19346006: Marfan's syndrome (disorder)

SNOMED CT Concept\Clinical finding (finding)\Disease\...

\Genetic disease\Hereditary disease\...

\Connective tissue hereditary disorder\Marfan's syndrome

\Autosomal hereditary disorder\Autosomal dominant hereditary disorder (disorder)\Marfan's syndrome

\Disorder of connective tissue (disorder)\Connective tissue hereditary disorder\Marfan's syndrome

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

32612014 Marfan's syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

32613016 Marfan's disease en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

747367019 Marfan's syndrome (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core

2839233010 Marfan syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

1042691000195111 sindrome di Marfan it Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

3971000172110 syndrome de Marfan fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

3454021001000118 Marfan-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Marfan's syndrome	Is a	affection héréditaire du tissu conjonctif	false	Inferred relationship	Some
Marfan's syndrome	Is a	Autosomal dominant hereditary disorder (disorder)	true	Inferred relationship	Some
Marfan's syndrome	Finding site	Connective tissue	false	Inferred relationship	Some
Marfan's syndrome	Finding site	Structure of musculoskeletal system (body structure)	false	Inferred relationship	Some
Marfan's syndrome	Finding site	Anatomical structure	false	Inferred relationship	Some
Marfan's syndrome	Finding site	Anatomical concepts	false	Inferred relationship	Some
Marfan's syndrome	Finding site	Connective tissue structure	true	Inferred relationship	Some	1
Marfan's syndrome	Is a	Connective tissue hereditary disorder	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Marfan's syndrome affecting skin	Is a	True	Marfan's syndrome	Inferred relationship	Some
Marfanoid joint hypermobility syndrome	Is a	True	Marfan's syndrome	Inferred relationship	Some
Family history of Marfan syndrome (situation)	Associated finding	True	Marfan's syndrome	Inferred relationship	Some	1
Disorder of eye co-occurrent and due to Marfan syndrome (disorder)	Due to	True	Marfan's syndrome	Inferred relationship	Some	2
Disorder of eye co-occurrent and due to Marfan syndrome (disorder)	Is a	True	Marfan's syndrome	Inferred relationship	Some
Dilatation of aortic root due to Marfan's syndrome (disorder)	Due to	True	Marfan's syndrome	Inferred relationship	Some	2
Disorder of cardiovascular system co-occurrent and due to Marfan syndrome (disorder)	Due to	True	Marfan's syndrome	Inferred relationship	Some	2
Disorder of cardiovascular system co-occurrent and due to Marfan syndrome (disorder)	Is a	True	Marfan's syndrome	Inferred relationship	Some
Neonatal Marfan syndrome is a rare, severe and life-threatening genetic disease, occurring during the neonatal period, characterized by classical Marfan syndrome manifestations in addition to facial dysmorphism (megalocornea, iridodonesis, ectopia lentis, crumpled ears, loose redundant skin giving a senile facial appearance), flexion joint contractures, pulmonary emphysema, and a severe, rapidly progressive cardiovascular disease (including ascending aortic dilatation and severe mitral and/or tricuspid valve insufficiency). Additionally, skeletal manifestations (arachnodactyly, dolichostenomelia, pectus deformities) are also associated.	Is a	True	Marfan's syndrome	Inferred relationship	Some
A rare systemic disease characterized by a neonatal progeroid appearance (not associated with other manifestations of premature aging) associated with facial dysmorphism (e.g. macrocephaly or arrested hydrocephaly, proptosis, downslanting palpebral fissures, retrognathia), generalized, extreme, congenital lack of subcutaneous fat tissue (except in the breast and iliac region) and incomplete signs of Marfan syndrome (mainly severe myopia, joint hyperextensibility and arachnodactyly). Metabolic disturbances are not associated.	Is a	True	Marfan's syndrome	Inferred relationship	Some
Marfan syndrome type 1	Is a	True	Marfan's syndrome	Inferred relationship	Some

This concept is not in any reference sets