719650004: 20p12.3 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 20\Deletion of part of short arm of chromosome 20\20p12.3 microdeletion syndrome
• \Anomaly of chromosome pair 20\Deletion of part of chromosome 20\Deletion of part of short arm of chromosome 20\20p12.3 microdeletion syndrome
• \Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\20p12.3 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 20\Deletion of part of short arm of chromosome 20\20p12.3 microdeletion syndrome
• \Congenital disease\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 20\Deletion of part of chromosome 20\Deletion of part of short arm of chromosome 20\20p12.3 microdeletion syndrome
• \Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\20p12.3 microdeletion syndrome

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3317243015	20p12.3 microdeletion syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3317244014	20p12.3 microdeletion syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3317245010	Monosomy 20p12.3	en	Synonym	Active	Case insensitive	SNOMED CT core
3317246011	A recently described syndrome with characteristics of Wolff-Parkinson-White syndrome, variable developmental delay and facial dysmorphism. Dysmorphic features include macrocephaly, hypertelorism, down-slanting palpebral fissures and microstomia. This syndrome is caused by an interstitial deletion encompassing 20p12.3. All these deletions except one occurred de novo and have a variable size with the smallest region of overlap including only one gene, BMP2, which is a good candidate gene for explaining the phenotype of Wolff-Parkinson-White syndrome.	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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