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5665001: Retinal structure (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
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
280141000077110 structure de la rétine fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
878521000172117 retina fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
930631000172114 rétine fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
1013441000172110 structure rétinienne fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module


222 descendants. Search Descendants:

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 Choroidal and/or retinal structures false Inferred relationship Some
Retinal structure partie de Entire tunica interna of eyeball false Additional relationship Some
Retinal structure partie de Entire posterior segment of eyeball false Additional relationship Some
Retinal structure Laterality Side (qualifier value) true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group
On examination - referable retinopathy Finding site False Retinal structure Inferred relationship Some 1
On examination - non-referable retinopathy Finding site False Retinal structure Inferred relationship Some 1
à l'examen : rétinopathie diabétique non proliférante de l'œil droit Finding site False Retinal structure Inferred relationship Some 2
à l'examen : rétinopathie diabétique non proliférante de l'œil gauche Finding site False Retinal structure Inferred relationship Some 4
à l'examen : rétinopathie diabétique préproliférante de l'œil droit Finding site False Retinal structure Inferred relationship Some 4
à l'examen : rétinopathie diabétique préproliférante de l'œil gauche Finding site False Retinal structure Inferred relationship Some 2
Retinopathy of prematurity stage 1 - demarcation line Finding site True Retinal structure Inferred relationship Some 1
Retinopathy of prematurity stage 2 - intraretinal ridge Finding site True Retinal structure Inferred relationship Some 1
Retinopathy of prematurity stage 3 - ridge with extraretinal fibrovascular proliferation Finding site True Retinal structure Inferred relationship Some 1
Retinopathy of prematurity stage 4 - subtotal retinal detachment Finding site True Retinal structure Inferred relationship Some 1
Retinopathy of prematurity stage 5 - total retinal detachment Finding site True Retinal structure Inferred relationship Some 1
Retinopathy of prematurity (disorder) Finding site True Retinal structure Inferred relationship Some 1
Rubeola retinopathy (disorder) Finding site False Retinal structure Inferred relationship Some 2
à l'examen : rétinopathie diabétique qui menace la vision Finding site False Retinal structure Inferred relationship Some 2
Retinopathy due to type 1 diabetes mellitus (disorder) Finding site True Retinal structure Inferred relationship Some 2
Retinopathy due to type 2 diabetes mellitus (disorder) Finding site True Retinal structure Inferred relationship Some 2
Nonproliferative retinopathy due to type 2 diabetes mellitus (disorder) Finding site True Retinal structure Inferred relationship Some 2
Nonproliferative diabetic retinopathy due to type 1 diabetes mellitus Finding site True Retinal structure Inferred relationship Some 2
Mild nonproliferative retinopathy due to type 1 diabetes mellitus Finding site True Retinal structure Inferred relationship Some 2
Moderate nonproliferative retinopathy due to type 1 diabetes mellitus (disorder) Finding site True Retinal structure Inferred relationship Some 2
Mild nonproliferative retinopathy due to type 2 diabetes mellitus Finding site True Retinal structure Inferred relationship Some 2
Moderate nonproliferative retinopathy due to type 2 diabetes mellitus (disorder) Finding site True Retinal structure Inferred relationship Some 2
Mild nonproliferative retinopathy due to secondary diabetes mellitus Finding site True Retinal structure Inferred relationship Some 2
Non-proliferative retinopathy due to secondary diabetes mellitus (disorder) Finding site True Retinal structure Inferred relationship Some 2
Moderate non-proliferative retinopathy due to secondary diabetes mellitus (disorder) Finding site True Retinal structure Inferred relationship Some 2
Vogt-Koyanagi-Harada disease Finding site True Retinal structure Inferred relationship Some 2
Toxoplasmosis chorioretinitis (disorder) Finding site False Retinal structure Inferred relationship Some 3
Inactive toxoplasmosis chorioretinitis Finding site False Retinal structure Inferred relationship Some 3
Retinopathy caused by canthaxanthin (disorder) Finding site True Retinal structure Inferred relationship Some 1
Joubert syndrome with ocular defect is, along with pure JS, the most frequent subtype of Joubert syndrome and related disorders characterized by the neurological features of JS associated with retinal dystrophy. Finding site True Retinal structure Inferred relationship Some 2
Reactivation of toxoplasmosis chorioretinitis Finding site False Retinal structure Inferred relationship Some 3
Vitreoretinal adhesion (disorder) Finding site True Retinal structure Inferred relationship Some 2
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 False Retinal structure Inferred relationship Some 5
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 3
Primary ciliary dyskinesia - retinitis pigmentosa is an X-linked ciliary dysfunction of both respiratory epithelium and photoreceptors of the retina leading to ocular disorders (mild night blindness, constriction of the visual field, and scotopic and photopic ERG responses reduced to 30-60%) associated with primary ciliary dyskinesia manifestations (chronic bronchorrhea with bronchiectasis and chronic sinusitis) and sensorineural hearing loss. Finding site True Retinal structure Inferred relationship Some 3
Primary ciliary dyskinesia - retinitis pigmentosa is an X-linked ciliary dysfunction of both respiratory epithelium and photoreceptors of the retina leading to ocular disorders (mild night blindness, constriction of the visual field, and scotopic and photopic ERG responses reduced to 30-60%) associated with primary ciliary dyskinesia manifestations (chronic bronchorrhea with bronchiectasis and chronic sinusitis) and sensorineural hearing loss. Finding site False Retinal structure Inferred relationship Some 2
Late-onset retinal degeneration is an inherited retinal dystrophy characterized by delayed dark adaptation and nyctalopia and drusen deposits presenting in adulthood, followed by cone and rod degeneration that presents in the sixth decade of life, which leads to central vision loss. Anterior segment features such as peripupillary iris transillumination defects and abnormally long anterior zonular insertions are also observed. Choroidal neovascularization and glaucoma may occur in the late stages of the disease. Finding site True Retinal structure Inferred relationship Some 1
Cone dystrophy with supernormal rod response (CDSRR) is an inherited retinopathy, with an onset in the first or second decade of life, characterized by poor visual acuity (due to central scotoma), photophobia, severe dyschromatopsia, and occasionally, nystagmus. Night blindness usually develops later in the course of the disease, but it can also be apparent from childhood. A hallmark of CDSRR is the decreased and delayed dark-adapted response to dim flashes in electroretinographic recordings, which contrasts with the supernormal b-wave response at the highest levels of stimulation. Finding site False Retinal structure Inferred relationship Some 1
Benign concentric annular macular dystrophy (BCAMD) is a progressive autosomal dominant macular dystrophy characterized by parafoveal hypopigmentation followed by a retinitis pigmentosa-like phenotype (nyctalopia and peripheral vision loss) with a bull's eye configuration. Finding site False Retinal structure Inferred relationship Some 2
Retinopathy due to diabetes mellitus Finding site True Retinal structure Inferred relationship Some 2
Coats' disease Finding site True Retinal structure Inferred relationship Some 2
Progressive bifocal chorioretinal atrophy (PBCRA) is an early onset chorioretinal dystrophy characterised by large atrophic macular and nasal retinal lesions, nystagmus, myopia, poor vision, and slow disease progression. 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 False Retinal structure Inferred relationship Some 6
Acute posterior multifocal placoid pigment epitheliopathy Finding site True Retinal structure Inferred relationship Some 3
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 False Retinal structure Inferred relationship Some 10
Leber's amaurosis Finding site True Retinal structure Inferred relationship Some 2
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 False Retinal structure Inferred relationship Some 4
An X-linked retinal dystrophy characterized by choroideremia, causing in affected males progressive nyctalopia and eventual central blindness. Obesity, moderate intellectual disability and congenital mixed (sensorineural and conductive) deafness are also observed. Female carriers show typical retinal changes indicative of the choroideremia carrier state. Finding site False Retinal structure Inferred relationship Some 5
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 False Retinal structure Inferred relationship Some
Diabetic retinal eye exam (procedure) Procedure site - Direct (attribute) True Retinal structure Inferred relationship Some 2
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 False Retinal structure Inferred relationship Some 4
A rare non-progressive form of cone photoreceptor dysfunction syndrome characterized by reduced visual acuity, normal fundus appearance and absent or reduced cone responses on electroretinography. In contrast to all other forms of cone dysfunction color vision is normal. Finding site True Retinal structure Inferred relationship Some 1
syndrome de nanisme ostéochondrodysplasique-surdité-rétinopathie pigmentaire Finding site False Retinal structure Inferred relationship Some 7
Adult retinoschisis (disorder) Finding site False Retinal structure Inferred relationship Some 3
Adult retinoschisis (disorder) Finding site False Retinal structure Inferred relationship Some 4
Adult retinoschisis (disorder) Finding site True Retinal structure Inferred relationship Some 5
Background retinopathy due to impaired glucose regulation (disorder) Finding site True Retinal structure Inferred relationship Some 1
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 False Retinal structure Inferred relationship Some 5
Histoplasma capsulatum with retinitis Finding site False Retinal structure Inferred relationship Some 5
Histoplasma duboisii with retinitis Finding site False Retinal structure Inferred relationship Some 4
Histoplasmosis with retinitis Finding site False Retinal structure Inferred relationship Some 4
A rare, genetic, syndromic intellectual disability disorder characterized by the association of nonprogressive spastic quadriparesis, retinitis pigmentosa, intellectual disability, and variable deafness. There have been no further descriptions in the literature since 1976. Finding site True Retinal structure Inferred relationship Some 3
Chorioretinal atrophy Finding site True Retinal structure Inferred relationship Some 3
Gyrate atrophy Finding site True Retinal structure Inferred relationship Some 2
This rare neurologic disease is a slowly progressive Refsum-like disorder associating signs of peripheral neuropathy with late-onset hearing loss, cataract and pigmentary retinopathy that become evident during the third decade of life. Finding site True Retinal structure Inferred relationship Some 3
Revesz syndrome is a rare severe phenotypic variant of dyskeratosis congenita with an onset in early childhood, characterized by features of DC (e.g. skin hyper/hypopigmentation, nail dystrophy, oral leukoplakia, high risk of bone marrow failure (BMF) and cancer, developmental delay sparse and fine hair) in conjunction with bilateral exudative retinopathy, and intracranial calcifications. Finding site False Retinal structure Inferred relationship Some 5
Pigmented paravenous retinochoroidal atrophy (PPRCA) is a rare, commonly bilateral and symmetric retinal disease characterized by non-progressive or slowly progressive chorioretinal atrophy, peripapillary pigmentary changes and accumulation of bone-corpuscle pigmentation along the retinal veins and which is usually asymptomatic or can present with mild blurred vision. Finding site True Retinal structure Inferred relationship Some 2
Revesz syndrome is a rare severe phenotypic variant of dyskeratosis congenita with an onset in early childhood, characterized by features of DC (e.g. skin hyper/hypopigmentation, nail dystrophy, oral leukoplakia, high risk of bone marrow failure (BMF) and cancer, developmental delay sparse and fine hair) in conjunction with bilateral exudative retinopathy, and intracranial calcifications. Finding site True Retinal structure Inferred relationship Some 6
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 False Retinal structure Inferred relationship Some 2
A rare retinal dystrophy, characterized by central visual loss in the first 2 decades of life, associated with an absent electrooculogram (EOG) light rise and a reduced electroretinogram (ERG). Finding site True Retinal structure Inferred relationship Some 1
A rare genetic, syndromic retinal disorder characterized by the association of retinitis pigmentosa, hypopituitarism, nephronophthisis, and skeletal dysplasia. Finding site False Retinal structure Inferred relationship Some 5
A rare genetic, syndromic retinal disorder characterized by the association of retinitis pigmentosa, hypopituitarism, nephronophthisis, and skeletal dysplasia. Finding site True Retinal structure Inferred relationship Some 4
A rare systemic disease characterized by progressive hyalinosis involving capillaries, arterioles and small veins of the digestive tract, kidneys, and retina, associated with idiopathic cerebral calcifications, manifesting with severe diarrhea (with rectal bleeding and malabsorption), nephropathy (with renal failure and systemic hypertension), chorioretinal scarring, and subarachnoid hemorrhage. Poikiloderma and premature graying of the hair may be additionally observed. Finding site True Retinal structure Inferred relationship Some 2
Retinohepatoendocrinologic syndrome (disorder) Finding site False Retinal structure Inferred relationship Some 4
Posterior column ataxia - retinitis pigmentosa is characterized by the association of progressive sensory ataxia and retinitis pigmentosa. Finding site True Retinal structure Inferred relationship Some 2
An X-linked recessive retinal disease characterized by fundus hypopigmentation, decreased visual acuity, nystagmus, astigmatism, progressive axial myopia, defective dark adaptation and protanopia. Finding site True Retinal structure Inferred relationship Some 1
Autoimmune retinopathy (disorder) Finding site True Retinal structure Inferred relationship Some 1
Ataxia co-occurrent and due to phytanic acid storage disease (disorder) Finding site True Retinal structure Inferred relationship Some 6
An exceedingly rare association characterized by cleft lip and progressive retinopathy. Finding site False Retinal structure Inferred relationship Some 4
X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome is a rare genetic neurometabolic disease characterized by severe intellectual disability, spastic quadriparesis, Leber congenital amaurosis and diabetes insipidus. Additional manifestations include facial dysmorphy (dolichocephalic skull, hypertelorism, deep-set eyes, hypoplastic nares, low-set ears), short stature, truncal hypotonia and axial hypertonia. Brain anomalies (e.g. thin corpus callosum with lack of isthmus and tapered splenium, hypoplasia or atrophy of the optic chiasm, prominent lateral ventricles, diminished white matter), described on magnetic resonance imaging, have been reported. High prenatal alpha-fetoprotein and intrauterine growth restriction is observed in routine pregnancy examination. Finding site True Retinal structure Inferred relationship Some 4
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 False Retinal structure Inferred relationship Some 5
A rare endocrine syndrome characterized by the association of hypogonadotropic hypogonadism (with primary amenorrhea and lack of secondary sexual development) and retinitis pigmentosa. Finding site True Retinal structure Inferred relationship Some 3
A rare syndromic retinitis pigmentosa characterized by pigmentary retinopathy, diabetes mellitus with hyperinsulinism, acanthosis nigricans, secondary cataracts, neurogenic deafness, short stature mild hypogonadism in males and polycystic ovaries with oligomenorrhea in females. Inheritance is thought to be autosomal recessive. It can be distinguished from Alstrom syndrome by the presence of intellectual disability and the absence of renal insufficiency. There have been no further descriptions in the literature since 1993. Finding site True Retinal structure Inferred relationship Some 4
Primary malignant neuroepithelial neoplasm of retina (disorder) Finding site False Retinal structure Inferred relationship Some 2
Primary malignant neuroepithelial neoplasm of retina (disorder) Finding site False Retinal structure Inferred relationship Some 3
Chorioretinal scars following retinal detachment surgery (disorder) Finding site True Retinal structure Inferred relationship Some 3
Traumatic hemorrhage of retina (disorder) Finding site False Retinal structure Inferred relationship Some 2
Traumatic hemorrhage of retina (disorder) Finding site True Retinal structure Inferred relationship Some 3
Retinal tear without detachment (disorder) Finding site True Retinal structure Inferred relationship Some 2
Horseshoe tear of retina of left eye without detachment (disorder) Finding site False Retinal structure Inferred relationship Some 2
Horseshoe tear of retina of right eye without detachment (disorder) Finding site False Retinal structure Inferred relationship Some 2
Giant retinal tear Finding site False Retinal structure Inferred relationship Some 3
Chondroectodermal dysplasia with night blindness is a rare genetic bone development disorder characterized by proportionate short stature, nail dysplasia (enlarged, convex, hypertrophic nails), hypodontia and night blindness. Osteopenia, a tendency to present fractures, talipes varus with abnormal gait, ear infections, and watering eyes due to narrow tear ducts are frequently associated. Radiologically patients present delayed bone age on wrist X-rays, platyspondyly, and broad metaphyses of humeri with dense and thickened growth plates. Finding site True Retinal structure Inferred relationship Some 4
Fundus albipunctatus is a rare, genetic retinal dystrophy disorder characterized by the presence of numerous small, round, yellowish-white retinal lesions that are distributed throughout the retina but spare the fovea. Patients present in childhood with non-progressive night blindness with prolonged cone and rod adaptation times. The macula may or may not be involved, which may result in a decrease of central visual acuity with age. Finding site True Retinal structure Inferred relationship Some 1
Biallelic mutation carriers have a mutation (not necessarily the same mutation) in both copies of a particular gene (a paternal and a maternal mutation). The RPE65 gene provides instructions for making an enzyme that is essential for normal vision and mutations in this gene result in reduced or absent levels of RPE65 activity, blocking the visual cycle and resulting in impaired vision. Almost all patients eventually progress to complete blindness. Finding site False Retinal structure Inferred relationship Some 1
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 1
Alstrom syndrome Finding site True Retinal structure Inferred relationship Some 1
Plaque radiotherapy of lesion of retina (procedure) Procedure site - Indirect (attribute) True Retinal structure Inferred relationship Some 1
Acquired color vision deficiency Finding site True Retinal structure Inferred relationship Some 1
Night blindness co-occurrent and due to vitamin A deficiency (disorder) Finding site True Retinal structure Inferred relationship Some 1
Acquired night blindness 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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