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783787000: vasculopathie rétinienne avec leucoencéphalopathie cérébrale et manifestations systémiques (trouble)


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
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
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
3760374012 RVCL - retinal vasculopathy cerebral leukoencephalopathy en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
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
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
3866555013 RVCL - retinal vasculopathy cerebral leucoencephalopathy en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
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
50012511000188115 vasculopathie rétinienne avec leucoencéphalopathie cérébrale et manifestations systémiques fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
785741000241111 vasculopathie rétinienne avec leucoencéphalopathie cérébrale et manifestations systémiques (trouble) fr Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core 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


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations est un(e) (attribut) Glomerular disease true Inferred relationship Some
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations est un(e) (attribut) Hereditary disorder of the visual system true Inferred relationship Some
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations est un(e) (attribut) Autosomal dominant hereditary disorder true Inferred relationship Some
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations est un(e) (attribut) Hereditary disorder of immune system true Inferred relationship Some
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations est un(e) (attribut) Small vessel cerebrovascular disease (disorder) true Inferred relationship Some
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations est un(e) (attribut) Hereditary disorder of nervous system true Inferred relationship Some
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations est un(e) (attribut) Cardiovascular system hereditary disorder true Inferred relationship Some
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations est un(e) (attribut) Chronic disease of cardiovascular system true Inferred relationship Some
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations est un(e) (attribut) Autoimmune disease true Inferred relationship Some
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations est un(e) (attribut) Chronic brain syndrome true Inferred relationship Some
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations est un(e) (attribut) Disorder of capillaries (disorder) true Inferred relationship Some
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations est un(e) (attribut) leuco-encéphalopathie true Inferred relationship Some
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations est un(e) (attribut) Hereditary nephropathy (disorder) true Inferred relationship Some
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations est un(e) (attribut) Renal vascular disorder true Inferred relationship Some
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations est un(e) (attribut) trouble vasculaire rétinien true Inferred relationship Some
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations est un(e) (attribut) maladie chronique de l'appareil génito-urinaire true Inferred relationship Some
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations est un(e) (attribut) maladie chronique de la fonction immunitaire true Inferred relationship Some
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations localisation d'une constatation (attribut) Structure of blood vessel of retina 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 évolution clinique (attribut) progressif true Inferred relationship Some 1
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations localisation d'une constatation (attribut) Cerebral white matter structure true Inferred relationship Some 5
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations localisation d'une constatation (attribut) structure du système vasculaire cérébral true Inferred relationship Some 2
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations localisation d'une constatation (attribut) Structure of glomerular capillary basement membrane true Inferred relationship Some 4

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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