193413001: Leber's amaurosis (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\Leber congenital amaurosis
\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\Leber congenital amaurosis
\Finding of head region\Globe finding\Retina finding\Retinal disorder\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Leber congenital amaurosis
\Finding of head region\Globe finding\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Leber congenital amaurosis
\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\Leber congenital amaurosis

\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\Leber congenital amaurosis

\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Retinal disorder\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Leber congenital amaurosis

\Eye / vision finding\Globe finding\Retina finding\Retinal disorder\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Leber congenital amaurosis
\Eye / vision finding\Globe finding\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Leber congenital amaurosis
\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\Leber congenital amaurosis
\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\Leber congenital amaurosis
\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\Leber congenital amaurosis
\Eye / vision finding\Visual system disorder\Hereditary disorder of the visual system\Hereditary retinal dystrophy\Leber congenital amaurosis

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the visual system\Hereditary retinal dystrophy\Leber congenital amaurosis
\Disease\Degenerative disorder\Degenerative disorder of eye\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Leber congenital amaurosis
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the visual system\Hereditary retinal dystrophy\Leber congenital amaurosis
\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\Leber congenital amaurosis
\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\Leber congenital amaurosis
\Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system\Hereditary retinal dystrophy\Leber congenital amaurosis
\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\Leber congenital amaurosis
\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\Leber congenital amaurosis
\Disease\Congenital disease\Leber congenital amaurosis

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

Descriptions:

Id Description Lang Type Status Case? Module

2619480010 Leber congenital amaurosis en Synonym Active Case sensitive SNOMED CT core
2839261016 Leber amaurosis en Synonym Active Case sensitive SNOMED CT core
297841012 Leber's amaurosis en Synonym Active Case sensitive SNOMED CT core
297842017 CRB - Congenital retinal blindness en Synonym Active Case sensitive SNOMED CT core
297843010 Congenital retinal blindness en Synonym Active Case insensitive SNOMED CT core
577300011 Leber's amaurosis (disorder) en Fully specified name Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Leber congenital amaurosis	Is a	Congenital anomaly of eye	false	Inferred relationship	Some
Leber congenital amaurosis	Is a	Retinal disorder	false	Inferred relationship	Some
Leber congenital amaurosis	Occurrence	Congenital	false	Inferred relationship	Some
Leber congenital amaurosis	Is a	Vision problem	false	Inferred relationship	Some
Leber congenital amaurosis	Is a	Disorder of posterior segment of eye	false	Inferred relationship	Some
Leber congenital amaurosis	Is a	Congenital disease	true	Inferred relationship	Some
Leber congenital amaurosis	Finding site	Retinal structure	false	Inferred relationship	Some
Leber congenital amaurosis	Occurrence	Congenital	false	Inferred relationship	Some	1
Leber congenital amaurosis	Finding site	Retinal structure	false	Inferred relationship	Some	1
Leber congenital amaurosis	Is a	Hereditary retinal dystrophy	true	Inferred relationship	Some
Leber congenital amaurosis	Associated morphology	Dystrophy	true	Inferred relationship	Some	2
Leber congenital amaurosis	Occurrence	Congenital	true	Inferred relationship	Some	2
Leber congenital amaurosis	Finding site	Retinal structure	true	Inferred relationship	Some	2

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
X-linked intellectual disability, limb spasticity, retinal dystrophy, diabetes insipidus syndrome	Is a	True	Leber congenital amaurosis	Inferred relationship	Some

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
2619480010	Leber congenital amaurosis	en	Synonym	Active	Case sensitive	SNOMED CT core
2839261016	Leber amaurosis	en	Synonym	Active	Case sensitive	SNOMED CT core
297841012	Leber's amaurosis	en	Synonym	Active	Case sensitive	SNOMED CT core
297842017	CRB - Congenital retinal blindness	en	Synonym	Active	Case sensitive	SNOMED CT core
297843010	Congenital retinal blindness	en	Synonym	Active	Case insensitive	SNOMED CT core
577300011	Leber's amaurosis (disorder)	en	Fully specified name	Active	Case sensitive	SNOMED CT core