719660008: 4q21 microdeletion syndrome (disorder)

• SNOMED CT Concept\Clinical finding (finding)\Disease\...
• \Disorder of foetus and/or newborn\Congenital disease\Congenital disorder due to abnormality of chromosome number OR structure (disorder)\Anomaly of chromosome pair\...
• \Monosomy and deletion from autosome\Deletion of part of autosome\Deletion of part of chromosome 4 (disorder)\4q partial monosomy syndrome\The 4q21 microdeletion syndrome is a newly described syndrome associated with facial dysmorphism, progressive growth restriction, severe intellectual deficit and absent or severely delayed speech.
• \Anomaly of chromosome pair 4\Deletion of part of chromosome 4 (disorder)\4q partial monosomy syndrome\The 4q21 microdeletion syndrome is a newly described syndrome associated with facial dysmorphism, progressive growth restriction, severe intellectual deficit and absent or severely delayed speech.
• \Chromosomal disorder (disorder)\Congenital disorder due to abnormality of chromosome number OR structure (disorder)\Anomaly of chromosome pair\...
• \Monosomy and deletion from autosome\Deletion of part of autosome\Deletion of part of chromosome 4 (disorder)\4q partial monosomy syndrome\The 4q21 microdeletion syndrome is a newly described syndrome associated with facial dysmorphism, progressive growth restriction, severe intellectual deficit and absent or severely delayed speech.
• \Anomaly of chromosome pair 4\Deletion of part of chromosome 4 (disorder)\4q partial monosomy syndrome\The 4q21 microdeletion syndrome is a newly described syndrome associated with facial dysmorphism, progressive growth restriction, severe intellectual deficit and absent or severely delayed speech.

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
3317284017	A newly described syndrome associated with facial dysmorphism, progressive growth restriction, severe intellectual deficit and absent or severely delayed speech. It has been reported in nine unrelated patients. The most common facial feature includes high or broad forehead, hypertelorism and short philtrum. Short hands and feet are frequently observed. The microdeletion critical region encompasses two candidate genes, PRKG2 and RASGEF1B, in which haploinsufficiency could participate to the phenotype.	en	Definition	Inactive	Entire term case sensitive (core metadata concept)	SNOMED CT core
5402192017	The 4q21 microdeletion syndrome is a newly described syndrome associated with facial dysmorphism, progressive growth restriction, severe intellectual deficit and absent or severely delayed speech.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3317281013	4q21 microdeletion syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3317282018	4q21 microdeletion syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3317283011	Monosomy 4q21	en	Synonym (core metadata concept)	Active	Entire term case insensitive (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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