726353008: Partial trisomy of chromosome 14 (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 14\Partial trisomy of chromosome 14

\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 14

\Chromosomal disorder (disorder)\Autosomal chromosomal disorder (disorder)\Autosomal duplication (disorder)\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 14
\Chromosomal disorder (disorder)\Duplication of chromosome (disorder)\Autosomal duplication (disorder)\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 14
\Chromosomal disorder (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 14\Partial trisomy of chromosome 14
\Chromosomal disorder (disorder)\Congenital chromosomal disease\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 14

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

3498306010 Partial trisomy of chromosome 14 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3498307018 Duplication of chromosome 14 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3498308011 Partial trisomy of chromosome 14 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3498306010 Partial trisomy of chromosome 14 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3498307018 Duplication of chromosome 14 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3498308011 Partial trisomy of chromosome 14 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

5489601000241114 trisomie partielle du chromosome 14 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

5489601000241114 trisomie partielle du chromosome 14 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 14	Is a	Anomaly of chromosome pair 14	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Partial trisomy of chromosome 14	Is a	Trisomy and partial trisomy of autosome	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Partial trisomy of chromosome 14	Associated morphology	Partial trisomy	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Partial trisomy of chromosome 14	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Partial trisomy of chromosome 14	Finding site	Chromosome pair 14 (cell structure)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
14q partial trisomy (disorder)	Is a	True	Partial trisomy of chromosome 14	Inferred relationship	Existential restriction modifier (core metadata concept)
Distal duplication of chromosome 14 (disorder)	Is a	True	Partial trisomy of chromosome 14	Inferred relationship	Existential restriction modifier (core metadata concept)
Medial duplication of chromosome 14 (disorder)	Is a	True	Partial trisomy of chromosome 14	Inferred relationship	Existential restriction modifier (core metadata concept)
Proximal duplication of chromosome 14 (disorder)	Is a	True	Partial trisomy of chromosome 14	Inferred relationship	Existential restriction modifier (core metadata concept)

This concept is not in any reference sets