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41799005: Hereditary retinal dystrophy (disorder)

SNOMED CT Concept\constatation clinique\...

\constatation à propos d'une région de la tête et du cou\Head finding (finding)\...

\Finding of head region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\affection dégénérative de l'œil\dégénérescence de la rétine\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)\trouble rétinien (trouble)\dégénérescence de la rétine\Retinal dystrophy\Hereditary retinal dystrophy
\Finding of head region\constatation à propos d'un globe oculaire\Retina finding (finding)\trouble rétinien (trouble)\dégénérescence de la rétine\Retinal dystrophy\Hereditary retinal dystrophy
\Finding of head region\constatation à propos d'un globe oculaire\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\affection dégénérative de l'œil\dégénérescence de la rétine\Retinal dystrophy\Hereditary retinal dystrophy
\Finding of head region\constatation à propos d'un globe oculaire\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\trouble rétinien (trouble)\dégénérescence de la rétine\Retinal dystrophy\Hereditary retinal dystrophy

\affection de la tête\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\...

\Anomaly of eye (disorder)\affection dégénérative de l'œil\dégénérescence de la rétine\Retinal dystrophy\Hereditary retinal dystrophy

\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\trouble rétinien (trouble)\dégénérescence de la rétine\Retinal dystrophy\Hereditary retinal dystrophy

\Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of the visual system\Hereditary retinal dystrophy
\Disease\affection dégénérative\affection dégénérative de l'œil\dégénérescence de la rétine\Retinal dystrophy\Hereditary retinal dystrophy
\Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of the visual system\Hereditary retinal dystrophy
\Disease\affection d'un système corporel\affection du système visuel\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\affection dégénérative de l'œil\dégénérescence de la rétine\Retinal dystrophy\Hereditary retinal dystrophy
\Disease\affection d'un système corporel\affection du système visuel\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\trouble rétinien (trouble)\dégénérescence de la rétine\Retinal dystrophy\Hereditary retinal dystrophy
\Disease\affection d'un système corporel\affection du système visuel\Hereditary disorder of the visual system\Hereditary retinal dystrophy
\Disease\affection de la tête\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\affection dégénérative de l'œil\dégénérescence de la rétine\Retinal dystrophy\Hereditary retinal dystrophy
\Disease\affection de la tête\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\trouble rétinien (trouble)\dégénérescence de la rétine\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
69729011 Hereditary retinal dystrophy, NOS en Synonym (core metadata concept) Inactive 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

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Hereditary retinal dystrophy	est un(e) (attribut)	Hereditary disorder of the visual system	true	Inferred relationship	Some
Hereditary retinal dystrophy	est un(e) (attribut)	maladie héréditaire	false	Inferred relationship	Some
Hereditary retinal dystrophy	est un(e) (attribut)	Retinal dystrophy	true	Inferred relationship	Some
Hereditary retinal dystrophy	morphologie associée (attribut)	Dystrophy (morphologic abnormality)	true	Inferred relationship	Some	1
Hereditary retinal dystrophy	localisation d'une constatation (attribut)	structure de la rétine	true	Inferred relationship	Some	1
Hereditary retinal dystrophy	localisation d'une constatation (attribut)	structure de la rétine	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Progressive retinal dystrophy due to retinol transport defect (disorder)	est un(e) (attribut)	True	Hereditary retinal dystrophy	Inferred relationship	Some
Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome (disorder)	est un(e) (attribut)	True	Hereditary retinal dystrophy	Inferred relationship	Some
dystrophie rétinienne avec anomalies de la couche nucléaire interne et des cellules ganglionnaires	est un(e) (attribut)	True	Hereditary retinal dystrophy	Inferred relationship	Some
Dominant drusen	est un(e) (attribut)	True	Hereditary retinal dystrophy	Inferred relationship	Some
Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome (disorder)	est un(e) (attribut)	True	Hereditary retinal dystrophy	Inferred relationship	Some
Familial progressive retinal dystrophy, iris coloboma, congenital cataract syndrome (disorder)	est un(e) (attribut)	True	Hereditary retinal dystrophy	Inferred relationship	Some
Macular retinoschisis	est un(e) (attribut)	True	Hereditary retinal dystrophy	Inferred relationship	Some
Cone dystrophy	est un(e) (attribut)	True	Hereditary retinal dystrophy	Inferred relationship	Some
Macular dystrophy	est un(e) (attribut)	False	Hereditary retinal dystrophy	Inferred relationship	Some
Rod dystrophy	est un(e) (attribut)	True	Hereditary retinal dystrophy	Inferred relationship	Some
Retinal dystrophy in systemic lipidosis	est un(e) (attribut)	True	Hereditary retinal dystrophy	Inferred relationship	Some
HSMN IV	est un(e) (attribut)	False	Hereditary retinal dystrophy	Inferred relationship	Some
rétinite pigmentaire (trouble)	est un(e) (attribut)	True	Hereditary retinal dystrophy	Inferred relationship	Some
Oguchi's disease	est un(e) (attribut)	False	Hereditary retinal dystrophy	Inferred relationship	Some
Hyaline dystrophy of Bruch's membrane	est un(e) (attribut)	True	Hereditary retinal dystrophy	Inferred relationship	Some
Fundus flavimaculatus (disorder)	est un(e) (attribut)	False	Hereditary retinal dystrophy	Inferred relationship	Some
achromatopsie (trouble)	est un(e) (attribut)	False	Hereditary retinal dystrophy	Inferred relationship	Some
Pigmentary retinal dystrophy	est un(e) (attribut)	False	Hereditary retinal dystrophy	Inferred relationship	Some
Stargardt's disease	est un(e) (attribut)	False	Hereditary retinal dystrophy	Inferred relationship	Some
Vitreoretinal dystrophy	est un(e) (attribut)	True	Hereditary retinal dystrophy	Inferred relationship	Some
Progressive cone-rod dystrophy	est un(e) (attribut)	True	Hereditary retinal dystrophy	Inferred relationship	Some
Juvenile retinoschisis	est un(e) (attribut)	True	Hereditary retinal dystrophy	Inferred relationship	Some
Hereditary retinal dystrophies in lipidoses	est un(e) (attribut)	True	Hereditary retinal dystrophy	Inferred relationship	Some
Hyaline retinal dystrophy	est un(e) (attribut)	True	Hereditary retinal dystrophy	Inferred relationship	Some
Hereditary macular dystrophy	est un(e) (attribut)	True	Hereditary retinal dystrophy	Inferred relationship	Some
Unspecified hereditary retinal dystrophies	est un(e) (attribut)	False	Hereditary retinal dystrophy	Inferred relationship	Some
Hereditary retinal dystrophies with other diseases	est un(e) (attribut)	False	Hereditary retinal dystrophy	Inferred relationship	Some
Other pigmented retinal dystrophies	est un(e) (attribut)	False	Hereditary retinal dystrophy	Inferred relationship	Some
Other sensory retinal dystrophy	est un(e) (attribut)	False	Hereditary retinal dystrophy	Inferred relationship	Some
Other retinal pigmented epithelial dystrophies	est un(e) (attribut)	False	Hereditary retinal dystrophy	Inferred relationship	Some
Other specified hereditary retinal dystrophy	est un(e) (attribut)	False	Hereditary retinal dystrophy	Inferred relationship	Some
Hereditary retinal dystrophy NOS	est un(e) (attribut)	False	Hereditary retinal dystrophy	Inferred relationship	Some
Congenital stationary night blindness	est un(e) (attribut)	True	Hereditary retinal dystrophy	Inferred relationship	Some
Hereditary retinal dystrophy primarily involving retinal pigment epithelium	est un(e) (attribut)	True	Hereditary retinal dystrophy	Inferred relationship	Some
Hereditary retinal dystrophy primarily involving sensory retina	est un(e) (attribut)	True	Hereditary retinal dystrophy	Inferred relationship	Some
Amelogenesis imperfecta co-occurrent with cone rod dystrophy	est un(e) (attribut)	True	Hereditary retinal dystrophy	Inferred relationship	Some
vitréo-rétino-choroïdopathie autosomique dominante	est un(e) (attribut)	True	Hereditary retinal dystrophy	Inferred relationship	Some
Retinitis punctata albescens (disorder)	est un(e) (attribut)	True	Hereditary retinal dystrophy	Inferred relationship	Some
Bothnia retinal dystrophy (disorder)	est un(e) (attribut)	True	Hereditary retinal dystrophy	Inferred relationship	Some
Intellectual disability, truncal obesity, retinal dystrophy and micropenis syndrome (disorder)	est un(e) (attribut)	True	Hereditary retinal dystrophy	Inferred relationship	Some
Severe early childhood onset retinal dystrophy (disorder)	est un(e) (attribut)	True	Hereditary retinal dystrophy	Inferred relationship	Some
Bietti's crystalline retinopathy	est un(e) (attribut)	True	Hereditary retinal dystrophy	Inferred relationship	Some
Autosomal dominant late-onset retinal degeneration (disorder)	est un(e) (attribut)	True	Hereditary retinal dystrophy	Inferred relationship	Some
atrophie bifocale choriorétinienne progressive	est un(e) (attribut)	True	Hereditary retinal dystrophy	Inferred relationship	Some
Leber's amaurosis	est un(e) (attribut)	True	Hereditary retinal dystrophy	Inferred relationship	Some
Amaurosis hypertrichosis syndrome (disorder)	est un(e) (attribut)	True	Hereditary retinal dystrophy	Inferred relationship	Some
Choroideremia with deafness and obesity syndrome (disorder)	est un(e) (attribut)	False	Hereditary retinal dystrophy	Inferred relationship	Some
Oligocone trichromacy (disorder)	est un(e) (attribut)	True	Hereditary retinal dystrophy	Inferred relationship	Some
dystrophie réticulée de l'épithélium pigmentaire rétinien	est un(e) (attribut)	True	Hereditary retinal dystrophy	Inferred relationship	Some
Autosomal recessive bestrophinopathy	est un(e) (attribut)	True	Hereditary retinal dystrophy	Inferred relationship	Some
Aland Islands eye disease (disorder)	est un(e) (attribut)	True	Hereditary retinal dystrophy	Inferred relationship	Some
Pattern dystrophy of macula	est un(e) (attribut)	True	Hereditary retinal dystrophy	Inferred relationship	Some
Fundus albipunctatus	est un(e) (attribut)	True	Hereditary retinal dystrophy	Inferred relationship	Some
Kandori fleck retina syndrome	est un(e) (attribut)	True	Hereditary retinal dystrophy	Inferred relationship	Some
Familial benign flecked retina	est un(e) (attribut)	True	Hereditary retinal dystrophy	Inferred relationship	Some
Microcornea, rod-cone dystrophy, cataract, posterior staphyloma syndrome (disorder)	est un(e) (attribut)	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
69729011	Hereditary retinal dystrophy, NOS	en	Synonym (core metadata concept)	Inactive	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