782773005: Lethal arteriopathy syndrome due to fibulin-4 deficiency (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \General finding of soft tissue\Blood vessel finding\Finding of artery\Disorder of artery (disorder)\Arterial malformation\Congenital arterial aneurysm (disorder)\A rare genetic vascular disorder with characteristics of severe aneurysmal dilatation, elongation and tortuosity of the thoracic aorta, its branches and pulmonary arteries with stenosis at various typical locations, typically resulting in infantile demise. Variable associated features may include cutis laxa, long philtrum with thin vermillion border, hypertelorism, sagging cheeks, arachnodactyly, joint laxity and pectus deformities.
• \General finding of soft tissue\Blood vessel finding\Finding of artery\Disorder of artery (disorder)\Arterial aneurysm\Congenital arterial aneurysm (disorder)\A rare genetic vascular disorder with characteristics of severe aneurysmal dilatation, elongation and tortuosity of the thoracic aorta, its branches and pulmonary arteries with stenosis at various typical locations, typically resulting in infantile demise. Variable associated features may include cutis laxa, long philtrum with thin vermillion border, hypertelorism, sagging cheeks, arachnodactyly, joint laxity and pectus deformities.
• \General finding of soft tissue\Blood vessel finding\Finding of artery\Distention of artery\Arterial aneurysm\Congenital arterial aneurysm (disorder)\A rare genetic vascular disorder with characteristics of severe aneurysmal dilatation, elongation and tortuosity of the thoracic aorta, its branches and pulmonary arteries with stenosis at various typical locations, typically resulting in infantile demise. Variable associated features may include cutis laxa, long philtrum with thin vermillion border, hypertelorism, sagging cheeks, arachnodactyly, joint laxity and pectus deformities.
• \General finding of soft tissue\Blood vessel finding\Dilatation of blood vessel\Distention of artery\Arterial aneurysm\Congenital arterial aneurysm (disorder)\A rare genetic vascular disorder with characteristics of severe aneurysmal dilatation, elongation and tortuosity of the thoracic aorta, its branches and pulmonary arteries with stenosis at various typical locations, typically resulting in infantile demise. Variable associated features may include cutis laxa, long philtrum with thin vermillion border, hypertelorism, sagging cheeks, arachnodactyly, joint laxity and pectus deformities.
• \General finding of soft tissue\Blood vessel finding\Disorder of blood vessel (disorder)\Congenital vascular disorder (disorder)\Congenital vascular malformation (disorder)\Arterial malformation\Congenital arterial aneurysm (disorder)\A rare genetic vascular disorder with characteristics of severe aneurysmal dilatation, elongation and tortuosity of the thoracic aorta, its branches and pulmonary arteries with stenosis at various typical locations, typically resulting in infantile demise. Variable associated features may include cutis laxa, long philtrum with thin vermillion border, hypertelorism, sagging cheeks, arachnodactyly, joint laxity and pectus deformities.
• \General finding of soft tissue\Blood vessel finding\Disorder of blood vessel (disorder)\Disorder of artery (disorder)\Arterial malformation\Congenital arterial aneurysm (disorder)\A rare genetic vascular disorder with characteristics of severe aneurysmal dilatation, elongation and tortuosity of the thoracic aorta, its branches and pulmonary arteries with stenosis at various typical locations, typically resulting in infantile demise. Variable associated features may include cutis laxa, long philtrum with thin vermillion border, hypertelorism, sagging cheeks, arachnodactyly, joint laxity and pectus deformities.
• \General finding of soft tissue\Blood vessel finding\Disorder of blood vessel (disorder)\Disorder of artery (disorder)\Arterial aneurysm\Congenital arterial aneurysm (disorder)\A rare genetic vascular disorder with characteristics of severe aneurysmal dilatation, elongation and tortuosity of the thoracic aorta, its branches and pulmonary arteries with stenosis at various typical locations, typically resulting in infantile demise. Variable associated features may include cutis laxa, long philtrum with thin vermillion border, hypertelorism, sagging cheeks, arachnodactyly, joint laxity and pectus deformities.
• \General finding of soft tissue\Disorder of soft tissue\Lesion of soft tissue (disorder)\Arterial aneurysm\Congenital arterial aneurysm (disorder)\A rare genetic vascular disorder with characteristics of severe aneurysmal dilatation, elongation and tortuosity of the thoracic aorta, its branches and pulmonary arteries with stenosis at various typical locations, typically resulting in infantile demise. Variable associated features may include cutis laxa, long philtrum with thin vermillion border, hypertelorism, sagging cheeks, arachnodactyly, joint laxity and pectus deformities.
• \General finding of soft tissue\Disorder of soft tissue\Disorder of blood vessel (disorder)\Congenital vascular disorder (disorder)\Congenital vascular malformation (disorder)\Arterial malformation\Congenital arterial aneurysm (disorder)\A rare genetic vascular disorder with characteristics of severe aneurysmal dilatation, elongation and tortuosity of the thoracic aorta, its branches and pulmonary arteries with stenosis at various typical locations, typically resulting in infantile demise. Variable associated features may include cutis laxa, long philtrum with thin vermillion border, hypertelorism, sagging cheeks, arachnodactyly, joint laxity and pectus deformities.
• \General finding of soft tissue\Disorder of soft tissue\Disorder of blood vessel (disorder)\Disorder of artery (disorder)\Arterial malformation\Congenital arterial aneurysm (disorder)\A rare genetic vascular disorder with characteristics of severe aneurysmal dilatation, elongation and tortuosity of the thoracic aorta, its branches and pulmonary arteries with stenosis at various typical locations, typically resulting in infantile demise. Variable associated features may include cutis laxa, long philtrum with thin vermillion border, hypertelorism, sagging cheeks, arachnodactyly, joint laxity and pectus deformities.
• \General finding of soft tissue\Disorder of soft tissue\Disorder of blood vessel (disorder)\Disorder of artery (disorder)\Arterial aneurysm\Congenital arterial aneurysm (disorder)\A rare genetic vascular disorder with characteristics of severe aneurysmal dilatation, elongation and tortuosity of the thoracic aorta, its branches and pulmonary arteries with stenosis at various typical locations, typically resulting in infantile demise. Variable associated features may include cutis laxa, long philtrum with thin vermillion border, hypertelorism, sagging cheeks, arachnodactyly, joint laxity and pectus deformities.
• \Cardiovascular finding (finding)\Disorder of cardiovascular system (disorder)\Congenital cardiovascular disorder (disorder)\Congenital vascular disorder (disorder)\Congenital vascular malformation (disorder)\Arterial malformation\Congenital arterial aneurysm (disorder)\A rare genetic vascular disorder with characteristics of severe aneurysmal dilatation, elongation and tortuosity of the thoracic aorta, its branches and pulmonary arteries with stenosis at various typical locations, typically resulting in infantile demise. Variable associated features may include cutis laxa, long philtrum with thin vermillion border, hypertelorism, sagging cheeks, arachnodactyly, joint laxity and pectus deformities.
• \Cardiovascular finding (finding)\Disorder of cardiovascular system (disorder)\Congenital cardiovascular disorder (disorder)\Congenital anomaly of cardiovascular system\Congenital vascular malformation (disorder)\Arterial malformation\Congenital arterial aneurysm (disorder)\A rare genetic vascular disorder with characteristics of severe aneurysmal dilatation, elongation and tortuosity of the thoracic aorta, its branches and pulmonary arteries with stenosis at various typical locations, typically resulting in infantile demise. Variable associated features may include cutis laxa, long philtrum with thin vermillion border, hypertelorism, sagging cheeks, arachnodactyly, joint laxity and pectus deformities.
• \Cardiovascular finding (finding)\Disorder of cardiovascular system (disorder)\Aneurysm (disorder)\Arterial aneurysm\Congenital arterial aneurysm (disorder)\A rare genetic vascular disorder with characteristics of severe aneurysmal dilatation, elongation and tortuosity of the thoracic aorta, its branches and pulmonary arteries with stenosis at various typical locations, typically resulting in infantile demise. Variable associated features may include cutis laxa, long philtrum with thin vermillion border, hypertelorism, sagging cheeks, arachnodactyly, joint laxity and pectus deformities.
• \Cardiovascular finding (finding)\Disorder of cardiovascular system (disorder)\Cardiovascular system hereditary disorder\A rare genetic vascular disorder with characteristics of severe aneurysmal dilatation, elongation and tortuosity of the thoracic aorta, its branches and pulmonary arteries with stenosis at various typical locations, typically resulting in infantile demise. Variable associated features may include cutis laxa, long philtrum with thin vermillion border, hypertelorism, sagging cheeks, arachnodactyly, joint laxity and pectus deformities.
• \Cardiovascular finding (finding)\Disorder of cardiovascular system (disorder)\Disorder of blood vessel (disorder)\Congenital vascular disorder (disorder)\Congenital vascular malformation (disorder)\Arterial malformation\Congenital arterial aneurysm (disorder)\A rare genetic vascular disorder with characteristics of severe aneurysmal dilatation, elongation and tortuosity of the thoracic aorta, its branches and pulmonary arteries with stenosis at various typical locations, typically resulting in infantile demise. Variable associated features may include cutis laxa, long philtrum with thin vermillion border, hypertelorism, sagging cheeks, arachnodactyly, joint laxity and pectus deformities.
• \Cardiovascular finding (finding)\Disorder of cardiovascular system (disorder)\Disorder of blood vessel (disorder)\Disorder of artery (disorder)\Arterial malformation\Congenital arterial aneurysm (disorder)\A rare genetic vascular disorder with characteristics of severe aneurysmal dilatation, elongation and tortuosity of the thoracic aorta, its branches and pulmonary arteries with stenosis at various typical locations, typically resulting in infantile demise. Variable associated features may include cutis laxa, long philtrum with thin vermillion border, hypertelorism, sagging cheeks, arachnodactyly, joint laxity and pectus deformities.
• \Cardiovascular finding (finding)\Disorder of cardiovascular system (disorder)\Disorder of blood vessel (disorder)\Disorder of artery (disorder)\Arterial aneurysm\Congenital arterial aneurysm (disorder)\A rare genetic vascular disorder with characteristics of severe aneurysmal dilatation, elongation and tortuosity of the thoracic aorta, its branches and pulmonary arteries with stenosis at various typical locations, typically resulting in infantile demise. Variable associated features may include cutis laxa, long philtrum with thin vermillion border, hypertelorism, sagging cheeks, arachnodactyly, joint laxity and pectus deformities.
• \Cardiovascular finding (finding)\Blood vessel finding\Finding of artery\Disorder of artery (disorder)\Arterial malformation\Congenital arterial aneurysm (disorder)\A rare genetic vascular disorder with characteristics of severe aneurysmal dilatation, elongation and tortuosity of the thoracic aorta, its branches and pulmonary arteries with stenosis at various typical locations, typically resulting in infantile demise. Variable associated features may include cutis laxa, long philtrum with thin vermillion border, hypertelorism, sagging cheeks, arachnodactyly, joint laxity and pectus deformities.
• \Cardiovascular finding (finding)\Blood vessel finding\Finding of artery\Disorder of artery (disorder)\Arterial aneurysm\Congenital arterial aneurysm (disorder)\A rare genetic vascular disorder with characteristics of severe aneurysmal dilatation, elongation and tortuosity of the thoracic aorta, its branches and pulmonary arteries with stenosis at various typical locations, typically resulting in infantile demise. Variable associated features may include cutis laxa, long philtrum with thin vermillion border, hypertelorism, sagging cheeks, arachnodactyly, joint laxity and pectus deformities.
• \Cardiovascular finding (finding)\Blood vessel finding\Finding of artery\Distention of artery\Arterial aneurysm\Congenital arterial aneurysm (disorder)\A rare genetic vascular disorder with characteristics of severe aneurysmal dilatation, elongation and tortuosity of the thoracic aorta, its branches and pulmonary arteries with stenosis at various typical locations, typically resulting in infantile demise. Variable associated features may include cutis laxa, long philtrum with thin vermillion border, hypertelorism, sagging cheeks, arachnodactyly, joint laxity and pectus deformities.
• \Cardiovascular finding (finding)\Blood vessel finding\Dilatation of blood vessel\Distention of artery\Arterial aneurysm\Congenital arterial aneurysm (disorder)\A rare genetic vascular disorder with characteristics of severe aneurysmal dilatation, elongation and tortuosity of the thoracic aorta, its branches and pulmonary arteries with stenosis at various typical locations, typically resulting in infantile demise. Variable associated features may include cutis laxa, long philtrum with thin vermillion border, hypertelorism, sagging cheeks, arachnodactyly, joint laxity and pectus deformities.
• \Cardiovascular finding (finding)\Blood vessel finding\Disorder of blood vessel (disorder)\Congenital vascular disorder (disorder)\Congenital vascular malformation (disorder)\Arterial malformation\Congenital arterial aneurysm (disorder)\A rare genetic vascular disorder with characteristics of severe aneurysmal dilatation, elongation and tortuosity of the thoracic aorta, its branches and pulmonary arteries with stenosis at various typical locations, typically resulting in infantile demise. Variable associated features may include cutis laxa, long philtrum with thin vermillion border, hypertelorism, sagging cheeks, arachnodactyly, joint laxity and pectus deformities.
• \Cardiovascular finding (finding)\Blood vessel finding\Disorder of blood vessel (disorder)\Disorder of artery (disorder)\Arterial malformation\Congenital arterial aneurysm (disorder)\A rare genetic vascular disorder with characteristics of severe aneurysmal dilatation, elongation and tortuosity of the thoracic aorta, its branches and pulmonary arteries with stenosis at various typical locations, typically resulting in infantile demise. Variable associated features may include cutis laxa, long philtrum with thin vermillion border, hypertelorism, sagging cheeks, arachnodactyly, joint laxity and pectus deformities.
• \Cardiovascular finding (finding)\Blood vessel finding\Disorder of blood vessel (disorder)\Disorder of artery (disorder)\Arterial aneurysm\Congenital arterial aneurysm (disorder)\A rare genetic vascular disorder with characteristics of severe aneurysmal dilatation, elongation and tortuosity of the thoracic aorta, its branches and pulmonary arteries with stenosis at various typical locations, typically resulting in infantile demise. Variable associated features may include cutis laxa, long philtrum with thin vermillion border, hypertelorism, sagging cheeks, arachnodactyly, joint laxity and pectus deformities.
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Cardiovascular system hereditary disorder\A rare genetic vascular disorder with characteristics of severe aneurysmal dilatation, elongation and tortuosity of the thoracic aorta, its branches and pulmonary arteries with stenosis at various typical locations, typically resulting in infantile demise. Variable associated features may include cutis laxa, long philtrum with thin vermillion border, hypertelorism, sagging cheeks, arachnodactyly, joint laxity and pectus deformities.
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\A rare genetic vascular disorder with characteristics of severe aneurysmal dilatation, elongation and tortuosity of the thoracic aorta, its branches and pulmonary arteries with stenosis at various typical locations, typically resulting in infantile demise. Variable associated features may include cutis laxa, long philtrum with thin vermillion border, hypertelorism, sagging cheeks, arachnodactyly, joint laxity and pectus deformities.
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\A rare genetic vascular disorder with characteristics of severe aneurysmal dilatation, elongation and tortuosity of the thoracic aorta, its branches and pulmonary arteries with stenosis at various typical locations, typically resulting in infantile demise. Variable associated features may include cutis laxa, long philtrum with thin vermillion border, hypertelorism, sagging cheeks, arachnodactyly, joint laxity and pectus deformities.
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital cardiovascular disorder (disorder)\Congenital vascular disorder (disorder)\Congenital vascular malformation (disorder)\Arterial malformation\Congenital arterial aneurysm (disorder)\A rare genetic vascular disorder with characteristics of severe aneurysmal dilatation, elongation and tortuosity of the thoracic aorta, its branches and pulmonary arteries with stenosis at various typical locations, typically resulting in infantile demise. Variable associated features may include cutis laxa, long philtrum with thin vermillion border, hypertelorism, sagging cheeks, arachnodactyly, joint laxity and pectus deformities.
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital cardiovascular disorder (disorder)\Congenital anomaly of cardiovascular system\Congenital vascular malformation (disorder)\Arterial malformation\Congenital arterial aneurysm (disorder)\A rare genetic vascular disorder with characteristics of severe aneurysmal dilatation, elongation and tortuosity of the thoracic aorta, its branches and pulmonary arteries with stenosis at various typical locations, typically resulting in infantile demise. Variable associated features may include cutis laxa, long philtrum with thin vermillion border, hypertelorism, sagging cheeks, arachnodactyly, joint laxity and pectus deformities.
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of cardiovascular system\Congenital vascular malformation (disorder)\Arterial malformation\Congenital arterial aneurysm (disorder)\A rare genetic vascular disorder with characteristics of severe aneurysmal dilatation, elongation and tortuosity of the thoracic aorta, its branches and pulmonary arteries with stenosis at various typical locations, typically resulting in infantile demise. Variable associated features may include cutis laxa, long philtrum with thin vermillion border, hypertelorism, sagging cheeks, arachnodactyly, joint laxity and pectus deformities.
• \Disease\Disorder of body system\Hereditary disorder by system\Cardiovascular system hereditary disorder\A rare genetic vascular disorder with characteristics of severe aneurysmal dilatation, elongation and tortuosity of the thoracic aorta, its branches and pulmonary arteries with stenosis at various typical locations, typically resulting in infantile demise. Variable associated features may include cutis laxa, long philtrum with thin vermillion border, hypertelorism, sagging cheeks, arachnodactyly, joint laxity and pectus deformities.
• \Disease\Disorder of body system\Disorder of cardiovascular system (disorder)\Congenital cardiovascular disorder (disorder)\Congenital vascular disorder (disorder)\Congenital vascular malformation (disorder)\Arterial malformation\Congenital arterial aneurysm (disorder)\A rare genetic vascular disorder with characteristics of severe aneurysmal dilatation, elongation and tortuosity of the thoracic aorta, its branches and pulmonary arteries with stenosis at various typical locations, typically resulting in infantile demise. Variable associated features may include cutis laxa, long philtrum with thin vermillion border, hypertelorism, sagging cheeks, arachnodactyly, joint laxity and pectus deformities.
• \Disease\Disorder of body system\Disorder of cardiovascular system (disorder)\Congenital cardiovascular disorder (disorder)\Congenital anomaly of cardiovascular system\Congenital vascular malformation (disorder)\Arterial malformation\Congenital arterial aneurysm (disorder)\A rare genetic vascular disorder with characteristics of severe aneurysmal dilatation, elongation and tortuosity of the thoracic aorta, its branches and pulmonary arteries with stenosis at various typical locations, typically resulting in infantile demise. Variable associated features may include cutis laxa, long philtrum with thin vermillion border, hypertelorism, sagging cheeks, arachnodactyly, joint laxity and pectus deformities.
• \Disease\Disorder of body system\Disorder of cardiovascular system (disorder)\Aneurysm (disorder)\Arterial aneurysm\Congenital arterial aneurysm (disorder)\A rare genetic vascular disorder with characteristics of severe aneurysmal dilatation, elongation and tortuosity of the thoracic aorta, its branches and pulmonary arteries with stenosis at various typical locations, typically resulting in infantile demise. Variable associated features may include cutis laxa, long philtrum with thin vermillion border, hypertelorism, sagging cheeks, arachnodactyly, joint laxity and pectus deformities.
• \Disease\Disorder of body system\Disorder of cardiovascular system (disorder)\Cardiovascular system hereditary disorder\A rare genetic vascular disorder with characteristics of severe aneurysmal dilatation, elongation and tortuosity of the thoracic aorta, its branches and pulmonary arteries with stenosis at various typical locations, typically resulting in infantile demise. Variable associated features may include cutis laxa, long philtrum with thin vermillion border, hypertelorism, sagging cheeks, arachnodactyly, joint laxity and pectus deformities.
• \Disease\Disorder of body system\Disorder of cardiovascular system (disorder)\Disorder of blood vessel (disorder)\Congenital vascular disorder (disorder)\Congenital vascular malformation (disorder)\Arterial malformation\Congenital arterial aneurysm (disorder)\A rare genetic vascular disorder with characteristics of severe aneurysmal dilatation, elongation and tortuosity of the thoracic aorta, its branches and pulmonary arteries with stenosis at various typical locations, typically resulting in infantile demise. Variable associated features may include cutis laxa, long philtrum with thin vermillion border, hypertelorism, sagging cheeks, arachnodactyly, joint laxity and pectus deformities.
• \Disease\Disorder of body system\Disorder of cardiovascular system (disorder)\Disorder of blood vessel (disorder)\Disorder of artery (disorder)\Arterial malformation\Congenital arterial aneurysm (disorder)\A rare genetic vascular disorder with characteristics of severe aneurysmal dilatation, elongation and tortuosity of the thoracic aorta, its branches and pulmonary arteries with stenosis at various typical locations, typically resulting in infantile demise. Variable associated features may include cutis laxa, long philtrum with thin vermillion border, hypertelorism, sagging cheeks, arachnodactyly, joint laxity and pectus deformities.
• \Disease\Disorder of body system\Disorder of cardiovascular system (disorder)\Disorder of blood vessel (disorder)\Disorder of artery (disorder)\Arterial aneurysm\Congenital arterial aneurysm (disorder)\A rare genetic vascular disorder with characteristics of severe aneurysmal dilatation, elongation and tortuosity of the thoracic aorta, its branches and pulmonary arteries with stenosis at various typical locations, typically resulting in infantile demise. Variable associated features may include cutis laxa, long philtrum with thin vermillion border, hypertelorism, sagging cheeks, arachnodactyly, joint laxity and pectus deformities.
• \Disease\Disorder of soft tissue\Lesion of soft tissue (disorder)\Arterial aneurysm\Congenital arterial aneurysm (disorder)\A rare genetic vascular disorder with characteristics of severe aneurysmal dilatation, elongation and tortuosity of the thoracic aorta, its branches and pulmonary arteries with stenosis at various typical locations, typically resulting in infantile demise. Variable associated features may include cutis laxa, long philtrum with thin vermillion border, hypertelorism, sagging cheeks, arachnodactyly, joint laxity and pectus deformities.
• \Disease\Disorder of soft tissue\Disorder of blood vessel (disorder)\Congenital vascular disorder (disorder)\Congenital vascular malformation (disorder)\Arterial malformation\Congenital arterial aneurysm (disorder)\A rare genetic vascular disorder with characteristics of severe aneurysmal dilatation, elongation and tortuosity of the thoracic aorta, its branches and pulmonary arteries with stenosis at various typical locations, typically resulting in infantile demise. Variable associated features may include cutis laxa, long philtrum with thin vermillion border, hypertelorism, sagging cheeks, arachnodactyly, joint laxity and pectus deformities.
• \Disease\Disorder of soft tissue\Disorder of blood vessel (disorder)\Disorder of artery (disorder)\Arterial malformation\Congenital arterial aneurysm (disorder)\A rare genetic vascular disorder with characteristics of severe aneurysmal dilatation, elongation and tortuosity of the thoracic aorta, its branches and pulmonary arteries with stenosis at various typical locations, typically resulting in infantile demise. Variable associated features may include cutis laxa, long philtrum with thin vermillion border, hypertelorism, sagging cheeks, arachnodactyly, joint laxity and pectus deformities.
• \Disease\Disorder of soft tissue\Disorder of blood vessel (disorder)\Disorder of artery (disorder)\Arterial aneurysm\Congenital arterial aneurysm (disorder)\A rare genetic vascular disorder with characteristics of severe aneurysmal dilatation, elongation and tortuosity of the thoracic aorta, its branches and pulmonary arteries with stenosis at various typical locations, typically resulting in infantile demise. Variable associated features may include cutis laxa, long philtrum with thin vermillion border, hypertelorism, sagging cheeks, arachnodactyly, joint laxity and pectus deformities.
• \Disease\Developmental disorder\Developmental hereditary disorder\A rare genetic vascular disorder with characteristics of severe aneurysmal dilatation, elongation and tortuosity of the thoracic aorta, its branches and pulmonary arteries with stenosis at various typical locations, typically resulting in infantile demise. Variable associated features may include cutis laxa, long philtrum with thin vermillion border, hypertelorism, sagging cheeks, arachnodactyly, joint laxity and pectus deformities.
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of cardiovascular system\Congenital vascular malformation (disorder)\Arterial malformation\Congenital arterial aneurysm (disorder)\A rare genetic vascular disorder with characteristics of severe aneurysmal dilatation, elongation and tortuosity of the thoracic aorta, its branches and pulmonary arteries with stenosis at various typical locations, typically resulting in infantile demise. Variable associated features may include cutis laxa, long philtrum with thin vermillion border, hypertelorism, sagging cheeks, arachnodactyly, joint laxity and pectus deformities.

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
3755719014	A rare genetic vascular disorder with characteristics of severe aneurysmal dilatation, elongation and tortuosity of the thoracic aorta, its branches and pulmonary arteries with stenosis at various typical locations, typically resulting in infantile demise. Variable associated features may include cutis laxa, long philtrum with thin vermillion border, hypertelorism, sagging cheeks, arachnodactyly, joint laxity and pectus deformities.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3755717011	Lethal arteriopathy syndrome due to fibulin-4 deficiency (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3755718018	Lethal arteriopathy syndrome due to fibulin-4 deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

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