93390002: Congenital ocular coloboma (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)\Lesion of eye (disorder)\Congenital ocular coloboma (disorder)
\Finding of head region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital ocular coloboma (disorder)
\Finding of head region\Globe finding\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Lesion of eye (disorder)\Congenital ocular coloboma (disorder)
\Finding of head region\Globe finding\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital ocular coloboma (disorder)

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

\Eye / vision finding\Globe finding\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Lesion of eye (disorder)\Congenital ocular coloboma (disorder)
\Eye / vision finding\Globe finding\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital ocular coloboma (disorder)
\Eye / vision finding\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Lesion of eye (disorder)\Congenital ocular coloboma (disorder)
\Eye / vision finding\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital ocular coloboma (disorder)
\Eye / vision finding\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital ocular coloboma (disorder)

\Disease\Disorder of body system\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Lesion of eye (disorder)\Congenital ocular coloboma (disorder)
\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\Congenital ocular coloboma (disorder)
\Disease\Disorder of body system\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital ocular coloboma (disorder)
\Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Lesion of eye (disorder)\Congenital ocular coloboma (disorder)
\Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital ocular coloboma (disorder)
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of eye\Congenital ocular coloboma (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital ocular coloboma (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of eye\Congenital ocular coloboma (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital ocular coloboma (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of eye\Congenital ocular coloboma (disorder)

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2005. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Congenital ocular coloboma (disorder)	Is a	Coloboma of eye	false	Inferred relationship	Some
Congenital ocular coloboma (disorder)	Is a	Congenital anomaly of eye	false	Inferred relationship	Some
Congenital ocular coloboma (disorder)	Associated morphology	Defect	false	Inferred relationship	Some	2
Congenital ocular coloboma (disorder)	Finding site	Orbital region structure	false	Inferred relationship	Some	1
Congenital ocular coloboma (disorder)	Finding site	Eyeball segment structure	false	Inferred relationship	Some	2
Congenital ocular coloboma (disorder)	Associated morphology	Congenital failure of fusion	false	Inferred relationship	Some	1
Congenital ocular coloboma (disorder)	Finding site	Structure of nervous system (body structure)	false	Inferred relationship	Some
Congenital ocular coloboma (disorder)	Occurrence	Congenital	false	Inferred relationship	Some
Congenital ocular coloboma (disorder)	Associated morphology	anomalie congénitale	false	Inferred relationship	Some	1
Congenital ocular coloboma (disorder)	Finding site	Eye structure	false	Inferred relationship	Some	1
Congenital ocular coloboma (disorder)	Is a	Congenital anomaly of eye	true	Inferred relationship	Some
Congenital ocular coloboma (disorder)	Is a	Congenital malformation	false	Inferred relationship	Some
Congenital ocular coloboma (disorder)	Occurrence	Congenital	false	Inferred relationship	Some
Congenital ocular coloboma (disorder)	Finding site	Eye structure	false	Inferred relationship	Some	1
Congenital ocular coloboma (disorder)	Finding site	Eye structure	false	Inferred relationship	Some	2
Congenital ocular coloboma (disorder)	Finding site	Eye structure	false	Inferred relationship	Some	2
Congenital ocular coloboma (disorder)	Finding site	Eye structure	false	Inferred relationship	Some	1
Congenital ocular coloboma (disorder)	Finding site	Eye structure	false	Inferred relationship	Some	1
Congenital ocular coloboma (disorder)	Finding site	Eye structure	false	Inferred relationship	Some	2
Congenital ocular coloboma (disorder)	Finding site	Eye structure	false	Inferred relationship	Some	1
Congenital ocular coloboma (disorder)	Finding site	Eye structure	false	Inferred relationship	Some	2
Congenital ocular coloboma (disorder)	Finding site	Eye structure	true	Inferred relationship	Some	1
Congenital ocular coloboma (disorder)	Finding site	Eye structure	false	Inferred relationship	Some	2
Congenital ocular coloboma (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	3
Congenital ocular coloboma (disorder)	Associated morphology	Congenital failure of fusion	false	Inferred relationship	Some	3
Congenital ocular coloboma (disorder)	Finding site	Eye structure	false	Inferred relationship	Some	3
Congenital ocular coloboma (disorder)	Associated morphology	Developmental failure of fusion (morphologic abnormality)	true	Inferred relationship	Some	1
Congenital ocular coloboma (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Congenital ocular coloboma (disorder)	Is a	Lesion of eye (disorder)	true	Inferred relationship	Some
Congenital ocular coloboma (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Congenital coloboma of optic disc	Is a	False	Congenital ocular coloboma (disorder)	Inferred relationship	Some
Coloboma of lens	Is a	True	Congenital ocular coloboma (disorder)	Inferred relationship	Some
Coloboma of choroid	Is a	True	Congenital ocular coloboma (disorder)	Inferred relationship	Some
Coloboma of iris	Is a	False	Congenital ocular coloboma (disorder)	Inferred relationship	Some
Microphthalmos co-occurrent with congenital ocular coloboma (disorder)	Is a	True	Congenital ocular coloboma (disorder)	Inferred relationship	Some
Abruzzo Erickson syndrome	Is a	True	Congenital ocular coloboma (disorder)	Inferred relationship	Some
Temtamy syndrome	Is a	True	Congenital ocular coloboma (disorder)	Inferred relationship	Some
Coloboma, congenital heart disease, ichthyosiform dermatosis, intellectual disability ear anomaly syndrome (disorder)	Is a	True	Congenital ocular coloboma (disorder)	Inferred relationship	Some
Coloboma of macula with brachydactyly type B syndrome (disorder)	Is a	False	Congenital ocular coloboma (disorder)	Inferred relationship	Some
Macular coloboma, cleft palate, hallux valgus syndrome (disorder)	Is a	False	Congenital ocular coloboma (disorder)	Inferred relationship	Some
Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome	Is a	True	Congenital ocular coloboma (disorder)	Inferred relationship	Some
Congenital coloboma of iris	Is a	True	Congenital ocular coloboma (disorder)	Inferred relationship	Some
Preaxial polydactyly, colobomata, intellectual disability syndrome (disorder)	Is a	True	Congenital ocular coloboma (disorder)	Inferred relationship	Some
Congenital chorioretinal coloboma of right eye (disorder)	Is a	False	Congenital ocular coloboma (disorder)	Inferred relationship	Some
Congenital chorioretinal coloboma of left eye (disorder)	Is a	False	Congenital ocular coloboma (disorder)	Inferred relationship	Some
Fundus coloboma	Is a	False	Congenital ocular coloboma (disorder)	Inferred relationship	Some
Congenital coloboma of macula lutea	Is a	False	Congenital ocular coloboma (disorder)	Inferred relationship	Some
Renal coloboma syndrome (disorder)	Is a	True	Congenital ocular coloboma (disorder)	Inferred relationship	Some
Coloboma of retina	Is a	True	Congenital ocular coloboma (disorder)	Inferred relationship	Some
X-linked cerebral, cerebellar, coloboma syndrome (disorder)	Is a	True	Congenital ocular coloboma (disorder)	Inferred relationship	Some
Congenital colobomatous cyst of orbit (disorder)	Is a	True	Congenital ocular coloboma (disorder)	Inferred relationship	Some

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
154575016	Congenital ocular coloboma	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
837113018	Congenital ocular coloboma (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3314159019	Coloboma of eye	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3314160012	COI - Coloboma of iris, choroid and retina	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3314161011	Coloboma of iris, choroid and retina	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3314162016	Ocular coloboma	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4710971000241115	colobome congénital de l'oeil	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module