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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
Histoplasma capsulatum with retinitis Finding site False Eye structure Inferred relationship Some 4
Ocular cryptococcosis (disorder) Finding site False Eye structure Inferred relationship Some 3
Progressive outer retinal necrosis Finding site False Eye structure Inferred relationship Some 3
Parasitic endophthalmitis (disorder) Finding site False Eye structure Inferred relationship Some 3
Meningococcal eye disease Finding site False Eye structure Inferred relationship Some 3
Fungal infection of eye Finding site False Eye structure Inferred relationship Some 2
Cryptococcal endophthalmitis (disorder) Finding site False Eye structure Inferred relationship Some 3
Toxocara endophthalmitis (disorder) Finding site False Eye structure Inferred relationship Some 3
Ocular blastomycosis (disorder) Finding site False Eye structure Inferred relationship Some 2
Cytomegaloviral retinitis Finding site False Eye structure Inferred relationship Some 4
Histoplasmosis with retinitis Finding site False Eye structure Inferred relationship Some 3
Epstein-Barr virus infection of the retina (disorder) Finding site False Eye structure Inferred relationship Some 3
Ocular toxoplasmosis (disorder) Finding site False Eye structure Inferred relationship Some 4
Herpes zoster retinitis (disorder) Finding site False Eye structure Inferred relationship Some 4
Measles keratoconjunctivitis Finding site False Eye structure Inferred relationship Some 5
uvéite liée à la reconstitution immunitaire Finding site False Eye structure Inferred relationship Some 5
Glaucoma caused by silicone oil Finding site False Eye structure Inferred relationship Some 2
SOX2 anophthalmia syndrome Finding site False Eye structure Inferred relationship Some 2
Toxocara chorioretinitis Finding site False Eye structure Inferred relationship Some 4
Ocular toxocariasis Finding site False Eye structure Inferred relationship Some 2
Parasitic eye infection Finding site True Eye structure Inferred relationship Some 1
Ocular toxoplasmosis (disorder) Finding site False Eye structure Inferred relationship Some 2
Toxocara granuloma (disorder) Finding site True Eye structure Inferred relationship Some 2
Colobomatous microphthalmia is a developmental disorder of the eye characterized by unilateral or bilateral microphthalmia associated with ocular coloboma. Finding site False Eye structure Inferred relationship Some 5
Colobomatous microphthalmia is a developmental disorder of the eye characterized by unilateral or bilateral microphthalmia associated with ocular coloboma. Finding site False Eye structure Inferred relationship Some 4
A form of oculocutaneous albinism characterized by varying degrees of skin and hair hypopigmentation, numerous ocular changes and misrouting of the optic nerves at the chiasm. Finding site False Eye structure Inferred relationship Some 4
Implantation of prosthetic intraocular lens (procedure) Procedure site - Indirect (attribute) False Eye structure Inferred relationship Some 2
Secondary piggyback lens implantation (procedure) Procedure site - Indirect (attribute) False Eye structure Inferred relationship Some 3
insertion bilatérale d'une lentille intraoculaire prothétique Procedure site - Indirect (attribute) False Eye structure Inferred relationship Some 3
Dyssegmental dysplasia with glaucoma syndrome Finding site False Eye structure Inferred relationship Some
A rare multiple congenital anomalies syndrome characterized by upper limb defects (hypoplastic thumb with hypoplasia of the metacarpal bone and phalanges and delayed bone maturation), developmental delay, central hearing loss, unilateral poorly developed antihelix, bilateral choroid coloboma and growth retardation. Finding site False Eye structure Inferred relationship Some 3
A rare multiple congenital anomalies syndrome characterized by upper limb defects (hypoplastic thumb with hypoplasia of the metacarpal bone and phalanges and delayed bone maturation), developmental delay, central hearing loss, unilateral poorly developed antihelix, bilateral choroid coloboma and growth retardation. Finding site True Eye structure Inferred relationship Some 2
CHIME syndrome is a rare ectodermal dysplasia syndrome characterized by ocular colobomas, cardiac defects, ichthyosiform dermatosis, intellectual disability, conductive hearing loss and epilepsy. Finding site False Eye structure Inferred relationship Some 10
Ophthalmic examination: no abnormality detected Finding site False Eye structure Inferred relationship Some 1
Microcephaly - albinism - digital anomalies syndrome is a very rare syndrome associating microcephaly, micrognathia, oculocutaneous albinism, hypoplasia of the distal phalanx of fingers and agenesia of the distal end of the right big toe. Finding site False Eye structure Inferred relationship Some 8
An orofacial clefting syndrome that is characterized by a cleft palate, ocular coloboma, hypospadias, mixed conductive-sensorineural hearing loss, short stature, and radio-ulnar synostosis. Finding site False Eye structure Inferred relationship Some 3
Infection of eye caused by Avian Paramyxovirus 1 (disorder) Finding site True Eye structure Inferred relationship Some 1
Congenital oculocutaneous hypopigmentation Finding site False Eye structure Inferred relationship Some 3
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 False Eye structure Inferred relationship Some 6
Glaucoma-sleep apnea syndrome is characterized by sleep apnea associated with glaucoma. It has been described in five members of a family (the mother and four of her children). Finding site True Eye structure Inferred relationship Some 2
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 False Eye structure Inferred relationship Some 7
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 False Eye structure Inferred relationship Some 5
A rare syndrome of multiple congenital anomalies characterized by radial ray malformations, renal abnormalities (mild malrotation, ectopia, horseshoe kidney, renal hypoplasia, vesico-ureteral reflux, bladder diverticula), and ophthalmological abnormalities (mainly colobomas, but also microphthalmia, ptosis, and Duane anomaly). The phenotype overlaps with other SALL4-related disorders including Okihiro syndrome and Holt-Oram syndrome. Finding site False Eye structure Inferred relationship Some 5
A rare syndrome of multiple congenital anomalies characterized by radial ray malformations, renal abnormalities (mild malrotation, ectopia, horseshoe kidney, renal hypoplasia, vesico-ureteral reflux, bladder diverticula), and ophthalmological abnormalities (mainly colobomas, but also microphthalmia, ptosis, and Duane anomaly). The phenotype overlaps with other SALL4-related disorders including Okihiro syndrome and Holt-Oram syndrome. Finding site True Eye structure Inferred relationship Some 3
Yemenite deaf-blind hypopigmentation syndrome is an exceedingly rare genetic disorder characterized by cutaneous pigmentation anomalies, ocular disorders and hearing loss. Finding site False Eye structure Inferred relationship Some 3
Microphthalmia with brain and digit anomalies is characterized by anophthalmia or microphthalmia, retinal dystrophy, and/or myopia, associated in some cases with cerebral anomalies. It has been described in two families. Polydactyly may also be present. Linkage analysis allowed identification of mutations in the BMP4 gene, which has already been shown to play a role in eye development. Finding site True Eye structure Inferred relationship Some 1
Lowry-MacLean syndrome is a very rare syndrome characterized by microcephaly, craniosynostosis, glaucoma, growth failure and visceral malformations. Finding site False Eye structure Inferred relationship Some
Closed injury of eyeball (disorder) 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 False Eye structure Inferred relationship Some 4
A form of oculocutaneous albinism characterized by white skin, golden hair, photophobia, nystagmus, foveal hypoplasia and impaired visual acuity, that affects males and females equally. Patients have been reported only in a consanguineous Pakistani family. The responsible gene has not yet been detected. Finding site False Eye structure Inferred relationship Some 4
A form of oculocutaneous albinism characterized by light hair at birth that darkens with age, white skin, transparent irides, photophobia, nystagmus, foveal hypoplasia and reduced visual acuity. Finding site False Eye structure Inferred relationship Some 4
A form of oculocutaneous albinism (OCA) characterized by skin and hair hypopigmentation (light blond to dark brown), nystagmus, iris transillumination, visual acuity ranging from 6/9 to 3/60 and hypopigmentation of the peripheral ocular fundus. Photophobia is not a major feature. Finding site False Eye structure Inferred relationship Some 4
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 False Eye structure Inferred relationship Some 6
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 False Eye structure Inferred relationship Some 3
Penetrating wound of eyeball without foreign body (disorder) Finding site True Eye structure Inferred relationship Some 1
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 False Eye structure Inferred relationship Some 4
Axial displacement of eyeball (disorder) Finding site True Eye structure Inferred relationship Some 1
Prosthetic eye in situ (finding) Finding site False Eye structure Inferred relationship Some 1
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 False Eye structure Inferred relationship Some 7
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 False Eye structure Inferred relationship Some 7
Ocular laceration without prolapse or loss of intraocular tissue Finding site False Eye structure Inferred relationship Some 1
A rare ectodermal dysplasia characterized by the association of epibulbar dermoids and aplasia cutis congenital. Finding site False Eye structure Inferred relationship Some 3
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 False Eye structure Inferred relationship Some 2
This syndrome is characterized by the association of microtia, eye coloboma, and imperforation of the nasolacrimal duct. Finding site False Eye structure Inferred relationship Some 5
Colobomatous microphthalmia is a developmental disorder of the eye characterized by unilateral or bilateral microphthalmia associated with ocular coloboma. Finding site True Eye structure Inferred relationship Some 1
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 False Eye structure Inferred relationship Some 1
CHIME syndrome is a rare ectodermal dysplasia syndrome characterized by ocular colobomas, cardiac defects, ichthyosiform dermatosis, intellectual disability, conductive hearing loss and epilepsy. Finding site True Eye structure Inferred relationship Some 1
Demyelination of central nervous system co-occurrent and due to Sjogren disease (disorder) Finding site False Eye structure Inferred relationship Some 6
An orofacial clefting syndrome that is characterized by a cleft palate, ocular coloboma, hypospadias, mixed conductive-sensorineural hearing loss, short stature, and radio-ulnar synostosis. Finding site True Eye structure Inferred relationship Some 2
Spastic paraplegia-glaucoma-intellectual disability syndrome is characterized by progressive spastic paraplegia, glaucoma and intellectual deficit. It has been described in two families. The second described sibship was born to consanguineous parents. The mode of inheritance is autosomal recessive. Finding site False Eye structure Inferred relationship Some 3
Deformity of eyeball Finding site True Eye structure Inferred relationship Some 1
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 False 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 False Eye structure Inferred relationship Some 7
Disorder due to insertion of glaucoma drainage device (disorder) Finding site False Eye structure Inferred relationship Some 1
Disorder of eye co-occurrent and due to Marfan syndrome (disorder) Finding site True Eye structure Inferred relationship Some 1
Disorder of eye caused by Toxoplasma gondii (disorder) Finding site True Eye structure Inferred relationship Some 1
Eye appearance abnormal Finding site True Eye structure Inferred relationship Some 1
Eye sensation abnormal Finding site True Eye structure Inferred relationship Some 1
Renal coloboma syndrome (disorder) Finding site True Eye structure Inferred relationship Some 2
Disorder of eye due to type 1 diabetes mellitus (disorder) Finding site True Eye structure Inferred relationship Some 2
Binasal heteronymous quadrantanopia (finding) Finding site False Eye structure Inferred relationship Some 1
Bitemporal heteronymous quadrantanopia (finding) Finding site False Eye structure Inferred relationship Some 1
Pediatric onset Sjögren syndrome Finding site False Eye structure Inferred relationship Some 3
Repair of penetrating eye injury (procedure) Procedure site - Direct (attribute) True Eye structure Inferred relationship Some 1
Congenital trigeminal anesthesia is a rare neuro-ophthalmological disorder characterized by a congenital sensory deficit involving all or some of the sensory components of the trigeminal nerve. Due to corneal anesthesia, it usually presents with recurrent, painless eye infections, painless corneal opacities and/or poorly healing, ulcerated wounds on the facial skin and mucosa (typically the buccal mucosa and/or nasal septum). Finding site True Eye structure Inferred relationship Some 3
Oculoauricular syndrome, Schorderet type is a rare, genetic developmental defect during embryogenesis syndrome characterized by various ophthalmic anomalies (including congenital microphthalmia, microcornea, cataract, anterior segment dysgenesis, ocular coloboma and early onset rod-cone dystrophy) and abnormal external ears (low-set pinna with crumpled helix, narrow intertragic incisures, abnormal bridge connecting the crus of the helix and the antihelix, narrow external acoustic meatus, and lobule aplasia). Finding site True Eye structure Inferred relationship Some 2
Ophthalmic myiasis Finding site False Eye structure Inferred relationship Some 1
Colobomatous microphthalmia-rhizomelic dysplasia syndrome is a rare, genetic developmental defect during embryogenesis characterized by a range of developmental eye anomalies (including anophthalmia, microphthalmia, colobomas, microcornea, corectopia, cataract) and symmetric limb rhizomelia with short stature and contractures of large joints. Intellectual disability with autistic features, macrocephaly, dysmorphic features, urogenital anomalies (hypospadia, cryptorchidism), cutaneous syndactyly and precocious puberty may also be present. Finding site True Eye structure Inferred relationship Some 1
A form of oculocutaneous albinism characterized by white skin, golden hair, photophobia, nystagmus, foveal hypoplasia and impaired visual acuity, that affects males and females equally. Patients have been reported only in a consanguineous Pakistani family. The responsible gene has not yet been detected. Finding site True Eye structure Inferred relationship Some 2
A form of oculocutaneous albinism (OCA) characterized by skin and hair hypopigmentation (light blond to dark brown), nystagmus, iris transillumination, visual acuity ranging from 6/9 to 3/60 and hypopigmentation of the peripheral ocular fundus. Photophobia is not a major feature. Finding site True Eye structure Inferred relationship Some 2
A form of oculocutaneous albinism characterized by light hair at birth that darkens with age, white skin, transparent irides, photophobia, nystagmus, foveal hypoplasia and reduced visual acuity. Finding site True Eye structure Inferred relationship Some 2
Microcephaly - albinism - digital anomalies syndrome is a very rare syndrome associating microcephaly, micrognathia, oculocutaneous albinism, hypoplasia of the distal phalanx of fingers and agenesia of the distal end of the right big toe. Finding site True Eye structure Inferred relationship Some 5
A form of oculocutaneous albinism (OCA) characterized by a spectrum of hypopigmentation of skin hair and eyes, ranging from little or no pigmentation to localized pigmentation. Nystagmus, photophobia and reduced visual acuity are frequently present. The subtypes include OCA1A, OCA1B, type 1 minimal pigment oculocutaneous albinism (OCA1-MP) and type 1 temperature sensitive oculocutaneous albinism (OCA1-TS). Finding site True Eye structure Inferred relationship Some 2
A form of oculocutaneous albinism characterized by varying degrees of skin and hair hypopigmentation, numerous ocular changes and misrouting of the optic nerves at the chiasm. Finding site True Eye structure Inferred relationship Some 2
A form of oculocutaneous albinism characterized by white skin, golden hair, photophobia, nystagmus, foveal hypoplasia and impaired visual acuity, that affects males and females equally. Patients have been reported only in a consanguineous Pakistani family. The responsible gene has not yet been detected. Finding site False Eye structure Inferred relationship Some 1
A form of oculocutaneous albinism (OCA) characterized by skin and hair hypopigmentation (light blond to dark brown), nystagmus, iris transillumination, visual acuity ranging from 6/9 to 3/60 and hypopigmentation of the peripheral ocular fundus. Photophobia is not a major feature. Finding site False Eye structure Inferred relationship Some 1
A form of oculocutaneous albinism characterized by light hair at birth that darkens with age, white skin, transparent irides, photophobia, nystagmus, foveal hypoplasia and reduced visual acuity. Finding site False Eye structure Inferred relationship Some 1
Microcephaly - albinism - digital anomalies syndrome is a very rare syndrome associating microcephaly, micrognathia, oculocutaneous albinism, hypoplasia of the distal phalanx of fingers and agenesia of the distal end of the right big toe. Finding site False Eye structure Inferred relationship Some 4
A form of oculocutaneous albinism (OCA) characterized by a spectrum of hypopigmentation of skin hair and eyes, ranging from little or no pigmentation to localized pigmentation. Nystagmus, photophobia and reduced visual acuity are frequently present. The subtypes include OCA1A, OCA1B, type 1 minimal pigment oculocutaneous albinism (OCA1-MP) and type 1 temperature sensitive oculocutaneous albinism (OCA1-TS). Finding site False Eye structure Inferred relationship Some 1
A form of oculocutaneous albinism characterized by varying degrees of skin and hair hypopigmentation, numerous ocular changes and misrouting of the optic nerves at the chiasm. Finding site False Eye structure Inferred relationship Some 1
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

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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)

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