773299000: Maternal uniparental disomy of chromosome 16 (disorder)

• SNOMED CT Concept\Clinical finding (finding)\Disease\...
• \Fetal and/or neonatal disorder\Congenital disease\Congenital chromosomal disease\Anomaly of chromosome pair\...
• \Uniparental disomy (disorder)\Uniparental disomy of maternal origin (disorder)\Maternal uniparental disomy of chromosome 16 is a uniparental disomy of maternal origin which might be associated with intrauterine growth retardation and an elevated risk of congenital malformations. Healthy carriers have also been reported. In addition, cases of homozygosity for a recessive disease mutation for which the mother was a carrier have been described, and specific phenotype depends on the inherited disorder.
• \Anomaly of chromosome pair 16\Maternal uniparental disomy of chromosome 16 is a uniparental disomy of maternal origin which might be associated with intrauterine growth retardation and an elevated risk of congenital malformations. Healthy carriers have also been reported. In addition, cases of homozygosity for a recessive disease mutation for which the mother was a carrier have been described, and specific phenotype depends on the inherited disorder.
• \Chromosomal disorder (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\...
• \Uniparental disomy (disorder)\Uniparental disomy of maternal origin (disorder)\Maternal uniparental disomy of chromosome 16 is a uniparental disomy of maternal origin which might be associated with intrauterine growth retardation and an elevated risk of congenital malformations. Healthy carriers have also been reported. In addition, cases of homozygosity for a recessive disease mutation for which the mother was a carrier have been described, and specific phenotype depends on the inherited disorder.
• \Anomaly of chromosome pair 16\Maternal uniparental disomy of chromosome 16 is a uniparental disomy of maternal origin which might be associated with intrauterine growth retardation and an elevated risk of congenital malformations. Healthy carriers have also been reported. In addition, cases of homozygosity for a recessive disease mutation for which the mother was a carrier have been described, and specific phenotype depends on the inherited 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
5405192012	Maternal uniparental disomy of chromosome 16 is a uniparental disomy of maternal origin which might be associated with intrauterine growth retardation and an elevated risk of congenital malformations. Healthy carriers have also been reported. In addition, cases of homozygosity for a recessive disease mutation for which the mother was a carrier have been described, and specific phenotype depends on the inherited disorder.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3723035011	Maternal uniparental disomy of chromosome 16 (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3723036012	Maternal uniparental disomy of chromosome 16	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
928271000172111	disomie uniparentale maternelle du chromosome 16	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3447671001000116	Uniparentale Disomie 16, maternale	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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