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\Lethal arteriopathy syndrome due to fibulin-4 deficiency (disorder)
\General finding of soft tissue\Blood vessel finding\Finding of artery\Disorder of artery (disorder)\Arterial aneurysm\Congenital arterial aneurysm\Lethal arteriopathy syndrome due to fibulin-4 deficiency (disorder)
\General finding of soft tissue\Blood vessel finding\Finding of artery\Distention of artery\Arterial aneurysm\Congenital arterial aneurysm\Lethal arteriopathy syndrome due to fibulin-4 deficiency (disorder)
\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 (disorder)
\General finding of soft tissue\Blood vessel finding\Vascular disorder\Congenital vascular disorder (disorder)\Congenital vascular malformation (disorder)\Arterial malformation\Congenital arterial aneurysm\Lethal arteriopathy syndrome due to fibulin-4 deficiency (disorder)
\General finding of soft tissue\Blood vessel finding\Vascular disorder\Disorder of artery (disorder)\Arterial malformation\Congenital arterial aneurysm\Lethal arteriopathy syndrome due to fibulin-4 deficiency (disorder)
\General finding of soft tissue\Blood vessel finding\Vascular disorder\Disorder of artery (disorder)\Arterial aneurysm\Congenital arterial aneurysm\Lethal arteriopathy syndrome due to fibulin-4 deficiency (disorder)
\General finding of soft tissue\Disorder of soft tissue\Lesion of soft tissue (disorder)\Arterial aneurysm\Congenital arterial aneurysm\Lethal arteriopathy syndrome due to fibulin-4 deficiency (disorder)
\General finding of soft tissue\Disorder of soft tissue\Vascular disorder\Congenital vascular disorder (disorder)\Congenital vascular malformation (disorder)\Arterial malformation\Congenital arterial aneurysm\Lethal arteriopathy syndrome due to fibulin-4 deficiency (disorder)
\General finding of soft tissue\Disorder of soft tissue\Vascular disorder\Disorder of artery (disorder)\Arterial malformation\Congenital arterial aneurysm\Lethal arteriopathy syndrome due to fibulin-4 deficiency (disorder)
\General finding of soft tissue\Disorder of soft tissue\Vascular disorder\Disorder of artery (disorder)\Arterial aneurysm\Congenital arterial aneurysm\Lethal arteriopathy syndrome due to fibulin-4 deficiency (disorder)

\Cardiovascular finding\Disorder of cardiovascular system (disorder)\Congenital cardiovascular disorder (disorder)\Congenital vascular disorder (disorder)\Congenital vascular malformation (disorder)\Arterial malformation\Congenital arterial aneurysm\Lethal arteriopathy syndrome due to fibulin-4 deficiency (disorder)
\Cardiovascular finding\Disorder of cardiovascular system (disorder)\Congenital cardiovascular disorder (disorder)\Congenital anomaly of cardiovascular system\Congenital vascular malformation (disorder)\Arterial malformation\Congenital arterial aneurysm\Lethal arteriopathy syndrome due to fibulin-4 deficiency (disorder)
\Cardiovascular finding\Disorder of cardiovascular system (disorder)\Aneurysm (disorder)\Arterial aneurysm\Congenital arterial aneurysm\Lethal arteriopathy syndrome due to fibulin-4 deficiency (disorder)
\Cardiovascular finding\Disorder of cardiovascular system (disorder)\Cardiovascular system hereditary disorder\Lethal arteriopathy syndrome due to fibulin-4 deficiency (disorder)
\Cardiovascular finding\Disorder of cardiovascular system (disorder)\Vascular disorder\Congenital vascular disorder (disorder)\Congenital vascular malformation (disorder)\Arterial malformation\Congenital arterial aneurysm\Lethal arteriopathy syndrome due to fibulin-4 deficiency (disorder)
\Cardiovascular finding\Disorder of cardiovascular system (disorder)\Vascular disorder\Disorder of artery (disorder)\Arterial malformation\Congenital arterial aneurysm\Lethal arteriopathy syndrome due to fibulin-4 deficiency (disorder)
\Cardiovascular finding\Disorder of cardiovascular system (disorder)\Vascular disorder\Disorder of artery (disorder)\Arterial aneurysm\Congenital arterial aneurysm\Lethal arteriopathy syndrome due to fibulin-4 deficiency (disorder)
\Cardiovascular finding\Blood vessel finding\Finding of artery\Disorder of artery (disorder)\Arterial malformation\Congenital arterial aneurysm\Lethal arteriopathy syndrome due to fibulin-4 deficiency (disorder)
\Cardiovascular finding\Blood vessel finding\Finding of artery\Disorder of artery (disorder)\Arterial aneurysm\Congenital arterial aneurysm\Lethal arteriopathy syndrome due to fibulin-4 deficiency (disorder)
\Cardiovascular finding\Blood vessel finding\Finding of artery\Distention of artery\Arterial aneurysm\Congenital arterial aneurysm\Lethal arteriopathy syndrome due to fibulin-4 deficiency (disorder)
\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 (disorder)
\Cardiovascular finding\Blood vessel finding\Vascular disorder\Congenital vascular disorder (disorder)\Congenital vascular malformation (disorder)\Arterial malformation\Congenital arterial aneurysm\Lethal arteriopathy syndrome due to fibulin-4 deficiency (disorder)
\Cardiovascular finding\Blood vessel finding\Vascular disorder\Disorder of artery (disorder)\Arterial malformation\Congenital arterial aneurysm\Lethal arteriopathy syndrome due to fibulin-4 deficiency (disorder)
\Cardiovascular finding\Blood vessel finding\Vascular disorder\Disorder of artery (disorder)\Arterial aneurysm\Congenital arterial aneurysm\Lethal arteriopathy syndrome due to fibulin-4 deficiency (disorder)

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Cardiovascular system hereditary disorder\Lethal arteriopathy syndrome due to fibulin-4 deficiency (disorder)
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Lethal arteriopathy syndrome due to fibulin-4 deficiency (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Lethal arteriopathy syndrome due to fibulin-4 deficiency (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital cardiovascular disorder (disorder)\Congenital vascular disorder (disorder)\Congenital vascular malformation (disorder)\Arterial malformation\Congenital arterial aneurysm\Lethal arteriopathy syndrome due to fibulin-4 deficiency (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital cardiovascular disorder (disorder)\Congenital anomaly of cardiovascular system\Congenital vascular malformation (disorder)\Arterial malformation\Congenital arterial aneurysm\Lethal arteriopathy syndrome due to fibulin-4 deficiency (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of cardiovascular system\Congenital vascular malformation (disorder)\Arterial malformation\Congenital arterial aneurysm\Lethal arteriopathy syndrome due to fibulin-4 deficiency (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Cardiovascular system hereditary disorder\Lethal arteriopathy syndrome due to fibulin-4 deficiency (disorder)
\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\Lethal arteriopathy syndrome due to fibulin-4 deficiency (disorder)
\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\Lethal arteriopathy syndrome due to fibulin-4 deficiency (disorder)
\Disease\Disorder of body system\Disorder of cardiovascular system (disorder)\Aneurysm (disorder)\Arterial aneurysm\Congenital arterial aneurysm\Lethal arteriopathy syndrome due to fibulin-4 deficiency (disorder)
\Disease\Disorder of body system\Disorder of cardiovascular system (disorder)\Cardiovascular system hereditary disorder\Lethal arteriopathy syndrome due to fibulin-4 deficiency (disorder)
\Disease\Disorder of body system\Disorder of cardiovascular system (disorder)\Vascular disorder\Congenital vascular disorder (disorder)\Congenital vascular malformation (disorder)\Arterial malformation\Congenital arterial aneurysm\Lethal arteriopathy syndrome due to fibulin-4 deficiency (disorder)
\Disease\Disorder of body system\Disorder of cardiovascular system (disorder)\Vascular disorder\Disorder of artery (disorder)\Arterial malformation\Congenital arterial aneurysm\Lethal arteriopathy syndrome due to fibulin-4 deficiency (disorder)
\Disease\Disorder of body system\Disorder of cardiovascular system (disorder)\Vascular disorder\Disorder of artery (disorder)\Arterial aneurysm\Congenital arterial aneurysm\Lethal arteriopathy syndrome due to fibulin-4 deficiency (disorder)
\Disease\Disorder of soft tissue\Lesion of soft tissue (disorder)\Arterial aneurysm\Congenital arterial aneurysm\Lethal arteriopathy syndrome due to fibulin-4 deficiency (disorder)
\Disease\Disorder of soft tissue\Vascular disorder\Congenital vascular disorder (disorder)\Congenital vascular malformation (disorder)\Arterial malformation\Congenital arterial aneurysm\Lethal arteriopathy syndrome due to fibulin-4 deficiency (disorder)
\Disease\Disorder of soft tissue\Vascular disorder\Disorder of artery (disorder)\Arterial malformation\Congenital arterial aneurysm\Lethal arteriopathy syndrome due to fibulin-4 deficiency (disorder)
\Disease\Disorder of soft tissue\Vascular disorder\Disorder of artery (disorder)\Arterial aneurysm\Congenital arterial aneurysm\Lethal arteriopathy syndrome due to fibulin-4 deficiency (disorder)
\Disease\Developmental disorder\Developmental hereditary disorder\Lethal arteriopathy syndrome due to fibulin-4 deficiency (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of cardiovascular system\Congenital vascular malformation (disorder)\Arterial malformation\Congenital arterial aneurysm\Lethal arteriopathy syndrome due to fibulin-4 deficiency (disorder)

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

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

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

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Lethal arteriopathy syndrome due to fibulin-4 deficiency (disorder)	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Lethal arteriopathy syndrome due to fibulin-4 deficiency (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Lethal arteriopathy syndrome due to fibulin-4 deficiency (disorder)	Associated morphology	Aneurysm	true	Inferred relationship	Some	1
Lethal arteriopathy syndrome due to fibulin-4 deficiency (disorder)	Is a	Congenital arterial aneurysm	true	Inferred relationship	Some
Lethal arteriopathy syndrome due to fibulin-4 deficiency (disorder)	Finding site	Arterial structure	true	Inferred relationship	Some	1
Lethal arteriopathy syndrome due to fibulin-4 deficiency (disorder)	Is a	Cardiovascular system hereditary disorder	true	Inferred relationship	Some
Lethal arteriopathy syndrome due to fibulin-4 deficiency (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Lethal arteriopathy syndrome due to fibulin-4 deficiency (disorder)	Is a	Developmental hereditary disorder	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
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
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