19346006: Marfan's syndrome (disorder)

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

\Genetic disease\Hereditary disease\...

\Connective tissue hereditary disorder (disorder)\Marfan's syndrome

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

\Disorder of connective tissue (disorder)\Connective tissue hereditary disorder (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

3971000172110 syndrome de Marfan fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

11412331000172113 Marfan, d'origine congénitale fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) Belgian module (core metadata concept)

3981000172113 Marfan-syndroom nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) Belgian module (core metadata concept)

865241000172110 syndroom van Marfan nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

10846101000172114 congenitale Marfan syndroom nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Marfan's syndrome	Is a	Inherited disorder of connective tissue	false	Inferred relationship	Some
Marfan's syndrome	Is a	Autosomal dominant hereditary 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 (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	True	Marfan's syndrome	Inferred relationship	Some
Progeroid and marfanoid aspect, lipodystrophy syndrome (disorder)	Is a	True	Marfan's syndrome	Inferred relationship	Some
Marfan syndrome type 1	Is a	True	Marfan's syndrome	Inferred relationship	Some

Reference Sets

Belgian GP subset (foundation metadata concept)

Belgian subset for medical problems in patient health records