1162463004: Partial duplication of long arm of chromosome 15 (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 15\Partial trisomy of chromosome 15 (disorder)\Partial duplication of long arm of chromosome 15

\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 15 (disorder)\Partial duplication of long arm of chromosome 15

\Chromosomal disorder (disorder)\Autosomal chromosomal disorder (disorder)\Autosomal duplication (disorder)\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 15 (disorder)\Partial duplication of long arm of chromosome 15
\Chromosomal disorder (disorder)\Duplication of chromosome (disorder)\Autosomal duplication (disorder)\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 15 (disorder)\Partial duplication of long arm of chromosome 15
\Chromosomal disorder (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 15\Partial trisomy of chromosome 15 (disorder)\Partial duplication of long arm of chromosome 15
\Chromosomal disorder (disorder)\Congenital chromosomal disease\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 15 (disorder)\Partial duplication of long arm of chromosome 15

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Sep 2021. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

4589479014 Partial duplication of long arm of chromosome 15 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

4589480012 Partial duplication of long arm of chromosome 15 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

4589479014 Partial duplication of long arm of chromosome 15 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

4589480012 Partial duplication of long arm of chromosome 15 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

6973021000241119 duplication partielle du bras long du chromosome 15 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

6973021000241119 duplication partielle du bras long du chromosome 15 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 duplication of long arm of chromosome 15	Is a	Partial trisomy of chromosome 15 (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Partial duplication of long arm of chromosome 15	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Partial duplication of long arm of chromosome 15	Finding site	Long arm of chromosome (cell structure)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Partial duplication of long arm of chromosome 15	Associated morphology	Partial trisomy	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Partial duplication of long arm of chromosome 15	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Partial duplication of long arm of chromosome 15	Finding site	Chromosome pair 15	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Partial duplication of long arm of chromosome 15	Associated morphology	Partial trisomy	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
15q13.3 microduplication syndrome (disorder)	Is a	True	Partial duplication of long arm of chromosome 15	Inferred relationship	Existential restriction modifier (core metadata concept)
15q overgrowth syndrome (disorder)	Is a	True	Partial duplication of long arm of chromosome 15	Inferred relationship	Existential restriction modifier (core metadata concept)
15q11q13 microduplication syndrome (disorder)	Is a	True	Partial duplication of long arm of chromosome 15	Inferred relationship	Existential restriction modifier (core metadata concept)

This concept is not in any reference sets