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726401004: Uniparental disomy of maternal origin (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3498336018 Uniparental disomy of maternal origin (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3498337010 Uniparental disomy of maternal origin en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3498338017 Maternal uniparental disomy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
7616751000241110 disomie uniparentale d'origine maternelle fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

15 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Uniparental disomy of maternal origin (disorder) Is a Uniparental disomy (disorder) true Inferred relationship Some
Uniparental disomy of maternal origin (disorder) Associated morphology Alteration of chromosome structure true Inferred relationship Some 1
Uniparental disomy of maternal origin (disorder) Occurrence Congenital true Inferred relationship Some 1
Uniparental disomy of maternal origin (disorder) Finding site Chromosome true Inferred relationship Some 1
Inbound Relationships Type Active Source Characteristic Refinability Group
Maternal uniparental disomy of chromosome 20 (UPD 20) is 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. Is a True Uniparental disomy of maternal origin (disorder) Inferred relationship Some
Maternal uniparental disomy of chromosome 2 is an uniparental disomy of maternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only mother is a carrier. Is a True Uniparental disomy of maternal origin (disorder) Inferred relationship Some
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. Is a True Uniparental disomy of maternal origin (disorder) Inferred relationship Some
Maternal uniparental disomy of chromosome 9 is a uniparental disomy of maternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only mother is a carrier. Is a True Uniparental disomy of maternal origin (disorder) Inferred relationship Some
Maternal uniparental disomy of chromosome 4 is an uniparental disomy of maternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only mother is a carrier. Is a True Uniparental disomy of maternal origin (disorder) Inferred relationship Some
Maternal uniparental disomy of chromosome 1 (disorder) Is a True Uniparental disomy of maternal origin (disorder) Inferred relationship Some
Maternal uniparental disomy of chromosome 13 is a uniparental disomy of maternal origin that most likely do not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only mother is a carrier. Is a True Uniparental disomy of maternal origin (disorder) Inferred relationship Some
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. Is a True Uniparental disomy of maternal origin (disorder) Inferred relationship Some
Maternal uniparental disomy of chromosome 21 is 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. Is a True Uniparental disomy of maternal origin (disorder) Inferred relationship Some
Maternal uniparental disomy of chromosome 22 is 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. Is a True Uniparental disomy of maternal origin (disorder) Inferred relationship Some
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. Is a True Uniparental disomy of maternal origin (disorder) Inferred relationship Some
Maternal uniparental disomy of chromosome 15 Is a True Uniparental disomy of maternal origin (disorder) Inferred relationship Some
Maternal uniparental disomy of chromosome 11 Is a True Uniparental disomy of maternal origin (disorder) Inferred relationship Some
Maternal uniparental disomy of chromosome 14 Is a True Uniparental disomy of maternal origin (disorder) Inferred relationship Some
Maternal uniparental disomy of chromosome 7 (disorder) Is a True Uniparental disomy of maternal origin (disorder) Inferred relationship Some

This concept is not in any reference sets

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