783149002: Mosaic genome-wide paternal uniparental disomy (disorder)

• SNOMED CT Concept\Clinical finding\Disease\...
• \Chromosomal disorder\Congenital chromosomal disease\Anomaly of chromosome pair\Uniparental disomy\Uniparental disomy of paternal origin\Mosaic genome-wide paternal uniparental disomy
• \Congenital disease\Congenital chromosomal disease\Anomaly of chromosome pair\Uniparental disomy\Uniparental disomy of paternal origin\Mosaic genome-wide paternal uniparental disomy

Status: current, Primitive. Date: 31-Jul 2019. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3757844013	Mosaic genome-wide paternal uniparental disomy	en	Synonym	Active	Case insensitive	SNOMED CT core
3757845014	Genome-wide paternal uniparental disomy mosaicism	en	Synonym	Active	Case insensitive	SNOMED CT core
3757846010	Mosaic genome-wide paternal uniparental disomy (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3757847018	A rare chromosomal anomaly with characteristics of a combination of paternal uniparental and biparental cell lineages, leading to variable clinical presentation that predominantly includes features of Beckwith-Wiedemann syndrome and increased risk of various neoplasms. In addition, features of Angelman syndrome and transient neonatal diabetes might be expected.	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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