783735004: Maternal uniparental disomy of chromosome X (disorder)

• SNOMED CT Concept\Clinical finding (finding)\Disease\...
• \Chromosomal disorder (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\...
• \Uniparental disomy (disorder)\Uniparental disomy of maternal origin (disorder)\Maternal uniparental disomy of chromosome X (disorder)
• \Anomaly of sex chromosome\Anomaly of chromosome X\Maternal uniparental disomy of chromosome X (disorder)
• \Congenital disease (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\...
• \Uniparental disomy (disorder)\Uniparental disomy of maternal origin (disorder)\Maternal uniparental disomy of chromosome X (disorder)
• \Anomaly of sex chromosome\Anomaly of chromosome X\Maternal uniparental disomy of chromosome X (disorder)

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). 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 (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3760088019	Maternal uniparental disomy of chromosome X (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3760089010	Maternal uniparental disomy of chromosome X	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	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	Entire term case sensitive (core metadata concept)	SNOMED CT core
14048761000172113	disomie uniparentale chez la mère du chromosome sexuel X	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
14048771000172116	disomie uniparentale chez la mère du chromosome X	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
14048781000172118	disomie uniparentale maternelle du chromosome X	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
5281021000172119	UPD(X)mat	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	Belgian module (core metadata concept)
5281031000172116	maternale uniparentale disomie van geslachtschromosoom X	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
5281041000172111	maternale uniparentale disomie van X-chromosoom	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)

Expanded Value Set

This concept is not in any reference sets

Back to Start