5665001: Retinal structure (body structure)

SNOMED CT Concept\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 (body structure)\Posterior eyeball segment structure\Vitreous and/or retinal structures (body structure)\Retinal structure

\Structure of tunica interna of eyeball\Retinal structure

\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 (body structure)\Posterior eyeball segment structure\Vitreous and/or retinal structures (body structure)\Retinal structure

\Structure of tunica interna of eyeball\Retinal structure

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
Retinal structure	Is a	Structure of tunica interna of eyeball	true	Inferred relationship	Some
Retinal structure	Is a	Vitreous and/or retinal structures (body structure)	true	Inferred relationship	Some
Retinal structure	Is a	Koroidale og/eller retinale strukturer	false	Inferred relationship	Some
Retinal structure	del af	Entire tunica interna of eyeball	false	Additional relationship	Some
Retinal structure	del af	Entire posterior segment of eyeball	false	Additional relationship	Some
Retinal structure	Laterality	Side	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Acquired night blindness	Finding site	True	Retinal structure	Inferred relationship	Some	1
Coloboma of retina	Finding site	True	Retinal structure	Inferred relationship	Some	1
Coloboma of choroid and retina	Finding site	True	Retinal structure	Inferred relationship	Some	2
Ischemia of retina due to type 2 diabetes mellitus (disorder)	Finding site	True	Retinal structure	Inferred relationship	Some	1
Ischemia of retina due to type 1 diabetes mellitus	Finding site	True	Retinal structure	Inferred relationship	Some	1
Retinal edema due to diabetes mellitus	Finding site	True	Retinal structure	Inferred relationship	Some	1
Ischemia of retina due to diabetes mellitus (disorder)	Finding site	True	Retinal structure	Inferred relationship	Some	1
Familial benign flecked retina is a rare retinal dystrophy characterized by diffuse bilateral white-yellow fleck-like lesions extending to the far periphery of the retina but sparing the foveal region, with asymptomatic clinical phenotype and absence of electrophysiologic deficits.	Finding site	True	Retinal structure	Inferred relationship	Some	1
Familial benign flecked retina is a rare retinal dystrophy characterized by diffuse bilateral white-yellow fleck-like lesions extending to the far periphery of the retina but sparing the foveal region, with asymptomatic clinical phenotype and absence of electrophysiologic deficits.	Finding site	True	Retinal structure	Inferred relationship	Some	2
Kandori fleck retina is a rare, genetic retinal dystrophy disorder characterized by irregular, sharply defined, yellowish-white lesions of variable size that are distributed mainly in the nasal equatorial region of the retina, with a tendency to confluence, that are not associated with any vascular or optic nerve abnormalities. They frequently manifest as mild and stationary night blindness.	Finding site	True	Retinal structure	Inferred relationship	Some	2
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.	Finding site	True	Retinal structure	Inferred relationship	Some	1
Intermediate uveitis	Finding site	True	Retinal structure	Inferred relationship	Some	2
A rare multiple congenital anomalies/dysmorphic syndrome characterized by severe global developmental delay, osteogenesis imperfecta, presence of wormian bones, seizures, ocular abnormalities (blue sclerae, optic atrophy, retinal detachment), and dysmorphic facial features (including frontal bossing, low anterior hairline, medial flare of the eyebrows, long eyelashes, hypertelorism, depressed nasal bridge, and low-set, large ears). There have been no further descriptions in the literature since 1994.	Finding site	True	Retinal structure	Inferred relationship	Some	2
A rare genetic eye disease characterized by abnormal proliferation of retinal tissue resulting in the formation of retinal folds, thereby causing gliosis and, clinically, variable degrees of visual impairment. No clinical findings other than those associated with the eyes have been demonstrated.	Finding site	True	Retinal structure	Inferred relationship	Some	1
Oral-facial-digital syndrome, type 9 is characterized by highly arched palate with bifid tongue and bilateral supernumerary lower canines, hamartomatous tongue, multiple frenula, hypertelorism, telecanthus, strabismus, broad and/or bifid nasal tip, short stature, bifid halluces, forked metatarsal, poly- and syndactyly, mild intellectual deficit and specific retinal abnormalities (bilateral optic disc coloboma and retinal dysplasia with partial detachment).	Finding site	True	Retinal structure	Inferred relationship	Some	1
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.	Finding site	True	Retinal structure	Inferred relationship	Some	1
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.	Finding site	True	Retinal structure	Inferred relationship	Some	1
Retinal degeneration-nanophthalmos-glaucoma syndrome is characterized by progressive pigmentary retinal degeneration (with nyctalopia and visual field restriction), cystic macular degeneration and angle closure glaucoma. It has been described in seven members of one family. Patients also have hyperopia and nanophthalmos. The mode of transmission is autosomal recessive.	Finding site	True	Retinal structure	Inferred relationship	Some	1
A rare multiple congenital malformation syndrome, characterized by an association of cleft lip and palate, patchy pigmentary retinopathy (cat's paw), obstructive liver disease (cholestasis, portal hypertension etc.) and obstructive renal disease (ectopic ureteric insertion, obstruction, vesicoureteral reflux and hydronephrosis). Gastrointestinal tract involvement (malrotation, gastroesophageal reflux etc.) and cardiac involvement (coarctation of aorta, pulmonary artery stenosis, etc.) have also been reported. An overlap with Kabuki syndrome is debated.	Finding site	True	Retinal structure	Inferred relationship	Some	2
An exceedingly rare association characterized by cleft lip and progressive retinopathy.	Finding site	True	Retinal structure	Inferred relationship	Some	2
A rare neurologic disease characterized by global developmental delay, intellectual disability, multiple ischemic lesions on brain MRI, behavioral abnormalities, dystonia, choreic movements and pyramidal syndrome, facial dysmorphism (hypertelorism, arched palate, macroglossia), retinitis pigmentosa, scoliosis, seizures.	Finding site	True	Retinal structure	Inferred relationship	Some	3
Bonnemann-Meinecke-Reich syndrome is a syndrome of multiple congenital anomalies characterized by an encephalopathy which predominantly occurs in the first year of life and presenting as psychomotor delay. Additional features of the disease include moderate dysmorphia, craniosynostosis, dwarfism (due to growth hormone deficiency), intellectual disability, spasticity, ataxia, retinal degeneration, and adrenal and uterine hypoplasia. The disease has been described in only two families, with each family having two affected siblings. An autosomal recessive inheritance has been suggested. There have been no further descriptions in the literature since 1991.	Finding site	True	Retinal structure	Inferred relationship	Some	2
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.	Finding site	False	Retinal structure	Inferred relationship	Some	1
Stickler syndrome	Finding site	False	Retinal structure	Inferred relationship	Some	2
Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome	Finding site	False	Retinal structure	Inferred relationship	Some	2
A rare subtype of Joubert syndrome (JS) and related disorders (JSRD) characterised by the neurological features of JS associated with both renal and ocular disease.	Finding site	True	Retinal structure	Inferred relationship	Some	2
Trichomegaly-retina pigmentary degeneration-dwarfism syndrome, also known as Oliver-McFarlane syndrome, is an extremely rare genetic disorder characterized by hair abnormalities, severe chorioretinal atrophy, hypopituitarism, short stature, and intellectual disability.	Finding site	True	Retinal structure	Inferred relationship	Some	3
Chorioretinitis with coccidioidmycosis (disorder)	Finding site	False	Retinal structure	Inferred relationship	Some	2
A rare genetic metabolite absorption and transport disorder characterised by progressive rod-cone dystrophy, usually presenting with impaired night vision in childhood, progressive loss of visual acuity and severe retinol deficiency without keratomalacia. Association with ocular colobomas, severe acne and hypercholesterolaemia has been reported. There is evidence the disease can be caused by homozygous or compound heterozygous mutation in the RBP4 gene chromosome 10q23.	Finding site	True	Retinal structure	Inferred relationship	Some	1
A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of moderate to severe intellectual disability, congenital aphonia, hearing loss, optic atrophy, retinal dystrophy, broad thumbs and duplicated halluces. Facial dysmorphism (including thick eyebrows, ptosis, long, downslanting palpebral fissures, microstomia, low-set, posteriorly rotated ears) and genital abnormalities are also associated.	Finding site	True	Retinal structure	Inferred relationship	Some	3
A rare hereditary non-syndromic form of vitreoretinopathy with characteristics of retinal tears due to abnormal vitreous and commonly present refractive errors. No other signs or symptoms of Stickler syndrome are present. Can be caused by mutation in the COL2A1 gene.	Finding site	True	Retinal structure	Inferred relationship	Some	1
A rare genetic retinal dystrophy disorder with characteristics of decreased central retinal sensitivity associated with hyper-reflectivity of ganglion cells and nerve fiber layer with loss of optic nerve fibers manifesting with photophobia, optic disc pallor and progressive loss of central vision with preservation of peripheral visual field. There is evidence the disease may be caused by heterozygous mutation in the ITM2B gene on chromosome 13q14.	Finding site	True	Retinal structure	Inferred relationship	Some	1
A rare genetic non-syndromic developmental defect of the eye disorder with the association of posterior microphthalmia, retinal dystrophy compatible with retinitis pigmentosa, localised foveal schisis and optic disc drusen. Patients present high hyperopia, usually adult-onset progressive nyctalopia and reduced visual acuity and on occasion acute-angle glaucoma. Caused by homozygous or compound heterozygous mutation in the MFRP gene on chromosome 11q23.	Finding site	True	Retinal structure	Inferred relationship	Some	4
A rare genetic developmental defect of the eye disease with characteristics of childhood onset of mild to severe myopia with microcornea and chorioretinal atrophy typically associated with telecanthus and posteriorly rotated ears. Other variable features include early-onset cataracts, ectopia lentis, ectopia pupil and retinal detachment. There is evidence the disease is caused by homozygous mutation in the ADAMTS18 gene on chromosome 16q23.	Finding site	True	Retinal structure	Inferred relationship	Some	2
Panuveitis	Finding site	False	Retinal structure	Inferred relationship	Some	2
Idiopathic panuveitis is a rare inflammatory eye disease, of unknown etiology, characterized by generalized inflammation of the uvea (iris, ciliary body, choroid), retina and vitreous with consequent ciliary spasm and posterior synechiae formation, leading to acute or chronic, unilateral or bilateral visual impairment and ocular discomfort or pain. Patients present an increased risk of development of cataracts, secondary glaucoma, cystoid macular edema and/or retinal detachment. It could potentially result in vision loss.	Finding site	False	Retinal structure	Inferred relationship	Some	2
Panuveitis of bilateral eyes (disorder)	Finding site	False	Retinal structure	Inferred relationship	Some	4
Sympathetic uveitis	Finding site	False	Retinal structure	Inferred relationship	Some	2
Panuveitis of right eye	Finding site	False	Retinal structure	Inferred relationship	Some	3
Ocular onchocerciasis	Finding site	False	Retinal structure	Inferred relationship	Some	5
Panuveitis of left eye (disorder)	Finding site	False	Retinal structure	Inferred relationship	Some	3
A rare granulomatous autoinflammatory disease with characteristics of infantile-onset, widespread, chronic, recurrent, progressive, lobular panniculitis associated with panuveitis, arthritis and severe systemic granulomatous inflammation.	Finding site	False	Retinal structure	Inferred relationship	Some	5
Onchocerca chorioretinitis	Finding site	True	Retinal structure	Inferred relationship	Some	1
A rare neurodegenerative disorder with characteristics of early onset of truncal hypotonia, variable forms of seizures, athetosis, severe global developmental delay, intellectual disability and various ophthalmologic abnormalities, including strabismus, nystagmus, optic atrophy and retinal degeneration. There is evidence the disease is caused by homozygous or compound heterozygous mutation in the aconitase-2 gene (ACO2) on chromosome 22q13.	Finding site	True	Retinal structure	Inferred relationship	Some	2
Chorioretinal scar of posterior pole of left eye	Finding site	False	Retinal structure	Inferred relationship	Some	3
Chorioretinal scar of posterior pole of right eye	Finding site	False	Retinal structure	Inferred relationship	Some	3
Chorioretinal scar of posterior pole of bilateral eyes	Finding site	False	Retinal structure	Inferred relationship	Some	5
Retinopathy as late effect of radiation	Finding site	True	Retinal structure	Inferred relationship	Some	1
Toxic retinopathy (disorder)	Finding site	True	Retinal structure	Inferred relationship	Some	1
Valsalva retinopathy	Finding site	True	Retinal structure	Inferred relationship	Some	1
Drug-induced retinopathy	Finding site	True	Retinal structure	Inferred relationship	Some	1
Hydrochloroquine retinopathy (disorder)	Finding site	True	Retinal structure	Inferred relationship	Some	1
Chloroquine retinopathy	Finding site	True	Retinal structure	Inferred relationship	Some	1
Desferrioxamine retinopathy	Finding site	True	Retinal structure	Inferred relationship	Some	1
Quinine retinopathy	Finding site	True	Retinal structure	Inferred relationship	Some	1
Tamoxifen retinopathy	Finding site	True	Retinal structure	Inferred relationship	Some	1
Thioridazine retinopathy	Finding site	True	Retinal structure	Inferred relationship	Some	1
Methanol retinopathy	Finding site	True	Retinal structure	Inferred relationship	Some	1
Retinitis sclopetaria	Finding site	True	Retinal structure	Inferred relationship	Some	1
Retinitis sclopetaria	Finding site	True	Retinal structure	Inferred relationship	Some	2
Retinopathy caused by trifluoperazine	Finding site	True	Retinal structure	Inferred relationship	Some	1
A rare hereditary ataxia with characteristics of simultaneous onset and development of cerebellar ataxia and chorioretinal degeneration (including macular degeneration, advancing choroidal sclerosis, punctata albescens, and retinitis pigmentosa). There have been no further descriptions in the literature since 1963.	Finding site	False	Retinal structure	Inferred relationship	Some	2
A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of facial dysmorphism (mild eyelid ptosis, xanthelasma, anteverted nostrils, bifid nasal tip, short palate), severe muscle wasting and cachexia, retinitis pigmentosa, numerous lentigines and cafe-au-lait spots, as well as mild soft tissue syndactyly. Additional features include nasal speech, chest asymmetry, pectus excavatum, genu varum, pes planus, and thyroid papillary carcinoma and diffuse enlargement. There has been no further description in the literature since 1984.	Finding site	True	Retinal structure	Inferred relationship	Some	1
A rare acquired retinal disorder with characteristics of unilateral acute onset rapidly progressive visual field loss. Sometimes patients have photopsia and complain of floaters. Typical ophthalmoscopic finding is a unilateral, yellowish-white annular intraretinal line, splitting the retinal field to affected outer retina with thinning and normal retina. Gradual spontaneous visual recovery has been observed.	Finding site	True	Retinal structure	Inferred relationship	Some	2
A rare genetic congenital limb malformation syndrome with characteristics of mild to severe short stature, brachydactyly and retinal degeneration (usually retinitis pigmentosa) associated with variable intellectual disability, developmental delay and craniofacial anomalies. There is evidence the disease is caused by homozygous or compound heterozygous mutation in the CWC27 gene on chromosome 5q12.	Finding site	True	Retinal structure	Inferred relationship	Some	3
Juxtapapillary focal chorioretinitis	Finding site	True	Retinal structure	Inferred relationship	Some	2
Peripheral focal retinochoroiditis (disorder)	Finding site	True	Retinal structure	Inferred relationship	Some	2
General disseminated chorioretinitis	Finding site	True	Retinal structure	Inferred relationship	Some	1
Histoplasma duboisii with retinitis	Finding site	True	Retinal structure	Inferred relationship	Some	1
Histoplasmosis with retinitis	Finding site	True	Retinal structure	Inferred relationship	Some	1
Toxocara chorioretinitis	Finding site	True	Retinal structure	Inferred relationship	Some	1
Bacterial chorioretinitis	Finding site	True	Retinal structure	Inferred relationship	Some	1
Dominant drusen	Finding site	True	Retinal structure	Inferred relationship	Some	2
Retinal vitelliform deposits	Finding site	True	Retinal structure	Inferred relationship	Some	1
Retinal drusen	Finding site	True	Retinal structure	Inferred relationship	Some	1
Sarcoid chorioretinitis	Finding site	True	Retinal structure	Inferred relationship	Some	1
Parasitic chorioretinitis	Finding site	True	Retinal structure	Inferred relationship	Some	1
objektivt: henførbar retinopati	Finding site	False	Retinal structure	Inferred relationship	Some	2
objektivt: ikke overført retinopati	Finding site	False	Retinal structure	Inferred relationship	Some	2
Generalized disseminated choroiditis AND chorioretinitis with acute necrosis (disorder)	Finding site	True	Retinal structure	Inferred relationship	Some	1
Subretinal fibrosis and uveitis syndrome (disorder)	Finding site	False	Retinal structure	Inferred relationship	Some	2
White dot syndrome (disorder)	Finding site	True	Retinal structure	Inferred relationship	Some	1
Chorioretinitis	Finding site	True	Retinal structure	Inferred relationship	Some	1
Reactivation of toxoplasmosis chorioretinitis	Finding site	True	Retinal structure	Inferred relationship	Some	1
Chorioretinitis caused by Cytomegalovirus (disorder)	Finding site	True	Retinal structure	Inferred relationship	Some	1
Adult retinoschisis (disorder)	Finding site	True	Retinal structure	Inferred relationship	Some	1
Panuveitis	Finding site	False	Retinal structure	Inferred relationship	Some	3
A rare granulomatous autoinflammatory disease with characteristics of infantile-onset, widespread, chronic, recurrent, progressive, lobular panniculitis associated with panuveitis, arthritis and severe systemic granulomatous inflammation.	Finding site	False	Retinal structure	Inferred relationship	Some	6
Stickler syndrome	Finding site	True	Retinal structure	Inferred relationship	Some	4
Infectious intermediate uveitis	Finding site	True	Retinal structure	Inferred relationship	Some	2
Infectious panuveitis	Finding site	False	Retinal structure	Inferred relationship	Some	3
Renal dysplasia and retinal aplasia	Finding site	True	Retinal structure	Inferred relationship	Some	2
Panuveitis caused by virus (disorder)	Finding site	True	Retinal structure	Inferred relationship	Some	3
Panuveitis caused by parasite (disorder)	Finding site	True	Retinal structure	Inferred relationship	Some	3
Panuveitis caused by Treponema pallidum (disorder)	Finding site	True	Retinal structure	Inferred relationship	Some	3
Panuveitis caused by Mycobacterium tuberculosis (disorder)	Finding site	True	Retinal structure	Inferred relationship	Some	3
Panuveitis caused by Borrelia burgdorferi (disorder)	Finding site	True	Retinal structure	Inferred relationship	Some	3
Panuveitis caused by Herpesvirus	Finding site	True	Retinal structure	Inferred relationship	Some	3
Retinopathy due to atherosclerosis (disorder)	Finding site	True	Retinal structure	Inferred relationship	Some	1
Leukocoria	Finding site	True	Retinal structure	Inferred relationship	Some	2
Congenital retinal dysplasia caused by teratogenic substance (disorder)	Finding site	True	Retinal structure	Inferred relationship	Some	1

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Reference Sets

Lateralizable body structure reference set (foundation metadata concept)

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

US English

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Id	Description	Lang	Type	Status	Case?	Module
10443013	Retina	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
497668013	Retinal structure	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
795186017	Retinal structure (body structure)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4151131000005118	struktur af retina	da	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Danish module (core metadata concept)