699305004: 1q21.1 microdeletion syndrome (disorder)

• SNOMED CT Concept\Clinical finding\Disease\...
• \Chromosomal disorder\Congenital chromosomal disease\Anomaly of chromosome pair\...
• \Monosomy and deletion from autosome\Deletion of part of autosome\Deletion of part of chromosome 1\1q partial monosomy\1q21.1 microdeletion
• \Anomaly of chromosome pair 1\Deletion of part of chromosome 1\1q partial monosomy\1q21.1 microdeletion
• \Congenital disease\Congenital anomaly\1q21.1 microdeletion
• \Congenital disease\Congenital chromosomal disease\Anomaly of chromosome pair\Monosomy and deletion from autosome\Deletion of part of autosome\Deletion of part of chromosome 1\1q partial monosomy\1q21.1 microdeletion
• \Congenital disease\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 1\Deletion of part of chromosome 1\1q partial monosomy\1q21.1 microdeletion
• \Developmental disorder\Congenital anomaly\1q21.1 microdeletion

Status: current, Primitive. Date: 31-Jan 2014. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
2983579010	Chromosome 1q21.1 deletion syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
2983615017	1q21.1 contiguous gene deletion	en	Synonym	Active	Case insensitive	SNOMED CT core
2983705015	1q21.1 microdeletion	en	Synonym	Active	Case insensitive	SNOMED CT core
3015049014	Microdeletion of chromosome 1q21.1	en	Synonym	Active	Case insensitive	SNOMED CT core
4555237018	1q21.1 microdeletion syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
4555239015	1q21.1 microdeletion syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Australian dialect reference set

Problem/Diagnosis reference set

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