719663005: 6q25 microdeletion syndrome (disorder)

• SNOMED CT Concept\Clinical finding (finding)\Disease\...
• \Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\...
• \Monosomy and deletion from autosome (disorder)\Deletion of part of autosome\Deletion of part of chromosome 6 (disorder)\Deletion of part of long arm of chromosome 6 (disorder)\6q25 microdeletion syndrome (disorder)
• \Anomaly of chromosome pair 6\Deletion of part of chromosome 6 (disorder)\Deletion of part of long arm of chromosome 6 (disorder)\6q25 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 6 (disorder)\Deletion of part of long arm of chromosome 6 (disorder)\6q25 microdeletion syndrome (disorder)
• \Anomaly of chromosome pair 6\Deletion of part of chromosome 6 (disorder)\Deletion of part of long arm of chromosome 6 (disorder)\6q25 microdeletion syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3317293016	6q25 microdeletion syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3317294010	6q25 microdeletion syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3317295011	Monosomy 6q25	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3317296012	A recently described syndrome with characteristics of developmental delay, facial dysmorphism and hearing loss. It has been diagnosed in 4 patients. All of them presented with microcephaly, developmental delay, dysmorphic features and hearing loss, two of them had agenesis of the corpus callosum. Dysmorphic features include midface hypoplasia, hypertelorism, broad nasal root and posteriorly rotated ears.This syndrome is caused by an interstitial deletion encompassing 6q25.2-q25.3. These de novo deletions have a variable size with the smallest region of overlap of 3.52 Mb.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

This concept is not in any reference sets

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