1290040004: Entire eye proper (body structure)

SNOMED CT Concept\Body structure (body structure)\Anatomical or acquired body structure (body structure)\Anatomical structure\...

\An anatomical structure that consists of the maximal set of organ parts so connected to one another that together they constitute a self-contained unit of macroscopic anatomy, distinct both morphologically and functionally from other such units. Together with other organs, an organ constitutes an organ system or a body part. An organ is divisible into organ parts but not organs (examples: femur, biceps, liver, heart, aorta, sciatic nerve, ovary).\Structure of sensory organ\Eye structure\Entire eye proper

\Body system structure\Structure of special senses organ system\The eye, ocular adnexa, afferent visual pathways, efferent visual pathways, and pupil innervation pathways\Eye region structure (body structure)\Eye structure\Entire eye proper

Status: current, 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

5266642012 Entire eye proper en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

5266643019 Entire eye proper (body structure) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Entire eye proper	Is a	Eye structure	true	Inferred relationship	Some
Entire eye proper	Laterality	Side (qualifier value)	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Entire left eye proper (body structure)	Is a	True	Entire eye proper	Inferred relationship	Some
Entire right eye proper	Is a	True	Entire eye proper	Inferred relationship	Some
Hypoplasia of eye	Finding site	True	Entire eye proper	Inferred relationship	Some	1
Congenital cystic eyeball (disorder)	Finding site	True	Entire eye proper	Inferred relationship	Some	2
Mikrophthalmus in Verbindung mit anderen Anomalien des Auges UND/ODER der Augenanhangsgebilde	Finding site	False	Entire eye proper	Inferred relationship	Some	1
Dysplasia of eye	Finding site	True	Entire eye proper	Inferred relationship	Some	2
Simple microphthalmos	Finding site	True	Entire eye proper	Inferred relationship	Some	1
Lenz microphthalmia syndrome (disorder)	Finding site	True	Entire eye proper	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	Entire eye proper	Inferred relationship	Some	3
Colobomatous microphthalmia is a developmental disorder of the eye characterized by unilateral or bilateral microphthalmia associated with ocular coloboma.	Finding site	True	Entire eye proper	Inferred relationship	Some	2
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	True	Entire eye proper	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	True	Entire eye proper	Inferred relationship	Some	3
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	True	Entire eye proper	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	True	Entire eye proper	Inferred relationship	Some	1
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	True	Entire eye proper	Inferred relationship	Some	2
A malformation disorder characterized by complete or incomplete absence of nose (arrhinia), choanal atresia, microphthalmia, anophthalmia and cleft or high palate.	Finding site	True	Entire eye proper	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	True	Entire eye proper	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	True	Entire eye proper	Inferred relationship	Some	2
This syndrome is characterized by the association of severe nasal hypoplasia, hypoplasia of the eyes, hyposmia, hypogeusia and hypogonadotropic hypogonadism.	Finding site	True	Entire eye proper	Inferred relationship	Some	1
Anophthalmos	Finding site	True	Entire eye proper	Inferred relationship	Some	1
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	True	Entire eye proper	Inferred relationship	Some	4
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	True	Entire eye proper	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	True	Entire eye proper	Inferred relationship	Some	1
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	True	Entire eye proper	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	True	Entire eye proper	Inferred relationship	Some	2
Microphthalmos	Finding site	True	Entire eye proper	Inferred relationship	Some	1
Macrophthalmos	Finding site	True	Entire eye proper	Inferred relationship	Some	1
Traumatic enucleation of eye	Finding site	True	Entire eye proper	Inferred relationship	Some	2
Microphthalmos due to Fryns syndrome (disorder)	Finding site	True	Entire eye proper	Inferred relationship	Some	1
Microphthalmos due to Delleman syndrome (disorder)	Finding site	True	Entire eye proper	Inferred relationship	Some	1
Microphthalmos due to branchio-oculo-facial syndrome	Finding site	True	Entire eye proper	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	True	Entire eye proper	Inferred relationship	Some	4
Congenital anophthalmos with orbital implant	Finding site	True	Entire eye proper	Inferred relationship	Some	1
Syndromic nanophthalmos due to Kenny-Caffey syndrome	Finding site	True	Entire eye proper	Inferred relationship	Some	1
Excision of eye with implant and attachment of muscles	Procedure site - Direct (attribute)	True	Entire eye proper	Inferred relationship	Some	1
Enucleation of eyeball	Procedure site - Direct (attribute)	True	Entire eye proper	Inferred relationship	Some	1
Enucleation of eye without implant	Procedure site - Direct (attribute)	True	Entire eye proper	Inferred relationship	Some	1
Enucleation of eyeball with implant into Tenon's capsule (procedure)	Procedure site - Direct (attribute)	True	Entire eye proper	Inferred relationship	Some	1
Implantation of inert material in Tenon's capsule with enucleation of eyeball (procedure)	Procedure site - Direct (attribute)	True	Entire eye proper	Inferred relationship	Some	2
Enucleation of eyeball with insertion of orbital implant (procedure)	Procedure site - Direct (attribute)	True	Entire eye proper	Inferred relationship	Some	2
A rare syndromic optic nerve hypoplasia with characteristics of coloboma, osteopetrosis (particularly of the anterior ribs and femoral heads), severe microphthalmia, macrocephaly, albinism, and profound congenital deafness. Patients may also have additional eye anomalies including microcornea with pannus, dense bilateral cataracts, and translucent irides. Craniofacial dysmorphism (including frontal bossing, shallow orbits, preauricular pits, posteriorly rotated ears, micrognathia and wide palatine ridges) is also reported.	Finding site	True	Entire eye proper	Inferred relationship	Some	1
Monophthalmos	Finding site	True	Entire eye proper	Inferred relationship	Some	1

Reference Sets

Lateralizable body structure reference set (foundation metadata concept)

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Id	Description	Lang	Type	Status	Case?	Module
5266642012	Entire eye proper	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5266643019	Entire eye proper (body structure)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core