766239009: Maternal uniparental disomy of chromosome 6 (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 6 is a uniparental disomy of maternal origin characterized by intrauterine growth retardation. Homozygosity for a recessive disease mutation for which only a mother is a carrier may lead to other phenotypes.
• \Anomaly of chromosome pair 6\Maternal uniparental disomy of chromosome 6 is a uniparental disomy of maternal origin characterized by intrauterine growth retardation. Homozygosity for a recessive disease mutation for which only a mother is a carrier may lead to other phenotypes.
• \Chromosomal disorder (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\...
• \Uniparental disomy (disorder)\Uniparental disomy of maternal origin (disorder)\Maternal uniparental disomy of chromosome 6 is a uniparental disomy of maternal origin characterized by intrauterine growth retardation. Homozygosity for a recessive disease mutation for which only a mother is a carrier may lead to other phenotypes.
• \Anomaly of chromosome pair 6\Maternal uniparental disomy of chromosome 6 is a uniparental disomy of maternal origin characterized by intrauterine growth retardation. Homozygosity for a recessive disease mutation for which only a mother is a carrier may lead to other phenotypes.

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
5404599018	Maternal uniparental disomy of chromosome 6 is a uniparental disomy of maternal origin characterized by intrauterine growth retardation. Homozygosity for a recessive disease mutation for which only a mother is a carrier may lead to other phenotypes.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5404600015	Maternal uniparental disomy of chromosome 6 is a uniparental disomy of maternal origin characterised by intrauterine growth retardation. Homozygosity for a recessive disease mutation for which only a mother is a carrier may lead to other phenotypes.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3661202016	Maternal uniparental disomy of chromosome 6 (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3661203014	Maternal uniparental disomy of chromosome 6	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
938681000172113	disomie uniparentale maternelle du chromosome 6	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3445881001000111	Uniparentale Disomie 6, 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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