715736008: Paternal uniparental disomy of chromosome 20 (disorder)

• SNOMED CT Concept\Clinical finding\Disease\...
• \Chromosomal disorder\Congenital chromosomal disease\Anomaly of chromosome pair\...
• \Uniparental disomy\Uniparental disomy of paternal origin\Paternal uniparental disomy of chromosome 20
• \Anomaly of chromosome pair 20\Paternal uniparental disomy of chromosome 20
• \Congenital disease\Congenital chromosomal disease\Anomaly of chromosome pair\...
• \Uniparental disomy\Uniparental disomy of paternal origin\Paternal uniparental disomy of chromosome 20
• \Anomaly of chromosome pair 20\Paternal uniparental disomy of chromosome 20

Status: current, Defined. Date: 31-Jul 2021. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3303565011	Paternal uniparental disomy of chromosome 20 (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3303566012	Paternal uniparental disomy of chromosome 20	en	Synonym	Active	Case insensitive	SNOMED CT core
3303567015	Paternal UPD20 (uniparental disomy of chromosome 20)	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3303568013	A very rare chromosomal anomaly in which both copies of chromosome 20 are inherited from the father. The main features described are high birth weight and/or early-onset obesity, relative macrocephaly, and tall stature. Most patients were ascertained through sporadic pseudohypoparathyroidism type 1b and have paternal UPD20 involving variable segments of the long arm of chromosome 20.	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

Back to Start