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783787000: Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module Reference Sets
3760372011 Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core US English: Preferred (foundation metadata concept)
3760373018 Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Preferred (foundation metadata concept)
3760374012 RVCL - retinal vasculopathy cerebral leukoencephalopathy en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core US English: Acceptable (foundation metadata concept)
3760375013 RVCL-S - retinal vasculopathy, cerebral leukoencephalopathy, systemic manifestations en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core US English: Acceptable (foundation metadata concept)
3866554012 RVCL-S - retinal vasculopathy, cerebral leucoencephalopathy, systemic manifestations en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core GB English: Acceptable (foundation metadata concept)
3866555013 RVCL - retinal vasculopathy cerebral leucoencephalopathy en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core GB English: Acceptable (foundation metadata concept)
3866556014 Retinal vasculopathy with cerebral leucoencephalopathy and systemic manifestations en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Preferred (foundation metadata concept)
3760376014 An inherited group of small vessel diseases comprised of cerebroretinal vasculopathy (CRV), hereditary vascular retinopathy (HRV) and hereditary endotheliopathy with retinopathy, nephropathy and stroke all exhibiting progressive visual impairment as well as variable cerebral dysfunction. There is evidence the disease is caused by heterozygous mutation in the TREX1 gene on chromosome 3p21. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core GB English: Preferred (foundation metadata concept)
4352941000052118 retinal vaskulopati med cerebral leukoencefalopati och systemiska manifestationer sv Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept) Swedish [International Organization for Standardization 639-1 code sv] language reference set (foundation metadata concept): Preferred (foundation metadata concept)

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations Is a Glomerular disease true Inferred relationship Some
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations Is a Hereditary disorder of the visual system (disorder) true Inferred relationship Some
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations Is a Autosomal dominant hereditary disorder true Inferred relationship Some
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations Is a Hereditary disorder of immune system true Inferred relationship Some
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations Is a Small vessel cerebrovascular disease (disorder) true Inferred relationship Some
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations Is a Hereditary disorder of nervous system true Inferred relationship Some
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations Is a Cardiovascular system hereditary disorder true Inferred relationship Some
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations Is a Chronic disease of cardiovascular system true Inferred relationship Some
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations Is a Autoimmune disease true Inferred relationship Some
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations Is a Chronic brain syndrome true Inferred relationship Some
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations Is a Disorder of capillaries (disorder) true Inferred relationship Some
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations Is a Leukoencephalopathy true Inferred relationship Some
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations Is a Hereditary nephropathy (disorder) true Inferred relationship Some
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations Is a Renal vascular disorder true Inferred relationship Some
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations Is a Retinal vascular disorder (disorder) true Inferred relationship Some
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations Is a Chronic disease of genitourinary system true Inferred relationship Some
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations Is a Chronic disease of immune function (disorder) true Inferred relationship Some
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations Finding site Structure of blood vessel of retina (body structure) true Inferred relationship Some 3
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations Pathological process (attribute) Autoimmune process true Inferred relationship Some 6
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations Clinical course Progressive (qualifier value) true Inferred relationship Some 1
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations Finding site Cerebral white matter structure true Inferred relationship Some 5
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations Finding site Cerebrovascular system structure true Inferred relationship Some 2
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations Finding site Structure of glomerular capillary basement membrane true Inferred relationship Some 4
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

GB English

US English

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