1003407000: Marfan syndrome type 1 (disorder)

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

\Genetic disease\Hereditary disease\...

\Connective tissue hereditary disorder (disorder)\Marfan's syndrome\Marfan syndrome type 1

\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Marfan's syndrome\Marfan syndrome type 1

\Disorder of connective tissue (disorder)\Connective tissue hereditary disorder (disorder)\Marfan's syndrome\Marfan syndrome type 1

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2021. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

4168180010 Marfan syndrome type 1 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

4168181014 Marfan syndrome type 1 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

14059001000172116 maladie de Marfan de type 1 fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

14059011000172118 syndrome de Marfan de type 1 fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

4820951000172113 Marfan-syndroom type 1 nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) Belgian module (core metadata concept)

4820961000172110 MFS type 1 nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) Belgian module (core metadata concept)

4820971000172118 syndroom van Marfan type 1 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 syndrome type 1	Is a	Marfan's syndrome	true	Inferred relationship	Some
Marfan syndrome type 1	Finding site	Connective tissue structure	true	Inferred relationship	Some	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Description inactivation indicator reference set