1003871005: paternale uniparentale disomie van chromosoom 15 (aandoening)

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

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

\Uniparental disomy (disorder)\Uniparental disomy of paternal origin (disorder)\Paternal uniparental disomy of chromosome 15

\Anomaly of chromosome pair 15\Paternal uniparental disomy of chromosome 15

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

\Uniparental disomy (disorder)\Uniparental disomy of paternal origin (disorder)\Paternal uniparental disomy of chromosome 15

\Anomaly of chromosome pair 15\Paternal uniparental disomy of chromosome 15

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2021. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

4166863015 Paternal uniparental disomy of chromosome 15 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

4167336017 Uniparental disomy of paternal origin of chromosome 15 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

4167337014 Uniparental disomy of paternal origin of chromosome 15 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

12052041000146114 paternale uniparentale disomie van chromosoom 15 nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

12052051000146112 paternale uniparentale disomie van chromosoom 15 (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Paternal uniparental disomy of chromosome 15	Is a	Uniparental disomy of paternal origin (disorder)	true	Inferred relationship	Some
Paternal uniparental disomy of chromosome 15	Is a	Anomaly of chromosome pair 15	true	Inferred relationship	Some
Paternal uniparental disomy of chromosome 15	Occurrence	Congenital	true	Inferred relationship	Some	1
Paternal uniparental disomy of chromosome 15	Associated morphology	Alteration of chromosome structure	true	Inferred relationship	Some	1
Paternal uniparental disomy of chromosome 15	Finding site	Chromosome pair 15	true	Inferred relationship	Some	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets