771342004: Microcornea, rod-cone dystrophy, cataract, posterior staphyloma syndrome (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\cataracte\Microcornea, rod-cone dystrophy, cataract, posterior staphyloma syndrome (disorder)
\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\Microcornea, rod-cone dystrophy, cataract, posterior staphyloma syndrome (disorder)
\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\Microcornea, rod-cone dystrophy, cataract, posterior staphyloma syndrome (disorder)
\Finding of head region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of lens\cataracte\Microcornea, rod-cone dystrophy, cataract, posterior staphyloma syndrome (disorder)
\Finding of head region\constatation à propos d'un globe oculaire\Anterior segment finding (finding)\Crystalline lens finding\Cataract finding\cataracte\Microcornea, rod-cone dystrophy, cataract, posterior staphyloma syndrome (disorder)
\Finding of head region\constatation à propos d'un globe oculaire\Anterior segment finding (finding)\Crystalline lens finding\Disorder of lens\cataracte\Microcornea, rod-cone dystrophy, cataract, posterior staphyloma syndrome (disorder)
\Finding of head region\constatation à propos d'un globe oculaire\Anterior segment finding (finding)\Disorder of anterior segment of eye\Disorder of lens\cataracte\Microcornea, rod-cone dystrophy, cataract, posterior staphyloma syndrome (disorder)
\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\Microcornea, rod-cone dystrophy, cataract, posterior staphyloma syndrome (disorder)
\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\cataracte\Microcornea, rod-cone dystrophy, cataract, posterior staphyloma syndrome (disorder)
\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\Microcornea, rod-cone dystrophy, cataract, posterior staphyloma syndrome (disorder)
\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\Microcornea, rod-cone dystrophy, cataract, posterior staphyloma syndrome (disorder)
\Finding of head region\constatation à propos d'un globe oculaire\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of lens\cataracte\Microcornea, rod-cone dystrophy, cataract, posterior staphyloma syndrome (disorder)
\Finding of head region\constatation à propos d'un globe oculaire\Lesion of eye structure\Cataract finding\cataracte\Microcornea, rod-cone dystrophy, cataract, posterior staphyloma syndrome (disorder)

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

\Anomaly of eye (disorder)\affection dégénérative de l'œil\...

\cataracte\Microcornea, rod-cone dystrophy, cataract, posterior staphyloma syndrome (disorder)

\dégénérescence de la rétine\Retinal dystrophy\Hereditary retinal dystrophy\Microcornea, rod-cone dystrophy, cataract, posterior staphyloma syndrome (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\Microcornea, rod-cone dystrophy, cataract, posterior staphyloma syndrome (disorder)

\Disorder of anterior segment of eye\Disorder of lens\cataracte\Microcornea, rod-cone dystrophy, cataract, posterior staphyloma syndrome (disorder)

\constatation à propos des yeux ou de la vue\constatation à propos d'un globe oculaire\Anterior segment finding (finding)\Crystalline lens finding\Cataract finding\cataracte\Microcornea, rod-cone dystrophy, cataract, posterior staphyloma syndrome (disorder)
\constatation à propos des yeux ou de la vue\constatation à propos d'un globe oculaire\Anterior segment finding (finding)\Crystalline lens finding\Disorder of lens\cataracte\Microcornea, rod-cone dystrophy, cataract, posterior staphyloma syndrome (disorder)
\constatation à propos des yeux ou de la vue\constatation à propos d'un globe oculaire\Anterior segment finding (finding)\Disorder of anterior segment of eye\Disorder of lens\cataracte\Microcornea, rod-cone dystrophy, cataract, posterior staphyloma syndrome (disorder)
\constatation à propos des yeux ou de la vue\constatation à propos d'un globe oculaire\Retina finding (finding)\trouble rétinien (trouble)\dégénérescence de la rétine\Retinal dystrophy\Hereditary retinal dystrophy\Microcornea, rod-cone dystrophy, cataract, posterior staphyloma syndrome (disorder)
\constatation à propos des yeux ou de la vue\constatation à propos d'un globe oculaire\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\affection dégénérative de l'œil\cataracte\Microcornea, rod-cone dystrophy, cataract, posterior staphyloma syndrome (disorder)
\constatation à propos des yeux ou de la vue\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\Microcornea, rod-cone dystrophy, cataract, posterior staphyloma syndrome (disorder)
\constatation à propos des yeux ou de la vue\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\Microcornea, rod-cone dystrophy, cataract, posterior staphyloma syndrome (disorder)
\constatation à propos des yeux ou de la vue\constatation à propos d'un globe oculaire\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of lens\cataracte\Microcornea, rod-cone dystrophy, cataract, posterior staphyloma syndrome (disorder)
\constatation à propos des yeux ou de la vue\constatation à propos d'un globe oculaire\Lesion of eye structure\Cataract finding\cataracte\Microcornea, rod-cone dystrophy, cataract, posterior staphyloma syndrome (disorder)
\constatation à propos des yeux ou de la vue\affection du système visuel\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\affection dégénérative de l'œil\cataracte\Microcornea, rod-cone dystrophy, cataract, posterior staphyloma syndrome (disorder)
\constatation à propos des yeux ou de la vue\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\Microcornea, rod-cone dystrophy, cataract, posterior staphyloma syndrome (disorder)
\constatation à propos des yeux ou de la vue\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\Microcornea, rod-cone dystrophy, cataract, posterior staphyloma syndrome (disorder)
\constatation à propos des yeux ou de la vue\affection du système visuel\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of lens\cataracte\Microcornea, rod-cone dystrophy, cataract, posterior staphyloma syndrome (disorder)
\constatation à propos des yeux ou de la vue\affection du système visuel\Hereditary disorder of the visual system\Hereditary retinal dystrophy\Microcornea, rod-cone dystrophy, cataract, posterior staphyloma syndrome (disorder)

\Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of the visual system\Hereditary retinal dystrophy\Microcornea, rod-cone dystrophy, cataract, posterior staphyloma syndrome (disorder)
\Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Microcornea, rod-cone dystrophy, cataract, posterior staphyloma syndrome (disorder)
\Disease\affection dégénérative\affection dégénérative de l'œil\cataracte\Microcornea, rod-cone dystrophy, cataract, posterior staphyloma syndrome (disorder)
\Disease\affection dégénérative\affection dégénérative de l'œil\dégénérescence de la rétine\Retinal dystrophy\Hereditary retinal dystrophy\Microcornea, rod-cone dystrophy, cataract, posterior staphyloma syndrome (disorder)
\Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of the visual system\Hereditary retinal dystrophy\Microcornea, rod-cone dystrophy, cataract, posterior staphyloma syndrome (disorder)
\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\cataracte\Microcornea, rod-cone dystrophy, cataract, posterior staphyloma syndrome (disorder)
\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\Microcornea, rod-cone dystrophy, cataract, posterior staphyloma syndrome (disorder)
\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\Microcornea, rod-cone dystrophy, cataract, posterior staphyloma syndrome (disorder)
\Disease\affection d'un système corporel\affection du système visuel\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of lens\cataracte\Microcornea, rod-cone dystrophy, cataract, posterior staphyloma syndrome (disorder)
\Disease\affection d'un système corporel\affection du système visuel\Hereditary disorder of the visual system\Hereditary retinal dystrophy\Microcornea, rod-cone dystrophy, cataract, posterior staphyloma syndrome (disorder)
\Disease\affection de la tête\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\affection dégénérative de l'œil\cataracte\Microcornea, rod-cone dystrophy, cataract, posterior staphyloma syndrome (disorder)
\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\Microcornea, rod-cone dystrophy, cataract, posterior staphyloma syndrome (disorder)
\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\Microcornea, rod-cone dystrophy, cataract, posterior staphyloma syndrome (disorder)
\Disease\affection de la tête\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of lens\cataracte\Microcornea, rod-cone dystrophy, cataract, posterior staphyloma syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3705834019 Microcornea, rod-cone dystrophy, cataract, posterior staphyloma syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3705835018 Microcornea, rod-cone dystrophy, cataract, posterior staphyloma syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3705836017 MRCS syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

3705837014 MRCS (microcornea, rod-cone dystrophy, cataract, posterior staphyloma) syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

3705838016 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. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Microcornea, rod-cone dystrophy, cataract, posterior staphyloma syndrome (disorder)	morphologie associée (attribut)	opacité	true	Inferred relationship	Some	2
Microcornea, rod-cone dystrophy, cataract, posterior staphyloma syndrome (disorder)	morphologie associée (attribut)	Cataract	false	Inferred relationship	Some	2
Microcornea, rod-cone dystrophy, cataract, posterior staphyloma syndrome (disorder)	localisation d'une constatation (attribut)	structure de la rétine	true	Inferred relationship	Some	1
Microcornea, rod-cone dystrophy, cataract, posterior staphyloma syndrome (disorder)	localisation d'une constatation (attribut)	cristallin	true	Inferred relationship	Some	2
Microcornea, rod-cone dystrophy, cataract, posterior staphyloma syndrome (disorder)	est un(e) (attribut)	cataracte	true	Inferred relationship	Some
Microcornea, rod-cone dystrophy, cataract, posterior staphyloma syndrome (disorder)	morphologie associée (attribut)	Dystrophy (morphologic abnormality)	true	Inferred relationship	Some	1
Microcornea, rod-cone dystrophy, cataract, posterior staphyloma syndrome (disorder)	est un(e) (attribut)	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Microcornea, rod-cone dystrophy, cataract, posterior staphyloma syndrome (disorder)	est un(e) (attribut)	Hereditary retinal dystrophy	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
3705834019	Microcornea, rod-cone dystrophy, cataract, posterior staphyloma syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3705835018	Microcornea, rod-cone dystrophy, cataract, posterior staphyloma syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3705836017	MRCS syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3705837014	MRCS (microcornea, rod-cone dystrophy, cataract, posterior staphyloma) syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3705838016	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.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core