1290040004: Entire eye proper (body structure)

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

\Body organ structure\Structure of sensory organ (body structure)\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\Eye structure\Entire eye proper

\Body region structure\Structure of half of body lateral to midsagittal plane\Structure of half of head lateral to midsagittal plane\Eye region structure\Eye structure\Entire eye proper
\Body region structure\Body part structure\Upper body structure\Upper body part structure\Structure of head and/or neck (body structure)\Head structure (body structure)\Head part\Head region structure\Structure of half of head lateral to midsagittal plane\Eye region 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

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	Existential restriction modifier (core metadata concept)
Entire eye proper	Laterality	Side	true	Inferred relationship	Existential restriction modifier (core metadata concept)

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Entire left eye proper (body structure)	Is a	True	Entire eye proper	Inferred relationship	Existential restriction modifier (core metadata concept)
Entire right eye proper (body structure)	Is a	True	Entire eye proper	Inferred relationship	Existential restriction modifier (core metadata concept)
Hypoplasia of eye	Finding site	True	Entire eye proper	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital cystic eyeball	Finding site	True	Entire eye proper	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Mikrophthalmus in Verbindung mit anderen Anomalien des Auges UND/ODER der Augenanhangsgebilde	Finding site	False	Entire eye proper	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Dysplasia of eye	Finding site	True	Entire eye proper	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Simple microphthalmos	Finding site	True	Entire eye proper	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Lenz microphthalmia syndrome (disorder)	Finding site	True	Entire eye proper	Inferred relationship	Existential restriction modifier (core metadata concept)	1
X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome	Finding site	True	Entire eye proper	Inferred relationship	Existential restriction modifier (core metadata concept)	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	Existential restriction modifier (core metadata concept)	2
Macrosomia, microphthalmia, cleft palate syndrome	Finding site	True	Entire eye proper	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Frontonasal dysplasia, severe microphthalmia, severe facial clefting syndrome	Finding site	True	Entire eye proper	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Syndromic microphthalmia due to orthodenticle homeobox 2 mutation (disorder)	Finding site	True	Entire eye proper	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Microphthalmia with brain atrophy syndrome (disorder)	Finding site	True	Entire eye proper	Inferred relationship	Existential restriction modifier (core metadata concept)	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	Existential restriction modifier (core metadata concept)	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	Existential restriction modifier (core metadata concept)	2
A rare X-linked, syndromic eye disorder characterised 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	Existential restriction modifier (core metadata concept)	2
Retinal degeneration, nanophthalmos, glaucoma syndrome (disorder)	Finding site	True	Entire eye proper	Inferred relationship	Existential restriction modifier (core metadata concept)	2
This syndrome is characterised by the association of severe nasal hypoplasia, hypoplasia of the eyes, hyposmia, hypogeusia and hypogonadotropic hypogonadism.	Finding site	True	Entire eye proper	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Anophthalmos	Finding site	True	Entire eye proper	Inferred relationship	Existential restriction modifier (core metadata concept)	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	Existential restriction modifier (core metadata concept)	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	Existential restriction modifier (core metadata concept)	1
Microphthalmia-ankyloblepharon-intellectual disability syndrome is characterised 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 localised to the Xq27-q28 region. The syndrome is transmitted as an X-linked recessive trait.	Finding site	True	Entire eye proper	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Microphthalmia, retinitis pigmentosa, foveoschisis, optic disc drusen syndrome	Finding site	True	Entire eye proper	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome	Finding site	True	Entire eye proper	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Microphthalmos	Finding site	True	Entire eye proper	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Macrophthalmos	Finding site	True	Entire eye proper	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Traumatic enucleation of eye	Finding site	True	Entire eye proper	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Microphthalmos due to Fryns syndrome (disorder)	Finding site	True	Entire eye proper	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Microphthalmos due to Delleman syndrome (disorder)	Finding site	True	Entire eye proper	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Microphthalmos due to branchio-oculo-facial syndrome	Finding site	True	Entire eye proper	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Colobomatous macrophthalmia with microcornea syndrome (disorder)	Finding site	True	Entire eye proper	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Congenital anophthalmos with orbital implant	Finding site	True	Entire eye proper	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Syndromic nanophthalmos due to Kenny-Caffey syndrome (disorder)	Finding site	True	Entire eye proper	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Excision of eye with implant and attachment of muscles	Procedure site - Direct (attribute)	True	Entire eye proper	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Enucleation of eyeball	Procedure site - Direct (attribute)	True	Entire eye proper	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Enucleation of eye without implant	Procedure site - Direct (attribute)	True	Entire eye proper	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Enucleation of eyeball with implant into Tenon's capsule (procedure)	Procedure site - Direct (attribute)	True	Entire eye proper	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Implantation of inert material in Tenon's capsule with enucleation of eyeball (procedure)	Procedure site - Direct (attribute)	True	Entire eye proper	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Enucleation of eyeball with insertion of orbital implant (procedure)	Procedure site - Direct (attribute)	True	Entire eye proper	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness syndrome (disorder)	Finding site	True	Entire eye proper	Inferred relationship	Existential restriction modifier (core metadata concept)	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
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