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

• SNOMED CT Concept\Clinical finding\...
• \General finding of soft tissue\Blood vessel finding\Arterial finding\Disorder of artery\Congenital anomaly of artery\Congenital arterial aneurysm\Lethal arteriopathy syndrome due to fibulin-4 deficiency
• \General finding of soft tissue\Blood vessel finding\Arterial finding\Disorder of artery\Arterial aneurysm\Congenital arterial aneurysm\Lethal arteriopathy syndrome due to fibulin-4 deficiency
• \General finding of soft tissue\Blood vessel finding\Arterial finding\Distention of artery\Arterial aneurysm\Congenital arterial aneurysm\Lethal arteriopathy syndrome due to fibulin-4 deficiency
• \General finding of soft tissue\Blood vessel finding\Dilatation of blood vessel\Distention of artery\Arterial aneurysm\Congenital arterial aneurysm\Lethal arteriopathy syndrome due to fibulin-4 deficiency
• \General finding of soft tissue\Blood vessel finding\Vascular disorder\Congenital vascular disorder\Congenital vascular malformation\Congenital anomaly of artery\Congenital arterial aneurysm\Lethal arteriopathy syndrome due to fibulin-4 deficiency
• \General finding of soft tissue\Blood vessel finding\Vascular disorder\Disorder of artery\Congenital anomaly of artery\Congenital arterial aneurysm\Lethal arteriopathy syndrome due to fibulin-4 deficiency
• \General finding of soft tissue\Blood vessel finding\Vascular disorder\Disorder of artery\Arterial aneurysm\Congenital arterial aneurysm\Lethal arteriopathy syndrome due to fibulin-4 deficiency
• \General finding of soft tissue\Disorder of soft tissue\Soft tissue lesion\Arterial aneurysm\Congenital arterial aneurysm\Lethal arteriopathy syndrome due to fibulin-4 deficiency
• \General finding of soft tissue\Disorder of soft tissue\Vascular disorder\Congenital vascular disorder\Congenital vascular malformation\Congenital anomaly of artery\Congenital arterial aneurysm\Lethal arteriopathy syndrome due to fibulin-4 deficiency
• \General finding of soft tissue\Disorder of soft tissue\Vascular disorder\Disorder of artery\Congenital anomaly of artery\Congenital arterial aneurysm\Lethal arteriopathy syndrome due to fibulin-4 deficiency
• \General finding of soft tissue\Disorder of soft tissue\Vascular disorder\Disorder of artery\Arterial aneurysm\Congenital arterial aneurysm\Lethal arteriopathy syndrome due to fibulin-4 deficiency
• \Cardiovascular finding\Cardiovascular disease\Congenital cardiovascular disorder\Congenital vascular disorder\Congenital vascular malformation\Congenital anomaly of artery\Congenital arterial aneurysm\Lethal arteriopathy syndrome due to fibulin-4 deficiency
• \Cardiovascular finding\Cardiovascular disease\Congenital cardiovascular disorder\Congenital anomaly of cardiovascular system\Congenital vascular malformation\Congenital anomaly of artery\Congenital arterial aneurysm\Lethal arteriopathy syndrome due to fibulin-4 deficiency
• \Cardiovascular finding\Cardiovascular disease\Aneurysm\Arterial aneurysm\Congenital arterial aneurysm\Lethal arteriopathy syndrome due to fibulin-4 deficiency
• \Cardiovascular finding\Cardiovascular disease\Cardiovascular system hereditary disorder\Lethal arteriopathy syndrome due to fibulin-4 deficiency
• \Cardiovascular finding\Cardiovascular disease\Vascular disorder\Congenital vascular disorder\Congenital vascular malformation\Congenital anomaly of artery\Congenital arterial aneurysm\Lethal arteriopathy syndrome due to fibulin-4 deficiency
• \Cardiovascular finding\Cardiovascular disease\Vascular disorder\Disorder of artery\Congenital anomaly of artery\Congenital arterial aneurysm\Lethal arteriopathy syndrome due to fibulin-4 deficiency
• \Cardiovascular finding\Cardiovascular disease\Vascular disorder\Disorder of artery\Arterial aneurysm\Congenital arterial aneurysm\Lethal arteriopathy syndrome due to fibulin-4 deficiency
• \Cardiovascular finding\Blood vessel finding\Arterial finding\Disorder of artery\Congenital anomaly of artery\Congenital arterial aneurysm\Lethal arteriopathy syndrome due to fibulin-4 deficiency
• \Cardiovascular finding\Blood vessel finding\Arterial finding\Disorder of artery\Arterial aneurysm\Congenital arterial aneurysm\Lethal arteriopathy syndrome due to fibulin-4 deficiency
• \Cardiovascular finding\Blood vessel finding\Arterial finding\Distention of artery\Arterial aneurysm\Congenital arterial aneurysm\Lethal arteriopathy syndrome due to fibulin-4 deficiency
• \Cardiovascular finding\Blood vessel finding\Dilatation of blood vessel\Distention of artery\Arterial aneurysm\Congenital arterial aneurysm\Lethal arteriopathy syndrome due to fibulin-4 deficiency
• \Cardiovascular finding\Blood vessel finding\Vascular disorder\Congenital vascular disorder\Congenital vascular malformation\Congenital anomaly of artery\Congenital arterial aneurysm\Lethal arteriopathy syndrome due to fibulin-4 deficiency
• \Cardiovascular finding\Blood vessel finding\Vascular disorder\Disorder of artery\Congenital anomaly of artery\Congenital arterial aneurysm\Lethal arteriopathy syndrome due to fibulin-4 deficiency
• \Cardiovascular finding\Blood vessel finding\Vascular disorder\Disorder of artery\Arterial aneurysm\Congenital arterial aneurysm\Lethal arteriopathy syndrome due to fibulin-4 deficiency
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Cardiovascular system hereditary disorder\Lethal arteriopathy syndrome due to fibulin-4 deficiency
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Lethal arteriopathy syndrome due to fibulin-4 deficiency
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Lethal arteriopathy syndrome due to fibulin-4 deficiency
• \Disease\Disorder of body system\Hereditary disorder by system\Cardiovascular system hereditary disorder\Lethal arteriopathy syndrome due to fibulin-4 deficiency
• \Disease\Disorder of body system\Cardiovascular disease\Congenital cardiovascular disorder\Congenital vascular disorder\Congenital vascular malformation\Congenital anomaly of artery\Congenital arterial aneurysm\Lethal arteriopathy syndrome due to fibulin-4 deficiency
• \Disease\Disorder of body system\Cardiovascular disease\Congenital cardiovascular disorder\Congenital anomaly of cardiovascular system\Congenital vascular malformation\Congenital anomaly of artery\Congenital arterial aneurysm\Lethal arteriopathy syndrome due to fibulin-4 deficiency
• \Disease\Disorder of body system\Cardiovascular disease\Aneurysm\Arterial aneurysm\Congenital arterial aneurysm\Lethal arteriopathy syndrome due to fibulin-4 deficiency
• \Disease\Disorder of body system\Cardiovascular disease\Cardiovascular system hereditary disorder\Lethal arteriopathy syndrome due to fibulin-4 deficiency
• \Disease\Disorder of body system\Cardiovascular disease\Vascular disorder\Congenital vascular disorder\Congenital vascular malformation\Congenital anomaly of artery\Congenital arterial aneurysm\Lethal arteriopathy syndrome due to fibulin-4 deficiency
• \Disease\Disorder of body system\Cardiovascular disease\Vascular disorder\Disorder of artery\Congenital anomaly of artery\Congenital arterial aneurysm\Lethal arteriopathy syndrome due to fibulin-4 deficiency
• \Disease\Disorder of body system\Cardiovascular disease\Vascular disorder\Disorder of artery\Arterial aneurysm\Congenital arterial aneurysm\Lethal arteriopathy syndrome due to fibulin-4 deficiency
• \Disease\Congenital disease\Congenital cardiovascular disorder\Congenital vascular disorder\Congenital vascular malformation\Congenital anomaly of artery\Congenital arterial aneurysm\Lethal arteriopathy syndrome due to fibulin-4 deficiency
• \Disease\Congenital disease\Congenital cardiovascular disorder\Congenital anomaly of cardiovascular system\Congenital vascular malformation\Congenital anomaly of artery\Congenital arterial aneurysm\Lethal arteriopathy syndrome due to fibulin-4 deficiency
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of cardiovascular system\Congenital vascular malformation\Congenital anomaly of artery\Congenital arterial aneurysm\Lethal arteriopathy syndrome due to fibulin-4 deficiency
• \Disease\Disorder of soft tissue\Soft tissue lesion\Arterial aneurysm\Congenital arterial aneurysm\Lethal arteriopathy syndrome due to fibulin-4 deficiency
• \Disease\Disorder of soft tissue\Vascular disorder\Congenital vascular disorder\Congenital vascular malformation\Congenital anomaly of artery\Congenital arterial aneurysm\Lethal arteriopathy syndrome due to fibulin-4 deficiency
• \Disease\Disorder of soft tissue\Vascular disorder\Disorder of artery\Congenital anomaly of artery\Congenital arterial aneurysm\Lethal arteriopathy syndrome due to fibulin-4 deficiency
• \Disease\Disorder of soft tissue\Vascular disorder\Disorder of artery\Arterial aneurysm\Congenital arterial aneurysm\Lethal arteriopathy syndrome due to fibulin-4 deficiency
• \Disease\Developmental disorder\Developmental hereditary disorder\Lethal arteriopathy syndrome due to fibulin-4 deficiency
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of cardiovascular system\Congenital vascular malformation\Congenital anomaly of artery\Congenital arterial aneurysm\Lethal arteriopathy syndrome due to fibulin-4 deficiency

Status: current, Primitive. Date: 31-Jul 2019. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3755717011	Lethal arteriopathy syndrome due to fibulin-4 deficiency (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3755718018	Lethal arteriopathy syndrome due to fibulin-4 deficiency	en	Synonym	Active	Case insensitive	SNOMED CT core
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	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Cardiovascular finding reference set

Problem/Diagnosis reference set

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