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244486005: Entire eye (body structure)

    Status: retired, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 01-Oct 2023. Module: SNOMED CT core

    Descriptions:

    Id Description Lang Type Status Case? Module
    365611016 Entire eye en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
    634304016 Entire eye (body structure) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
    3327597015 Entire globe en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
    1105021000241114 œil entier fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

    0 descendants.

    Expanded Value Set

    Outbound Relationships Type Target Active Characteristic Refinability Group Values
    œil entier Is a Visual system subdivision false Inferred relationship Some
    œil entier Is a Entire sensory organ false Inferred relationship Some
    œil entier Is a Eye structure false Inferred relationship Some
    œil entier partie de Entire orbital region false Additional relationship Some
    œil entier partie de Entire visual system false Inferred relationship Some
    œil entier Laterality Side (qualifier value) false Inferred relationship Some
    Inbound Relationships Type Active Source Characteristic Refinability Group
    Enucleation of eye without implant Procedure site False œil entier Inferred relationship Some 1
    Excision of eye with implant and attachment of muscles Procedure site False œil entier Inferred relationship Some 1
    Specimen from eye obtained by enucleation (specimen) Specimen source topography False œil entier Inferred relationship Some
    Implantation of inert material in Tenon's capsule with enucleation of eyeball (procedure) Procedure site False œil entier Inferred relationship Some 2
    Enucleation of eyeball with implant into Tenon's capsule (procedure) Procedure site False œil entier Inferred relationship Some 3
    Enucleation of eyeball with insertion of orbital implant (procedure) Procedure site False œil entier Inferred relationship Some 3
    Specimen from retina obtained by enucleation of eye (specimen) Specimen source topography False œil entier Inferred relationship Some
    Specimen from uvea obtained by enucleation of eye (specimen) Specimen source topography False œil entier Inferred relationship Some
    Inferior temporal quadrant of eye proper partie de False œil entier Additional relationship Some
    Superior nasal quadrant of eye proper partie de False œil entier Additional relationship Some
    Inferior nasal quadrant of eye proper partie de False œil entier Additional relationship Some
    Superior temporal quadrant of eye proper partie de False œil entier Additional relationship Some
    œil droit entier Is a False œil entier Inferred relationship Some
    œil gauche entier Is a False œil entier Inferred relationship Some
    Macrophthalmos Finding site False œil entier Inferred relationship Some 2
    Cross syndrome Finding site False œil entier Inferred relationship Some 4
    Dysplasia of eye Finding site False œil entier Inferred relationship Some 3
    Simple microphthalmos Finding site False œil entier Inferred relationship Some 2
    Mikrophthalmus in Verbindung mit anderen Anomalien des Auges UND/ODER der Augenanhangsgebilde Finding site False œil entier Inferred relationship Some 2
    Lenz microphthalmia syndrome (disorder) Finding site False œil entier Inferred relationship Some 2
    Microphthalmos Finding site False œil entier Inferred relationship Some 2
    Hypoplasia of eye Finding site False œil entier Inferred relationship Some 2
    Lenz microphthalmia syndrome (disorder) Finding site False œil entier Inferred relationship Some 1
    Simple microphthalmos Finding site False œil entier Inferred relationship Some 1
    Dysplasia of eye Finding site False œil entier Inferred relationship Some 2
    Microphthalmos Finding site False œil entier Inferred relationship Some 1
    Cross syndrome Finding site False œil entier Inferred relationship Some 2
    Hypoplasia of eye Finding site False œil entier Inferred relationship Some 1
    Hypoplasia of eye Finding site False œil entier Inferred relationship Some 3
    Mikrophthalmus in Verbindung mit anderen Anomalien des Auges UND/ODER der Augenanhangsgebilde Finding site False œil entier Inferred relationship Some 1
    Agenesis of eye Finding site False œil entier Inferred relationship Some 1
    Anophthalmos Finding site False œil entier Inferred relationship Some 3
    Anophthalmos Finding site False œil entier Inferred relationship Some 4
    Colobomatous microphthalmia is a developmental disorder of the eye characterized by unilateral or bilateral microphthalmia associated with ocular coloboma. Finding site False œil entier Inferred relationship Some 3
    The MMEP syndrome is a congenital syndromic form of split-hand/foot malformation. It is characterized by microcephaly, microphthalmia, ectrodactyly of the lower limbs and prognathism. Intellectual deficit has been reported. MMEP syndrome is considered to be a very rare condition, although the exact prevalence remains unknown. The etiology is not completely understood. Disruption of the sorting nexin 3 gene (SNX3; 6q21) has been shown to play a causative role in MMEP, although this was not confirmed in recent studies. Finding site False œil entier Inferred relationship Some 4
    Oculocerebral dysplasia syndrome Finding site False œil entier Inferred relationship Some 2
    A rare ophthalmic disease and a severe form of microphthalmia (small eye phenotype) characterized by a small eye with a short axial length, severe hyperopia, an elevated lens/eye ratio, and a high incidence of angle-closure glaucoma. Finding site False œil entier Inferred relationship Some 1
    Microphthalmia-ankyloblepharon-intellectual disability syndrome is characterized by microphthalmia, ankyloblepharon and intellectual deficit. It has been described in seven male patients from two generations of a Northern Ireland family. The causative gene is localized to the Xq27-q28 region. The syndrome is transmitted as an X-linked recessive trait. Finding site False œil entier Inferred relationship Some 2
    Syndromic microphthalmia, type 5 is characterized by the association of a range of ocular anomalies (anophthalmia, microphthalmia and retinal abnormalities) with variable developmental delay and central nervous system malformations. Finding site False œil entier Inferred relationship Some 1
    A rare genetic neurodegenerative disorder characterized by congenital microphthalmia, sunken eyes, blindness, microcephaly, severe intellectual disability, progressive spasticity, and seizures. Psychomotor development is normal in the first 6-8 months of life and thereafter declines rapidly and continuously. Brain MRI reveals progressive and extensive degenerative changes, especially cortex, cerebellum, brainstem, and corpus callosum atrophy, with complete loss of cerebral white matter. Finding site False œil entier Inferred relationship Some 2
    A very rare multiple congenital anomaly syndrome characterized by the presence of anophthalmia or severe microphthalmia, cleft lip/palate, facial cleft and sacral neural tube defects, along with various additional anomalies including congenital glaucoma, iris coloboma, primary hyperplastic vitreous, hypertelorism, low-set ears, clinodactyly, choanal atresia/stenosis, dysgenesis of sacrum, tethering of spinal cord, syringomyelia, hypoplasia of corpus callosum, cerebral ventriculomegaly and endocrine abnormalities. An autosomal recessive inheritance has been suggested. Finding site False œil entier Inferred relationship Some 2
    A very rare multiple congenital anomaly syndrome characterized by the presence of anophthalmia or severe microphthalmia, cleft lip/palate, facial cleft and sacral neural tube defects, along with various additional anomalies including congenital glaucoma, iris coloboma, primary hyperplastic vitreous, hypertelorism, low-set ears, clinodactyly, choanal atresia/stenosis, dysgenesis of sacrum, tethering of spinal cord, syringomyelia, hypoplasia of corpus callosum, cerebral ventriculomegaly and endocrine abnormalities. An autosomal recessive inheritance has been suggested. Finding site False œil entier Inferred relationship Some 3
    A malformation disorder characterized by complete or incomplete absence of nose (arrhinia), choanal atresia, microphthalmia, anophthalmia and cleft or high palate. Finding site False œil entier Inferred relationship Some 5
    A rare X-linked, syndromic eye disorder characterized by ocular defects (microphthalmia, orbital cysts, corneal opacities) and linear skin dysplasia of the neck, head, and chin. Additional findings may include agenesis of corpus callosum, sclerocornea, chorioretinal abnormalities, hydrocephalus, seizures, intellectual deficit, and nail dystrophy. Finding site False œil entier Inferred relationship Some 2
    A rare X-linked, syndromic eye disorder characterized by ocular defects (microphthalmia, orbital cysts, corneal opacities) and linear skin dysplasia of the neck, head, and chin. Additional findings may include agenesis of corpus callosum, sclerocornea, chorioretinal abnormalities, hydrocephalus, seizures, intellectual deficit, and nail dystrophy. Finding site False œil entier Inferred relationship Some 3
    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 œil entier Inferred relationship Some 2
    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 œil entier Inferred relationship Some 3
    This syndrome is characterized by the association of severe nasal hypoplasia, hypoplasia of the eyes, hyposmia, hypogeusia and hypogonadotropic hypogonadism. Finding site False œil entier Inferred relationship Some 6
    This syndrome is characterized by the association of severe nasal hypoplasia, hypoplasia of the eyes, hyposmia, hypogeusia and hypogonadotropic hypogonadism. Finding site False œil entier Inferred relationship Some 9
    This syndrome is characterized by the association of severe nasal hypoplasia, hypoplasia of the eyes, hyposmia, hypogeusia and hypogonadotropic hypogonadism. Finding site False œil entier 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 œil entier Inferred relationship Some 2
    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 False œil entier Inferred relationship Some 3
    Anophthalmos Finding site False œil entier Inferred relationship Some 1
    A rare genetic neurodegenerative disorder characterized by congenital microphthalmia, sunken eyes, blindness, microcephaly, severe intellectual disability, progressive spasticity, and seizures. Psychomotor development is normal in the first 6-8 months of life and thereafter declines rapidly and continuously. Brain MRI reveals progressive and extensive degenerative changes, especially cortex, cerebellum, brainstem, and corpus callosum atrophy, with complete loss of cerebral white matter. Finding site False œil entier Inferred relationship Some 1
    Macrophthalmos Finding site False œil entier Inferred relationship Some 1
    This syndrome is characterized by the association of severe nasal hypoplasia, hypoplasia of the eyes, hyposmia, hypogeusia and hypogonadotropic hypogonadism. Finding site False œil entier Inferred relationship Some 1
    A malformation disorder characterized by complete or incomplete absence of nose (arrhinia), choanal atresia, microphthalmia, anophthalmia and cleft or high palate. Finding site False œil entier Inferred relationship Some 2
    Microphthalmia-ankyloblepharon-intellectual disability syndrome is characterized by microphthalmia, ankyloblepharon and intellectual deficit. It has been described in seven male patients from two generations of a Northern Ireland family. The causative gene is localized to the Xq27-q28 region. The syndrome is transmitted as an X-linked recessive trait. Finding site False œil entier Inferred relationship Some 1
    Macrosomia-microphthalmia-cleft palate syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by early macrosomia, bilateral severe microphthalmia and a protuberant abdomen with hepatomegaly. Additional reported features include brachycephaly, large fontanelles, prominent forehead, upturned nose and median cleft palate. Cyanotic apneic spells and overwhelming infection lead to death within the first 6 months of life. There have been no further descriptions in the literature since 1989. Finding site False œil entier Inferred relationship Some 1
    Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome is a rare, genetic, orofacial clefting malformation syndrome characterized by severe frontonasal dysplasia with complete cleft palate, facial cleft, extreme microphthalmia and hypertelorism, frequently associated with eyelid colobomata, sparse or absent eyelashes/eyebrows, wide nasal bridge with hypoplastic alae nasi, low-set, posteriorly rotated ears and caudal appendage in the sacral region. Finding site False œil entier Inferred relationship Some 3
    Microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome is a rare, genetic, non-syndromic developmental defect of the eye disorder characterized by the association of posterior microphthalmia, retinal dystrophy compatible with retinitis pigmentosa, localized 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. Finding site False œil entier Inferred relationship Some 2
    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 False œil entier Inferred relationship Some 2
    Congenital cystic eyeball (disorder) Finding site False œil entier Inferred relationship Some 2
    Traumatic enucleation of eye Finding site False œil entier Inferred relationship Some 2
    Microphthalmos due to branchio-oculo-facial syndrome Finding site False œil entier Inferred relationship Some 1
    Microphthalmos due to Fryns syndrome (disorder) Finding site False œil entier Inferred relationship Some 1
    Microphthalmos due to Delleman syndrome (disorder) Finding site False œil entier Inferred relationship Some 1
    A rare genetic eye disease characterized by microcornea, coloboma of the iris and the optic disc, axial enlargement of the globe, staphyloma, and severe myopia. Additional manifestations are mild cornea plana, iridocorneal angle abnormalities with elevation of intraocular pressure, and shallow anterior chamber depth. Variable expressivity of the phenotype has been described, including unilateral or bilateral involvement, or variable extent of coloboma, among other features. Finding site False œil entier Inferred relationship Some 4
    Congenital anophthalmos with orbital implant Finding site False œil entier Inferred relationship Some 1
    Syndromic nanophthalmos due to Kenny-Caffey syndrome Finding site False œil entier Inferred relationship Some 1

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    POSSIBLY EQUIVALENT TO association reference set (foundation metadata concept)

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