723503006: Retinal degeneration, nanophthalmos, glaucoma 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\Degenerative disorder of eye\Degeneration of retina\Retinal degeneration, nanophthalmos, glaucoma syndrome
\Finding of head region\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Retinal degeneration, nanophthalmos, glaucoma syndrome
\Finding of head region\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Microphthalmos\Nanophthalmia\Retinal degeneration, nanophthalmos, glaucoma 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 degeneration, nanophthalmos, glaucoma 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\Congenital anomaly of retina\Retinal degeneration, nanophthalmos, glaucoma syndrome
\Finding of head region\Disorder of eye region\Disorder of eye\Disorder of posterior segment of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Retinal degeneration, nanophthalmos, glaucoma syndrome
\Finding of head region\Disorder of eye region\Disorder of eye\Glaucoma\Congenital glaucoma\Retinal degeneration, nanophthalmos, glaucoma syndrome
\Finding of head region\Globe finding\Retina finding\Retinal disorder\Degeneration of retina\Retinal degeneration, nanophthalmos, glaucoma syndrome
\Finding of head region\Globe finding\Retina finding\Retinal disorder\Congenital anomaly of retina\Retinal degeneration, nanophthalmos, glaucoma syndrome
\Finding of head region\Globe finding\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Degeneration of retina\Retinal degeneration, nanophthalmos, glaucoma syndrome
\Finding of head region\Globe finding\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Retinal degeneration, nanophthalmos, glaucoma syndrome
\Finding of head region\Globe finding\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Microphthalmos\Nanophthalmia\Retinal degeneration, nanophthalmos, glaucoma 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 degeneration, nanophthalmos, glaucoma 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\Congenital anomaly of retina\Retinal degeneration, nanophthalmos, glaucoma syndrome
\Finding of head region\Globe finding\Disorder of eye\Disorder of posterior segment of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Retinal degeneration, nanophthalmos, glaucoma syndrome
\Finding of head region\Globe finding\Disorder of eye\Glaucoma\Congenital glaucoma\Retinal degeneration, nanophthalmos, glaucoma syndrome

\Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Degeneration of retina\Retinal degeneration, nanophthalmos, glaucoma syndrome
\Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Retinal degeneration, nanophthalmos, glaucoma syndrome
\Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Microphthalmos\Nanophthalmia\Retinal degeneration, nanophthalmos, glaucoma syndrome
\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 degeneration, nanophthalmos, glaucoma syndrome
\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\Congenital anomaly of retina\Retinal degeneration, nanophthalmos, glaucoma syndrome
\Disorder of head\Disorder of eye region\Disorder of eye\Disorder of posterior segment of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Retinal degeneration, nanophthalmos, glaucoma syndrome
\Disorder of head\Disorder of eye region\Disorder of eye\Glaucoma\Congenital glaucoma\Retinal degeneration, nanophthalmos, glaucoma syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Retinal degeneration, nanophthalmos, glaucoma syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of eye\Microphthalmos\Nanophthalmia\Retinal degeneration, nanophthalmos, glaucoma syndrome

\Eye / vision finding\Globe finding\Retina finding\Retinal disorder\Degeneration of retina\Retinal degeneration, nanophthalmos, glaucoma syndrome
\Eye / vision finding\Globe finding\Retina finding\Retinal disorder\Congenital anomaly of retina\Retinal degeneration, nanophthalmos, glaucoma syndrome
\Eye / vision finding\Globe finding\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Degeneration of retina\Retinal degeneration, nanophthalmos, glaucoma syndrome
\Eye / vision finding\Globe finding\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Retinal degeneration, nanophthalmos, glaucoma syndrome
\Eye / vision finding\Globe finding\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Microphthalmos\Nanophthalmia\Retinal degeneration, nanophthalmos, glaucoma 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 degeneration, nanophthalmos, glaucoma syndrome
\Eye / vision finding\Globe finding\Disorder of eye\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Retinal disorder\Congenital anomaly of retina\Retinal degeneration, nanophthalmos, glaucoma syndrome
\Eye / vision finding\Globe finding\Disorder of eye\Disorder of posterior segment of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Retinal degeneration, nanophthalmos, glaucoma syndrome
\Eye / vision finding\Globe finding\Disorder of eye\Glaucoma\Congenital glaucoma\Retinal degeneration, nanophthalmos, glaucoma 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 degeneration, nanophthalmos, glaucoma syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Retinal degeneration, nanophthalmos, glaucoma syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Microphthalmos\Nanophthalmia\Retinal degeneration, nanophthalmos, glaucoma 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 degeneration, nanophthalmos, glaucoma 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\Congenital anomaly of retina\Retinal degeneration, nanophthalmos, glaucoma syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye\Disorder of posterior segment of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Retinal degeneration, nanophthalmos, glaucoma syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye\Glaucoma\Congenital glaucoma\Retinal degeneration, nanophthalmos, glaucoma syndrome
\Eye / vision finding\Visual system disorder\Hereditary disorder of the visual system\Retinal degeneration, nanophthalmos, glaucoma syndrome
\Eye / vision finding\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Retinal degeneration, nanophthalmos, glaucoma syndrome
\Eye / vision finding\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of eye\Microphthalmos\Nanophthalmia\Retinal degeneration, nanophthalmos, glaucoma syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the visual system\Retinal degeneration, nanophthalmos, glaucoma syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Retinal degeneration, nanophthalmos, glaucoma syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Retinal degeneration, nanophthalmos, glaucoma syndrome
\Disease\Degenerative disorder\Degenerative disorder of eye\Degeneration of retina\Retinal degeneration, nanophthalmos, glaucoma syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the visual system\Retinal degeneration, nanophthalmos, glaucoma 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 degeneration, nanophthalmos, glaucoma syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Retinal degeneration, nanophthalmos, glaucoma syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Microphthalmos\Nanophthalmia\Retinal degeneration, nanophthalmos, glaucoma 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 degeneration, nanophthalmos, glaucoma 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\Congenital anomaly of retina\Retinal degeneration, nanophthalmos, glaucoma syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye\Disorder of posterior segment of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Retinal degeneration, nanophthalmos, glaucoma syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye\Glaucoma\Congenital glaucoma\Retinal degeneration, nanophthalmos, glaucoma syndrome
\Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system\Retinal degeneration, nanophthalmos, glaucoma syndrome
\Disease\Disorder of body system\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Retinal degeneration, nanophthalmos, glaucoma syndrome
\Disease\Disorder of body system\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of eye\Microphthalmos\Nanophthalmia\Retinal degeneration, nanophthalmos, glaucoma syndrome
\Disease\Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Degeneration of retina\Retinal degeneration, nanophthalmos, glaucoma syndrome
\Disease\Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Retinal degeneration, nanophthalmos, glaucoma syndrome
\Disease\Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Microphthalmos\Nanophthalmia\Retinal degeneration, nanophthalmos, glaucoma 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 degeneration, nanophthalmos, glaucoma 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\Congenital anomaly of retina\Retinal degeneration, nanophthalmos, glaucoma syndrome
\Disease\Disorder of head\Disorder of eye region\Disorder of eye\Disorder of posterior segment of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Retinal degeneration, nanophthalmos, glaucoma syndrome
\Disease\Disorder of head\Disorder of eye region\Disorder of eye\Glaucoma\Congenital glaucoma\Retinal degeneration, nanophthalmos, glaucoma syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Retinal degeneration, nanophthalmos, glaucoma syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of eye\Microphthalmos\Nanophthalmia\Retinal degeneration, nanophthalmos, glaucoma syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Retinal degeneration, nanophthalmos, glaucoma syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of visual system\Congenital anomaly of eye\Microphthalmos\Nanophthalmia\Retinal degeneration, nanophthalmos, glaucoma syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Retinal degeneration, nanophthalmos, glaucoma syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of eye\Microphthalmos\Nanophthalmia\Retinal degeneration, nanophthalmos, glaucoma syndrome
\Disease\Congenital disease\Congenital glaucoma\Retinal degeneration, nanophthalmos, glaucoma syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Retinal degeneration, nanophthalmos, glaucoma syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Retinal degeneration, nanophthalmos, glaucoma syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of visual system\Congenital anomaly of eye\Microphthalmos\Nanophthalmia\Retinal degeneration, nanophthalmos, glaucoma syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Retinal degeneration, nanophthalmos, glaucoma syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of eye\Microphthalmos\Nanophthalmia\Retinal degeneration, nanophthalmos, glaucoma syndrome
\Disease\Developmental disorder\Congenital glaucoma\Retinal degeneration, nanophthalmos, glaucoma syndrome

Status: current, Primitive. Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3424860014 Retinal degeneration, nanophthalmos, glaucoma syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core

3424861013 Retinal degeneration, nanophthalmos, glaucoma syndrome en Synonym Active Case insensitive SNOMED CT core

3424862018 Mackay Shek Carr syndrome en Synonym Active Case sensitive SNOMED CT core

3424863011 Syndrome with characteristics of progressive pigmentary retinal degeneration (with nyctalopia and visual field restriction), cystic macular degeneration and angle closure glaucoma. It has been described in seven members of one family. Patients also have hyperopia and nanophthalmos. The mode of transmission is autosomal recessive. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Retinal degeneration, nanophthalmos, glaucoma syndrome	Associated morphology	Pigmentary degeneration	true	Inferred relationship	Some	1
Retinal degeneration, nanophthalmos, glaucoma syndrome	Finding site	Retinal structure	true	Inferred relationship	Some	1
Retinal degeneration, nanophthalmos, glaucoma syndrome	Is a	Congenital anomaly of retina	true	Inferred relationship	Some
Retinal degeneration, nanophthalmos, glaucoma syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Retinal degeneration, nanophthalmos, glaucoma syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	2
Retinal degeneration, nanophthalmos, glaucoma syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Retinal degeneration, nanophthalmos, glaucoma syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Retinal degeneration, nanophthalmos, glaucoma syndrome	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Retinal degeneration, nanophthalmos, glaucoma syndrome	Is a	Degeneration of retina	true	Inferred relationship	Some
Retinal degeneration, nanophthalmos, glaucoma syndrome	Is a	Congenital glaucoma	true	Inferred relationship	Some
Retinal degeneration, nanophthalmos, glaucoma syndrome	Is a	Hereditary disorder of the visual system	true	Inferred relationship	Some
Retinal degeneration, nanophthalmos, glaucoma syndrome	Is a	Nanophthalmia	true	Inferred relationship	Some
Retinal degeneration, nanophthalmos, glaucoma syndrome	Associated morphology	Congenital smallness	true	Inferred relationship	Some	2
Retinal degeneration, nanophthalmos, glaucoma syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
Retinal degeneration, nanophthalmos, glaucoma syndrome	Finding site	Entire eye	true	Inferred relationship	Some	2
Retinal degeneration, nanophthalmos, glaucoma syndrome	Occurrence	Congenital	false	Inferred relationship	Some	3
Retinal degeneration, nanophthalmos, glaucoma syndrome	Associated morphology	Pigmentary degeneration	false	Inferred relationship	Some	2
Retinal degeneration, nanophthalmos, glaucoma syndrome	Finding site	Retinal structure	false	Inferred relationship	Some	2
Retinal degeneration, nanophthalmos, glaucoma syndrome	Associated morphology	Congenital smallness	false	Inferred relationship	Some	3
Retinal degeneration, nanophthalmos, glaucoma syndrome	Finding site	Entire eye	false	Inferred relationship	Some	3

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Description inactivation indicator reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3424860014	Retinal degeneration, nanophthalmos, glaucoma syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3424861013	Retinal degeneration, nanophthalmos, glaucoma syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3424862018	Mackay Shek Carr syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3424863011	Syndrome with characteristics of progressive pigmentary retinal degeneration (with nyctalopia and visual field restriction), cystic macular degeneration and angle closure glaucoma. It has been described in seven members of one family. Patients also have hyperopia and nanophthalmos. The mode of transmission is autosomal recessive.	en	Definition	Active	Case sensitive	SNOMED CT core