726355001: Partial trisomy of chromosome 16 (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 16\Partial trisomy of chromosome 16

\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 16

\Chromosomal disorder (disorder)\Autosomal chromosomal disorder (disorder)\Autosomal duplication (disorder)\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 16
\Chromosomal disorder (disorder)\Duplication of chromosome (disorder)\Autosomal duplication (disorder)\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 16
\Chromosomal disorder (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 16\Partial trisomy of chromosome 16
\Chromosomal disorder (disorder)\Congenital chromosomal disease\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 16

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

3498312017 Duplication of chromosome 16 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3498313010 Partial trisomy of chromosome 16 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3498314016 Partial trisomy of chromosome 16 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3498312017 Duplication of chromosome 16 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3498313010 Partial trisomy of chromosome 16 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3498314016 Partial trisomy of chromosome 16 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

5489641000241112 trisomie partielle du chromosome 16 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

5489641000241112 trisomie partielle du chromosome 16 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 16	Is a	Anomaly of chromosome pair 16	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Partial trisomy of chromosome 16	Is a	Trisomy and partial trisomy of autosome	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Partial trisomy of chromosome 16	Associated morphology	Partial trisomy	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Partial trisomy of chromosome 16	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Partial trisomy of chromosome 16	Finding site	Chromosome pair 16 (cell structure)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
16q partial trisomy syndrome	Is a	False	Partial trisomy of chromosome 16	Inferred relationship	Existential restriction modifier (core metadata concept)
16p partial trisomy syndrome	Is a	False	Partial trisomy of chromosome 16	Inferred relationship	Existential restriction modifier (core metadata concept)
Duplication of part of short arm of chromosome 16	Is a	True	Partial trisomy of chromosome 16	Inferred relationship	Existential restriction modifier (core metadata concept)
Duplication of part of long arm of chromosome 16 (disorder)	Is a	True	Partial trisomy of chromosome 16	Inferred relationship	Existential restriction modifier (core metadata concept)

This concept is not in any reference sets