192788009: Retinal dystrophy in cerebroretinal lipidosis (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 dystrophy\Hereditary retinal dystrophy\Hereditary retinal dystrophies in lipidoses\Retinal dystrophy in cerebroretinal lipidosis
\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\Hereditary retinal dystrophies in lipidoses\Retinal dystrophy in cerebroretinal lipidosis
\Finding of head region\Globe finding\Retina finding\Retinal disorder\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Hereditary retinal dystrophies in lipidoses\Retinal dystrophy in cerebroretinal lipidosis
\Finding of head region\Globe finding\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Hereditary retinal dystrophies in lipidoses\Retinal dystrophy in cerebroretinal lipidosis
\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\Hereditary retinal dystrophies in lipidoses\Retinal dystrophy in cerebroretinal lipidosis

\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\Hereditary retinal dystrophies in lipidoses\Retinal dystrophy in cerebroretinal lipidosis

\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Retinal disorder\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Hereditary retinal dystrophies in lipidoses\Retinal dystrophy in cerebroretinal lipidosis

\Eye / vision finding\Globe finding\Retina finding\Retinal disorder\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Hereditary retinal dystrophies in lipidoses\Retinal dystrophy in cerebroretinal lipidosis
\Eye / vision finding\Globe finding\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Hereditary retinal dystrophies in lipidoses\Retinal dystrophy in cerebroretinal lipidosis
\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\Hereditary retinal dystrophies in lipidoses\Retinal dystrophy in cerebroretinal lipidosis
\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\Hereditary retinal dystrophies in lipidoses\Retinal dystrophy in cerebroretinal lipidosis
\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\Hereditary retinal dystrophies in lipidoses\Retinal dystrophy in cerebroretinal lipidosis
\Eye / vision finding\Visual system disorder\Hereditary disorder of the visual system\Hereditary retinal dystrophy\Hereditary retinal dystrophies in lipidoses\Retinal dystrophy in cerebroretinal lipidosis

\Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Storage disease\Disorder of lysosomal enzyme\Lipid storage disease\Retinal dystrophy in cerebroretinal lipidosis
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the visual system\Hereditary retinal dystrophy\Hereditary retinal dystrophies in lipidoses\Retinal dystrophy in cerebroretinal lipidosis
\Disease\Degenerative disorder\Degenerative disorder of eye\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Hereditary retinal dystrophies in lipidoses\Retinal dystrophy in cerebroretinal lipidosis
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the visual system\Hereditary retinal dystrophy\Hereditary retinal dystrophies in lipidoses\Retinal dystrophy in cerebroretinal lipidosis
\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\Hereditary retinal dystrophies in lipidoses\Retinal dystrophy in cerebroretinal lipidosis
\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\Hereditary retinal dystrophies in lipidoses\Retinal dystrophy in cerebroretinal lipidosis
\Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system\Hereditary retinal dystrophy\Hereditary retinal dystrophies in lipidoses\Retinal dystrophy in cerebroretinal lipidosis
\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\Hereditary retinal dystrophies in lipidoses\Retinal dystrophy in cerebroretinal lipidosis
\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\Hereditary retinal dystrophies in lipidoses\Retinal dystrophy in cerebroretinal lipidosis
\Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Storage disease\Disorder of lysosomal enzyme\Lipid storage disease\Retinal dystrophy in cerebroretinal lipidosis
\Disease\Metabolic disease\Enzymopathy\Disorder of lysosomal enzyme\Lipid storage disease\Retinal dystrophy in cerebroretinal lipidosis
\Disease\Metabolic disease\Disorder of lipoprotein AND/OR lipid metabolism\Disorder of lipid storage and metabolism\Lipid storage disease\Retinal dystrophy in cerebroretinal lipidosis
\Disease\Congenital disease\Inborn error of metabolism\Storage disease\Disorder of lysosomal enzyme\Lipid storage disease\Retinal dystrophy in cerebroretinal lipidosis

Status: current, Primitive. Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

296987011 Retinal dystrophy in cerebroretinal lipidosis en Synonym Active Case insensitive SNOMED CT core

576607012 Retinal dystrophy in cerebroretinal lipidosis (disorder) en Fully specified name Active Case insensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Retinal dystrophy in cerebroretinal lipidosis	Is a	Congenital anomaly of eye	false	Inferred relationship	Some
Retinal dystrophy in cerebroretinal lipidosis	Is a	Congenital anomaly of head	false	Inferred relationship	Some
Retinal dystrophy in cerebroretinal lipidosis	Is a	Hereditary retinal dystrophies in lipidoses	true	Inferred relationship	Some
Retinal dystrophy in cerebroretinal lipidosis	Is a	Lipid storage disease	true	Inferred relationship	Some
Retinal dystrophy in cerebroretinal lipidosis	Associated morphology	Dystrophy	true	Inferred relationship	Some	1
Retinal dystrophy in cerebroretinal lipidosis	Finding site	Retinal structure	true	Inferred relationship	Some	1
Retinal dystrophy in cerebroretinal lipidosis	Finding site	Retinal structure	false	Inferred relationship	Some
Retinal dystrophy in cerebroretinal lipidosis	Occurrence	Congenital	true	Inferred relationship	Some	2

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
296987011	Retinal dystrophy in cerebroretinal lipidosis	en	Synonym	Active	Case insensitive	SNOMED CT core
576607012	Retinal dystrophy in cerebroretinal lipidosis (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core