonular cataract	Finding site	True	Lens clear	Inferred relationship	Some	1
Nance-Horan syndrome (disorder)	Finding site	False	Lens clear	Inferred relationship	Some	2
Congenital zonular cataract	Finding site	True	Lens clear	Inferred relationship	Some	1
Congenital blue dot cataract	Finding site	True	Lens clear	Inferred relationship	Some	1
Congenital lamellar cataract	Finding site	True	Lens clear	Inferred relationship	Some	1
Congenital membranous cataract	Finding site	True	Lens clear	Inferred relationship	Some	1
Spherophakia	Finding site	False	Lens clear	Inferred relationship	Some	3
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts	Finding site	True	Lens clear	Inferred relationship	Some	4
Congenital anomaly of lens shape	Finding site	True	Lens clear	Inferred relationship	Some	1
Microphakia	Finding site	False	Lens clear	Inferred relationship	Some	3
Congenital pigmentation of lens	Finding site	False	Lens clear	Inferred relationship	Some	2
Persistent tunica vasculosa lentis	Finding site	True	Lens clear	Inferred relationship	Some	3
Anterior lens opacities	Finding site	True	Lens clear	Inferred relationship	Some	2
Anterior subcapsular lens opacities	Finding site	True	Lens clear	Inferred relationship	Some	2
Nuclear lens opacities	Finding site	False	Lens clear	Inferred relationship	Some	2
Lens nuclear hyper-refringence	Finding site	False	Lens clear	Inferred relationship	Some	2
Posterior subcapsular lens opacities	Finding site	False	Lens clear	Inferred relationship	Some	2
Polychromatic posterior subcapsular lens opacities	Finding site	False	Lens clear	Inferred relationship	Some	2
Cupuliform cataract	Finding site	False	Lens clear	Inferred relationship	Some	2
Shrunken cataract	Finding site	True	Lens clear	Inferred relationship	Some	2
Spontaneous reabsorption of cataract	Finding site	True	Lens clear	Inferred relationship	Some	2
Finding of cataract form	Finding site	False	Lens clear	Inferred relationship	Some	2
Cataract maturity - finding	Finding site	True	Lens clear	Inferred relationship	Some	2
Mittendorf's dot (disorder)	Finding site	False	Lens clear	Inferred relationship	Some	2
Microspherophakia (disorder)	Finding site	False	Lens clear	Inferred relationship	Some	4
Microspherophakia (disorder)	Finding site	False	Lens clear	Inferred relationship	Some	5
Immature cataract (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	False	Lens clear	Inferred relationship	Some	4
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.	Finding site	False	Lens clear	Inferred relationship	Some	6
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.	Finding site	True	Lens clear	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.	Finding site	False	Lens clear	Inferred relationship	Some	2
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	False	Lens clear	Inferred relationship	Some	4
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.	Finding site	False	Lens clear	Inferred relationship	Some	5
Encephalopathy due to sulfite oxidase deficiency is a rare neurometabolic disorder characterized by seizures, progressive encephalopathy and lens dislocation.	Finding site	True	Lens clear	Inferred relationship	Some	3
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.	Finding site	True	Lens clear	Inferred relationship	Some	3
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	False	Lens clear	Inferred relationship	Some	2
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	False	Lens clear	Inferred relationship	Some	4
Spondyloepiphyseal dysplasia Nishimura type is characterized by spondyloepiphyseal dysplasia, craniosynostosis, cataracts, cleft palate and intellectual deficit.	Finding site	False	Lens clear	Inferred relationship	Some	7
Cataract due to idiopathic hypoparathyroidism (disorder)	Finding site	False	Lens clear	Inferred relationship	Some	2
Cataract due to pseudohypoparathyroidism (disorder)	Finding site	False	Lens clear	Inferred relationship	Some	2
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	False	Lens clear	Inferred relationship	Some	5
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	False	Lens clear	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.	Finding site	False	Lens clear	Inferred relationship	Some	4
A rare, genetic, lens position anomaly disease characterized by bilateral congenital blepharoptosis, ectopia lentis and high grade myopia. Additional reported manifestations include abnormally long eye globes and signs of levator aponeurosis disinsertion. There have been no further descriptions in the literature since 1982.	Finding site	True	Lens clear	Inferred relationship	Some	2
A rare syndromic endocrine disease characterized by the association of hypergonadotropic hypogonadism and cataracts with onset during adolescence.	Finding site	False	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	False	Lens clear	Inferred relationship	Some	4
MEDNIK-Syndrom	Finding site	False	Lens clear	Inferred relationship	Some	3
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	False	Lens clear	Inferred relationship	Some	6
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	False	Lens clear	Inferred relationship	Some	4
This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism.	Finding site	False	Lens clear	Inferred relationship	Some	3
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.	Finding site	False	Lens clear	Inferred relationship	Some	4
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.	Finding site	True	Lens clear	Inferred relationship	Some	2
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.	Finding site	False	Lens clear	Inferred relationship	Some	3
A rare genetic, syndromic eye disorder characterized by progressive joint stiffness, glaucoma, short stature and lens dislocation. This syndrome shows similarities to Moore-Federman syndrome.	Finding site	False	Lens clear	Inferred relationship	Some	4
A rare genetic, syndromic eye disorder characterized by progressive joint stiffness, glaucoma, short stature and lens dislocation. This syndrome shows similarities to Moore-Federman syndrome.	Finding site	False	Lens clear	Inferred relationship	Some	5
A rare genetic, syndromic eye disorder characterized by progressive joint stiffness, glaucoma, short stature and lens dislocation. This syndrome shows similarities to Moore-Federman syndrome.	Finding site	False	Lens clear	Inferred relationship	Some	6
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.	Finding site	True	Lens clear	Inferred relationship	Some	3
A rare, genetic, ophthalmic disorder characterized by the association of lens (ectopia and cataracts) and retinal (generalized tapetoretinal dystrophy and retinal detachment) anomalies, and variable myopia. Microcephaly and intellectual disability have been reported in some patients.	Finding site	False	Lens clear	Inferred relationship	Some	3
A rare, genetic, ophthalmic disorder characterized by the association of lens (ectopia and cataracts) and retinal (generalized tapetoretinal dystrophy and retinal detachment) anomalies, and variable myopia. Microcephaly and intellectual disability have been reported in some patients.	Finding site	True	Lens clear	Inferred relationship	Some	2
Displacement of intraocular lens (disorder)	Finding site	True	Lens clear	Inferred relationship	Some	4
A rare autosomal dominant association characterized clinically by juvenile cataract associated with bilateral microcornea, and renal glucosuria without other renal tubular defects.	Finding site	False	Lens clear	Inferred relationship	Some	5
Weill-Marchesani syndrome (disorder)	Finding site	False	Lens clear	Inferred relationship	Some	2
A rare genetic, syndromic eye disorder characterized by progressive joint stiffness, glaucoma, short stature and lens dislocation. This syndrome shows similarities to Moore-Federman syndrome.	Finding site	True	Lens clear	Inferred relationship	Some	1
A rare genetic, syndromic eye disorder characterized by progressive joint stiffness, glaucoma, short stature and lens dislocation. This syndrome shows similarities to Moore-Federman syndrome.	Finding site	True	Lens clear	Inferred relationship	Some	2
Microspherophakia - metaphyseal dysplasia is a very rare syndrome associating bone dysplasia with micromelic dwarfism and eye defects.	Finding site	False	Lens clear	Inferred relationship	Some	5
Microspherophakia - metaphyseal dysplasia is a very rare syndrome associating bone dysplasia with micromelic dwarfism and eye defects.	Finding site	False	Lens clear	Inferred relationship	Some	3
Secondary lens coloboma (disorder)	Finding site	False	Lens clear	Inferred relationship	Some	2
Primary lens coloboma (disorder)	Finding site	False	Lens clear	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.	Finding site	False	Lens clear	Inferred relationship	Some	7
Congenital cataract ichthyosis syndrome	Finding site	False	Lens clear	Inferred relationship	Some	2
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

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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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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