FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.22-SNAPSHOT  |  FHIR Version n/a  User: [n/a]

81745001: Structure of eye proper (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
135599015 Eye en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
135601018 Eyeball en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
504780011 Eye structure en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
504781010 Eyeball structure en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
1204881015 Structure of eye proper (body structure) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
2671957014 Structure of eye proper en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
274971000077119 structure de l'oeil fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
918961000172116 structure de l'œil fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
959291000172115 œil fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
995081000172116 oculus fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
997961000172119 bulbe de l'œil fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
1004911000172117 globe oculaire fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
7023681000241115 structure de l'œil propre fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

943 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Eye structure Is a 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). false Inferred relationship Some
Eye structure Is a Orbital region structure false Inferred relationship Some
Eye structure partie de Entire visual system false Inferred relationship Some
Eye structure partie de Entire orbital region false Inferred relationship Some
Eye structure Is a Eye region structure (body structure) true Inferred relationship Some
Eye structure partie de Entire head false Additional relationship Some
Eye structure Laterality Side (qualifier value) true Inferred relationship Some
Eye structure partie de Entire visual system false Additional relationship Some
Eye structure Is a Structure of sensory organ true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
White forelock with malformations is a multiple congenital anomalies syndrome characterized by poliosis, distinct facial features (epicanthal folds, hypertelorism, posterior rotation of ears, prominent philtrum, high-arched palate) and congenital anomalies/malformations of the eye (blue sclera), cardiopulmonary (atrial septal defect, prominent thoracic and abdominal veins), and skeletal (clinodactyly, syndactyly of the fingers and 2nd and 3rd toes) systems. There have been no further descriptions in the literature since 1980. Finding site True Eye structure Inferred relationship Some 4
Burn of eye proper (disorder) Finding site True Eye structure Inferred relationship Some 1
Rupture of eyeball due to and after burn injury (disorder) Finding site True Eye structure Inferred relationship Some 1
X-linked cerebral-cerebellar-coloboma syndrome is a rare, genetic syndrome with a cerebellar malformation as major feature characterized by cerebellar vermis hypo- or aplasia, ventriculomegaly, agenesis of corpus callosum and abnormalities of the brainstem and cerebral cortex in association with ocular coloboma. Clinically, patients show hydrocephalus at birth, neonatal hypotonia with abnormal breathing pattern, ocular abnormalities with impaired vision, severe psychomotor delay, and seizures. Finding site True Eye structure Inferred relationship Some 1
X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome is a rare syndromic microphthalmia disorder characterized by microphthalmia with coloboma (which may involve the iris, ciliary body, choroid, retina and/or optic nerve), microcephaly, short stature and intellectual disability. Other eye abnormalities such as pendular nystagmus, esotropia and ptosis may also be present. Additional associated abnormalities include kyphoscoliosis, anteverted pinnae with minimal convolutions, diastema of the incisors and congenital pes varus. Finding site True Eye structure Inferred relationship Some 1
Meningococcal eye disease Finding site True Eye structure Inferred relationship Some 1
Neonatal dacryocystitis or conjunctivitis caused by virus Finding site True Eye structure Inferred relationship Some 1
Neonatal dacryocystitis or conjunctivitis caused by Staphylococcus (disorder) Finding site True Eye structure Inferred relationship Some 1
Neonatal dacryocystitis or conjunctivitis caused by Escherichia coli (disorder) Finding site True Eye structure Inferred relationship Some 1
Oculoglandular listeriosis Finding site True Eye structure Inferred relationship Some 1
Intractable diarrhea-choanal atresia-eye anomalies syndrome is characterized by the association of intractable diarrhea of infancy with choanal atresia. Short stature, a prominent and broad nasal bridge, micrognathia, single palmar creases, chronic corneal inflammation, cytopenia, and abnormal hair texture were also reported. So far, the syndrome has been described in three children from the same family. The absence of intellectual deficit and immune deficiency allow this syndrome to be distinguished from other forms of intractable diarrhea of infancy described previously. Finding site True Eye structure Inferred relationship Some 3
Duane syndrome with vertical deviation (disorder) Finding site True Eye structure Inferred relationship Some 1
Tyrosinase-negative oculocutaneous albinism Finding site True Eye structure Inferred relationship Some 2
A rare primary glomerular disease characterized by the association of congenital nephrotic syndrome, early onset renal failure and ocular anomalies with microcoria and severe neurodevelopment deficits. Finding site True Eye structure Inferred relationship Some 1
Ocular albinism with late-onset sensorineural deafness is a rare, X-linked inherited subtype of ocular albinism characterized by severe visual impairment, translucent pale-blue irises, a reduction in the retinal pigment and moderately severe deafness with onset ranging from adolescence to fourth or fifth decade of life. Finding site True Eye structure Inferred relationship Some 1
A rare genetic disease characterized by bilateral Duane retraction syndrome type 3 (consisting of severe limitation of abduction, restriction of adduction, retraction of the globe, and narrowing of the palpebral fissure) and congenital myopathy manifesting as mild non-progressive hypotonia without muscular weakness, as well as delayed motor milestones, severe early-onset scoliosis, and short stature. Intelligence is normal. Finding site True Eye structure Inferred relationship Some 2
A rare multiple congenital anomalies/dysmorphic syndrome characterized by intellectual disability, growth retardation, unilateral preaxial polydactyly, and colobomatous anomalies (including coloboma of the iris, optic nerve head, choroid, and retina). There have been no further descriptions in the literature since 1987. Finding site True Eye structure Inferred relationship Some 1
Minimal pigment oculocutaneous albinism Finding site True Eye structure Inferred relationship Some 2
Temperature-sensitive oculocutaneous albinism (disorder) Finding site True Eye structure Inferred relationship Some 2
Yellow mutant oculocutaneous albinism Finding site True Eye structure Inferred relationship Some 2
Congenital cataracts, facial dysmorphism and neuropathy Finding site True Eye structure Inferred relationship Some 1
A rare, genetic congenital malformation syndrome characterized by bilateral anophthalmia (or less commonly microphthalmia) in association with a variable combination of the following: pulmonary hypoplasia or agenesis, congenital diaphragmatic hernia or eventration, and variable cardiovascular defects (congenital heart defects and/or pulmonary artery atresia). Intellectual disability is noted in surviving patients. Other variable malformations affecting different organ systems, as well as facial dysmorphism, may be observed. Finding site True Eye structure Inferred relationship Some 1
Yemenite deaf-blind hypopigmentation syndrome is an exceedingly rare genetic disorder characterized by cutaneous pigmentation anomalies, ocular disorders and hearing loss. Finding site True Eye structure Inferred relationship Some 1
A rare ectodermal dysplasia characterized by the association of epibulbar dermoids and aplasia cutis congenital. Finding site True Eye structure Inferred relationship Some 1
Black locks, oculocutaneous albinism, AND deafness of the sensorineural type Finding site True Eye structure Inferred relationship Some 2
Tyrosinase-positive oculocutaneous albinism Finding site True Eye structure Inferred relationship Some 2
A rare multiple congenital anomalies/dysmorphic syndrome characterized by intellectual disability, severe visual impairment due to ocular malformations (microphthalmos and microcornea with sclerocornea), short stature, hypotrichosis, dental anomalies, and dysmorphic facial features (such as a narrow nasal bridge with marked distal flaring and low-set, protruding ears). There have been no further descriptions in the literature since 1992. Finding site True Eye structure Inferred relationship Some 1
A rare, genetic, syndromic intellectual disability characterized by severe intellectual disability, distinctive craniofacial features and variable multiple congenital anomalies including ocular, brain, urogenital and skeletal abnormalities. Finding site True Eye structure Inferred relationship Some 2
Vici syndrome is a very rare and severe congenital multisystem disorder characterized by the principal features of agenesis of the corpus callosum, cataracts, oculocutaneous hypopigmentation, cardiomyopathy and combined immunodeficiency. Finding site True Eye structure Inferred relationship Some 2
Brown oculocutaneous albinism Finding site True Eye structure Inferred relationship Some 2
Oculocutaneous albinism Finding site True Eye structure Inferred relationship Some 2
Hermansky-Pudlak syndrome Finding site True Eye structure Inferred relationship Some 2
Rufous albinism Finding site True Eye structure Inferred relationship Some 2
A rare genetic disease characterized by congenital oculocutaneous hypopigmentation, visual impairment, generalized osteoporosis with skeletal anomalies such as short stature, short neck and trunk, kyphosis, scoliosis, and platyspondyly, and dysmorphic facial features (including long philtrum, small mouth, micrognathia, and prominent ears). Moderate joint hyperelasticity and muscular hypotrophy have also been reported. Finding site True Eye structure Inferred relationship Some 1
This syndrome is characterized by the association of microtia, eye coloboma, and imperforation of the nasolacrimal duct. Finding site True Eye structure Inferred relationship Some 2
A rare syndromic intellectual deficiency characterized by psychomotor delay, severe progressive spastic quadriplegia, microcephaly, and a Hallermann-Streiff-like phenotype including absence of eyebrows and eyelashes, glaucoma, and small, beaked nose. Structural central nervous system abnormalities (cervical spinal cyst, occipital cranium bifidum occulatum) were additional findings. There have been no further descriptions in the literature since 1974. Finding site True Eye structure Inferred relationship Some 2
Lowry-MacLean syndrome is a very rare syndrome characterized by microcephaly, craniosynostosis, glaucoma, growth failure and visceral malformations. Finding site True Eye structure Inferred relationship Some 3
A very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities. Finding site True Eye structure Inferred relationship Some 3
Ocular blastomycosis (disorder) Finding site True Eye structure Inferred relationship Some 1
RAB18 deficiency causes two disorders with similar signs and symptoms; Warburg micro syndrome and Martsolf syndrome. Both of these diseases are considered to be part of the same disease spectrum because of similar features and shared genetic cause. Manifestations include eye problems from birth including cataracts, microphthalmia and microcornea, intellectual disability, delayed development hypotonia, spasticity and joint contractures. Martsolf syndrome affects the same body systems as Warburg micro syndrome but is usually less severe. RAB18 deficiency is caused by mutations in the RAB3GAP1, RAB3GAP2, RAB18, or TBC1D20 gene. Finding site True Eye structure Inferred relationship Some 1
albinisme oculaire avec surdité neurosensorielle congénitale Finding site False Eye structure Inferred relationship Some 3
A rare syndromic microphthalmia characterized by bilateral, usually asymmetrical, microphthalmia associated typically with a unilateral coloboma, truncal obesity, borderline to mild intellectual disability, hypogenitalism and, more variably, nystagmus, cataracts and developmental delay. Finding site True Eye structure Inferred relationship Some 3
Cysticercosis of eye Finding site True Eye structure Inferred relationship Some 1
Hyperaemia of eye Finding site True Eye structure Inferred relationship Some 1
Fungal infection of eye Finding site True Eye structure Inferred relationship Some 1
A rare, genetic, syndromic intellectual disability disorder characterized by congenital, external, nuclear ophthalmoplegia, lingua scrotalis, progressive chorioretinal sclerosis and intellectual disability. Bilateral ptosis, bilateral facial weakness, Parinaud's syndrome, convergence paresis and myopia may be associated. There have been no further descriptions in the literature since 1975. Finding site False Eye structure Inferred relationship Some 2
A rare, systemic amyloidosis characterized by a triad of ophthalmologic, neurologic and dermatologic findings due to the deposition of gelsolin amyloid fibrils in these tissues. Clinical manifestations include corneal lattice dystrophy, cranial neuropathy, especially affecting the facial nerve, bulbar signs, cutis laxa, increased skin fragility, and less commonly peripheral neuropathy and renal failure. Finding site True Eye structure Inferred relationship Some 4
Ocular onchocerciasis Finding site True Eye structure Inferred relationship Some 1
Diagnostic dye to eye (procedure) Procedure site - Direct (attribute) True Eye structure Inferred relationship Some 1
Sticking of eyelids due to discharge from eyes (finding) Finding site False Eye structure Inferred relationship Some 2
Fluorescein staining of eye (procedure) Procedure site - Direct (attribute) True Eye structure Inferred relationship Some 1
Rose bengal staining of eye (procedure) Procedure site - Direct (attribute) True Eye structure Inferred relationship Some 1
Punctate oculocutaneous albinoidism Finding site True Eye structure Inferred relationship Some 2
Discharge from eye Finding site False Eye structure Inferred relationship Some 1
Lissamine green B staining of eye (procedure) Procedure site - Direct (attribute) True Eye structure Inferred relationship Some 1
Electromyogram examination of eye Procedure site - Direct (attribute) True Eye structure Inferred relationship Some 1
Ocular laceration with prolapse AND/OR exposure of intraocular tissue Finding site True Eye structure Inferred relationship Some 1
Neonatal infection of the eye Finding site True Eye structure Inferred relationship Some 1
Buphthalmos (finding) Finding site True Eye structure Inferred relationship Some 1
Contact lens submitted as specimen (specimen) Specimen source topography False Eye structure Inferred relationship Some 1
Tonometry AND/OR tonography procedure Procedure site - Direct (attribute) False Eye structure Inferred relationship Some 1
Closed blunt force injury to eye (disorder) Finding site True Eye structure Inferred relationship Some 1
A rare congenital muscular alpha-dystroglycanopathy with brain and eye anomalies disease characterized by a severe muscle-eye-brain disease-like phenotype associated with intellectual disability, muscular dystrophy, macrocephaly and extended bilateral multicystic white matter disease. Finding site True Eye structure Inferred relationship Some 5
cataracte avec néovascularisation Finding site False Eye structure Inferred relationship Some 2
sclérose mésangiale diffuse avec anomalies oculaires Finding site True Eye structure Inferred relationship Some 1
Ocular toxocariasis Finding site True Eye structure Inferred relationship Some 1
Adhesion of pupillary membrane (disorder) Finding site True Eye structure Inferred relationship Some 1
Adhesion of pupillary membrane (disorder) Finding site True Eye structure Inferred relationship Some 2
Lowe syndrome Finding site False Eye structure Inferred relationship Some 3
Wildervanck syndrome Finding site True Eye structure Inferred relationship Some 4
Glaucoma caused by contact lens Finding site False Eye structure Inferred relationship Some 2
Glaucoma due to eye inflammation (disorder) Finding site False Eye structure Inferred relationship Some 1
Glaucoma due to intraocular neoplasm Finding site False Eye structure Inferred relationship Some 1
Glaucoma due to retinal detachment (disorder) Finding site True Eye structure Inferred relationship Some 1
Infection of eye caused by Borrelia (disorder) Finding site True Eye structure Inferred relationship Some 1
Normal pressure primary open-angle glaucoma Finding site False Eye structure Inferred relationship Some 1
Ocular late syphilis Finding site True Eye structure Inferred relationship Some 1
Eye does not move up (finding) Finding site True Eye structure Inferred relationship Some 1
Eye does not move left (finding) Finding site True Eye structure Inferred relationship Some 1
Eye does not move right (finding) Finding site True Eye structure Inferred relationship Some 1
Absence of downward movement of eye (finding) Finding site True Eye structure Inferred relationship Some 1
Positive angle kappa Finding site True Eye structure Inferred relationship Some 1
Negative angle kappa (finding) Finding site True Eye structure Inferred relationship Some 1
On examination - positive angle kappa Finding site False Eye structure Inferred relationship Some 1
On examination - negative angle kappa Finding site False Eye structure Inferred relationship Some 1
Choristoma of eye proper (disorder) Finding site True Eye structure Inferred relationship Some 1
Dermoid cyst of eye proper Finding site True Eye structure Inferred relationship Some 1
At least 1 of these in 1 eye: optic nerve or nerve fibre layer suggestive of glaucoma; abnormal visual field consistent with glaucoma; an elevated IOP > 22 mm Hg. Finding site True Eye structure Inferred relationship Some 2
Assessment using eye tracking technology (procedure) Procedure site - Direct (attribute) True Eye structure Inferred relationship Some 1
Chalcosis of eye Finding site True Eye structure Inferred relationship Some 1
Overlapping malignant neoplasm of eye and adnexa (primary) Finding site True Eye structure Inferred relationship Some 2
Glaucoma caused by silicone oil Finding site False Eye structure Inferred relationship Some 1
Heerfordt's syndrome Finding site True Eye structure Inferred relationship Some 4
Piggyback lens implantation (procedure) Procedure site - Indirect (attribute) False Eye structure Inferred relationship Some 2
Normal eye proper (finding) Finding site True Eye structure Inferred relationship Some 2
Glaucoma due to diabetes mellitus Finding site True Eye structure Inferred relationship Some 1
Malignant melanoma of overlapping sites of eye and adnexa Finding site True Eye structure Inferred relationship Some 2
Penetrating wound of eyeball with foreign body Finding site True Eye structure Inferred relationship Some 1
Penetrating wound of eyeball with foreign body Finding site True Eye structure Inferred relationship Some 2
Ocular hypertension due to birth injury (disorder) Finding site True Eye structure Inferred relationship Some 1
Glaucoma of childhood Finding site True Eye structure Inferred relationship Some 1

Start Previous Page 48 of 50 Next End

Reference Sets

Lateralizable body structure reference set (foundation metadata concept)

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

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

Back to Start