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193413001: Leber's amaurosis (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

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

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

Descriptions:

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 (core metadata concept)
Leber's amaurosis	Is a	Disorder of posterior segment of eye	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Leber's amaurosis	Finding site	Retinal structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Leber's amaurosis	Is a	Congenital anomaly of eye	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Leber's amaurosis	Is a	Retinal disorder	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Leber's amaurosis	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Leber's amaurosis	Is a	Congenital disease	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Leber's amaurosis	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Leber's amaurosis	Finding site	Retinal structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Leber's amaurosis	Is a	Hereditary retinal dystrophy (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Leber's amaurosis	Associated morphology	Dystrophy	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Leber's amaurosis	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Leber's amaurosis	Finding site	Retinal structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
X-linked intellectual disability, limb spasticity, retinal dystrophy, arginine vasopressin deficiency (disorder)	Is a	True	Leber's amaurosis	Inferred relationship	Existential restriction modifier (core metadata concept)
Spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual disability, Leber congenital amaurosis syndrome (disorder)	Is a	True	Leber's amaurosis	Inferred relationship	Existential restriction modifier (core metadata concept)

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
297841012	Leber's amaurosis	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
297842017	CRB - Congenital retinal blindness	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
297843010	Congenital retinal blindness	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
577300011	Leber's amaurosis (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
2619480010	Leber congenital amaurosis	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
2839261016	Leber amaurosis	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
297841012	Leber's amaurosis	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
297842017	CRB - Congenital retinal blindness	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
297843010	Congenital retinal blindness	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
297843010	Congenital retinal blindness	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
577300011	Leber's amaurosis (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
577300011	Leber's amaurosis (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
2619480010	Leber congenital amaurosis	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
2619480010	Leber congenital amaurosis	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
2839261016	Leber amaurosis	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
631541000274115	Lebersche kongenitale Amaurose	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3411221001000116	Amaurosis congenita Leber	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
76381000077115	amaurose congénitale de Leber	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
76381000077115	amaurose congénitale de Leber	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
631541000274115	Lebersche kongenitale Amaurose	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3411221001000116	Amaurosis congenita Leber	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module