49381001: Congenital anomaly of retina (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\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 of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and retina (disorder)\Retinal disorder\Congenital anomaly of retina
\Head finding (finding)\Finding of head region\Disorder of eye region\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 (finding)\Retina finding (finding)\Retinal disorder\Congenital anomaly of retina
\Head finding (finding)\Finding of head region\Globe finding (finding)\Disorder of eye proper (disorder)\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina
\Head finding (finding)\Finding of head region\Globe finding (finding)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and retina (disorder)\Retinal disorder\Congenital anomaly of retina
\Head finding (finding)\Finding of head region\Globe finding (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 of eye proper (disorder)\Anomaly of eye\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 of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and retina (disorder)\Retinal disorder\Congenital anomaly of retina
\Head finding (finding)\Disorder of head (disorder)\Disorder of eye region\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 (finding)\Retina finding (finding)\Retinal disorder\Congenital anomaly of retina
\Eye / vision finding\Globe finding (finding)\Disorder of eye proper (disorder)\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina
\Eye / vision finding\Globe finding (finding)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and retina (disorder)\Retinal disorder\Congenital anomaly of retina
\Eye / vision finding\Globe finding (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 of eye proper (disorder)\Anomaly of eye\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 of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and retina (disorder)\Retinal disorder\Congenital anomaly of retina
\Eye / vision finding\Visual system disorder\Disorder of eye region\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\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 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\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\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 of eye proper (disorder)\Anomaly of eye\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 of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and retina (disorder)\Retinal disorder\Congenital anomaly of retina
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\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 of eye proper (disorder)\Anomaly of eye\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 of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and retina (disorder)\Retinal disorder\Congenital anomaly of retina
\Disease\Disorder of head (disorder)\Disorder of eye region\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 (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 (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:

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	Existential restriction modifier (core metadata concept)
Congenital anomaly of retina	Associated morphology	anomalie congénitale	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital anomaly of retina	Finding site	Nervous system structure (body structure)	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital anomaly of retina	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital anomaly of retina	Finding site	Retinal structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital anomaly of retina	Is a	Retinal disorder	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital anomaly of retina	Finding site	Retinal structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital anomaly of retina	Associated morphology	anomalie congénitale	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital anomaly of retina	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Congenital anomaly of retina	Associated morphology	anomalie du développement	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Congenital anomaly of retina	Finding site	Retinal structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Congenital anomaly of retina	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital anomaly of retina	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital anomaly of retina	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Cilioretinal vessels	Is a	False	Congenital anomaly of retina	Inferred relationship	Existential restriction modifier (core metadata concept)
Opticociliary vessels	Is a	False	Congenital anomaly of retina	Inferred relationship	Existential restriction modifier (core metadata concept)
Fundus coloboma (disorder)	Is a	False	Congenital anomaly of retina	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital anomaly of macula	Is a	True	Congenital anomaly of retina	Inferred relationship	Existential restriction modifier (core metadata concept)
Albinotic fundus (disorder)	Is a	True	Congenital anomaly of retina	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital anomaly of optic disc	Is a	True	Congenital anomaly of retina	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital retinal aneurysm	Is a	False	Congenital anomaly of retina	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital retinoschisis (disorder)	Is a	False	Congenital anomaly of retina	Inferred relationship	Existential restriction modifier (core metadata concept)
Retinal dysplasia	Is a	True	Congenital anomaly of retina	Inferred relationship	Existential restriction modifier (core metadata concept)
Retinal arteriovenous malformation	Is a	True	Congenital anomaly of retina	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital retinal fold	Is a	True	Congenital anomaly of retina	Inferred relationship	Existential restriction modifier (core metadata concept)
Other congenital retinal changes	Is a	False	Congenital anomaly of retina	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital macular changes	Is a	False	Congenital anomaly of retina	Inferred relationship	Existential restriction modifier (core metadata concept)
Posterior segment vascular anomalies	Is a	False	Congenital anomaly of retina	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital chorioretinal degeneration (disorder)	Is a	True	Congenital anomaly of retina	Inferred relationship	Existential restriction modifier (core metadata concept)
Sectorial hypoplasia of optic disc	Is a	False	Congenital anomaly of retina	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital hypertrophy of retinal pigment epithelium	Is a	True	Congenital anomaly of retina	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital retinoschisis (disorder)	Is a	True	Congenital anomaly of retina	Inferred relationship	Existential restriction modifier (core metadata concept)
Retinal hemangioblastomatosis	Is a	False	Congenital anomaly of retina	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital stricture of retinal artery	Is a	True	Congenital anomaly of retina	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital retinal aneurysm	Is a	True	Congenital anomaly of retina	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital arteriovenous malformation of retina	Is a	False	Congenital anomaly of retina	Inferred relationship	Existential restriction modifier (core metadata concept)
Oro-facial digital syndrome type 9 (disorder)	Is a	True	Congenital anomaly of retina	Inferred relationship	Existential restriction modifier (core metadata concept)
Kolobom der Retina	Is a	True	Congenital anomaly of retina	Inferred relationship	Existential restriction modifier (core metadata concept)
Encephalopathy, intracerebral calcification, retinal degeneration syndrome (disorder)	Is a	True	Congenital anomaly of retina	Inferred relationship	Existential restriction modifier (core metadata concept)
Kleinwuchs, osteochondrodysplastischer - Schwerhörigkeit - Retinitis pigmentosa	Is a	False	Congenital anomaly of retina	Inferred relationship	Existential restriction modifier (core metadata concept)
A rare, syndromic, inherited retinal disorder characterized by cone-rod type congenital amaurosis, severe retinal dystrophy leading to visual impairment and profound photophobia (without night blindness), and trichomegaly (bushy eyebrows with synophrys, excessive facial and body hair including marked circumareolar hypertrichosis). There have been no further descriptions in the literature since 1989.	Is a	True	Congenital anomaly of retina	Inferred relationship	Existential restriction modifier (core metadata concept)
Oculotrichodysplasia	Is a	True	Congenital anomaly of retina	Inferred relationship	Existential restriction modifier (core metadata concept)
Retinal degeneration, nanophthalmos, glaucoma syndrome (disorder)	Is a	True	Congenital anomaly of retina	Inferred relationship	Existential restriction modifier (core metadata concept)
Cholestasis with pigmentary retinopathy and cleft palate syndrome (disorder)	Is a	True	Congenital anomaly of retina	Inferred relationship	Existential restriction modifier (core metadata concept)
Trichomegaly-retina pigmentary degeneration-dwarfism syndrome, also known as Oliver-McFarlane syndrome, is an extremely rare genetic disorder characterized by hair abnormalities, severe chorioretinal atrophy, hypopituitarism, short stature, and intellectual disability.	Is a	True	Congenital anomaly of retina	Inferred relationship	Existential restriction modifier (core metadata concept)
Cleft lip retinopathy syndrome (disorder)	Is a	True	Congenital anomaly of retina	Inferred relationship	Existential restriction modifier (core metadata concept)
Retinitis pigmentosa, hypopituitarism, nephronophthisis, skeletal dysplasia syndrome (disorder)	Is a	True	Congenital anomaly of retina	Inferred relationship	Existential restriction modifier (core metadata concept)
Retinal arterial macroaneurysm with supravalvular pulmonic stenosis	Is a	False	Congenital anomaly of retina	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital stationary night blindness	Is a	True	Congenital anomaly of retina	Inferred relationship	Existential restriction modifier (core metadata concept)
Saldino-Mainzer dysplasia	Is a	True	Congenital anomaly of retina	Inferred relationship	Existential restriction modifier (core metadata concept)
Achromatopsia	Is a	True	Congenital anomaly of retina	Inferred relationship	Existential restriction modifier (core metadata concept)
Stickler syndrome	Is a	True	Congenital anomaly of retina	Inferred relationship	Existential restriction modifier (core metadata concept)
Blue cone monochromatism (disorder)	Is a	True	Congenital anomaly of retina	Inferred relationship	Existential restriction modifier (core metadata concept)
Retinal racemose hemangioma	Is a	False	Congenital anomaly of retina	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital anomaly of bilateral retinas (disorder)	Is a	False	Congenital anomaly of retina	Inferred relationship	Existential restriction modifier (core metadata concept)
Atypical Norrie disease due to monosomy Xp11.3 (disorder)	Is a	True	Congenital anomaly of retina	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital anomaly of left retina	Is a	True	Congenital anomaly of retina	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital anomaly of retina of right eye (disorder)	Is a	True	Congenital anomaly of retina	Inferred relationship	Existential restriction modifier (core metadata concept)
Myelinated nerve fiber layer of retina	Is a	True	Congenital anomaly of retina	Inferred relationship	Existential restriction modifier (core metadata concept)
Oculocutaneous albinism type 8	Is a	True	Congenital anomaly of retina	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
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
82252017	Congenital anomaly of retina	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
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	Only initial character 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	Only initial character 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
530241000274119	Kongenitale Anomalie der Netzhaut	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
644181000274119	Kongenitale Anomalie der Retina	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5980191000241117	anomalie rétinienne congénitale	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5980201000241115	anomalie congénitale de la rétine	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5980191000241117	anomalie rétinienne congénitale	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5980201000241115	anomalie congénitale de la rétine	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
530241000274119	Kongenitale Anomalie der Netzhaut	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
644181000274119	Kongenitale Anomalie der Retina	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module