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785808002: Aneurysm osteoarthritis syndrome (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 Reference Sets
3768464014 Aneurysm osteoarthritis syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Preferred (foundation metadata concept)
3768465010 Aneurysm osteoarthritis syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Preferred (foundation metadata concept)
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 Entire term case sensitive (core metadata concept) SNOMED CT core GB English: Preferred (foundation metadata concept)

0 descendants.

Expanded Value Set


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