19416009: Congenital anomaly of eye (disorder)

SNOMED CT Concept\Clinical finding\...

\Finding of head and neck region\Head finding\...

\Finding of head region\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye
\Finding of head region\Globe finding\Disorder of eye\Anomaly of eye\Congenital anomaly of eye

\Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye
\Disorder of head\Congenital anomaly of head\Congenital anomaly of eye

\Eye / vision finding\Globe finding\Disorder of eye\Anomaly of eye\Congenital anomaly of eye
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye
\Eye / vision finding\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of eye

\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye
\Disease\Disorder of body system\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of eye
\Disease\Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of eye
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of visual system\Congenital anomaly of eye
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of eye
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of visual system\Congenital anomaly of eye
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of eye

Status: current, Defined. Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3006523012 Congenital malformation of eye en Synonym Active Case insensitive SNOMED CT core

32707017 Congenital anomaly of eye en Synonym Active Case insensitive SNOMED CT core

32710012 Congenital deformity of eye en Synonym Active Case insensitive SNOMED CT core

479474017 Congenital abnormality of eye en Synonym Active Case insensitive SNOMED CT core

479475016 Congenital anomaly of the globe en Synonym Active Case insensitive SNOMED CT core

479476015 Congenital eye anomalies en Synonym Active Case insensitive SNOMED CT core

747514015 Congenital anomaly of eye (disorder) en Fully specified name Active Case insensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Congenital anomaly of eye	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Congenital anomaly of eye	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	1
Congenital anomaly of eye	Is a	Disorder of eye	false	Inferred relationship	Some
Congenital anomaly of eye	Is a	Congenital anomaly of head	false	Inferred relationship	Some
Congenital anomaly of eye	Is a	Disease of eye	false	Inferred relationship	Some
Congenital anomaly of eye	Is a	Congenital anomaly of visual system	false	Inferred relationship	Some
Congenital anomaly of eye	Is a	Congenital anomaly of orbit	false	Inferred relationship	Some
Congenital anomaly of eye	Is a	Congenital disease	false	Inferred relationship	Some
Congenital anomaly of eye	Is a	Congenital anomaly of head	true	Inferred relationship	Some
Congenital anomaly of eye	Associated morphology	Congenital anomaly	false	Inferred relationship	Some	1
Congenital anomaly of eye	Associated morphology	Congenital anomaly	false	Inferred relationship	Some	1
Congenital anomaly of eye	Finding site	Eye structure	false	Inferred relationship	Some	1
Congenital anomaly of eye	Occurrence	Congenital	false	Inferred relationship	Some	2
Congenital anomaly of eye	Associated morphology	Developmental abnormality	false	Inferred relationship	Some	2
Congenital anomaly of eye	Finding site	Eye structure	false	Inferred relationship	Some	2
Congenital anomaly of eye	Is a	Congenital anomaly of visual system	true	Inferred relationship	Some
Congenital anomaly of eye	Occurrence	Congenital	true	Inferred relationship	Some	1
Congenital anomaly of eye	Finding site	Eye structure	true	Inferred relationship	Some	1
Congenital anomaly of eye	Is a	Anomaly of eye	true	Inferred relationship	Some
Congenital anomaly of eye	Finding site	Structure of nervous system	false	Inferred relationship	Some
Congenital anomaly of eye	Associated morphology	Congenital anomaly	false	Inferred relationship	Some	1
Congenital anomaly of eye	Finding site	Eye structure	false	Inferred relationship	Some	1
Congenital anomaly of eye	Occurrence	Congenital	false	Inferred relationship	Some
Congenital anomaly of eye	Finding site	Orbital region structure	false	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
RAB18, member RAS oncogene family deficiency	Is a	True	Congenital anomaly of eye	Inferred relationship	Some
Anophthalmia plus syndrome	Is a	True	Congenital anomaly of eye	Inferred relationship	Some
Muscle eye brain disease with bilateral multicystic leukodystrophy	Is a	True	Congenital anomaly of eye	Inferred relationship	Some
Lowe syndrome	Is a	False	Congenital anomaly of eye	Inferred relationship	Some
Congenital abnormality of iris and ciliary body	Is a	False	Congenital anomaly of eye	Inferred relationship	Some
Hypoplasia of eye	Is a	True	Congenital anomaly of eye	Inferred relationship	Some
Bilateral congenital epibulbar choristoma	Is a	True	Congenital anomaly of eye	Inferred relationship	Some
Glaucoma due to congenital anomaly of eye	Due to	True	Congenital anomaly of eye	Inferred relationship	Some	2
Epibulbar lipodermoid, preauricular appendage, polythelia syndrome	Is a	True	Congenital anomaly of eye	Inferred relationship	Some
Congenital anomaly of cornea	Is a	False	Congenital anomaly of eye	Inferred relationship	Some
Congenital anomaly of lens	Is a	False	Congenital anomaly of eye	Inferred relationship	Some
Congenital anomaly of posterior segment of eye	Is a	True	Congenital anomaly of eye	Inferred relationship	Some
Hutchinson's triad	Is a	False	Congenital anomaly of eye	Inferred relationship	Some
Partial hypoplasia of optic disc	Is a	False	Congenital anomaly of eye	Inferred relationship	Some
Sectorial hypoplasia of optic disc	Is a	False	Congenital anomaly of eye	Inferred relationship	Some
Congenital anomaly of lacrimal system	Is a	False	Congenital anomaly of eye	Inferred relationship	Some
Retinal dystrophy in systemic lipidosis	Is a	False	Congenital anomaly of eye	Inferred relationship	Some
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts	Is a	False	Congenital anomaly of eye	Inferred relationship	Some
Phytanic acid storage disease	Is a	False	Congenital anomaly of eye	Inferred relationship	Some
Kearns-Sayre syndrome	Is a	False	Congenital anomaly of eye	Inferred relationship	Some
Buphthalmos	Is a	False	Congenital anomaly of eye	Inferred relationship	Some
Weill-Marchesani syndrome	Is a	False	Congenital anomaly of eye	Inferred relationship	Some
Corneal fragility keratoglobus, blue sclerae AND joint hypermobility	Is a	False	Congenital anomaly of eye	Inferred relationship	Some
Osteogenesis imperfecta with blue sclerae	Is a	False	Congenital anomaly of eye	Inferred relationship	Some
Gyrate atrophy of the choroid and retina	Is a	False	Congenital anomaly of eye	Inferred relationship	Some
Gouty iritis	Is a	False	Congenital anomaly of eye	Inferred relationship	Some
Congenital melanosis of sclera	Is a	False	Congenital anomaly of eye	Inferred relationship	Some
Globe of eye vestigial	Is a	False	Congenital anomaly of eye	Inferred relationship	Some
Alstrom syndrome	Is a	False	Congenital anomaly of eye	Inferred relationship	Some
Oculocutaneous albinism	Is a	False	Congenital anomaly of eye	Inferred relationship	Some
Cerebral-retinal arteriovenous aneurysm	Is a	False	Congenital anomaly of eye	Inferred relationship	Some
Septo-optic dysplasia sequence	Is a	False	Congenital anomaly of eye	Inferred relationship	Some
Stickler syndrome	Is a	False	Congenital anomaly of eye	Inferred relationship	Some
Congenital conjunctival cyst	Is a	False	Congenital anomaly of eye	Inferred relationship	Some
Congenital anomaly of third eyelid	Is a	False	Congenital anomaly of eye	Inferred relationship	Some
Late congenital syphilitic oculopathy	Is a	False	Congenital anomaly of eye	Inferred relationship	Some
Retinal dystrophy in cerebroretinal lipidosis	Is a	False	Congenital anomaly of eye	Inferred relationship	Some
Atrophia bulborum hereditaria	Is a	False	Congenital anomaly of eye	Inferred relationship	Some
Hypoplasia of optic disc	Is a	False	Congenital anomaly of eye	Inferred relationship	Some
Retinal haemangioblastomatosis	Is a	False	Congenital anomaly of eye	Inferred relationship	Some
Ocular albinism	Is a	False	Congenital anomaly of eye	Inferred relationship	Some
Leber congenital amaurosis	Is a	False	Congenital anomaly of eye	Inferred relationship	Some
Congenital vascular anomaly of eye	Is a	False	Congenital anomaly of eye	Inferred relationship	Some
Congenital nystagmus	Is a	False	Congenital anomaly of eye	Inferred relationship	Some
Congenital anomaly of sclera	Is a	False	Congenital anomaly of eye	Inferred relationship	Some
Congenital glaucoma	Is a	False	Congenital anomaly of eye	Inferred relationship	Some
Congenital ectopic pupil	Is a	False	Congenital anomaly of eye	Inferred relationship	Some
Persistent tunica vasculosa lentis	Is a	False	Congenital anomaly of eye	Inferred relationship	Some
Osteogenesis imperfecta with blue sclerae AND dentinogenesis imperfecta	Is a	False	Congenital anomaly of eye	Inferred relationship	Some
Osteogenesis imperfecta with blue sclerae AND normal teeth	Is a	False	Congenital anomaly of eye	Inferred relationship	Some
Persistent pupillary membranes	Is a	False	Congenital anomaly of eye	Inferred relationship	Some
Congenital anomaly of anterior chamber of eye	Is a	False	Congenital anomaly of eye	Inferred relationship	Some
Ankyloblepharon	Is a	False	Congenital anomaly of eye	Inferred relationship	Some
Oculocutaneous melanocytic naevus	Is a	False	Congenital anomaly of eye	Inferred relationship	Some
Ocular melanosis	Is a	True	Congenital anomaly of eye	Inferred relationship	Some
Congenital mydriasis	Is a	False	Congenital anomaly of eye	Inferred relationship	Some
Congenital cystic eyeball	Is a	False	Congenital anomaly of eye	Inferred relationship	Some
Microphthalmos	Is a	True	Congenital anomaly of eye	Inferred relationship	Some
Congenital oculocutaneous hypopigmentation	Is a	True	Congenital anomaly of eye	Inferred relationship	Some
Congenital cyst of posterior segment of eye	Is a	False	Congenital anomaly of eye	Inferred relationship	Some
Congenital stationary night blindness	Is a	False	Congenital anomaly of eye	Inferred relationship	Some
Congenital axial myopia	Is a	False	Congenital anomaly of eye	Inferred relationship	Some
Congenital colour blindness	Is a	False	Congenital anomaly of eye	Inferred relationship	Some
Partial hypoplasia of optic disc	Is a	False	Congenital anomaly of eye	Inferred relationship	Some
Irido-corneal dysgenesis	Is a	False	Congenital anomaly of eye	Inferred relationship	Some
Congenital anomaly of cornea	Is a	False	Congenital anomaly of eye	Inferred relationship	Some
Congenital anomaly of lens	Is a	False	Congenital anomaly of eye	Inferred relationship	Some
Congenital anomaly of iris	Is a	False	Congenital anomaly of eye	Inferred relationship	Some
Albinism	Is a	False	Congenital anomaly of eye	Inferred relationship	Some
Congenital anomaly of sclera	Is a	True	Congenital anomaly of eye	Inferred relationship	Some
Congenital anisocoria	Is a	False	Congenital anomaly of eye	Inferred relationship	Some
Coloboma of eye	Is a	True	Congenital anomaly of eye	Inferred relationship	Some
Acquired cartilage anomaly of third eyelid	Is a	False	Congenital anomaly of eye	Inferred relationship	Some
Ectopic pupil	Is a	False	Congenital anomaly of eye	Inferred relationship	Some
Anophthalmos	Is a	False	Congenital anomaly of eye	Inferred relationship	Some
Ocular albinism	Is a	True	Congenital anomaly of eye	Inferred relationship	Some
Irido-corneo-trabecular dysgenesis	Is a	False	Congenital anomaly of eye	Inferred relationship	Some
Oculocutaneous albinism	Is a	False	Congenital anomaly of eye	Inferred relationship	Some
Glaucoma and corneal anomaly	Associated with	True	Congenital anomaly of eye	Inferred relationship	Some	1
Glaucoma associated with iridocorneal endothelial syndrome	Associated with	False	Congenital anomaly of eye	Inferred relationship	Some	4
Glaucoma associated with anterior segment anomaly	Associated with	True	Congenital anomaly of eye	Inferred relationship	Some	1
Congenital ectopic pupil	Is a	False	Congenital anomaly of eye	Inferred relationship	Some
Congenital anisocoria	Is a	False	Congenital anomaly of eye	Inferred relationship	Some
Osteogenesis imperfecta with blue sclerae AND dentinogenesis imperfecta	Is a	False	Congenital anomaly of eye	Inferred relationship	Some
Osteogenesis imperfecta with blue sclerae AND normal teeth	Is a	False	Congenital anomaly of eye	Inferred relationship	Some
Macrophthalmos	Is a	True	Congenital anomaly of eye	Inferred relationship	Some
Congenital malposition of eye	Is a	True	Congenital anomaly of eye	Inferred relationship	Some
Coloboma of eye	Is a	False	Congenital anomaly of eye	Inferred relationship	Some
Congenital blindness	Is a	False	Congenital anomaly of eye	Inferred relationship	Some
Congenital anomaly of anterior segment of eye	Is a	True	Congenital anomaly of eye	Inferred relationship	Some
Congenital eye disorder screening	Has focus	True	Congenital anomaly of eye	Inferred relationship	Some	2
Agenesis of eye	Is a	False	Congenital anomaly of eye	Inferred relationship	Some
Anterior chamber anomalies	Is a	False	Congenital anomaly of eye	Inferred relationship	Some
Multiple anterior segment anomalies	Is a	False	Congenital anomaly of eye	Inferred relationship	Some
Congenital anomalies of eyelid, lacrimal system and orbit	Is a	False	Congenital anomaly of eye	Inferred relationship	Some
Congenital orbit anomalies	Is a	False	Congenital anomaly of eye	Inferred relationship	Some
Multiple supernumerary eye muscles	Is a	False	Congenital anomaly of eye	Inferred relationship	Some
Hypoplasia of eye muscle	Is a	False	Congenital anomaly of eye	Inferred relationship	Some
Other specified anterior segment anomalies	Is a	False	Congenital anomaly of eye	Inferred relationship	Some
Other specified eye anomalies	Is a	False	Congenital anomaly of eye	Inferred relationship	Some
Other eye anomalies NOS	Is a	False	Congenital anomaly of eye	Inferred relationship	Some

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Reference Sets

Emergency department reference set

Australian emergency department reference set

NSW Emergency Department reference set

Clinical finding foundation reference set

Emergency department diagnosis reference set

Problem/Diagnosis reference set

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Id	Description	Lang	Type	Status	Case?	Module
3006523012	Congenital malformation of eye	en	Synonym	Active	Case insensitive	SNOMED CT core
32707017	Congenital anomaly of eye	en	Synonym	Active	Case insensitive	SNOMED CT core
32710012	Congenital deformity of eye	en	Synonym	Active	Case insensitive	SNOMED CT core
479474017	Congenital abnormality of eye	en	Synonym	Active	Case insensitive	SNOMED CT core
479475016	Congenital anomaly of the globe	en	Synonym	Active	Case insensitive	SNOMED CT core
479476015	Congenital eye anomalies	en	Synonym	Active	Case insensitive	SNOMED CT core
747514015	Congenital anomaly of eye (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core