1003909007: Proximal duplication 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\Proximal duplication of chromosome 13 (disorder)

\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 13\Proximal duplication of chromosome 13 (disorder)

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

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2021. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

4166945016 Proximal duplication of chromosome 13 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

4166946015 Proximal duplication of chromosome 13 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

4166945016 Proximal duplication of chromosome 13 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

4166946015 Proximal duplication of chromosome 13 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Proximal duplication of chromosome 13 (disorder)	Is a	Partial trisomy of chromosome 13	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Proximal duplication of chromosome 13 (disorder)	Finding site	Chromosome pair 13	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Proximal duplication of chromosome 13 (disorder)	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Proximal duplication of chromosome 13 (disorder)	Associated morphology	Partial trisomy	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1

Inbound Relationships

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Active

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Characteristic

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Reference Sets

Description inactivation indicator reference set