726352003: Partial trisomy of chromosome 13 (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 13\Partial trisomy of chromosome 13

\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 13

\Chromosomal disorder (disorder)\Autosomal chromosomal disorder (disorder)\Autosomal duplication (disorder)\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 13
\Chromosomal disorder (disorder)\Duplication of chromosome (disorder)\Autosomal duplication (disorder)\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 13
\Chromosomal disorder (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 13\Partial trisomy of chromosome 13
\Chromosomal disorder (disorder)\Congenital chromosomal disease\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 13

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

3498303019 Partial trisomy of chromosome 13 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3498304013 Duplication of chromosome 13 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3498305014 Partial trisomy of chromosome 13 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3498303019 Partial trisomy of chromosome 13 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3498304013 Duplication of chromosome 13 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3498305014 Partial trisomy of chromosome 13 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

5489581000241116 trisomie partielle du chromosome 13 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

5489581000241116 trisomie partielle du chromosome 13 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 13	Is a	Anomaly of chromosome pair 13	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Partial trisomy of chromosome 13	Is a	Trisomy and partial trisomy of autosome	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Partial trisomy of chromosome 13	Associated morphology	Partial trisomy	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Partial trisomy of chromosome 13	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Partial trisomy of chromosome 13	Finding site	Chromosome pair 13	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
13p partial trisomy syndrome	Is a	True	Partial trisomy of chromosome 13	Inferred relationship	Existential restriction modifier (core metadata concept)
13q partial trisomy syndrome	Is a	True	Partial trisomy of chromosome 13	Inferred relationship	Existential restriction modifier (core metadata concept)
Distal duplication of chromosome 13 (disorder)	Is a	True	Partial trisomy of chromosome 13	Inferred relationship	Existential restriction modifier (core metadata concept)
Medial duplication of chromosome 13 (disorder)	Is a	True	Partial trisomy of chromosome 13	Inferred relationship	Existential restriction modifier (core metadata concept)
Proximal duplication of chromosome 13 (disorder)	Is a	True	Partial trisomy of chromosome 13	Inferred relationship	Existential restriction modifier (core metadata concept)

This concept is not in any reference sets