95695004: Degeneration 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)\Degenerative disorder of eye\Degeneration 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\Degeneration of retina
\Head finding (finding)\Finding of head region\Globe finding\Retina finding (finding)\Retinal disorder\Degeneration of retina
\Head finding (finding)\Finding of head region\Globe finding\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\Degeneration 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\Degeneration of retina
\Head finding (finding)\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\Degeneration 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\Degeneration of retina

\Eye / vision finding\Globe finding\Retina finding (finding)\Retinal disorder\Degeneration of retina
\Eye / vision finding\Globe finding\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\Degeneration 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\Degeneration of retina
\Eye / vision finding\Visual system disorder (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\Degeneration 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\Degeneration of retina

\Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\Degeneration 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\Degeneration of retina
\Disease\Degenerative disorder\Degenerative disorder of eye\Degeneration 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)\Degenerative disorder of eye\Degeneration 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\Degeneration of retina
\Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\Degeneration 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\Degeneration 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
Degeneration of retina	Is a	Retinal disorder	true	Inferred relationship	Some
Degeneration of retina	Is a	Degenerative disorder of eye	true	Inferred relationship	Some
Degeneration of retina	Finding site	Retinal structure	false	Inferred relationship	Some	1
Degeneration of retina	Associated morphology	dégénérescence	false	Inferred relationship	Some	1
Degeneration of retina	Associated morphology	dégénérescence	false	Inferred relationship	Some	1
Degeneration of retina	Finding site	Retinal structure	true	Inferred relationship	Some	1
Degeneration of retina	Associated morphology	Degenerative abnormality	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Myopic chorioretinal atrophy	Is a	True	Degeneration of retina	Inferred relationship	Some
Snail-track retinal degeneration	Is a	False	Degeneration of retina	Inferred relationship	Some
Snowflake retinal degeneration	Is a	False	Degeneration of retina	Inferred relationship	Some
Chorioretinal degeneration	Is a	False	Degeneration of retina	Inferred relationship	Some
Intraretinal degeneration	Is a	False	Degeneration of retina	Inferred relationship	Some
Retinoschisis	Is a	True	Degeneration of retina	Inferred relationship	Some
Alstrom syndrome	Is a	False	Degeneration of retina	Inferred relationship	Some
Familial pseudoinflammatory macular degeneration	Is a	False	Degeneration of retina	Inferred relationship	Some
Glaucomatous retinal degeneration	Is a	False	Degeneration of retina	Inferred relationship	Some
Generalized retinal degeneration	Is a	False	Degeneration of retina	Inferred relationship	Some
Feline central retinal degeneration	Is a	False	Degeneration of retina	Inferred relationship	Some
Multifocal retinal degeneration	Is a	False	Degeneration of retina	Inferred relationship	Some
Sudden acquired retinal degeneration	Is a	True	Degeneration of retina	Inferred relationship	Some
Atrophia bulborum hereditaria	Is a	False	Degeneration of retina	Inferred relationship	Some
Chorioretinal atrophy	Is a	False	Degeneration of retina	Inferred relationship	Some
Retina atrophic	Is a	False	Degeneration of retina	Inferred relationship	Some
Atrophic retina (disorder)	Is a	True	Degeneration of retina	Inferred relationship	Some
Glaucoma	Is a	False	Degeneration of retina	Inferred relationship	Some
Exudative age-related macular degeneration (disorder)	Is a	False	Degeneration of retina	Inferred relationship	Some
Macular degeneration	Is a	False	Degeneration of retina	Inferred relationship	Some
Degenerative drusen	Is a	False	Degeneration of retina	Inferred relationship	Some
Secondary pigmentary retinal degeneration	Is a	True	Degeneration of retina	Inferred relationship	Some
Peripheral retinal degeneration	Is a	True	Degeneration of retina	Inferred relationship	Some
Degenerative disorder of macula (disorder)	Is a	True	Degeneration of retina	Inferred relationship	Some
Snail-track retinal degeneration	Is a	False	Degeneration of retina	Inferred relationship	Some
Chorioretinal degeneration	Is a	True	Degeneration of retina	Inferred relationship	Some
Glaucomatous retinal degeneration	Is a	True	Degeneration of retina	Inferred relationship	Some
Generalized retinal degeneration	Is a	True	Degeneration of retina	Inferred relationship	Some
Multifocal retinal degeneration	Is a	True	Degeneration of retina	Inferred relationship	Some
Photoreceptor degeneration (disorder)	Is a	True	Degeneration of retina	Inferred relationship	Some
Primary congenital glaucoma (disorder)	Is a	False	Degeneration of retina	Inferred relationship	Some
Congenital chorioretinal degeneration	Is a	False	Degeneration 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	Degeneration 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	Degeneration 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	Degeneration of retina	Inferred relationship	Some
Degeneration of posterior pole of eye	Is a	False	Degeneration of retina	Inferred relationship	Some
Brachydactyly-short stature-retinitis pigmentosa syndrome is a rare, genetic, congenital limb malformation syndrome characterized by mild to severe short stature, brachydactyly, and retinal degeneration (usually retinitis pigmentosa), associated with variable intellectual disability, developmental delays, and craniofacial anomalies.	Is a	True	Degeneration of retina	Inferred relationship	Some
A rare, neurodegenerative disorder characterized by an early onset of truncal hypotonia, variable forms of seizures, athetosis, severe global developmental delay, intellectual disability and various ophthalmologic abnormalities, including strabismus, nystagmus, optic atrophy and retinal degeneration.	Is a	True	Degeneration of retina	Inferred relationship	Some
Retinal dystrophy	Is a	True	Degeneration of retina	Inferred relationship	Some
Arteriosclerotic retinopathy	Is a	True	Degeneration of retina	Inferred relationship	Some
Retinal deposits	Is a	False	Degeneration of retina	Inferred relationship	Some
A rare hereditary ataxia characterised by neurogenic muscular atrophy associated with signs of cerebellar ataxia, hypaesthesia, degeneration of the retina, and diabetes mellitus. Onset of the disease is in adolescence and the course is slowly progressive. There have been no further descriptions in the literature since 1983.	Is a	True	Degeneration of retina	Inferred relationship	Some
A rare multiple congenital anomalies/dysmorphic syndrome characterized by profound intellectual disability, choreoathetosis, progressive spastic diplegia, progressive tapetoretinal degeneration with loss of retinal vessels, and glomerulopathy resulting in death late in the first or early in the second decade of life. Absence of the cerebellar granular layer has been reported. There have been no further descriptions in the literature since 1982.	Is a	True	Degeneration of retina	Inferred relationship	Some
A rare genetic systemic or rheumatologic disease characterized by infantile onset of skin anomalies (such as delayed wound healing with atrophic scars and mild alopecia with dry and brittle hair), retinal rod degeneration with night blindness, degenerative myopathy with muscle weakness, myalgia, and cramps, osteoarthritis, joint laxity, prolapse of internal organs, floating kidney syndrome, malabsorption syndrome, and hypothyroidism. The phenotype has been reported to be more severe in women than in men.	Is a	True	Degeneration of retina	Inferred relationship	Some
A rare primary bone dysplasia characterized by microcephaly, developmental delay and intellectual disability, sensorineural hearing loss, retinal degeneration, and skeletal dysplasia. Musculoskeletal abnormalities include delayed ossification of epiphyses, spondyloepimetaphyseal dysplasia, short stature, severe spinal deformities, and severe joint laxity resulting in multiple joint dislocations.	Is a	True	Degeneration of retina	Inferred relationship	Some

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
158526011	Degeneration of retina	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
158529016	Retinal degeneration	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
839902013	Degeneration of retina (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1875651000195112	degenerazione della retina	it	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
12451000077112	dégénérescence de la rétine	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
392411000274112	Netzhautdegeneration	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
499801000274110	Retinadegeneration	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
557481000274114	Degeneration der Retina	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module