726361003: Partial trisomy of chromosome 21 (disorder)

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

\Disorder of foetus and/or newborn\Congenital disease\Congenital chromosomal disease\...

\Anomaly of chromosome pair\Anomaly of chromosome pair 21\Partial trisomy of chromosome 21

\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 21

\Chromosomal disorder (disorder)\Autosomal chromosomal disorder (disorder)\Autosomal duplication (disorder)\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 21
\Chromosomal disorder (disorder)\Duplication of chromosome (disorder)\Autosomal duplication (disorder)\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 21
\Chromosomal disorder (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 21\Partial trisomy of chromosome 21
\Chromosomal disorder (disorder)\Congenital chromosomal disease\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 21

Status: current, 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

3498330012 Duplication of chromosome 21 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3498331011 Partial trisomy of chromosome 21 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3498332016 Partial trisomy of chromosome 21 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3498330012 Duplication of chromosome 21 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3498331011 Partial trisomy of chromosome 21 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3498332016 Partial trisomy of chromosome 21 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

5489741000241115 trisomie partielle du chromosome 21 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

5489741000241115 trisomie partielle du chromosome 21 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Partial trisomy of chromosome 21	Is a	Anomaly of chromosome pair 21	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Partial trisomy of chromosome 21	Is a	Trisomy and partial trisomy of autosome	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Partial trisomy of chromosome 21	Associated morphology	Partial trisomy	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Partial trisomy of chromosome 21	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Partial trisomy of chromosome 21	Finding site	Chromosome pair 21	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Proximal duplication of chromosome 21 (disorder)	Is a	True	Partial trisomy of chromosome 21	Inferred relationship	Existential restriction modifier (core metadata concept)
21q partial trisomy	Is a	True	Partial trisomy of chromosome 21	Inferred relationship	Existential restriction modifier (core metadata concept)
Partial trisomy 21 in Down's syndrome	Is a	True	Partial trisomy of chromosome 21	Inferred relationship	Existential restriction modifier (core metadata concept)
Distal duplication of chromosome 21	Is a	True	Partial trisomy of chromosome 21	Inferred relationship	Existential restriction modifier (core metadata concept)

This concept is not in any reference sets