FHIR © HL7.org | Server Home | FHIR Server FHIR Server 3.7.24 | FHIR Version n/a User: [n/a]

783718003: Paternal uniparental disomy of chromosome X (disorder)

SNOMED CT Concept\Clinical finding (finding)\Disease\...

\Chromosomal disorder (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\...

\Uniparental disomy (disorder)\Uniparental disomy of paternal origin (disorder)\Paternal uniparental disomy of chromosome X

\Anomaly of sex chromosome\Anomaly of chromosome X\Paternal uniparental disomy of chromosome X

\Congenital disease (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\...

\Uniparental disomy (disorder)\Uniparental disomy of paternal origin (disorder)\Paternal uniparental disomy of chromosome X

\Anomaly of sex chromosome\Anomaly of chromosome X\Paternal uniparental disomy of chromosome X

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

3759925010 Paternal uniparental disomy of chromosome X en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3759926011 UPD(X)pat - paternal uniparental disomy of chromosome X en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

3759927019 Paternal uniparental disomy of chromosome X (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3759928012 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. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

14502201000172111 disomie uniparentale paternelle du chromosome X fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

4545421000172117 paternale uniparentale disomie van geslachtschromosoom X nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

4545431000172119 UPD(X)pat nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) Belgian module (core metadata concept)

4545441000172114 paternale uniparentale disomie van X-chromosoom nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Paternal uniparental disomy of chromosome X	Is a	Anomaly of chromosome X	true	Inferred relationship	Some
Paternal uniparental disomy of chromosome X	Is a	Uniparental disomy of paternal origin (disorder)	true	Inferred relationship	Some
Paternal uniparental disomy of chromosome X	Associated morphology	Alteration of chromosome structure	true	Inferred relationship	Some	1
Paternal uniparental disomy of chromosome X	Occurrence	Congenital	true	Inferred relationship	Some	1
Paternal uniparental disomy of chromosome X	Finding site	Sex chromosome X	true	Inferred relationship	Some	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3759925010	Paternal uniparental disomy of chromosome X	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3759926011	UPD(X)pat - paternal uniparental disomy of chromosome X	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3759927019	Paternal uniparental disomy of chromosome X (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3759928012	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.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
14502201000172111	disomie uniparentale paternelle du chromosome X	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
4545421000172117	paternale uniparentale disomie van geslachtschromosoom X	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
4545431000172119	UPD(X)pat	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	Belgian module (core metadata concept)
4545441000172114	paternale uniparentale disomie van X-chromosoom	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)