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

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

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

Status: current, Not 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
Hereditary retinal dystrophy (disorder)	Is a	Hereditary disease	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Hereditary retinal dystrophy (disorder)	Is a	Retinal dystrophy (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Hereditary retinal dystrophy (disorder)	Finding site	Retinal structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Hereditary retinal dystrophy (disorder)	Is a	Hereditary disorder of the visual system (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Hereditary retinal dystrophy (disorder)	Associated morphology	Dystrophy	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Hereditary retinal dystrophy (disorder)	Finding site	Retinal structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Oguchi's disease (disorder)	Is a	False	Hereditary retinal dystrophy (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital stationary night blindness	Is a	True	Hereditary retinal dystrophy (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Cone dystrophy	Is a	True	Hereditary retinal dystrophy (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Macular dystrophy	Is a	False	Hereditary retinal dystrophy (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Rod dystrophy	Is a	True	Hereditary retinal dystrophy (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Retinal dystrophy in systemic lipidosis	Is a	True	Hereditary retinal dystrophy (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Phytanic acid storage disease (disorder)	Is a	False	Hereditary retinal dystrophy (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Retinitis pigmentosa (disorder)	Is a	True	Hereditary retinal dystrophy (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Hyaline dystrophy of Bruch's membrane	Is a	True	Hereditary retinal dystrophy (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Fundus flavimaculatus	Is a	False	Hereditary retinal dystrophy (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Achromatopsia	Is a	False	Hereditary retinal dystrophy (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Pigmentary retinal dystrophy	Is a	False	Hereditary retinal dystrophy (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Stargardt's disease	Is a	False	Hereditary retinal dystrophy (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Vitreoretinal dystrophy (disorder)	Is a	True	Hereditary retinal dystrophy (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Progressive cone-rod dystrophy (disorder)	Is a	True	Hereditary retinal dystrophy (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Juvenile retinoschisis	Is a	True	Hereditary retinal dystrophy (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Hereditary retinal dystrophies in lipidoses	Is a	True	Hereditary retinal dystrophy (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Hyaline retinal dystrophy	Is a	True	Hereditary retinal dystrophy (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Unspecified hereditary retinal dystrophies	Is a	False	Hereditary retinal dystrophy (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Hereditary retinal dystrophies with other diseases	Is a	False	Hereditary retinal dystrophy (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Other pigmented retinal dystrophies	Is a	False	Hereditary retinal dystrophy (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Other sensory retinal dystrophy	Is a	False	Hereditary retinal dystrophy (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Other retinal pigmented epithelial dystrophies	Is a	False	Hereditary retinal dystrophy (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Other specified hereditary retinal dystrophy	Is a	False	Hereditary retinal dystrophy (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Hereditary retinal dystrophy NOS	Is a	False	Hereditary retinal dystrophy (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Hereditary macular dystrophy	Is a	True	Hereditary retinal dystrophy (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Hereditary retinal dystrophy primarily involving retinal pigment epithelium	Is a	True	Hereditary retinal dystrophy (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Hereditary retinal dystrophy primarily involving sensory retina	Is a	True	Hereditary retinal dystrophy (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Amelogenesis imperfecta co-occurrent with cone rod dystrophy	Is a	True	Hereditary retinal dystrophy (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Autosomal dominant vitreoretinochoroidopathy (disorder)	Is a	True	Hereditary retinal dystrophy (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Retinitis punctata albescens (disorder)	Is a	True	Hereditary retinal dystrophy (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Bothnia retinal dystrophy (disorder)	Is a	True	Hereditary retinal dystrophy (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
MORM syndrome	Is a	True	Hereditary retinal dystrophy (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Severe early childhood onset retinal dystrophy (disorder)	Is a	True	Hereditary retinal dystrophy (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Bietti's crystalline retinopathy	Is a	True	Hereditary retinal dystrophy (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Autosomal dominant late-onset retinal degeneration (disorder)	Is a	True	Hereditary retinal dystrophy (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Progressive bifocal chorioretinal atrophy	Is a	True	Hereditary retinal dystrophy (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Leber's amaurosis	Is a	True	Hereditary retinal dystrophy (disorder)	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	Hereditary retinal dystrophy (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Choroideremia with deafness and obesity syndrome	Is a	False	Hereditary retinal dystrophy (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
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 (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Reticular dystrophy of retinal pigment epithelium (disorder)	Is a	True	Hereditary retinal dystrophy (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Autosomal recessive bestrophinopathy	Is a	True	Hereditary retinal dystrophy (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Aland Islands eye disease (disorder)	Is a	True	Hereditary retinal dystrophy (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Pattern dystrophy of macula	Is a	True	Hereditary retinal dystrophy (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Fundus albipunctatus	Is a	True	Hereditary retinal dystrophy (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Kandori fleck retina syndrome (disorder)	Is a	True	Hereditary retinal dystrophy (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
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 (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Microcornea, rod-cone dystrophy, cataract, posterior staphyloma syndrome (disorder)	Is a	True	Hereditary retinal dystrophy (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
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 (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome (disorder)	Is a	True	Hereditary retinal dystrophy (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies	Is a	True	Hereditary retinal dystrophy (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Dominant drusen	Is a	True	Hereditary retinal dystrophy (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
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 (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
A rare, genetic retinal disorder characterised 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 (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Macular retinoschisis	Is a	True	Hereditary retinal dystrophy (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Alstrom syndrome	Is a	True	Hereditary retinal dystrophy (disorder)	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
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
69728015	Hereditary retinal dystrophy	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
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	Only initial character 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
643041000274113	Hereditäre Retinadystrophie	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
643051000274111	Hereditäre Netzhautdystrophie	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
4526401000241111	dystrophie rétinienne héréditaire	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
4526401000241111	dystrophie rétinienne héréditaire	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
643041000274113	Hereditäre Retinadystrophie	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
643051000274111	Hereditäre Netzhautdystrophie	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3388161001000115	Netzhautdystrophie	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module