726351005: Partial trisomy of chromosome 12 (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 12\Trisomy 12 (disorder)\Partial trisomy of chromosome 12 (disorder)

\Trisomy and partial trisomy of autosome\Trisomy 12 (disorder)\Partial trisomy of chromosome 12 (disorder)

\Chromosomal disorder (disorder)\Autosomal chromosomal disorder (disorder)\Autosomal duplication (disorder)\Trisomy and partial trisomy of autosome\Trisomy 12 (disorder)\Partial trisomy of chromosome 12 (disorder)
\Chromosomal disorder (disorder)\Duplication of chromosome (disorder)\Autosomal duplication (disorder)\Trisomy and partial trisomy of autosome\Trisomy 12 (disorder)\Partial trisomy of chromosome 12 (disorder)
\Chromosomal disorder (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 12\Trisomy 12 (disorder)\Partial trisomy of chromosome 12 (disorder)
\Chromosomal disorder (disorder)\Congenital chromosomal disease\Trisomy and partial trisomy of autosome\Trisomy 12 (disorder)\Partial trisomy of chromosome 12 (disorder)

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

3498300016 Partial trisomy of chromosome 12 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3498301017 Duplication of chromosome 12 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3498302012 Partial trisomy of chromosome 12 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3498300016 Partial trisomy of chromosome 12 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3498301017 Duplication of chromosome 12 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3498302012 Partial trisomy of chromosome 12 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

5489561000241114 trisomie partielle du chromosome 12 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

5489561000241114 trisomie partielle du chromosome 12 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 12 (disorder)	Is a	Anomaly of chromosome pair 12	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Partial trisomy of chromosome 12 (disorder)	Is a	Trisomy and partial trisomy of autosome	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Partial trisomy of chromosome 12 (disorder)	Associated morphology	Partial trisomy	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Partial trisomy of chromosome 12 (disorder)	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Partial trisomy of chromosome 12 (disorder)	Finding site	Chromosome pair 12	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Partial trisomy of chromosome 12 (disorder)	Is a	Trisomy 12 (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
12p partial trisomy syndrome	Is a	True	Partial trisomy of chromosome 12 (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
12q partial trisomy syndrome	Is a	True	Partial trisomy of chromosome 12 (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)

This concept is not in any reference sets