FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.4-SNAPSHOT  |  FHIR Version n/a  User: [n/a]

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
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

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 Existential restriction modifier (core metadata concept)
Uniparental disomy of paternal origin (disorder) Associated morphology Alteration of chromosome structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Uniparental disomy of paternal origin (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Uniparental disomy of paternal origin (disorder) Finding site Chromosome true Inferred relationship Existential restriction modifier (core metadata concept) 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 Existential restriction modifier (core metadata concept)
Paternal uniparental disomy of chromosome 21 Is a True Uniparental disomy of paternal origin (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Paternal uniparental disomy of chromosome 1 (disorder) Is a True Uniparental disomy of paternal origin (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Paternal uniparental disomy of chromosome 7 Is a True Uniparental disomy of paternal origin (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Paternal uniparental disomy of chromosome 5 Is a True Uniparental disomy of paternal origin (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Paternal uniparental disomy of chromosome 6 is a uniparental disomy of paternal origin characterised by intrauterine growth retardation, transient neonatal diabetes mellitus, and macroglossia. Is a True Uniparental disomy of paternal origin (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
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 Existential restriction modifier (core metadata concept)
Mosaic genome-wide paternal uniparental disomy Is a True Uniparental disomy of paternal origin (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Paternal uniparental disomy of chromosome X Is a True Uniparental disomy of paternal origin (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Paternal uniparental disomy of chromosome 4 Is a True Uniparental disomy of paternal origin (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Paternal uniparental disomy of chromosome 15 Is a True Uniparental disomy of paternal origin (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Paternal uniparental disomy of chromosome 14 Is a True Uniparental disomy of paternal origin (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Uniparental disomy of paternal origin of chromosome 11 (disorder) Is a True Uniparental disomy of paternal origin (disorder) Inferred relationship Existential restriction modifier (core metadata concept)

This concept is not in any reference sets

Back to Start