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768931007: partiële trisomie van lange arm van chromosoom 1 (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 1\Partial trisomy of chromosome 1\Partial trisomy of long arm of chromosome 1 (disorder)

\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 1\Partial trisomy of long arm of chromosome 1 (disorder)

\Chromosomal disorder (disorder)\Autosomal chromosomal disorder (disorder)\Autosomal duplication (disorder)\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 1\Partial trisomy of long arm of chromosome 1 (disorder)
\Chromosomal disorder (disorder)\Duplication of chromosome\Autosomal duplication (disorder)\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 1\Partial trisomy of long arm of chromosome 1 (disorder)
\Chromosomal disorder (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 1\Partial trisomy of chromosome 1\Partial trisomy of long arm of chromosome 1 (disorder)
\Chromosomal disorder (disorder)\Congenital chromosomal disease\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 1\Partial trisomy of long arm of chromosome 1 (disorder)

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Partial trisomy of long arm of chromosome 1 (disorder)	Finding site	Chromosome pair 1	true	Inferred relationship	Some	2
Partial trisomy of long arm of chromosome 1 (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	2
Partial trisomy of long arm of chromosome 1 (disorder)	Finding site	Long arm of chromosome	true	Inferred relationship	Some	1
Partial trisomy of long arm of chromosome 1 (disorder)	Associated morphology	Partial trisomy	true	Inferred relationship	Some	1
Partial trisomy of long arm of chromosome 1 (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Partial trisomy of long arm of chromosome 1 (disorder)	Associated morphology	Partial trisomy	true	Inferred relationship	Some	2
Partial trisomy of long arm of chromosome 1 (disorder)	Is a	Partial trisomy of chromosome 1	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Trisomy 1q syndrome (disorder)	Is a	True	Partial trisomy of long arm of chromosome 1 (disorder)	Inferred relationship	Some
1q21.1 microduplication syndrome (disorder)	Is a	True	Partial trisomy of long arm of chromosome 1 (disorder)	Inferred relationship	Some
Mosaic 1q duplication	Is a	True	Partial trisomy of long arm of chromosome 1 (disorder)	Inferred relationship	Some
Proximal duplication of long arm of chromosome 1	Is a	True	Partial trisomy of long arm of chromosome 1 (disorder)	Inferred relationship	Some
Distal trisomy 1q (disorder)	Is a	True	Partial trisomy of long arm of chromosome 1 (disorder)	Inferred relationship	Some
Medial duplication of long arm of chromosome 1	Is a	True	Partial trisomy of long arm of chromosome 1 (disorder)	Inferred relationship	Some

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
3687528019	Partial duplication of long arm of chromosome 1	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3687529010	Partial trisomy of long arm of chromosome 1 (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3687530017	Partial trisomy of long arm of chromosome 1	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
7991951000146117	partiële trisomie van lange arm van chromosoom 1	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
7991961000146119	partiële trisomie van lange arm van chromosoom 1 (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
7991981000146110	syndroom van partiële trisomie 1q	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
8037961000146115	partiële trisomie 1q	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
8037971000146114	partiële duplicatie 1q	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)