363343008: Hereditary disorder of the visual system (disorder)

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

\Eye / vision finding\Visual system disorder\Hereditary disorder of the visual system

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the visual system
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the visual system
\Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

482488013 Hereditary disorder of the visual system en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

755157012 Hereditary disorder of the visual system (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

2297211000005113 hereditær sygdom i det visuelle system da Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Danish module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Hereditary disorder of the visual system	Is a	Visual system disorder	true	Inferred relationship	Some
Hereditary disorder of the visual system	Is a	Hereditary disorder by system	true	Inferred relationship	Some
Hereditary disorder of the visual system	Finding site	The eye, ocular adnexa, afferent visual pathways, efferent visual pathways, and pupil innervation pathways	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Familial hypomagnesemia hypercalciuria nephrocalcinosis with severe ocular involvement (disorder)	Is a	True	Hereditary disorder of the visual system	Inferred relationship	Some
A rare ophthalmic disorder characterized by periodic inflammatory attacks of the cornea manifesting as unilateral ocular pain, conjunctival hyperemia, photophobia and epiphora lasting for 1 to 3 days, followed by blurred vision for several weeks. Caused by a heterozygous pathogenic variant c.61G>C, p.(Asp21His) in the NLRP3 gene. The pathogenic variant is highly penetrant (95%). The disease is autosomal dominant.	Is a	True	Hereditary disorder of the visual system	Inferred relationship	Some
A rare multiple congenital anomalies/dysmorphic syndrome characterized by severe intellectual disability, global developmental delay with no speech (some patients may have limited speech), inability or difficulty to walk, microcephaly, and early-onset cataract. Additional clinical features may include hypotonia, spasticity, endocrine/metabolic diseases and immunodeficiency with lymphopenia.	Is a	True	Hereditary disorder of the visual system	Inferred relationship	Some

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