716456000: 3q29 microdeletion syndrome (disorder)

• SNOMED CT Concept\Clinical finding (finding)\Disease\...
• \Genetic disease\Hereditary disease\...
• \Developmental hereditary disorder\3q29 microdeletion syndrome (disorder)
• \Autosomal hereditary disorder\Autosomal dominant hereditary disorder\3q29 microdeletion syndrome (disorder)
• \Disorder of foetus and/or newborn\Congenital disease (disorder)\...
• \Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\3q29 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 3 (disorder)\Deletion of part of long arm of chromosome 3 (disorder)\3q29 microdeletion syndrome (disorder)
• \Anomaly of chromosome pair 3\Deletion of part of chromosome 3 (disorder)\Deletion of part of long arm of chromosome 3 (disorder)\3q29 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 3 (disorder)\Deletion of part of long arm of chromosome 3 (disorder)\3q29 microdeletion syndrome (disorder)
• \Anomaly of chromosome pair 3\Deletion of part of chromosome 3 (disorder)\Deletion of part of long arm of chromosome 3 (disorder)\3q29 microdeletion syndrome (disorder)
• \Developmental disorder\Developmental hereditary disorder\3q29 microdeletion syndrome (disorder)
• \Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\3q29 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
3306036018	3q29 microdeletion syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3306037010	3q29 microdeletion syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3306038017	3q subtelomere deletion syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3306039013	Monosomy 3q29	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5401321012	A recurrent subtelomeric deletion syndrome with variable clinical manifestations including intellectual deficit and dysmorphic features.	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)

Back to Start