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764452004: Retinal arterial macroaneurysm with supravalvular pulmonic stenosis (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3649886019 FRAM - familial retinal arterial macroaneurysm en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3649887011 Retinal arterial macroaneurysm with supravalvular pulmonic stenosis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3649888018 RAMSVPS - retinal arterial macroaneurysm with supravalvular pulmonic stenosis en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3649889014 Familial retinal arterial macroaneurysm en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3649890017 Retinal arterial macroaneurysm with supravalvular pulmonic stenosis (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3649615013 Syndrome with characteristics of macroaneurysms of retina which may rupture causing bleeding and loss of vision, in association with supravalvular pulmonic stenosis. The disease is caused by a mutation in the IGFBP7 (insulin-like growth factor-binding protein 7) gene which is active in the vascular endothelium. The IGFBP7 gene mutation results in an abnormally short IGFBP7 protein that does not function properly. 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 arterial macroaneurysm with supravalvular pulmonic stenosis morphologie associée (attribut) Macroaneurysm (morphologic abnormality) true Inferred relationship Some 3
Retinal arterial macroaneurysm with supravalvular pulmonic stenosis est un(e) (attribut) Congenital anomaly of retina (disorder) false Inferred relationship Some
Retinal arterial macroaneurysm with supravalvular pulmonic stenosis est un(e) (attribut) Congenital stenosis of pulmonary artery (disorder) false Inferred relationship Some
Retinal arterial macroaneurysm with supravalvular pulmonic stenosis est un(e) (attribut) Congenital vascular anomaly of eye false Inferred relationship Some
Retinal arterial macroaneurysm with supravalvular pulmonic stenosis Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Retinal arterial macroaneurysm with supravalvular pulmonic stenosis Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Retinal arterial macroaneurysm with supravalvular pulmonic stenosis est un(e) (attribut) Congenital abnormality of pulmonary trunk (disorder) false Inferred relationship Some
Retinal arterial macroaneurysm with supravalvular pulmonic stenosis est un(e) (attribut) Congenital retinal aneurysm true Inferred relationship Some
Retinal arterial macroaneurysm with supravalvular pulmonic stenosis est un(e) (attribut) Developmental hereditary disorder true Inferred relationship Some
Retinal arterial macroaneurysm with supravalvular pulmonic stenosis est un(e) (attribut) Congenital supravalvular pulmonary stenosis (disorder) true Inferred relationship Some
Retinal arterial macroaneurysm with supravalvular pulmonic stenosis est un(e) (attribut) Autosomal recessive hereditary disorder true Inferred relationship Some
Retinal arterial macroaneurysm with supravalvular pulmonic stenosis est un(e) (attribut) Familial disease true Inferred relationship Some
Retinal arterial macroaneurysm with supravalvular pulmonic stenosis est un(e) (attribut) Retinal macroaneurysm true Inferred relationship Some
Retinal arterial macroaneurysm with supravalvular pulmonic stenosis est un(e) (attribut) anévrisme périphérique congénital false Inferred relationship Some
Retinal arterial macroaneurysm with supravalvular pulmonic stenosis est un(e) (attribut) Cardiovascular system hereditary disorder true Inferred relationship Some
Retinal arterial macroaneurysm with supravalvular pulmonic stenosis est un(e) (attribut) Hereditary disorder of the visual system true Inferred relationship Some
Retinal arterial macroaneurysm with supravalvular pulmonic stenosis est un(e) (attribut) Congenital aneurysm of systemic artery (disorder) false Inferred relationship Some
Retinal arterial macroaneurysm with supravalvular pulmonic stenosis localisation d'une constatation (attribut) artère rétinienne (structure corporelle) true Inferred relationship Some 3
Retinal arterial macroaneurysm with supravalvular pulmonic stenosis survenue (attribut) congénital true Inferred relationship Some 2
Retinal arterial macroaneurysm with supravalvular pulmonic stenosis morphologie associée (attribut) Aneurysm true Inferred relationship Some 2
Retinal arterial macroaneurysm with supravalvular pulmonic stenosis localisation d'une constatation (attribut) artère rétinienne (structure corporelle) true Inferred relationship Some 2
Retinal arterial macroaneurysm with supravalvular pulmonic stenosis localisation d'une constatation (attribut) Suprapulmonic valve area structure true Inferred relationship Some 1
Retinal arterial macroaneurysm with supravalvular pulmonic stenosis morphologie associée (attribut) Stenosis (morphologic abnormality) true Inferred relationship Some 1
Retinal arterial macroaneurysm with supravalvular pulmonic stenosis survenue (attribut) congénital true Inferred relationship Some 1

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Canada English language reference set (foundation metadata concept)

GB English

US English

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