41799005: Hereditary retinal dystrophy (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\Finding of head and neck region\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
\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
\Finding of head region\Globe finding\Retina finding (finding)\Retinal disorder\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy
\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
\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

\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

\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 (disorder)\Hereditary retinal dystrophy

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the visual system (disorder)\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 (disorder)\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 (disorder)\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

4526401000241111 dystrophie rétinienne héréditaire fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

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 (disorder)	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 (disorder)	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
Macular dystrophy	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
Pigmentary retinal dystrophy	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
Progressive cone-rod dystrophy	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	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 (disorder)	Is a	True	Hereditary retinal dystrophy	Inferred relationship	Some
Intellectual disability, truncal obesity, retinal dystrophy and micropenis syndrome (disorder)	Is a	True	Hereditary retinal dystrophy	Inferred relationship	Some
Severe early childhood onset retinal dystrophy (disorder)	Is a	True	Hereditary retinal dystrophy	Inferred relationship	Some
Bietti's crystalline retinopathy	Is a	True	Hereditary retinal dystrophy	Inferred relationship	Some
Autosomal dominant late-onset retinal degeneration (disorder)	Is a	True	Hereditary retinal dystrophy	Inferred relationship	Some
Progressive bifocal chorioretinal atrophy (disorder)	Is a	True	Hereditary retinal dystrophy	Inferred relationship	Some
Leber's amaurosis	Is a	True	Hereditary retinal dystrophy	Inferred relationship	Some
Amaurosis hypertrichosis syndrome (disorder)	Is a	True	Hereditary retinal dystrophy	Inferred relationship	Some
Choroideremia with deafness and obesity syndrome (disorder)	Is a	False	Hereditary retinal dystrophy	Inferred relationship	Some
Oligocone trichromacy (disorder)	Is a	True	Hereditary retinal dystrophy	Inferred relationship	Some
Reticular dystrophy of retinal pigment epithelium (disorder)	Is a	True	Hereditary retinal dystrophy	Inferred relationship	Some
Autosomal recessive bestrophinopathy	Is a	True	Hereditary retinal dystrophy	Inferred relationship	Some
Aland Islands eye disease (disorder)	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	True	Hereditary retinal dystrophy	Inferred relationship	Some
Kandori fleck retina syndrome	Is a	True	Hereditary retinal dystrophy	Inferred relationship	Some
Familial benign flecked retina	Is a	True	Hereditary retinal dystrophy	Inferred relationship	Some
Microcornea, rod-cone dystrophy, cataract, posterior staphyloma syndrome (disorder)	Is a	True	Hereditary retinal dystrophy	Inferred relationship	Some
Progressive retinal dystrophy due to retinol transport defect (disorder)	Is a	True	Hereditary retinal dystrophy	Inferred relationship	Some
Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome (disorder)	Is a	True	Hereditary retinal dystrophy	Inferred relationship	Some
Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies	Is a	True	Hereditary retinal dystrophy	Inferred relationship	Some
Dominant drusen	Is a	True	Hereditary retinal dystrophy	Inferred relationship	Some
Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome (disorder)	Is a	True	Hereditary retinal dystrophy	Inferred relationship	Some
Familial progressive retinal dystrophy, iris coloboma, congenital cataract syndrome (disorder)	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
4526401000241111	dystrophie rétinienne héréditaire	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module