783735004: Maternal uniparental disomy of chromosome X (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 X
• \Anomaly of sex chromosome\Anomaly of chromosome X\Maternal uniparental disomy of chromosome X
• \Congenital disease\Congenital chromosomal disease\Anomaly of chromosome pair\...
• \Uniparental disomy\Uniparental disomy of maternal origin\Maternal uniparental disomy of chromosome X
• \Anomaly of sex chromosome\Anomaly of chromosome X\Maternal uniparental disomy of chromosome X

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3760087012	UPD(X)mat - maternal uniparental disomy of chromosome X	en	Synonym	Active	Case sensitive	SNOMED CT core
3760088019	Maternal uniparental disomy of chromosome X (disorder)	en	Fully specified name	Active	Initial character case insensitive	SNOMED CT core
3760089010	Maternal uniparental disomy of chromosome X	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3760090018	A uniparental disomy of maternal origin that does not seem to have an adverse impact on the phenotype of an individual. There is a possibility of homozygosity for a recessive disease mutation for which the mother is a carrier and specific phenotype depends on the inherited disorder.	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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