716387004: 2q31.1 microdeletion syndrome (disorder)

• SNOMED CT Concept\Clinical finding (finding)\Disease\...
• \Disorder of foetus and/or newborn\Congenital disease (disorder)\...
• \Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\2q31.1 microdeletion syndrome (disorder)
• \Congenital chromosomal disease\Anomaly of chromosome pair\...
• \Monosomy and deletion from autosome (disorder)\Deletion of part of autosome\Deletion of part of chromosome 2 (disorder)\Deletion of part of long arm of chromosome 2 (disorder)\2q31.1 microdeletion syndrome (disorder)
• \Anomaly of chromosome pair 2\Deletion of part of chromosome 2 (disorder)\Deletion of part of long arm of chromosome 2 (disorder)\2q31.1 microdeletion syndrome (disorder)
• \Chromosomal disorder (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\...
• \Monosomy and deletion from autosome (disorder)\Deletion of part of autosome\Deletion of part of chromosome 2 (disorder)\Deletion of part of long arm of chromosome 2 (disorder)\2q31.1 microdeletion syndrome (disorder)
• \Anomaly of chromosome pair 2\Deletion of part of chromosome 2 (disorder)\Deletion of part of long arm of chromosome 2 (disorder)\2q31.1 microdeletion syndrome (disorder)
• \Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\2q31.1 microdeletion syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2016. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3305895013	2q31.1 microdeletion syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3305896014	2q31.1 microdeletion syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3305897017	Monosomy 2q31.1	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5401319019	2q31.1 microdeletion syndrome is a well-defined and clinically recognisable syndrome characterized by moderate to severe developmental delay, short stature, facial dysmorphism and variable limb defects.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5401320013	2q31.1 microdeletion syndrome is a well-defined and clinically recognisable syndrome characterised by moderate to severe developmental delay, short stature, facial dysmorphism and variable limb defects.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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