767263007: 22q11.2 deletion 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 22\22q partial monosomy\22q11.2 deletion syndrome
• \Anomaly of chromosome pair 22\Deletion of part of chromosome 22\22q partial monosomy\22q11.2 deletion syndrome
• \Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\22q11.2 deletion 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 22\22q partial monosomy\22q11.2 deletion syndrome
• \Congenital disease\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 22\Deletion of part of chromosome 22\22q partial monosomy\22q11.2 deletion syndrome
• \Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\22q11.2 deletion syndrome

Status: current, Primitive. Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3670117015	Velocardiofacial syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3670118013	22q11.2 deletion syndrome (disorder)	en	Fully specified name	Active	Initial character case insensitive	SNOMED CT core
3670119017	Sedlackova syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3670120011	Conotruncal anomaly face syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3670121010	Cayler cardiofacial syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3670122015	DiGeorge syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3670123013	Shprintzen syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3670124019	22q11.2 deletion syndrome	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3670125018	DiGeorge sequence	en	Synonym	Active	Case sensitive	SNOMED CT core
3670126017	CATCH 22	en	Synonym	Active	Case sensitive	SNOMED CT core
3670127014	Microdeletion 22q11.2	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3670128016	Takao syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3670131015	A chromosomal anomaly that causes a congenital malformation disorder with common features that includes cardiac defects, palatal anomalies, facial dysmorphism, developmental delay and immune deficiency. The disease has a variable clinical phenotype that ranges from mild to severe. The broad spectrum of clinical phenotypes that the syndrome encompasses was previously divided into distinct syndromes (for example DiGeorge syndrome, velocardiofacial syndrome, cardiofacial syndrome) but are now known to be identical and are referred to as 22q11.2 deletion sydrome. In most cases, the syndrome is due to a 3 million base pair (Mb) deletion on the chromosomal region 22q11.2 that is flanked by low copy number repeats. The deletion is due to a non-allelic meiotic recombination during spermatogenesis or oogenesis. The variable expression of the 22q11.2 phenotype is thought to be due to genetic modifiers on either the other 22q11.2 allele or on other chromosomes. The deletion arises de novo in 90% of the cases.	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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