726400003: Uniparental disomy (disorder)

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

\Disorder of foetus and/or newborn\Congenital disease\Congenital chromosomal disease\Anomaly of chromosome pair\Uniparental disomy (disorder)

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

3448869014 Uniparental disomy (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3448870010 Uniparental disomy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3448869014 Uniparental disomy (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3448870010 Uniparental disomy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Uniparental disomy (disorder)	Is a	Anomaly of chromosome pair	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Uniparental disomy (disorder)	Is a	Autosomal chromosomal disorder (disorder)	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Uniparental disomy (disorder)	Associated morphology	Alteration of chromosome structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Uniparental disomy (disorder)	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Uniparental disomy (disorder)	Finding site	Chromosome	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Uniparental disomy of maternal origin (disorder)	Is a	True	Uniparental disomy (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Uniparental disomy of paternal origin (disorder)	Is a	True	Uniparental disomy (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)

This concept is not in any reference sets