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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
3768464014 Aneurysm osteoarthritis syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3768465010 Aneurysm osteoarthritis syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) 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 Entire term case sensitive (core metadata concept) SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Aneurysm osteoarthritis syndrome (disorder) est un(e) (attribut) Autosomal dominant hereditary disorder true Inferred relationship Some
Aneurysm osteoarthritis syndrome (disorder) est un(e) (attribut) 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) est un(e) (attribut) Multiple malformation syndrome with facial defects as major feature true Inferred relationship Some
Aneurysm osteoarthritis syndrome (disorder) est un(e) (attribut) affection congénitale du tissu conjonctif true Inferred relationship Some
Aneurysm osteoarthritis syndrome (disorder) est un(e) (attribut) Cardiovascular system hereditary disorder true Inferred relationship Some
Aneurysm osteoarthritis syndrome (disorder) est un(e) (attribut) Connective tissue hereditary disorder true Inferred relationship Some
Aneurysm osteoarthritis syndrome (disorder) est un(e) (attribut) Hereditary disorder of musculoskeletal system true Inferred relationship Some
Aneurysm osteoarthritis syndrome (disorder) est un(e) (attribut) Musculoskeletal and connective tissue disorder (disorder) true Inferred relationship Some
Aneurysm osteoarthritis syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 2
Aneurysm osteoarthritis syndrome (disorder) est un(e) (attribut) ostéoarthrite (trouble) true Inferred relationship Some
Aneurysm osteoarthritis syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 3
Aneurysm osteoarthritis syndrome (disorder) localisation d'une constatation (attribut) structure de l'artère (structure corporelle) true Inferred relationship Some 3
Aneurysm osteoarthritis syndrome (disorder) localisation d'une constatation (attribut) structure articulaire true Inferred relationship Some 1
Aneurysm osteoarthritis syndrome (disorder) localisation d'une constatation (attribut) Connective tissue structure true Inferred relationship Some 4
Aneurysm osteoarthritis syndrome (disorder) morphologie associée (attribut) dégénérescence false Inferred relationship Some 1
Aneurysm osteoarthritis syndrome (disorder) localisation d'une constatation (attribut) face true Inferred relationship Some 2
Aneurysm osteoarthritis syndrome (disorder) morphologie associée (attribut) Aneurysm true Inferred relationship Some 3
Aneurysm osteoarthritis syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 4
Aneurysm osteoarthritis syndrome (disorder) morphologie associée (attribut) structure anormale sur le plan morphologique true Inferred relationship Some 2
Aneurysm osteoarthritis syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
Aneurysm osteoarthritis syndrome (disorder) morphologie associée (attribut) Degenerative abnormality true Inferred relationship Some 1
Aneurysm osteoarthritis syndrome (disorder) est un(e) (attribut) Developmental hereditary disorder true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Canada English language reference set (foundation metadata concept)

Description inactivation indicator reference set

GB English

US English

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