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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
5404292014 A rare, genetic cardiac disease characterized by an early onset of retinal artery macroaneurysms formation and concomitant supravalvular pulmonic stenosis, often requiring surgical correction. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5404293016 A rare, genetic cardiac disease characterised by an early onset of retinal artery macroaneurysms formation and concomitant supravalvular pulmonic stenosis, often requiring surgical correction. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
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
5503421000241111 macroanévrisme artériel de la rétine et sténose pulmonaire supravalvulaire fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
542731000274119 Retinale arterielle Makroaneurysmen - supravalvuläre Pulmonalstenose de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
603601000274110 Arterielle retinale Makroaneurysmen, familiäre Form de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3442581001000115 Makroaneurysmen, arterielle retinale, familiäre Form de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
A rare, genetic cardiac disease characterized by an early onset of retinal artery macroaneurysms formation and concomitant supravalvular pulmonic stenosis, often requiring surgical correction. Is a Congenital supravalvular pulmonary stenosis true Inferred relationship Some
A rare, genetic cardiac disease characterized by an early onset of retinal artery macroaneurysms formation and concomitant supravalvular pulmonic stenosis, often requiring surgical correction. Is a Autosomal recessive hereditary disorder true Inferred relationship Some
A rare, genetic cardiac disease characterized by an early onset of retinal artery macroaneurysms formation and concomitant supravalvular pulmonic stenosis, often requiring surgical correction. Is a Familial disease true Inferred relationship Some
A rare, genetic cardiac disease characterized by an early onset of retinal artery macroaneurysms formation and concomitant supravalvular pulmonic stenosis, often requiring surgical correction. Is a Retinal macroaneurysm true Inferred relationship Some
A rare, genetic cardiac disease characterized by an early onset of retinal artery macroaneurysms formation and concomitant supravalvular pulmonic stenosis, often requiring surgical correction. Is a Congenital peripheral aneurysm false Inferred relationship Some
A rare, genetic cardiac disease characterized by an early onset of retinal artery macroaneurysms formation and concomitant supravalvular pulmonic stenosis, often requiring surgical correction. Is a Cardiovascular system hereditary disorder true Inferred relationship Some
A rare, genetic cardiac disease characterized by an early onset of retinal artery macroaneurysms formation and concomitant supravalvular pulmonic stenosis, often requiring surgical correction. Is a Hereditary disorder of the visual system true Inferred relationship Some
A rare, genetic cardiac disease characterized by an early onset of retinal artery macroaneurysms formation and concomitant supravalvular pulmonic stenosis, often requiring surgical correction. Is a Congenital aneurysm of systemic artery (disorder) false Inferred relationship Some
A rare, genetic cardiac disease characterized by an early onset of retinal artery macroaneurysms formation and concomitant supravalvular pulmonic stenosis, often requiring surgical correction. Finding site Structure of retinal artery true Inferred relationship Some 3
A rare, genetic cardiac disease characterized by an early onset of retinal artery macroaneurysms formation and concomitant supravalvular pulmonic stenosis, often requiring surgical correction. Occurrence Congenital true Inferred relationship Some 2
A rare, genetic cardiac disease characterized by an early onset of retinal artery macroaneurysms formation and concomitant supravalvular pulmonic stenosis, often requiring surgical correction. Associated morphology Aneurysm true Inferred relationship Some 2
A rare, genetic cardiac disease characterized by an early onset of retinal artery macroaneurysms formation and concomitant supravalvular pulmonic stenosis, often requiring surgical correction. Finding site Structure of retinal artery true Inferred relationship Some 2
A rare, genetic cardiac disease characterized by an early onset of retinal artery macroaneurysms formation and concomitant supravalvular pulmonic stenosis, often requiring surgical correction. Finding site Suprapulmonic valve area structure true Inferred relationship Some 1
A rare, genetic cardiac disease characterized by an early onset of retinal artery macroaneurysms formation and concomitant supravalvular pulmonic stenosis, often requiring surgical correction. Associated morphology Stenosis (morphologic abnormality) true Inferred relationship Some 1
A rare, genetic cardiac disease characterized by an early onset of retinal artery macroaneurysms formation and concomitant supravalvular pulmonic stenosis, often requiring surgical correction. Occurrence Congenital true Inferred relationship Some 1
A rare, genetic cardiac disease characterized by an early onset of retinal artery macroaneurysms formation and concomitant supravalvular pulmonic stenosis, often requiring surgical correction. Associated morphology Macroaneurysm (morphologic abnormality) true Inferred relationship Some 3
A rare, genetic cardiac disease characterized by an early onset of retinal artery macroaneurysms formation and concomitant supravalvular pulmonic stenosis, often requiring surgical correction. Is a Congenital anomaly of retina false Inferred relationship Some
A rare, genetic cardiac disease characterized by an early onset of retinal artery macroaneurysms formation and concomitant supravalvular pulmonic stenosis, often requiring surgical correction. Is a Congenital stenosis of pulmonary artery (disorder) false Inferred relationship Some
A rare, genetic cardiac disease characterized by an early onset of retinal artery macroaneurysms formation and concomitant supravalvular pulmonic stenosis, often requiring surgical correction. Is a Congenital vascular anomaly of eye false Inferred relationship Some
A rare, genetic cardiac disease characterized by an early onset of retinal artery macroaneurysms formation and concomitant supravalvular pulmonic stenosis, often requiring surgical correction. Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
A rare, genetic cardiac disease characterized by an early onset of retinal artery macroaneurysms formation and concomitant supravalvular pulmonic stenosis, often requiring surgical correction. Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
A rare, genetic cardiac disease characterized by an early onset of retinal artery macroaneurysms formation and concomitant supravalvular pulmonic stenosis, often requiring surgical correction. Is a Congenital abnormality of pulmonary trunk (disorder) false Inferred relationship Some
A rare, genetic cardiac disease characterized by an early onset of retinal artery macroaneurysms formation and concomitant supravalvular pulmonic stenosis, often requiring surgical correction. Is a Congenital retinal aneurysm (disorder) true Inferred relationship Some
A rare, genetic cardiac disease characterized by an early onset of retinal artery macroaneurysms formation and concomitant supravalvular pulmonic stenosis, often requiring surgical correction. Is a Developmental hereditary disorder true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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