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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)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Leber's amaurosis
\Head finding (finding)\Finding of head region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye (disorder)\Disorder of vitreous body and/or retina (disorder)\Retinal disorder\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Leber's amaurosis
\Head finding (finding)\Finding of head region\Globe finding\Retina finding (finding)\Retinal disorder\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Leber's amaurosis
\Head finding (finding)\Finding of head region\Globe finding\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Leber's amaurosis
\Head finding (finding)\Finding of head region\Globe finding\Disorder of eye proper (disorder)\Disorder of posterior segment of eye (disorder)\Disorder of vitreous body and/or retina (disorder)\Retinal disorder\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Leber's amaurosis
\Head finding (finding)\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Leber's amaurosis
\Head finding (finding)\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye (disorder)\Disorder of vitreous body and/or retina (disorder)\Retinal disorder\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\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	Some
Leber's amaurosis	Is a	Disorder of posterior segment of eye (disorder)	false	Inferred relationship	Some
Leber's amaurosis	Finding site	Retinal structure	false	Inferred relationship	Some
Leber's amaurosis	Is a	Congenital anomaly of eye	false	Inferred relationship	Some
Leber's amaurosis	Is a	Retinal disorder	false	Inferred relationship	Some
Leber's amaurosis	Occurrence	Congenital	false	Inferred relationship	Some
Leber's amaurosis	Is a	Congenital disease	true	Inferred relationship	Some
Leber's amaurosis	Occurrence	Congenital	false	Inferred relationship	Some	1
Leber's amaurosis	Finding site	Retinal structure	false	Inferred relationship	Some	1
Leber's amaurosis	Is a	Hereditary retinal dystrophy	true	Inferred relationship	Some
Leber's amaurosis	Associated morphology	Dystrophy	true	Inferred relationship	Some	2
Leber's amaurosis	Occurrence	Congenital	true	Inferred relationship	Some	2
Leber's 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 rare genetic neurometabolic disease characterized by severe intellectual disability, spastic quadriparesis, Leber congenital amaurosis and diabetes insipidus. Additional manifestations include facial dysmorphy (dolichocephalic skull, hypertelorism, deep-set eyes, hypoplastic nares, low-set ears), short stature, truncal hypotonia and axial hypertonia. Brain anomalies (e.g. thin corpus callosum with lack of isthmus and tapered splenium, hypoplasia or atrophy of the optic chiasm, prominent lateral ventricles, diminished white matter), described on magnetic resonance imaging, have been reported. High prenatal alpha-fetoprotein and intrauterine growth restriction is observed in routine pregnancy examination.	Is a	True	Leber's amaurosis	Inferred relationship	Some
A rare primary bone dysplasia characterised by severe spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual disability and Leber congenital amaurosis. Brain anomalies (including delayed myelinisation, white matter hyperintensity, hypomyelinating leucoencephalopathy, cerebral and cerebellar hypoplasia/atrophy), hypotonia, ataxia, dysmorphic facial features (including deep nasal bridge and large mouth) and irregular dentition were also reported.	Is a	True	Leber's amaurosis	Inferred relationship	Some

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