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726344001: partiële trisomie van lange arm van chromosoom 5 (aandoening)

SNOMED CT Concept\Clinical finding (finding)\Disease\...

\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital chromosomal disease\...

\Anomaly of chromosome pair\Anomaly of chromosome pair 5\Partial trisomy of chromosome 5\Partial trisomy of long arm of chromosome 5

\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 5\Partial trisomy of long arm of chromosome 5

\Chromosomal disorder (disorder)\Autosomal chromosomal disorder (disorder)\Autosomal duplication (disorder)\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 5\Partial trisomy of long arm of chromosome 5
\Chromosomal disorder (disorder)\Duplication of chromosome\Autosomal duplication (disorder)\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 5\Partial trisomy of long arm of chromosome 5
\Chromosomal disorder (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 5\Partial trisomy of chromosome 5\Partial trisomy of long arm of chromosome 5
\Chromosomal disorder (disorder)\Congenital chromosomal disease\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 5\Partial trisomy of long arm of chromosome 5

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Partial trisomy of long arm of chromosome 5	Is a	Partial trisomy of chromosome 5	true	Inferred relationship	Some
Partial trisomy of long arm of chromosome 5	Associated morphology	Partial trisomy	true	Inferred relationship	Some	2
Partial trisomy of long arm of chromosome 5	Occurrence	Congenital	true	Inferred relationship	Some	2
Partial trisomy of long arm of chromosome 5	Associated morphology	Partial trisomy	true	Inferred relationship	Some	3
Partial trisomy of long arm of chromosome 5	Occurrence	Congenital	true	Inferred relationship	Some	3
Partial trisomy of long arm of chromosome 5	Finding site	Chromosome pair 5	true	Inferred relationship	Some	2
Partial trisomy of long arm of chromosome 5	Finding site	Long arm of chromosome	true	Inferred relationship	Some	3

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
5q35 microduplication syndrome (disorder)	Is a	True	Partial trisomy of long arm of chromosome 5	Inferred relationship	Some
Distal trisomy 5q syndrome (disorder)	Is a	True	Partial trisomy of long arm of chromosome 5	Inferred relationship	Some
Proximal duplication of long arm of chromosome 5 (disorder)	Is a	True	Partial trisomy of long arm of chromosome 5	Inferred relationship	Some
Medial duplication of long arm of chromosome 5 (disorder)	Is a	True	Partial trisomy of long arm of chromosome 5	Inferred relationship	Some

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
3498279018	Partial trisomy of long arm of chromosome 5	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3498280015	Duplication of long arm of chromosome 5	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3498281016	Partial trisomy of long arm of chromosome 5 (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
7992041000146113	partiële trisomie van lange arm van chromosoom 5	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
7992051000146111	partiële trisomie van lange arm van chromosoom 5 (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
7992081000146118	syndroom van partiële trisomie 5q	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
7992101000146111	partiële trisomie van chromosoom 5q	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
8037981000146111	partiële duplicatie 5q	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)