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:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
øje som helhed	Is a	Visual system subdivision	false	Inferred relationship	Some
øje som helhed	Is a	Entire sensory organ	false	Inferred relationship	Some
øje som helhed	Is a	Eye structure	false	Inferred relationship	Some
øje som helhed	del af	Entire orbital region	false	Additional relationship	Some
øje som helhed	del af	Entire visual system	false	Inferred relationship	Some
øje som helhed	Laterality	Side	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Enucleation of eye without implant	Procedure site	False	øje som helhed	Inferred relationship	Some	1
Excision of eye with implant and attachment of muscles	Procedure site	False	øje som helhed	Inferred relationship	Some	1
Specimen from eye obtained by enucleation (specimen)	Specimen source topography (attribute)	False	øje som helhed	Inferred relationship	Some
Implantation of inert material in Tenon's capsule with enucleation of eyeball (procedure)	Procedure site	False	øje som helhed	Inferred relationship	Some	2
Enucleation of eyeball with implant into Tenon's capsule (procedure)	Procedure site	False	øje som helhed	Inferred relationship	Some	3
Enucleation of eyeball with insertion of orbital implant (procedure)	Procedure site	False	øje som helhed	Inferred relationship	Some	3
Specimen from retina obtained by enucleation of eye (specimen)	Specimen source topography (attribute)	False	øje som helhed	Inferred relationship	Some
Specimen from uvea obtained by enucleation of eye (specimen)	Specimen source topography (attribute)	False	øje som helhed	Inferred relationship	Some
Inferior temporal quadrant of eye proper	del af	False	øje som helhed	Additional relationship	Some
Superior nasal quadrant of eye proper	del af	False	øje som helhed	Additional relationship	Some
Inferior nasal quadrant of eye proper	del af	False	øje som helhed	Additional relationship	Some
Superior temporal quadrant of eye proper	del af	False	øje som helhed	Additional relationship	Some
højre øje som helhed	Is a	False	øje som helhed	Inferred relationship	Some
venstre øje som helhed	Is a	False	øje som helhed	Inferred relationship	Some
Macrophthalmos	Finding site	False	øje som helhed	Inferred relationship	Some	2
Cross syndrome	Finding site	False	øje som helhed	Inferred relationship	Some	4
Dysplasia of eye	Finding site	False	øje som helhed	Inferred relationship	Some	3
Simple microphthalmos	Finding site	False	øje som helhed	Inferred relationship	Some	2
mikroftalmi associeret med andre anomalier i øje OG/ELLER adnexa	Finding site	False	øje som helhed	Inferred relationship	Some	2
Lenz microphthalmia syndrome (disorder)	Finding site	False	øje som helhed	Inferred relationship	Some	2
Microphthalmos	Finding site	False	øje som helhed	Inferred relationship	Some	2
Hypoplasia of eye (disorder)	Finding site	False	øje som helhed	Inferred relationship	Some	2
Lenz microphthalmia syndrome (disorder)	Finding site	False	øje som helhed	Inferred relationship	Some	1
Simple microphthalmos	Finding site	False	øje som helhed	Inferred relationship	Some	1
Dysplasia of eye	Finding site	False	øje som helhed	Inferred relationship	Some	2
Microphthalmos	Finding site	False	øje som helhed	Inferred relationship	Some	1
Cross syndrome	Finding site	False	øje som helhed	Inferred relationship	Some	2
Hypoplasia of eye (disorder)	Finding site	False	øje som helhed	Inferred relationship	Some	1
Hypoplasia of eye (disorder)	Finding site	False	øje som helhed	Inferred relationship	Some	3
mikroftalmi associeret med andre anomalier i øje OG/ELLER adnexa	Finding site	False	øje som helhed	Inferred relationship	Some	1
agenesi af øje	Finding site	False	øje som helhed	Inferred relationship	Some	1
Anophthalmos	Finding site	False	øje som helhed	Inferred relationship	Some	3
Anophthalmos	Finding site	False	øje som helhed	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	øje som helhed	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	øje som helhed	Inferred relationship	Some	4
Oculocerebral dysplasia syndrome	Finding site	False	øje som helhed	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	øje som helhed	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	øje som helhed	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	øje som helhed	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	øje som helhed	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	øje som helhed	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	øje som helhed	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	øje som helhed	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	øje som helhed	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	øje som helhed	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	øje som helhed	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	øje som helhed	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	øje som helhed	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	øje som helhed	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	øje som helhed	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	øje som helhed	Inferred relationship	Some	2
A rare syndromic microphthalmia disorder with characteristics of 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	øje som helhed	Inferred relationship	Some	3
Anophthalmos	Finding site	False	øje som helhed	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	øje som helhed	Inferred relationship	Some	1
Macrophthalmos	Finding site	False	øje som helhed	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	øje som helhed	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	øje som helhed	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	øje som helhed	Inferred relationship	Some	1
A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of 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	øje som helhed	Inferred relationship	Some	1
A rare genetic orofacial clefting malformation syndrome with characteristics of 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. There is evidence the disease is caused by homozygous mutation in the ALX1 gene on chromosome 12q21.	Finding site	False	øje som helhed	Inferred relationship	Some	3
A rare genetic non-syndromic developmental defect of the eye disorder with the association of posterior microphthalmia, retinal dystrophy compatible with retinitis pigmentosa, localised 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. Caused by homozygous or compound heterozygous mutation in the MFRP gene on chromosome 11q23.	Finding site	False	øje som helhed	Inferred relationship	Some	2
Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome	Finding site	False	øje som helhed	Inferred relationship	Some	2
Congenital cystic eyeball	Finding site	False	øje som helhed	Inferred relationship	Some	2
Traumatic enucleation of eye	Finding site	False	øje som helhed	Inferred relationship	Some	2
Microphthalmos due to branchio-oculo-facial syndrome	Finding site	False	øje som helhed	Inferred relationship	Some	1
Microphthalmos due to Fryns syndrome (disorder)	Finding site	False	øje som helhed	Inferred relationship	Some	1
Microphthalmos due to Delleman syndrome (disorder)	Finding site	False	øje som helhed	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	øje som helhed	Inferred relationship	Some	4
Congenital anophthalmos with orbital implant	Finding site	False	øje som helhed	Inferred relationship	Some	1
Syndromic nanophthalmos due to Kenny-Caffey syndrome	Finding site	False	øje som helhed	Inferred relationship	Some	1

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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
3863561000005118	øje som helhed	da	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Danish module (core metadata concept)