49381001: Congenital anomaly of retina (disorder)

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

\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\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina
\Head finding (finding)\Finding of head region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\Retinal disorder\Congenital anomaly of retina
\Head finding (finding)\Finding of head region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina
\Head finding (finding)\Finding of head region\Globe finding\Retina finding (finding)\Retinal disorder\Congenital anomaly of retina
\Head finding (finding)\Finding of head region\Globe finding\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina
\Head finding (finding)\Finding of head region\Globe finding\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\Retinal disorder\Congenital anomaly of retina
\Head finding (finding)\Finding of head region\Globe finding\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina
\Head finding (finding)\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina
\Head finding (finding)\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\Retinal disorder\Congenital anomaly of retina
\Head finding (finding)\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina
\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina

\Eye / vision finding\Globe finding\Retina finding (finding)\Retinal disorder\Congenital anomaly of retina
\Eye / vision finding\Globe finding\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina
\Eye / vision finding\Globe finding\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\Retinal disorder\Congenital anomaly of retina
\Eye / vision finding\Globe finding\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina
\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 anomaly of posterior segment of eye\Congenital anomaly of retina
\Eye / vision finding\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\Retinal disorder\Congenital anomaly of retina
\Eye / vision finding\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina
\Eye / vision finding\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina

\Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina
\Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\Retinal disorder\Congenital anomaly of retina
\Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina
\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 anomaly of posterior segment of eye\Congenital anomaly of retina
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\Retinal disorder\Congenital anomaly of retina
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina
\Disease\Disorder of body system\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina
\Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina
\Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\Retinal disorder\Congenital anomaly of retina
\Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina

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

Descriptions:

Id Description Lang Type Status Case? Module

82252017 Congenital anomaly of retina en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

495377011 Congenital malformation of retina en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

787053018 Congenital anomaly of retina (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Congenital anomaly of retina	Is a	Congenital anomaly of posterior segment of eye	true	Inferred relationship	Some
Congenital anomaly of retina	Associated morphology	Congenital anomaly	false	Inferred relationship	Some	1
Congenital anomaly of retina	Finding site	Structure of nervous system (body structure)	false	Inferred relationship	Some
Congenital anomaly of retina	Occurrence	Congenital	false	Inferred relationship	Some
Congenital anomaly of retina	Finding site	Retinal structure	true	Inferred relationship	Some	1
Congenital anomaly of retina	Is a	Retinal disorder	true	Inferred relationship	Some
Congenital anomaly of retina	Finding site	Retinal structure	false	Inferred relationship	Some	1
Congenital anomaly of retina	Associated morphology	Congenital anomaly	false	Inferred relationship	Some	1
Congenital anomaly of retina	Occurrence	Congenital	false	Inferred relationship	Some	2
Congenital anomaly of retina	Associated morphology	Developmental anomaly	false	Inferred relationship	Some	2
Congenital anomaly of retina	Finding site	Retinal structure	false	Inferred relationship	Some	2
Congenital anomaly of retina	Occurrence	Congenital	true	Inferred relationship	Some	1
Congenital anomaly of retina	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Congenital anomaly of retina	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Cilioretinal vessels	Is a	False	Congenital anomaly of retina	Inferred relationship	Some
Opticociliary vessels	Is a	False	Congenital anomaly of retina	Inferred relationship	Some
Fundus coloboma	Is a	False	Congenital anomaly of retina	Inferred relationship	Some
Congenital anomaly of macula	Is a	True	Congenital anomaly of retina	Inferred relationship	Some
Albinotic fundus	Is a	True	Congenital anomaly of retina	Inferred relationship	Some
Congenital anomaly of optic disc	Is a	True	Congenital anomaly of retina	Inferred relationship	Some
Congenital retinal aneurysm	Is a	False	Congenital anomaly of retina	Inferred relationship	Some
Congenital retinoschisis	Is a	False	Congenital anomaly of retina	Inferred relationship	Some
Retinal dysplasia	Is a	True	Congenital anomaly of retina	Inferred relationship	Some
Retinal arteriovenous malformation	Is a	True	Congenital anomaly of retina	Inferred relationship	Some
Congenital retinal fold	Is a	True	Congenital anomaly of retina	Inferred relationship	Some
Other congenital retinal changes	Is a	False	Congenital anomaly of retina	Inferred relationship	Some
Congenital macular changes	Is a	False	Congenital anomaly of retina	Inferred relationship	Some
Posterior segment vascular anomalies	Is a	False	Congenital anomaly of retina	Inferred relationship	Some
Congenital chorioretinal degeneration	Is a	True	Congenital anomaly of retina	Inferred relationship	Some
Sectorial hypoplasia of optic disc	Is a	False	Congenital anomaly of retina	Inferred relationship	Some
Congenital hypertrophy of retinal pigment epithelium	Is a	True	Congenital anomaly of retina	Inferred relationship	Some
Congenital retinoschisis	Is a	True	Congenital anomaly of retina	Inferred relationship	Some
Retinal hemangioblastomatosis	Is a	False	Congenital anomaly of retina	Inferred relationship	Some
Congenital stricture of retinal artery	Is a	True	Congenital anomaly of retina	Inferred relationship	Some
Congenital retinal aneurysm	Is a	True	Congenital anomaly of retina	Inferred relationship	Some
Congenital arteriovenous malformation of retina	Is a	False	Congenital anomaly of retina	Inferred relationship	Some
Oro-facial digital syndrome type 9 (disorder)	Is a	True	Congenital anomaly of retina	Inferred relationship	Some
Coloboma of retina	Is a	True	Congenital anomaly of retina	Inferred relationship	Some
Encephalopathy, intracerebral calcification, retinal degeneration syndrome (disorder)	Is a	True	Congenital anomaly of retina	Inferred relationship	Some
Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome	Is a	False	Congenital anomaly of retina	Inferred relationship	Some
Amaurosis hypertrichosis syndrome (disorder)	Is a	True	Congenital anomaly of retina	Inferred relationship	Some
Oculotrichodysplasia (disorder)	Is a	True	Congenital anomaly of retina	Inferred relationship	Some
Retinal degeneration, nanophthalmos, glaucoma syndrome (disorder)	Is a	True	Congenital anomaly of retina	Inferred relationship	Some
Cholestasis with pigmentary retinopathy and cleft palate syndrome (disorder)	Is a	True	Congenital anomaly of retina	Inferred relationship	Some
Trichomegaly with retina pigmentary degeneration and dwarfism syndrome (disorder)	Is a	True	Congenital anomaly of retina	Inferred relationship	Some
Cleft lip retinopathy syndrome (disorder)	Is a	True	Congenital anomaly of retina	Inferred relationship	Some
Retinitis pigmentosa, hypopituitarism, nephronophthisis, skeletal dysplasia syndrome (disorder)	Is a	True	Congenital anomaly of retina	Inferred relationship	Some
Retinal arterial macroaneurysm with supravalvular pulmonic stenosis	Is a	False	Congenital anomaly of retina	Inferred relationship	Some
Congenital stationary night blindness	Is a	True	Congenital anomaly of retina	Inferred relationship	Some
Saldino-Mainzer dysplasia	Is a	True	Congenital anomaly of retina	Inferred relationship	Some
Achromatopsia	Is a	True	Congenital anomaly of retina	Inferred relationship	Some
Stickler syndrome	Is a	True	Congenital anomaly of retina	Inferred relationship	Some
Blue cone monochromatism (disorder)	Is a	True	Congenital anomaly of retina	Inferred relationship	Some
Retinal racemose hemangioma	Is a	False	Congenital anomaly of retina	Inferred relationship	Some
Congenital anomaly of bilateral retinas (disorder)	Is a	False	Congenital anomaly of retina	Inferred relationship	Some
Atypical Norrie disease due to monosomy Xp11.3 (disorder)	Is a	True	Congenital anomaly of retina	Inferred relationship	Some
Congenital anomaly of retina of left eye (disorder)	Is a	True	Congenital anomaly of retina	Inferred relationship	Some
Congenital anomaly of right retina	Is a	True	Congenital anomaly of retina	Inferred relationship	Some
Myelinated nerve fiber layer of retina	Is a	True	Congenital anomaly of retina	Inferred relationship	Some
Oculocutaneous albinism type 8 (disorder)	Is a	True	Congenital anomaly of retina	Inferred relationship	Some

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
82252017	Congenital anomaly of retina	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
495377011	Congenital malformation of retina	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
787053018	Congenital anomaly of retina (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core