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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
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
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
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
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
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
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
Retinal arterial macroaneurysm with supravalvular pulmonic stenosis Is a Congenital supravalvular pulmonary stenosis true Inferred relationship Existential restriction modifier (core metadata concept)
Retinal arterial macroaneurysm with supravalvular pulmonic stenosis Is a Autosomal recessive hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Retinal arterial macroaneurysm with supravalvular pulmonic stenosis Is a Familial disease true Inferred relationship Existential restriction modifier (core metadata concept)
Retinal arterial macroaneurysm with supravalvular pulmonic stenosis Is a Retinal macroaneurysm true Inferred relationship Existential restriction modifier (core metadata concept)
Retinal arterial macroaneurysm with supravalvular pulmonic stenosis Is a Congenital peripheral aneurysm false Inferred relationship Existential restriction modifier (core metadata concept)
Retinal arterial macroaneurysm with supravalvular pulmonic stenosis Is a Cardiovascular system hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Retinal arterial macroaneurysm with supravalvular pulmonic stenosis Is a Hereditary disorder of the visual system (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Retinal arterial macroaneurysm with supravalvular pulmonic stenosis Is a Congenital aneurysm of systemic artery (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
Retinal arterial macroaneurysm with supravalvular pulmonic stenosis Finding site Structure of retinal artery true Inferred relationship Existential restriction modifier (core metadata concept) 3
Retinal arterial macroaneurysm with supravalvular pulmonic stenosis Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 2
Retinal arterial macroaneurysm with supravalvular pulmonic stenosis Associated morphology Aneurysm true Inferred relationship Existential restriction modifier (core metadata concept) 2
Retinal arterial macroaneurysm with supravalvular pulmonic stenosis Finding site Structure of retinal artery true Inferred relationship Existential restriction modifier (core metadata concept) 2
Retinal arterial macroaneurysm with supravalvular pulmonic stenosis Finding site Suprapulmonic valve area structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Retinal arterial macroaneurysm with supravalvular pulmonic stenosis Associated morphology Stenosis true Inferred relationship Existential restriction modifier (core metadata concept) 1
Retinal arterial macroaneurysm with supravalvular pulmonic stenosis Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Retinal arterial macroaneurysm with supravalvular pulmonic stenosis Associated morphology Macroaneurysm (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Retinal arterial macroaneurysm with supravalvular pulmonic stenosis Is a Congenital anomaly of retina false Inferred relationship Existential restriction modifier (core metadata concept)
Retinal arterial macroaneurysm with supravalvular pulmonic stenosis Is a Congenital stenosis of pulmonary artery (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
Retinal arterial macroaneurysm with supravalvular pulmonic stenosis Is a Congenital vascular anomaly of eye false Inferred relationship Existential restriction modifier (core metadata concept)
Retinal arterial macroaneurysm with supravalvular pulmonic stenosis Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Retinal arterial macroaneurysm with supravalvular pulmonic stenosis Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Retinal arterial macroaneurysm with supravalvular pulmonic stenosis Is a Congenital abnormality of pulmonary trunk (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
Retinal arterial macroaneurysm with supravalvular pulmonic stenosis Is a Congenital retinal aneurysm true Inferred relationship Existential restriction modifier (core metadata concept)
Retinal arterial macroaneurysm with supravalvular pulmonic stenosis Is a Developmental hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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

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