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726402006: Uniparental disomy of paternal 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
3498339013 Uniparental disomy of paternal origin (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3498340010 Paternal uniparental disomy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3498341014 Uniparental disomy of paternal origin en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
7616771000241117 disomie uniparentale d'origine paternelle fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

13 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Uniparental disomy of paternal origin (disorder) Is a Uniparental disomy (disorder) true Inferred relationship Some
Uniparental disomy of paternal origin (disorder) Associated morphology Alteration of chromosome structure true Inferred relationship Some 1
Uniparental disomy of paternal origin (disorder) Occurrence Congenital true Inferred relationship Some 1
Uniparental disomy of paternal origin (disorder) Finding site Chromosome true Inferred relationship Some 1
Inbound Relationships Type Active Source Characteristic Refinability Group
Paternal uniparental disomy of chromosome 20 is a very rare chromosomal anomaly in which both copies of chromosome 20 are inherited from the father. The main features described are high birth weight and/or early-onset obesity, relative macrocephaly, and tall stature. Most patients were ascertained during sporadic pseudohypoparathyroidism type 1b testing and have UPD involving variable segments of the long arm of chromosome 20. Is a True Uniparental disomy of paternal origin (disorder) Inferred relationship Some
Paternal uniparental disomy of chromosome 21 is a uniparental disomy of paternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only father is a carrier. Is a True Uniparental disomy of paternal origin (disorder) Inferred relationship Some
Paternal uniparental disomy of chromosome 1 is a uniparental disomy of paternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only father is a carrier. Is a True Uniparental disomy of paternal origin (disorder) Inferred relationship Some
Paternal uniparental disomy of chromosome 7 is a uniparental disomy of paternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only father is a carrier (e.g., cystic fibrosis, congenital chloride diarrhea, sensorineural hearing loss). Is a True Uniparental disomy of paternal origin (disorder) Inferred relationship Some
Paternal uniparental disomy of chromosome 5 (disorder) Is a True Uniparental disomy of paternal origin (disorder) Inferred relationship Some
Paternal uniparental disomy of chromosome 6 is a uniparental disomy of paternal origin characterized by intrauterine growth retardation, transient neonatal diabetes mellitus, and macroglossia. Is a True Uniparental disomy of paternal origin (disorder) Inferred relationship Some
Paternal uniparental disomy of chromosome 13 is an uniparental disomy of paternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only father is a carrier. Is a True Uniparental disomy of paternal origin (disorder) Inferred relationship Some
A rare chromosomal anomaly characterized by a combination of paternal uniparental and biparental cell lineages, leading to variable clinical presentation that predominantly includes features of Beckwith-Wiedemann syndrome and increased risk of various tumors. In addition, features of Angelman syndrome and transient neonatal diabetes might be expected. Is a True Uniparental disomy of paternal origin (disorder) Inferred relationship Some
A uniparental disomy of paternal 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 father is a carrier and specific phenotype depends on the inherited disorder. Is a True Uniparental disomy of paternal origin (disorder) Inferred relationship Some
Paternal uniparental disomy of chromosome 4 Is a True Uniparental disomy of paternal origin (disorder) Inferred relationship Some
Paternal uniparental disomy of chromosome 15 Is a True Uniparental disomy of paternal origin (disorder) Inferred relationship Some
Paternal uniparental disomy of chromosome 14 Is a True Uniparental disomy of paternal origin (disorder) Inferred relationship Some
Paternal uniparental disomy of chromosome 11 Is a True Uniparental disomy of paternal origin (disorder) Inferred relationship Some

This concept is not in any reference sets

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