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19416009: Congenital anomaly of eye (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

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

\Finding of head region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye
\Finding of head region\Globe finding\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye

\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye
\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of eye

\Eye / vision finding\Globe finding\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye
\Eye / vision finding\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\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)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\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)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of eye
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of eye
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of eye
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of eye
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of eye

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
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	Finding site	Structure of nervous system (body structure)	false	Inferred relationship	Some
Congenital anomaly of eye	Associated morphology	kongenital anomali	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
Congenital anomaly of eye	Is a	Disorder of eye proper (disorder)	false	Inferred relationship	Some
Congenital anomaly of eye	Is a	Congenital anomaly of head	false	Inferred relationship	Some
Congenital anomaly of eye	Is a	Congenital disease (disorder)	false	Inferred relationship	Some
Congenital anomaly of eye	Is a	Congenital anomaly of head	true	Inferred relationship	Some
Congenital anomaly of eye	Associated morphology	kongenital anomali	false	Inferred relationship	Some	1
Congenital anomaly of eye	Associated morphology	kongenital anomali	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	utvecklingsabnormitet	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 (disorder)	true	Inferred relationship	Some
Congenital anomaly of eye	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Congenital anomaly of eye	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Congenital anomaly of pupil	Is a	True	Congenital anomaly of eye	Inferred relationship	Some
Congenital cataracts, facial dysmorphism and neuropathy	Is a	True	Congenital anomaly of eye	Inferred relationship	Some
Retinal hemangioblastomatosis	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 fold of posterior segment of eye	Is a	False	Congenital anomaly of eye	Inferred relationship	Some
Monophthalmos	Is a	True	Congenital anomaly of eye	Inferred relationship	Some
Congenital cystic eyeball	Is a	False	Congenital anomaly of eye	Inferred relationship	Some
Anophthalmos	Is a	True	Congenital anomaly of eye	Inferred relationship	Some
Ophthalmo-acromelic syndrome (disorder)	Is a	True	Congenital anomaly of eye	Inferred relationship	Some
Cryptophthalmos syndrome	Is a	True	Congenital anomaly of eye	Inferred relationship	Some
SOX2 anophthalmia syndrome	Is a	True	Congenital anomaly of eye	Inferred relationship	Some
Upper limb defect with eye and ear abnormalities syndrome (disorder)	Is a	True	Congenital anomaly of eye	Inferred relationship	Some
Intractable diarrhea with choanal atresia and eye anomaly syndrome (disorder)	Is a	True	Congenital anomaly of eye	Inferred relationship	Some
Acrorenoocular syndrome (disorder)	Is a	True	Congenital anomaly of eye	Inferred relationship	Some
Deaf blind hypopigmentation syndrome Yemenite type (disorder)	Is a	True	Congenital anomaly of eye	Inferred relationship	Some
Microphthalmia with brain and digit anomaly (disorder)	Is a	True	Congenital anomaly of eye	Inferred relationship	Some
Oculocerebrofacial syndrome Kaufman type (disorder)	Is a	True	Congenital anomaly of eye	Inferred relationship	Some
Matthew Wood syndrome	Is a	True	Congenital anomaly of eye	Inferred relationship	Some
Ectodermal dysplasia with blindness syndrome (disorder)	Is a	True	Congenital anomaly of eye	Inferred relationship	Some
Aplasia cutis congenita with epibulbar dermoid syndrome (disorder)	Is a	False	Congenital anomaly of eye	Inferred relationship	Some
Pierson syndrome (disorder)	Is a	True	Congenital anomaly of eye	Inferred relationship	Some
White forelock with malformations syndrome	Is a	True	Congenital anomaly of eye	Inferred relationship	Some
Oculoauricular syndrome Schorderet type	Is a	True	Congenital anomaly of eye	Inferred relationship	Some
Colobomatous microphthalmia, rhizomelic dysplasia syndrome (disorder)	Is a	True	Congenital anomaly of eye	Inferred relationship	Some
Duane's syndrome	Is a	True	Congenital anomaly of eye	Inferred relationship	Some
RAB18, member RAS oncogene family deficiency (disorder)	Is a	True	Congenital anomaly of eye	Inferred relationship	Some
Anophthalmia plus syndrome (disorder)	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	True	Congenital anomaly of eye	Inferred relationship	Some
Hypoplasia of eye	Is a	True	Congenital anomaly of eye	Inferred relationship	Some
Congenital epibulbar choristoma of bilateral eyes	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

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This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
32707017	Congenital anomaly of eye	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
32710012	Congenital deformity of eye	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
479474017	Congenital abnormality of eye	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
479475016	Congenital anomaly of the globe	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
479476015	Congenital eye anomalies	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
747514015	Congenital anomaly of eye (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3006523012	Congenital malformation of eye	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1437381000052112	medfödd anomali i öga	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)