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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 proper\Anomaly of eye\Degenerative disorder of eye\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Leber's amaurosis
\Finding of head region\Disorder of eye region\Disorder of eye proper\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Retinal disorder\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Leber's amaurosis
\Finding of head region\Globe finding\Retina finding\Retinal disorder\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Leber's amaurosis
\Finding of head region\Globe finding\Disorder of eye proper\Anomaly of eye\Degenerative disorder of eye\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Leber's amaurosis
\Finding of head region\Globe finding\Disorder of eye proper\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Retinal disorder\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Leber's amaurosis

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

\Anomaly of eye\Degenerative disorder of eye\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Leber's 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's amaurosis

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the visual system\Hereditary retinal dystrophy\Leber's amaurosis
\Disease\Degenerative disorder\Degenerative disorder of eye\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Leber's amaurosis
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the visual system\Hereditary retinal dystrophy\Leber's amaurosis
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye proper\Anomaly of eye\Degenerative disorder of eye\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Leber's amaurosis
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye proper\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Retinal disorder\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Leber's amaurosis
\Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system\Hereditary retinal dystrophy\Leber's amaurosis
\Disease\Disorder of head\Disorder of eye region\Disorder of eye proper\Anomaly of eye\Degenerative disorder of eye\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Leber's amaurosis
\Disease\Disorder of head\Disorder of eye region\Disorder of eye proper\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Retinal disorder\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Leber's amaurosis
\Disease\Congenital disease\Leber's amaurosis

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2002. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

297841012 Leber's amaurosis en Synonym Active Entire term case sensitive SNOMED CT core module

297842017 CRB - Congenital retinal blindness en Synonym Active Entire term case sensitive SNOMED CT core module

297843010 Congenital retinal blindness en Synonym Active Entire term case insensitive SNOMED CT core module

577300011 Leber's amaurosis (disorder) en Fully specified name Active Entire term case sensitive SNOMED CT core module

2619480010 Leber congenital amaurosis en Synonym Active Entire term case sensitive SNOMED CT core module

2839261016 Leber amaurosis en Synonym Active Entire term case sensitive SNOMED CT core module

Expanded Value Set

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

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

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
297841012	Leber's amaurosis	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
297842017	CRB - Congenital retinal blindness	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
297843010	Congenital retinal blindness	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
577300011	Leber's amaurosis (disorder)	en	Fully specified name	Active	Entire term case sensitive	SNOMED CT core module
2619480010	Leber congenital amaurosis	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
2839261016	Leber amaurosis	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module