726356000: Partial trisomy of chromosome 17 (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 17 (disorder)\Partial trisomy of chromosome 17 (disorder)

\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 17 (disorder)

\Chromosomal disorder (disorder)\Autosomal chromosomal disorder (disorder)\Autosomal duplication (disorder)\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 17 (disorder)
\Chromosomal disorder (disorder)\Duplication of chromosome (disorder)\Autosomal duplication (disorder)\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 17 (disorder)
\Chromosomal disorder (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 17 (disorder)\Partial trisomy of chromosome 17 (disorder)
\Chromosomal disorder (disorder)\Congenital chromosomal disease\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 17 (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

3498315015 Partial trisomy of chromosome 17 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3498316019 Duplication of chromosome 17 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3498317011 Partial trisomy of chromosome 17 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3498315015 Partial trisomy of chromosome 17 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3498316019 Duplication of chromosome 17 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3498317011 Partial trisomy of chromosome 17 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

5489661000241113 trisomie partielle du chromosome 17 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

5489661000241113 trisomie partielle du chromosome 17 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 17 (disorder)	Is a	Anomaly of chromosome pair 17 (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Partial trisomy of chromosome 17 (disorder)	Is a	Trisomy and partial trisomy of autosome	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Partial trisomy of chromosome 17 (disorder)	Associated morphology	Partial trisomy	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Partial trisomy of chromosome 17 (disorder)	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Partial trisomy of chromosome 17 (disorder)	Finding site	Chromosome pair 17 (cell structure)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
17q partial trisomy syndrome	Is a	True	Partial trisomy of chromosome 17 (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
17p partial trisomy syndrome	Is a	True	Partial trisomy of chromosome 17 (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)

This concept is not in any reference sets