785808002: Aneurysm osteoarthritis syndrome (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\Aneurysm osteoarthritis syndrome
\General finding of soft tissue\Blood vessel finding\Arterial finding\Disorder of artery\Arterial aneurysm\Congenital arterial aneurysm\Aneurysm osteoarthritis syndrome
\General finding of soft tissue\Blood vessel finding\Arterial finding\Distention of artery\Arterial aneurysm\Congenital arterial aneurysm\Aneurysm osteoarthritis syndrome
\General finding of soft tissue\Blood vessel finding\Dilatation of blood vessel\Distention of artery\Arterial aneurysm\Congenital arterial aneurysm\Aneurysm osteoarthritis syndrome
\General finding of soft tissue\Blood vessel finding\Vascular disorder\Congenital vascular disorder\Congenital vascular malformation\Congenital anomaly of artery\Congenital arterial aneurysm\Aneurysm osteoarthritis syndrome
\General finding of soft tissue\Blood vessel finding\Vascular disorder\Disorder of artery\Congenital anomaly of artery\Congenital arterial aneurysm\Aneurysm osteoarthritis syndrome
\General finding of soft tissue\Blood vessel finding\Vascular disorder\Disorder of artery\Arterial aneurysm\Congenital arterial aneurysm\Aneurysm osteoarthritis syndrome
\General finding of soft tissue\Disorder of soft tissue\Soft tissue lesion\Arterial aneurysm\Congenital arterial aneurysm\Aneurysm osteoarthritis syndrome
\General finding of soft tissue\Disorder of soft tissue\Vascular disorder\Congenital vascular disorder\Congenital vascular malformation\Congenital anomaly of artery\Congenital arterial aneurysm\Aneurysm osteoarthritis syndrome
\General finding of soft tissue\Disorder of soft tissue\Vascular disorder\Disorder of artery\Congenital anomaly of artery\Congenital arterial aneurysm\Aneurysm osteoarthritis syndrome
\General finding of soft tissue\Disorder of soft tissue\Vascular disorder\Disorder of artery\Arterial aneurysm\Congenital arterial aneurysm\Aneurysm osteoarthritis syndrome

\Finding of head and neck region\Head finding\...

\Finding of head region\Finding of face\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Aneurysm osteoarthritis syndrome

\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Aneurysm osteoarthritis syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Aneurysm osteoarthritis syndrome

\Cardiovascular finding\Cardiovascular disease\Congenital cardiovascular disorder\Congenital vascular disorder\Congenital vascular malformation\Congenital anomaly of artery\Congenital arterial aneurysm\Aneurysm osteoarthritis syndrome
\Cardiovascular finding\Cardiovascular disease\Congenital cardiovascular disorder\Congenital anomaly of cardiovascular system\Congenital vascular malformation\Congenital anomaly of artery\Congenital arterial aneurysm\Aneurysm osteoarthritis syndrome
\Cardiovascular finding\Cardiovascular disease\Aneurysm\Arterial aneurysm\Congenital arterial aneurysm\Aneurysm osteoarthritis syndrome
\Cardiovascular finding\Cardiovascular disease\Cardiovascular system hereditary disorder\Aneurysm osteoarthritis syndrome
\Cardiovascular finding\Cardiovascular disease\Vascular disorder\Congenital vascular disorder\Congenital vascular malformation\Congenital anomaly of artery\Congenital arterial aneurysm\Aneurysm osteoarthritis syndrome
\Cardiovascular finding\Cardiovascular disease\Vascular disorder\Disorder of artery\Congenital anomaly of artery\Congenital arterial aneurysm\Aneurysm osteoarthritis syndrome
\Cardiovascular finding\Cardiovascular disease\Vascular disorder\Disorder of artery\Arterial aneurysm\Congenital arterial aneurysm\Aneurysm osteoarthritis syndrome
\Cardiovascular finding\Blood vessel finding\Arterial finding\Disorder of artery\Congenital anomaly of artery\Congenital arterial aneurysm\Aneurysm osteoarthritis syndrome
\Cardiovascular finding\Blood vessel finding\Arterial finding\Disorder of artery\Arterial aneurysm\Congenital arterial aneurysm\Aneurysm osteoarthritis syndrome
\Cardiovascular finding\Blood vessel finding\Arterial finding\Distention of artery\Arterial aneurysm\Congenital arterial aneurysm\Aneurysm osteoarthritis syndrome
\Cardiovascular finding\Blood vessel finding\Dilatation of blood vessel\Distention of artery\Arterial aneurysm\Congenital arterial aneurysm\Aneurysm osteoarthritis syndrome
\Cardiovascular finding\Blood vessel finding\Vascular disorder\Congenital vascular disorder\Congenital vascular malformation\Congenital anomaly of artery\Congenital arterial aneurysm\Aneurysm osteoarthritis syndrome
\Cardiovascular finding\Blood vessel finding\Vascular disorder\Disorder of artery\Congenital anomaly of artery\Congenital arterial aneurysm\Aneurysm osteoarthritis syndrome
\Cardiovascular finding\Blood vessel finding\Vascular disorder\Disorder of artery\Arterial aneurysm\Congenital arterial aneurysm\Aneurysm osteoarthritis syndrome

\Musculoskeletal finding\Joint finding\Arthropathy\Osteoarthritis\Aneurysm osteoarthritis syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Aneurysm osteoarthritis syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Degenerative disorder of musculoskeletal system\Osteoarthritis\Aneurysm osteoarthritis syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Musculoskeletal and connective tissue disorder\Aneurysm osteoarthritis syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Arthropathy\Osteoarthritis\Aneurysm osteoarthritis syndrome

\Disease\Disorder of joint region\Arthropathy\Osteoarthritis\Aneurysm osteoarthritis syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Aneurysm osteoarthritis syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Cardiovascular system hereditary disorder\Aneurysm osteoarthritis syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Aneurysm osteoarthritis syndrome
\Disease\Genetic disease\Hereditary disease\Inherited disorder of connective tissue\Aneurysm osteoarthritis syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Aneurysm osteoarthritis syndrome
\Disease\Degenerative disorder\Degenerative disorder of musculoskeletal system\Osteoarthritis\Aneurysm osteoarthritis syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Aneurysm osteoarthritis syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Cardiovascular system hereditary disorder\Aneurysm osteoarthritis syndrome
\Disease\Disorder of body system\Cardiovascular disease\Congenital cardiovascular disorder\Congenital vascular disorder\Congenital vascular malformation\Congenital anomaly of artery\Congenital arterial aneurysm\Aneurysm osteoarthritis syndrome
\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\Aneurysm osteoarthritis syndrome
\Disease\Disorder of body system\Cardiovascular disease\Aneurysm\Arterial aneurysm\Congenital arterial aneurysm\Aneurysm osteoarthritis syndrome
\Disease\Disorder of body system\Cardiovascular disease\Cardiovascular system hereditary disorder\Aneurysm osteoarthritis syndrome
\Disease\Disorder of body system\Cardiovascular disease\Vascular disorder\Congenital vascular disorder\Congenital vascular malformation\Congenital anomaly of artery\Congenital arterial aneurysm\Aneurysm osteoarthritis syndrome
\Disease\Disorder of body system\Cardiovascular disease\Vascular disorder\Disorder of artery\Congenital anomaly of artery\Congenital arterial aneurysm\Aneurysm osteoarthritis syndrome
\Disease\Disorder of body system\Cardiovascular disease\Vascular disorder\Disorder of artery\Arterial aneurysm\Congenital arterial aneurysm\Aneurysm osteoarthritis syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Aneurysm osteoarthritis syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Degenerative disorder of musculoskeletal system\Osteoarthritis\Aneurysm osteoarthritis syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Musculoskeletal and connective tissue disorder\Aneurysm osteoarthritis syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Arthropathy\Osteoarthritis\Aneurysm osteoarthritis syndrome
\Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Aneurysm osteoarthritis syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Aneurysm osteoarthritis syndrome
\Disease\Disorder of connective tissue\Inherited disorder of connective tissue\Aneurysm osteoarthritis syndrome
\Disease\Disorder of connective tissue\Congenital connective tissue disorder\Aneurysm osteoarthritis syndrome
\Disease\Disorder of connective tissue\Musculoskeletal and connective tissue disorder\Aneurysm osteoarthritis syndrome
\Disease\Congenital disease\Congenital cardiovascular disorder\Congenital vascular disorder\Congenital vascular malformation\Congenital anomaly of artery\Congenital arterial aneurysm\Aneurysm osteoarthritis syndrome
\Disease\Congenital disease\Congenital cardiovascular disorder\Congenital anomaly of cardiovascular system\Congenital vascular malformation\Congenital anomaly of artery\Congenital arterial aneurysm\Aneurysm osteoarthritis syndrome
\Disease\Congenital disease\Congenital connective tissue disorder\Aneurysm osteoarthritis syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Aneurysm osteoarthritis syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Aneurysm osteoarthritis syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of cardiovascular system\Congenital vascular malformation\Congenital anomaly of artery\Congenital arterial aneurysm\Aneurysm osteoarthritis syndrome
\Disease\Disorder of soft tissue\Soft tissue lesion\Arterial aneurysm\Congenital arterial aneurysm\Aneurysm osteoarthritis syndrome
\Disease\Disorder of soft tissue\Vascular disorder\Congenital vascular disorder\Congenital vascular malformation\Congenital anomaly of artery\Congenital arterial aneurysm\Aneurysm osteoarthritis syndrome
\Disease\Disorder of soft tissue\Vascular disorder\Disorder of artery\Congenital anomaly of artery\Congenital arterial aneurysm\Aneurysm osteoarthritis syndrome
\Disease\Disorder of soft tissue\Vascular disorder\Disorder of artery\Arterial aneurysm\Congenital arterial aneurysm\Aneurysm osteoarthritis syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Aneurysm osteoarthritis syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Aneurysm osteoarthritis syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Aneurysm osteoarthritis syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of cardiovascular system\Congenital vascular malformation\Congenital anomaly of artery\Congenital arterial aneurysm\Aneurysm osteoarthritis syndrome

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

Descriptions:

Id Description Lang Type Status Case? Module

3768464014 Aneurysm osteoarthritis syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core

3768465010 Aneurysm osteoarthritis syndrome en Synonym Active Case insensitive SNOMED CT core

3768466011 A rare genetic systemic disease with the presence of arterial aneurysms, tortuosity and dissection throughout the arterial tree, associated with early-onset osteoarthritis (predominantly affecting the spine, hands and/or wrists, and knees) and mild craniofacial dysmorphism (including long face, high forehead, flat supraorbital ridges, hypertelorism, malar hypoplasia and a raphe, broad or bifid uvula), as well as mild skeletal and cutaneous anomalies. Joint abnormalities, such as osteochondritis dissecans and intervertebral disc degeneration, are frequently associated. Additional cardiovascular anomalies may include mitral valve defects, congenital heart malformations, ventricular hypertrophy and atrial fibrillation. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Aneurysm osteoarthritis syndrome	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Aneurysm osteoarthritis syndrome	Is a	Congenital arterial aneurysm	true	Inferred relationship	Some
Aneurysm osteoarthritis syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	2
Aneurysm osteoarthritis syndrome	Is a	Multiple malformation syndrome with facial defects as major feature	true	Inferred relationship	Some
Aneurysm osteoarthritis syndrome	Is a	Congenital connective tissue disorder	true	Inferred relationship	Some
Aneurysm osteoarthritis syndrome	Is a	Cardiovascular system hereditary disorder	true	Inferred relationship	Some
Aneurysm osteoarthritis syndrome	Is a	Inherited disorder of connective tissue	true	Inferred relationship	Some
Aneurysm osteoarthritis syndrome	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Aneurysm osteoarthritis syndrome	Is a	Musculoskeletal and connective tissue disorder	true	Inferred relationship	Some
Aneurysm osteoarthritis syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
Aneurysm osteoarthritis syndrome	Is a	Osteoarthritis	true	Inferred relationship	Some
Aneurysm osteoarthritis syndrome	Occurrence	Congenital	true	Inferred relationship	Some	3
Aneurysm osteoarthritis syndrome	Finding site	Arterial structure	true	Inferred relationship	Some	3
Aneurysm osteoarthritis syndrome	Finding site	Joint structure	true	Inferred relationship	Some	1
Aneurysm osteoarthritis syndrome	Finding site	Connective tissue structure	true	Inferred relationship	Some	4
Aneurysm osteoarthritis syndrome	Associated morphology	Degeneration	false	Inferred relationship	Some	1
Aneurysm osteoarthritis syndrome	Finding site	Face structure	true	Inferred relationship	Some	2
Aneurysm osteoarthritis syndrome	Associated morphology	Aneurysm	true	Inferred relationship	Some	3
Aneurysm osteoarthritis syndrome	Occurrence	Congenital	true	Inferred relationship	Some	4
Aneurysm osteoarthritis syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	2
Aneurysm osteoarthritis syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	3
Aneurysm osteoarthritis syndrome	Associated morphology	Degenerative abnormality	true	Inferred relationship	Some	1
Aneurysm osteoarthritis syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Musculoskeletal finding reference set

Cardiovascular finding reference set

Problem/Diagnosis reference set

Description inactivation indicator reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3768464014	Aneurysm osteoarthritis syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3768465010	Aneurysm osteoarthritis syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3768466011	A rare genetic systemic disease with the presence of arterial aneurysms, tortuosity and dissection throughout the arterial tree, associated with early-onset osteoarthritis (predominantly affecting the spine, hands and/or wrists, and knees) and mild craniofacial dysmorphism (including long face, high forehead, flat supraorbital ridges, hypertelorism, malar hypoplasia and a raphe, broad or bifid uvula), as well as mild skeletal and cutaneous anomalies. Joint abnormalities, such as osteochondritis dissecans and intervertebral disc degeneration, are frequently associated. Additional cardiovascular anomalies may include mitral valve defects, congenital heart malformations, ventricular hypertrophy and atrial fibrillation.	en	Definition	Active	Case sensitive	SNOMED CT core