715735007: Maternal 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 maternal origin\Maternal uniparental disomy of chromosome 20
• \Anomaly of chromosome pair 20\Maternal uniparental disomy of chromosome 20
• \Congenital disease\Congenital chromosomal disease\Anomaly of chromosome pair\...
• \Uniparental disomy\Uniparental disomy of maternal origin\Maternal uniparental disomy of chromosome 20
• \Anomaly of chromosome pair 20\Maternal uniparental disomy of chromosome 20

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3303561019	Maternal uniparental disomy of chromosome 20 (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3303562014	Maternal uniparental disomy of chromosome 20	en	Synonym	Active	Case insensitive	SNOMED CT core
3303563016	Maternal UPD20 (uniparental disomy of chromosome 20)	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3303564010	A very rare chromosomal anomaly in which both copies of chromosome 20 are inherited from the mother. The main feature described is prenatal and postnatal growth retardation. Microcephaly, minor dysmorphic features and psychomotor developmental delay have been occasionally reported. Maternal UPD20 is most often ascertained by a mosaic trisomy 20 pregnancy.	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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