41799005: Hereditary retinal dystrophy (disorder)

SNOMED CT Concept\Clinical finding\...

\Finding of head and neck region\Head finding\...

\Finding of head region\Disorder of eye region\Disorder of eye proper\Anomaly of eye\Degenerative disorder of eye\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy
\Finding of head region\Disorder of eye region\Disorder of eye proper\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Retinal disorder\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy
\Finding of head region\Globe finding\Retina finding\Retinal disorder\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy
\Finding of head region\Globe finding\Disorder of eye proper\Anomaly of eye\Degenerative disorder of eye\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy
\Finding of head region\Globe finding\Disorder of eye proper\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Retinal disorder\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy

\Disorder of head\Disorder of eye region\Disorder of eye proper\...

\Anomaly of eye\Degenerative disorder of eye\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy

\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Retinal disorder\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy

\Eye / vision finding\Globe finding\Retina finding\Retinal disorder\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy
\Eye / vision finding\Globe finding\Disorder of eye proper\Anomaly of eye\Degenerative disorder of eye\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy
\Eye / vision finding\Globe finding\Disorder of eye proper\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Retinal disorder\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye proper\Anomaly of eye\Degenerative disorder of eye\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye proper\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\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\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 of eye proper\Anomaly of eye\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 of eye proper\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\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 of eye region\Disorder of eye proper\Anomaly of eye\Degenerative disorder of eye\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy
\Disease\Disorder of head\Disorder of eye region\Disorder of eye proper\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Retinal disorder\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2002. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

69728015 Hereditary retinal dystrophy en Synonym Active Entire term case insensitive SNOMED CT core module

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

Expanded Value Set

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

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Oguchi's disease	Is a	False	Hereditary retinal dystrophy	Inferred relationship	Existential restriction modifier
Congenital stationary night blindness	Is a	True	Hereditary retinal dystrophy	Inferred relationship	Existential restriction modifier
Cone dystrophy	Is a	True	Hereditary retinal dystrophy	Inferred relationship	Existential restriction modifier
Macular dystrophy	Is a	False	Hereditary retinal dystrophy	Inferred relationship	Existential restriction modifier
Rod dystrophy	Is a	True	Hereditary retinal dystrophy	Inferred relationship	Existential restriction modifier
Retinal dystrophy in systemic lipidosis	Is a	True	Hereditary retinal dystrophy	Inferred relationship	Existential restriction modifier
Phytanic acid storage disease	Is a	False	Hereditary retinal dystrophy	Inferred relationship	Existential restriction modifier
Retinitis pigmentosa	Is a	True	Hereditary retinal dystrophy	Inferred relationship	Existential restriction modifier
Hyaline dystrophy of Bruch's membrane	Is a	True	Hereditary retinal dystrophy	Inferred relationship	Existential restriction modifier
Fundus flavimaculatus	Is a	False	Hereditary retinal dystrophy	Inferred relationship	Existential restriction modifier
Achromatopsia	Is a	False	Hereditary retinal dystrophy	Inferred relationship	Existential restriction modifier
Pigmentary retinal dystrophy	Is a	False	Hereditary retinal dystrophy	Inferred relationship	Existential restriction modifier
Stargardt's disease	Is a	False	Hereditary retinal dystrophy	Inferred relationship	Existential restriction modifier
Vitreoretinal dystrophy	Is a	True	Hereditary retinal dystrophy	Inferred relationship	Existential restriction modifier
Progressive cone-rod dystrophy	Is a	True	Hereditary retinal dystrophy	Inferred relationship	Existential restriction modifier
Juvenile retinoschisis	Is a	True	Hereditary retinal dystrophy	Inferred relationship	Existential restriction modifier
Hereditary retinal dystrophies in lipidoses	Is a	True	Hereditary retinal dystrophy	Inferred relationship	Existential restriction modifier
Hyaline retinal dystrophy	Is a	True	Hereditary retinal dystrophy	Inferred relationship	Existential restriction modifier
Unspecified hereditary retinal dystrophies	Is a	False	Hereditary retinal dystrophy	Inferred relationship	Existential restriction modifier
Hereditary retinal dystrophies with other diseases	Is a	False	Hereditary retinal dystrophy	Inferred relationship	Existential restriction modifier
Other pigmented retinal dystrophies	Is a	False	Hereditary retinal dystrophy	Inferred relationship	Existential restriction modifier
Other sensory retinal dystrophy	Is a	False	Hereditary retinal dystrophy	Inferred relationship	Existential restriction modifier
Other retinal pigmented epithelial dystrophies	Is a	False	Hereditary retinal dystrophy	Inferred relationship	Existential restriction modifier
Other specified hereditary retinal dystrophy	Is a	False	Hereditary retinal dystrophy	Inferred relationship	Existential restriction modifier
Hereditary retinal dystrophy NOS	Is a	False	Hereditary retinal dystrophy	Inferred relationship	Existential restriction modifier
Hereditary macular dystrophy	Is a	True	Hereditary retinal dystrophy	Inferred relationship	Existential restriction modifier
Hereditary retinal dystrophy primarily involving retinal pigment epithelium	Is a	True	Hereditary retinal dystrophy	Inferred relationship	Existential restriction modifier
Hereditary retinal dystrophy primarily involving sensory retina	Is a	True	Hereditary retinal dystrophy	Inferred relationship	Existential restriction modifier
Amelogenesis imperfecta co-occurrent with cone rod dystrophy	Is a	True	Hereditary retinal dystrophy	Inferred relationship	Existential restriction modifier
Autosomal dominant vitreoretinochoroidopathy	Is a	True	Hereditary retinal dystrophy	Inferred relationship	Existential restriction modifier
Retinitis punctata albescens	Is a	True	Hereditary retinal dystrophy	Inferred relationship	Existential restriction modifier
Bothnia retinal dystrophy	Is a	True	Hereditary retinal dystrophy	Inferred relationship	Existential restriction modifier
Intellectual disability, truncal obesity, retinal dystrophy and micropenis syndrome	Is a	True	Hereditary retinal dystrophy	Inferred relationship	Existential restriction modifier
Severe early childhood onset retinal dystrophy	Is a	True	Hereditary retinal dystrophy	Inferred relationship	Existential restriction modifier
Bietti's crystalline retinopathy	Is a	True	Hereditary retinal dystrophy	Inferred relationship	Existential restriction modifier
Autosomal dominant late-onset retinal degeneration	Is a	True	Hereditary retinal dystrophy	Inferred relationship	Existential restriction modifier
Progressive bifocal chorioretinal atrophy	Is a	True	Hereditary retinal dystrophy	Inferred relationship	Existential restriction modifier
Leber's amaurosis	Is a	True	Hereditary retinal dystrophy	Inferred relationship	Existential restriction modifier
Amaurosis hypertrichosis syndrome	Is a	True	Hereditary retinal dystrophy	Inferred relationship	Existential restriction modifier
Choroideremia with deafness and obesity syndrome	Is a	False	Hereditary retinal dystrophy	Inferred relationship	Existential restriction modifier
Oligocone trichromacy	Is a	True	Hereditary retinal dystrophy	Inferred relationship	Existential restriction modifier
Reticular dystrophy of retinal pigment epithelium	Is a	True	Hereditary retinal dystrophy	Inferred relationship	Existential restriction modifier
Autosomal recessive bestrophinopathy	Is a	True	Hereditary retinal dystrophy	Inferred relationship	Existential restriction modifier
Aland Islands eye disease	Is a	True	Hereditary retinal dystrophy	Inferred relationship	Existential restriction modifier
Pattern dystrophy of macula	Is a	True	Hereditary retinal dystrophy	Inferred relationship	Existential restriction modifier
Fundus albipunctatus	Is a	True	Hereditary retinal dystrophy	Inferred relationship	Existential restriction modifier
Kandori fleck retina syndrome	Is a	True	Hereditary retinal dystrophy	Inferred relationship	Existential restriction modifier
Familial benign flecked retina	Is a	True	Hereditary retinal dystrophy	Inferred relationship	Existential restriction modifier
Microcornea, rod-cone dystrophy, cataract, posterior staphyloma syndrome	Is a	True	Hereditary retinal dystrophy	Inferred relationship	Existential restriction modifier
Progressive retinal dystrophy due to retinol transport defect	Is a	True	Hereditary retinal dystrophy	Inferred relationship	Existential restriction modifier
Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome	Is a	True	Hereditary retinal dystrophy	Inferred relationship	Existential restriction modifier
Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies	Is a	True	Hereditary retinal dystrophy	Inferred relationship	Existential restriction modifier
Dominant drusen	Is a	True	Hereditary retinal dystrophy	Inferred relationship	Existential restriction modifier
Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome	Is a	True	Hereditary retinal dystrophy	Inferred relationship	Existential restriction modifier
Familial progressive retinal dystrophy, iris coloboma, congenital cataract syndrome	Is a	True	Hereditary retinal dystrophy	Inferred relationship	Existential restriction modifier
Macular retinoschisis	Is a	True	Hereditary retinal dystrophy	Inferred relationship	Existential restriction modifier
Alstrom syndrome	Is a	True	Hereditary retinal dystrophy	Inferred relationship	Existential restriction modifier
Other sensory retinal dystrophy	Is a	False	Hereditary retinal dystrophy	Inferred relationship	Existential restriction modifier
Unspecified hereditary retinal dystrophies	Is a	False	Hereditary retinal dystrophy	Inferred relationship	Existential restriction modifier
Hereditary retinal dystrophies with other diseases	Is a	False	Hereditary retinal dystrophy	Inferred relationship	Existential restriction modifier
Other retinal pigmented epithelial dystrophies	Is a	False	Hereditary retinal dystrophy	Inferred relationship	Existential restriction modifier
Other pigmented retinal dystrophies	Is a	False	Hereditary retinal dystrophy	Inferred relationship	Existential restriction modifier
Other specified hereditary retinal dystrophy	Is a	False	Hereditary retinal dystrophy	Inferred relationship	Existential restriction modifier
Hereditary retinal dystrophy NOS	Is a	False	Hereditary retinal dystrophy	Inferred relationship	Existential restriction modifier

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