771342004: Microcornea, rod-cone dystrophy, cataract, posterior staphyloma syndrome (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\Anomaly of eye\Lesion of eye\Cataract\Microcornea, rod-cone dystrophy, cataract, posterior staphyloma syndrome
\Finding of head region\Disorder of eye region\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Cataract\Microcornea, rod-cone dystrophy, cataract, posterior staphyloma syndrome
\Finding of head region\Disorder of eye region\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Microcornea, rod-cone dystrophy, cataract, posterior staphyloma syndrome
\Finding of head region\Disorder of eye region\Disorder of eye\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Retinal disorder\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Microcornea, rod-cone dystrophy, cataract, posterior staphyloma syndrome
\Finding of head region\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Disorder of lens\Cataract\Microcornea, rod-cone dystrophy, cataract, posterior staphyloma syndrome
\Finding of head region\Globe finding\Anterior segment finding\Crystalline lens finding\Cataract finding\Cataract\Microcornea, rod-cone dystrophy, cataract, posterior staphyloma syndrome
\Finding of head region\Globe finding\Anterior segment finding\Crystalline lens finding\Disorder of lens\Cataract\Microcornea, rod-cone dystrophy, cataract, posterior staphyloma syndrome
\Finding of head region\Globe finding\Anterior segment finding\Disorder of anterior segment of eye\Disorder of lens\Cataract\Microcornea, rod-cone dystrophy, cataract, posterior staphyloma syndrome
\Finding of head region\Globe finding\Retina finding\Retinal disorder\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Microcornea, rod-cone dystrophy, cataract, posterior staphyloma syndrome
\Finding of head region\Globe finding\Disorder of eye\Anomaly of eye\Lesion of eye\Cataract\Microcornea, rod-cone dystrophy, cataract, posterior staphyloma syndrome
\Finding of head region\Globe finding\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Cataract\Microcornea, rod-cone dystrophy, cataract, posterior staphyloma syndrome
\Finding of head region\Globe finding\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Microcornea, rod-cone dystrophy, cataract, posterior staphyloma syndrome
\Finding of head region\Globe finding\Disorder of eye\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Retinal disorder\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Microcornea, rod-cone dystrophy, cataract, posterior staphyloma syndrome
\Finding of head region\Globe finding\Disorder of eye\Disorder of anterior segment of eye\Disorder of lens\Cataract\Microcornea, rod-cone dystrophy, cataract, posterior staphyloma syndrome

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

\Anomaly of eye\Lesion of eye\Cataract\Microcornea, rod-cone dystrophy, cataract, posterior staphyloma syndrome
\Anomaly of eye\Degenerative disorder of eye\Cataract\Microcornea, rod-cone dystrophy, cataract, posterior staphyloma syndrome
\Anomaly of eye\Degenerative disorder of eye\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Microcornea, rod-cone dystrophy, cataract, posterior staphyloma syndrome

\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Retinal disorder\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Microcornea, rod-cone dystrophy, cataract, posterior staphyloma syndrome

\Disorder of anterior segment of eye\Disorder of lens\Cataract\Microcornea, rod-cone dystrophy, cataract, posterior staphyloma syndrome

\Eye / vision finding\Globe finding\Anterior segment finding\Crystalline lens finding\Cataract finding\Cataract\Microcornea, rod-cone dystrophy, cataract, posterior staphyloma syndrome
\Eye / vision finding\Globe finding\Anterior segment finding\Crystalline lens finding\Disorder of lens\Cataract\Microcornea, rod-cone dystrophy, cataract, posterior staphyloma syndrome
\Eye / vision finding\Globe finding\Anterior segment finding\Disorder of anterior segment of eye\Disorder of lens\Cataract\Microcornea, rod-cone dystrophy, cataract, posterior staphyloma syndrome
\Eye / vision finding\Globe finding\Retina finding\Retinal disorder\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Microcornea, rod-cone dystrophy, cataract, posterior staphyloma syndrome
\Eye / vision finding\Globe finding\Disorder of eye\Anomaly of eye\Lesion of eye\Cataract\Microcornea, rod-cone dystrophy, cataract, posterior staphyloma syndrome
\Eye / vision finding\Globe finding\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Cataract\Microcornea, rod-cone dystrophy, cataract, posterior staphyloma syndrome
\Eye / vision finding\Globe finding\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Microcornea, rod-cone dystrophy, cataract, posterior staphyloma syndrome
\Eye / vision finding\Globe finding\Disorder of eye\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Retinal disorder\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Microcornea, rod-cone dystrophy, cataract, posterior staphyloma syndrome
\Eye / vision finding\Globe finding\Disorder of eye\Disorder of anterior segment of eye\Disorder of lens\Cataract\Microcornea, rod-cone dystrophy, cataract, posterior staphyloma syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye\Anomaly of eye\Lesion of eye\Cataract\Microcornea, rod-cone dystrophy, cataract, posterior staphyloma syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Cataract\Microcornea, rod-cone dystrophy, cataract, posterior staphyloma syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Microcornea, rod-cone dystrophy, cataract, posterior staphyloma syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Retinal disorder\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Microcornea, rod-cone dystrophy, cataract, posterior staphyloma syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Disorder of lens\Cataract\Microcornea, rod-cone dystrophy, cataract, posterior staphyloma syndrome
\Eye / vision finding\Visual system disorder\Hereditary disorder of the visual system\Hereditary retinal dystrophy\Microcornea, rod-cone dystrophy, cataract, posterior staphyloma syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the visual system\Hereditary retinal dystrophy\Microcornea, rod-cone dystrophy, cataract, posterior staphyloma syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Microcornea, rod-cone dystrophy, cataract, posterior staphyloma syndrome
\Disease\Degenerative disorder\Degenerative disorder of eye\Cataract\Microcornea, rod-cone dystrophy, cataract, posterior staphyloma syndrome
\Disease\Degenerative disorder\Degenerative disorder of eye\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Microcornea, rod-cone dystrophy, cataract, posterior staphyloma syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the visual system\Hereditary retinal dystrophy\Microcornea, rod-cone dystrophy, cataract, posterior staphyloma syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye\Anomaly of eye\Lesion of eye\Cataract\Microcornea, rod-cone dystrophy, cataract, posterior staphyloma syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Cataract\Microcornea, rod-cone dystrophy, cataract, posterior staphyloma syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Microcornea, rod-cone dystrophy, cataract, posterior staphyloma syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Retinal disorder\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Microcornea, rod-cone dystrophy, cataract, posterior staphyloma syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Disorder of lens\Cataract\Microcornea, rod-cone dystrophy, cataract, posterior staphyloma syndrome
\Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system\Hereditary retinal dystrophy\Microcornea, rod-cone dystrophy, cataract, posterior staphyloma syndrome
\Disease\Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Lesion of eye\Cataract\Microcornea, rod-cone dystrophy, cataract, posterior staphyloma syndrome
\Disease\Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Cataract\Microcornea, rod-cone dystrophy, cataract, posterior staphyloma syndrome
\Disease\Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Microcornea, rod-cone dystrophy, cataract, posterior staphyloma syndrome
\Disease\Disorder of head\Disorder of eye region\Disorder of eye\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Retinal disorder\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Microcornea, rod-cone dystrophy, cataract, posterior staphyloma syndrome
\Disease\Disorder of head\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Disorder of lens\Cataract\Microcornea, rod-cone dystrophy, cataract, posterior staphyloma syndrome

Status: current, Primitive. 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 Case insensitive SNOMED CT core

3705835018 Microcornea, rod-cone dystrophy, cataract, posterior staphyloma syndrome en Synonym Active Case insensitive SNOMED CT core

3705836017 MRCS syndrome en Synonym Active Case sensitive SNOMED CT core

3705837014 MRCS (microcornea, rod-cone dystrophy, cataract, posterior staphyloma) syndrome en Synonym Active Case sensitive 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 Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Microcornea, rod-cone dystrophy, cataract, posterior staphyloma syndrome	Associated morphology	Abnormally opaque structure	true	Inferred relationship	Some	2
Microcornea, rod-cone dystrophy, cataract, posterior staphyloma syndrome	Associated morphology	Cataract	false	Inferred relationship	Some	2
Microcornea, rod-cone dystrophy, cataract, posterior staphyloma syndrome	Finding site	Retinal structure	true	Inferred relationship	Some	1
Microcornea, rod-cone dystrophy, cataract, posterior staphyloma syndrome	Finding site	Structure of lens of eye	true	Inferred relationship	Some	2
Microcornea, rod-cone dystrophy, cataract, posterior staphyloma syndrome	Is a	Cataract	true	Inferred relationship	Some
Microcornea, rod-cone dystrophy, cataract, posterior staphyloma syndrome	Associated morphology	Dystrophy	true	Inferred relationship	Some	1
Microcornea, rod-cone dystrophy, cataract, posterior staphyloma syndrome	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Microcornea, rod-cone dystrophy, cataract, posterior staphyloma syndrome	Is a	Hereditary retinal dystrophy	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Back to Start

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