719660008: 4q21 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 4\4q partial monosomy syndrome\4q21 microdeletion syndrome
• \Anomaly of chromosome pair 4\Deletion of part of chromosome 4\4q partial monosomy syndrome\4q21 microdeletion syndrome
• \Congenital disease\Congenital chromosomal disease\Anomaly of chromosome pair\...
• \Monosomy and deletion from autosome\Deletion of part of autosome\Deletion of part of chromosome 4\4q partial monosomy syndrome\4q21 microdeletion syndrome
• \Anomaly of chromosome pair 4\Deletion of part of chromosome 4\4q partial monosomy syndrome\4q21 microdeletion syndrome

Status: current, Primitive. Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3317281013	4q21 microdeletion syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3317282018	4q21 microdeletion syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3317283011	Monosomy 4q21	en	Synonym	Active	Case insensitive	SNOMED CT core
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	Active	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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