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)\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 (disorder)\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)\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 (disorder)\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)\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 (disorder)\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)\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 (disorder)\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina
\Eye / vision finding\Visual system disorder (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)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye (disorder)\Disorder of vitreous body and/or retina (disorder)\Retinal disorder\Congenital anomaly of retina
\Eye / vision finding\Visual system disorder (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye (disorder)\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina
\Eye / vision finding\Visual system disorder (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)\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 (disorder)\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina
\Disease\Fetal and/or neonatal disorder\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\Fetal and/or neonatal disorder\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)\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)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye (disorder)\Disorder of vitreous body and/or retina (disorder)\Retinal disorder\Congenital anomaly of retina
\Disease\Disorder of body system\Visual system disorder (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye (disorder)\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina
\Disease\Disorder of body system\Visual system disorder (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)\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 (disorder)\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:

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	anomalie congénitale	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	anomalie congénitale	false	Inferred relationship	Some	1
Congenital anomaly of retina	Occurrence	Congenital	false	Inferred relationship	Some	2
Congenital anomaly of retina	Associated morphology	anomalie du développement	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	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 (disorder)	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 (disorder)	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
Oral-facial-digital syndrome, type 9 is characterized by highly arched palate with bifid tongue and bilateral supernumerary lower canines, hamartomatous tongue, multiple frenula, hypertelorism, telecanthus, strabismus, broad and/or bifid nasal tip, short stature, bifid halluces, forked metatarsal, poly- and syndactyly, mild intellectual deficit and specific retinal abnormalities (bilateral optic disc coloboma and retinal dysplasia with partial detachment).	Is a	True	Congenital anomaly of retina	Inferred relationship	Some
Coloboma of retina	Is a	True	Congenital anomaly of retina	Inferred relationship	Some
Bonnemann-Meinecke-Reich syndrome is a syndrome of multiple congenital anomalies characterized by an encephalopathy which predominantly occurs in the first year of life and presenting as psychomotor delay. Additional features of the disease include moderate dysmorphia, craniosynostosis, dwarfism (due to growth hormone deficiency), intellectual disability, spasticity, ataxia, retinal degeneration, and adrenal and uterine hypoplasia. The disease has been described in only two families, with each family having two affected siblings. An autosomal recessive inheritance has been suggested. There have been no further descriptions in the literature since 1991.	Is a	True	Congenital anomaly of retina	Inferred relationship	Some
syndrome de nanisme ostéochondrodysplasique-surdité-rétinopathie pigmentaire	Is a	False	Congenital anomaly of retina	Inferred relationship	Some
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	Some
A rare ectodermal dysplasia syndrome characterized by bilateral retinitis pigmentosa, trichodysplasia (generalized hypotrichosis, structural changes), dental anomalies, onychodysplasia, and dry and scaly skin. There have been no further descriptions in the literature since 1988.	Is a	True	Congenital anomaly of retina	Inferred relationship	Some
Retinal degeneration-nanophthalmos-glaucoma syndrome is characterized by progressive pigmentary retinal degeneration (with nyctalopia and visual field restriction), cystic macular degeneration and angle closure glaucoma. It has been described in seven members of one family. Patients also have hyperopia and nanophthalmos. The mode of transmission is autosomal recessive.	Is a	True	Congenital anomaly of retina	Inferred relationship	Some
A rare multiple congenital malformation syndrome, characterized by an association of cleft lip and palate, patchy pigmentary retinopathy (cat's paw), obstructive liver disease (cholestasis, portal hypertension etc.) and obstructive renal disease (ectopic ureteric insertion, obstruction, vesicoureteral reflux and hydronephrosis). Gastrointestinal tract involvement (malrotation, gastroesophageal reflux etc.) and cardiac involvement (coarctation of aorta, pulmonary artery stenosis, etc.) have also been reported. An overlap with Kabuki syndrome is debated.	Is a	True	Congenital anomaly of retina	Inferred relationship	Some
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	Some
An exceedingly rare association characterized by cleft lip and progressive retinopathy.	Is a	True	Congenital anomaly of retina	Inferred relationship	Some
A rare genetic, syndromic retinal disorder characterized by the association of retinitis pigmentosa, hypopituitarism, nephronophthisis, and skeletal dysplasia.	Is a	True	Congenital anomaly of retina	Inferred relationship	Some
A rare, genetic cardiac disease characterized by an early onset of retinal artery macroaneurysms formation and concomitant supravalvular pulmonic stenosis, often requiring surgical correction.	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
A rare chromosomal anomaly syndrome, resulting from the partial deletion of the short arm of chromosome X, principally characterized by classical Norrie disease (bilateral, severe retinal malformations and opacity of the lens leading to congenital blindness, on occasion associated with progressive sensorineural deafness and intellectual disability), microcephaly, hypotonia, psychomotor and growth delay, moderate to severe mental handicap and disruptive behavior. Clinical phenotype is highly variable and immunodeficiency, epilepsy and hypogonadism have also been reported.	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
Congenital hypoplasia of retina (disorder)	Is a	True	Congenital anomaly of retina	Inferred relationship	Some

This concept is not in any reference sets

Back to Start

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
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