93390002: Congenital ocular coloboma (disorder)

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

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

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

\Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Anomaly of eye\Lesion of eye (disorder)\Congenital ocular coloboma
\Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Anomaly of eye\Congenital anomaly of eye\Congenital ocular coloboma
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital ocular coloboma
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of eye\Congenital ocular coloboma
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye proper (disorder)\Anomaly of eye\Lesion of eye (disorder)\Congenital ocular coloboma
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye proper (disorder)\Anomaly of eye\Congenital anomaly of eye\Congenital ocular coloboma
\Disease\Disorder of body system\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital ocular coloboma
\Disease\Disorder of head (disorder)\Disorder of eye region\Disorder of eye proper (disorder)\Anomaly of eye\Lesion of eye (disorder)\Congenital ocular coloboma
\Disease\Disorder of head (disorder)\Disorder of eye region\Disorder of eye proper (disorder)\Anomaly of eye\Congenital anomaly of eye\Congenital ocular coloboma
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of eye\Congenital ocular coloboma
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital ocular coloboma
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of eye\Congenital ocular coloboma

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	Is a	Coloboma of eye	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital ocular coloboma	Is a	Congenital anomaly of eye	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital ocular coloboma	Associated morphology	Defect	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Congenital ocular coloboma	Finding site	Orbital region structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital ocular coloboma	Finding site	Eyeball segment structure (body structure)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Congenital ocular coloboma	Associated morphology	Congenital failure of fusion	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital ocular coloboma	Finding site	Nervous system structure (body structure)	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital ocular coloboma	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital ocular coloboma	Associated morphology	anomalie congénitale	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital ocular coloboma	Finding site	Eye structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital ocular coloboma	Is a	Congenital anomaly of eye	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital ocular coloboma	Is a	Congenital malformation	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital ocular coloboma	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital ocular coloboma	Finding site	Eye structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital ocular coloboma	Finding site	Eye structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Congenital ocular coloboma	Finding site	Eye structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Congenital ocular coloboma	Finding site	Eye structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital ocular coloboma	Finding site	Eye structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital ocular coloboma	Finding site	Eye structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Congenital ocular coloboma	Finding site	Eye structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital ocular coloboma	Finding site	Eye structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Congenital ocular coloboma	Finding site	Eye structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital ocular coloboma	Finding site	Eye structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Congenital ocular coloboma	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Congenital ocular coloboma	Associated morphology	Congenital failure of fusion	false	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Congenital ocular coloboma	Finding site	Eye structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Congenital ocular coloboma	Associated morphology	Developmental failure of fusion (morphologic abnormality)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital ocular coloboma	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital ocular coloboma	Is a	Lesion of eye (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital ocular coloboma	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Congenital coloboma of optic disc	Is a	False	Congenital ocular coloboma	Inferred relationship	Existential restriction modifier (core metadata concept)
Coloboma of lens	Is a	True	Congenital ocular coloboma	Inferred relationship	Existential restriction modifier (core metadata concept)
Coloboma of choroid (disorder)	Is a	True	Congenital ocular coloboma	Inferred relationship	Existential restriction modifier (core metadata concept)
Coloboma of iris	Is a	False	Congenital ocular coloboma	Inferred relationship	Existential restriction modifier (core metadata concept)
Colobomatous microphthalmia is a developmental disorder of the eye characterized by unilateral or bilateral microphthalmia associated with ocular coloboma.	Is a	True	Congenital ocular coloboma	Inferred relationship	Existential restriction modifier (core metadata concept)
Abruzzo Erickson syndrome	Is a	True	Congenital ocular coloboma	Inferred relationship	Existential restriction modifier (core metadata concept)
A very rare congenital genetic neurological disorder characterised by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities.	Is a	True	Congenital ocular coloboma	Inferred relationship	Existential restriction modifier (core metadata concept)
CHIME syndrome is a rare ectodermal dysplasia syndrome characterised by ocular colobomas, cardiac defects, ichthyosiform dermatosis, intellectual disability, conductive hearing loss and epilepsy.	Is a	True	Congenital ocular coloboma	Inferred relationship	Existential restriction modifier (core metadata concept)
Coloboma of macula with brachydactyly type B syndrome (disorder)	Is a	False	Congenital ocular coloboma	Inferred relationship	Existential restriction modifier (core metadata concept)
Macular coloboma-cleft palate-hallux valgus syndrome is characterised by the association of bilateral macular coloboma, cleft palate, and hallux valgus. It has been described in a brother and sister. Pelvic, limb and digital anomalies were also reported. Transmission is autosomal recessive.	Is a	False	Congenital ocular coloboma	Inferred relationship	Existential restriction modifier (core metadata concept)
Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome (disorder)	Is a	True	Congenital ocular coloboma	Inferred relationship	Existential restriction modifier (core metadata concept)
colobome congénital de l'iris	Is a	True	Congenital ocular coloboma	Inferred relationship	Existential restriction modifier (core metadata concept)
Preaxial polydactyly, colobomata, intellectual disability syndrome	Is a	True	Congenital ocular coloboma	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital chorioretinal coloboma of right eye (disorder)	Is a	False	Congenital ocular coloboma	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital chorioretinal coloboma of left eye (disorder)	Is a	False	Congenital ocular coloboma	Inferred relationship	Existential restriction modifier (core metadata concept)
Fundus coloboma (disorder)	Is a	False	Congenital ocular coloboma	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital coloboma of macula lutea (disorder)	Is a	False	Congenital ocular coloboma	Inferred relationship	Existential restriction modifier (core metadata concept)
Renal coloboma syndrome (disorder)	Is a	True	Congenital ocular coloboma	Inferred relationship	Existential restriction modifier (core metadata concept)
Kolobom der Retina	Is a	True	Congenital ocular coloboma	Inferred relationship	Existential restriction modifier (core metadata concept)
X-linked cerebral, cerebellar, coloboma syndrome (disorder)	Is a	True	Congenital ocular coloboma	Inferred relationship	Existential restriction modifier (core metadata concept)
Colobomatous cyst of orbit	Is a	True	Congenital ocular coloboma	Inferred relationship	Existential restriction modifier (core metadata concept)

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
154575016	Congenital ocular coloboma	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
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	Only initial character 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	Only initial character 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	Only initial character case insensitive (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	Only initial character 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
510221000274119	Kolobom des Auges	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
625681000274113	Kongenitales okuläres Kolobom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
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
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
510221000274119	Kolobom des Auges	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
625681000274113	Kongenitales okuläres Kolobom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module