719575008: 15q14 microdeletion syndrome (disorder)

• SNOMED CT Concept\Clinical finding (finding)\Disease\...
• \Disorder of foetus and/or newborn\Congenital disease\...
• \Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\15q14 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 15 (disorder)\Partial deletion of long arm of chromosome 15 (disorder)\15q14 microdeletion syndrome (disorder)
• \Anomaly of chromosome pair 15\Deletion of part of chromosome 15 (disorder)\Partial deletion of long arm of chromosome 15 (disorder)\15q14 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 15 (disorder)\Partial deletion of long arm of chromosome 15 (disorder)\15q14 microdeletion syndrome (disorder)
• \Anomaly of chromosome pair 15\Deletion of part of chromosome 15 (disorder)\Partial deletion of long arm of chromosome 15 (disorder)\15q14 microdeletion syndrome (disorder)
• \Developmental disorder (disorder)\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\15q14 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
3313438012	15q14 microdeletion syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3313439016	15q14 microdeletion syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3314919018	Monosomy 15q14	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5402155017	15q14 microdeletion syndrome is a recently described syndrome characterized by developmental delay, short stature and facial dysmorphism.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5402156016	15q14 microdeletion syndrome is a recently described syndrome characterised by developmental delay, short stature and facial dysmorphism.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3313438012	15q14 microdeletion syndrome (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3313438012	15q14 microdeletion syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3313439016	15q14 microdeletion syndrome	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3313439016	15q14 microdeletion syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3314919018	Monosomy 15q14	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3314919018	Monosomy 15q14	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3317470013	A recently described syndrome with characteristics of developmental delay, short stature and facial dysmorphism. Dysmorphic features include bi-temporal narrowing, smooth philtrum, pointed chin and dysmorphic ears. All reported patients had a cleft palate, whereas congenital heart defects or epilepsy are observed in patients with large deletions. Deletions are located within chromosome band 15q14, distal to the Prader-Willi/Angelman region. They have a variable size with the smallest deletion being 1.6 Mb in length.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5402155017	15q14 microdeletion syndrome is a recently described syndrome characterized by developmental delay, short stature and facial dysmorphism.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5402156016	15q14 microdeletion syndrome is a recently described syndrome characterised by developmental delay, short stature and facial dysmorphism.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3448191001000112	Mikrodeletionssyndrom 15q14	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
940961000172113	del(15)(q14)	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
999411000172118	syndrome de microdélétion 15q14	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
940961000172113	del(15)(q14)	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
999411000172118	syndrome de microdélétion 15q14	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3448191001000112	Mikrodeletionssyndrom 15q14	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Reference Sets

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

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