41799005: Hereditary retinal dystrophy (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\Retinal dystrophy\Hereditary retinal dystrophy
\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\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy
\Head finding (finding)\Finding of head region\Globe finding\Retina finding (finding)\Retinal disorder\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy
\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\Retinal dystrophy\Hereditary retinal dystrophy
\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\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy
\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\Retinal dystrophy\Hereditary retinal dystrophy
\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\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy

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

\Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy
\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\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the visual system\Hereditary retinal dystrophy
\Disease\Degenerative disorder\Degenerative disorder of eye\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the visual system\Hereditary retinal dystrophy
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy
\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\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy
\Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system\Hereditary retinal dystrophy
\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\Retinal dystrophy\Hereditary retinal dystrophy
\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\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy

Status: current, Not 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

69728015 Hereditary retinal dystrophy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

778627018 Hereditary retinal dystrophy (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

2055841000005115 Hereditær retinadystrofi da Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Danish module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Hereditary retinal dystrophy	Is a	Hereditary disease	false	Inferred relationship	Some
Hereditary retinal dystrophy	Is a	Retinal dystrophy	true	Inferred relationship	Some
Hereditary retinal dystrophy	Finding site	Retinal structure	false	Inferred relationship	Some
Hereditary retinal dystrophy	Is a	Hereditary disorder of the visual system	true	Inferred relationship	Some
Hereditary retinal dystrophy	Associated morphology	Dystrophy	true	Inferred relationship	Some	1
Hereditary retinal dystrophy	Finding site	Retinal structure	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Oguchi's disease	Is a	False	Hereditary retinal dystrophy	Inferred relationship	Some
Congenital stationary night blindness	Is a	True	Hereditary retinal dystrophy	Inferred relationship	Some
Cone dystrophy	Is a	True	Hereditary retinal dystrophy	Inferred relationship	Some
Maculadystrofi	Is a	False	Hereditary retinal dystrophy	Inferred relationship	Some
Rod dystrophy	Is a	True	Hereditary retinal dystrophy	Inferred relationship	Some
Retinal dystrophy in systemic lipidosis	Is a	True	Hereditary retinal dystrophy	Inferred relationship	Some
HSMN IV	Is a	False	Hereditary retinal dystrophy	Inferred relationship	Some
Retinitis pigmentosa	Is a	True	Hereditary retinal dystrophy	Inferred relationship	Some
Hyaline dystrophy of Bruch's membrane	Is a	True	Hereditary retinal dystrophy	Inferred relationship	Some
Fundus flavimaculatus	Is a	False	Hereditary retinal dystrophy	Inferred relationship	Some
Achromatopsia	Is a	False	Hereditary retinal dystrophy	Inferred relationship	Some
retinal pigmentdystrofi	Is a	False	Hereditary retinal dystrophy	Inferred relationship	Some
Stargardt's disease	Is a	False	Hereditary retinal dystrophy	Inferred relationship	Some
Vitreoretinal dystrophy	Is a	True	Hereditary retinal dystrophy	Inferred relationship	Some
A rare retinal dystrophy with characteristics of photophobia, progressive loss of visual acuity, nystagmus, visual field abnormalities, abnormal color vision, and psychophysical and electrophysiological evidence of abnormal cone function. Progressive cone dystrophy usually presents in childhood or early adult life, and patients tend to develop rod photoreceptor dysfunction in later life.	Is a	True	Hereditary retinal dystrophy	Inferred relationship	Some
Juvenile retinoschisis	Is a	True	Hereditary retinal dystrophy	Inferred relationship	Some
Hereditary retinal dystrophies in lipidoses (disorder)	Is a	True	Hereditary retinal dystrophy	Inferred relationship	Some
Hyaline retinal dystrophy	Is a	True	Hereditary retinal dystrophy	Inferred relationship	Some
Unspecified hereditary retinal dystrophies	Is a	False	Hereditary retinal dystrophy	Inferred relationship	Some
Hereditary retinal dystrophies with other diseases	Is a	False	Hereditary retinal dystrophy	Inferred relationship	Some
Other pigmented retinal dystrophies	Is a	False	Hereditary retinal dystrophy	Inferred relationship	Some
Other sensory retinal dystrophy	Is a	False	Hereditary retinal dystrophy	Inferred relationship	Some
Other retinal pigmented epithelial dystrophies	Is a	False	Hereditary retinal dystrophy	Inferred relationship	Some
Other specified hereditary retinal dystrophy	Is a	False	Hereditary retinal dystrophy	Inferred relationship	Some
Hereditary retinal dystrophy NOS	Is a	False	Hereditary retinal dystrophy	Inferred relationship	Some
Hereditary macular dystrophy	Is a	True	Hereditary retinal dystrophy	Inferred relationship	Some
Hereditary retinal dystrophy primarily involving retinal pigment epithelium	Is a	True	Hereditary retinal dystrophy	Inferred relationship	Some
Hereditary retinal dystrophy primarily involving sensory retina	Is a	True	Hereditary retinal dystrophy	Inferred relationship	Some
Amelogenesis imperfecta co-occurrent with cone rod dystrophy	Is a	True	Hereditary retinal dystrophy	Inferred relationship	Some
Autosomal dominant vitreoretinochoroidopathy (disorder)	Is a	True	Hereditary retinal dystrophy	Inferred relationship	Some
Retinitis punctata albescens (disorder)	Is a	True	Hereditary retinal dystrophy	Inferred relationship	Some
Bothnia retinal dystrophy is a rare form of retinal dystrophy, seen mostly in Northern Sweden, presenting in early childhood with night blindness and progressive maculopathy with a decrease in visual acuity, eventually leading to blindness by adulthood. Retinal degeneration, without obvious bone spicule formation, accompanied by affected visual fields and the typical presence of retinitis punctata albescens in the posterior pole are also noted.	Is a	True	Hereditary retinal dystrophy	Inferred relationship	Some
A rare genetic syndromic intellectual disability characterized by language delay and mild to moderate intellectual disability associated with truncal obesity, congenital nonprogressive retinal dystrophy with poor night vision and reduced visual acuity, and micropenis in males. Cataracts may occur in the second or third decade of life.	Is a	True	Hereditary retinal dystrophy	Inferred relationship	Some
Severe early childhood onset retinal dystrophy (SECORD) is an inherited retinal dystrophy characterized by a severe congenital night blindness, progressive retinal dystrophy and nystagmus. Best corrected visual acuity can reach 0.3 in the first decade of life and can pertain well into the second decade of life. Blindness is often complete by the age of 30 years.	Is a	True	Hereditary retinal dystrophy	Inferred relationship	Some
Bietti's crystalline retinopathy	Is a	True	Hereditary retinal dystrophy	Inferred relationship	Some
Late-onset retinal degeneration is an inherited retinal dystrophy characterized by delayed dark adaptation and nyctalopia and drusen deposits presenting in adulthood, followed by cone and rod degeneration that presents in the sixth decade of life, which leads to central vision loss. Anterior segment features such as peripupillary iris transillumination defects and abnormally long anterior zonular insertions are also observed. Choroidal neovascularization and glaucoma may occur in the late stages of the disease.	Is a	True	Hereditary retinal dystrophy	Inferred relationship	Some
Progressive bifocal chorioretinal atrophy (PBCRA) is an early onset chorioretinal dystrophy characterised by large atrophic macular and nasal retinal lesions, nystagmus, myopia, poor vision, and slow disease progression.	Is a	True	Hereditary retinal dystrophy	Inferred relationship	Some
Leber's amaurosis	Is a	True	Hereditary retinal dystrophy	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	Hereditary retinal dystrophy	Inferred relationship	Some
An X-linked retinal dystrophy characterized by choroideremia, causing in affected males progressive nyctalopia and eventual central blindness. Obesity, moderate intellectual disability and congenital mixed (sensorineural and conductive) deafness are also observed. Female carriers show typical retinal changes indicative of the choroideremia carrier state.	Is a	False	Hereditary retinal dystrophy	Inferred relationship	Some
A rare non-progressive form of cone photoreceptor dysfunction syndrome characterized by reduced visual acuity, normal fundus appearance and absent or reduced cone responses on electroretinography. In contrast to all other forms of cone dysfunction color vision is normal.	Is a	True	Hereditary retinal dystrophy	Inferred relationship	Some
A rare, patterned dystrophy of the retinal pigment epithelium, of progressive course, characterized by the presence of a bilateral hyperpigmented reticular pattern resembling a fishnet with knots, resulting in a slowly progressive loss of vision that often only becomes apparent in old age. This disorder is sometimes associated with scleral staphyloma, choroidal neovascularization, convergent strabismus, spherophakia with myopia and luxated lenses, and partial atrophy of the iris.	Is a	True	Hereditary retinal dystrophy	Inferred relationship	Some
A rare retinal dystrophy, characterized by central visual loss in the first 2 decades of life, associated with an absent electrooculogram (EOG) light rise and a reduced electroretinogram (ERG).	Is a	True	Hereditary retinal dystrophy	Inferred relationship	Some
An X-linked recessive retinal disease characterized by fundus hypopigmentation, decreased visual acuity, nystagmus, astigmatism, progressive axial myopia, defective dark adaptation and protanopia.	Is a	True	Hereditary retinal dystrophy	Inferred relationship	Some
Pattern dystrophy of macula	Is a	True	Hereditary retinal dystrophy	Inferred relationship	Some
Fundus albipunctatus is a rare, genetic retinal dystrophy disorder characterized by the presence of numerous small, round, yellowish-white retinal lesions that are distributed throughout the retina but spare the fovea. Patients present in childhood with non-progressive night blindness with prolonged cone and rod adaptation times. The macula may or may not be involved, which may result in a decrease of central visual acuity with age.	Is a	True	Hereditary retinal dystrophy	Inferred relationship	Some
Kandori fleck retina is a rare, genetic retinal dystrophy disorder characterized by irregular, sharply defined, yellowish-white lesions of variable size that are distributed mainly in the nasal equatorial region of the retina, with a tendency to confluence, that are not associated with any vascular or optic nerve abnormalities. They frequently manifest as mild and stationary night blindness.	Is a	True	Hereditary retinal dystrophy	Inferred relationship	Some
Familial benign flecked retina is a rare retinal dystrophy characterized by diffuse bilateral white-yellow fleck-like lesions extending to the far periphery of the retina but sparing the foveal region, with asymptomatic clinical phenotype and absence of electrophysiologic deficits.	Is a	True	Hereditary retinal dystrophy	Inferred relationship	Some
A rare genetic retinal dystrophy disorder with characteristics of bilateral microcornea, rod-cone dystrophy, cataracts and posterior staphyloma, in the absence of other systemic features. Night blindness is typically the presenting manifestation and nystagmus, strabismus, astigmatism and angle closure glaucoma may be associated findings. Progressive visual acuity deterioration, due to pulverulent-like cataracts, results in poor vision ranging from no light perception to 20/400. There is evidence the disease is caused by heterozygous mutation in the bestrophin-1 gene (BEST1) on chromosome 11q12.	Is a	True	Hereditary retinal dystrophy	Inferred relationship	Some
A rare genetic metabolite absorption and transport disorder characterised by progressive rod-cone dystrophy, usually presenting with impaired night vision in childhood, progressive loss of visual acuity and severe retinol deficiency without keratomalacia. Association with ocular colobomas, severe acne and hypercholesterolaemia has been reported. There is evidence the disease can be caused by homozygous or compound heterozygous mutation in the RBP4 gene chromosome 10q23.	Is a	True	Hereditary retinal dystrophy	Inferred relationship	Some
A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of moderate to severe intellectual disability, congenital aphonia, hearing loss, optic atrophy, retinal dystrophy, broad thumbs and duplicated halluces. Facial dysmorphism (including thick eyebrows, ptosis, long, downslanting palpebral fissures, microstomia, low-set, posteriorly rotated ears) and genital abnormalities are also associated.	Is a	True	Hereditary retinal dystrophy	Inferred relationship	Some
A rare genetic retinal dystrophy disorder with characteristics of decreased central retinal sensitivity associated with hyper-reflectivity of ganglion cells and nerve fiber layer with loss of optic nerve fibers manifesting with photophobia, optic disc pallor and progressive loss of central vision with preservation of peripheral visual field. There is evidence the disease may be caused by heterozygous mutation in the ITM2B gene on chromosome 13q14.	Is a	True	Hereditary retinal dystrophy	Inferred relationship	Some
Dominant drusen	Is a	True	Hereditary retinal dystrophy	Inferred relationship	Some
Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome is characterized by the association of spondylometaphyseal dysplasia (marked by platyspondyly, shortening of the tubular bones and progressive metaphyseal irregularity and cupping), with postnatal growth retardation and progressive visual impairment due to cone-rod dystrophy. So far, it has been described in eight individuals. Transmission appears to be autosomal recessive.	Is a	True	Hereditary retinal dystrophy	Inferred relationship	Some
A rare, genetic retinal disorder characterized by bilateral iris coloboma, progressive retinal dystrophy and marked loss of vision, with or without congenital cataracts. Iridolenticular adhesions, scattered retinal pigmented epithelia mottling, and mild hypermetropic astigmatism may be associated.	Is a	True	Hereditary retinal dystrophy	Inferred relationship	Some
Macular retinoschisis	Is a	True	Hereditary retinal dystrophy	Inferred relationship	Some
Alstrom syndrome	Is a	True	Hereditary retinal dystrophy	Inferred relationship	Some

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
69728015	Hereditary retinal dystrophy	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
778627018	Hereditary retinal dystrophy (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2055841000005115	Hereditær retinadystrofi	da	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Danish module (core metadata concept)