1003869005: proximale duplicatie van lange arm van chromosoom 2 (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 2\Partial trisomy of chromosome 2 (disorder)\2q partial trisomy syndrome\Proximal duplication of long arm of chromosome 2

\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 2 (disorder)\2q partial trisomy syndrome\Proximal duplication of long arm of chromosome 2

\Chromosomal disorder (disorder)\Autosomal chromosomal disorder (disorder)\Autosomal duplication (disorder)\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 2 (disorder)\2q partial trisomy syndrome\Proximal duplication of long arm of chromosome 2
\Chromosomal disorder (disorder)\Duplication of chromosome\Autosomal duplication (disorder)\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 2 (disorder)\2q partial trisomy syndrome\Proximal duplication of long arm of chromosome 2
\Chromosomal disorder (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 2\Partial trisomy of chromosome 2 (disorder)\2q partial trisomy syndrome\Proximal duplication of long arm of chromosome 2
\Chromosomal disorder (disorder)\Congenital chromosomal disease\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 2 (disorder)\2q partial trisomy syndrome\Proximal duplication of long arm of chromosome 2

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

4166858019 Proximal duplication of long arm of chromosome 2 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
4166859010 Proximal duplication of long arm of chromosome 2 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
12277311000146117 proximale duplicatie van lange arm van chromosoom 2 nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
12277321000146110 proximale duplicatie van lange arm van chromosoom 2 (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

Expanded Value Set

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

Inbound Relationships

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Active

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Characteristic

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This concept is not in any reference sets